Children With Disabilities Batshaw 7th Ed

DI SAB I L I TI E S / G E N E R A L D I SA B I L I T Y – P ED IAT R IC S
Batshaw
Roizen
Lotrecchiano
“Comprehensive in its overview of both the biomedical foundation of disabilities
and the psychosocial aspects of care...deserves to be on the desks and bookshelves
of those working in the health, education, and treatment communities.”
—Paul H. Lipkin, M.D., Johns Hopkins University School of Medicine
“A gem...clear, concise, and well written. I enthusiastically recommend

the seventh edition of Children with Disabilities for both practicing
professionals and students alike.”
—Heidi M. Feldman, M.D., Ph.D., Stanford University School of Medicine
“An invaluable resource covering the range of disabilities and interventions used
to treat them.... This new version remains an indispensable classic in the field.”
Children with
—Fred R. Volkmar, M.D., Yale University School of Medicine and Yale New Haven Hospital
Disabilities
C
omprehensive, authoritative information from the most WHAT’S NEW
respected experts: For 30 years, that’s what Children ■ All-new chapters on diagno-
with Disabilities has given the thousands of students, sis, neuropsychological as-
faculty, and professionals who rely on it. Bringing together the sessment, “new” disabilities
faced by survivors of previ-
latest research and developments, this seventh edition is the de-
ously fatal disorders, and
finitive compendium of knowledge about the critical issues pro- complementary and alterna-
fessionals will encounter in their work with children and families. tive medicine
■ 30+ new contributors from
Covering developmental, clinical, family, education, and inter- diverse fields
vention issues, Children with Disabilities retains and strengthens ■ Expanded chapters on
the student-friendly features of previous editions. Readers will autism and ADHD
get concise and accessible chapters, a helpful glossary, chapter ■ New developments in
overviews, case studies that bring key concepts to life, extensive neuroscience, genetics,
cross-referencing to make information easy to find, and resource and imaging
lists for every topic. ■ Greater focus on interdisci-
plinary collaboration
An unparalleled text from the leading voices in the disability field, ■ Considerations from the
DSM-5
Children with Disabilities is the cornerstone resource profession-
■ Thoroughly updated
als will keep year after year to support their important work with
content in every chapter
children and families.
ABOUT THE EDITORS: Mark L. Batshaw, M.D., is the “Fight for Children” Chair of Academic Medicine and Chief Academic
Officer at the Children’s National Medical Center in Washington, D.C., and Professor and Chairman of Pediatrics and Associ-
ate Dean for Academic Affairs at The George Washington University School of Medicine and Health Sciences in Washington,
D.C. Nancy J. Roizen, M.D., is Director of the Division of Developmental-Behavioral Pediatrics and Psychology at University
Hospital’s Rainbow Babies and Children’s Hospital in Cleveland. Gaetano R. Lotrecchiano, Ed.D., Ph.D., is a former Leadership
Education in Neurodevelopmental Disabilities Program Director and is Assistant Professor of Clinical Research and Leadership
and of Pediatrics at The George Washington University School of Medicine and Health Sciences, Washington, D.C.
90000
9 781598 571943 >

Seventh Edition
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Seventh Edition
edited by
Mark L. Batshaw, M.D.

Children’s National Medical Center
The George Washington University
School of Medicine and Health Sciences
Washington, D.C.
Nancy J. Roizen, M.D.

University Hospital’s Rainbow Babies and Children’s Hospital
Division of Developmental-Behavioral Pediatrics and Psychology
Cleveland, Ohio
Gaetano R. Lotrecchiano, Ed.D., Ph.D.

Department of Clinical Research and Leadership
The George Washington University
School of Medicine and Health Sciences
Washington, D.C.
Baltimore • London • Sydney

Paul H. Brookes Publishing Co.
Post Office Box 10624
Baltimore, Maryland 21285-0624
www.brookespublishing.com
Copyright © 2013 by Paul H. Brookes Publishing Co.

All rights reserved.
Previous edition copyright © 2007.
“Paul H. Brookes Publishing Co.” is a registered trademark

of Paul H. Brookes Publishing Co., Inc.
Typeset by BLPS Content Connections, Chilton, Wisconsin.

Manufactured in the United States of America by
Sheridan Books, Inc., Chelsea, Michigan.
Illustrations, as listed, copyright © 2013 by Mark L. Batshaw. All rights reserved. Figures 1.1–1.3, 1.5–1.13,
1.15, 2.2–2.6, 4.2, 6.1, 6.2, 7.3, 7.4, 7.6, 9.1–9.3, 9.6, 9.9, 9.10, 10.1–10.5, 10.7, 10.8, 10.11, 10.12, 11.1–11.6,
11.9, 12.1a, 12.1c, 12.2–12.5, 12.8–12.10, 15.1–15.4, 16.1, 18.1, 19.1–19.3, 24.6 (drawings only), 24.7, 24.11,
24.12, 24.14, 24.16, 24.17, 24.18 (drawing only), 25.2–25.8, 27.1–27.3, and 35.1.
Illustrations, as listed, copyright © by Lynn Reynolds. All rights reserved. Figures 4.3, 4.5, 9.5, 9.8, 9.11, 11.8,
13.1, 32.3, and 32.5.
Appendix C, Commonly Used Medications, which appears on pages 803–818, provides information about
numerous drugs frequently used to treat children with disabilities. This appendix is in no way meant to
substitute for a physician’s advice or expert opinion; readers should consult a medical practitioner if they are
interested in more information.
The publisher and the authors have made every effort to ensure that all of the information and instructions
given in this book are accurate and safe, but they cannot accept liability for any resulting injury, damage, or loss
to either person or property, whether direct or consequential and however it occurs. Medical advice should only
be provided under the direction of a qualified health care professional.
The vignettes presented in this book are composite accounts that do not represent the lives or experiences of
specific individuals, and no implications should be inferred. In all instances, names and identifying details have
been changed to protect confidentiality.
Library of Congress Cataloging-in-Publication Data

Children with disabilities / edited by Mark L. Batshaw, Nancy J. Roizen, and Gaetano R. Lotrecchiano.—7th ed.
p. cm.
Includes bibliographical references and index.
ISBN 978-1-59857-194-3 (case)—ISBN 1-59857-194-X (case)
I. Batshaw, Mark L., 1945– II. Roizen, Nancy J. III. Lotrecchiano, Gaetano R.
[DNLM: 1. Disabled Children. WS 368]
618.92—dc23 2012012739
British Library Cataloguing in Publication data are available from the British Library.
2016 2015 2014 2013
10 9 8 7 6 5 4 3 2

Contents
About the Online Companion Materials . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xiii
About the Editors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xiv
Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xvi
A Personal Note to the Reader . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xxii
Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xxiii
Acknowledgments . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xxvi
Letters from Andrew Batshaw . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xxvii
I As Life Begins
1 Genetics and Developmental Disabilities
Mark L. Batshaw, Andrea Gropman, and Brendan Lanpher . . . . . . . . . . . . . . . . . . . . . . . . . 3
Genetic Disorders
Chromosomes
Cell Division and Its Disorders
Genes and Their Disorders
Epigenetics
Genetic Testing
Environmental Influences on Heredity
2 Fetal Development
Adré J. du Plessis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25
Structural Development of the Brain
Functional Development of the Fetal Nervous System
3 Environmental Toxicants and Neurocognitive Development
Jerome Paulson . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Scope of the Issue
Susceptible Periods of Development
Specific Toxicants
Public Policy Implications
4 Birth Defects and Prenatal Diagnosis
Rhonda L. Schonberg . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47
Screening Evaluations During Pregnancy
Prevention and Alternative Reproductive Choices
Psychosocial Implications
5 Newborn Screening: Opportunities for
Prevention of Developmental Disabilities
Joan E. Pellegrino . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 61
What Is a Screening Test?
Why Screen Newborns?
How Is Newborn Screening Done?
What Should Be Done When a Child Has a Positive Newborn Screen?
What Happens to Children with Confirmed Disease?
What Is the Risk of Developmental Disability in Children with Confirmed Disease?
v
vi Contents
How Can Screening Fail?

The Past, Present, and Future of Newborn Screening
Prenatal Screening
6 The First Weeks of Life
Chrysanthe Gaitatzes, Taeun Chang, and Stephen Baumgart . . . . . . . . . . . . . . . . . . . . . . . 73
The Fetus Before Birth
The Birth Process
The Nervous System
7 Premature and Small-for-Dates Infants
Khodayar Rais-Bahrami and Billie Lou Short . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
Definitions of Prematurity and Low Birth Weight
Incidence of Preterm Births
Causes of Premature Birth
Complications of Prematurity
Medical and Developmental Care of Low Birth Weight Infants
Survival of Low Birth Weight Infants
Care After Discharge From the Hospital
Early Intervention Programs
Neurodevelopmental Outcome
II The Developing Child

8 Nutrition and Children with Disabilities
Rebecca M. Haesler and Jocelyn J. Mills . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 107
Typical Growth During Childhood
Nutritional Guidelines
Nutritional Issues in Children with Developmental Disabilities
Medical Nutritional Therapy
Special Nutritional Concerns in Children with Disabilities
Nutrition within Complimentary and Alternative Medical Care
9 Feeding and Its Disorders
Peggy S. Eicher . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 121
The Feeding Process
Feeding and the Influence of Medical Conditions
Feeding and the Influence of Tone, Posture, and Development
Feeding Problems in Children with Disabilities
Evaluation of a Feeding Problem
Managing Feeding Problems
10 Hearing and Deafness
Pamela Buethe, Betty R. Vohr, and Gilbert R. Herer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
The 1-3-6 Guidelines for Screening and Diagnosis
The Hearing System
Defining Sound
Defining Hearing Loss
Causes of Hearing Loss
Identifications of Hearing Loss
Intervention for Hearing Loss
11 Vision and Visual Impairment
Brooke E. Geddie, Michael J. Bina, and Marijean M. Miller . . . . . . . . . . . . . . . . . . . . . . . 169
Structure and Function of the Eye
Contents vii
Ocular Development
Development of Visual Skills
Common Disorders of the Eye in Children with Disabilities
Disorders of the Visual Cortex
Strabismus and Ocular Motility Disorders
Refractive Errors in Children
Vision Assessment
Blindness
12 The Brain and Nervous System
Amanda Yaun, Robert Keating, and Andrea Gropman . . . . . . . . . . . . . . . . . . . . . . . . . . . 189
The Brain and Spinal Cord
The Peripheral Nervous System
The Microscopic Architecture of the Brain
Techniques for Evaluating the Central Nervous System
13 Muscles, Bones, and Nerves
Peter B. Kang . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 213
Components of the Neuromuscular and Musculoskeletal Systems
Symptoms and Signs of Neuromuscular and Musculoskeletal Disorders
Laboratory Testing and Radiography
Disorders of the Neuromuscular System
Disorders of the Musculoskeletal System
Principles for the Management of Neuromuscular and Musculoskeletal Disorders
14 Patterns in Development and Disability
Louis Pellegrino . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 231
Defining Disability
Defining Development
Patterns in Development
Disturbances in Development
15 Diagnosing Developmental Disabilities
Scott M. Myers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 243
Atypical Patterns of Development
Developmental Principles
Diagnostic Classification
The Diagnostic Process
16 Understanding and Using Neurocognitive Assessments
Lauren Kenworthy and Laura Gutermuth Anthony . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 267
The Purpose of Neuropsychological Assessment
A Model for Developmental Neuropsychological Assessment
Domains of Functioning Assessed in Neuropsychological Evaluations
Ensuring that Assessment Informs Management
III Developmental Disabilities

17 Developmental Delay and Intellectual Disability
Bruce K. Shapiro and Mark L. Batshaw . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 291
Early Identification of Developmental Delay
Defining Intellectual Disability
Classification of Intellectual Disability
Prevalence of Intellectual Disability
Associated Impairments
viii Contents
Medical Diagnostic Testing

Psychological Testing
Treatment Approaches
18 Down Syndrome (Trisomy 21)
Nancy J. Roizen . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 307
Prevalence
Chromosomal Findings
Effects of Trisomy 21
Early Identification
Medical Complications in Down Syndrome
Neurodevelopment and Behavior
Evaluation and Treatment
Intervention
19 Inborn Errors of Metabolism
Mark L. Batshaw and Brendan Lanpher . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 319
Types of Inborn Errors of Metabolism
Mechanism of Brain Damage
Associated Disabilities
Diagnostic Testing
Newborn Screening
Therapeutic Approaches
20 Speech and Language Disorders
Sheela Stuart . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 333
Components of Communication
Typical Development of Speech and Language
Bilingualism
Communication Disorders
Assessment
Types of Communication Disorders
21 Autism Spectrum Disorders
Susan L. Hyman and Susan E. Levy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 345
Diagnostic Categories within the Autism Spectrum
Diagnostic Features of Autism Spectrum Disorders
Causes of Autism Spectrum Disorders
Epidemiology of Autism Spectrum Disorders
Early Identification of Autism Spectrum Disorders
Associated Conditions
22 Attention Deficits and Hyperactivity
Marianne Glanzman and Neelam Sell . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 369
Diagnosis and Attention-Deficit/Hyperactivity Disorder Subtypes
Prevalence and Epidemiology
Clinical Presentation
Common Coexisting Conditions
Causes of Attention-Deficit/Hyperactivity Disorder
The Evaluation Process
Treatment of Attention-Deficit/Hyperactivity Disorder
Treatment with Coexisting Conditions
Alternative Therapies
Contents ix
23 Specific Learning Disabilities

M.E.B. Lewis, Bruce K. Shapiro, and Robin P. Church . . . . . . . . . . . . . . . . . . . . . . . . . . . 403
Defining Learning Disorders
Response to Intervention
Prevalence
Specific Reading Disability
Specific Mathematics Disability
Impairments Associated with Specific Learning Disabilities
Health Problems Simulating Specific Learning Disabilities
Assessment Procedures
Intervention Strategies
24 Cerebral Palsy
Alexander H. Hoon, Jr., and Frances Tolley . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 423
What Is Cerebral Palsy?
What Causes Cerebral Palsy?
Epidemiology
Risk Factors
Diagnosis
Subtypes of Cerebral Palsy
Establishing the Etiology (Cause) of Cerebral Palsy
Associated Impairments in Cerebral Palsy
Comprehensive Management for Individuals with Cerebral Palsy
25 Neural Tube Defects
Gregory S. Liptak . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 451
Prevalence of Neural Tube Defects
The Origin of Neural Tube Defects
Prevention of Neural Tube Defects Using Folic Acid Supplementation
Prenatal Diagnosis
Treatment of Meningomyelocele in the Newborn Period
Primary Neurological Impairments in Children with Meningomyelocele
Associated Impairments and Medical Complications
Educational Programs
Psychosocial Issues for the Child
Interdisciplinary Management
26 Traumatic Brain Injury
Melissa K. Trovato and Scott C. Schultz . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 473
Incidence of Traumatic Brain Injury
Causes of Traumatic Brain Injury
Types of Brain Injuries
Concussions
Detection of Traumatic Brain Injury
Severity of Traumatic Brain Injury
Acute Treatment of Traumatic Brain Injury
Rehabilitation of Children with Traumatic Brain Injury
Outcome of Moderate to Severe Traumatic Brain Injury
27 Epilepsy
Tesfaye Getaneh Zelleke, Dewi Francis T. Depositaro-Cabacar,
and William Davis Gaillard . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 487
Epilepsy: Definitions and Classification
Diagnosis and Evaluation
Treatment
Multidisciplinary Care
x Contents
28 The New Face of Developmental Disabilities

Nancy J. Roizen and Adrienne S. Tedeschi . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 507
Sickle-Cell Disease
Cancer: Acute Lymphocytic Leukemia and Brain Tumors
Human Immunodeficiency Virus
Chronic Kidney Disease
29 Behavioral and Psychiatric Disorders in Children with Disabilities
Adelaide Robb . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 523
Prevalence of Psychiatric Disorders Among Children
with Developmental Disabilities of Specific Etiologies
Causes of Psychiatric Disorders in Developmental Disabilities
Psychiatric Disorders of Childhood and Adolescence
Vulnerability
Evaluation
Treatment
IV Interventions, Families, and Outcomes

30 Early Intervention
Toby Long . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 547
Principles of Early Intervention
Research Support for the Value of Early Intervention
Components of Part C of the Individuals
with Disabilities Education Improvement Act:
The Infants and Toddlers with Disabilities Program
Status of Early Intervention Services
Future Considerations
31 Special Education Services
Elissa Batshaw Clair . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 559
Eligibility for Special Education
Special Education: A Description
The Individualized Education Program
Services Provided by Special Education Teachers
The Role of the Special Education Teacher in the General Education Curriculum
General Education Legislation Affecting Special Education Teachers
The School–Parent Connection
32 Behavior Principles, Assessment, and Therapy
Michael F. Cataldo, SungWoo Kahng, Iser G. DeLeon,
Brian K. Martens, Patrick C. Friman, and Marilyn Cataldo . . . . . . . . . . . . . . . . . . . . . . . 579
Operant Learning Principles and Practices
Behavioral Assessment of Problem Behaviors
Functional Assessment and Treatment Development
Preference Assessment and Reinforcer
Evaluation: From Basic Principle to Application
Common Behavior Problems
Severe Problem Behaviors
Practical Strategies for the Classroom
Behavioral Teaching Strategies
Behavioral Instruction Programs
33 Occupational and Physical Therapy
Philippa Campbell . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 599
Therapy Types and Purposes
Contents xi
Intervention Frameworks Used by Physical and Occupational Therapists

Team Structures and Therapist Roles
Features of Pediatric Therapy Services and the Role of Therapists
Intervention Strategies
Evidence-Based Intervention
34 Physical Activity, Exercise, and Sports
Donna Bernhardt Bainbridge and James Gleason . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 613
Health Risks of Children with Disabilities Related to a Lack of Physical Activity
Considerations for Specific Disabilities
Community Programs
Policies Affecting Participation in Physical Activity
Choice and Preparation for Physical Activity, Exercise, or Sports
Injury Risk in Children
35 Oral Health Care
H. Barry Waldman, Steven P. Perlman, and George Acs . . . . . . . . . . . . . . . . . . . . . . . . . . 631
Eruption of Teeth
Problems Affecting Development of Teeth
Contributing Factors to Oral Conditions of Individuals with Disabilities
Oral Diseases
Malocclusion
Prevention of Dental Caries and Periodontal Disease
Providing Dental and Orthodontic Treatment
Special Issues Regarding Dental Care
for Children with Specific Developmental Disabilities
The Challenge of Providing Dental Services to Individuals with Disabilities
36 Assistive Technology
Larry W. Desch . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 641
Definitions and Overview
Technology for Medical Assistance
Assistive Technology for Disabilities—Principles and Examples
Assessment for Assistive Technology
Effects of Assistive Technology on the Family and Community
37 Caring and Coping: Helping the Family of a Child with a Disability
Michaela L. Zajicek-Farber . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 657
Understanding Family Systems
How Families Cope with the Diagnosis
Long-Term Effects on the Parents
Effects on Siblings
Effects on the Extended Family
Effects on the Child with a Disability
Principles of Family-Centered Care: Role of the Professional
The Role of Society and Community
38 Complementary and Alternative Therapies
Michelle H. Zimmer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 673
Evidence of Treatment Efficacy
Approaches to Advising Families About Complementary and Alternative Medicine
39 Ethical Considerations
Kruti Acharya, Michelle Huckaby Lewis, and Peter J. Smith . . . . . . . . . . . . . . . . . . . . . . . 681
Basic Ethical Principles
The Relationship Between Law and Ethics
Ethical Dilemmas
xii Contents
Institutional Ethics Committees

Protection of Human Subjects in Research
40 Future Expectations: Transition from Adolescence to Adulthood
Nienke P. Dosa, Patience H. White, and Vincent Schuyler . . . . . . . . . . . . . . . . . . . . . . . . . 691
General Principles of Transition
Moving Toward Independence: Self-Determination
Moving from School to Work
Moving from Home into the Community
Moving from Pediatric- to Adult-Oriented Health Care
41 Health Care Delivery Systems and Financing Issues
Angelo P. Giardino and Renee M. Turchi . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 705
The Concept of a Medical Home
Importance of Coordination of Care
Changes in Financing Health Care for CYSHCN
Looking Toward the Future
Appendix A Glossary
Arlene Gendron . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 719
Appendix B Syndromes and Inborn Errors of Metabolism
Kara L. Simpson . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 757
Appendix C Commonly Used Medications
Michelle L. Bestic . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 803
Appendix D Childhood Disabilities Resources, Services, and Organizations . . . . . . . . . . 819
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 843
About the Online
Companion Materials
Attention Instructors! Online companion materials are available to help you teach a course
using Children with Disabilities, Seventh Edition.
Please visit www.brookespublishing.com/batshaw to access
• Customizable PowerPoint presentations for every chapter, totaling over 450 slides
• All original illustrations from the book downloadable for easy use in your PowerPoint pre-
sentations, tests, handouts, and other course purposes
• Study questions for every chapter to help students check their knowledge of key concepts
• Extension activities for class use, group projects, and homework to help students apply the
information from the text
• Extended case studies to enrich discussions of how concepts are interconnected
• Sample syllabi from various fields to help you determine what chapters and sequence best
suits the needs of your course
• Resource listings with functional links for easy access
xiii
About the Editors
Mark L. Batshaw, M.D., is the “Fight for Nancy J. Roizen, M.D., is Director of the
Children” Chair of Academic Medicine and Division of Developmental-Behavioral Pedi-
Chief Academic Officer at the Children’s atrics and Psychology at University Hospi-
National Medical Center (CNMC) in Wash- tal’s Rainbow Babies and Children’s Hospital
ington, D.C., and Professor and Chairman of in Cleveland. She is certified in neurodevel-
Pediatrics and Associate Dean for Academic opmental disabilities and in developmental
Affairs at The George Washington Univer- behavioral pediatrics.
sity School of Medicine and Health Sciences Dr. Roizen received her B.S. and M.D.
in Washington, D.C. degrees from Tufts University. After com-
Dr. Batshaw is a board-certified neuro- pleting an internship in pediatrics at Mas-
developmental pediatrician who has treated sachusetts General Hospital, she did a
children with developmental disabilities for residency in pediatrics at The Johns Hop-
more than 35 years. In 2006, Dr. Batshaw kins Hospital. Her fellowships were in neu-
received both the Capute Award for notable rodevelopmental disabilities at the Kennedy
contributions to the field of children with Krieger Institute and in developmental and
disabilities by the American Academy of behavioral pediatrics at University of Califor-
Pediatrics and the Distinguished Research nia, San Francisco. She then was a staff phy-
Award from The Arc. sician at the Child Development Center at
Before moving to Washington in 1998, Oakland Children’s Hospital for 8 years, fol-
he was Physician-in-Chief of Children’s Sea- lowed by 16 years as Chief of the Section of
shore House, the child development and Developmental Pediatrics at the University
rehabilitation institute of The Children’s of Chicago. Then, at SUNY Upstate Medi-
Hospital of Philadelphia. Dr. Batshaw is a cal University, she was Vice Chair of Pediat-
graduate of the University of Pennsylvania rics, Professor of Pediatrics, and Chief of the
and of the University of Chicago Pritzker Division of Neurosciences for 4 years. Next
School of Medicine. Following pediatric res- stop was the Cleveland Clinic, where she
idency at the Hospital for Sick Children in was the Chief of the Department of Develop-
Toronto, he completed a fellowship in devel- mental Pediatrics and Physiatry for 2 years.
opmental pediatrics at the Kennedy Krieger Dr. Roizen has published more than 100
Institute at The Johns Hopkins Medical articles, chapters, and reviews on her clinical
Institutions. and research interests in Down syndrome and
Dr. Batshaw continues to pursue his hearing loss, and on collaborations in con-
research on innovative treatments for inborn genital toxoplasmosis and velocardiofacial
errors of metabolism, including gene ther- syndrome. She lives in Shaker Heights, Ohio,
apy. He has published more than 150 articles, with her husband. They have a daughter who
chapters, and reviews on his research inter- is working on a postdoctorate fellowship in
ests and on the medical aspects of the care organic chemistry at Stanford University and
of children with disabilities. Dr. Batshaw was a son who is a fellow in pediatric endocrinol-
the founding editor-in-chief (1995–2001) of ogy at Children’s Hospital of Philadelphia.
the journal Mental Retardation and Develop-
mental Disabilities Research Reviews.
Dr. Batshaw lives in Washington, D.C. Gaetano R. Lotrecchiano, Ed.D., Ph.D., is
He and his wife Karen have three children a former Leadership Education in Neurode-
and six grandchildren. velopmental Disabilities Program Director
xiv
About the Editors xv
and is presently Academic Director of Trans- of Education for the Khalifa Bin Zayed al
lational Science Programs as Assistant Pro- Nehyan Foundation initiative to create a
fessor of Clinical Research and Leadership sustainable rehabilitation center and profes-
and of Pediatrics at The George Washington sional education in the Eastern United Arab
University School of Medicine and Health Emirates. Dr. Lotrecchiano focuses on pro-
Sciences, Washington, D.C. fessional development through his dedication
Dr. Lotrecchiano received a Ph.D. in to those who care for children with special
ethnomusicology in 2005 from the Univer- needs. As a result, his scholarly interests have
sity of Maryland and an Ed.D. in human and focused on complexity leadership, transdisci-
organizational learning in 2012 from The plinarity team science, and blended-learning
George Washington University Graduate models in professional development, which
School of Education and Human Devel- he feels are key aspects of contemporary pro-
opment. He is a member of the Center fessional health care. Recently recognized as
for Neuroscience Research at Children’s a Morton A. Bender Teaching Scholar, Dr.
National Medical Center and the Center for Lotrecchiano has dedicated his entire career
the Study of Learning at The George Wash- to excellence in teaching and instruction. His
ington University. He has served in a number recent published material is in the Interna-
of positions administering disabilities and tional Journal of Transdisciplinary Research and
rare disease programs throughout his career, VINE: The Journal of Information and Knowl-
including the Intellectual and Developmen- edge Management Systems and Integral Leader-
tal Disabilities Research Center (IDDRC), ship Review. Dr. Lotrecchiano and his partner
the Rare Diseases Clinical Research Center Paul live in Beltsville, Maryland, with a his-
(RCDRC), and the Child Health Research toric home in Snow Hill, in the lower Del-
Center (CHRC). Presently, he is the Director marva Peninsula.
Contributors
Kruti Acharya, M.D. Michael J. Bina, Ed.D.
Assistant Professor of Pediatrics and President
Medicine The Maryland School for the Blind
University of Chicago 3501 Taylor Avenue
950 East 61st Street, SSC Suite 207 Baltimore, MD 21236
Chicago, IL 60637
Pamela Buethe, Ph.D.
George Acs, D.M.D, M.P.H Director of Audiology
ACS Consulting and Publishing Children’s National Medical Center
7120 Chilton Court Children’s Hearing and Speech Center
Clarksville, MD 21029 111 Michigan Avenue, NW
Washington, D.C. 20010
Laura Gutermuth Anthony, Ph.D.
Assistant Professor Philippa H. Campbell, Ph.D.
The George Washington University School Professor
of Medicine and Health Sciences Thomas Jefferson University
Children’s National Medical Center 6th Floor Edison, Suite 663
111 Michigan Avenue, NW 130 South 9th Street
Washington, D.C. 20010 Philadelphia, PA 19107
Marilyn Cataldo, M.A.

Donna Bernhardt Bainbridge, B.S., M.S., Director of Behavioral Services in Education
Ed.D. Case Manager (Educational Manager &
Special Olympics Global Advisor for Clinical Instructor)
FUNfitness & Fitness Programming, Kennedy Krieger Institute
Faculty, MPH Program, University of 707 North Broadway
Montana Baltimore, MD 21205
Adjunct Faculty, University of Indianapolis
Special Olympics, Universities of Montana Michael F. Cataldo, Ph.D.
and Indianapolis Director of Behavioral Psychology
1133 19th Street, NW Kennedy Krieger Institute
Washington, D.C. 20036 707 North Broadway
Baltimore, MD 21205
Stephen Baumgart, M.D., FAAP
Senior Staff Physician Taeun Chang, M.D.
Professor of Pediatrics Director, Neonatal Neurology
Department of Neonatology, Children’s Children’s National Medical Center
Hospital National Medical Center 111 Michigan Avenue, NW
The George Washington University Washington, D.C. 20010
111 Michigan Avenue, NW
Washington, D.C. 20010 Robin P. Church, Ed.D.
Senior Vice President for Education
Michelle Bestic, Pharm.D. Associate Professor of Education
Clinical Pharmacologist/Toxicologist Kennedy Krieger Institute
Akron Children’s Hospital Johns Hopkins University
1 Perkins Square 3825 Greenspring Avenue
Akron, OH 44308 Baltimore, MD 21211
xvi
Contributors xvii
Elissa Batshaw Clair, Ed.S., M.Ed. Patrick C. Friman, Ph.D., ABPP

School Psychologist Director of the Boys Town Center for
Special School District Behavioral Health
12110 Clayton Road Boys Town
St. Louis, MO 63131 Youth Care Building
13603 Flanagan Boulevard
Iser DeLeon, Ph.D. Boys Town, NE 68010
Associate Professor
Kennedy Krieger Institute
Johns Hopkins University School of William Davis Gaillard, M.D.
Medicine Professor, Neurology and Pediatrics
3825 Greenspring Avenue Chief Division Neurophysiology, Epilepsy,
Baltimore, MD 21211 Critical Care Neurology
The George Washington University Medical
Dewi Frances T. Depositario-Cabacar, M.D. Center
Assistant Professor, Neurology and Children’s National Medical Center
Pediatrics 111 Michigan Avenue, NW
The George Washington University Medical Washington, D.C. 20010
Center
111 Michigan Avenue, NW Chrysanthe Gaitatzes, M.D., Ph.D.
Washington, D.C. 20010 Neonatology Attending Physician
Holy Cross Hospital
Larry W. Desch, M.D. 1500 Forest Glen Road
Clinical Associate Professor of Pediatrics, Silver Spring, MD 20910
Director of Developmental Pediatrics
Chicago Medical School, Rosalind Franklin Brooke E. Geddie, D.O.
University Pediatric Ophthalmologist
Advocate Hope Children’s Hospital Helen DeVos Children’s Hospital
4440 West 95th Street 330 Barclay, Suite 104, MC 183
Oak Lawn, IL 60453 Grand Rapids, MI 49503
Nienke P. Dosa, M.D., M.P.H.
Associate Professor of Pediatrics Arlene Gendron
Center for Development, Behavior and Project Lead
Genetics Children’s National Medical Center
Department of Pediatrics 111 Michigan Avenue, NW
SUNY Upstate Medical University Washington, D.C. 20010
750 East Adams Street
Syracuse, New York 13210
Angelo P. Giardino, M.D., Ph.D., M.P.H.
Adré du Plessis, M.D., MBChB, M.P.H. Chief Medical Officer/Clinical Professor
Chief of Fetal and Transitional Medicine, Texas Children’s Health Plan/Baylor College
Children’s National Medical Center, of Medicine
Professor of Pediatrics and Neurology 2450 Holcombe Boulevard, Suite 34L
The George Washington University School Houston, TX 77021
of Medicine
Washington, D.C. 20010 Marianne M. Glanzman, M.D.
Clinical Associate Professor of Pediatrics
Peggy S. Eicher, M.D. Division of Child Development
Medical Director, Center for Pediatric Rehabilitations and Metabolism
Feeding and Swallowing Disorders The Children’s Hospital of Philadelphia
St. Joseph’s Children’s Hospital The University of Pennsylvania School of
DePaul Ambulatory Care Center Medicine
11 Getty Avenue 3550 Market Street, 3rd Floor
Paterson, NJ 07503 Phildelphia, PA 19104
xviii Contributors
James Gleason, PT, M.S. Peter B. Kang, M.D.

Associate Director, University Centers for Director, EMG Laboratory
Excellence in Developmental Disabilities Assistant Professor of Neurology
Eunice Kennedy Shriver Center Children’s Hospital Boston
University of Massachusetts Medical School Harvard Medical School
200 Trapelo Road Department of Neurology
Waltham, MA 02452 300 Longwood Avenue
Boston, MA 02115
Andrea Gropman, M.D.
Associate Professor
The George Washington University of the Robert F. Keating, M.D.
Health Sciences Professor and Chief
Children’s National Medical Center Children’s National Medical Center
Department of Neurology The George Washington University School
111 Michigan Avenue, NW of Medicine
Washington, D.C. 20010 111 Michigan Avenue, NW
Rebecca M. Haesler, M.S., RD, LD

Clinical Dietitian Lauren Kenworthy, Ph.D.
Texas Children’s Hospital Pediatric Neuropsychologist
6621 Fannin St. Director, Center for Autism Spectrum
Houston, TX 77030 Disorders
Associate Professor Pediatrics, Neurology,
Gilbert R. Herer, Ph.D., CCC-A/SLP Psychiatry
Director Emeritus, Children’s Hearing and Children’s National Medical Center
Speech Center The George Washington University Medical
Children’s National Medical Center, School
Professor Emeritus of Pediatrics 111 Michigan Avenue, NW
Brendan Lanpher, M.D.
Assistant Professor of Pediatrics
Alexander H. Hoon, Jr., M.D., M.P.H. Division of Genetics and Metabolism
Director, Phelps Center for Cerebral Palsy The George Washington University
and Neurodevelopmental Medicine Children’s National Medical Center
Kennedy Krieger Institute 111 Michigan Avenue, NW
3825 Greenspring Avenue Washington, D.C. 20010
Baltimore, MD 21211
Susan L. Hyman, M.D. Susan E. Levy, M.D.

Associate Professor of Pediatrics Associate Professor of Pediatrics
University of Rochester School of Medicine The Children’s Hospital of Philadelphia
Division of Neurodevelopmental and The University of Pennsylvania School of
Behavioral Pediatrics Medicine
Box 671 3550 Market Street, 3rd Floor
601 Elmswood Avenue Philadelphia, PA 19104
Rochester, NY 14642
SungWoo Kahng, Ph.D. M.E.B. Lewis, Ed.D.

Senior Behavior Analyst Director, Education Projects
Kennedy Krieger Institute Kennedy Krieger Institute
3825 Greenspring Avenue 3825 Greenspring Avenue
Baltimore, MD 21211 Baltimore, MD 21211
Contributors xix
Michelle Huckaby Lewis, M.D., J.D. Jerome A. Paulson, M.D.

Research Scholar Director, Mid-Atlantic Center for Children’s
Genetics and Public Policy Center, Berman Health & the Environment
Institute of Bioethics Children’s National Medical Center
Johns Hopkins University The George Washington University Schools
1717 Massachusetts Avenue, NW of Medicine and Public Health
Washington, D.C. 20036 2233 Wisconsin Avenue, NW, Suite #317
Gregory S. Liptak, M.D., M.P.H. Joan E. Pellegrino, M.D.

Upstate Foundation Professor of Pediatrics Associate Professor of Pediatrics
SUNY Upstate Medical University SUNY Upstate Medical University
Syracuse, NY 750 East Adams Street
Syracuse, NY 13210
Toby M. Long, Ph.D. Louis Pellegrino, M.D.

Associate Professor Assistant Professor of Pediatrics
Director of Training SUNY Upstate Medical University
Director of Physical Therapy Department of Pediatrics
Georgetown University 750 East Adams Street
Department of Pediatrics Syracuse, NY 13210
Center for Child and Human Development
Box 571485 Steven Perlman, D.D.S., M.Sc.D., D.H.L
Washington, D.C. 20057-1485 (Hon.)
Professor of Pediatric Dentistry
Boston University School of Dentistry
Brian K. Martens, Ph.D. Global Clinical Advisor and Founder
Professor of Psychology Special Olympics Special Smiles
Syracuse University 77 Broad Street
Department of Psychology Lynn, MA 01902
430 Huntington Hall
Syracuse, NY 13244-2340 Khodayar Rais-Bahrami, M.D.
Director, Neonatal-Perinatal Medicine
Fellowship Program
Marijean Miller, M.D. Children’s National Medical Center
Associate Professor The George Washington University School
Ophthamology and Pediatrics of Medicine
Children’s National Medical Center 111 Michigan Avenue, NW
Washington, D.C. 20010 Adelaide Robb, M.D.
Associate Professor Psychiatry and Pediatrics
Jocelyn Mills, RD, CSP, LD The George Washington University
Senior Pediatric Clinical Dietitian 111 Michigan Avenue, NW
Texas Children’s Hospital Washington, D.C. 20010
6621 Fannin Street
Houston, TX 77030 Rhonda L. Schonberg, M.S.
Clinical Instructor
The George Washington University School
Scott M. Myers, M.D. of Medicine and Health Sciences
Neurodevelopmental Pediatrician Genetic Counselor and Coordinator
Geisinger Health System Division of Fetal and Transitional Medicine
Clinical Assistant Professor of Pediatrics Division of Genetics and Metabolism
Temple University School of Medicine Children’s National Medical Center
100 North Academy Avenue 111 Michigan Avenue, NW
Danville, PA 17822 Washington, D.C. 20010
xx Contributors
Scott C. Schultz, M.D. Sheela L. Stuart, Ph.D., CCC-SLP

Instructor Director, Children’s Hearing and Speech
Kennedy Krieger Institute Center
John Hopkins School of Medicine Children’s National Medical Center
707 North Broadway The George Washington University
Baltimore, MD 21205 111 Michigan Avenue, NW
Vincent Schuyler, B.S., FABDA
Director, Quality & Community
Adrienne S. Tedeschi, M.D.
Partnerships
Fellow, Developmental-Behavioral Pediatrics
Goldberg Center for Community Pediatric
Division of Developmental-Behavioral
Health,
Pediatrics and Psychology
Rainbow Babies and Children’s Hospital
Director
11100 Euclid Avenue, Walker Building,
District of Columbia Partnership to Improve
Suite 3150
Children’s Health Care Quality
Cleveland, OH 44106
Frances Tolley, R.N., B.S.N.
Neelam Sell, M.D. Nurse Clinician, Phelps Center for Cerebral
Fellow, Developmental-Behavioral Pediatrics Palsy and Neurodevelopmental Medicine
The Children’s Hospital of Philadelphia Kennedy Krieger Institute
3350 Market Street, 3rd Floor 801 North Broadway
Phildelphia, PA 19104 Baltimore, MD 21205
Bruce K. Shapiro, M.D.

Melissa K. Trovato, M.D.
The Arnold J. Capute, M.D., M.P.H.
Assistant Profeesor
Chair in Neurodevelopmental Disabilities
Professor of Pediatrics
John Hopkins School of Medicine
The Johns Hopkins University School of
707 North Broadway
Medicine
Baltimore, MD 21205
Vice President, Training
707 North Broadway Renee M. Turchi, M.D., M.P.H.
Baltimore, MD 21205 Associate Professor of Pediatrics and
Community Health and Prevention
Billie Lou Short, M.D. St. Christopher’s Hospital for Children
Chief, Division of Neonatology Drexel University School of Public Health
Professor of Pediatrics 3601 A Street
Children’s National Medical Center Philadelphia, PA 19134
The George Washington School of Medicine
Washington, D.C. 20010 Betty Vohr, M.D.
Director of Neonatal Follow-up
Professor of Pediatrics
Kara L. Simpson, M.S., CGC Women & Infants Hospital
Certified Genetic Counselor Alpert Medical School of Brown University
Children’s National Medical Center Division of Neonatology
111 Michigan Avenue, NW, #1950 101 Dudley Street
Washington, D.C. 20010 Providence, RI 02905
Peter J. Smith, M.D., M.A.
Assistant Professor of Pediatrics H. Barry Waldman, D.D.S., M.P.H., Ph.D.
University of Chicago Distinguished Teaching Professor
950 East 61st Street Stony Brook University School of Dental
SSC Suite 207 Medicine
Chicago, IL 60637 Stony Brook, NY 11794
Contributors xxi
Patience H. White, M.D., M.A. Tesfaye Getaneh Zelleke, M.D.

Vice President, Public Health Assistant Professor of Pediatrics and
Arthritis Foundation Neurology
Professor of Medicine and Pediatrics The George Washington University
The George Washington University School Children’s National Medical Center
of Medicine and Health Sciences 111 Michigan Avenue, NW
1615 L Street, NW Suite 320 Washington, D.C. 20010
Michelle H. Zimmer, M.D.
Amanda L. Yaun, M.D. Assistant Professor of Pediatrics
Assistant Professor, Neurosurgery Cincinnati Children’s Medical Center
Children’s National Medical Center 3430 Burnet Avenue MLC 4002
111 Michigan Avenue, NW Cincinnati, OH 45229
Michaela L. Zajicek-Farber, M.S.W., Ph.D.

Associate Professor
The Catholic University of America,
National Catholic School of Social Service
Shahan Hall #112
620 Michigan Avenue, NE
A Personal Note to the Reader
As it enters its seventh edition, Children with Nancy dates back to our training at Hopkins.
Disabilities has continued to evolve. The first Based on our areas of expertise, we divided
edition was derived from lectures I gave for the book up. I took the sections As Life
a special education course I taught at The Begins and The Developing Child, Nancy
Johns Hopkins University in Baltimore. The focused on Developmental Disabilities, and
book contained 23 chapters, and I authored Guy edited the chapters in the section Inter-
or co-authored virtually all of them. When I ventions, Families, and Outcomes.
started writing the first edition I was 3 years The book has also become somewhat of
out of my neurodevelopmental disabilities a family affair. My daughter Elissa, a special
fellowship training program, and I thought education teacher and school psychologist,
I knew everything about developmental dis- authored the chapter “Special Education
abilities! I also considered myself an expert in Services.” And Drew has continued his auto-
my own children’s development, having just biographical letters concerning the effect of
welcomed into our family our third child, attention-deficit/hyperactivity disorder on
Andrew. his life.
With this edition of the book the number It has been both personally and profes-
of chapters and pages has basically doubled sionally very rewarding to develop this book
since its inception, and I have authored but a over the past 30 years. Many of those rewards
few chapters. I have recognized the need for have come from the students, colleagues,
additional help and counsel and have brought and parents who have shared with me their
on two valued colleagues, Dr. Gaetano R. thoughts and advice about the book. It is my
Lotrecchiano and Dr. Nancy J. Roizen, to hope that Children with Disabilities will con-
coedit the book with me. Guy directed our tinue to fill the needs of its diverse users for
Leadership Education in Neurodevelop- many years to come.
mental Disabilities (LEND) program at
Children’s National, and my friendship with Mark L. Batshaw
xxii
Preface
One of the first questions asked about a resource, parents, grandparents, siblings, and
subsequent edition of a textbook is “What’s other family members and friends have used
new?” The challenge of determining what to the book. They have found useful informa-
revise, what to add, and, in some cases, what tion on the medical and rehabilitative aspects
to delete is always significant in preparing a of care for the child with developmental dis-
new edition in a field changing as rapidly as abilities.
developmental disabilities. Since the publi-
cation of the sixth edition in 2007, advances FEATURES FOR THE READER
in the fields of neuroscience and genetics We have been told that the strengths of previ-
have greatly enhanced our understanding of ous editions of this book have been the acces-
the brain and inheritance. This brings forth sible writing style, the clear illustrations, and
opportunities for treatments previously not the up-to-date information and references.
thought possible for children with devel- We have dedicated our efforts to retaining
opmental disabilities. The human genome these strengths. Some of the features you will
has been mapped and the brain probed by find include the following:
functional imaging techniques. The need to • Teaching goals—Each chapter begins with
examine and explain this increased knowl- learning objectives to orient you to the
edge and its significance for children with content of that particular chapter.
disabilities has necessitated an increase in the
depth and breadth of the subjects covered in • Situational examples—Most chapters include
the book. Yet, while the book is now more one or more stories, or case studies, to help
expansive and has several new chapters, we bring alive the conditions and issues dis-
have worked hard to ensure that it retains its cussed in the chapter.
clarity and cohesion. Its mission continues • Key terms—As medical terms are intro-
to be to provide the individual working with duced in the text, they appear in boldface
and caring for children with disabilities the type at their first use; definitions for these
necessary background to understand differ- terms appear in the Glossary (Appendix A).
ent disabilities and their treatments, thereby • Illustrations and tables—More than 200
enabling affected children to reach their full drawings, photographs, x rays, imaging
potential. scans, and tables reinforce the points of
the text and provide ways for you to more
THE AUDIENCE
easily understand and remember the
Since it was originally published, Children material you are reading.
with Disabilities has been used by students in
a wide range of disciplines as a medical text- • Summary—Each chapter closes with a
book addressing the impact of disabilities on final section that reviews its key elements
child development and function. It has also and provides you with an abstract of the
served as a professional reference for special covered material.
educators, general educators, physical thera- • References—The reference list accompa-
pists, occupational therapists, speech-lan- nying each chapter can be thought of as
guage pathologists, psychologists, child-life more than just a list of the literature cited
specialists, social workers, nurses, physicians, in the chapter. These citations include
advocates, and others who provide care for review articles, reports of study find-
children with disabilities. Finally, as a family ings, research discoveries, and other key
xxiii
xxiv Preface
references that can help you find addi- development, the birth process, and prema-
tional information. turity are explained. The next section of the
• Appendixes—In addition to the Glossary, book, The Developing Child, covers environ-
there are three other helpful appendi- mental causes of developmental disabilities
ces 1) Syndromes and Inborn Errors of and examines the various organ systems—how
Metabolism, a mini-reference of pertinent they develop and work and what can go wrong.
information on inherited disorders causing Nutrition, vision, hearing, language, patterns
developmental disabilities; 2) Commonly of development, and the brain and muscu-
Used Medications, to describe indica- loskeletal systems are discussed in individual
tions and side effects of medications often chapters. As its title implies, the third section,
prescribed for children with disabilities; Developmental Disabilities, provides compre-
and 3) Childhood Disabilities Resources, hensive descriptions of various developmental
Services, and Organizations, a directory disabilities and genetic syndromes causing dis-
of a wide range of national organizations, abilities and includes chapters on intellectual
federal agencies, information sources, self- disability, Down syndrome, inborn errors of
advocacy and accessibility programs, and metabolism, psychiatric disorders in develop-
support groups that can provide assistance mental disabilities, autism spectrum disorders,
to families and professionals. attention-deficit/hyperactivity disorder, spe-
cific learning disabilities, cerebral palsy, neu-
CONTENT ral tube defects, epilepsy, and traumatic brain
In developing this seventh edition, we have injury. The final section, Interventions, Fami-
aimed for a balance between consistency with lies, and Outcomes, contains chapters that
the text that many of you have come to know focus on various interventions, including early
so well in its previous editions and innovation intervention and special education services,
in exploring the new topics that demand our feeding, dental care, behavioral assessment
attention. All chapters have been substan- and support, assistive technology, and physi-
tially revised and many have been rewritten cal and occupational therapy. This section also
to include an expanded focus on psychoso- concentrates on the ethical, legal, emotional,
cial, rehabilitative, and educational inter- and transition-to-adulthood issues that are
ventions as well as to provide information common to most families of children with dis-
discovered through educational, medical, abilities and to professionals who work with
and scientific advances since 2007. In addi- them. The book closes with a discussion of the
tion, four new chapters have been added to prospects for providing health care in the 21st
address the following topics: 1) the new face century.
of developmental disabilities (long-term out-
comes of previously fatal disorders), 2) novel THE AUTHORS AND EDITORS
therapies and treatment efficacy (alternative Nancy J. Roizen joined me as an editor for
medicine), 3) understanding and using neu- the sixth edition of the text. Like me, she is
rocognitive assessment, and 4) diagnosing a a neurodevelomental pediatrician. Gaetano
child with developmental disabilities. They R. Lotrecchiano, an educator for interdisci-
focus on recently gained knowledge that is plinary training in developmental disabili-
transforming our understanding of the causes ties, joined as an editor on this edition. We
of developmental disabilities. have chosen physicians, psychologists, social
The chapters are grouped into sections workers, therapists, and other health care
and have been organized to help guide read- professionals who are experts in the areas
ers through the breadth of content. The book they write about as authors of Children with
starts with a section titled As Life Begins, Disabilities. Many are colleagues from Chil-
which addresses what happens before, dur- dren’s National Medical Center in Wash-
ing, or shortly after birth to cause a child to ington, D.C. Each chapter in the book has
be at increased risk to manifest a developmen- undergone editing at Paul H. Brookes Pub-
tal disability. The concepts and consequences lishing Co. to ensure consistency in style and
of genetics, embryology, infections and fetal accessibility of content. Once the initial drafts
Preface xxv
were completed, each chapter was sent for interventions, thus emphasizing the capa-
peer review by major clinical and academic bilities rather than the impairments of
leaders in the field and was revised according individuals with intellectual disability.
to their input. • “Typical” and “normal”—Recognizing
diversity and the fact that no one type
A FEW NOTES ABOUT of person or lifestyle is inherently “nor-
TERMINOLOGY AND STYLE mal,” we have chosen to refer to the gen-
As is the case with any book of this scope, the eral population of children as “typical” or
editor or author faces decisions about the use “typically developing,” meaning that they
of particular words or the presentation style follow the natural continuum of develop-
of information. We would like to share with ment.
you some of the decisions we have made for • Person-first language—We have tried to
this book. preserve the dignity and personhood of
• Categories of intellectual disability—This all individuals with disabilities by consis-
book uses the American Psychiatric Asso- tently using person-first language, speak-
ciation’s categories according to the term ing, for example, of “a child with autism,”
mental retardation (i.e., mild, moderate, instead of “an autistic child.” In this way,
severe, profound) when discussing medi- we are able to emphasize the person, not
cal diagnosis and treatment and uses the define him or her by the condition.
categories that the American Association As you read this seventh edition of Chil-
on Intellectual and Developmental Dis- dren with Disabilities, we hope you will find
abilities (formerly the American Associa- that the text continues to address the fre-
tion on Mental Retardation) established quently asked question “Why this child?”
in 1992 (i.e., requiring limited, inter- and to provide the medical background you
mittent, extensive, or pervasive support) need to care for children with developmental
when discussing educational and other disabilities.
Acknowledgments
We would like to thank our colleagues at Paul Seth Canion, Charles J. Conlon, Philip W.
H. Brookes Publishing Co. for their great Davidson, Carolyn Drews-Botsch, Ann-
help. Steve Plocher served as Associate Editor Christine Duhaime, Diana M. Escolar, Sara
for the text and Johanna Cantler as Acquisi- Helen Evans, Erynn S. Gordon, Karl F.
tions Editor, and both provided developmen- Gumpper, Michael J. Guralnick, William
tal oversight of the project; Danica Crittenden H.J. Haffner, Mark L. Helpin, Janet S. Isaacs,
assisted with the review process. A book such Dorothy O. Jones, Annie Kennedy, Carol
as Children with Disabilities is best understood A. Knightly, Alan E. Kohrt , Lisa A. Kurtz,
with illustrations that help to explain medical Mary F. Lazar, Sheryl J. Menacker, Gretchen
concepts. An expert medical illustrator is cru- A. Meyer, Linda J. Michaud, Gary J. Myers,
cial in this effort. Lynn Reynolds has contrib- Man Wai Ng, Jeffrey P. Rabin, Mark Reber,
uted to this endeavor in both past editions and Howard M. Rosenberg, Andrew J. Satin,
with new additions in this volume. We deeply Tomas Jose Silber, Harvey S. Singer, Annie
acknowledge her important contribution. G. Steinberg, Ana Carolina Tesi Rocha, Cyn-
We also gratefully acknowledge Arlene Gen- thia J. Tifft, Laura L. Tosi, Kenneth E. Tow-
dron, who helped organize the project as well bin, Symme Wilson Trachtenberg, Mendel
as contributed to the book’s appendixes. We Tuchman, Kim Van Naarden Braun, Shari L.
thank previous contributors whose work on Wade, Steven L. Weinstein, and Marshalyn
the sixth edition laid an excellent foundation Yeargin-Allsopp. Finally, many of our col-
for this text: Terry Adirim, Karen Batshaw, leagues reviewed and edited the manuscript
Michael Batshaw, Michael J. Bell, Nathan for content and accuracy, and we would like
J. Blum, Jill E. Brown, W. Bryan Burnette, to acknowledge their efforts.
xxvi
Why me?
Why me?
Why do I have to do so much more than others?
Why am I so forgetful?
Why am I so hyperactive?
And why can’t I spell?
Why me? O’why me?
I remember when I almost failed first grade because I couldn’t read. I

would cry hour after hour because my mother would try to make me read.
Now I love to read. I couldn’t write in cursive but my mother helped me
and now I can. I don’t have as bad a learning disability as others. At lest
I can go to a normal school. I am trying as hard as I can (I just hope it is
enough). My worst nightmare is to go to a special school because I don’t
want to be treated differently.
I am getting to like working. I guess since my dad is so successful and has
a learning disability, it helps make me not want to give up. Many people
say that I am smart, but sometimes I doubt it. I am very good at math, but
sometimes I read a number like 169 as 196, so that messes things up. I also
hear things incorrectly, for instants entrepreneur as horse manure (that
really happened). I guess the reason why a lot of people don’t like me is
because I say the wrong answer a lot of times.
I had to take medication, but then I got off the medication and did well.
Then in 7th grade I wasn’t doing well but I didn’t tell my parents because
I thought they would just scream at me. My dad talked to the guidance
counselor and found out. It wasn’t till a week ago that I started on the
medication again; I have been doing fine since than. As I have been getting
more organized, I have had more free time. I guess I feel good when I
succeed in things that take hard work.
This is my true story. . .
Andrew Batshaw
1989
xxvii
In applying to colleges during my senior year of high school, I found that
most had as an essay topic, “Tell us something about yourself.” I decided to
write about my ADHD and learning disability as it is a big part of who I am.
I wrote “I have found that while a disability inherently leaves you with a
weakness, adapting to that disability can provide rewards. I feel that from
coping with my disability, I have gained pride, determination, and a
strength that will be with me all of my life.” I guess Vassar College agreed;
they admitted me.
When it came time for high school graduation, we had a problem. My sister
was graduating from the University of Chicago on the same day that I gradu-
ated from high school in Philadelphia. The only solution was for one parent
to attend my graduation while the other one was with my sister in Chicago.
The decision as to who would go to which graduation was easy. My mother
insisted that she attend my graduation because it was a product of her hard
work as well as my own. I remember she said to me that day, “When I think
of the boy who cried himself to sleep because he could not remember how to
spell the word ‘who,’ it makes me so happy to see you now.”
My parents expressed themselves in different ways about my leaving for
college. My mother and I found ourselves getting into many arguments over
simple things (the old severing of the umbilical cord; I am the baby of the
family). My father, however, made sure to remind me to start my stimulant
medication 2 weeks before classes began!
The first semester I took four courses: Poetry, Linear Algebra, Computer Sci-
ence, and Music Theory. As the semester continued, I developed an increas-
ing interest in computer science, until finally I decided to become a computer
science major. I was very flattered, however, when during a meeting with my
English professor, she asked if I planned to be an English major. To think that
someone who could not read until the end of second grade would become a
member of the Vassar English department seemed almost unbelievable. Well,
I might have been proud but not that proud. I stuck with computer science.
On the whole, I would say that my freshman year was a good one. I learned a
great deal, both inside and outside of classes, about myself and others. What
will I do after college? What will I end up doing with my life? These are
questions that continually run through my mind. I have no clear answers,
but there is one thing of which I am sure: My disability will not keep me
from doing anything. I will not let it.
AndrewBatshaw
Andrew Batshaw
June 1996
1996
xxviii
As a college graduate, I find that my ADHD and learning disabilities are much
less of an issue; however, that was not the case during my early college years.
In my second year of college, I took a year-long introductory German class
that fulfilled my language requirement. Forgetting that languages don’t come
easily to me, I chose the intensive German class that met an extra day a week
and moved faster than the regular class. I watched my exam grades slowly slide
into the C range during the first semester and decided to switch to the regular
class for the rest of the year. While this was happening, some medical
warnings were issued concerning the stimulant medication I was taking,
so I decided to discontinue its use.
In the new German class, we had exams every other week, so I received regu-
lar feedback on how I was doing. Unfortunately, it was not positive feedback.
After receiving an F on the first quiz, I decided that I needed to work harder in
the class. I started studying more and was less than relieved when on my next
exam my grade rose to a D! Again, I studied even more and still received a
D on the test that followed. At this point, I began to doubt myself. I felt like
I was doing everything I could, and still I wasn’t improving. I said to myself,
“I know you have always told yourself that you could do anything you really
gave your all to, but maybe there are just some things you can’t do.” I was
disheartened, but felt that I had no choice but to just keep working. I received
a C and then a C+ on my next two exams, but my overall class grade was still
very low. My professor spoke to me and said that as long as I received at least a
C+ on the final exam, he would pass me. I did all I could to prepare for the test
and took the exam without reservation, simply willing to accept the results,
whatever they might be. I ran into my professor a week after the final exam
and was told that not only had I passed the final exam, but that I had received
an A, one of the highest grades in the class. As you might expect, I was
ecstatic. I looked back on the day when I had thought, “Maybe there really are
things that I just can’t do,” and smiled, because I proved myself wrong. On top
of that, I had accomplished it without the help of medication. That was when I
truly felt that I had overcome my ADHD and learning disabilities.
In fact, some of the most important activities in my life are things that at first
glance you wouldn’t think someone with ADHD would find attractive. I medi-
tate every day, which involves sitting in one place and not moving for long pe-
riods of time. When I meditate, I am actually watching how my mind works.
I see how easily I am distracted from simply sitting by thinking about all kinds
of things, like what I did yesterday or what I am going to do later. Neverthe-
less, I keep bringing myself back, over and over again, and sometimes my
mind becomes very quiet and clear. I find that this has had a positive impact
xxix
on all aspects of my life. I was talking with my older brother, Michael, after
attending my first 3-day meditation retreat, and he told me how proud he was
of me. He said that after seeing me bounce off the walls and have such diffi-
culty concentrating while growing up, he was amazed that I could sit still and
meditate for 3 days.
After 4 years, including 6 months at the University of York in England, I
graduated from Vassar College with a B.A. in Computer Science in May 1999.
After graduation, I worked for a year as a software engineer and then started
my own company with my brother and a friend. Unfortunately, after devel-
oping the company for a year, we became one of the many casualties of the
dot-com collapse. Naturally, I was very disappointed, but it was an incredible
experience that I will always value. It sparked in me a passion for entrepre-
neurship that led to my decision to attend business school.
Throughout the process of applying to business school, it became clear to me
how my learning disability had been transformed from a hindrance to an asset.
The work habits I had developed to overcome my disability allowed me to
stick to a rigorous preparation program for my business school entrance
exams. As a result, I scored in the 98th percentile. In addition, when preparing
my applications, I chose to include an essay about how overcoming a disability
had taught me to treat failure as a natural and necessary part of important
accomplishments. Furthermore, it instilled in me a drive to achieve and to
take calculated risks that are essential to being successful in business. I will be
attending the University of Southern California Business School with a full
scholarship.
Drew Batshaw
April
2002 2002
xxx
Five eventful years have passed since I wrote my foreword to the fifth edition
of this text. I graduated from business school, fell in love and married an amaz-
ing woman, and have been pursuing a career in business. Through all of these
experiences, my ADHD and learning disability continue to impact my life in
both subtle and not-so-subtle ways.
At the end of my last letter, I spoke about pursuing an MBA at the University
of Southern California. My experience in business school was positive, both
academically and socially. I’d come a long way from my childhood struggles;
my ADHD and learning deficits had little effect on my performance. I ex-
celled, my teachers respected me, and other students regularly sought me out
to work on projects with them.
For me, business school was easier than college for a number of reasons. The
subject matter was generally more engaging and played to my strengths: think-
ing on my feet, presenting ideas orally, and using analytical reasoning. In addi-
tion, much of the learning took place in an interactive and experiential envi-
ronment that kept my interest and attention. For example, we discussed real
situations that companies have had in the past and how we would have man-
aged them, and we role-played as consultants with 90 minutes to prepare a
thorough presentation for the class. Another significant factor was that writing
(which historically has been my most challenging form of communication) is
different and easier for me in a business setting than an academic one. In busi-
ness writing, lengthy discourse is discouraged and traditional writing rules are
far less important than presenting information in a clear and concise way; plus,
of course, I’d had many years to hone my writing skills since I entered Vassar.
Finally, I’d learned to manage my disability and identify environments like
business school where I would be most successful.
After graduating with my MBA, I launched a company that provided coaching
services for young executives and business owners. My job as a coach was to as-
sist clients in their effectively working through problems, as opposed to the
traditional consultant model of doing the work for them. After about 18
months, I realized that my heart was no longer in building the business; I
missed managing tangible projects and found coaching to be lonely. I had
many clients but no peers to interact with on a daily basis. I then moved to my
current job, where I run the operations and technology of an education tech-
nology company that helps low-income children improve their reading skills.
It is very satisfying to be involved in a business that helps children who have
reading difficulties like I had. In contrast to the coaching work, this job allows
me to manage many different projects and work with a great team.
xxxi
I have also found that I reap unexpected benefits from my ADHD. Profession-
ally, I am known for my ability to effectively problem-solve with limited infor-
mation. Unlike others who are intimidated by their lack of knowledge or in-
formation, I delight in jumping right into the problem and figuring it out as I
go (much like how I used to raise my hand all the time in grade school even
though I didn’t know the answer). In addition, I juggle many different projects
and priorities with finesse. I thrive in environments that offer variety, allow me
to wear many different hats, and require the use of a broad set of skills
throughout the course of each day. Perhaps because of this I have changed jobs
every 1 to 2 years since graduating from college (7 years ago): I have been a
software developer, a dot-com founder, a business school student, and an exec-
utive coach, and now I am a manager of technology and finance. When I first
start a job, I’m very excited and engaged in the work, but after I become profi-
cient, I start to itch to do something different. Does my ADHD cause me to
need a certain kind of sustained and varied stimulation that I have not yet
found? I’m not sure, but I do know that I require a high level of change and
stimulation to stay engaged and productive.
My ADHD impacted my early adulthood in other ways. For many years, no
matter how much I achieved or how well I succeeded, I was still left with the
shame of not being good enough during my formative years. As a child, my
disability affected my self-image as well as my academic performance. Despite
my mother telling me, “You are intelligent. It’s just your learning disability that
affects how you do in school,” I still measured my worth in comparison to
everyone else—for example, how far I got in a spelling bee, how long it took
me to read a book, or what grade I received on a writing assignment. Through
much of my twenties, when something didn’t go well in my life—profession-
ally, personally, or sometimes even when I was just sick—I would feel like that
little boy again who just couldn’t do anything right. I can see now that no
amount of achievement would have transformed those feelings of inadequacy.
What has helped me most in dealing with this legacy is counseling and reward-
ing intimate relationships. Counseling has helped me to recognize when this
old shame is triggered and how to notice it and move on. Through intimate
relationships, I’ve come to understand and own my worth in a greater sense—
how I offer so much more than just what I can achieve. For example, I have a
positive impact on others by just being in their lives, and I can move people
with my emotions and words. These things are all effortless. I don’t have to try
or work hard to make them happen. They simply occur as a natural result of
who I am inherently.
xxxii
My greatest teacher in this has been my wife, Amy. We were married in August
2005 after dating for 2 years. Her capacity for love, joy, and compassion
amazes me. While preparing this letter, I asked her how my disability impacts
our relationship. She smiled and said, “Well, you don’t like to wash the dishes
or go clothes shopping with me!” Much as I’d like to blame that on ADHD,
I’m not sure that would be fair. What I have noticed are some of Amy’s quali-
ties that make her an especially good match for someone like me with ADHD.
Professionally, she is a coach and organizing consultant, and, as a result, natu-
rally provides structure and organization to our lives. In addition, she gives me
a lot of space and honors the transition time I need between being by myself
and being with her. Finally, she is very accepting and offers me constant
appreciation and encouragement. I am a lucky man!
In sum, I lead an extraordinarily blissful life. I have a wonderful wife, my
current work is stimulating and meaningful, and my relationships with family
and friends are warm and fulfilling. I am immensely grateful for all I have been
given and all I have been able to accomplish—in spite of and because of my
disability.
Andrew Batshaw
2007
xxxiii
IReflecting
have also on found
the that
impactI reap unexpected
of my learning benefits
disabilityfrom and my ADHD ADHD. on my Profession-
current
ally,
life, I am known for my ability to effectively problem-solve
struck by how little impact I still feel. At the age of 33, I appreciate with limited infor-
mation.
the fact that my learning disability and ADHD are not at the heart of anyin-
Unlike others who are intimidated by their lack of knowledge or of
formation,
my current Istruggles:
delight inMy jumping
lack ofright
sleep,into
lackthe ofproblem
free timeand andfiguring
lack of it outwith
time as I
go
my(much
wife can likeallhow I used to raise
be attributed my hand
to having twoall the children
small time in grade(Gia, school
3½ andeven Mika,
though
18 months). I did not anticipate all the challenges that having childrenprojects
I didn’t know the answer). In addition, I juggle many different would
and priorities
create. with finesse.
For example, when Imy thrive
wife,inAmy,environments
and I are both that offer variety,
exhausted andallow
sleepme
to wear many different hats, and require the use of a broad
deprived, it is really difficult to find energy for the activities that nourish our set of skills
throughout
relationship.the Wecourse
have to of work
each day.
hardPerhaps
to find the because
energy of and
this make
I havethe changed
time for jobs
every 1 to 2 years since graduating from college (7 years
these activities. It has been worth the effort and I am delighted that as Gia ago): I have been a
software
and Mikadeveloper,
get older it’s a dot-com founder,
getting easier anda easier.
business school
There student, and
is something an exec-
satisfying
utive coach, and now I am a manager of technology
about being challenged not by my disability, but by things that are difficult and finance. When I first
for
start a job, I’m very
most parents with young kids.excited and engaged in the work, but after I become profi-
cient, I start to itch to do something different. Does my ADHD cause me to
I can aconfidently
need certain kind sayofthat I no longer
sustained need to
and varied manage my
stimulation thatdisability.
I have not I have
yet
overcome most of it and view any remnants as the
found? I’m not sure, but I do know that I require a high level of change andsame challenges everyone
faces. Some to
stimulation challenges
stay engaged include:
and Iproductive.
prefer to be able to structure my own work;
I get stressed at work when I have multiple items with close deadlines that
My
aren’tADHD
movable;impacted
Whenmy I amearly
withadulthood
my kids, in othertoways.
I need workFor hard many
to stayyears, no
present
matter
and nothow thinkmuch
about I achieved
other things.or how well Ibuild
I could succeeded,
a case forI washowstill leftof
each with the
these
shame
challengesof notarebeing
rooted good
in myenough during
disability butmy formative
I don’t because years.
in theAs end,
a child,they myare
disability affected
like any other my Iself-image
factors work withastowell as my
create theacademic performance.
best life that I can. So, Despite
I choose
my
jobsmother
where Itelling
will beme, able“You are intelligent.
to structure my work. It’s Also,
just your
I setlearning
up processes disability
to that
affects
minimize how you do in
deadlines school,”
being I still mea
set without mysured my worth When
consideration. in comparison
I notice to I am
everyone
not beingelse—for
present with example,
my kids,howI far I gotwhat
change in a spelling
I am doing bee,sohow longbe
I won’t it took
as dis-
me to read
tracted. a book,
Doing these orthings
what gradehappensI received
naturally. on For
a writing
example, assignment.
I am simply Through
more
much
attractedof my twenties,
to work when something
environments where Ididn’t go well in
can structure mymy life—profession-
work. When I start
ally,
a new personally,
job, I don’t ormethodically
sometimes even createwhen I was just
processes sick—I would
to minimize feel like
deadlines that
without
little boy again who
my consideration; it just
just couldn’t
happens do anything
in the way I right.
establishI can see now
working that no
relationships.
amount
I believeofthatachievement
managing would have transformed
my disability shaped the those ways Ifeelings of inadequacy.
now automatically
manage myself, my work environment and
What has helped me most in dealing with this legacy is counseling my personal life. As a result, I can
and reward-
go months without even thinking about the fact that
ing intimate relationships. Counseling has helped me to recognize when this I have a disability (in fact,
Iold
amshame
tempted to say “had” a disability instead of “have”).
is triggered and how to notice it and move on. Through intimate
relationships,
The one trigger I’vethat
come to understand
reconnects me to and own my worth
the emotions in a greater
of growing up withsense—
a dis-
how I offer so much more than just what I can achieve. For example,
ability is witnessing others with disabilities. A few years ago, I happened I have a
across
positive impact on others by just being in their lives, and I can
a Craigslist ad written by an older brother. He wanted to buy an inexpensivemove people
with
videomy emotions
game systemand words.
to play withThese things
his little are allwho
brother effortless. I don’t physical)
had (I believe have to try
or
disabilities. He didn’t need the latest generation system; he just wanted to of
work hard to make them happen. They simply occur as a natural result find
who
a wayI to
amconnect
inherently.
and play because things were so challenging for his brother.
His thoughtfulness and commitment to creating joy for his brother still move
me today.
xxxiv
Fourgreatest
My years ago in myinlast
teacher thisletter, I mentioned
has been my wife, my Amy.concern
We were about changing
married jobs
in August
frequently
2005 and needing
after dating a lot of
for 2 years. Hervaried stimulation.
capacity for love,Ijoy,
am and
happy to report that
compassion
my current
amazes me. job
Whilehas preparing
the potentialthisfor me to
letter, remain
I asked hersufficiently challenged
how my disability and
impacts
satisfied
our for manyShe
relationship. years. As the
smiled andDirector of Product
said, “Well, you don’tDevelopment
like to washfor thea dishes
small
technology
or go clothescompany,
shoppingI with
have me!”
just theMuchrightasmix of activities:
I’d like to blameIthatspendonabout
ADHD, 50%
of my
I’m nottime
surewriting software
that would (coding)
be fair. Whatand thenoticed
I have other 50% managing
are some of Amy’s people and
quali-
projects.
ties In addition,
that make my job desires
her an especially goodhavematch shifted a little since
for someone having
like me withchildren.
ADHD.
Work stability and
Professionally, predictability
she is a coach and have become
organizing more important
consultant, and, as financially,
a result, natu- and
also provide
rally providesa structure
balance toandall of the constant
organization to change andInstimulation
our lives. addition, she at home.
gives me
a lot of space and honors the transition time I need between being by myself
As I think back to the writing of my previous letters, I see a reassuring arc in
and being with her. Finally, she is very accepting and offers me constant
my relationship with my disability. At first my identity was inextricably tied to
appreciation and encouragement. I am a lucky man!
being someone with learning disabilities. As I began to achieve success in spite
In sum, I Ilead
of them, sawan extraordinarily
myself as someoneblissful
who was life.overcoming
I have a wonderful wife,
disabilities. my
Further
current work is stimulating
into adulthood, I was someone andminimally
meaningful, and myby
impacted relationships
disabilities.with
And family
today,
and friends
I don’t evenare warm
think and fulfilling.
of myself as having I am immensely
disabilities. grateful
It has beenfor all aI have
quite ride, been
and
given
I lookand all I have
forward been
to what able to
comes accomplish—in spite of and because of my
next.
disability.
Andrew Batshaw
Andrew Batshaw
2011
2007
xxxv
This book is dedicated to all of the families we have been honored to serve and to the
health care professionals we have taught so they could care for children with disabilities.
We would also like to dedicate this book to Greg Liptak, M.D., a developmental pediatrician
and an author in this text who made major contributions to the field of children with disabilities.
His recent death has been a major loss to the field and to the children and families he served.
I
As Life Begins
1 Genetics and
Developmental
Disabilities
Mark L. Batshaw, Andrea Gropman, and Brendan Lanpher
Upon completion of this chapter, the reader will

■ Know about the human genome and its implication for the origins of develop-
mental disabilities
■ Be able to explain errors in mitosis and meiosis, including nondisjunction, trans-
location, and deletion
■ Know the differences and similarities among autosomal recessive, autosomal
dominant, and X-linked genetic disorders
■ Understand epigenetics and the related concepts of genomic imprinting and
copy number variation
■ Understand the ways that genes can be affected by the environment in which
they reside
Whether we have brown or blue eyes is deter- spectrum are disorders that are almost purely
mined by genes passed on to us from our par- environmentally induced, including infectious
ents. Other traits, such as height and weight, diseases such as cytomegalovirus and those
are affected by genes and by our environment caused by teratogens like alcohol (see Chap-
both before and after birth. In a similar manner, ter 3). Then there are conditions in which
genes alone or in combination with environ- genes are affected by their environment lead-
mental factors can place children at increased ing to epigenetic disorders such as fragile X and
risk for many developmental disorders, includ- Angelman syndrome. As an introduction to the
ing birth defects such as meningomyelocoele or discussion in the chapters that follow, this chap-
spina bifida (see Chapter 4). The spectrum of ter describes the human cell and explains what
disorders that leads to developmental disabili- chromosomes and genes are. It also reviews
ties has a range of genetic and environmental and provides some illustrations and examples
causes. Some disorders are purely genetic, such of the errors that can occur in the processes
as Rett syndrome and certain forms of muscular of meiosis (cell division) and mitosis (cell
dystrophy (see Chapter 19), which result from a reproduction), discusses inheritance patterns
single-gene defect, and Down syndrome (see of single-gene disorders, and presents the new
Chapter 18), which results from an extra chro- concept of epigenetics. As you progress through
mosome (aneuploidy). At the other end of the this book, bear in mind that the purpose of this
3
4 Batshaw, Gropman, and Lanpher
discussion is to focus on the abnormalities that GENETIC DISORDERS

can occur in human development. These disor-
ders are typically rare, however, genetic mecha- The human body is composed of approxi-
nisms underlie a large proportion of childhood mately 100 trillion cells. There are many cell
disease and disability. types, including nerve cells, muscle cells, white
blood cells, and skin cells, to name a few. All
■ ■ ■ KATY cells except for the red blood cell are divided
into two compartments: 1) a central, enclosed
Katy was developing typically until she was core—the nucleus; and 2) an outer area—the
2 years old, when she started to have episodes of cytoplasm (Figure 1.1). The red blood cell dif-
vomiting and lethargy after high-protein meals. fers insofar as it does not have a nucleus. The
Her parents became very concerned because nucleus houses chromosomes, structures that
their older son, Andrew, had died in infancy after contain the genetic code (deoxyribonucleic
lethargy and seizures were followed by coma, acid; DNA), which is organized into hundreds
although no specific diagnosis had been made. of units of heredity (genes) in each chromo-
With extensive testing by a genetic metabolic some. These genes are responsible for physical
specialist, Katy was discovered to have an error attributes and biological functioning. Under
the direction of the genes, the products that
(mutation) in the gene that codes for ornithine
are needed for the organism’s development and
transcarbamylase (OTC), an enzyme that pre-
functions, such as waste disposal and the release
vents the accumulation of ammonia in body and of energy, are made in the cytoplasm. The
brain that can lead to coma. The OTC gene is nucleus, then, contains the blueprint for the
located on the X chromosome so its deficiency organism’s growth and development, and the
is inherited as an X-linked disorder. Because cytoplasm manufactures the products needed to
girls have two X chromosomes, one with the complete the task.
mutation and one normal copy, they are there- When there is a defect within this system,
fore less likely to be affected than boys and, the result may be a genetic disorder. These dis-
when affected, they generally have less severe orders take many forms. They include the addi-
manifestations. It turns out that Andrew also tion of an entire chromosome in each cell (e.g.,
Down syndrome), the loss of an entire chromo-
carried this mutation. Katy was placed on a low-
some in each cell (e.g., Turner syndrome; aneu-
protein diet and given medication to provide an
ploidy), and the loss or deletion of a significant
alternate pathway to rid the body of ammonia, portion of a chromosome (e.g., Cri-du-chat
and she has done well. Now age 7, it looks like syndrome). There can also be a microdeletion
she may have a mild nonverbal learning disabil- of a number of closely spaced or contiguous
ity; if Katy had been left untreated, she would genes within a chromosome (e.g., chromosome
probably not be alive. 22q11.2 deletion syndrome or velocardiofacial
Figure 1.1. An idealized cell. The genes within chromosomes direct the cre-
ation of a product on the ribosomes. The product is then packaged in the Golgi
apparatus and released from the cell.
Genetics and Developmental Disablities 5
syndrome [VCFS]), which may have varied only in the germ cells in order to create sperm
expression depending on environmental influ- and eggs.
ences (Gothelf, Schaer, & Eliez, 2008). Finally, The ability of cells to continue to undergo
there can be a defect within a single gene (e.g., mitosis throughout the life span is essential for
phenylketonuria) or altered expression of the proper bodily functioning. Cells divide at dif-
gene (e.g., Rett syndrome). This chapter dis- ferent rates, however, ranging from once every
cusses each of these types of genetic defects, 10 hours for skin cells to once a year for liver
beginning with a discussion of chromosomes cells. This is why a skin abrasion heals in a few
and problems in their division. days, but the liver may take a year to recover
from hepatitis. By adulthood, some cells,
including neurons and muscle cells, appear to
CHROMOSOMES have a significantly decreased ability to divide.
Each organism has a fixed number of chromo- This limits the body’s capacity to recover after
somes that direct the cell’s activities. In each medical events such as strokes or from injuries.
human cell, there are 46 chromosomes. Gen- One of the primary differences between
erally speaking, each chromosome contains mitosis and meiosis can be seen during the first
hundreds of genes, but some chromosomes of the two meiotic divisions. During this cell
have more (e.g., 500–800 gene loci in chro- division, the corresponding chromosomes line
mosomes 1, 19, and X) and others have fewer up beside each other in pairs (e.g., both cop-
(50–120 in chromosomes 13, 18, 21, and Y). ies of chromosome 1 line up together). Unlike
The 46 chromosomes are organized into 23 in mitosis, however, they intertwine and may
pairs. Normally, one chromosome in each pair “cross over,” exchanging genetic material,
comes from the mother and the other chromo- which adds variability (Figure 1.2). Although
some comes from the father. Egg and sperm this crossing over (or recombination) of the
cells, unlike all other human cells, each con- chromosomes may result in disorders (e.g.,
tain only 23 chromosomes. During conception, deletions), it also allows for the mutual trans-
these germ cells fuse to produce a fertilized egg fer of genetic information, reducing the chance
with the full complement of 46 chromosomes. that siblings end up as exact copies (clones)
Among the 23 pairs of chromosomes, 22 of each other. Some of the variability among
are termed autosomes. The 23rd pair con- siblings can also be attributed to the random
sists of the X and Y chromosomes, or the sex assortment of maternal and paternal chromo-
chromosomes. The Y chromosome, which somes during the first of two meiotic divisions.
determines “maleness,” is one third to one half
the size of the X chromosome, has a different
shape, and has far fewer genes. Two X chro-
mosomes determine the child to be female; an
X and a Y chromosome determine the child to
be male.
CELL DIVISION AND ITS DISORDERS

Cells have the ability to divide into daughter
cells that contain genetic information that is
identical to the information from the parent
cell. The prenatal development of a human
being is accomplished through cell division, dif-
ferentiation into different cell types, and move- Chiasma
ment of cells to different locations in the body.
There are two kinds of cell division: mitosis
and meiosis. In mitosis, or nonreductive divi-
sion, two daughter cells, each containing 46
chromosomes, are formed from one parent cell. Figure 1.2. The process of crossing over (i.e., recombi-
In meiosis, or reductive division, four daughter nation) at a chiasma permits exchange of genetic material
cells, each containing only 23 chromosomes, among chromosomes and accounts for much of the genetic
variability of human traits. In this illustration, there is an
are formed from one parent cell. Although exchange between two chromosomes at the banding area
mitosis occurs in all cells, meiosis takes place labeled B. (Source: Jorde, Carey, & Bamshad, 2001.)
Throughout the life span of the male, meiosis of disorders at birth, probably because these chro-
the immature sperm produces spermatocytes mosomes contain a relatively small number of
with 23 chromosomes each. These cells will gene loci and their disruption does not cause
lose most of their cytoplasm, sprout tails, and death, even though it does cause severe devel-
become mature sperm. This process is termed opmental disabilities (Parker et al., 2003).
spermatogenesis. In the female, meiosis forms The majority of fetuses carrying chro-
oocytes that will ultimately become mature mosomal abnormalities are spontaneously
eggs, in a process called oogenesis. By the time aborted. Among those children who survive
a girl is born, her body has produced all of the these genetic missteps, intellectual disability,
approximately 2 million eggs she will ever have. unusual (dysmorphic) facial appearances, and
A number of events that adversely affect a various congenital organ malformations are
child’s development can occur during meiosis common. In the general population, chromo-
(Hassold, Hall, & Hunt, 2007). When chro- somal errors causing disorders occur in 6–9 per
mosomes divide unequally, a process known 1,000 of all live births. In children who have
as nondisjunction occurs: One daughter egg intellectual disability, however, the prevalence
or sperm contains 24 chromosomes and the of chromosomal abnormality increases 10- to
other 22 chromosomes. Usually, these cells do 40-fold (Flint et al., 1995).
not survive, but occasionally they do and can
lead to the child being born with too many
chromosomes (e.g., Down syndrome) or too Chromosomal Gain: Down Syndrome
few chromosomes (e.g., Turner syndrome). It The most frequent chromosomal abnormality
is interesting to note that the most commonly is nondisjunction of autosomes, and the most
found trisomy in miscarriages is trisomy 16, common clinical consequence is trisomy 21, or
but embryos with trisomy 16 are never carried Down syndrome (Wiseman, Alford, Tybule-
to term (Brown, 2008). The chromosome 16 wicz, & Fisher, 2009; see Chapter 18). Non-
contains so many genes important to develop- disjunction can occur during either mitosis or
ment that its disruption is incompatible with meiosis but is more common in meiosis (Fig-
life. Conversely, trisomies 13, 18, and 21 are ure 1.3). When nondisjunction occurs dur-
the most commonly observed chromosomal ing the first meiotic division, both copies of
Figure 1.3. Nondisjunction of chromosome 21 in meiosis. Unequal division during meiosis I or meiosis II can
result in trisomy or monosomy.
chromosome 21 end up in one cell. Instead of conceptions appear to be miscarried (Morgan,

an equal distribution of chromosomes among 2007). Females with Turner syndrome (1 in
cells (23 each), one daughter cell receives every 5,000 live births) have a single X chromo-
24 chromosomes and the other receives only some and no second X or Y chromosome, for
22. The cell containing 22 chromosomes is a total of 45, rather than 46, chromosomes. In
unable to survive. However, the egg (or sperm) contrast to Down syndrome, 80% of individu-
with 24 chromosomes occasionally can survive. als with monosomy X conditions are affected
After fertilization with a sperm (or egg) con- by meiotic errors in sperm production; these
taining 23 chromosomes, the resulting embryo children usually receive an X chromosome from
contains three copies of chromosome 21, or tri- their mothers but no sex chromosome from
somy 21. The child will be born with 47 rather their fathers.
than 46 chromsomes in each cell and have Girls with Turner syndrome have short
Down syndrome (Figure 1.4). stature, a webbed neck, a broad “shield-like”
A majority of individuals with Down syn- chest with widely spaced nipples, and nonfunc-
drome (approximately 90%) acquire it as a result tional ovaries. Twenty percent have obstruction
of a nondisjunction during meiosis in oogenesis; of the left side of the heart, most commonly
about 5% acquire Down syndrome from non- caused by a coarctation of the aorta. Unlike
disjunction during spermatogenesis (Soares, children with Down syndrome, most girls with
Templado, & Blanco, 2001). This disparity is Turner syndrome have typical intelligence.
partially due to the increased rate of autoso- They do, however, have visual–perceptual
mal nondisjunction in egg production, but also impairments that predispose them to develop
to the lack of viability of sperm with an extra nonverbal learning disabilities (Hong, Scaletta
chromosome 21. Another 3%–4% of individuals Kent, & Kesler, 2009). Human growth hor-
acquire Down syndrome as a result of translo- mone injections have been effective in increas-
cation (discussed later) and 1%–2% acquire it ing height in girls with Turner syndrome, and
from mosaicism (some cells being affected and estrogen supplementation can lead to the
others not; this is also discussed later). emergence of secondary sexual characteristics;
however, these girls remain infertile.
Chromosomal Loss: Turner Syndrome
Turner syndrome (sometimes called 45,X, Mosaicism
which describes its genetic construction), affects In mosaicism, different cells have a differ-
girls. It is the only disorder in which a fetus ent genetic makeup (Conlin et al., 2010). For
can survive despite the loss of an entire chro- example, a child with the mosaic form of Down
mosome. Even so, more than 99% of the 45,X syndrome may have trisomy 21 in blood cells
Figure 1.4. Karyotype of a boy with Down syndrome (47, XY). Note that the child has 47 chro-
mosomes; the extra one is a chromosome 21.
but not in skin cells; or the individual may Deletions

have trisomy 21 in some, but not all, brain Another somewhat common dysfunction in
cells. Children with mosaicism often appear as cell division is deletion. Here, part, but not all
though they have a particular condition (in this of a chromosome is lost. Chromosomal dele-
example, Down syndrome); however, the physi- tions occur in two forms, visible deletions and
cal abnormalities and cognitive impairments microdeletions. Those that are large enough to
may be less severe. Usually mosaicism occurs be seen through the microscope are called vis-
when some cells in a trisomy conception lose ible deletions. Those that are so small that they
the extra chromosome via nondisjunction dur- can only be detected at the molecular level are
ing mitosis. Mosaicism also can occur if some called microdeletions.
cells lose a chromosome after a normal concep- Cri-du-chat (“cat cry”) syndrome is an
tion (e.g., some cells lose an X chromosome in example of a visible chromosomal deletion in
mosaic Turner syndrome). Mosaicism is rare which a portion of the short arm of chromo-
and present in only 5%–10% of all children some 5 is lost. Cri-du-chat syndrome affects
with chromosomal abnormalities. approximately 1 in 50,000 children, causing
microcephaly and an unusual facial appearance
Translocations with a round face, widely spaced eyes, epican-
A relatively common dysfunction in cell divi- thal folds, and low-set ears. Individuals with
sion, translocation can occur during mitosis the syndrome have a high-pitched cry and intel-
and meiosis when the chromosomes break and lectual disability (Cerruti Mainardi, 2006).
then exchange parts with other chromosomes. Examples of microdeletion syndromes
Translocation involves the transfer of a portion include Williams syndrome and VCFS
of one chromosome to a completely different (Gothelf, Schaer, & Eliez, 2008; Mervis &
chromosome. For example, a portion of chro- John, 2010). The former is due to a deletion in
mosome 21 might attach itself to chromosome the long arm of chromosome 7, and the latter
14 (Figure 1.5). If this occurs during meiosis, is due to a deletion in the long arm of chro-
one daughter cell will then have 23 chromo- mosome 22. Children with Williams syndrome
somes but will have both a chromosome 21 and a have intellectual disability with a distinctive
chromosome 14/21 translocation. Fertilization facial appearance, cardiac defects, and a unique
of this egg, by a sperm with a cell containing the cognitive profile with apparent expressive lan-
normal complement of 23 chromosomes, will guage skills beyond what would be expected
result in a child with 46 chromosomes. This based on their cognitive abilities. Children
includes two copies of chromosome 21, one with VCFS syndrome may have a cleft palate,
chromosome 14/21, and one chromosome 14. a congenital heart defect, a characteristic facial
This child will have Down syndrome because of appearance, and/or a nonverbal learning dis-
the functional trisomy 21 caused by the trans- ability. Cognitive problems are present in the
location. majority of individuals with VCFS, and many
Figure 1.5. Translocation. During prophase of meiosis in a parent, there may be a transfer of a portion of one chromosome to
another. In this figure, the long arm of chromosome 21 is translocated to chromosome 14, and the residual fragments are lost.
affected children satisfy the criteria for the 26,000 genes. Before the project started it was
diagnosis of autism. projected that humans would have more than
Microdeletion syndromes are also called 100,000 genes. How is it possible that human
contiguous gene syndromes because they beings have fewer than 25,000 genes, given that
involve the deletion of a number of adjacent genes are responsible for producing specific
genes. A number of microdeletion syndromes protein products (e.g., hormones, enzymes,
can be diagnosed using fluorescent in situ blood-type proteins) as well as regulating the
hybridization (FISH) technology. These development and function of the body? It was
include Miller-Dieker syndrome, Williams previously thought that each gene regulated the
syndrome, VCFS, and Smith-Magenis syn- production of a single protein. Now it is known
drome. FISH employs a fluorescently labeled that the situation is much more complicated
compound that binds with and identifies a spe- than this; single genes in humans code for mul-
cific gene sequence on the chromosome. FISH tiple proteins, giving humans the combinational
and karyotype analysis are now being largely diversity that lower organisms lack. Humans
replaced by targeted genomic microarray anal- can produce approximately 100,000 proteins
ysis (Li & Andersson, 2009). These diagnostic from one quarter of that many genes. However,
tools are discussed later in the chapter. it must be acknowledged that the chimp shares
99% of the human genome. Having now exam-
Frequency of ined the genome of innumerable organisms, the
Chromosomal Abnormalities minimum number of genes necessary for life
appears to be approximately 300, and all living
In total, approximately 25% of eggs and 3%–4%
organisms share these same 300 genes.
of sperm have an extra or missing chromosome,
The mechanism by which genes act as
and an additional 1% and 5%, respectively,
blueprints for producing specific proteins
have a structural chromosomal abnormality
needed for body functions is as follows. Genes
(Hassold, Hall, & Hunt, 2007). As a result,
are composed of various lengths of DNA that,
10%–15% of all conceptions have a chro-
together with intervening DNA sequences,
mosomal abnormality. Somewhat more than
form chromosomes. DNA is formed as a
50% of these abnormalities are trisomies, 20%
double helix, a structure that resembles a
are monosomies, and 15% are triploidies
twisted ladder (Figure 1.6). The sides of the
(69 chromosomes). The remaining chromo-
ladder are composed of sugar and phosphate
somal abnormalities are composed of structural
molecules, whereas the “rungs” are made up
abnormalities and tetraploidies (92 chromo-
of four chemicals called nucleotide bases:
somes). It may therefore seem surprising that
cytosine (C), guanine (G), adenine (A), and
more children are not born with chromosomal
thymine (T). Pairs of nucleotide bases inter-
abnormalities. The explanation is that more
lock to form each rung: cytosine bonds with
than 95% of fetuses with chromosomal abnor-
guanine, and adenine bonds with thymine.
malities do not survive to term. In fact, many
The sequence of nucleotide bases on a segment
are lost very early in gestation, before a preg-
of DNA (spelled out by the 4–letter alphabet
nancy may be recognized.
C, G, A, T) make up an individual’s genetic
code. Genes range in size, containing from
GENES AND THEIR DISORDERS 1,500 to more than 2 million nucleotide-base
pairs. Overall there are approximately 3.3 bil-
The underlying problem with the previ- lion base pairs in the human genome, but less
ously mentioned chromosomal disorders is than 3% encode genes that serve as a blueprint
the presence of too many or too few genes, for protein production. It should also be noted
resulting from extra or missing chromosomal that all genes are not “turned on” or expressed
material. Genetic disorders can also result at all times. Some are only active during fetal
from an abnormality in a single gene. The life (e.g., the fetal hemoglobin gene), and it
Human Genome Project, a public–private is hoped that some never are expressed (e.g.,
partnership developed to unravel the genetic oncogenes, which have the potential to cause
makeup of mankind, established that the cancer). The turning on and off of genes may
human genome contains 20,000–25,000 genes follow a carefully developmentally regulated
(http://www.ncbi.nlm.nih.gov/genome/guide/ process. Regulation of gene expression plays a
human). This is quite remarkable given that the particularly important role during fetal devel-
fruit fly has approximately 13,000 genes, the opment; as a result, problems involving gene
round worm 19,000 genes, and a simple plant expression during fetal development can be
Figure 1.6. Deoxyribonucleic acid (DNA). Four nucleotides (C, cytosine; G, guanine; A, adenosine; T, thymine) form the genetic
code. On the mRNA molecule, uracil (U) substitutes for thymine. The DNA unzips to transcribe its message as mRNA.
particularly devastating. The way gene expres- same as in DNA except that uracil (U) substi-
sion is regulated involves a number of structural tutes for thymine (T). As might be expected,
changes to the DNA and its architecture with- errors or mutations may occur during tran-
out altering the actual nucleotide sequence of scription; however, a proofreading enzyme
the DNA. This process is termed epigenetics and generally catches and repairs these errors. If
is a cause of a number of genetic syndromes that not corrected, transcription errors can lead to
are associated with developmental disabilities. the production of a disordered protein and a
disease state.
Transcription
The production of a specific protein begins Translation
when the DNA comprising that gene unwinds, Once transcribed, the single-stranded mRNA
and the two strands (the sides of the ladder) detaches, and the double-stranded DNA zips
unzip to expose the code (Jorde, Carey, & back together. The mRNA then moves out of
Bamshad, 2009). The exposed DNA sequence the nucleus into the cytoplasm, where it pro-
then serves as a template for the formation, or vides instructions for the production of a pro-
transcription, of a similar nucleotide sequence tein, a process termed translation (Figure 1.8).
called messenger ribonucleic acid (mRNA; Once the mRNA is in the cytoplasm, the pro-
Figure 1.7). In all RNA, the nucleotides are the cess of translation begins. The mRNA attaches
itself to a ribosome. The ribosome moves
along the mRNA strand, reading the message in
three-letter “words,” or codons, such as GCU,
CUA, and UAG. Most of these triplets code
for specific amino acids, the building blocks
of proteins. As these triplets are read, another
type of RNA, transfer RNA (tRNA), carries the
requisite amino acids to the ribosome, where
they are linked to form a protein. Certain trip-
lets, termed stop codons, instruct the ribosome to
terminate the sequence by indicating that all of
the correct amino acids are in place to form the
complete protein.
Once the protein is complete, the mRNA,
ribosome, and protein separate. The protein is
released into the cytoplasm and is either used
by the cytoplasm or prepared for secretion into
the bloodstream. If the protein is to be secreted,
it is transferred to the Golgi apparatus (Fig-
Figure 1.7. A summary of the steps leading from gene ure 1.1), which packages it in a form that can be
to protein formation. Transcription of the DNA (gene) onto
mRNA occurs in the cell nucleus. The mRNA is then trans- released through the cell membrane and carried
ported to the cytoplasm, where translation into protein occurs. throughout the body.
Figure 1.8. Translation of mRNA into protein. The ribosome moves along the mRNA strand assembling a growing polypeptide
chain using tRNA–amino acid complexes. In this example, it has already assembled six amino acids (phenyalanine [Phe], arginine
[Arg], histidine [His], cystine [Cys], threonine [Thr], and glycine [Gly]) into a polypeptide chain that will become a protein.
Mutations disrupting the subsequent steps, that mistake

An abnormality at any step in this transla- is termed a mutation. The likelihood of muta-
tion process can cause the body to produce: tions occurring increases with the size of the
1) a structurally abnormal protein, 2) reduced gene. In sperm cells, the point mutation rate
amounts of a protein, or 3) no protein at all. also increases with paternal age. Although most
When the error occurs in the gene itself, thus mutations occur spontaneously, they can be
induced by radiation, toxins, and viruses. Once the body and in the brain. Children with NF1
they occur, mutations become part of a person’s also have a high incidence of attention-deficit/
genetic code. If they are present in the germ- hyperactivity disorder (Ferner, 2010).
line, they can be passed on from one generation
to the next. Insertions and Deletions
Mutations can also involve the insertion or
Point Mutations deletion of one or more nucleotide bases.
The most common type of mutation is a single The most common mutation in individuals
base pair substitution (Jorde, Carey, & Bam- with spinal muscular atrophy (associated with
shad, 2009), also called a point mutation. severe muscle loss and weakness throughout
Because there is redundancy in human DNA, the body) involves an insertion in the survival
many point mutations have no adverse conse- motor neuron gene, rendering it defective (Far-
quences. Depending on where in the gene they rar, Johnston, Grattan-Smith, & Turner, 2009).
occur, point mutations are capable of causing In contrast, a common mutation in another
a missense mutation or a nonsense muta- inherited muscle disease, Duchenne muscular
tion (Figure 1.9). A missense mutation results dystrophy, usually involves a deletion in the
in a change in the triplet code that substitutes dystrophin gene (see Chapter 13).
a different amino acid in the protein chain. Base additions or subtractions may also
For example, in most cases of the inborn error lead to a frame shift in which the three base pair
of metabolism, phenylketonuria (PKU), a reading frame is shifted. All subsequent triplets
single base substitution causes an error in the are misread, often leading to the production of
production of phenylalanine hydroxylase, the a stop codon and a nonfunctional protein. Cer-
enzyme necessary to metabolize the amino acid tain children with Tay-Sachs disease (see later
phenylalanine. The result is an accumulation of in the chapter; Appendix B) have this type of
phenylalanine in blood and brain that can cause mutation. Other mutations can affect regions
brain damage (see Chapter 19). In a nonsense of the gene that regulate transcription but that
mutation, the single base pair substitution pro- do not actually code for an amino acid. These
duces a stop codon that prematurely terminates areas are called promoter and enhancer areas.
the protein formation. In this case, no useful They help turn other genes on and off and are
protein is formed. Neurofibromatosis-1 (NF1) very important in the normal development of
is an example of a disorder commonly caused by the fetus. A mutation in a transcription gene
a nonsense mutation. In NF1 a tumor suppres- leads to Rubinstein-Taybi syndrome, which
sor, neurofibromin, is not formed. As a result, is associated with multiple congenital mal-
multiple benign neurofibroma tumors form on formations and severe intellectual disability
Figure 1.9. Examples of point mutations: Missense mutation, nonsense mutation, and frame shift mutation. The shaded areas
mark the point of mutation.
(Roelfsema & Peters, 2007). Mutations in a liver. There also are SNPs that place people at
transcription gene also may result in a normal greater risk for developing Alzheimer’s disease
protein being formed but at a much slower rate and Crohn’s disease (an inflammatory bowel
than usual, leading to an enzyme or other pro- disease; Amre et al., 2010; Seshadri et al., 2010).
tein deficiency. It is likely that at some time in the not too dis-
tant future, doctors will take blood samples to
Selective Advantage test for various SNPs associated with health and
The incidence of a genetic disease in a popu- disease in order to practice individualized (per-
lation depends on the difference between the sonalized) medicine (McCabe, 2010).
rate of mutation production and that of muta-
tion removal. Typically, genetic diseases enter Single Gene (Mendelian) Disorders
populations through mutation errors. Natu- Gregor Mendel (1822–1884), an Austrian
ral selection, the process by which individuals monk, pioneered our understanding of single-
with a selective advantage survive and pass on gene defects. While cultivating pea plants, he
their genes, works to remove these errors. For noted that when he bred two differently colored
instance, because individuals with sickle cell dis- plants—yellow and green—the hybrid offspring
ease (an autosomal recessive inherited blood all were green, rather than mixed in color. Men-
disorder) historically have had a decreased life del concluded that the green trait was domi-
span, the gene that causes this disorder would nant, whereas the yellow trait was recessive
have been expected to be removed from the (from the Latin word for “hidden”). However,
gene pool over time. Sometimes natural selec- the yellow trait sometimes appeared in subse-
tion, however, favors the individual who is a quent generations. Later, scientists determined
carrier of one copy of a mutated recessive gene. that many human traits, including some birth
In the case of sickle cell disease, unaffected car- defects, are also inherited in this fashion. They
riers (called heterozygotes), who appear clini- are referred to as Mendelian traits.
cally healthy, actually have minor differences in Table 1.1 indicates the prevalence of some
their hemoglobin structure that make it more common genetic disorders associated with
resistant to a malarial parasite (López, Sara- developmental disabilities. Approximately 1%
via, Gomez, Hoebeke, & Patarroyo, 2010). In of the population has a known single-gene dis-
Africa, where malaria is endemic, carriers of order. These disorders can be transmitted to
this disorder have a selective advantage. This offspring on the autosomes or on the X chro-
selection has maintained the sickle cell trait mosome. Mendelian traits may be either domi-
among Africans. Northern Europeans, for nant or recessive. Thus, Mendelian disorders
whom malaria is not an issue, rarely carry the are characterized as being autosomal reces-
sickle cell gene at all; this mutation has presum- sive, autosomal dominant, or X-linked.
ably died out via natural selection (Jorde, Carey,
& Bamshad, 2009). Autosomal Recessive Disorders
Among the currently recognized Mendelian
Single Nucleotide disorders, approximately 1,000 are inherited as
Polymorphisms (SNPs) autosomal recessive traits (McKusick-Nathans
Of the more than 3 billion base pair genetic Institute of Genetic Medicine & National Cen-
code, people of all races and geography share ter for Biotechnology Information, 2010). For a
99.9% genetic identity (Ridley, 2006). Although child to have a disorder that is autosomal reces-
this is quite remarkable, that 0.1% difference sive, he or she must carry an abnormal gene on
means there are about 3 million DNA sequence both copies of the relevant chromosome. In the
variations, also called single nucleotide poly- vast majority of cases, this means that the child
morphisms (SNPs). This genetic variation is receives an abnormal copy from both parents.
the basis of evolution, but it can also contribute The one exception is uniparental dysomy (see
to health, unique traits, or disease. One SNP the following section).
involved in muscle formation, if present, makes Tay-Sachs disease is an example of an auto-
individuals much more likely to become “buff” somal recessive, progressive neurological disor-
if they weight lift; another SNP is associated der. It is caused by the absence of an enzyme,
with perfect musical pitch. There is a SNP that hexosaminidase A, which normally metabo-
makes individuals more susceptible to adverse lizes a potentially toxic product of nerve cells
effects from certain medications, because it (Kaback, 2006). In individuals with Tay-Sachs
leads to slower metabolism of drugs by the disease, this product cannot be broken down
Table 1.1. Prevalence of genetic disorders

Disease Appropriate prevalence
Chromosomal disorders
Down syndrome 1/700–1/1,000
Klinefelter syndrome 1/1,000 males
Trisomy 13 1/10,000
Trisomy 18 1/6,000
Turner syndrome 1/2,500–1/10,000 females
Single-gene disorders
Duchenne muscular dystrophy 1/3,500 males
Fragile X syndrome 1/4,000 males; 1/8,000 females
Neurofibromatosis Type I 1/3,000–1/5,000
Phenylketonuria 1/10,000 to 1/15,000
Tay-Sachs disease 1/3,000 Ashkenazi Jews
Mitochondrial inheritance
Leber hereditary optic
neuropathy Rare
MELAS and MERRF Rare
Mitochondrial encephalopathy Rare
Source: Jorde, Carey, and Bamshad (2001).
Key: MELAS, mitochondrial encephalomyelopathy, lactic acidosis, and
stroke-like episodes; MERRF, myoclonic epilepsy and ragged red fibers.
and is stored in the brain, leading to progressive would carry a 1 in 4 chance of the child being
brain damage and early death. a noncarrier (AA), a 1 in 2 chance of the child
Alternate forms of the gene for hexosamin- being a carrier (aA or Aa), and a 1 in 4 risk of
idase A are known to exist. The different forms the child having Tay-Sachs disease (aa). If a car-
of a gene, called alleles, include the normal rier has children with a noncarrier (aA × AA),
gene, which can be symbolized by a capital “A” each pregnancy carries a 1 in 2 chance of the
because it is dominant, and the mutated allele child being a carrier (aA, Aa), a 1 in 2 chance
(in this example, carrying Tay-Sachs disease), of the child being a noncarrier (AA), and virtu-
which can be symbolized by the lowercase “a” ally no chance of the child having the disease
because it is recessive (Figure 1.10). Upon fer- (Figure 1.10). Siblings of affected children,
tilization, the embryo receives two genes for even if they are carriers, are unlikely to produce
hexosaminidase A, one from the father and one children with the disease because this can only
from the mother. The following combinations occur if they have children with another carrier,
of alleles are possible: homozygous (carrying which is an unlikely occurrence in these rare
the same allele) combinations, AA or aa; and diseases, except in cases of intermarriage.
heterozygous (carrying alternate alleles) com- The 1 in 4 risk when two carriers have chil-
binations, aA or Aa. Because Tay-Sachs disease dren is a probability risk. This does not mean
is a recessive disorder, two abnormal recessive that if a family has one affected child, the next
genes (aa) are needed to produce a child who three will be unaffected. Each new pregnancy
has the disease. Therefore, a child with aa carries the same 1 in 4 risk; the parents could,
would be homozygous for the Tay-Sachs gene by chance, have three affected children in a
(i.e., have two copies of the mutated gene and row or five unaffected children. In the case of
manifest the disease), a child with aA or Aa Tay-Sachs disease, carrier screening is used to
would be heterozygous and a healthy carrier of identify at-risk couples and prenatal diagnosis
the Tay-Sachs gene, and a child with AA would to provide information about whether the fetus
be a healthy noncarrier. is affected (see Chapter 5).
If two heterozygotes (carrying alternate Because it is unlikely for a carrier of a rare
alleles) were to have children (aA × Aa or condition to have children with another car-
Aa × aA), the following combinations could rier of the same disease, autosomal recessive
occur: AA, aA or Aa, or aa (Figure 1.10). Accord- disorders are quite rare in the general popula-
ing to the law of probability, each pregnancy tion, ranging from 1 in 2,000 to 1 in 200,000
births (McKusick-Nathans Institute of Genetic Chapter 19). Autosomal recessive disorders

Medicine & National Center for Biotechnol- affect males and females equally, and there
ogy Information, 2010). When intermarriage tends to be clustering in families within sibships
occurs within an extended family (e.g., cousin (i.e., more than one affected child per fam-
marriage; Figure 1.11) or when marriages ily). However, a history of the disease in past
among ethnically, religiously, or geographically generations rarely exists unless there has been
isolated populations occur (founder effect), the intermarriage.
incidence of these disorders increases markedly.
Like Tay-Sachs disease, certain other Autosomal Dominant Disorders
autosomal recessive disorders are caused by Approximately 950 autosomal dominant disor-
mutations that lead to an enzyme deficiency ders have been identified, the most common ones
of some kind. In most cases, there are a num- having a frequency of 1 in 500 births (McKusick-
ber of different mutations within the gene that Nathans Institute of Genetic Medicine &
can produce the same disease. Because these National Center for Biotechnology Informa-
enzyme deficiencies generally lead to bio- tion, 2010). Autosomal dominant disorders
chemical abnormalities involving either the are quite different from autosomal recessive
insufficient production of a needed product or disorders in mechanism, incidence, and clini-
the buildup of toxic materials, developmental cal characteristics (Table 1.2). Because autoso-
disabilities or early death may result (see mal dominant disorders are caused by a single
Figure 1.10. Inheritance of autosomal recessive disorders. Two copies of the abnormal gene (aa) must be present to produce
the disease state: A) Two carriers mating will result, on average, in 25% of the children being affected, 50% being carriers, and
25% not being affected; B) A carrier and a noncarrier mating will result in 50% noncarriers and 50% carriers, no children will
be affected.
individuals with a new mutation will risk pass-

ing the mutated gene to their offspring, their
parents are unaffected and at no greater risk
than the general population of having a second
affected child. There can also be partial pene-
trance of the gene, which produces a less severe
disorder (e.g., in NF1 or tuberous sclerosis), or
delayed onset form of the disease (e.g., in Hun-
tington disease).
X-Linked Disorders
Unlike autosomal recessive and autosomal dom-
inant disorders, which involve genes located on
the 22 nonsex chromosomes, X-linked (pre-
viously called sex-linked) disorders involve
mutant genes located on the X chromosome.
X-linked disorders primarily affect males (Ste-
Figure 1.11. A family tree illustrating the effect of consan- venson & Schwartz, 2009). The reason for this is
guinity (in this case, a marriage between first cousins) on the that males have only one X chromosome; there-
risk of inheriting an autosomal recessive disorder. The chance
of both parents being carriers is usually less than 1 in 300.
fore, a single dose of the abnormal gene causes
When first cousins conceive a child, however, the chance of disease. Because females have two X chromo-
both parents being carriers rises to 1 in 8. The risk, then, of somes, a single recessive allele usually does not
having an affected child increases almost fortyfold.
cause disease, provided there is a normal allele
on the second X chromosome. Approximately
abnormal allele, individuals with the genotypes 1,100 X-linked disorders have been described,
Aa or aA are both affected to some degree. including Duchenne muscular dystrophy and
To better understand this, consider NF1, hemophilia (McKusick-Nathans Institute of
the neurological disorder discussed previously. Genetic Medicine & National Center for Bio-
Suppose a represents the normal recessive gene technology Information, 2010; Figure 1.13).
and A indicates the mutated dominant gene Carrier mothers in two thirds of the cases pass
for NF1. If a person with NF1 (aA or Aa) has on these disorders from one generation to the
a child with an unaffected individual (aa) there next; one third of these cases represent new
is a 1 in 2 risk, statistically speaking, that the mutations. It is becoming increasingly recog-
child will have the disorder (aA or Aa), and a nized that the distinction between X-linked
1 in 2 chance he or she will be unaffected (aa; recessive and X-linked dominant is often cloudy
Figure 1.12). An unaffected child will not carry and may not be clinically useful.
the abnormal allele and, therefore, cannot pass As an example, children with Duchenne
it on to his or her children. muscular dystrophy develop a progressive
Autosomal dominant disorders affect men muscle weakness (Bushby et al., 2010a, 2010b).
and women with equal frequency. They tend The disease results from a mutation in the dys-
to involve structural (physical) abnormalities trophin gene (located on the X chromosome),
rather than enzymatic defects. In affected indi- the function of which is to ensure stability of
viduals, there is often a family history of the the muscle cell membrane. Because the disease
disease; however, approximately half of affected affects all muscles, eventually the heart mus-
individuals represent a new mutation. Although cle and the diaphragmatic muscles needed for
Table 1.2. Comparison of autosomal recessive, autosomal dominant, and X-linked inheritance patterns
Autosomal recessive Autosomal dominant X-linked
Type of disorder Enzyme deficiency Structural abnormalities Mixed
Examples of disorder Tay-Sachs disease Achondroplasia Fragile X syndrome
Phenylketonuria (PKU) Neurofibromatosis Muscular dystrophy
Carrier expresses disorder No Yes Sometimes
Increased risk in other family Yes No No
members from intermarriage
circulation and breathing are impaired. Dystro- despite the X chromosome containing only 4%
phin is also required for typical brain develop- of the genome (i.e., all the genes contained in
ment and function; so affected boys may have the 46 chromosomes).
cognitive impairments. The mechanism for passing an X-linked
In fact, approximately 10% of males with recessive trait to the next generation is as fol-
intellectual disability and l0% of females with lows: Women who have a recessive mutation
learning disabilities are affected by X-linked (Xa) on one of their X chromosomes and a nor-
conditions (Inlow & Restifo, 2004). The finding mal allele on the other (X) are carriers of the
that males are more than twice as likely to have gene (XaX). Although these women are usu-
intellectual disability than females is attribut- ally clinically unaffected, they can pass on the
able to a combination of factors: first, X-linked abnormal gene to their children. Assuming the
disorders affect males disproportionately more father is unaffected, each female child born to
than females; second, there is an unusually large a carrier mother has a 1 in 2 chance of being
number of genes residing on the X chromosome a carrier (i.e., inheriting the mutant Xa allele
that are critical for normal brain development, from her mother and the normal X allele from
nerve cell function, learning, and memory. Up her father; Figure 1.13). A male child (who
to 10% of all known genetic errors causing has only one X chromosome), however, has a
intellectual disability are on the X chromosome, 1 in 2 risk of having the disorder. This occurs
Figure 1.12. Inheritance of autosomal dominant disorders. Only one copy of the abnormal gene (A) must be present to pro-
duce the disease state: A) If an affected person conceives a child with an unaffected person, statistically speaking, 50% of the
children will be affected and 50% will be unaffected; B) If two affected people have children, 25% of the children will be unaf-
fected, 50% will have the disorder, and 25% will have a severe, often fatal, form of the disorder as a result of a double dose of
the abnormal gene.
if he inherits the X chromosome containing chromosome derived from the father, whereas
the mutated gene (XaY) instead of the normal others would contain an active X chromosome
one (XY). A family tree frequently reveals that derived from the mother. This lyonization
some maternal uncles and male siblings have hypothesis was later proven to be correct. In
the disease. most instances, the cells in a woman’s body have
Occasionally, females are affected by a fairly equal division between maternally and
X-linked diseases. This can occur if the woman paternally derived active X chromosomes. In a
has adverse lyonization (inactivation of one small fraction of women, however, the distribu-
of the X chromosomes) or if the disorder is tion is very unequal. If the normal X chromo-
X-linked dominant. Regarding the former some is inactivated preferentially in cells of a
mechanism, geneticist Mary Lyon questioned carrier of an X-linked disorder, the woman will
why women have the same amount of X-chro- manifest the disease, although usually in a less
mosome directed gene product as men instead severe form than the male. An example is orni-
of twice as much, as would be predicted from thine transcarbamylase (OTC) deficiency, the
their genetic makeup. Dr. Lyon postulated disorder Katy had in this chapter’s opening case
that early in embryogenesis, one of the two X study (see also Chapter 19).
chromosomes in each cell was inactivated, mak- The second mechanism for a female to
ing every female fetus a mosaic. This implied manifest an X-linked disorder is if the dis-
that some cells would contain an active X order is transmitted as X-linked dominant.
Figure 1.13. Inheritance of X-linked disorders: A) A carrier woman has a child with an unaffected man. Among the female chil-
dren, statistically speaking, 50% will be carriers and 50% will be unaffected. Among the male children, 50% will be affected and
50% will be unaffected; B) A carrier woman has a child with an affected man. Of the female children, 50% will be carriers and 50%
will be affected. Of the male children, statistically speaking, 50% will be unaffected and 50% will be affected.
Although most X-linked disorders are reces-

sive, a few appear to be dominant. One example
is Rett syndrome (Chahrour & Zoghbi, 2007;
Matijevic, Knezevic, Slavica, & Pavelic, 2009;
Percy, 2008). It appears that in this disorder,
the presence of the mutated transcription gene,
MECP2, on the X chromosome of a male
embryo nearly always leads to lethality. When
it occurs in one of the X chromosomes of the
female, however, it is compatible with survival
but results in a syndrome marked by micro-
cephaly, intellectual disability, and autism-
like behaviors.
Mitochondrial Inheritance
Each cell contains several hundred mitochon-
dria in its cytoplasm (Figure 1.1). Mitochondria
produce the energy needed for cellular func-
tion through a complex process termed oxida-
tive phosphorylation. It has been proposed
that mitochondria were originally independent Figure 1.14. Mitochondrial DNA genome. The genes code
microorganisms that invaded our bodies during for various enzyme complexes involved in energy production
the process of human evolution and then devel- in the cell. The displacement loop (D loop) is not involved
in energy production. (This figure was published in Medical
oped a symbiotic relationship with the cells in genetics, revised 2nd edition, by Jorde, L.B., Carey, J.C., &
the human body. They are unique among cel- Bamshad, M.J., et al., p. 105, Copyright C.V. Mosby [2001];
lular organelles (the specialized parts of a cell) adapted by permission.) (Key: Complex I genes [NADH
dehydrogenase], Complex III genes [ubiquinol: cyto-
in that they possess their own DNA, which is in chrome c oxidoreductase], tRNA genes, Complex IV
a double stranded circular pattern rather than genes [cytochrome c oxidase], Complex V genes [ATP syn-
thase], ribosomal RNA genes.)
the double-helical pattern of nuclear DNA and
contains genes that are different from those con-
tained in nuclear DNA (Figure 1.14). Most of mix of different mitochondrial genomes within
the proteins necessary for mitochondrial func- a single individual. There may be significant
tion are coded by nuclear genes, and disorders variability amongst specific tissues in an indi-
caused by abnormalities in these genes are most vidual so that some organs or tissues may be
often inherited in an autosomal recessive man- affected by the mitochondrial disorder and oth-
ner. Certain mitochondrial functions, however, ers may not be.
are dependent on genes encoded on the mito- Because eggs, but not sperm, contain
chondrial DNA. A mutation in a mitochondrial cytoplasm, mitochondria are inherited from
gene can result in defective energy production one’s mother. As a result, mitochondrial DNA
and a disease state (Calvo & Mootha, 2010). disorders are passed on from generally unaf-
An example of a disorder with mitochondrial fected mothers to their children, both male and
inheritance is mitochondrial encephalomyelop- female. Men affected by a mitochondrial disor-
athy, lactic acidosis, and stroke-like episodes der cannot pass the trait to their children. In
(MELAS), a progressive neurological disorder some cases, a mother with significant hetero-
marked by episodes of stroke and dementia. plasmy may have only mild effects of a disease
Other disorders with mitochondrial inheritance but may pass on only mutated mitochondrial
can lead to blindness, deafness, or muscle weak- genomes to a child. In that case, a child would
ness. Sixty-five mitochondrial disorders have have a homoplasmic mitochondrial mutation
been described thus far (McKusick-Nathans and would have a much more severe clinical
Institute of Genetic Medicine & National Cen- course (Figure 1.15).
ter for Biotechnology Information, 2010). Every
cell contains many mitochondria, but not every Trinucleotide Repeat Expansion Disorders
mitochondrion may carry a given mutation. In There has been an increased recognition that
many disorders that are inherited through the copy number variability accounts for several
mitochondrial genome, there is great clinical developmental disabilities (Stranger, 2007).
variability based on the “heteroplasmy,” or the This discovery has been made possible by
within the fragile X mental retardation protein

gene (FMR1). Inheritance of the instability in
CGG regions leads to expansion from the nor-
mal number of repeats (6–40) to a premutation
state (50–200 repeats) or from a premutation
state to full mutation (>200 repeats). The stabil-
ity of the CGG repeat depends upon the length
of the repeat as well as the sex of the individual
passing on the mutation. The increased risk
of CGG expansion from one generation to
another is a phenomenon termed anticipation.
Anticipation leads to a worsening clinical phe-
Figure 1.15. Mitochondrial inheritance. Because mito- notype in successive generations. When a child
chondria are inherited exclusively from the mother, defects is suspected of having fragile X syndrome the
in mitochondrial disease will be passed on from the mother diagnosis can be confirmed by detecting the
to her children, as illustrated in this pedigree. (Key: Shad-
ing indicates affected individuals, squares are males, circles number of trinucleotide repeats in FMR1 using
are females.) a clinically available molecular genetic blood
test (Collins et al., 2010). There is a correlation
advances in molecular cytogenetics, specifically between the number of trinucleotide repeats
microarray based technologies that allow for and the severity of disease.
high-resolution, simultaneous screening of the
entire human genome (Li & Andersson, 2009;
Stankiewicz & Beaudet, 2007). EPIGENETICS
One particular type of copy number varia-
tion is the trinucleotide repeat expansion (trip- The diagnostic evaluation of children with
let repeat disorder), which has been linked to a intellectual disability and other developmental
number of disorders that do not follow typical disabilities has become increasingly complex in
Mendelian inheritance. Trinucleotide repeat recent years owing to a number of newly rec-
disorders result from problems in recombina- ognized genetic mechanisms and sophisticated
tion and replication during meiosis. Certain methods to diagnosis them. It has been appreci-
genes have highly repetitive sequences of tri- ated that changes in gene expression can occur
nucleotides. These repetitive sequences may by mechanisms that do not permanently alter
expand (or contract) in size during meiosis. the DNA sequence (Urdinguio, Sanchez-Mut,
Once the repetitive sequence reaches a certain & Esteller, 2009), a phenomenon termed epi-
size threshold, it may interfere with the func- genetics. Epigenetic mechanisms are impor-
tion of the gene and lead to a clinically apparent tant regulators of biological processes because
disorder. The expansion length is linked to the they include genome reprogramming during
phenotype, with the longer expansions often embryogenesis (Gropman & Batshaw, 2010;
presenting with earlier and more severe clinical Gräff & Mansuy, 2009; Kumar, 2008). Epigen-
signs and symptoms. etic modification, which is important in devel-
The first triplet repeat disorder discovered opmental processes, may have long-term effects
was fragile X syndrome. Fragile X syndrome on learning and memory formation. Epigenetic
is the most common inherited cause of intel- abnormalities may result from dysfunction of
lectual disability. Boys and girls with fragile certain enzymes, genomic imprinting, and trip-
X syndrome have a phenotype that includes a let repeat copy number variation. A number of
characteristic physical appearance, cognitive conditions causing developmental disabilities,
skills deficits, and impaired adaptive behaviors including fragile X syndrome, Rett syndrome,
(Chonchaiya, Schneider, & Hagerman, 2009; Rubinstein-Taybi syndrome, Prader-Willi syn-
Schneider, Hagerman, & Hessl, 2009). Many drome, and VCFS, can be attributed to disrup-
affected children satisfy the criteria for the tions in epigenetic function. It is interesting to
diagnosis of autism. The prevalence of fragile X note that virtually all epigenetic disorders have
syndrome (the full mutation) for males is about been found to have a high incidence of symp-
1:3,600. The prevalence of the full mutation toms consistent with autism spectrum disorders
in females is estimated to be at least 1:4,000 (Moss & Howlin, 2009). In addition, the risk
to 1:6,000. Fragile X syndrome arises from an of epigenetic disorders has been found to be
expansion of the number of cytosine-guanine- increased in pregnancies assisted by in vitro fer-
guanine (CGG) trinucleotide repeats occurring tilization (IVF; Owen & Segars, 2009).
Rubinstein-Taybi syndrome is an example 2008). Other examples of imprinted neuroge-

of epigenetic dysfunction caused by the dysfunc- netic disorders include Angelman syndrome
tion of a histone acetyltransferase, an enzyme and Beckwith-Wiedemann syndrome (Dan,
that regulates gene expression (Roelfsema & 2009; Gurrieri & Accadia, 2009).
Peters, 2007). An autosomal dominant disorder,
Rubinstein-Taybi syndrome is characterized by
Genetic Testing
intellectual disability and physical anomalies,
including broad thumbs, growth deficiency that Over the past few decades, the availability of
is later followed by excessive weight gain, char- tests for specific genetic disorders has increased
acteristic facial appearance, and an increased exponentially. The term genetic testing is broad
risk for developing tumors. This syndrome is and may encompass many different kinds of
caused by mutations in the cAMP response tests and technologies.
element-binding (CREB) protein gene. As a Perhaps the most well-known genetic
coactivator of transcription, CREB has dual test is a karyotype. A karyotype is essentially a
functions in mediating both gene activation and photograph of all of the chromosomes from a
epigenetic modification. single cell, arranged in numbered pairs so the
According to Mendelian genetics, the phe- banding pattern is visible. This is an ideal test
notype, or appearance, of an individual should for aneuploidies (irregularities in the number
be the same whether the given gene is inher- of chromosomes, such as Down syndrome) or
ited from the mother or the father. This is not for translocations (see preceding discussion).
always the case, however, because of genomic Some relatively large deletions and duplica-
imprinting. This is an epigenetic phenomenon tions also may be visible on karyotype. Smaller
in which the activity of the gene is modified deletions and duplications may be detected by
depending upon the sex of the transmitting par- FISH. With FISH, the presence or absence of
ent (Butler, 2009). Most autosomal genes are specific chromosome regions is assessed. DNA
expressed in both maternal and paternal alleles. probes specific to the target region are given a
However, imprinted genes show expression fluorescent signal tag and are attached to the
from only one allele (the other is silenced or used patient’s DNA. The presence or absence of the
differently), and this is determined during pro- fluorescent signal then indicates the presence
duction of the egg or sperm. Imprinting implies or absence of the corresponding region in the
that the gene carries a “tag” placed on it dur- patient’s sample.
ing spermatogenesis or oogenesis. This is most In many ways, karyotype and FISH
often accomplished by adding methyl groups to techniques have been largely supplanted by
the DNA, affecting the expression of the meth- chromosome microarray analysis, also called
ylated genes. Imprinted genes are important in comparative genomic hybridization (CGH)
development and differentiation, and if expres- (Koleen et al., 2009). Much like a karyotype
sion from both alleles is not maintained, distur- or FISH, CGH requires about a teaspoon of
bances in development can result (Wilkins & blood. A comparison is performed between the
Ubeda, 2011). The first human imprinting dis- patient’s blood and a reference sample; differ-
order discovered was Prader-Willi syndrome. It ences in the DNA of the two samples allows
is caused by a paternal deletion in chromosome detection of chromosomal imbalances. Both
15 or by maternal uniparental disomy in which the patient DNA sample and the control DNA
both chromosome 15s come from the mother. sample are labeled with fluorescent dyes, and
It can also result if both copies of chromo- differences in the relative fluorescence inten-
some 15 are imprinted as if they came from the sities on the microarray are indicative of the
mother, regardless of the actual parent of origin differences in copy number between the two
(Conlin et al., 2010). Prader-Willi syndrome is genomes (Sebat et al., 2007). Newer-generation
characterized by severe hypotonia and feeding arrays also involve the use of single-nucleotide
difficulties in early childhood, followed by an polymorphisms (SNPs) to detect very small
insatiable appetite and obesity by school age. It copy number variations in DNA sequences
features significant motor and language delays (Friedman et al., 2006).
in the first 2 years of life, borderline to moder- One of the limitations of chromosomal
ate intellectual disability, and severe behavioral microarray technology is that it is not able to
problems, including compulsive and hording detect balanced rearrangements of chromo-
behaviors. Many affected children satisfy the somal material. Additionally, chromosomal
criteria for the diagnosis of autism (Goldstone, microarrays do not detect point mutations (sin-
Holland, Hauffa, Hokken-Koelega, & Tauber, gle nucleotide changes) and therefore would
not be an appropriate test to screen for diseases during childhood, Asian Americans who grow
such as Rett syndrome (which is caused by a up in the United States are significantly taller
point mutation in MECP2 gene). than their parents who grew up in Asia. Dia-
To assess for point mutations or very small betes, meningomyelocele, cleft palate, and
deletions or duplications within a specific gene, pyloric stenosis are examples of disorders that
DNA sequencing is typically used. There are a have both genetic and environmental influences
number of different technologies available for (Au, Ashley-Koch, & Northrup, 2010). Tak-
this, but they all essentially deliver the patient’s ing the example of PKU, an affected child will
sequence for a given gene that can then be com- develop intellectual disability if the PKU is
pared with a reference sequence. This can be not treated early but will have typical develop-
very useful when, based on clinical evaluation, ment if it is treated with a diet low in phenyl-
a genetic disorder relatable to a known gene alanine from infancy (Feillet et al., 2010; see
is suspected. Chapter 19).
There are many other types of genetic
tests available for specific disorders. For exam-
ple, some inborn errors of metabolism may be
SUMMARY
identified by detecting specific metabolites in Each human cell contains a full complement
blood, urine, or other types of samples. Test- of genetic information encoded in genes con-
ing for methylation patterns on DNA samples tained in 46 chromosomes. Not only does this
may detect certain epigenetic disorders. Other genetic code determine our physical appearance
genetic disorders may be detected radiologi- and biological makeup, it is also the legacy we
cally. The decision about which tests are most pass on to our children. The unequal division of
appropriate for a specific patient is complex, the reproductive cells, the deletion of a part of
and physicians with expertise in medical genet- a chromosome, the mutation in a single gene,
ics may help guide testing and interpret results. or the modification of gene expression can each
Over the coming years, technological advances have significant consequences. Yet, despite
will allow for much more comprehensive and these and other potential problems that can
in-depth genetic analysis. Sequence analysis occur during the development of the embryo
of an entire human genome was completely and fetus, approximately 97% of infants are
unfathomable just a few years ago, but may born without birth defects.
become clinically available in the near future. It
is very challenging for clinicians to keep up with
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2 Fetal Development
Adre J. du Plessis
Upon completion of this chapter the reader will

■ Understand the fundamental principles of structural brain development from
conception to birth
■ Be able to explain the complex interplay between development of brain struc-
ture and brain function across fetal life
■ Know the mechanisms by which environmental factors and their timing disrupt
the normal process of fetal brain development
■ Understand how the development of neural pathways that ultimately connect
the rest of the body to the deep brain structures, and then to the developing
cortex, relate to the emergence of sensory experience and consciousness
Neurologic integrity at birth is a major determi- detectable soon after birth, research increas-
nant of quality of life across a person’s lifespan. ingly suggests that many neurobehavioral con-
This chapter will discuss fundamental aspects ditions presenting later in life, such as attention
of normal brain development in the fetus. deficit disorder, autism spectrum disorders, and
Although development of the peripheral neu- schizophrenia, originate in fetal life.
romotor and sensorineural systems is important Until relatively recently, understanding of
for postnatal function (see Chapters 12 and 13), fetal brain development was based solely on ani-
this chapter will focus only on the development mal studies and human autopsy tissue. Advances
of the central nervous system. in two major areas, neurogenetics and neuro-
A mature brain possesses more than one imaging, have markedly accelerated under-
billion neurons, each with many connections standing of fetal brain development (Bystron,
to other cells. Precise differentiation (special- Blakemore, & Rakic, 2008; Prayer et al., 2006;
ization), localization, and connectivity of these Rados, Judas, & Kostovic, 2006; Ten Don-
cells are critical for normal neurologic function. kelaar & Lammens, 2009). Along with recent
Most of these processes are complete prior to insights into the genetic determinants of nor-
birth, and any disruption may lead to irrevers- mal brain development, recognition has been
ible structural and functional brain impair- rapidly growing of the impact of environmen-
ment. Even though many such problems are tal influences on neural development, either
25
26 du Plessis
directly or through epigenetic mechanisms (see STRUCTURAL

Chapter 1). In fact, advances in both these areas DEVELOPMENT OF THE BRAIN
have blurred the traditional distinction between
viewing influences on development as one of Brain development proceeds along a highly
either genetic or environmental. programmed series of overlapping phases, each
Any discussion of events during fetal brain of which has a period of peak growth that moves
development requires a consistent starting point across the different brain regions in a tightly
reference. Embryologists use postconceptional regulated schedule. Each of these maturational
age (PCA), which dates the onset of develop- phases has a “critical period” during which dis-
ment from the presumed date of ovulation, as ruption of development may have irreversible
a metric for development. Within this context and far-reaching consequences. In this sense
intrauterine development is divided into two the timing of a disruption is as important as its
major phases, the embryonic period, over the nature, i.e., “when” is as important as “what.”
first 8 postconceptional weeks and the fetal Paradoxically, these periods of accelerated mat-
period, from 9 weeks until birth (Figure 2.1). uration are also periods of particular vulnerabil-
Clinicians use gestational age (GA) in weeks ity to injury since the precise mechanisms that
referenced to start on the first day of the last promote development normally may increase
menstrual period (i.e., 2 weeks earlier than post- disruption under adverse conditions.
conceptional age); this divides the intrauterine There are a number of classification
period into three trimesters. The first trimester schemes that have been used to outline the
extends over the first 12 weeks, the second from major events in neural development. Table 2.1
13 to 28 weeks, and the third trimester from 29 lists one such approach that defines the vari-
weeks until term (40 weeks). In this chapter we ous overlapping developmental phases and
will primarily use GA to describe developmen- their peak periods of activity. These phases
tal events. include neurulation, neural proliferation,
Figure 2.1. Embryogenesis and fetal development. The changes that take place during embryogenesis, between 3 and 8
weeks after fertilization, are enormous. All body systems are formed, and the embryo takes on a human form. Length increases
20-fold during this time. The fetal period lasts from 9 weeks to birth. Teratogens cause malformations if acting during the time
a specific organ or group of organs are being formed. Damage to an organ during the time represented by a solid bar will lead
to a major malformation, and damage during the time represented by the hatched bar will lead to functional defects or minor
morphological abnormalities. (From Moore, K.L., & Persaud, T.V.N. [1993]. Before we are born: Essentials of embryology and
birth defects [4th ed., inside back cover]. Philadelphia, PA: W.B. Saunders; adapted by permission.)
Fetal Development 27
neuronal migration, and myelination; and formation result in congenital malformations

each is described in the following sections such as spina bifida/meningomyelocoele, and
(Volpe, 2008). encephaloceles (see Chapter 25).
Secondary neurulation is a series of events at
Neurulation the neural tube’s lower edge in which the caudal
The first major phase of nervous system devel- eminence develops into the bottom-most spine
opment in the embryo is neural tube formation, segments and elements of the lower intestine.
or neurulation (Figures 2.2 and 2.3). Between 2 Defects in secondary neurulation result in the
and 4 weeks’ GA, the rostral (anterior) and cau- caudal regression syndrome and can result
dal (posterior) poles of the developing embryo in major malformations of the lower vertebrae,
are established. Along this axis arises a region of pelvis, and spine. Around the time of neural tube
tissue (the primitive streak) which becomes the closure a ridge develops along its dorsolateral
neural plate. Structures appear adjacent to both (backside) aspects. This tissue forms the neural
ends of the neural plate, the rostral prechordal crest, which in turn develops into a variety of
plate and the caudal eminence. There are two structures including spinal and brainstem gan-
stages of neurulation, primary and secondary. glia (masses of nerve cell bodies), melanocytes
Primary neurulation is the process by which the (pigment-forming skin cells), certain endocrine
neural plate develops a midline groove, the edges structures (e.g., thymus, adrenal medulla), ele-
of which fold over, converge, and close to form ments of the heart, and the enteric nervous
the neural tube. The openings (neuropores) system (the subdivision of the autonomic ner-
of the neural tube close around 6 weeks’ GA. vous system that controls the gastrointestinal
Defects in primary neurulation and neural tube system). By 6 weeks’ GA, the rostral end of the
Table 2.1. Time table of major developmental events in fetal brain development
Period of peak
Developmental event activity (GA) Abnormalities (etiologies)
Dorsal induction
Neural tube formation 3–4 weeks Spina bifida (folate deficiency; anti-epileptic drugs;
(primary neurulation) maternal diabetes; excess vitamin A; trisomies 13 and
18); encephaloceles
Caudal eminence development 4–7 weeks Caudal regression syndromes (maternal diabetes)
(secondary neurulation)
Ventral induction
Prosencephalic development 2–3 months
Cleavage Holoprosencephaly (Smith-Lemli-Opitz syndrome; fetal
alcohol exposure; maternal diabetes; retinoic acid)
Midline formation Agenesis of the corpus callosum (Aicardi syndrome;
pyruvate dehydrogenase deficiency; glycemic
encephalopathy); septo-optic dysplasia
Neural proliferation 3–4 months Microcephaly (alcohol, phenytoin, Accutane; radiation;
congenital infections; maternal PKU)
Neuronal migration 3–5 months Schizencephaly (EMX2 gene mutation, fetal stroke),
heterotopias, lissencephaly (Miller-Dieker syndrome;
Fukuyama congenital muscular dystrophy)
Cortical organization 5 months to Polymicrogyria (fetal growth restriction; congenital infec-
years post- tions; metabolic disorders)
natal
Myelination Birth to Hypomyelination (metabolic disorders, congenital infec-
years post- tion; prematurity, hypothyroidism)
natal
Cerebellar-brainstem 2 months to (Ponto) cerebellar hypoplasia (congenital defects in gly-
development postnatal colsylation; congenital infections); Joubert syndrome;
Dandy-Walker malformation
28 du Plessis
Figure 2.2. Development of the central nervous system (CNS) during the first month of the embryonic period. This is a longi-
tudinal view showing the gradual closure of the neural tube to form the spinal column and the rounding up of the head region
to form the primitive brain.
neural tube begins to differentiate into three Subsequent events in neural tube devel-
primary sections, which go on to form the major opment proceed by specialization in which
components the brain: the forebrain, midbrain, regional genetic organizing centers gener-
hindbrain, and cerebellum (Figure 2.4). In ate molecular products that stimulate and/or
summary, by 6 weeks’ GA the basic parts of the inhibit growth differentially. Ventral induction
brain and spinal cord have been established. describes the development of the precursor of
neural crest
neural
plate epidermis
neural crest
notochord epidermis
neural tube
epidermis
neural
notochord crest
neural tube
notochord
Figure 2.3. Stages in dorsal induction with formation of the neural tube, neural crest, and overlying skin and
soft tissue.
the forebrain, and its cleavage into two cerebral genetic disorders such as the Smith-Lemli-
hemispheres (Figure 2.4). This is followed by Opitz syndrome (see Appendix B).
development of the midline structures includ- Each cerebral hemisphere forms a dorsal
ing the corpus callosum, optic and olfactory ves- region which generates major parts of the cere-
icles, pituitary gland, and parts of the face (see bral cortex. These phenomena are discussed
Figure 2.4). This process is regulated by certain below. Subsequent phases of cerebral hemi-
genetic pathways, and mutations in these genes spheric development can be summarized as
can result in a spectrum of brain anomalies, 1) neural proliferation, 2) neuronal migration,
including agenesis (absence) of the corpus cal- 3) cortical organization and synapse formation,
losum, and holoprosencephaly, which involves and 4) myelination.
impaired cleavage of the cerebral hemispheres
and associated facial malformations (Edison
Neural Proliferation
& Muenke, 2003). Such disturbances in brain
development may be seen after early alcohol Neural proliferation occurs during a sustained
exposure (fetal alcohol syndrome) or retinoic period of vigorous cellular division which peaks
acid exposure (high-dose vitamin A given for between 6 and 22 weeks’ GA, giving rise to
treatment of severe acne), as well as in certain precursors of the future neuronal (grey matter)
Figure 2.4. Development of the brain during fetal life. This is a side view illustrating
the increasing complexity of the brain over time. The forebrain, or prosencephalon,
develops into the cerebral hemispheres; the midbrain, or mesencephalon, develops
into the brainstem; and the hindbrain, or rhombencephalon, develops into the cere-
bellum. Although all brain structures are formed by 4 months, the brain grows greatly
in size and complexity during the final months of prenatal development.
30 du Plessis
and glial (white matter) cell populations of Neuronal Migration

the brain. Neurogenesis (the birth of neu-
rons) starts in the spinal cord and brainstem, After multiple divisions resulting in the pro-
but by the early fetal period involves the entire liferation of neurons, they start to migrate out
periventricular region (the area surround- toward the surface of the brain in successive
ing the ventricles which contain cerebrospinal waves beginning at 12 weeks’ GA and ending
fluid). The cerebral ventricular zone is divided by 20 weeks’ GA (Bystron et al., 2008). The
into the dorsal and ventral neuroepithelium. excitatory pyramidal neurons migrate along
The dorsal neuroepithelium goes on to form radial glia, which are specialized cells that act
the excitatory neuron population (with gluta- as guide “wires” from the ventricular surface to
mate as its primary neurotransmitter) and the the brain periphery (Figure 2.5). The pyrami-
future projection pathways. These pathways dal neurons are destined to play a critical role
are important for cognition, motivation, and in future projection neuronal networks in the
memory. The ventral neuroepithelium gives brain which are involved in cognition. Radial
rise to the future interneuronal population, migration occurs in an inside-out manner, with
which produces the neurotransmitter gamma successive waves of migration passing through
aminobutyric acid (GABA). During early brain earlier layers to occupy a more superficial loca-
development GABA exerts an excitatory function until a mature six-layered cerebral cortex
tion but later switches to become the principal is established. The outermost layer contains
inhibitory neurotransmitter (see Chapter 12). specialized cells that produce reelin, a chemi-
The rapidly growing periventricular cal signal responsible for arresting the migra-
regions are particularly susceptible to certain tion of cells once they reach their appropriate
viruses (such as cytomegalovirus) and other destination layer (Zhao et al., 2006). A genetic
injurious agents such as radiation and alcohol. lack of reelin causes lissencephaly, a “smooth”
Not surprisingly, agents that impair neural pro- brain with a lack of development of folds (gyri)
liferation result most commonly in microceph- and grooves (sulci). Disturbances in reelin pro-
aly (abnormally small head), amongst other duction may also play a role in complex partial
developmental disturbances. seizures and autism.
tangential
migration
marginal zone
cortical plate
dorsal subplate zone
MZ
IZ Intermediate zone
tangential
migration
ventricle subventricular zone
LGE
ventricular zone
MGE
striatum
ventricle
radial
ventral migration
Figure 2.5. Radial and tangential neuronal migration between 12–20 weeks’ gestation. Radial
migration emanates from the ventricular zone of the dorsal part of the brain, while tangential
migration emanates from the lateral (LGE) and medial (MGE) ganglionic eminences and course in
the intermediate (IZ) and marginal (MZ) zones of the developing brain.
The subplate zone just under the develop- migration occurs tangentially across the surface
ing cortex is a transient architectonic zone that of the cerebellum to form the rapidly growing
plays a critical role in development of the thala- external granular cell layer. After a series of cell
mocortical pathways and their ultimate cortical divisions, these granular cells migrate inwards
connectivity in the neocortex. The major events across the Purkinje cell layer to form the inter-
in organizing the subplate and thalamocortical nal granular layer, a process that extends into
systems occur between 22 and 40 weeks’ GA. postnatal life (Ten Donkelaar & Lammens,
Between 26 and 28 weeks’ GA, the thalamocor- 2009). The sustained growth in the develop-
tical projections begin to penetrate the cortical ing cerebellum exposes it to a prolonged period
plate and form synapses (Kostovic & Judas). of being at risk for injury and developmental
By 29 weeks’ GA, evoked potentials triggered disruption from viruses (e.g., cytomegalovi-
in extremities can be detected over the cortex, rus), and toxins (e.g., alcohol) that stunt the
suggesting functional connectivity between cerebellum’s growth. In addition, cerebellar
peripheral sensory fibers and the cerebral cor- hypoplasia has been associated with certain
tex, setting the stage for a host of functions genetic disorders including Dandy-Walker
such as the conscious experience of sensation syndrome, Werdnig-Hoffman syndrome, and
and other functions coordinating movements Walker-Warburg syndrome.
of the extremities. Once the thalamocortical The relevance of cerebellar development
connectivity is established the subplate begins to developmental disabilities is demonstrated
to recede. by the significant deficits described after fetal
Tangential migration, the other major form or neonatal cerebellar injury. The traditional
of neural migration, follows a more circuitous view of the cerebellum as a purely motor relay
and prolonged path than radial migration (Fig- center responsible for maintaining balance and
ure 2.5). These neurons migrate parallel to the coordinated movements has been challenged
surface of the brain and perpendicular to the by a growing body of evidence suggesting a
radial glia. As these tangentially migrating neu- far more diverse and pervasive role in neuro-
rons approach their destination, they switch to logic function. A cerebellar cognitive affective
a brief radial phase of migration. These cells are syndrome, with nonmotor deficits in cogni-
precursors of the inhibitory (GABAergic) inter- tion, language, and behavioral regulation, has
neuronal system of the mature brain, which been described in adults after cerebellar injury.
enhances regulation and discrete control of This syndrome includes impairment of execu-
excitatory systems in the cortex. Abnormalities tive functions such as planning, set-shifting,
here place the child at greater risk for seizures. verbal fluency, abstract reasoning and work-
ing memory; difficulties with spatial cognition
including visual-spatial organization and mem-
Neural Proliferation ory; and personality change with blunting of
and Migration in the affect or disinhibited and inappropriate behav-
Developing Cerebellum iour (Schmahmann & Sherman, 1998). More
recently, a developmental cerebellar cogni-
The cerebellum has a particularly protracted tive affective syndrome has been described in
development starting in the embryonic period children who survive prematurity-related cere-
and extending across even the first few years bellar injury (Limperopoulos et al, 2007). Here
of postnatal life (Ten Donkelaar & Lammens, deficits range from impaired executive function
2009). This in turn constitutes a prolonged to severe behavioral disturbances that fall into
period of vulnerability to injury and potential the autism spectrum.
disruption of its developmental program. The
cerebellum originates at the midbrain-hind-
Cortical Organization
brain junction between 6 and 8 weeks’ GA, and
its development combines regional growth and and Synapse formation
inhibition. The developing cerebellum has two Neuronal activation (i.e., firing of electical
growth regions (Figure 2.6). A primary prolif- impulses) is critical for brain development.
erative zone adjacent to the ventricle sends cells Normal cortical organization and connectivity
to form the cerebellar nuclei and Purkinje cells requires appropriate regional neuronal activa-
(which are the only cerebellar output pathway tion in order to maintain local growth factor
for motor coordination). A second wave of neu- levels and to activate local genetic programs.
ral progenitors migrates to the lateral aspects of This is the basis for the dictum that Neurons
the future cerebellum, where a further wave of that fire together, wire together; those that don’t,
32 du Plessis
external granular layer secondary neuroepithelium

Purkinje layer
internal granular layer
deep nuclei
primary
neuroepithelium rhombic lip
neuroblasts
fourth
ventricle
cells migrating to form

brainstem nuclei
Figure 2.6. Cross section of the developing cerebellum showing migration pathways
from the primary and secondary neuroepithelial layers.
won’t. The interplay between neuronal acti- negatively in Down syndrome and fragile X
vation and structural development occurs in syndrome and has also been implicated in
the immature brain in two major ways: non- ADHD and learning disabilities.
synaptic communication, and development of At this point in development, pathways
synaptic communication During early brain from the periphery have not yet established
development, nonsynaptic communication occurs effective connectivity with the cerebral circuitry
with neurons and neural networks being driven and are confined, for the most part, to loops of
by a rudimentary excitability. Neurons are activity between the spine and brainstem, the
coupled by electrical “synapses” that facilitate so-called primitive reflexes. The next phase is
rapid co-firing of neuronal populations. During marked by the development of synaptic communi-
this phase the neurotransmitter GABA has an cation and synapse-driven networks. The abun-
excitatory action, and the re-uptake system that dant chemical synapses generated earlier are
removes GABA is poorly developed (Ben-Ari, unstable and require a threshold of activation to
2006). This results in elevated GABA levels sur- become stabilized synapses; if not activated, they
rounding the cells which keep neuronal circuits recede. This switch to a cortical receptor-medi-
in a partially depolarized, and thus excitable, ated synaptic network is critical for establishing
state (Akerman & Cline, 2007). This, in turn, the level of complexity required for the behav-
facilitates the generation of a primitive neural iorally relevant actions essential for postnatal
activity presenting as spontaneous and recur- life. Synapses are concentrated on spine-like
rent bursts of high-voltage activity, called giant processes of the neuronal dendrites (branched
depolarizing potentials (GDP). Although these projections that conduct electrochemical stimu-
GDP are not related to environmental stimulation received from another neuron to the cell
lation and contain little information, they are body). During this critical period, refinement
fundamental to constructing early functional of cortical maps becomes experience-driven,
neural networks and to forming basic corti- which only becomes possible when: 1) GABA’s
cal maps (Khazipov et al., 2004). Although action shifts from excitation to inhibition (Jeli-
this neural activation is itself independent of tai & Madarasz, 2005); 2) sufficient density of
chemical synapses, it is an important trigger the excitatory neurotransmitter glutamate syn-
for subsequent synapse formation through gene apses is achieved; and 3) information transfer
activation and growth factor support. In fact, across synapses becomes more discrete, with
this activity results in major overproduction of rapid clearance of neurotransmitters from the
synapses, which require “pruning back” dur- synaptic cleft. In summary, although complex
ing subsequent phases or reorganization (see genetic mechanisms drive the organization and
Chapter 12). This pruning activity is affected connectivity of the developing cerebral cortex,
both spontaneous and experience-driven activ- is particularly vulnerable to injury, such as

ity plays a critical role in establishing and con- that generated by infection-inflammation and
solidating neural networks. When this does hypoxia-ischemia (lack of adequate oxygen-
not occur, the risk for various developmental ation or circulation). This is a particular risk for
disabilities increases. For example, in Rett syn- premature infants. Such injury of immature oli-
drome (see Appendix B) there is a decrease in godendrocytes typically has a delayed presenta-
dendritic spines and resultant abnormal synap- tion, only becoming evident when the expected
tic function. myelination fails to occur. One manifestation
As fundamental as the progressive acqui- of this injury is a form of cerebral palsy termed
sition of neural elements described above is spastic diplegia (see Chapter 24).
to normal neurodevelopment, so too are sub-
sequent events that actively prune and reor- FUNCTIONAL DEVELOPMENT
ganize the brain structure. Failure of such
OF THE FETAL NERVOUS SYSTEM
events may cause impaired neurologic func-
tion. During fetal brain development, an excess For obvious reasons the study of functional brain
of neural structures is created, ranging from development in the fetus has been based primar-
whole cells to cellular elements such as syn- ily on observations of fetal motor behavior. The
apses. Significant reorganization then takes earliest description of fetal movements was by
place involving the regression of redundant Erbkam in 1837 who reported on the behaviors
synapses, withdrawal of axons from crowded of spontaneous miscarriages. It was not until
areas, and changes in the profile of neurotrans- the advent of fetal ultrasound in the early 1970s
mitters. In addition, redundant neurons are that visualization of the fetus’s active behavior
culled by the active energy-dependent pro- became possible (de Vries, Visser, & Prechtl,
cess called apoptosis (programmed cell death; 1985). Since then rapid advances in ultrasound
Narayanan, 1997). technology, such as 3D ultrasound in the early
1990’s and more recently 4D ultrasound (show-
ing fetal activity), have provided increasingly
Myelination
detailed observations of fetal behavior. This
The efficacy of neural connectivity depends approach provides a potential window on the
not only on successful conduction of electrical functional development of the fetal nervous sys-
impulses to target sites, but on the speed and tem, complementing the insights into structural
coordination of their transmission. Connec- brain development provided by advanced fetal
tivity is driven by axonal growth cones, which imaging. Under adverse conditions neurologic
respond to attractant and repellant signals function becomes impaired before the devel-
that guide them to their destination. Conduc- opment of permanent structural brain injury.
tion along axons is accelerated by the process Consequently, a greater understanding of fetal
of myelination. In this process a group of oli- behavior and its relationship to brain devel-
godendrocytes (a type of glial cell) that attach opment may provide important indicators of
along the length of an axon wrap the axon in a failing intrauterine support prior to the devel-
lipid-rich myelin sheath, interrupted by minute opment of irreversible brain injury, opening the
nodes of exposed axonal membrane. By allow- possibility of intervention during fetal life to
ing action potentials to “hop” from one node to prevent or ameliorate brain injury.
the next, neural transmission is markedly accel- Specific fetal movements start very early in
erated. During fetal development myelination development, well before development of the
starts in the spinal cord and brainstem, then fundamental structural apparatus of the central
proceeds upward into the cerebrum. How- nervous system. Studies in primates confirmed
ever, by the time of birth at term myelination that these early fetal movements are expressions
has only advanced into the brainstem, cerebel- of spontaneous neural discharges (discussed
lum, and internal capsule (white matter near above). The earliest fetal movements are seen
the thalamus). Myelination of the cerebral between 10 and 12 weeks’ GA and consist of
white matter is relatively late, reaching its peak brief flexion/extension movements of the trunk.
during the first year of postnatal life (Kinney, These are followed one week later by isolated
Brody, Kloman, & Gilles, 1988). During the movements of the head and extremities. There-
fetal period oligodendrocytes go through sev- after a broad repertoire of fetal movement pat-
eral stages of development before becoming terns accumulates, although many of the earliest
capable of forming myelin. During this period movement patterns are retained through fetal
of maturation the immature oligodendrocyte life and into early neonatal life. Certain early
34 du Plessis
patterns of stereotypic movements reflect acti- fetal movements in the growth-restricted fetus
vation in the spinal cord and brainstem. Ini- are described as slow, monotonous, and erratic,
tially the activation of these movement patterns with decreased variability in strength and
is spontaneous, but later they may be triggered amplitude, while those in diabetic pregnancies
by sensory stimuli. Sensorimotor spinal reflex appear monotonous, rigid or chaotic. In the
loops generating primitive reflex responses may anencephalic fetus which has no cerebral hemi-
be present as early as 10 weeks’ GA as evidenced spheres (see Appendix B), jerky, forceful, large-
by, for example, fetal motor responses to tactile amplitude movements probably reflect the lack
stimulation from a co-twin. of modulation as a result of absence of the cere-
Early reflex responses are shock-like and bral hemispheres.
massive, suggesting a paucity of synapses and
little modulating influence from the brain cen-
ters down onto the spinal nerves. With matu- SUMMARY
ration, descending cerebral influences act upon
intervening synapses in these spinal and brain- Assembly of the basic neural apparatus required
stem reflex loops, resulting in more discrete and for a newborn infant to engage in postnatal life
localized reflex movements. This cerebral mod- requires the successful unfolding of a highly
ulation of spinal-brainstem activity is mainly complex series of events during fetal life. Fun-
inhibitory, as evidenced by the diminution of damental to the development of a structurally
reflexes to repeated stimulation. For example, and functionally integrated nervous system
ringing a loud bell will lead to startle-like fetal is the emergence of nerve cell activation, at
movements, but repeated close-interval ringing first resulting from spontaneous discharges
will cause the startle to dampen and then disap- in crude regional circuits. Toward the end of
pear. This is an early example of learning. gestation and into postnatal life discrete syn-
From 17 to 22 weeks’ GA a variety of aptic connectivity becomes established and
facial movements emerge including mouth- modified by sensory stimuli from the internal
ing, swallowing, yawning, and hiccuping. Facial and external environment. Conversely, other
responses to peripheral stimulation develop underutilized neural structures are pruned
early in gestation, and are probably mediated back. A host of blood-borne influences may
by subcortical systems. More complex facial act through the placenta to disrupt this com-
movements resembling emotional expressions plex interaction between brain activation and
emerge during the third trimester, at a time development. Understanding of the critical in
when connections between the thalamus and vivo events of normal brain development has
cortex are being formed. Fetal eye movements been accelerated by increasingly sophisticated
start at 18 weeks, become rapid at 21 weeks, and fetal imaging of brain structure and function.
become consolidated into active and nonactive These advances promise to lead to the earlier
periods between 26 and 28 weeks’ GA (Nijhuis, detection of abnormalities and the enhance-
Prechtl, Martin, & Bots, 1982). ment of interventions to minimize the often
Development of the autonomic nervous catastrophic repercussions of abnormal fetal
system is reflected in changing heart rate and brain development.
breathing patterns with advancing gestation.
These various aspects of fetal activity (gross
motor, facial and eye movement, heart rate
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stabilize into recognizable coordinated behav- of GABAergic signaling during neural circuit forma-
tion. Trends in Neuroscience, 30(8), 382–389.
ioral states around 36 weeks’ GA. In summary, Ben-Ari, Y. (2006). Basic developmental rules and their
these patterns of fetal motility and behavioral implications for epilepsy in the immature brain. Epi-
state have a well-characterized development in leptic Disorders, 8(2), 91–102.
the normal fetus which can now be followed by Bystron, I., Blakemore, C., & Rakic, P. (2008). Develop-
ment of the human cerebral cortex: Boulder Com-
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maternal steroid administration, cigarette The emergence of fetal behaviour. II. Quantitative
smoking, maternal stress, fetal growth restric- aspects. Early Human Development, 12(2), 99–120.
Edison, R., & Muenke, M. (2003). The interplay of
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Although lacking in sensitivity and specificity, cholesterol. Congenital Anomalies (Kyoto), 43(1), 1–21.
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the early neuronal development. International Review R.S. (1982). Are there behavioural states in the human
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Khazipov, R., Sirota, A., Leinekugel, X., Holmes, G.L., Prayer, D., Kasprian, G., Krampl, E., Ulm, B., Wit-
Ben-Ari, Y., & Buzsaki, G. (2004). Early motor activ- zani, L., Prayer, L., & Brugger, P.C. (2006). MRI of
ity drives spindle bursts in the developing somato- normal fetal brain development. European Journal of
sensory cortex. Nature, 432(7018), 758–761. Radiology, 57(2), 199–216.
Kinney, H.C., Brody, B.A., Kloman, A.S., & Gilles, F.H. Rados, M., Judas, M., & Kostovic, I. (2006). In vitro
(1988). Sequence of central nervous system myelina- MRI of brain development. European Journal of Radi-
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in autopsied infants. Journal of Neuropathology and Schmahmann, J.D., & Sherman, J.C. (1998). The cerebel-
Experimental Neurology, 47(3), 217–234. lar cognitive affective syndrome. Brain, 121(4), 561–579
Kostovic, I., & Judas, M. (2010). The development Ten Donkelaar, H.J., & Lammens, M. (2009). Devel-
of the subplate and thalamocortical connections opment of the human cerebellum and its disorders.
in the human foetal brain. Acta Paediatrica, 99(8), Clinics in Perinatology, 36(3), 513–530.
1119–1127. Visser, G.H., Laurini, R.N., de Vries, J.I., Bekedam,
Limperopoulos, C., Bassan, H., Gauvreau, K., Rob- D.J., & Prechtl, H.F. (1985). Abnormal motor behav-
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3 Environmental
Toxicants and
Neurocognitive
Development
Jerome Paulson
Upon completion of this chapter, the reader will be able to

■ Describe vulnerable periods in the neurocognitive development of children
■ List and discuss several known neurotoxicants
■ Describe possible mechanisms of action of neurotoxicants
■ Discuss current limitations on protecting children from neurotoxins and other
hazardous chemicals
A pregnant woman, 4 weeks after concep- birth, are discussed in the following sections.
tion, ingests a chemical called glutarimide The experience with thalidomide also under-
(N-phthalimido) and subsequently delivers a scores the importance of premarket testing and
term infant with severely malformed and short- postmarket surveillance, not only of chemi-
ened arms and legs (phocomelia). A woman at cals that are intended for ingestion by humans
30 weeks’ gestation ingests the same chemical (i.e., drugs), but of all chemicals that enter the
and delivers a term infant with no visible con- human body. These issues are the focus of this
genital anomalies. This chemical is also known chapter.
as thalidomide. It was widely marketed over Via animal and human studies, over 1,000
the counter in Europe, Canada, and Japan in chemicals have been identified as potential
the 1950s and early 1960s, specifically recom- neurotoxicants (causes of neurologic injury;
mended for the control of morning sickness in Grandjean & Landrigan, 2006). The range of
pregnant women. Neither premarket testing outcomes from exposure to these chemicals
nor postmarket follow-up of the effects of the includes: 1) fetal death; 2) death at an older age
chemical exposure were required at the time. It related to early or recent exposure; 3) malfor-
is estimated that about 10,000 infants were born mations related to in utero exposure; 4) growth
worldwide with various birth defects result- retardation related to in utero or later exposure;
ing from first trimester thalidomide exposure 5) developmental disabilities including intellec-
(Franks, Macpherson, & Figg, 2004; Silverman, tual disability, learning disabilities, and cerebral
2002). The widely diverse consequences of tha- palsy; and 6) so-called “subclinical outcomes,”
lidomide exposure underscore the importance such as statistically significant decrements in
of specific windows of vulnerability in utero. IQ, executive functioning, and/or adaptive
Windows of vulnerability, both before and after skills (Faustman, Silbernagel & Fenske, et al.,
37
38 Paulson
2000; Gilbert, 2008; Grandjean et al., 2008; SCOPE OF THE ISSUE

Grandjean & Landrigan, 2006; Selevan, Kim-
mel, & Mendola, 2000; Weiss, 2000). In 2000, an expert panel, convened by the U.S.
Many chemicals have been shown to National Academy of Sciences (NAS), esti-
have similar detrimental effects in animals and mated that 3% of all neurobehavioral disorders
humans. For example, learning deficits have in children are directly caused by exposure to
been associated with exposure to metals includ- environmental contaminants and that another
ing cadmium, lead, mercury, and manganese; 25% are caused by interactions among environ-
solvents including toluene, xylene, and ethanol; mental factors, including “infection, nutritional
and other chemicals including polychlorinated deficiencies and excesses, life-style factors (e.g.,
biphenyls (PCBs), nicotine, and dioxins (Koger, alcohol), hyperthermia, ultraviolet radiation,
Schettler, & Weiss, 2005). These observations X-rays, and … the myriad of manufactured
suggest that different toxicants—acting on spe- and natural agents encountered by humans”
cific developmental processes that occur at a (National Academy of Sciences Committee
given time in development—can have the same on Developmental Toxicology, 2000). In 2006,
or similar outcomes. the World Health Organization estimated that
Conversely, individual chemicals have environmental causes, including metals, pes-
been associated with a range of outcomes. For ticides, stress, and so forth, account for about
example, exposure to PCBs in children has been 13% of all neuropsychiatric diseases (Prüss-
associated with learning disabilities, attention- Üstün & Corvalán, 2006). Landrigan et al.
deficit/hyperactivity disorder (ADHD), and (2002) have estimated that in the United States
memory impairments. Exposure to lead has the annual cost for lead poisoning is $43.4 bil-
been associated with learning disabilities, lion and the annual cost for neurobehavioral
decreased IQ, ADHD, violent behaviors, and disorders is $9.2 billion.
aggression. This suggests that exposure to the
same toxicant during different developmen- SUSCEPTIBLE
tal time periods can lead to different adverse
PERIODS OF DEVELOPMENT
effects. Beyond chemicals, toxicants such as
radiation can also adversely affect neurodevel- The environment can affect development
opment. before conception by influencing the sperm or
Only a small fraction of the thousands of ova. Once conception takes place, the embryo
known chemicals have been proven to cause and (later) the fetus are susceptible to a num-
developmental neurotoxicity in humans (see ber of factors including drugs, chemical toxi-
Figure 3.1). This does not necessarily mean cants, infections, and physical factors, such as
that other chemicals do not cause neurotoxicity, radiation, that influence developmental out-
only that this association remains untested or comes. Even after a child is born, infection,
unproven. chemical, and physical factors can influence
Chemicals known to be toxic to human

neurodevelopment
Chemicals known to be neurotoxic in

human beings
Chemicals known to be neurotoxic in

experiments
Chemical universe
Figure 3.1. Diagram of the extent of knowledge of neurotoxic chemicals. (From Grandjean, P. and Landrigan, P.J. Developmen-
tal neurotoxicity of industrial chemicals. Reprinted with permission from Elsevier [The Lancet, 2006, Vol. 368, pp. 2167–2178]).
Environmental Toxicants and Neurocognitive Development 39
developmental outcomes. Because brain matu- not removed from gasoline until the late 1990s.
ration continues into early adulthood, with Because of these bans, the median blood lead
completion of myelination of the frontal lobes, level among children 1–6 years of age in the
it can theoretically be influenced by environ- United States has decreased from 14.9 mcg/dL
mental factors for two decades (Brent, Tanski, in the late 1970s to less than 2 mcg/dL today
& Weitzman, 2004; Faustman, Silbernagel, (America’s Children and the Environment,
Fenske, & Burbacher, 2000; Mendola, Selevan, 2010).
Gutter, & Rice, 2002; Rice & Barone, 2000; Despite these improvements, lead poison-
Selevan et al., 2000). ing remains a significant problem, primarily
because of lead dust in the home (United States
SPECIFIC TOXICANTS Environmental Protection Agency, 2010a).
Lead-containing paint flakes off surfaces in
While it is impossible to discuss each of the microscopic or macroscopic particles, and these
over 1,000 chemicals that have been identified settle to the floor. Young children are frequently
as potential neurotoxicants, this section will on the floor, and these particles stick to their
focus on several chemicals that are common hands. The lead is then ingested as the children
causes of neurotoxicity. These are examples of engage in normal hand-to-mouth activity. Chil-
neurotoxicants that are better understood than dren younger than 2 years of age absorb about
others or they represent emerging concerns. half of the lead that they ingest, much more
than adults, who absorb only 10% (Agency for
■ ■ ■ MP Toxic Substances and Disease Registry, 2007).
MP is a 22-year-old African American male. He The lead enters the bloodstream and can dam-
age many organ systems, including the brain.
was the product of an uncomplicated preg-
The degree and type of damage from
nancy, labor, delivery, and neonatal course.
lead is a function of the timing of exposure.
From 12–36 months of age, he lived in an For example, lead exposure causes peripheral
apartment with deteriorating lead paint. His neuropathy (damage to nerves in the arms and
venous blood lead levels were: 18 mcg/dL at legs) in adults, whereas it results in damage to
18 months, 24 mcg/dL at 20 months, 26 mcg/ the CNS in young children. The degree and
dL at 24 months, and 16 mcg/dL at 48 months. type of damage from lead is also a function of
There is no history of head trauma, meningitis, dose. It is not clear, however, whether the best
or other central nervous system (CNS) pathol- measure of dose is the maximum blood lead
ogy. He dropped out of high school in the 11th level, a lifetime average blood lead level, or
grade after failing all academic subjects for 2 some other measure. The duration of exposure
also influences degree and type of damage to
years, and he has been incarcerated twice for
the CNS (Canfield et al., 2003; Canfield et al.,
illicit drug use. Neuropsychological testing at
2004; Lanphear et al., 2005).
age 22 shows a Full-scale IQ of 95, evidence of More is known about the specific neuro-
attention deficit disorder on trail-making and pathology and functional neurological defects
other tests, and evidence of executive function related to lead exposure than other toxicants.
disorder. MP’s lead poisoning is a contributing Low levels of lead interfere with the structure
factor in his neurocognitive and behavioral of the CNS and with neurotransmitter func-
problems. tion. CNS support cells, oligodendrocytes, and
astrocytes are damaged by lead. This results
Lead in abnormal myelination and disruption of
Lead is one of the most studied neurotoxicants, the movement of nerve cells from one place
with the Greeks and Romans first describing the to another in the developing CNS (neuronal
toxicity of lead in adults. In 1904, J. Lockhart migration). In animal research models, expo-
Gibson, an Australian pediatrician, recognized sure to low levels of lead reduces the number
lead poisoning in children related to exposure of neural stem cells that are transformed into
to paint. Gibson recommended that lead-based neurons and oligodendrocytes, and increases
paint be banned in environments where chil- the number that are transformed into astro-
dren live and play. Bans on lead paint were put cytes (Lidsky & Schneider, 2003). This means
in place in many European and Latin American there are fewer cells involved in cognition and
countries by the 1930s. As a result of industrial motor function and more support cells. Low
lobbying, lead paint was not banned for inte- levels of lead also alter the function of the dopa-
rior use in the United States until 1978 and was mine system in animals. This may explain the
40 Paulson
association between lead exposure, attention development. At this point, the benefits of eat-
deficits, and executive-function deficits in chil- ing fish outweigh the risks (Budtz-Jorgensen,
dren. Structural and functional neuroimaging Grandjean, & Weihe, 2007). However, young
studies in humans document that early expo- children as well as women who may become
sure to lead decreases adult gray matter, alters pregnant, who are pregnant, or who are nursing
white matter microstructure (which is associ- should avoid high-mercury fish: shark, sword-
ated with decreased brain volume), and affects fish, king mackerel, and tilefish. They should
language function. preferentially consume lower-mercury fish and
In terms of treatment, chelation therapy seafood: shrimp, canned light tuna, salmon,
(i.e., administration of medication that binds to pollock, and catfish (Environmental Protection
lead and increases its excretion in the urine) for Agency and the Food and Drug Administration,
children with extremely high blood lead levels 2004).
(≥ 70 mcg/dL; level of concern is ≥10 mcg/dL) Prenatal exposure to extremely high doses
can prevent seizures, coma, and death. Unfortu- of MeHg results in severe brain damage with
nately, chelation has not been found to prevent microcephaly, seizures, and severe cognitive
or reverse the neurocognitive damage (Dietrich and motor deficits (Bakir et al., 1973). These
et al., 2004). effects were first recognized in 1956 in Mina-
mata, Japan, where MeHg was released into
Mercury the wastewater by a chemical plant (Ekino,
Mercury is neurotoxic in the form of elemental Susa, Ninomiya, Imamura, & Kitamura, 2007).
mercury (primarily when it enters the body via Childhood exposure to acute doses of MeHg (as
inhalation of mercury vapor) and as inorganic occurred in Minamata) is associated with cog-
or organic compounds, particularly methyl nitive and motor deficits; however, adults simi-
mercury (MeHg; Agency for Toxic Substances larly exposed may have only minimal effects
and Disease Registry, 2001). There is no evi- (Elhassani, 1982; Pierce et al., 1972).
dence to support the concern that ethyl mer- Research on low-dose MeHg exposure in
cury, when used as a preservative in vaccines, is the Faeroe and Seychelle Islands, where fish
neurotoxic. More specifically, extensive review containing MeHg is consumed as a primary
by the U.S. National Academies of Sciences and food, has yielded variable results. Some stud-
other groups have found no evidence that ethyl ies showed evidence of dose-responsive dec-
mercury in the form of Thimerosal is a cause of rements in IQ and impairments in memory,
autism (Andrews et al., 2004; Institute of Medi- attention, language, and visuospatial percep-
cine, Immunization Safety Review Committee, tion (Grandjean et al., 1999; Grandjean et al.,
2004). 2003; Yorifuji, Debes, Weihe, & Grandjean,
Mercury vapor exposure can occur through 2011). Other studies did not find a relationship
breakage of mercury containing devices such between prenatal exposure to MeHg and sub-
as thermometers, barometers, and fluorescent sequent neurocognitive deficits in the children
light fixtures. The amount of mercury vapor in (Davidson, Myers, Weiss, Shamlaye, & Cox,
an individual compact fluorescent light bulb is 2006; Myers et al., 2009).
not sufficient to be toxic. However, disposing of In the years 2005–2008, about 3% of
millions of such light bulbs is a pending envi- women of childbearing age in the United States
ronmental health challenge. were found to have blood mercury levels about
The release of mercury vapor into the air 5.8 parts per billion, levels indicated by the EPA,
through coal combustion is not likely to cause that put children at some risk of adverse health
toxicity because concentrations are low. How- effects (United States Environmental Protec-
ever, when that mercury deposits on the land tion Agency, 2010b). In a review of all data
or in aquatic environments, bacteria in the soil on prenatal exposure to MeHg, the National
or water convert mercury to methylmercury Academy of Sciences Committee on Develop-
(MeHg). In aquatic environments, the MeHg mental Toxicology (2000) concluded that there
is bioaccumulated in small organisms and is a strong association between MeHg exposure
then biomagnified up the food chain as larger in utero and neurocognitive deficits, including
organisms eat many smaller ones. Humans are small decreases in IQ and abnormalities in neu-
exposed to the MeHg when they eat contami- ropsychological tests of memory, attention, lan-
nated fish or shellfish. Although fish are the guage, and visuospatial perception.
most likely source of MeHg, they are also an The mechanism of MeHg toxicity is not as
important source of omega-3 fatty acids, which well known as that of lead, but it is probably
are important for normal brain growth and similar. Like the damage caused by lead, the
damage caused by MeHg is dependent on the Developmental Disabilities, the Centers for
timing and the amount of the exposure. High Disease Control and Prevention & the Depart-
doses adversely affect mitosis, cellular migra- ment of Health and Human Services, 2004).
tion, and organization of neurons in the cortex. Developmentally and behaviorally, in utero
MeHg is associated with oxidative damage to ethanol exposure can manifest itself as micro-
neurons and alteration of calcium metabolism. cephaly, behavior problems, ADHD, executive
At low doses, MeHg is associated with altera- function deficits, and learning problems. Imag-
tions in neurotransmitters (Meyers et al., 2009). ing studies document decreased brain volume
and abnormalities of the corpus callosum, basal
Arsenic ganglia, and other brain structures (Guerri,
Arsenic in high doses can be fatal, and chronic Bazinet, & Riley, 2009).
arsenic exposure can lead to neurotoxicity and
cancer (Grandjean & Murata, 2007; Tofail et al., Polychlorinated Biphenyls
2009; Vahidnia et al., 2007; Vahter et al., 2008). Polychlorinated biphenyls (PCBs) are a group
Exposure of children usually occurs through of industrial chemicals that share a similar
ingestion of naturally contaminated drinking molecular structure; they were used in the elec-
water or through contact with contaminated tronics, plastics, paint, and pesticide industries
industrial sites. Over 100 million people world- from the 1930s to 1970s. PCBs are fat-soluble;
wide are exposed to elevated levels of arsenic in therefore, they bioaccumulate and persist for
drinking water. Arsenic can cross the placenta extremely long periods of time in the environ-
and enter breast milk when mothers are exposed ment. This accounts for why they remain a
through water or land/industrial contamina- concern 40 years after being banned. PCBs can
tion. Manifestations of central neurotoxicity cross the placenta and are also found in breast
are similar to other toxicants: problems with milk. Postnatal human exposure is generally
learning, short-term memory, decreased IQ, through food but can also occur through expo-
and concentration. Peripheral neurotoxicity, sure to contaminated waste sites. Fish are the
with delayed nerve conduction velocities, is also most likely source of PCBs, however, because
common. Mechanisms of action are thought to fish are an important source of the omega-3
be DNA hypomethylation leading to abnormal fatty acids, the benefits of children eating fish
gene expression and interactions with the endo- outweigh the risks (Budtz-Jorgenson et al.,
crine system. 2007). While low in MeHg, farm-raised salmon,
whether sold fresh or canned, may be high in
Alcohol PCBs and should be avoided by young children
Maternal ingestion of alcoholic beverages dur- and by women who might become pregnant,
ing pregnancy can lead to fetal alcohol spec- who are pregnant, and who are nursing.
trum disorder (FASD), a wide range of physical, PCBs have been shown to be neurotoxic in
behavioral, and cognitive problems in the child; animals, and high-dose human intake through
damage depends on the amount, timing, and food contamination has been associated with
duration of the consumption (American Acad- cognitive delays, behavior disorders, growth
emy of Pediatrics Committee on Substance retardation, and other findings. Outcomes asso-
Abuse and Committee on Children with Dis- ciated with low-dose exposure to PCBs in utero
abilities, 2000). Moderating factors include and after birth indicate small deficits in neuro-
maternal nutrition, stress, and tobacco con- motor development and IQ, along with prob-
sumption (Guerrini, Thomson, & Gurling, lems with attention and impulse control (Eubig,
2007; Riley & McGee, 2005). There is no Aguiar, & Schantz, 2010; Faroon, Keith, Jones,
known safe level of alcohol consumption dur- & De Rosa, 2001; Schantz, Widholm, & Rice,
ing pregnancy. More severe manifestations of 2003).
FASD are termed fetal alcohol syndrome (FAS),
and more subtle manifestations are termed par- Pesticides
tial fetal alcohol syndrome (pFAS). Another There are over 1,300 chemicals registered as
term used to describe FASD manifestation is pesticides in the United States. These range
alcohol-related neurodevelopmental dis- from elements such as sulfur to complex
order (ARND; Chasnoff, Wells, Telford, organic molecules. In 2001, over 1.2 billion
Schmidt, & Messer, 2010). pounds of pesticides (e.g., herbicides, insec-
Guidelines for diagnosing FAS are avail- ticides, fungicides) were used in the United
able (National Center on Birth Defects and States. Most insecticides kill pests by disrupting
42 Paulson
their nervous systems. About three quarters metabolism, binding action, or elimination
of households in the United States use pesti- of natural blood-borne hormones that are
cides (either inside the home or outside), and present in the body and are responsible for
exposure also occurs through consumption of homeostasis, reproduction, and developmental
food that has been contaminated in agricultural process” (United States Environmental Pro-
settings. Pesticides (as sold) are mixtures of an tection Agency, 2009). A very diverse group of
active ingredient plus so-called “inert ingredi- chemicals have endocrine disrupting properties
ents” (i.e., those components which do not kill including phthalates, PCBs, polychlorinated
pests). However, inert ingredients actually may dibenzodioxins, brominated flame retardants,
be harmful to animals and humans. dioxins, DDT, perfluorinated compounds
Dichlorodiphenyltrichloroethane (DDT), (PFCs), organochlorine pesticides, bisphenol
an organochlorine insecticide, was banned A, and some metals. EDCs can have estrogenic,
in the United States in the 1970s, but it is antiestrogenic, antiandrogenic, antithyroid, or
still used elsewhere in the world. DDT and antiprogestin effects.
its breakdown product dichlorodiphenyldi- Exposure to phthalates, some of the pesti-
chloroethylene (DDE) are still present in the cides, PCBs, and other EDCs have been shown
environment, can cross the placenta, and can to be associated with decreased IQ and other
be transferred from mother to child via breast neurodevelopmental abnormalities. Perchlo-
milk. Higher levels are present in the blood and rate is a compound that has been the object of
breast milk of individuals living in countries still much concern. Perchlorate is a component of
using DDT; however, nearly 100% of Ameri- rocket fuel, and it has been found to contami-
cans have some DDE in their bodies. Although nate the water systems of over 11 million peo-
animal studies show a clear connection between ple in the United States at concentrations of at
early life exposure and adverse neurodevelop- least 4 parts per billion. It has also been found
mental outcomes, studies in humans (particu- in vegetables and in milk. One concern is that
larly those examining DDE exposure) show perchlorate might induce a relative hypothyroid
variable effects, perhaps related to the dose of state in pregnant women or young children,
the exposure, whether the exposure is bolus or thus causing developmental deficits. However,
continuous low dose, the timing of the expo- in a review of all available data prior to 2005,
sure during development, and co-factors, such the National Academy of Sciences (Committee
as stress and nutrition. to Assess the Health Implications of Perchlo-
Prenatal exposure to the organophos- rate Ingestion, 2005) found no evidence of an
phate chlorpyrifos has been associated with an association between perchlorate exposure and
increased risk of developmental delay, ADHD, congenital hypothyroidism or changes in thy-
and autism at 3 years of age (Eskenazi et al., roid function of newborns. The NAS cautioned
2008; Rauh et al., 2000) and deficits in Work- that, “epidemiologic evidence is inadequate
ing Memory Index and Full-Scale IQ at 7 years to determine whether or not there is a causal
of age (Rauh et al., 2011). Based on findings association between perchlorate exposure and
in animal models these abnormalities may be adverse neurodevelopmental outcomes” (Com-
related to alterations in neurotransmitters, and mittee to Assess the Health Implications of Per-
in axonal growth and development (Ahlbom, chlorate Ingestion, 2005).
Fredriksson, & Eriksson, 1994; Ahlbom et al.,
1995; Nasuti et al., 2007). Chlorpyrifos and Mixed Toxicants
diazinon were banned for residential use in the In laboratory settings, animals can be exposed
early 2000s, but other organophosphates are to single toxicants. In the real world, children
still on the market for home use. are usually exposed to multiple toxicants. Dis-
cerning which toxicant is related to which out-
Endocrine Disrupting Chemicals come and whether the various toxicants act
In 2009, the Endocrine Society published a synergistically (i.e., additively or protectively)
comprehensive review of the literature regard- is very difficult. For example, children eating
ing endocrine disrupting chemicals (EDCs; large amounts of seafood can be exposed to
Diamanti-Kandarakis et al., 2009). The U.S. both MeHg and PCBs. Children living near
Environmental Protection Agency (EPA) hazardous waste sites may be exposed to any of
defines an EDC as “an exogenous agent that the contaminants present. In areas where there
interferes with synthesis, secretion, transport, are metal smelters, children can be exposed to
lead, arsenic, and other metals that are being On the other hand, the European Food Stan-
recovered for commercial purposes or which dards Agency has decided that foods contain-
co-occur in the raw ore. ing the colors Tartrazine (E102), Quinoline
Yellow (E104), Sunset Yellow (E110), Car-
Environmental Tobacco Smoke moisine (E122), Ponceau 4R (E124), and Allura
Environmental tobacco smoke is a mixture of Red (E129) must carry a warning label stat-
over 4,000 chemicals (California Air Resources ing that the color “may have effects on activ-
Board, 2005). Prenatal exposure can occur if the ity and attention in children” (Foods Standards
mother smokes or if she is exposed to environ- Agency, 2010).
mental tobacco smoke. In animal studies, pre-
natal exposure to tobacco smoke via the mother
leads to reductions in cortical gray matter and Public Policy Implications
alteration in the development of white mat- Over the past several years, concerns over chil-
ter. Studies of children exposed prenatally to dren’s exposure to neurotoxicant chemicals have
tobacco smoke revealed deficits in speech and included (among others) bisphenol-A in baby
language skills, visual/spatial abilities, behavior, bottles (Grady, 2010), phthalates in soft toys
and IQ (Best et al., 2009; Rauh et al., 2004). (Eilperin, 2009), and perfluorinated chemicals
in cookware (Adams, 2010). From this author’s
Dietary Exposures and Attention- perspective, the United States’ primary federal
Deficit/Hyperactivity Disorder law that controls exposure to toxic chemicals—
Since Feingold (1973) first introduced the idea the Toxic Substances Control Act (TSCA) of
of an association between ADHD and dietary 1976 (PL 94-469)—does not sufficiently pro-
components, there have been hundreds of indi- tect the health of children and pregnant women
vidual articles and several extensive reviews (United States Government Accountability
on the subject (Schab & Trinh, 2004; Stevens, Office, 2005). Unlike pharmaceuticals and pes-
Kuczek, Burgess, Hurt, & Arnold, 2011). The ticides, chemicals intended for any other use do
following dietary components have been con- not have to be tested prior to marketing; fur-
sidered: artificial food colorings (AFC), sugar, thermore, they do not have to be monitored
wheat, eggs, monosodium glutamate (MSG), (postmarket) for problems. In other words,
and other artificial or naturally occurring when a new drug is proposed, the FDA requires
dietary components. In 2008, the Food and testing for both safety and efficacy, but no such
Drug Administration (FDA) was petitioned to process takes place when new chemicals are
ban certain food additives from the diets of all developed for use in the environment. In fact,
children, not just those with ADHD (Center TSCA (again, the primary law that addresses
for Science in the Public Interest, 2008). these issues) creates a disincentive with regard
The literature reviews generally indicate to toxicity testing. The law states that if a com-
that there is a small subset of children with pany knows of problems with a chemical, the
ADHD who do have a worsening of their company must reveal those problems; however,
behavior when exposed to certain food con- if the company does not know of problems (e.g.,
stituents; however, there is a debate regarding if they have not tested for problems), they have
whether this is an allergic or a pharmacologic nothing to report.
mediated behavior change. Only through a A number of organizations have called
carefully constructed elimination diet can a for the reform of TSCA, and legislation has
practitioner determine if a given child with been introduced in several Congresses but has
ADHD is a member of this subset, and it is not not passed. Some states are now trying to pass
recommended that all children with ADHD be state chemical management laws. In some other
subjected to an elimination diet. Rather, the places, laws (Canada) and regulations (Euro-
elimination diet should be reserved for children pean Union) that regulate chemicals are more
whose families suspect a link between dietary protective of children than TSCA. Moving for-
constituents and the child’s behavior. ward, this author believes that the United States
The FDA has concluded that there is should adopt legislation that requires premarket
insufficient evidence of an association between testing of new chemicals and the timely evalu-
food additives and behavioral change to ban ation of existing chemicals. These evaluations
those additives from food for all children (U.S. should include tests that are sensitive to neuro-
Department of Health and Human Services developmental endpoints. (See Paulson, 2011,
and the Food and Drug Administration, 2011). for a more expansive discussion.)
44 Paulson
SUMMARY Brent, R.L., Tanski, S., & Weitzman, M. (2004). A

pediatric perspective on the unique vulnerability
Based on animal and human studies, over 1,000 and resilience of the embryo and the child to envi-
chemicals have been identified as potential ronmental toxicants: The importance of rigorous
research concerning age and agent. Pediatrics, 113,
neurotoxicants. Exposures to different types of 935–944
chemicals have been documented to result in Budtz-Jorgensen, E., Grandjean, P., & Weihe, P. (2007).
similar outcomes both in animal models and in Separation of risks and benefits of seafood intake.
humans. These observations suggest that dif- Environmental Health Perspectives, 115, 323–327.
Canfield, R.L., Henderson, C.R., Cory-Slechta, D.A.,
ferent toxicants can have the same or similar
Cox, C., Jusko, T.A., & Lanphear, B.P. (2003). Intel-
effects on developmental processes when expo- lectual impairment in children with blood lead con-
sure occurs at the same time in development. centrations below 10 μg per deciliter. New England
Conversely, exposure to the same toxicant at Journal of Medicine, 348, 1517–26.
different developmental time periods can lead Center for Science in the Public Interest. (2008). Peti-
tion to ban the use of Yellow 5 and other food dyes, in the
to different adverse effects. In most cases any interim to require a warning on foods containing these
damage to the CNS by environmental hazards dyes, to correct the information the food and drug admin-
is irreversible. For that reason, the focus must istration gives to consumers on the impact of these dyes on
be on prevention of exposure. This author pro- the behavior of some children, and to require neurotoxicity
testing of new food additives and food colors. Washing-
vides the argument that the current legislative
ton, DC: Center for Science in the Public Interest.
framework, the Toxic Substances Control Act, Retrieved from http://cspinet.org/new/pdf/petition-
is inadequate and needs to be revised. food-dyes.pdf
Canfield, R.L., Gendle, M.H., & Cory-Slechta, D.A.
(2004). Impaired neuropsychological functioning in
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4 Birth Defects and
Prenatal Diagnosis
Rhonda L. Schonberg

■ Understand the uses and limitations of noninvasive prenatal maternal blood
screening for birth defects
■ Be knowledgeable regarding the indications for, and limitations of, first- and
second-trimester evaluation of birth defects using the techniques of ultrasonog-
raphy, fetal magnetic resonance imaging, and echocardiography
■ Be aware of the techniques of amniocentesis and chorionic villus sampling to
be able to determine when these invasive diagnostic tests may be indicated
■ Be familiar with alternative reproductive techniques, including in vitro fertiliza-
tion, and understand under what circumstances couples might benefit from
such technologies
■ Learn about new noninvasive prenatal diagnosis technologies currently being
explored
■ Understand the psychosocial needs of families who are at increased risk for
having children with genetic disorders or birth defects
The birth of a child with a developmental dis- Prevention, 2006). These events can affect any
ability or a genetic disorder can have a devas- pregnant woman regardless of age, socioeco-
tating impact on parents, siblings, and extended nomic status, or ethnicity. Although we know of
family members. As couples grieve the loss circumstances that can increase the risk of hav-
of their expected “normal” child and work to ing a child with a birth defect, some of which
accept the child they have been given, they try are discussed in this chapter, most affected new-
to understand what happened to them and why. borns will be born to couples who are unaware
Although most infants are born without com- they are at risk and who have no family history
plications, in the United States 3% of births of similarly affected children. When this occurs,
result in a child with a birth defect or a genetic genetic evaluation (discussed in Chapter 1) can
disorder (Centers for Disease Control and help determine a diagnosis and/or mode of
47
48 Schonberg
inheritance. Advances in prenatal diagnosis and genetic disorders, unexplained infant deaths,
prenatal screening have provided couples with and recurrent pregnancy losses. Information
the opportunity to gain information about their about maternal medication use and occupa-
fetus (e.g., the presence of, or increased risk for tional or other exposures can also provide clues
a birth defect or genetic disorder) and to exam- to possible reproductive risks. Throughout the
ine a range of family planning options. United States, many centers offer the skills
This chapter discusses genetic screening of a genetic counselor (http://www.nsgc.org)
that is available prior to and during pregnancy, combined with the medical expertise of physi-
diagnostic testing available for fetuses who cians trained in genetics to perform this genetic
have been determined to be at an increased risk assessment (An updated listing of these centers
for specific genetic disorders, and alternative can be found at http://www.GeneClinics.org).
reproductive choices. Knowing an individual’s ethnic back-
ground can be one of the initial steps in assess-
■ ■ ■ CHELSEA ing reproductive risk. Individuals from specific
Susan, a 31-year-old woman who had previ- ethnic backgrounds have a higher chance of
ously miscarried, was enjoying an uneventful carrying certain gene mutations known to be
second pregnancy. Her fears were raised in associated with a particular genetic disorder
(see Table 4.1). Most of the disorders ame-
the second trimester, however, when a mater-
nable to carrier screening are inherited in an
nal serum screening test revealed an elevated
autosomal recessive pattern and often have
alpha-fetoprotein (AFP) level. Her obstetri- high morbidity and mortality (e.g., Tay Sachs
cian recommended a detailed fetal ultrasound, disease in the Ashkenazi Jewish population).
which showed a fetal abdominal wall defect Both parents would have to be carriers for there
(gastroschisis). Susan and her husband Rick to be an increased risk (25% with each preg-
met with the genetics staff, who explained that nancy) of having an affected child (see Chap-
gastroschisis is usually an isolated malforma- ter 1). Advanced knowledge of this risk provides
tion. It is not associated with a chromosomal couples with the opportunity to consider alter-
abnormality, additional medical problems, or native reproductive options or to undergo pre-
intellectual disability. After considering the natal diagnostic testing.
A couple may also be at increased risk for
information provided and weighing their risks,
having a child with a genetic disorder if a pre-
the couple decided not to undergo amnio-
vious child or other family member has been
centesis. They met with a pediatric surgeon to diagnosed with the disorder. In these situations,
discuss the management of a newborn with gas- a detailed review of the family history, preg-
troschisis and visited the high-risk nursery where nancy history, and medical records (if avail-
their baby would be treated. On the basis of able) is performed as well as examination of
the information they received, Susan and Rick the affected individual to verify or establish the
decided to continue the pregnancy, and they diagnosis. This process can be extremely help-
prepared for the birth of their child. Susan had ful in discussing reproductive risks and prenatal
ultrasound studies every 3–4 weeks through- testing options.
out the remainder of the pregnancy to monitor As of January 2011, more than 20,000
genetic disorders have been identified (Online
fetal growth and amniotic fluid volume. When
Mendelian Inheritance in Man, 2011). Spe-
delivery came, the family and the surgical team
cific genetic testing is clinically available for
were prepared. Surgery was performed on baby over 2,000 of these disorders, and the num-
Chelsea’s first day of life with an uneventful ber continues to grow (http://GeneTests.org).
recovery. At 1 year of age, Chelsea is a growing, Information about these genetic disorders is
thriving, healthy child. available to the lay public through the Genet-
ics Home Reference, a National Library of
Medicine supported database (http://ghr.nlm.
GENETIC ASSESSMENT
nih.gov); the Genetic Alliance, a clearinghouse
Assessing reproductive risk generally involves for information and support groups for genetic
reviewing an individual’s medical and preg- disorders (http://www.geneticalliance.org); and
nancy history and obtaining an extended family the National Organization for Rare Disorders
history, including the presence of birth defects, (http://www.rarediseases.org).
Birth Defects and Prenatal Diagnosis 49
Table 4.1. Disorders with increased carrier frequencies in particular ethnic groups
Estimated carrier
Ethnic group Disorder at risk frequency
European and North American (Caucasian) Cystic fibrosis 1 in 25
Ashkenazi Jewish (Eastern European Jewish) Tay-Sachs disease 1 in 27
Canavan disease 1 in 40
Cystic fibrosis 1 in 25
Gaucher disease (type 1) 1 in 15
Bloom syndrome 1 in 100
Niemann Pick disease (type A) 1 in 90
Fanconi anemia 1 in 90
Glycogen storage disease (type 1A) 1 in 71
Maple syrup urine disease (MSUD) 1 in 81
Mucolipidosis IV (ML IV) 1 in 125
Familial dysautonomia 1 in 36
African American or Western African Sickle cell anemia 1 in 12
Beta thalassemia 1 in 50
Cystic fibrosis 1 in 61
Mediterranean Beta thalassemia 1 in 15 to 1 in 20
Asian Alpha thalassemia 1 in 8 to1 in 20
French Canadian Tay-Sachs disease 1 in 27
Southeast Asian Beta thalassemia 1 in 4 to 1 in 150
This table was published in Medical complications during pregnancy (5th ed.), B.N. Burrow & T.P. Duffy, in the chapter Clini-
cal Genetics, by Seashore, M.R., p. 216. Copyright W.B. Saunders, 1999; adapted by permission.
Screening Evaluations testing during pregnancy. The following sec-

During Pregnancy tions describe the options available during the
first and second trimesters (Anderson & Brown,
First- and second-trimester screening tests, 2009; Benn, 2002).
offered to all pregnant women, can modify
the risk for having a child affected with Down First Trimester
syndrome, trisomy 18, or trisomy 13. Screen-
ing also helps reduce the risk of pregnancy loss, Screening in the first trimester of pregnancy
which can result from invasive diagnostic test- allows for earlier assessment, diagnosis, genetic
ing that may not be needed. It is well known counseling, and discussion of follow-up test-
that women who will be 35 years old or older at ing. Such evaluations can take the form of first-
the birth of their child have an increased risk to trimester ultrasonography, maternal serum
have a baby with trisomy 21 (Down syndrome) (blood) screening, and screening for disorders
or other chromosomal abnormalities (Hook, that may be common in specific ethnic groups
1981; Morris, Wald, & Mutton, 2003; see Fig- (e.g., mutations associated with cystic fibrosis,
ure 4.1). It has been recommended for many sickle cell disease, Tay Sachs; see Table 4.1).
years that women in this age group have routine Although there have been continued advances
screening. More recently, the American College in first-trimester screening, ACOG continues
of Obstetrics and Gynecology (ACOG) has rec- to recommend that all women age 35 or older
ommended that prenatal screening be offered also be offered diagnostic testing for chromo-
to all women, regardless of age (American Col- some abnormalities using chorionic villus
lege of Obstetricians and Gynecologists, 2007). sampling (CVS) performed in the first trimes-
The standard of care for prenatal service ter or amniocentesis performed in the second
providers in developed countries is to offer trimester (American College of Obstetricians
screening evaluations and genetic diagnostic and Gynecologists, 2007; see Table 4.2).
50 Schonberg
Figure 4.1. Risk of trisomy 21 and all chromosome abnormalities in pregnant women of various ages. Risk
increases markedly after 35 years of age (Source: Hook, 1981).
First-Trimester Ultrasound birth defects can also be identified in the first

trimester, allowing for decisions about follow-
Early ultrasound can establish fetal viability,
up testing (Nyberg, Hyett, Johnson, & Souter,
determine the number of fetuses (especially
2006).
useful in cases involving assisted reproduc-
tive technology), and confirm placental posi-
First-Trimester Maternal Serum Screening
tion. It improves gestational dating, which can
result in fewer inductions of labor for suspected Testing of maternal serum free beta human cho-
post maturity (Whitworth, Bricker, Neilson, rionic gonadotropin (free beta hCG) and preg-
& Dowswell, 2010). Early ultrasound (11–14 nancy-associated plasma protein A (PAPP-A) at
weeks’ gestation) can also measure the nuchal 10–14 weeks’ gestation, when used in combina-
translucency (the transparency of the fluid- tion with the first-trimester ultrasound, further
filled cavity at the nape of the fetus’s neck; informs the risk assessment. This combined
Sheppard & Platt, 2007; Sonek & Nicolaides, screening has been found to correctly identify
2010). Increased nuchal translucency, even in approximately 87% of fetuses with Down syn-
the absence of a chromosomal abnormality, is drome and has a less than 5% false-positive rate
associated with adverse outcomes including a (Anderson & Brown, 2009; Nicolaides, 2004).
greater incidence of congenital heart disease, In addition to identifying a fetus with Down
other fetal anomalies, and fetal death (Hafner, syndrome, extreme variations in the maternal
Schuller, Metzenbauer, Schuchter, & Philipp, serum free beta-hCG or PAPP-A can indicate
2003; Souka, von Kaisenberg, Hyett, Sonek, & an adverse pregnancy outcome, including low
Nicolaides, 2005). Therefore, increased nuchal birth weight, stillbirth, fetal loss, and early
translucency warrants a recommendation for delivery (Anderson & Brown, 2009).
further ultrasound studies and a fetal echocar- The finding of cell-free fetal DNA in
diogram later in the pregnancy. Other first- the plasma of pregnant women has opened
trimester ultrasound findings that may help up new possibilities for noninvasive prena-
detect Down syndrome include abnormal Dop- tal diagnosis. Fetal DNA can be detected in
pler flow in the ductus venosus and tricuspid a large background of maternal DNA (i.e., in
regurgitation; these are signs of congenital maternal plasma) based on fetal-specific DNA
heart disease commonly found with this dis- methylation patterns (see Chapter 1). Using
order. With improved technology, including these fetal epigenetic markers permits noninva-
three-dimensional ultrasound studies, other sive prenatal assessment of fetal chromosomal
Table 4.2. Common indications for amniocentesis (the detection of fetal movement by the
and chorionic villus sampling (CVS) mother). Using ultrasound guidance, a chori-
Indication CVS Amniocentesis onic villus biopsy is performed either by suc-
Maternal age 35 or older X X tion through a small catheter passed through
the cervix or by aspiration via a needle inserted
Previous offspring with X X
a chromosome
through the abdominal wall and uterus (Fig-
abnormality ure 4.2). CVS is considered the safest invasive
prenatal diagnostic procedure prior to the 14th
Increased risk to have a X X
child with a genetic week of gestation. There is less than a 1% risk
disorder (e.g., previous of procedure-related pregnancy loss when CVS
affected child, positive is performed by skilled practitioners. Provided
carrier testing, carrier CVS is performed after 10 weeks’ gestation,
of X-linked disorder)
there is no increased risk of causing a fetal
Previous offspring with X anomaly (Wapner, 2005).
a neural tube defect
(e.g., spina bifida,
anencephaly) Second Trimester
Increased nuchal trans- X X Maternal serum screening and ultrasonogra-
lucency and screen, phy are also offered in the second trimester.
positive first-trimester Magnetic resonance imaging (MRI) and fetal
maternal serum
screening echocardiography can add important informa-
tion in select circumstances at this point in the
Increased risk for having X
a child with a chromo-
pregnancy.
some abnormality or
neural tube defect Second-Trimester
based on a second Maternal Serum Screening
trimester maternal
serum screening test Approximately 70% of women in the United
Anatomic abnormality X X States currently have a maternal serum screen-
identified via ultrasound ing test and/or detailed ultrasound study per-
formed in the second semester to detect or
indicate an increased risk for common birth
abnormalities such as Down syndrome and cer- defects. Screening tests are designed to maxi-
tain pregnancy-associated disorders such as Rh mize the number of affected fetuses correctly
incompatability and single nucleotide variations identified while limiting the number of false-
(see Chapter 1). Initial research studies are positive results. Women 35 years of age and
promising, but further work needs to be done older are also offered diagnostic testing for
before this technique becomes widely available chromosome disorders. Although screening
for clinical use (Chiu & Lo, 2010; Hung, Chiu, sensitivity is improving, it is still not diagnos-
& Lo, 2009). tic. If screening results are abnormal, additional
studies are needed to confirm the diagnosis.
Chorionic Villus Sampling Typically a maternal blood specimen can
Chorionic villus sampling (CVS) involves be drawn at approximately 16 weeks’ gestation
obtaining a minute biopsy of the chorion, the and analyzed for AFP, hCG, and unconjugated
outermost membrane surrounding the embryo. serum estriol (uE3). A fourth marker, Inhibin
Chorionic villi, consisting of rapidly dividing A, has been added to improve the detection rate
cells of fetal origin, can be analyzed directly for Down syndrome in the second trimester
or grown in culture prior to testing (Blake- to 80%, with a 5% false-positive rate (Canick
more, 1988). CVS can be used for chromo- & Macrae, 2005). In combination with first-
some analysis, enzyme assay (for inborn errors trimester screening results, fully integrated
of metabolism; see Chapter 19), or molecular screening and stepwise sequential screening can
DNA analysis (identifying specific mutations increase the detection rate for Down syndrome
that cause genetic diseases). It is not, however, to about 95%, with a 5% false-positive rate
diagnostic for neural tube defects such as spina (Anderson & Brown, 2009; Malone et al., 2005).
bifida. Because not all women present themselves for
CVS is performed at approximately prenatal care in the first trimester, second-
10–12 weeks’ gestation, usually before a woman trimester screening is useful (Shamshirsaz,
appears pregnant and prior to “quickening” Benn, & Egan, 2010). The level of these serum
52 Schonberg
Figure 4.2. Transcervical CVS is performed at 10–12 weeks’ gestation. Guided by ultrasound, a hollow instrument is inserted
through the vagina and passed into the uterus. A small amount of chorionic tissue is removed by suction. The tissue is then
examined under a microscope to make sure it is sufficient. Karyotype, enzyme, and/or DNA analyses can be performed without
first growing the cells, although cell culture is needed for most analyses. Results are available in a few days in select situations;
more often they are ready in 10–14 days.
markers, combined with other indicators are recommended. It should be noted that cor-
including maternal age, weight, race, diabe- rect gestational age is important for an accurate
tes status, and number of fetuses, can also be interpretation of the screening results. Second-
used to assess the risk for neural tube defects trimester screening, with appropriate follow-
(e.g., spina bifida, anencephaly; see Chapter up, can lead to a diagnosis of an abnormal (or
25), abdominal wall defects (e.g., gastroschi- normal) outcome by 18–20 weeks’ gestation.
sis, omphalocele), and trisomy 18 syndrome Sequential screening using first- and second-tri-
(see Appendix B). As an example, increased lev- mester serum results is improving accuracy and
els of AFP suggest a fetus at risk for a neural influencing decisions about invasive testing.
tube defect, an abdominal wall defect, or a rare
kidney disorder. High AFP levels can also be Second-Trimester Ultrasonography
associated with a multiple gestation; gestational Approximately two thirds of pregnant women
age greater than anticipated; or a pregnancy at undergo real-time ultrasonography during
a higher risk for preterm delivery, stillbirth, or their pregnancy. Prenatal ultrasound studies at
intrauterine loss. Adverse pregnancy outcome 18–20 weeks’ gestation can identify more than
has also been associated with extreme variations 60% of fetuses with major structural anomalies.
of the other first- and second-trimester serum Once an abnormality is identified, other tech-
biochemical markers (Dugoff et al., 2004; nology, such as a fetal echocardiogram or MRI,
Gagnon et al., 2008). may be suggested to further delineate the diag-
If the maternal serum screen in the second nosis and contribute to management (Filkins
trimester suggests an increased risk for the pres- & Koos, 2005; Gagnon et al., 2009; Stewart,
ence of a fetus with Down syndrome, trisomy 2004). The absence of any abnormal marker on
18, or trisomy 13, diagnostic testing by amnio- a second-trimester scan can imply a 50%–80%
centesis and a detailed ultrasound evaluation reduction in the prior risk that was based on
maternal age or serum screen results (Benac- and other diagnostic testing complement each
erraf, 2005). Not only can imaging be used to other in making a diagnosis.
diagnose neural tube defects and abdominal
wall defects (screened for by second-trimester Amniocentesis
serum testing), it also can be used to diagnose Amniocentesis is traditionally performed at
facial clefts, renal anomalies, skeletal anomalies, approximately 15–18 weeks’ gestation. Under
hydrocephalus, heart defects, and other malfor- ultrasound guidance in a sterile field, a needle
mations. Although the identification of struc- is inserted just below the mother’s umbilicus
tural abnormalities by ultrasound is improving, and through the abdominal and uterine walls. It
it cannot replace definitive diagnostic testing enters the amniotic sac, and 1–2 ounces of amni-
for chromosomal abnormalities, genetic muta- otic fluid are aspirated (Figure 4.3). Through
tions, and biochemical analyses that are possible natural processes (mostly fetal urination), the
using amniocentesis or CVS. Often ultrasound fluid is replaced within 24 hours. The risk of
02.03REVISED/FIG.psd
Figure 4.3. Amniocentesis. Approximately 1–2 ounces of amniotic fluid is removed

at 16–18 weeks’ gestation. The sample is spun in a centrifuge to separate the fluid
from the fetal cells. The alpha-fetoprotein (AFP) in the fluid is measured to test for a
neural tube defect. When indicated, the fluid can also be used to check for metabo-
lites associated with inborn errors of metabolism. The cells are grown for a week, and
then a karyotype, enzyme, or DNA analyses can be performed. Most results are avail-
able in 10–14 days (Source: Rose & Mennuti, 1993).
54 Schonberg
pregnancy loss following a genetic amniocen- are unknown (De Wilde, Rivers, & Price,
tesis at 15+ weeks ranges from 0.5%–1.0% 2005). MRI of the central nervous system can
(Wilson, 2000). Early amniocentesis, per- demonstrate the presence (Figure 4.4A) or
formed before 14 weeks’ gestation, has been absence (Figure 4.4B) of the corpus callosum
found to cause an increased risk of pregnancy (i.e., the band of tissue connecting the two
loss, a higher incidence of musculoskeletal cerebral hemispheres), Chiari malformations
deformities (most often clubfoot), and a greater of the brain (the downward displacement of the
chance of amniotic fluid leakage. For this rea- cerebellum through the opening at the base of
son, CVS (not amniocentesis) continues to be the skull, which is seen in spina bifida), and the
the preferred procedure for first-trimester diag- cause of enlarged ventricles (hydrocephalus;
nosis (Wapner, 2005). Glenn & Berkovich, 2006). Alternatively, MRI
One advantage of amniocentesis is the can also confirm normal anatomy (as demon-
ability to assay the amniotic fluid directly for strated by the images of the corpus callosum in
abnormal levels of biochemical compounds, Figure 4.4A) when ultrasound has identified an
such as AFP. Although ultrasound evaluations increased risk of abnormality. Fetal MRI inter-
have improved in specificity and accuracy, they pretation requires special training, and centers
do not detect all cases of neural tube defects. that focus on fetal care and management often
However, when combined with an elevated have the most experienced radiologists available
amniotic fluid AFP level and a positive ace- to perform this task. Because it is not consid-
tylcholinesterase test, an abnormal ultrasound ered standard care, special authorization from
identifies virtually all neural tube defects (Rose insurance companies may be needed for this
& Mennutti, 1993). costly study.
Magnetic Resonance Imaging (MRI) Fetal Echocardiography

High-resolution ultrasound has revolution- Congenital heart disease (CHD) is the most
ized the identification of fetal anatomic abnor- common anatomical abnormality, contributing
malities, but this technology has limitations. to greater than one third of congenital anomaly
In selected circumstances, MRI can add to the deaths in childhood (Reddy et al., 2008). Echo-
clinical understanding of an ultrasound varia- cardiography has become a valuable tool in the
tion when used at approximately 17 weeks’ assessment of a fetus with CHD. This targeted
gestation or later (Bulas, 2007; Reddy, Filly, ultrasound is performed at 18–22 weeks’ gesta-
& Copel, 2008). Because MRI uses ultrafast tion, when the fetal heart is approximately the
imaging sequences, neither mother nor fetus size of an adult’s thumbnail. With fetal echocar-
requires sedation for a detailed study. Although diography, it is possible to evaluate the struc-
there have been no known risks associated with ture and function of the fetal heart and monitor
the use of MRI to date, the long-term effects fetal blood flow. Three- and four-dimensional
corpus
callosum skull
brain corpus callosum
absent
A B
Figure 4.4. A) Magnetic resonance imaging (MRI) of a fetal brain with a corpus callosum. B) MRI images of a
fetal brain with agenesis of the corpus callosum. (Courtesy of Dorothy I. Bulas, M.D., Department of Diagnostic
Imaging, Children’s National Medical Center, Washington, D.C.)
studies offer the opportunity for multiple views counseling and diagnostic testing via amniocen-
of normal and complex anatomy (Devore, tesis are warranted because the long-term out-
2005). A family history of CHD, increased come for a child with an isolated CHD can be
nuchal translucency in the first trimester (Haf- much different than the expected outcome for a
ner et al., 2003; Souka et al., 2005), maternal child with a chromosomal abnormality.
diabetes or lupus, a fetal diagnosis of Down
syndrome or velocardiofacial syndrome (VCFS; Diagnostic Testing of Fetal Cells
see Appendix B), or other birth defects noted by Both CVS and amniocentesis are well-estab-
ultrasound increase the likelihood that a con- lished techniques for obtaining fetal cells. The
genital heart defect will be identified. Because most common test requested is chromosomal
fetal circulation differs from that of the new- analysis; however, biochemical analysis for
born, coarctation (severe narrowing) of the inborn errors of metabolism or DNA analysis
aorta, interrupted aortic arch, and small atrial for disorders such as fragile X syndrome or cys-
or ventricular septal defects (ASD or VSD) may tic fibrosis also can be performed (Thompson,
not be accurately diagnosed using fetal echocar- McInnes, & Willard, 2004). Indeed, any genetic
diography. A careful cardiac evaluation should disorder for which a familial DNA mutation has
also be performed postnatally in infants known been identified can be assessed using DNA iso-
to be at increased risk for a CHD. Prenatal lated from the fetal cells. Studies other than
diagnosis of a CHD can result in earlier postna- traditional chromosome analysis are generally
tal diagnosis and earlier intervention (Mohan, only considered when a pregnancy is thought
Kleinman, & Kern, 2005; Reddy et al., 2008). to be at increased risk for a particular condition.
When CHD is identified in utero, a Fluorescent in situ hybridization (FISH) is
detailed ultrasound study is indicated to screen a technique that utilizes short pieces of DNA
for other malformations. Approximately 10%– of known sequence (called a DNA probe) that
15% of infants with CHD have an underlying can hybridize, or attach to, a unique region on
chromosomal abnormality and will often have a chromosome. The probe contains a fluores-
additional anomalies, developmental delay, or cent tag, making it visible under a fluorescent
intellectual disability (Table 4.3; Brown, 2000). microscope. FISH is used to identify specific
When a fetus is identified with CHD, genetic chromosomes or to indicate small deletions of a
defined region of a specific chromosome. When
a rapid result is required for prenatal diagnosis,
Table 4.3. Ultrasound findings in certain chromo- this technique can be used to test for trisomies
somal abnormalities 13, 18, and 21 and variations in the number of
Syndrome Findings X or Y chromosomes (Ward et al., 1993). In
Trisomy 13 Cleft lip and palate addition, FISH can be used to diagnose some
Congenital heart defect genetic syndromes caused by chromosome
Cystic kidneys microdeletions or variations that are too small
Polydactyly to be detected by conventional analysis. For
Midline facial defect example, the discovery of certain CHDs by fetal
Brain abnormalities (holoprosen- ultrasound or echocardiography should prompt
cephaly consideration of FISH analysis to detect the
Trisomy 18 Clenched hands with overlapping
22q11.2 deletion that occurs in 1 in 4,000 live
fingers births and is associated with VCFS/ DiGeorge
Congenital heart defect Syndrome (see Appendix B). Array comparative
Polyhydramnios genomic hybridization (CGH) is a newer tech-
Growth retardation nology allowing the evaluation of small, submi-
Rocker-bottom feet croscopic genomic deletions and duplications
Omphalocele that are responsible for approximately 15%
of unknown genetic disorders (see Chapter 1;
Trisomy 21 Gastrointestinal malformations
(duodenal atresia) Vissers, Veltman, van Kessel, & Brunner, 2005).
Congenital heart defect Advances in this technology have enabled high-
Excess neck skin/ increased nuchal resolution examination of genetic alterations
translucency that are not otherwise identifiable by tradi-
Absent nasal bone tional chromosome analysis. As the technology
Sources: D’Alton & DeCherney, 1993; Nicolaides, 2005;
improves, its application to prenatal diagnosis
and Viora et al., 2005. and assisted reproductive technology (ART)
56 Schonberg
will expand. CGH should be considered when at risk of having a child with microcephaly and
multiple anomalies are identified via ultrasound intellectual disability if she does not maintain a
and conventional chromosomal analysis is nor- phenylalanine-restricted diet during pregnancy
mal (American College of Obstetricians and (see Chapter 19). If not under good control,
Gynecologists, 2009b; Kleeman et al., 2009). other maternal disorders, including diabetes
As technology improves, the indications and lupus, increase the risk to the fetus. In addi-
for prenatal diagnosis will increase and detection, certain medications taken to control ill-
tion may be improved. Unfortunately, even the ness, such as anti-epileptic drugs, can increase
most sophisticated prenatal diagnostic technol- the risk of birth defects. Ideally, the risks versus
ogy cannot guarantee the birth of a “normal” benefits of chronic medication use during preg-
child. Most of the disorders that cause develop- nancy will be discussed between the patient and
mental disabilities in the absence of structural her care provider prior to conception.
malformations are not currently amenable to
prenatal diagnosis. Prenatal testing, however, Assisted Reproduction Technology
has offered some parents at high risk for hav- When a couple has an increased risk of hav-
ing a child with a severe genetic disorder the ing a child with a serious genetic disorder and
opportunity to have healthy children. For other they prefer not to face the possibility of termi-
families, it provides time to prepare for imme- nating an affected pregnancy, other reproduc-
diate surgical or medical intervention following tive options may be available utilizing assisted
a timed delivery, or it provides time to plan for reproductive technology (ART). Mendelian
end-of-life care for a child who may not survive genetic disorders may be inherited as autosomal
because of the severity of the birth defect. recessive (with two carrier parents), X-linked
recessive (with a carrier mother), or autosomal
Prevention and Alternative dominant (with one parent being affected; see
Chapter 1). A parent may also be known to be
Reproductive Choices
a carrier of a balanced chromosome transloca-
Although birth defects cannot be prevented, tion and be at risk to have a child with an unbal-
attention to a number of factors can contribute anced amount of genetic material. Options such
to a decreased risk for certain fetal abnormali- as artificial insemination using donor sperm
ties. Recommendations such as receiving early or in vitro fertilization (IVF) with a donor
prenatal care, avoiding alcoholic beverages and egg may be appropriate considerations under
tobacco, and minimizing unnecessary medica- these circumstances. Couples considering these
tion are familiar to most women. In addition, options should assess how donors are chosen:
women should try to avoid exposure to infec- what carrier testing is performed to make sure
tion, excess vitamin A, and frequent consump- the donor is not a carrier for an identifiable
tion of fish that are known to have elevated genetic disease, the ethnic/racial background of
mercury content (American College of Obste- the donor, and the donor’s family history. When
tricians and Gynecologists, 2009a). considering ART, families should also inquire
In addition, ingestion of 0.4 mg of folic about the rate of successful pregnancies, the
acid (found in most multivitamins) by all women risk for multiple gestation (e.g., twins, triplets),
of childbearing age starting 3 months before and the increased risk of birth defects (Hansen,
attempted conception is now recommended in Bower, Milne, de Klerk, & Kurinczuk, 2005;
order to reduce the risk of neural tube defects. Shiota & Yamada, 2009; Wen et al., 2010). The
If a neural tube defect is detected, in utero repair use of proteomics (methodology for measuring
of a myelomeningocele should be considered proteins) may assist in identifying embryos with
based on results of a randomized trial that dem- the highest implantation potential, thus avoid-
onstrated a reduced risk of the child developing ing further complications from multiple gesta-
hydrocephalus and an increased likelihood of tion. Evaluating the secretome, the proteins the
future independent ambulation. Because there embryo produces and secretes into the envi-
can be maternal morbidity from this procedure, ronment, may provide these clues (Katz-Jaffe,
the benefits versus risks must be carefully evalu- McReynolds, Gardner, & Schoolcraft, 2009).
ated (Adzick et al., 2011). Another ART approach is intracytoplas-
If not treated appropriately, a number of mic sperm injection (ICSI), a technology avail-
maternal conditions can predispose an infant to able to infertile males who have low sperm
birth defects or developmental delay. For exam- count or poor sperm motility (Palermo et al.,
ple, a woman with phenylketonuria (PKU) is 1998). Sperm from the prospective father are
harvested, and the cytoplasmic portions of the or common trisomies (Verlinsky et al., 2004).
sperm are removed. The nucleus of the sperm However, diagnosis from a single cell remains
is then introduced into a harvested egg by a technical challenge and the risk of misdiag-
microinjection, and the developing blastocyst nosis cannot be eliminated (Wilton, Thorn-
(early embryo) is subsequently transferred into hill, Traeger-Synodinos, Sermon, & Harper,
the uterus. Genetic causes of male infertility, 2009). Therefore, prenatal diagnosis via CVS
including microdeletion within fertility-asso- or amniocentesis is recommended after PGD is
ciated regions of the Y chromosome, carri- done to confirm the diagnosis.
ers for certain cystic fibrosis mutations, and ARTs are costly in terms of physical, emo-
Klinefelter syndrome, may be indications for tional, and financial resources; at present these
ICSI. For approximately 1% of conceptions services are rarely covered by health insur-
accomplished through ICSI, sex chromosome ance plans. The risk of multiple gestations is
aneuploidy (e.g., an extra X or Y chromosome) also a concern, particularly if fetal reduction
has been reported. In addition there is a 6.5% (i.e., abortion of one or more fetuses) is not
malformation rate secondary to the proce- an option the parents are willing to consider.
dure; therefore, genetic counseling is recom- Publications from Europe, the United States,
mended prior to initiating ICSI (Hindryckx et and Australia have suggested an association
al., 2010). between ART and imprinting (epigenetic)
disorders such as Beckwith Weidemann Syn-
Preimplantation Genetic Diagnosis drome (Chapter 1; Appendix B). However,
Preimplantation genetic diagnosis (PGD) is because the absolute incidence is small, rou-
available for couples who are at high risk of tine screening for these imprinting disorders
having a child with a known genetic disorder, in children conceived by ART is not recom-
who wish to conceive an unaffected child that mended at this time (Manipalviratn, DeCher-
is biologically their own, and who want to avoid ney, & Segars, 2009). As with IVF, couples
the risk of pregnancy termination. Originally should request detailed information regarding
introduced in 1990 for couples at risk of hav- techniques that are used, risk of error in diag-
ing a child with an X-linked disorder, PGD nosis, risk of other anomalies of birth defects,
has expanded with the development of FISH cost per attempt, rate of successful pregnan-
technology to identify common trisomies (13, cies, and risk of multiple gestations.
18, and 21) in women of advanced age (Kuliev
& Verlinsky, 2004) and with the development
Psychosocial Implications
of molecular technology to identify DNA
sequence differences (i.e., single gene muta- With advances in prenatal screening technol-
tions). ogy and testing, choices can be overwhelm-
There are two approaches to PGD, as ing for a family. Health care professionals and
illustrated in Figure 4.5. The first involves patients often avoid difficult preliminary discus-
polar body testing of the woman’s eggs to sions about how a couple would respond to the
establish the presence or absence of the muta- diagnosis of an abnormality or (if they already
tion in question (e.g., looking for the Tay Sachs have a child with special needs) how they would
gene in a couple who are both carriers of this respond to a recurrence of the problem in their
disorder). Only embryos from fertilized eggs next child. For some couples, having advanced
determined to contain the normal gene are knowledge allows for preparation prior to birth;
transferred to the mother’s uterus to establish a for others, it may mean ending a pregnancy.
pregnancy. The second approach is to perform Many of these issues are best addressed
in vitro fertilization on harvested eggs and allow prior to attempting pregnancy so that prena-
them to develop in culture to the blastomere, tal diagnostic techniques, genetic screening,
or eight-cell stage. A single cell is then micro- and other specialized tests can be investigated
dissected from each blastomere and analyzed in advance. Exploring each individual’s repro-
for the presence of mutations or aneuploidy ductive choices and available options is time
(abnormal chromosome number). Only unaf- consuming, but necessary. It is imperative that
fected embryos are subsequently transferred to health care professionals focus on the family’s
the uterus. Approximately 20% of implanted psychosocial needs as well as the clinical infor-
embryos will survive to birth. mation the couple is requesting.
Pregnancies utilizing these methods have When a woman gives birth to a child
been successful for couples at high risk for bear- with special needs or a child who does not
ing a child with a number of genetic disorders survive, the experience can be devastating for
02.06/FIG.psd
58 Schonberg
Figure 4.5. Preimplantation genetic diagnosis (PGD). Individuals who undergo PGD begin the process as they
would for in vitro fertilization. The ovary is stimulated to produce mature oocytes, which are then harvested for
fertilization outside of the woman’s body. These mature oocytes can be used for polar body analysis or they can be
fertilized and processed for a blastomere biopsy. This figure describes the path toward the preimplantation diagno-
sis using both methods. Polar body analysis is limited to those disorders or variations that would be present in the
maternal genetic material whereas an embryo biopsy can analyze both maternal and paternal genetic contributions.
As with in vitro fertilization, not all pregnancies will progress to term. Prenatal diagnosis at a later stage of gestation
via chorionic villus sampling (CVS) or amniocentesis is recommended to confirm the preimplantation diagnosis.
the family. Each family is unique, and assump- Summary

tions by health care providers as to what a fam-
ily should or should not do in a given situation A wealth of information exists for couples con-
must be avoided. Genetic counselors and medi- sidering a pregnancy. This is particularly true
cal geneticists, who are trained in nondirective for couples who have an increased risk for con-
counseling, can help families understand their ceiving a child with a specific genetic disorder
options and choose a course of action that is or who have previously conceived a child with a
consistent with the family’s own values and birth defect, special needs, or genetic disorder.
resources. Often, support groups or individual The array of screening and diagnostic tests can
counseling can be beneficial. be both overwhelming and reassuring. Health
care providers, working together with genetics fetus. Progress in Biophysics and Molecular Biology, 87,
professionals, are in a unique position to help 335–353.
Dugoff, L., Hobbins, J., Malone, F., Porter, T.F., Luthy,
families carefully consider and understand their D., Comstock, C.H., … D’Alton, M.E. (2004). First-
reproductive options and the effects that prena- trimester maternal serum papp-a and free-beta sub-
tal diagnosis or genetic screening will have on unit human chorionic gonadotropin concentrations
them physically, emotionally, and financially. and nuchal translucency are associated with obstetric
complications: A population-based screening study
(the faster trial). American Journal of Obstetrics and
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Medicine, 30(3), 573–592.
5 Newborn Screening
Opportunities for Prevention
of Developmental Disabilities
Joan E. Pellegrino
Upon completion of the chapter the reader will

■ Understand the rationale for newborn screening
■ Understand the difference between a screening test and diagnostic test
■ Be familiar with the types of screening tests available
■ Understand the limitations and pitfalls of screening
The birth of a new baby is a joyous time, but a telephone call four days later that Ashley had
for some families, a shadow is cast on their first screened positive for medium chain acyl-CoA-
hopes by the worrisome results of a newborn dehydrogenase deficiency (MCAD). They did
screening test. The baby’s mother will have not know what this disease was, and they did not
undergone a number of screening procedures understand why Ashley should screen positive for
during the pregnancy (see Chapter 4), but she an “inherited” condition when they already had
may be unaware that her newborn infant will
a healthy 2-year-old daughter at home. Denise
also have several screening tests performed.
did recall reading that her state had expanded
This chapter describes the rationale for new-
born screening, summarizes the types of dis- newborn screening, but she was unsure what this
orders for which screening is conducted, and meant. Ashley was seen by her pediatrician and
reviews the methods for assuring proper follow underwent diagnostic testing for MCAD. The
up on the results of newborn screening. diagnosis was confirmed, and Ashley was treated
with a frequent, regular feeding schedule. Her
■ ■ ■ ASHLEY sister had not been tested for MCAD, as this test
Denise, a 32-year-old healthy woman, was preg- was not part of the newborn screen in her state
nant with her second child. The pregnancy was at the time of her birth. She was subsequently
uncomplicated. She had a normal maternal tested and found to be affected as well.
serum screening test in the second trimester
and normal prenatal ultrasounds. The delivery
was uncomplicated, and she and her daughter,
What is a Screening Test?
Ashley, were discharged home from the hospi- A screening test, as the name implies, is a test
tal when Ashley was 3 days old. Ashley’s parents designed to screen for, but not definitively diag-
were therefore upset and confused to receive nose, a particular condition. When applied to a
61
62 Pellegrino
group of individuals, a screening test separates must undergo diagnostic testing. A diagnostic
those who are at risk for a condition from those test is designed to definitively confirm or
who are not. The ideal screening test would exclude the presence of a disease or condition
perform this operation with perfect accuracy; in a particular individual. Diagnostic tests, in
but in reality, all screening tests produce false- theory, should produce no false-positive or
positive results (unaffected individuals identi- false-negative results, so they would actually
fied as being at risk), and some screening tests represent the ideal “screening test.” In practice,
produce false-negative results (affected indi- diagnostic tests are generally either too cum-
viduals identified as not being at risk). Because bersome or too expensive to perform on large
the goal of newborn screening is to identify all numbers of individuals, hence the need for
truly affected individuals, interpretive methods screening tests.
and screening algorithms are devised to elimi-
nate false-negative results while still trying to
Why Screen Newborns?
minimize false positives. In some cases, this is
accomplished by setting a numerical cut-off Of the hundreds of diseases and conditions
for a test that favors the identification of truly that may potentially affect infants and young
affected individuals, at the expense of over- children, a limited number are appropriate for
identifying some unaffected individuals as being inclusion in a newborn screening program. In
at risk for the tested condition (Figure 5.1). the United States, the number of conditions
Because any particular condition tested for by tested for varies widely among the individual
newborn screening is relatively rare, the num- states. Due to this variability, the American
ber of individuals affected by that condition will College of Medical Genetics completed a
be much smaller than the number of unaffected report commissioned by the Health Resources
individuals. Depending on the technology used, and Services Administration (HRSA) that rec-
this means that the majority of positive screens ommended universal screening for 29 specific
may turn out to be false positives. For some core conditions (the uniform panel) and 25 spe-
conditions, retesting a child using the same cific secondary conditions (Newborn Screen-
or alternative screening tests will improve the ing Expert Group, 2005). In general terms, the
screening process; but ultimately, a final group conditions screened for are serious, identifiable,
of individuals with positive-screening results and treatable. In this context, being “treatable”
Affected
individuals
10
Definitely
affected
8
Screening test Cut-off "B"
results (units) 6 Uncertain
Cut-off "A"
4 Definitely
not affected
2
Unaffected
individuals
Figure 5.1. Setting a cut-off level for a screening test. In this example, a hypothetical screening test is applied with the ultimate
goal of identifying individuals who are affected by a particular disease or condition. Individuals who ultimately prove to be
unaffected show test results from 0 to 7 units; individuals who prove to be affected show test results ranging from 5 to 11 units.
Individuals with test results above 7 or below 5 will be definitely identified by the screen as be affected or unaffected; individuals
testing between 5 and 7 may or may not be affected. If cut-off “A” is selected, all affected individuals will be correctly identi-
fied, but some unaffected individuals will be incorrectly identified as having disease (false positives). Because the number of
unaffected individuals is so much larger than the number with disease, the majority of individuals testing positive will turn out to
be unaffected. If cut-off “B” is selected, all unaffected individuals will be correctly identified, but some individuals with disease
will be missed (false negatives). Selecting a cut-off level between “A” and “B” will result in a mix of false positives and false
negatives.
Newborn Screening 63
does not necessarily mean that the condition indicates that the mother is infected, and the
is curable; it means that interventions should newborn needs to be followed for the increased
result in significant amelioration of the expected risk of disease. The goal of treatment for
consequences of that condition. The types of affected newborns with HIV is long-term sup-
diseases and disorders usually screened for fall pression of viral replication in order to prevent
into the following categories: endocrine disor- clinical symptoms of acquired immunodefi-
ders, lung disorders, blood disorders, infectious ciency virus (AIDS) and preserve the immune
diseases, immune disorders, and metabolic dis- system. Guidelines for treatment are avail-
orders. In addition, hearing loss is screened for able (see http://www.hivatis.org). All pregnant
in the newborn period (Choo & Meinzen-Derr, women are offered HIV screening prenatally so
2010; Wolff et al., 2010; see Chapter 10). that they can start treatment and reduce the risk
This chapter focuses on medical condi- of transmission to the fetus. Untreated congen-
tions that can be identified by newborn screen- ital toxoplasmosis results in multisystem dis-
ing and that place the child at significant risk ease including neurologic complications such
for developmental disabilities. It should be as seizures, visual impairments, and intellectual
noted, however, that screenings are conducted disability. The incidence of congenital toxo-
in the newborn period for additional condi- plasmosis ranges from 1 in 1,000 to 1 in 8,000
tions that carry significant medical and related live births. Newborns identified through new-
emotional issues (i.e., congenital adrenal hyper- born screening require treatment with medi-
plasia; White, 2009), cystic fibrosis (South- cation to reduce the incidence of the sequelae
ern, Mérelle, Dankert-Roelse, & Nagelkerke, (Röser, Nielsen, Petersen, Saugmann-Jensen,
2009), and sickle cell anemia/hemoglobinopa- & Nørgaard-Pedersen, 2010).
thies (Benson & Therrell, 2010). Screening
also occurs prenatally based on family history, Immune Disorders
ethnicity, and routine maternal serum screening Severe Combined Immunodeficiency (SCID) is
with ultrasound (see Chapter 4). a group of disorders that leads to early child-
hood death as a result of severe infections (Puck,
Endocrine Disorders 2007). SCID is known as the “bubble boy” dis-
The endocrine system produces and regu- ease because affected children used to be placed
lates a variety of hormones that are critical to in a protected environment to reduce the risk of
maintaining the body in a normal and balanced infection. The Secretary’s Advisory Committee
physiological state, called homeostasis. Sev- on Heritable Disorders in Newborns and Chil-
eral specific hormones are critical to the early dren recently recommended adding this group
growth and development of the central nervous of diseases to the 29 others in the core panel (see
system. Congenital hypothyroidism is a condi- http://www.hrsa.gov/heritabledisorderscom
tion in which the newborn produces inadequate mittee). Currently, three states have added this
thyroid hormone; 1 in 3,000 infants is born with to their newborn screening panels. Children
the condition, making it relatively common receiving early diagnosis can benefit from stem
compared with other disorders screened for in cell transplants (Lipstein, Vorono, et al., 2010).
the newborn period. Early identification of this
condition allows for early treatment with thy- Metabolic Disorders
roid hormone replacement. Untreated infants Metabolic disorders, also known as inborn
have severe growth problems and abnormal errors of metabolism, represent a diverse group
brain development, resulting in serious lifelong of genetic conditions that manifest as abnor-
cognitive disability (Fingerhut & Olgemöller, malities of body chemistry at the cellular level
2009; Pass, 2009). (see Chapter 19). These conditions are often
associated with the accumulation of abnormal
Infectious Diseases substances, or metabolites, in body fluids and
Currently, three states screen for human immu- tissues as a consequence of abnormal func-
nodeficiency virus (HIV), and another two tioning of proteins known as enzymes. Phe-
screen for Toxoplasmosis gondii. These are nylketonuria (PKU) is a classic example of a
potentially serious infections in newborns. A screenable metabolic condition. In the United
positive screen for either of these organisms States, the incidence of PKU is 1 in 10,000,
would require consultation with an infectious with an increased incidence in Caucasians of
disease specialist for confirmation and treat- European decent. The disorder belongs to a
ment. A positive HIV screen in the newborn group of metabolic conditions known as amino
64 Pellegrino
acid disorders. In PKU, a genetic mutation in blood and body tissues, with particularly
results in the deficiency of an enzyme needed to severe consequences for the developing central
process phenylalanine, an amino acid common nervous system.
to most protein-laden foods, including meat Another relatively common metabolic
and dairy products. Early identification of PKU disorder (with an incidence of 1 in 15,000) is
by newborn screening allows implementation MCAD, the disorder that Ashley, our case study
of a protein-restricted diet. The lack of treat- in the beginning of the chapter, has. This dis-
ment results in accumulation of phenylalanine order is the most common example of a group
Table 5.1. Metabolic disorders detectable in newborns by tandem mass spectroscopy

Type of disorder Specific disorder
Amino acid disorders 5-oxoprolinuria
Argininemia
Argininosuccinate lyase deficiency (ASL)
Citrullinemia
Citrullinemia II
Defects of biopterin cofactor biosynthesis
Defects of biopterin cofactor regeneration
Homocystinuria
Hyperammonemia, hyperornithinemia, homocitrullinemia (HHH)
Hypermethioninemia
Maple syrup urine disease (MSUD)
Nonketotic hyperglycinemia
Phenylketonuria (PKU)
Tyrosinemia type I, II, and III
Organic acid disorders 2-methyl-3-hydroxybutyryl CoA dehydrogenase (2M3HBA)
2-methylbutyrl CoA dehydrogenase deficiency (2MBG)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
3-methylglutaconyl-CoA hydratase deficiency (3MGA)
Beta-ketothiolase deficiency (BKT)
Glutaric acidemia type 1 (GA1)
Isobutyryl-CoA dehydrogenase deficiency (IBG)
Isovaleric acidemia (IVA)
Malonic aciduria (MAL)
Methylmalonic acidemia–Cbl A, B
Methylmalonic acidemia–Cbl C, D
Methylmalonic acidemia–mutase deficiency (MUT)
Multiple carboxylase deficiency (MCD)
Propionic acidemia (PA)
Fatty acid oxidation disorders 2,4, dienoyl-CoA reductase deficiency (DE RED)
3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD)
Carnitine palmitoyltransferase I and II (CPT I and II)
Carnitine uptake defects (CUD)
Carnitine/acylcarnitine translocase deficiency (CACT)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
Medium chain ketoacyl-CoA thiolase deficiency (MCKAT)
Medium/short chain hydroxy Acyl-CoA dehydrogenase deficiency (M/SCHAD)
Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia Type II)
Short chain Acyl-CoA dehydrogenase deficiency (SCAD)
Trifunctional protein deficiency (TFP)
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
of metabolic conditions called fatty acid oxi- different types of metabolites can be obtained
dation disorders (Kompare & Rizzo, 2008; at once (Chace, DiPerna, & Naylor, 1999).
Leonard & Dezateux, 2009). Normally, the This is a very rapid and sensitive method for
body processes fat in order to release energy mass screening because a single sample can be
through oxidation. This is especially important screened in 1–2 minutes for numerous disorders
during periods of fasting, when fat becomes the (Table 5.1; Chace, Kalas, & Naylor, 2003). This
main source of energy for the body. Children technology can also improve the detection rate
with MCAD may become seriously ill after a (lower the number of false positives) for other
period of fasting and may suffer permanent diseases such as PKU (Chace, Sherwin, Hill-
brain damage as a consequence. Careful moni- man, Lorey, & Cunningham, 1998; Marsden,
toring and frequent feedings are essential, espe- Larson, & Levy, 2006). It is important to note
cially during infancy. Several other categories that not all of the currently mandated disorders
of metabolic disease, including organic acid dis- can be screened in this way, so other methods
orders (e.g., organic acidemias), disorders of will continue to be needed (Table 5.2).
carbohydrate metabolism (e.g., galactosemia), The use of tandem mass spectroscopy has
and several miscellaneous enzyme deficiencies increased the number of diagnoses of inborn
(e.g., biotinidase deficiency) are amenable errors of metabolism. In one study, the detec-
to dietary intervention or to specific medical tion rate using this method to screen for 12
treatments. As a group, the metabolic disorders diseases (excluding PKU) was 10.6 in 100,000
now represent the largest number of poten- (Waisbren et al., 2003). Among this group, 40%
tially treatable conditions that can be identified of infants had MCAD. In another study the
through newborn screening and are the primary detection rate was increased from the previous
targets of the newest screening technologies. rate of 9 in 100,000 births to 15.7 in 100,000
births over a 4-year period when 31 diseases
(again excluding PKU) were screened for using
How is Newborn MS/MS (Wilcken, Wiley, Hammond, & Car-
Screening Done? penter, 2003). In this study, the most commonly
Most newborn screening tests rely on blood diagnosed disorder was again MCAD.
samples obtained during the first few days after Many states have second-tier testing once
birth (Fernhoff, 2009; Hiraki & Green, 2010; the initial biochemical test is abnormal. This
Levy, 2010). Testing begins by collecting a typically involves genetic testing (testing of
blood sample from a heel prick and blotting the DNA of the infant). Second-tier testing
this onto a special filter-paper collection device. is usually performed by the same laboratory
The sample is collected before the newborn is that performed the initial screen and occurs
discharged from the birthing facility but after automatically as part of the screening algo-
the infant has had an opportunity to feed, ideally rithm. Under this method, a sample is tested
at least 24 hours after birth. The infant must eat and flagged as abnormal relative to an expected
first because certain metabolic disorders can- range for the test. The sample is then sent for
not be detected until the body is challenged to a second-tier test that aids in the interpretation
metabolize the substances present in breast milk
or formula. The filter paper is dried and sent to Table 5.2. Disorders detected in newborns by
a newborn screening laboratory. The specimen technologies other than tandem mass spectroscopy
is then divided into multiple samples for use in Arginase deficiency
a variety of tests looking for specific diseases. Biotinidase deficiency
In the past, a different test was required for Congenital adrenal hyperplasia
each disease. With the advent of tandem mass Congenital hypothyroidism
spectroscopy, the number of tests that can be Congenital toxoplasmosis
run on one sample has increased exponentially. Cystic fibrosis
The mass spectrometer is a device that Galactokinase deficiency
separates and quantifies ions based on their Galactose epimerase deficiency
mass-to-charge ratio (American College of Galactose-1-phosphate uridyltransferase deficiency
Medical Genetics & American Society of Glucose-6-phosphate dehydrogenase deficiency
Human Genetics, 2000). The tandem mass Hemoglobinopathies: S/S; S/C; S/ßTh variants
spectrometer (MS/MS) consists of two of Human immunodeficiency virus (HIV)
these devices separated by a reaction cham- Hearing loss
ber such that accurate measurements of many
66 Pellegrino
of the initial screening result. Only abnormal score higher on measures of parent–child dys-
samples have second-tier tests. For example, a function. Having the child seen through a spe-
specimen might be abnormal for immunoreac- cialty center (e.g., a metabolic disorders clinic
tive trypsinogen (IRT), a test for cystic fibrosis. at an academic medical center) or communicat-
That sample is then tested for some of the more ing repeat screening results in person seems to
common DNA mutations associated with cystic improve this situation (Waisbren et al., 2003).
fibrosis. If two mutations are found, the sam- On the one hand, it is important for families
ple may be coded as positive. If no mutation, to understand that a positive newborn screen
or only one mutation, is found then the sample does not automatically mean that their infant
may be coded as negative or positive depend- has a problem. On the other hand, it is obvi-
ing on the level of IRT. By adding second-tier ously important that appropriate follow-up is
DNA testing for multiple mutations, the sensi- pursued in a timely fashion to allow identifica-
tivity of the test is increased, but an increased tion of truly affected infants.
number of carriers (individuals with a single When a child screens positive for a par-
copy of the mutated gene who do not have cys- ticular disorder, follow-up testing methods and
tic fibrosis) are also identified, creating another algorithms will differ depending on the charac-
layer of complexity from a genetic counseling teristics of the specific disorder and the methods
perspective (Comeau et al., 2004). used for the initial screen. The American Col-
lege of Medical Genetics has developed ACT
SHEETS and confirmatory algorithms for the
What Should Be 29 core conditions and many of the secondary
Done When a Child Has targets as well. These are available on their web
a Positive Newborn Screen? site (http://www.acmg.net).
In practice, each state decides how to handle
positive screening results and how to follow up. What Happens
In general, there should be prompt notification to Children with
of the physician of record (usually the primary
Confirmed Disease?
care pediatrician or family practitioner) and the
infant’s family. Treatment should be initiated Infants with a positive newborn screen are often
if appropriate, and the infant should be evalu- referred to a center where they can be seen by
ated further. Definitive testing should confirm a physician who has expertise in the condition
the diagnosis. If the diagnosis is confirmed, a for which positive screening occurred (James
treatment plan specific to that disorder should & Levy, 2006). This may be a hematologist, a
be initiated. The family is typically referred to pulmonologist, an endocrinologist, or a geneti-
a specialty consultant or program, and genetic cist. In some states, families may have access
counseling is offered. Some of the conditions to multidisciplinary programs that include
screened require urgent evaluation, such as the nurses, genetic counselors, social workers, and
organic acidemias, carbohydrate and urea cycle nutritionists in addition to specialty physicians.
disorders, and the immune and endocrine dis- Additional testing is then obtained to confirm
eases. All interventions require close collabora- the specific diagnosis or to aid in genetic coun-
tion with the specialist, primary care physician, seling. Once the diagnosis is established, the
public health department, and the families. child will require ongoing (and often lifelong)
Even when follow-up on a positive new- care for that condition. The specific interven-
born screen operates efficiently and effectively, tions employed will depend on the diagnosis
families may still experience significant stress obtained (e.g., see Chapter 19). In general,
related to the process. As previously mentioned, the goal is to provide long-term therapy for
many positive screens turn out to be false posi- the child and ongoing counseling to the fam-
tives. In many conditions, for every 10 infants ily, with the ultimate goal of improving medi-
with a positive screen, only 1 will be found to cal, neurodevelopmental, and psychosocial
have the disease. Even though these other 9 outcomes. Some disorders are relatively easy
children will ultimately prove to be without to manage with medications or supplements
disease, the process leading to this conclusion (e.g., thyroid hormone replacement therapy for
can be difficult for families. Mothers of false- congenital hypothyroidism, or biotin therapy
positive infants have been found to have signifi- [a B vitamin] for biotinidase deficiency). Other
cantly increased stress level scores compared to disorders are more complex and may require a
mothers of screen-negative infants, and they combination of medications, supplements, and
dietary changes. For example, the treatment of impairment) who had a true-positive new-
PKU requires protein restriction and replace- born screen revealed that only 3 of 147 infants
ment of normal food items with synthetic, non- showed signs of these disorders (Van Naarden
phenylalanine-containing substitutes. This is Braun, Yeargin-Allsopp, Schendel, & Fernhoff,
usually achieved using special formulas in chil- 2003). Two of the infants had maple syrup urine
dren or supplemental nutrition bars in adults. disease (MSUD) and one had galactosemia. All
Although this sounds quite simple, it is for most three children had intellectual disability that
individuals and families a very burdensome diet was attributable to their metabolic disorder.
and is complicated by the fact that these special- However, when this study was expanded to
ized foods are costly and may not be covered by look for children with positive newborn screen
medical insurance. who were receiving special education services,
Because most of these disorders are genetic, there were 9 children out of 216 who had a less
genetic testing may be recommended to con- severe form of developmental disability (devel-
firm the diagnosis or to provide additional prog- opmental delay, speech-language impairment,
nostic information. Once a specific mutation is learning disability). Seven children had a form
identified, prenatal diagnosis may be available of galactosemia, and two had congenital hypo-
in the next pregnancy, if the family chooses to thyroidism. One child with classic galactosemia
pursue this. Recurrence risk (risk that another had developmental delays, another child had a
child will be born with the same condition in specific learning disability, and the remaining
the future) is an appropriate concern. Because seven had speech-language impairments. In the
most metabolic disorders are inherited as an Waisbren study (2003), the children identified
autosomal recessive trait (see Chapter 1), the by newborn screening had fewer developmental
statistical risk of recurrence is 25%. By com- and health problems and functioned better (as
parison, an individual actually diagnosed with evidenced by developmental testing) compared
a metabolic disorder is at much lower risk for with those children diagnosed at a later age
having a child with the same condition. There based on clinical symptoms. The children iden-
are additional issues to consider, however, when tified through screening had fewer hospitaliza-
a woman with a metabolic disorder becomes tions, shorter hospital stays, and 60% fewer
pregnant: Her disease may have an impact on medical problems, and they scored significantly
the developing fetus, even though the fetus higher on developmental testing. Despite the
does not have the disease (e.g., see description positive outlook in these studies, many of these
of maternal PKU in Chapter 19). Although diseases are still associated with severe develop-
the teratogenic effects of phenylalanine on the mental disabilities (Dhondt, 2010).
fetus have been well described, this is not the
case for many other metabolic disorders. With
increasing numbers of individuals being identi- How Can Screening Fail?
fied with severe metabolic disorders earlier and
treated sooner, it is expected that more affected There are a number of steps during which new-
women will survive into childbearing age and born screening can fail. It is important to keep
the effects of these disorders on the developing in mind that a newborn may not have been
fetus will be further elucidated. screened at the hospital. Many states allow for
exemptions from newborn screening based on
religious or other reasons. Other possibilities
What is the Risk are that the newborn may have been born at
of Developmental home, the newborn may have been transferred
Disability in Children to another hospital, or the specimen could have
been lost or misidentified. There are also rea-
with Confirmed Disease?
sons why an infant could screen negative but
The neurodevelopmental and functional still have a disease (i.e., a false-negative result).
sequelae of a particular disorder identified For example, it is possible that the specimen
through newborn screening is specific to that was obtained at the wrong time. As previously
disorder. A few studies have addressed the issue noted, for some of the metabolic disorders,
of developmental outcomes in children who the infant needs to be at least 24 hours old and
have an underlying metabolic disorder. A popu- must have been fed an adequate amount of
lation-based surveillance study of children with formula or breast milk before a screening test
severe developmental disabilities (intellectual can be valid. If the infant has not eaten, then
disability, cerebral palsy, hearing loss, and vision the metabolites for some of the diseases will
68 Pellegrino
not accumulate and the test will yield a false- was developed to screen for congenital hypo-
negative result. For some disorders, the test is thyroidism (Dussault et al., 1975; LaFranchi,
not accurate if the infant has had a blood trans- 2010). The success of newborn screening for
fusion. Things as simple as how much blood is this disorder led to the addition of testing for
collected, how long the sample is dried, how an increasing number of disorders. Each year
long it took to get to the lab, and even the more than 4 million babies are screened in the
weather conditions during shipment can result United States for a variety of disorders, and
in inaccurate test results. In addition, infants are approximately 6,000 infants are diagnosed with
sometimes “lost” to follow-up. It may be dif- a detectable and treatable disorder (National
ficult to actually locate a specific infant due to Newborn Screening and Genetics Resource
a name change for the baby, family relocations, Center, 2010; for more information see http://
inadequate information provided with the sam- HRSA.gov/heritabledisorderscommittee).
ple (e.g., wrong address or telephone number), Each state decides which disorders will be
or a new physician of record. screened for, but the majority of states are pro-
Newborn screening can be particularly viding universal screening for the 29 core con-
challenging in infants who are born prema- ditions (see Table 5.3). While the majority of
turely. False-positive rates (FPRs) increase states have mandatory screening (i.e., all infants
with decreasing birth weight and gestation must be screened), some have voluntary screen-
age and are significantly increased in very low ing (i.e., parents may choose whether their
birth weight neonates (<1000g) and infants <32 child is screened). Some states require written
weeks gestational age. The majority of false- informed consent; others have an implied con-
positive screens in this population are for endo- sent, but require written informed dissent (i.e.,
crine disorders. Strategies to decrease the FPRs the parents must sign if they choose not to par-
may include waiting for >48 hours to obtain ticipate). Some states have a single designated
the first sample in infants <32 weeks gestation laboratory that performs all screening testing;
(Slaughter et al., 2010). others contract with regional centers, university
The purpose of newborn screening is laboratories, or private laboratories. Each state
to identify affected infants, but as previously must decide how the screening process is to be
noted, a certain number of unaffected infants conducted, how to notify the parents and pro-
will be identified as being at risk. For some fessionals of the results, and how to follow up
conditions, these false-positive cases turn out on abnormal results. Each state may make a dif-
to represent individuals who are carriers for the ferent decision depending on a number of fac-
condition. With the advent of DNA testing, an tors including its resources, population mix, and
increasing number of carrier infants have been birth rate. However, with the passage of The
identified. These infants do not have the dis- Newborn Screening Saves Lives Act of 2008
ease but are carrying one DNA mutation for most states began to follow a uniform practice
the screened disease. In many cases, the fami- for performing and following up on newborn
lies of these newborns will be referred to a spe- screening (National Newborn Screening and
cialty center for further testing and counseling. Genetics Resource Center, 2010).
If it is determined that the infant is a carrier, Further expansion of screening programs
then genetic counseling will be offered to the has been driven by consumer activism and new
parents so that they can better understand the technologies (especially tandem mass spectros-
risk of recurrence for themselves, for their child copy). The HHS Secretary’s Advisory Com-
(and his or her future children), and for the mittee on Heritable Disorders in Newborns
child’s siblings (who may also be carriers for the and Children has developed an evidence review
condition). process to consider additional conditions for
universal screening. As of February 2010,
The Past, Present, and they have evaluated nine conditions and rec-
ommended the addition of one (SCID) to the
Future of Newborn Screening
uniform panel. The advisory committee looks
The first successful newborn screening pro- at the scientific evidence to make recommen-
gram was started in Massachusetts in 1962 with dations for inclusion in the screening panel by
screening for PKU (MacCready, 1963). Pre- reviewing the condition, diagnosis, and treat-
ventive screening was mandated by the state ment and screening methods. They look at the
and subsequently adopted by other states over natural history of the disease, at how early and
a period of several years. Expansion of newborn by what method the disease is diagnosed, and
screening began in earnest in 1975 when a test at the clinical variability and burden of disease.
They also review information on the methods legislative acts. Therefore some conditions that
available for newborn screening, including the were not accepted by the advisory committee
validity, sensitivity, positive-predictive value, are, in fact, being tested for in a few specific
cost, and whether or not it can be multiplexed states. The lysosomal storage disorders are a
(more than one disease identified from the same good example of this. Many people feel that
run). Then they review the diagnosis and treat- this group of diseases is a good candidate for
ment options to see if confirmation of the diag- newborn screening. However, they were not
nosis is available and if early identification and recommended by the advisory committee.
treatment can improve the outcome (Calonge Lysosomal storage disorders are a group of
et al., 2010; Watson, 2006). about 40 diseases in which there is progressive
A state can also add diseases to their accumulation of a substance in the lysosome
newborn screening panel through their own that is normally broken down. In lysosomal
Table 5.3. Recommended newborn screening core panel

Disorder Number of states mandateda
Amino acid disorders
Argininosuccinate lyase deficiency (ASA) 51
Citrullinemia 51
Homocystinuria 51
Maple syrup urine disease (MSUD) 51
Phenylketonuria (PKU) 51
Tyrosinemia type I 47
Organic acid disorders
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG) 51
Glutaric acidemia type 1 (GA1) 51
Isovaleric acidemia (IVA) 51
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) 49
Multiple carboxylase deficiency 50
Methylmalonic acidemia (Cbl A,B) 51
Methylmalonic acidemia (mutase deficiency) 51
Beta-ketothiolase deficiency 51
Propionic acidemia (PA) 51
Fatty acid oxidation disorders
Carnitine uptake defect 50
3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD) 51
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) 51
Trifunctional protein deficiency (TFP) 50
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) 51
Hemoglobinopathies
Hb S/S; Hb S/ßTh; Hb S/C 51
Other
Congenital adrenal hyperplasia 51
Biotinidase deficiency 50
Congenital hypothyroidism 51
Cystic fibrosis 51
Galactose-1-phosphate uridyltransferase deficiency (Galactosemia) 51
Hearing loss 36b
Based on data from National Newborn Screening and Genetics Resource Center (NNSGRC). Data retrieved
November 15, 2010, from http://genes-r-us.uthscsa.edu, from material updated by NNSGRC as of August 8, 2010.
Please see http://genes-r-us.uthscsa.edu/nbsdisorder5s.htm for most updated list.
a
Only states that universally require a screening by law are counted (other states have universally offered screening but do
not require it universally or for selected populations); Washington, D.C., is counted for “51 states.”
b
Additional states universally offer but do not universally require hearing screening.
70 Pellegrino
storage disorders, the substance is unable to PRENATAL SCREENING

be metabolized due to a defect in an enzyme.
Complementary to newborn screening is pre-
Some of these disorders are treatable by either
natal screening (screening during pregnancy
enzyme replacement therapy or stem cell trans-
to identify conditions that affect the fetus). As
plant. However, in order to optimize treatment
with newborn screening, numerous prenatal
it should begin as soon as possible, making
screening tests are now available (see Chapter
early identification critical. New York State
4). One can choose first-trimester screening
added one lysosomal storage disorder, Krabbe
tests, consisting of a blood test combined with
disease, to its screening panel in 2006 (Duffner
a fetal ultrasound examination, or a second-tri-
et al. 2009). Several other states have recom-
mester maternal serum screening. In addition,
mended screening for some of these disorders
screening can be done before pregnancies in
as well. Screening methods have been reported
certain at-risk populations (e.g., carrier detec-
for Krabbe, Gaucher, Fabry, Sandhoff, Nie-
tion for Tay-Sachs disease in the Ashkenazi Jew-
mann Pick, Tay Sachs, Maroteaux-Lamy, Adre-
ish population or mutation analysis for fragile X
noleukodystrophy, and Pompe (Duffey, Sadilek,
syndrome in an extended family in which one
Scott, Turecek, & Gelb, 2010; Kemper, 2007;
family member has been previously identified as
Marsden & Levy, 2010; Matern, 2008; Ray-
having the disorder). Population-based screen-
mond, Jones, & Moser, 2007). It is likely that
ing of pregnant women is also available for cys-
some of these disorders will be added to new-
tic fibrosis, spinal muscular atrophy, and fragile
born screening panels in the future.
X syndrome. Prenatal screening tests are par-
As new technologies are developed and
ticularly relevant in instances where increased
therapeutic advances are made, the list of con-
risk is recognized on the basis of advanced
ditions recommended for newborn screening
maternal age, ethnicity, or a positive family his-
is likely to expand. As an example, with the
tory for a particular inherited disorder. Positive
completion of the Human Genome Project,
results from screening tests may prompt more
the discovery of hundreds of mutations causing
involved diagnostic testing, including high-res-
disorders being screened for opens the possibil-
olution fetal imaging, amniocentesis, chorionic
ity of using expression microarray technology
villus sampling, and even percutaneous umbili-
to screen for these mutations in the newborn
cal blood sampling. These are considered diag-
period rather than to screen for metabolic
nostic tests because they are performed to look
abnormalities resulting from the mutations
for a specific disorder. Chromosomal analysis,
(the MS/MS method). Chromosomal microar-
enzymatic assays, and molecular testing can all
ray has become the first-tier test for individuals
be done on fetal tissue that is obtained through
with developmental disabilities or congenital
diagnostic testing in order to confirm a diagno-
anomalies (Miller et al, 2010). This technology
sis or to rule it out.
could be used for newborn screening as well.
There is no doubt that newborn screening
will expand in the future. The challenge will SUMMARY
be to balance the legal, ethical, and social con-
cerns that can be raised by expanded screening Screening tests are important tools used to
(Bailey, Skinner, Davis, Whitmarsh, & Powell, help define increased risk for significant medi-
2008). There is clinical variation in many of the cal and genetic conditions. These tests can be
screenable diseases, making it difficult to know used for mass screening of newborns, and they
who to treat and when to institute therapy. are also useful for prenatal screening and tar-
DNA-based technology can detect carriers and geted screening of specific at-risk populations
can also detect sequence variations and poly- and ethnic groups. Newborn screening is one of
morphisms for which we have little informa- the most important and effective public health
tion, making it difficult to know the clinical measures. Many infants have been identified
significance (Fleischman, Lin, & Howse, 2009). through this early screening and have been
There may also be a paradigm shift from the successfully treated with resultant improved
newborn as the patient, to the family as the outcomes. However, some of the metabolic dis-
patient. In this view the family receives the orders can have lifelong complications despite
information on carrier status and its implica- therapy. The number of diseases and disor-
tion for prenatal diagnoses in future pregnan- ders screened for has grown over time and will
cies (McCabe & McCabe, 2008). likely continue to increase. Parents have been
the greatest advocates for expanding newborn (2009). Newborn screening for Krabbe disease: The
screening and will continue to play a major New York State model. Pediatric Neurology, 40(4),
245–252.
role as we move forward (Lipstein, Nabi, et al., Dussault, J.H., Coulombe, P., Laberge, C., Letarte, J.,
2010). As more infants are identified with more Guyda, H., & Khoury, K. (1975). Preliminary report
diseases and disorders, future research will be on a mass screening program for neonatal hypothy-
aimed at developing innovative therapies to fur- roidism. Journal of Pediatrics, 86, 670–674.
Fernhoff, P.M. (2009). Newborn screening for genetic
ther improve outcomes.
disorders. Pediatric Clinics of North America, 56(3),
505–513.
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sen, P., & Nørgaard-Pedersen, P.B. (2010). Congeni- Endrocrinology, 5(9), 490–498.
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& Nagelkerke, A.D. (2009). Newborn screening for
6 The First Weeks of Life
Chrysanthe Gaitatzes, Taeun Chang, and Stephen Baumgart
Upon completion of this chapter the reader will have

■ A basic understanding of the events taking place during the transition from fetal
to extrauterine life
■ A basic understanding of neonatal problems that may be associated with
developmental disabilities, including:
■ persistent pulmonary hypertension
■ hypoxic ischemic encephalopathy
■ neonatal seizures
■ hypoglycemia and other metabolic disturbances
■ neonatal stroke
■ neonatal infection
Given that most infants are born into the world ■ ■ ■ Justin
without any special difficulty, it is easy to take
for granted the astonishing complexity of the Justin was born at 39 weeks’ gestation to a
birth process. A number of events must take 26-year-old mother. This was her third preg-
place in a precise and well-timed sequence nancy; she had previously delivered two healthy
for the newborn to have a healthy beginning. full-term infants. Justin’s mother developed
Understanding the basic principles of normal insulin-dependent diabetes during her preg-
fetal physiology is key to understanding the nancy (gestational diabetes). Other prenatal
normal transition to the extrauterine environ- laboratory screening tests were unremarkable.
ment that occurs at the time of birth. In the sec- She presented to the hospital in active labor.
tions that follow, the typical fetal-to-neonatal Fetal heart rate monitoring by ultrasound
transition process is described for a full-term
revealed fetal distress, with long periods of
infant. Some of the most commonly encoun-
abnormally low heart rate during and between
tered early-life problems that may be associated
with future physiological and developmental labor contractions. This indicated that inade-
impairments are highlighted. quate oxygen was being supplied to the infant’s
73
74 Gaitatzes, Chang, and Baumgart
heart muscle and other vital organs. Justin was nutrients circulates from the placenta through
therefore delivered by emergency Cesarean the umbilical cord via a single umbilical vein
section within 20 minutes. The obstetrician (Figure 6.1). The blood in the umbilical vein
noted that Justin had passed thick meconium then passes through the ductus venosus (a
(the first bowel movement, usually passed after major blood channel that develops through the
birth) into the amniotic fluid before his delivery. embryonic liver) into the inferior vena cava
(the main vein feeding into the infant’s heart).
Because of his mother’s diabetes, he was large
The vena cava blood flows into the right atrium
for gestational age, weighing more than 4 kilo-
and then the right ventricle of the heart. In
grams, or over 9 pounds. This made his delivery adult circulation, blood exits the right ventricle
difficult through the small Cesarean incision. His via the pulmonary artery into the lungs, but
further hospital course is described throughout in the fetus only about 10% of this blood vol-
the chapter. ume passes into the lungs. The rest is shunted
away from the right and into the left side of
The Fetus Before Birth the fetal heart through the foramen ovale (a
tiny window between the right atrium and the
The condition of the fetus before birth depends left atrium) and the ductus arteriosus (a fetal
primarily on three things. First, fetal circula- blood vessel that bypasses the main pulmo-
tion must be adequate to support oxygenation nary artery and lungs). In this way oxygenated
and nutrition of the fetus. Second, the amniotic blood from the placenta flows into the aorta,
fluid must be of adequate volume to permit fetal the major artery supplying oxygenated blood
breathing movements, and thus support normal to the body and brain. After the vital organs
lung development. And third, the fetal diges- extract oxygen and nutrients from the arterial
tive system must be functioning well to perform blood circulation, deoxygenated venous blood
amniotic fluid swallowing and thus support returns to the placenta via two umbilical arter-
development of the stomach, intestines, and ies that pass out of the umbilical cord. Here it
other digestive organs. is replenished with oxygen and nutrients that
are derived from the mother’s circulation, and
Fetal Circulation carbon dioxide, heat, and other metabolic waste
The fetal heart begins to develop during the products (e.g., acids) are removed. The fetal
third week of gestation and starts to beat during lungs play no role in oxygenation or ventilation
the fourth week; soon thereafter blood circula- (removal of carbon dioxide from the infant)
tion is established. Blood carrying oxygen and prior to birth.
aorta
lung
ductus arteriosus
foramen ovale
liver
ductus venosus
umbilical vein
kidney
placenta
waste
from fetus
umbilical
arteries
food and oxygen

from mother
umbilical cord
Figure 6.1. A) Fetal circulation. The foramen ovale and patent (open) ductus arteriosus allow the blood flow to bypass the
unexpanded lungs. B) Postnatal circulation. The fetal bypasses close off with expansion of the lungs.
The First Weeks of Life 75
Amniotic Fluid sucking. These provide a crucial foundation of

The fetal lungs are filled with a clear fluid skills needed for the infant to feed during the
secreted by the lung cells, which act like a early days and weeks of postnatal life (Health
gland during prenatal life. Some of this fluid, Grades Inc., 2011).
in combination with the fetus’ urine, com-
prises the amniotic fluid, which is essential for: THE BIRTH PROCESS
1) cushioning the fetus within the mother’s
uterus, 2) allowing free movement of the fetal ■ ■ ■ Justin (continued)
limbs and muscles, and 3) promoting symmet-
ric unrestricted body growth. Amniotic fluid After the obstetrician delivered Justin’s head
is also essential for normal lung development but before delivering his body, she suctioned
as the fetus practices breathing movements his nostrils and throat with a bulb syringe. This
before birth. The presence of too little fluid was done to clear as much of the meconium out
(oligohydramnios) can be associated with of his airways as possible prior to his first breath.
hypoplastic (small, underdeveloped) lungs, After Justin was delivered, he was quickly
limb abnormalities, poor fetal growth, and pre- placed under a radiant heating lamp to maintain
maturity or stillbirth. Oligohydramnios can his temperature. He was apneic (not breathing
occur for a number of reasons (Smith, 1976); for
on his own) and limp. The pediatrician in atten-
example, this occurs in genetic syndromes asso-
dance for this high-risk delivery placed a plastic
ciated with absent or malfunctioning kidneys,
such as Potter syndrome. Polyhydramnios, tube into his airway (tracheal intubation) and
the presence of too much amniotic fluid, also suction was applied. She aspirated thick, tar-like
has a number of causes, including maternal meconium out of the trachea. The pediatrician
causes (e.g., maternal infections, diabetes) and repeated the procedure three times, until no
fetal causes. Polyhydramnios may be associ- more meconium was cleared. By then Justin was
ated with certain malformations that obstruct 80 seconds old and had not yet taken his first
the amniotic fluid circulation through the breath. His heart rate was about 60 beats per
gastrointestinal system, kidneys, and the fetal minute (normal is over 100 beats per minute). At
heart (i.e., duodenal atresia in a fetus with this point a first minute Apgar score (see Table
Down syndrome).
6.1; Apgar score section) was assigned, giving
The gastrointestinal tract is very active dur-
him only 1 point out of 10 (for the presence of a
ing fetal development. The fetus swallows and
absorbs amniotic fluid regularly. Meconium heart rate under 100 beats per minute).
(fetal stool) consists mostly of swallowed amni- Justin was vigorously stimulated by rub-
otic fluid debris, gastrointestinal mucous, green bing his chest and abdomen with a warm, dry
bile secretions from the liver, and sloughed off towel. Positive pressure ventilation (PPV; arti-
gastrointestinal lining cells. It begins to form ficial breathing) was provided with a rubber
during the first trimester of pregnancy. Under facemask and bag, connected to 100% oxygen.
normal nonstress conditions the fetus does not Despite 30 seconds of PPV, Justin still showed
pass meconium in utero. Meconium-stained no respiratory efforts, and his heart rate was now
amniotic fluid results from an early bowel move- less than 60 beats per minute. The pediatrician
ment and is a sign of intrauterine fetal distress,
started chest compressions of the sternum over
usually caused by lack of oxygen from the pla-
the infant’s heart while the nurse continued PPV.
centa. Meconium is thick, tar-like, and can irri-
tate or damage the infant’s lungs if aspirated at After 30 more seconds, Justin’s heart began to
the time of delivery (March of Dimes, 2010). beat at a normal rate. The medical team contin-
ued to stimulate Justin, but his breathing effort
remained erratic. A tube was once again placed
The Nervous System into his trachea, but this time it was taped into
place to allow Justin to receive mechanical
Normal fetal brain development requires a
complex sequence of events, and disruptions ventilation. His Apgar score at 5 minutes was 3
can lead to a range of brain malformations (see (2 points were awarded for heart rate above 100
Chapter 2). The fetal brain has been shown to be per minute, and 1 point for attempted but poor
active prenatally. Many fetal neurologic reflexes respirations). He remained completely flaccid,
have been identified, including swallowing and with no muscle tone or spontaneous movement.
The First Breath assessing the well-being of newborns. This

In a typical birth, the process of clearing the scoring system remains in routine use today
fluid from the lung alveoli (the tiny air sacs and consists of a total of 10 points that are
where gases are exchanged) is stimulated by the given for the infant’s color/appearance, heart
initiation of labor (Bland, 1992; Welty, Hansen, rate, respirations, reflex irritability when stimu-
& Corbet, 2005). The mechanical compres- lated, and muscle tone at rest (see Table 6.1).
sion of the infant’s chest as it passes through The Apgar score is usually assigned at 1 minute
the narrow birth canal further contributes to and again at 5 minutes following birth. When
the fluid’s evacuation from the alveoli. After the resuscitation is required, as for baby Justin, a
first few breaths, the majority of the fluid has 10-minute Apgar score is added. The 1-minute
been pushed out of the alveoli and absorbed Apgar score primarily reflects the infant’s con-
into the pulmonary capillaries and lymphatic dition resulting from the intrauterine experi-
vessels. Thereafter, breathing becomes much ence immediately prior to birth; the 5- and
easier, and normal gas exchange (oxygen for 10-minute scores reflect the infant’s condi-
carbon dioxide) takes place. The effort required tion in the immediate postnatal period. Apgar
to breathe is also reduced when the first breath scores are most helpful in allowing health care
stimulates the secretion of surfactant from professionals to communicate their impression
gland-like cells in the lung. Surfactant is a lipo- of a newborn’s condition with other health care
protein that acts like a soap bubble, allowing professionals. Apgar scores are not intended to
for a significant decrease in the alveolar mem- determine decisions regarding resuscitation and
brane’s surface tension, making breathing much are generally not predictive of long-term devel-
easier and the lungs more flexible. opmental outcomes (Behnke et al., 1988).
Aeration improves the amount of oxygen
■ ■ ■ Justin (continued)
in the infant’s blood and the pH (blood acidity),
and it decreases the amount of carbon diox- While Justin was still in the delivery room and
ide, a waste by-product of the infant’s metab- after the umbilical cord was cut by the obste-
olism. These changes enhance pulmonary trician, a central (deep vein) intravenous cath-
vasodilation (relaxation and dilation of blood eter was placed via Justin’s umbilical cord. The
vessels within the lung) in response to gas entry, umbilical vein enters the abdominal wall and
allowing blood to circulate more freely through
then runs through the liver and into the infe-
the lungs. The flow of blood thru the lungs
rior vena cava near the heart. As a result, fluid
stimulates the closure of the ductus arterio-
sus (mostly closed within 6 hours, completely infused through an umbilical catheter is rapidly
closed by 3 days) and the foramen ovale, com- carried throughout the body. Justin received an
pleting the transition from fetal circulation to infusion of normal saline (a salt solution used
the postnatal “adult” circulation. to improve circulatory perfusion and to cor-
rect low blood pressure). Initial measurement
The Apgar Score of his serum glucose level showed significant
Virginia Apgar (1909–1974) was a physician and hypoglycemia (a dangerously low blood sugar
humanitarian who is best known for the scoring level), probably due to the mother’s poor blood
system she devised in 1952 for systematically sugar regulation with her gestational diabetes
Table 6.1. Apgar scoring system

Sign 0 Points 1 Point 2 Points
A Activity (muscle tone) Absent, flaccid Arms and legs flexed Vigorous movements
P Pulse Absent < 100 bpm > 100 bpm
G Grimace (reflex irritability) No response Grimaces only Sneeze, cough, cry
A Appearance (skin color) Blue-gray, pale despite Normally pink, except Normally pink over
oxygen administration for extremities, may entire body without
require oxygen to giving extra oxygen
become pink
R Respiration Absent (apnea) Slow, irregular, or Good, vigorous, crying
gasping
Note: The Apgar scoring system evaluates the newborn’s transition to normal breathing and activity during the first 5 min-
utes of life after birth.
(March of Dimes, 2010). Justin was then given are not fully understood, this drop in pulmonary
intravenous dextrose (a simple sugar similar to vascular resistance does not occur in a timely
glucose) through the umbilical vein catheter to manner in some infants, causing persistent
correct his blood sugar. Then he was transferred pulmonary hypertension (PPHN; also called
to the neonatal intensive care unit (NICU) for persistent fetal circulation). The first sponta-
further management. neous breath facilitates vasodilation by caus-
ing alterations in the blood (i.e., the improved
In the NICU, Justin’s endotracheal tube was
pH, oxygen, and carbon dioxide content pre-
connected to a mechanical ventilator to assist
viously noted), so the absence of a first breath
his breathing. He was started on a continuous may hamper the changeover process. Persistent
infusion of dopamine (an adrenaline-like drug) pulmonary blood vessel constriction causes
to increase his falling blood pressure and to decreased circulation through the lungs. As a
promote circulation to his brain. He continued result, deoxygenated blood is shunted from the
to require 100% oxygen to stay pink (instead right side to the left side of the heart through
of ambient 21% oxygen). That high oxygen the patent ductus arteriosus (PDA) and/or the
requirement, in combination with the history of foramen ovale (that failed to close as in normal
meconium aspiration in the delivery room, sug- transition described above), without first going
gested the possibility that Justin had developed through the lungs to get oxygenated and to be
rid of carbon dioxide (Figure 6.2). This causes a
a condition known as persistent pulmonary
significant strain to the heart from both hypoxia
hypertension of the newborn (PPHN).
and high blood pressure in the lungs and can
cause heart failure.
Persistent Pulmonary
In addition to meconium aspiration, there
Hypertension of the Newborn are other causes of PPHN including pneumo-
In the fetus, the pulmonary blood vessels offer nia, sepsis (bacterial infections of the lungs
high resistance to blood flow from the heart, or blood), and lung hypoplasia. Most infants
allowing blood that has been oxygenated in with PPHN respond to mechanical ventila-
the placenta to bypass the nonfunctioning fetal tion or inhaled nitric oxide (iNO), a thera-
lungs and flow to the rest of the body. At birth, peutic gas that is added to the infant’s oxygen
the pulmonary vascular resistance must drop supply. For infants who do not respond to
(i.e., the blood vessels of the lungs must dilate) mechanical ventilation or iNO, a life-saving
to allow the lungs to take over the function of procedure known as extracorporeal membrane
delivering oxygen to the blood. For reasons that oxygenation (ECMO) is used. The infant’s
Figure 6.2. Pulmonary hypertension of the newborn resulting in a postnatal persistence of fetal shunting within the heart of
blue blood across the ductus arteriosus and the foramen ovale (fetal channels). This results in hypoxia throughout the systemic
circulation; red color indicates oxygenated blood, blue indicates blood lacking oxygen, and purple indicates abnormal mixing of
blue with red blood, resulting in poor oxygen delivery out of the heart into systemic circulation (especially to the brain).
circulating blood is redirected by a mechani- if he was unable to recover oral feeding skills,
cal pump through an artificial lung oxygen- he might require placement of a permanent
ator, thus bypassing the infant’s lungs and/or gastrostomy feeding tube (see Chapter 31). Jus-
heart. ECMO is, in effect, a heart–lung bypass tin’s parents also understood that he was at a
machine. It is used until the infant’s lung blood high risk for developing cerebral palsy as well as
vessels are no longer under increased pressure. hearing and vision problems. Therefore medical
follow-ups were scheduled, and he was referred
■ ■ ■ Justin (continued)
to an early intervention therapy program (see
Justin responded well to iNO. Within a few days Chapter 10).
his oxygen level was weaned from 100% back to Hypoxic Ischemic Encephalopathy
room air, and by 2 weeks after birth, he was able
Justin developed his brain injury as a result of
to breathe on his own. Unfortunately, a head hypoxic ischemic encephalopathy (HIE).
CT brain scan obtained when he was 4 days old This is a condition involving both inadequate
revealed evidence of diffuse hypoxic injury (Fig- oxygen and inadequate blood circulation to
ure 6.3). Just before going home, Justin had a the brain, leading to dysfunction. The prin-
magnetic resonance imaging (MRI) scan of the cipal prenatal cause of HIE is compromise
brain, which confirmed global, severe cerebral of the placental blood supply to the fetus
injury involving multiple cortical and subcortical (placental insufficiency). This can occur with
areas of the brain (see HIE in the next section). maternal diabetes (as in Justin’s case) or mater-
By his third week of life, Justin was taken nal hypertension (preeclampsia or toxemia
off intravenous nutrition. He was able to tolerate
of pregnancy), placental abruption (early
separation of the placenta from the uterine
formula provided through a feeding tube, but
wall), maternal shock, umbilical cord prolapse
he showed no evidence of a suck or a protective (delivery of the cord prior to the infant, with
gag reflex. At the time of his discharge from the compression of cord and blood supply as the
NICU, Justin was receiving his feedings through infant is delivered), and intrauterine growth
a nasogastric tube, with the understanding that restriction (often resulting from abnormal
Figure 6.3. Computed tomography (CT) scan of the brain showing diffuse brain injury (white areas, arrows). Arrows indicate
absence of normal cortex rim, which is noted throughout the cortex with beginnings of cystic formations in the cortex and
edematous basal ganglia.
placental development). When HIE develops, and 6.6). A magnetic resonance imaging (MRI)
the infant’s body responds by redistributing scan obtained shortly after birth showing abnor-
blood away from “nonvital organs” (e.g., kid- malities in both cerebral hemispheres and deep
neys, liver, lungs, intestines, skeletal muscles) structural abnormalities (indicated in the figure by
and towards perfusion of the “vital organs” arrows), as in Justin’s case, is strongly correlated
(e.g., heart, brain, adrenal glands). This is with a poor neurodevelopmental outcome (Bian-
why kidney and liver failure often occur con- ioni et al., 2001; Rutherford et al., 2004; Massaro,
currently with severe HIE. Neonates with Nadja Kadom, Chang, & Baumgart, 2010). An
HIE have symptoms of abnormal neurologi- MRI technique known as diffusion-weighted
cal function including decreased activity level, imaging (DWI) is currently the gold-standard
poor suck and feeding, respiratory difficulty, for identifying early ischemic injury in specific
temperature instability (hypothermia, and/or regions of the brain (Figure 6.4).
fevers in early infancy), and seizures. The medical management of infants
The most popular system for grading the with HIE focuses on correcting physiological
severity of HIE in neonates is known as the abnormalities that are life threatening. These
Sarnat Neurological Score and includes sev- include hypoxemia (low blood oxygen con-
eral clinical findings as well as EEG testing tent), hypercarbia (high blood carbon-dioxide
(Sarnat & Sarnat, 1976). HIE is graded into content), acidosis, hypotension (low blood
three stages, with Stage 3 being the most severe pressure/shock), hypoglycemia, and seizures.
(Table 6.2). Unlike the Apgar score, the Sarnat These disturbances are corrected with the use
neurological score is more useful in prediction of oxygen, mechanical ventilation, intravenous
of subsequent delayed neurological develop- medications, seizure medications, and ther-
ment. An infant with a Sarnat score of 1 may be moregulation (temperature support). Drugs
hyper-alert and jittery for a day after birth but and nonpharmacologic interventions that may
is likely to recover completely, breathing and be neuroprotective during HIE are also being
feeding normally before going home in a few studied (Whitelaw & Thoresen, 2002). The
days. These infants are at low risk for develop- major nonpharmacologic intervention involves
ing cerebral palsy or intellectual disability. An therapeutic hypothermia (whole body cooling)
infant with a Sarnat score of 3 (like Justin) has and results in a decrease in brain temperature
a 70% risk of either dying shortly after birth or and therefore a decrease of metabolic activity,
going on to have physical and cognitive impair- inflammation, and later neuronal death (Gluck-
ments by 1–2 years of age. An infant with a Sar- man et al., 2005; Gunn & Gunn, 1998; Hoehn
nat score of 2 has an outcome between those et al., 2008; Jacobs, 2010; Shankaran et al.,
described for Sarnat scores of 1 and 3 (de Vries 2005; Simbruner, Mittal, Rohlmann, Muche, &
& Jongmans, 2010). nEURO.network Trual Participants, 2010).
Neuroimaging is very helpful in assessing the Long-term follow-up with neurologists
extent of the hypoxic-ischemic injury (Figures 6.4 and developmental specialists is imperative for
Table 6.2. Sarnat examination for scoring neonatal encephalopathy

Factor Stage 1a Stage 2b Stage 3c
Level of consciousness Hyper-alert Obtunded/lethargic Stuporous/coma
Neuromuscular tone Normal, vigorous Hypotonia, looseness Flaccid or fixed stiffness
(decerebrate posturing)
Reflexes Hyperactive Moro reflex Weak primitive reflexes Absent reflexes
Autonomic (vital signs) Fast heart rate Slow heart rate Slower heart rate
(tachycardia) (bradycardia) Pupils dilated/unreactive
Pupils constricted
Seizures None Multifocal Brainstem reflex only
Electroencephalogram Normal, organized Epileptic threshold Depressed or absent
(EEG) rhythms (delta waves seen) Voltages flat
Sleep cycles present EEG/Electrographic
seizures present
Source: Sarnat and Sarnat (1976).
Note: aStage 1: Mild encephalopathy <24hr likely to have normal developmental outcome.
bStage 2: Moderate encephalopathy <5days normal, >7days likely to have poor outcome.
cStage 3: Severe encephalopathy severe impairment, or death 70% likely.
Figure 6.4. Diffusion-weighted imaging/magnetic resonance imaging scans highlighting severe global cerebral injury involv-
ing the cerebral cortex, the underlying white matter (corticospinal tracts; arrow on the left scan), and the centrally located basal
ganglia (arrow on the right scan) on both sides of the brain.
infants like Justin. Long-term deficits range metabolic disturbances such as hypoglycemia,
from mild to severe and include learning dis- hypocalcemia (low blood calcium), hyper-, or
abilities (Chapter 23), visual and hearing hyponatremia (high or low blood sodium con-
impairment (Chapters 10 and 11), intellec- centration), and other electrolyte imbalances.
tual disability (Chapter 17), and cerebral palsy They may also result from traumatic brain
(Chapter 24). According to the National Col- injury (from forceps/vacuum-assisted deliver-
laborative Perinatal Project (NCPP; Hardy, ies or prenatal maternal trauma), thrombosis
2003), factors that were found to be associated (clot) or brain hemorrhage, infections (e.g.,
with increased morbidity included ongoing meningitis), inborn errors of metabolism (see
neonatal seizures, decreased activity after the Chapter 19), and maternal substance abuse
first day of life, temperature instability past the (withdrawal symptoms).
first 3 days of life, and ongoing problems with EEG is the standard tool for assessing clin-
feeding and breathing. ically observed seizures (Figure 6.5). An abnor-
mal EEG announces the presence of a central
Neonatal Seizures nervous system injury. The underlying cause of
the seizure (e.g., inborn errors of metabolism,
Neonatal seizures can present clinically or as HIE, congenital infections) is independently
EEG abnormalities (see Chapter 27). Clinical important to prognosis for disability. Poor
seizures often manifest as stiffening (tonic) or background organization or reactivity to stim-
jerking (clonic) movements of the arms or legs, uli suggests a diffuse insult to the brain, whereas
or as rhythmic bicycling or rowing movements focal areas of irritability or seizures suggest an
of the extremities. They can also be very subtle, acute localized brain injury. Subtle seizures or
such as oral–lingual movements (spasmodic lip electrographic seizures (seizures that are not
smacking or tongue thrusting), ocular move- clinically evident) can also be distinguished
ments (excessive blinking or prolonged eye using EEG and monitored for response to
opening/staring), or as apneas associated with medical treatment. The prognostic value of the
bradycardia (brief respiratory arrests associated EEG is increased if performed within the first
with low heart rate). 48 hours of life, and if repeated every 24–48
There are many possible causes of neonatal hours to evaluate recovery during the acute epi-
seizures. They may be a consequence of HIE, sode. An EEG pattern that fails to improve or
becomes progressively more abnormal during severe or prolonged, hypoglycemia is just as

the first few days of life is associated with long- harmful as lack of oxygen because the neonatal
term neurological sequelae. brain is completely dependent on glucose for
The use of antiepileptic drugs (AEDs) for generating energy. The level of hypoglycemia
control of seizures in neonates is an area of that is considered abnormal depends on the age
active debate. The most commonly used AEDs of the infant. During their first day of life, new-
in newborns are phenobarbital and phenytoin borns normally have lower levels of circulating
(Dilantin). Traditionally, AEDs were prescribed glucose than older newborns. Neonatal hypo-
for infants up to 2 years of age to prevent sei- glycemia can be completely asymptomatic but
zure recurrence. The current approach, how- may result in seizures or nonspecific symptoms
ever, attempts to avoid the potentially adverse such as jitteriness, tremors, apneic spells, a weak
effects of long-term AEDs on the developing or high-pitched cry, limpness, lethargy, or dif-
neonatal brain by a trial period off medications ficulty feeding.
before hospital discharge (Kim, Kondratyev, Hypoglycemia is common in infants of
Tomita, & Gale, 2007). If there is no recur- diabetic mothers (as in Justin’s case) and neces-
rence of seizure activity, the infant is discharged sitates monitoring of blood glucose testing
home, without AEDs and with a plan for close every 30 minutes to 2 hours during the first few
neurological follow-up and monitoring. days of life. The hypoglycemia is the result of
the infant continuing to produce excessive insu-
lin for a few days after birth (as it did in utero in
Hypoglycemia
response to the mother’s gestational diabetes).
Newborns are vulnerable to hypoglycemia Other full-term neonates who are at high
(low blood sugar) because their ability to access risk for developing hypoglycemia include
liver glycogen stores (the main form of glucose infants who are small for gestational age or who
energy storage present at the time of birth) is have intrauterine growth restriction, asphyxia,
poorly regulated and immature. When it is hypoxia, or sepsis. Prevention of hypoglycemic
Figure 6.5. Electroencephalogram (EEG) polygraph showing increased electrical activity (bumpy waves) corresponding to
electrographic seizures recorded from wires taped to the scalp over the right side of the brain and resulting in left-sided seizure
movements clinically as noted at the bottom. First arrow indicates seizure activity beginning in the right frontal-temporal region.
Seizures quickly spread to involve the entire right hemisphere by the second arrow and then the entire brain by the third arrow.
Note that clinical seizure activity is not noted until the first vertical event marker at the bottom of this figure and that clinical
seizure activity is no longer seen after the second vertical event marker, despite the fact that there is generalized electrographic
seizures on the EEG, which continues on for another 20–30 seconds beyond what is shown here. Cortical seizures may be present
even in the absence of abnormal movements in a brain-injured baby.
encephalopathy requires the continuous intra- of recurrence for neonatal stroke is minimal,
venous infusion of dextrose for a few days until except for infants with congenital heart disease
the infant is feeding and the blood glucose lev- who develop clots emanating from abnormal
els become consistently normal. cardiac structures. There is no specific medi-
cal treatment for neonatal stroke except when
Neonatal Stroke a clotting disorder is identified, in which case
antiplatelet or anticoagulation medications
Neonatal stroke occurs in 2–9 per 10,000 live (aspirin or heparin) may be used. Early institu-
births and can cause cerebral palsy (Boardman tion of physical therapy after a stroke is impor-
et al., 2005; Mercuri et al., 2004) and other asso- tant for improving functional outcome and
ciated developmental disabilities. The stroke helping avoid muscle weakness and joint con-
is most often arterial in origin (Figure 6.6), tractures. Other developmental specialties may
although sinus vein thrombosis (clotted vein) be required to address additional, motor, cogni-
is also an important cause (Ferriero, 2004; de tive, and neurobehavioral abnormalities.
Veber et al., 2001). The most common clinical
presenting sign of a neonatal stroke is seizures
Neonatal Sepsis
in the first few days of life. However, other neo-
nates with stroke may present with later onset At birth, the newborn’s immunity to bacteria
of seizures (in the first weeks of life as opposed and viruses is immature. Newborns have fewer
to the first days) or develop a motor deficit. Risk white blood cells than older infants, and the
factors implicated in neonatal stroke include white blood cells that are present are less immu-
inherited or acquired thrombophilia (the ten- nologically active. This condition, combined
dency for one’s blood to clot more rapidly than with lower concentrations of specific immuno-
normal) or a structural vascular abnormality in globulin antibodies, makes the newborn vulner-
the brain (e.g., arterial–venous malformation or able to infection. The newborn infant’s white
AVM). Preeclampsia and intrauterine growth blood cells, which are responsible for primary
restriction also have been associated with an defense against bacteria, exhibit poor chemo-
increased occurrence of neonatal stroke (Wu taxis (the ability to migrate toward areas of
et al., 2004). It should be noted that the risk infection). The T-cell lymphocyte population
Figure 6.6. A) Magnetic resonance imaging (MRI) showing a right-side middle cerebral artery (MCA) infarction (white areas,
arrow). B) Diffusion-weighted MRI showing an area of restricted diffusion of water in the same region on the infarction as in A
(arrows).
(white blood cells responsible for recognizing antibiotics with suspected sepsis. As one
and chemically encoding into immunologic approach to early detection of neonatal sepsis,
memory any foreign bacterial substances) is the American College of Obstetrics and Gyne-
also not as effective in infants under 6 months cology (ACOG; Barclay, 2010) recommends
of age. In addition, the presentation of bacte- screening of all pregnant women for the pres-
rial antigen to a newborn does not stimulate ence of GBS colonization at 35–37 weeks’ ges-
an antibody formation response as quickly as tation.
it does in older children. Also, the neonate’s The clinical presentation of sepsis in the
physical barriers to infection (i.e., the skin neonate can be vague and nonspecific; the
and the mucous membranes lining the upper infant may even appear to be well until the
respiratory passages, lungs, intestines, and uri- sepsis becomes overwhelming. The most com-
nary tract) are not as robust a defense barrier, mon clinical features are 1) poor feeding, prob-
as they will become later in childhood. These ably the first and most sensitive sign of an ill
deficits in immune defenses are particularly infant; 2) excessive sleepiness or irritability;
egregious in premature infants, where bacte- 3) hypothermia or hyperthermia; 4) increased
rial infections are generally more common and respiratory rate; and/or 5) hypoglycemia. Any
more devastating. fever above 37.4 °C or 99.3 °F is considered a
Neonatal sepsis can be divided into two medical emergency in a neonate. Blood, cere-
time periods: 1) early onset, presenting within brospinal fluid, and urine must be sent for
the first 7 days of life; and 2) late onset, pre- microscopic analysis and cultures for the most
senting after 7 days. Early onset sepsis is caused likely organisms. Neuroimaging with brain CT
by maternal microorganisms that infect the or MRI can be useful in identifying focal areas
newborn either during passage through the of infection, and repeat scans can be useful in
colonized vaginal canal or transplacentally. assessing response to therapy and delineating
The most common bacteria that cause early injury to determine prognosis.
onset neonatal sepsis are Group B Streptococcus Outcomes of neonatal sepsis and men-
(GBS), Escherichia coli, Haemophilus influenza, ingitis vary and depend on the organ systems
and Listeria monocytogenes. In some cases, GBS most severely involved. Meningitis and menin-
infection results from direct aspiration into the goencephalitis can be devastating, with cogni-
infant’s mouth, throat, and lungs during the tive impairment and hearing loss being among
birth process, with subsequent passage of the the most common complications. Up to 25%
bacteria directly into the bloodstream. GBS can of newborns with bacterial or viral meningi-
also cause late onset sepsis. Late onset sepsis is tis will have some degree of serious, lifelong
most often due to bacteria acquired from the neurological deficit (Grimwood et al., 1995);
environment (onto the skin) or from the infant’s behavioral audiometry and vision testing should
own gastrointestinal tract. Most common late also be planned, since the risk for sensorineu-
onset pathogens in addition to GBS are Staph- ral hearing loss is particularly high following
ylococcus aureus (now becoming disturbingly meningitis.
resistant to the usual first-line antibiotics),
Escherichia coli, Klebsiella pneumoniae, Pseudo- ■ ■ ■ Justin (continued)
monas, Enterobacter, and Candida. Pneumonia
is the most common presentation for early Justin did not feed orally during his initial hos-
onset sepsis, whereas meningitis is the most pital stay and required surgical placement of a
common infection in late onset sepsis. Viruses permanent feeding (gastrostomy) tube. Justin
such as adenovirus, enterovirus, Coxsackie went home with his parents on tube feedings
virus and Herpes virus can also be the caus- and was seen by a pediatric neurologist and
ative agents of neonatal sepsis, and can cause developmental psychologist in a specialized
meningoencephalitis (a generalized and often infant development clinic (high risk clinic) at 6,
devastating infection of the brain and central
12, 18, and 24 months of age. By 6 months he
nervous system).
demonstrated hypertonic extensor posturing
The mortality of neonatal sepsis can be
greater than 50% among untreated or late- with neck and back arching. The State’s Infants
treated infants. As a result, physicians need and Toddlers Program was already involved, and
to be suspicious of sepsis in the neonate and referral was made specifically for physical ther-
aggressive in starting appropriate intravenous apy to assist his parents in providing exercises
for increasing range of motion for his limbs. He Bruno, V.M.G., Goldberg, M.P., Dugan, L.L., Giffard,
was fitted for splints. Additionally, a referral to R.G., & Choi, D.W. (1994). Neuroprotective effect of
hypothermia in cortical cultures exposed to oxygen-
an audiologist was made because he had failed glucose deprivation or excitatory amino acids. Jour-
his neonatal and early infant hearing screens. nal of Neurochemistry, 63, 1398–1406.
At 12 months of age Justin was clearly Connell, J., Oozeer, R., de Vries, L., Dubowitz, L.M.S.,
Dubowitz, V. (1989). Continuous EEG monitoring
developmentally delayed. He could not sit with- of neonatal seizures: Diagnostic and prognostic
out support, feed orally, or move and position considerations. Archives of Disease in Childhood, 64,
his limbs without adult assistance. He had been 452–458.
de Veber, G., Andrew, M., Adams, C., Bjornson, B.,
fitted for glasses and hearing aids. By 18 months Booth, F., Buckley, D.J., … Gillet, J. (for the Cana-
of age, the neurologist had diagnosed cerebral dian Pediatric Ischemic Stroke Study Group). (2001).
palsy affecting all limbs (spastic quadriplegia) Cerebral sinovenous thrombosis in children. New
England Journal of Medicine, 345, 417–423.
and made a referral to the March of Dimes to de Vries, L.S., & Jongmans, M.J. (2010). Long-term
support intervention. He was chronically medi- outcome after neonatal hypoxic-ischaemic encepha-
cated for epilepsy. By school age, he was in spe- lopathy. Archives of Disease in Childhood, 95, F220–
F224. doi:10.1136/adc.2008.148205
cial placement for comprehensive care and was Ferriero, D.M. (2004). Medical progress: Neonatal
considered to have severe intellectual disability. brain injury. New England Journal of Medicine, 351,
1985–1995.
Gluckman, P.D., Wyatt, J.S., Azzopardi, D., Ballard, R.,
SUMMARY Edwards, A.D., Ferriero, … Gunn, A.J. (on behalf of
the Cool Cap Study Group). (2005). Selective head
Although the vast majority of infants make the cooling with mild systemic hypothermia after neo-
transition from intrauterine to extrauterine natal encephalopathy: Multicentre randomized trial.
life without difficulty, for some infants prena- Lancet, 365, 663–70.
Grimwood, K., Anderson, V.A., Bond, L., Catroppa, C.,
tal injuries, genetic disorders, malformations, Hore, R.L., Kier, E.H., … Roberton, D.M. (1995).
environmental factors, including the birth Adverse outcomes of bacterial meningitis in school-
process and subsequent hazards in the weeks age survivors. Pediatrics, 95, 646–656.
immediately following birth, present chal- Gunn, A.J., & Gunn, T.R. (1998). The ‘pharmacology’
lenges. Persistent pulmonary hypertension, of neuronal rescue with cerebral hypothermia. Early
Human Development, 53, 19–35.
hypoxic–ischemic encephalopathy, neonatal Hardy, J.B. (2003). The collaborative perinatal project: Les-
seizures, metabolic disturbances, neonatal sons and legacy. Annals of Epidemiology, 13(5), 303–311.
stroke, and neonatal infection can result in Health Grades Inc. (2011). Feeding problems in newborn.
neurodevelopmental disabilities and require Retrieved from http://www.rightdiagnosis.com/
medical/feeding_problems_in_newborn.htm
aggressive medical intervention. Advances in Hoehn, T., Hansmann, G.B., Uhrer, C., Simbruner, G.,
perinatal and neonatal care provide hope that Gunn, A.J., Yager, J., … Thoresen, M. (2008). Thera-
progress will continue to reduce the incidence peutic hypothermia in neonates: Review of current
of adverse outcomes. clinical data, ILCOR recommendations, and sugges-
tions for implementation in neonatal intensive care
units. Resuscitation, 78, 7–12. doi:10:1016/j.resuscita-
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7 Premature and
Small-for-Dates Infants
Khodayar Rais-Bahrami and Billie Lou Short

■ Recognize some of the causes of prematurity and being small for
gestational age
■ Be able to identify physical characteristics of the premature infant
■ Understand the complications and illnesses associated with preterm birth
■ Be aware of the methods used to care for low birth weight infants
■ Know the results of outcome studies
The preterm infant is at an immediate disad- from inadequate blood supply. Finally, the pre-
vantage compared with the full-term infant. term infant’s eyes are more susceptible to the
In addition to facing all of the usual challenges damaging effects of the oxygen that is used to
of making the transition from intrauterine treat respiratory distress. This may result in
to extrauterine life (see Chapter 6), the pre- retinopathy of prematurity (ROP) and poten-
term infant must make these changes using tial for subsequent vision loss (see Chapter 11).
organs that are not yet ready to perform the Given these risks, it is remarkable that most
task. Almost every organ is immature (Hyman, preterm infants overcome these acute problems
Novoa, & Holzman, 2009). Decreased pro- with little residual effects. A minority, however,
duction of a substance called surfactant in the do sustain long-term medical and neurodevel-
lungs can lead to respiratory distress syndrome opmental complications. A discussion of these
(RDS); immaturity of the central nervous sys- complications and their prevention is the focus
tem places the preterm infant at increased risk of this chapter.
for an intraventricular hemorrhage (IVH),
periventricular leukomalacia (PVL), and ■ ■ ■ Erin
hydrocephalus; and inadequate kidney func-
Erin was born prematurely, at 23 weeks’ gesta-
tion makes fluid and metabolic management
difficult. An immature gastrointestinal tract tion, and weighed less than 500 grams (about
impairs the infant’s ability to digest and absorb 1 pound). During Erin’s first day of life, she
certain nutrients and places the gut at risk for needed artificial ventilation and surfactant
developing a life-threatening disorder called therapy to keep the air passages in her lungs
necrotizing enterocolitis (NEC), that results open. By 2 months of age, she was doing well
87
88 Rais-Bahrami and Short
enough to receive a pressurized oxygen–air Definitions of Prematurity

mixture through a high flow nasal cannula and Low Birth Weight
(HFNC-Vapotherm), but she had brief breath-
ing arrests (apnea) associated with a slowed A preterm or premature infant is one born at 36
heart rate (bradycardia). These problems were weeks gestation or before. Although there is no
universal system for birth-weight classification,
treated successfully with caffeine and frequent
it is commonly accepted that an infant with a
physical stimulation. In addition, she developed
birth weight less than 2,500 grams (5½ pounds)
NEC, leading to bowel perforation that required is low birth weight (LBW); an infant born
two major abdominal surgeries 10 weeks apart. weighing less than 1,500 grams (3¹/³ pounds) is
Meeting Erin’s nutritional requirements very low birth weight (VLBW); and an infant
was also a problem. Initially, she needed intra- with a birth weight lower than 1,000 grams
venous nutrition. Gradually, she was able to (2¼ pounds) is extremely low birth weight
tolerate increasing amounts of elemental infant (ELBW). An infant weighing less than 800
formula by a nasogastric tube, and by 3 months, grams (1¾ pounds) is sometimes called a micro-
she was strong enough to receive some of her preemie (Dani, Poggi, Romangnoli, & Ber-
feedings by bottle. At her 168th day of life (i.e., tini, 2009). Assessment of gestational age is also
important, because infants of low birth weight
postconceptional age of 45 weeks), weighing
may represent prematurely born infants or those
3,760 grams (8 pounds, 4½ ounces), Erin went
who are small for gestational age (SGA).
home on oxygen and caffeine and was hooked
up to an apnea monitor while taking all feed- Small for Gestational Age Infants
ings by mouth. Her parents had been instructed
Infants can be either full term or premature. In
how to administer oxygen therapy, how to use
either case, they have a birth weight below the
the monitor, and how to administer cardiopul-
10th percentile for a graph of population-specific
monary resuscitation (CPR) in an emergency. birth weight verses gestational age (Figure 7.1).
Although her overall prognosis is good, Erin SGA infants are also referred to as dysmature or
will need continued medical and neurodevelop- small for dates. In addition to being small, these
mental monitoring until she is school age. infants also appear malnourished, usually because
Figure 7.1. Newborn weight by gestational age. The shaded area between
the 10th and 90th percentiles represents infants who are appropriate for
gestational age. Weight below the 10th percentile makes an infant small for
gestational age (SGA). Prematurity is defined as being born before 36 weeks’
gestation. (From Lubchenco, L.O. [1976]. The high risk infant. Philadelphia:
W.B. Saunders; reprinted by permission.)
Premature and Small-for-Dates Infants 89
of intrauterine growth restriction (IUGR). 2004). Using a combination of these methods

About one half of SGA births are attributable to increases the accuracy of gestational age assess-
maternal illness, smoking, or malnutrition (Griv- ment.
ell, Dodd, & Robinson, 2009). These infants
tend to be underweight but have normal length Physical and
and head circumference; they are said to have Behavioral Characteristics
asymmetric SGA because of this discrepancy in
of the Premature Infant
growth pattern. The other half of SGA births are
said to have symmetric SGA (equally deviant in Several physical and developmental character-
length, weight, and head circumference). These istics distinguish the premature infant from the
infants may have been exposed in utero to alcohol full-term infant. A scoring system developed by
or to infections such as cytomegalovirus. Infants Dubowitz, Dubowitz, and Goldberg (1970) and
with certain chromosomal and other genetic dis- updated by Ballard et al. (1991; Figure 7.2), takes
orders also present as symmetrical SGA infants these characteristics into account and enables
(Suresh, Horbar, Kenny, Carpenter, & Vermont the physician to estimate the infant’s gestational
Oxford Network, 2001). SGA infants, whether age with some accuracy. The limitation of this
full term or preterm, are recognized as having scoring system is the postnatal age of the infant.
an increased risk for many complications in the If the scoring is not performed within the first
newborn period (e.g., hypoxia, hypothermia, 24 hours of birth, neurological and some physi-
hypoglycemia), increased perinatal and neonatal cal features (e.g., skin texture) can change, mak-
mortality, long-term growth impairments, and ing the infant appear more mature. Also, any
developmental disabilities (Argente, Mehls, & severely ill infant can be difficult to evaluate due
Barrios, 2010; Bottino, Cowett, & Sinclair, 2009; to altered neurological status.
Casey, 2008; de Bie, Oostrom, & Delemarre-van The main physical characteristics that dis-
de Wall, 2010; McCall, Alderdice, Halliday, Jen- tinguish a premature infant from a full-term
ins, & Vohra, 2010; McCowan & Horgan, 2009; infant are the presence in the premature infant
Sinclair, Bottino, & Cowett, 2009). of fine body hair (lanugo) and smooth, reddish
skin, along with the absence of skin creases,
Assessment of Gestational Age ear cartilage, and breast buds (Figure 7.3). In
Assessment of gestational age helps distinguish addition to the physical appearance, prema-
an appropriate-for-gestational-age infant from ture infants display distinctive neurological and
an SGA infant. In addition, it influences treat- behavioral characteristics, including reduced
ment approaches, neurodevelopmental assess- muscle tone and activity and increased joint
ment, and outcome. The gestational age is mobility (Constantine et al., 1987). Low mus-
calculated from the projected birth date, or cle tone is particularly evident in the infant
estimated date of confinement (EDC). This born before 28 weeks’ gestation; it gradually
can be obtained using the Nägele rule: Add improves with advancing gestational age, start-
7 days and subtract 3 months from the date ing with the legs and moving up to the arms
of the last menstrual period. The accuracy of by 32 weeks’ gestational age. Thus, although
menstrual dating, however, is quite variable, the premature infant lies in a floppy, extended
especially in anticipated preterm deliveries. In position, the full-term infant rests in a semi-
most cases, uterine size is an accurate predic- flexed position. As flexion tone improves over
tor of gestational age and can be measured by the weeks after birth, increased joint mobility
clinical and ultrasound examination. Another disappears. Finally, as compared with the full-
way of estimating gestational age is by noting term infant, the premature infant may appear
when fetal activity first develops. Quickening is behaviorally passive and disorganized in the
first felt by the mother at approximately 16–18 first weeks of life (Mandrich, Simons, Ritchie,
weeks’ gestation. Fetal heart sounds can be first Schmidt, & Mullet, 1994).
detected at approximately 10–12 weeks by ultra-
sound and at 20 weeks by fetoscope (similar to Incidence of Preterm Births
a stethoscope). Following birth, gestational
age can be assessed using a clinical scoring sys- Preterm birth occurs in about 13% of all preg-
tem called the modified Dubowitz examination nancies worldwide. While this represents a
(discussed next). Another technique allows for minority of pregnancies, it is responsible for
estimating the degree of prematurity by examin- the majority of neonatal deaths and nearly one
ing the maturity of the lens of the eye in the first half of all cases of neonatal-onset neurodevel-
24–48 hours of life (Nagpal, Kumar, & Ramji, opmental disabilities, including cerebral palsy
(Nelson, 2008). The risk is highest in infants Causes of Premature Birth

born before 32 weeks’ gestation, represent-
ing 2% of all births. The incidence of preterm The rise in reported rates of preterm deliv-
births has declined by 1% since 2006, but over- ery is certainly a cause for concern and has
all has risen 16% since 1990; furthermore, pre- been attributed to many co-factors including:
term births occur twice as frequently in African increased obstetric intervention (e.g., Cesar-
Americans as in Caucasians. Of LBW infants ean sections), use of assisted reproduction
weighing less than 2,500 grams, 70% are pre- techniques (e.g., in vitro fertilizations), high
term and 30% are full-term infants who are number of multiple pregnancies from fertility
SGA (Heron et al., 2010). drugs, increased prevalence of substance abuse
Figure 7.2. Scoring system to assess newborn infants. The score for each of the neuromuscular and physical signs is added
together to obtain a score called the “total maturity score.” Gestational age is determined from this score. (This figure was
published in Journal of Pediatrics, 119, 418, Ballard, J.L., Khoury, J.C., Wedig, K., et al. New Ballard score, expanded to include
extremely premature infants, Copyright Elsevier, 1991; reprinted by permission.)
result is a significant risk of complications in

virtually every organ system in the body. This
risk increases with the degree of prematurity.
Respiratory Problems
Respiratory problems are one of the most com-
mon and potentially life threatening problems
for premature infants born before 34 weeks.
These problems result from the immaturity
of the fetal lungs and the lack of production of
surfactin. We will discuss the acute respiratory
issue of hyaline membrane disease as well as the
potential long-term consequences leading to
bronchoplulmonary dysplasia.
Hyaline Membrane Disease

Hyaline membrane disease (HMD), also called
respiratory distress syndrome (RDS), is a disor-
der characterized by respiratory distress in the
Figure 7.3. Typical physical features of a premature infant. newborn period. The underlying abnormal-
ity is decreased production of surfactant that
in urban areas, a rise in idiopathic preterm normally keeps the alveoli (the terminal air-
delivery rates due to the adverse effect of low way passages) stable, permitting the exchange
socioeconomic factors, and maternal educa- of oxygen and carbon dioxide (Figure 7.4). A
tional level (Morgen, Bjork, & Andersen, 2008; chest x ray can clinically confirm HMD, show-
Shah, 2010). Other common causes of preterm ing a “ground glass” appearance of the lungs.
delivery are maternal infections and adolescent This results from the collapsed alveoli appear-
pregnancies, conditions that often co-occur. ing dense and hazy in comparison with the air-
Although less than 3% of all pregnancies occur filled lung of a typical full-term newborn, which
in adolescents, these pregnancies account for appears translucent and black (Figure 7.5). The
14%–18% of all preterm births. Maternal age clinical course of HMD involves peak severity
under 18 years is a major risk factor for compli- between 24 and 48 hours after birth, followed
cations in both mothers and neonates, especially by improvement over the next 24–48 hours. In
in mothers aged younger than 15 years (Najati uncomplicated cases, HMD will resolve within
& Gojazadeh 2010). In addition, up to 80% of 72–96 hours after birth. This classical course
early preterm births (births before 30 weeks’ of HMD has fortunately been modified by the
gestation) are associated with an intrauterine administration of exogenous surfactant replace-
infection that precedes the rupture of mem- ment (Wirbelauer & Speer, 2009). Improve-
branes (Klein & Gibbs, 2005). Other risk fac- ment in pulmonary function usually begins
tors include inadequate prenatal care, poverty, within minutes after the first dose of surfactant
acute and chronic maternal illness, multiple- is injected through the trachea, and after one or
gestation births, history of previous premature two doses of surfactant, effective gas exchange
pregnancies, placental bleeding, preeclampsia, can be achieved with a significantly lower level
smoking, and substance abuse (Morgen et al., of oxygen and ventilatory support. Except in
2008). Congenital anomalies or injuries to the severe cases of HMD, it is unusual for an infant
fetus may also lead to premature birth. Certain to require more than two doses of surfactant.
fetal conditions such as Rh incompatibility and Infants with mild HMD generally do well
poor fetal growth may require early delivery. with supplemental oxygen alone or in com-
bination with continuous positive airway
Complications of Prematurity pressure (CPAP). CPAP involves providing
a mixture of oxygen and air under continuous
The premature infant must undergo the same pressure; this prevents the alveoli from collaps-
physiologic transitions to extrauterine life as ing between breaths. More severely affected
the full-term infant (see Chapter 6). The pre- infants may require the placement of an endo-
term infant, however, must accomplish this dif- tracheal tube for mechanical ventilatory sup-
ficult task using immature body organs. The port as well as administration of exogenous
Figure 7.4. Schematic drawing of alveoli in a normal newborn and in a premature infant with respiratory distress syndrome
(RDS). Note that the inflated alveolus is kept open by surfactant. Oxygen (O2) moves from the alveolus to the red blood cells in
the pulmonary capillary. Carbon dioxide (CO2) moves in the opposite direction. This exchange is much less efficient when the
alveolus is collapsed; the result is hypoxia.
surfactant. Although surfactant therapy has 28 days postnatal age and/or corrected gesta-
significantly reduced mortality in ELBW pre- tional age of 36 weeks and who have persistently
mature infants, there has been no appreciable abnormal chest x rays and respiratory examina-
change in long-term pulmonary and neuro- tions (e.g., rapid breathing, wheezing). BPD pri-
developmental complications in these infants marily occurs in infants who are born at less than
(Patrianakos-Hoobler et al., 2010). Therefore, 32 weeks’ gestation and require mechanical ven-
close follow up to school entry is important. tilation during the first week of life for treatment
A related approach to treating surfactant of HMD. Although the frequency of BPD in
deficiency is to stimulate its production. There VLBW neonates is high, in the majority of cases
is evidence that administration of steroids to the disease is mild. Severe BPD is more common
mothers 24–36 hours before delivery stimu- in neonates with associated comorbidities such
lates surfactant production and pulmonary as late-onset sepsis or advanced intraventricular
maturation in the fetus. This lessens the like- hemorrhage (Walsh et al., 2005; Woynarowska,
lihood and/or severity of HMD. The effect of Rutkowska, & Szamotulska, 2008).
antenatal steroids is additive to postnatal sur- The development of BPD has been attrib-
factant replacement therapy in reducing respi- uted to lung injury from a combination of
ratory distress and mortality. It is therefore barotrauma (pressure damage from prolonged
recommended that steroids be given prior to mechanical ventilation), oxygen toxicity, infec-
birth for potential preterm delivery of fetuses tion, and inflammation; the exact mechanism
between 24 and 34 weeks’ gestational age (NIH of BPD remains poorly understood. Since
Consensus Development Panel on the Effect of the 1970s, newer methods of respiratory sup-
Corticosteroids for Fetal Maturation on Peri- port, including high-frequency ventilation and
natal Outcomes, 1995). surfactant therapy, have increased the survival
rate of smaller and less mature infants, but the
Bronchopulmonary Dysplasia total number of infants who develop BPD has
not decreased. BPD remains the most com-
The improved survival of ELBW newborns has mon chronic lung disease of infancy in the
increased the number of infants at risk for various United States, with some 7,000 new cases
forms of respiratory morbidity associated with being diagnosed each year. Long-term studies
mechanical ventilation, including bronchopul- of pulmonary function in this population indi-
monary dysplasia (BPD). This term is generally cate that as these infants grow, there is clinical
used to describe infants who require supplemen- improvement. Children with mild BPD exhibit
tal oxygen and/or mechanical ventilation beyond impairments in respiratory mechanics and lung
Figure 7.5. Chest x rays of a normal newborn (left) and of a premature infant with respiratory distress syndrome (RDS; right),
which shows a “white out” of the lungs due to surfactant deficiency.
structure. The widespread involvement of the increased risk of developmental disabilities

peripheral airways suggests that all children (Valleur-Masson et al., 1993).
diagnosed with BPD are potentially at risk of
developing chronic obstructive pulmonary dis- Neurologic Problems
ease later in life. As a result, abnormalities in Premature infants are also at increased risk
airway resistance and pulmonary compliance for neurologic problems that are often linked
persist into adulthood, resulting in a high risk to their respiratory problems. These problems
of reactive airway disease (RAD) or asthma include bleeding into the brain (intraventricu-
(Broström et al., 2010). lar hemorrhage), damage to the white matter of
Approaches to postnatal prevention and the brain (periventricular leukomalicia), dam-
treatment of BPD have included steroid therapy, age to hearing from antibiotic use, and periods
supplemental vitamin A, high-frequency venti- of respiratory arrest and heart slowing (apnea
lation, use of bronchodilators (asthma medica- and bradycardia).
tion), and administration of diuretics to increase
urinary excretion of excessive lung fluids. The Intraventricular Hemorrhage
use of postnatal steroid medication such as dexa- Intraventricular hemorrhage (IVH), defined as
methasone (Decadron) for prevention and treat- bleeding into the ventricular space within the
ment of BPD has been a matter of controversy. brain hemispheres, is an important neurologi-
Although early postnatal corticosteroid treat- cal complication of extremely premature infants.
ment facilitates extubation and reduces the risk The risk of IVH correlates directly with the
of BPD, it can cause short-term adverse effects degree of prematurity. Fortunately, its incidence
including gastrointestinal bleeding, intesti- appears to be declining. About half of IVH cases
nal perforation, hyperglycemia, hypertension, occur during the first day of life, and 90% occur
hypertrophic cardiomyopathy, and growth fail- by the third day of life (Bassan, 2009; Owens,
ure. There is also the potential for steroids hav- 2005). Ultrasound of the head is the most reli-
ing long-term effects on physical growth and able and safest technique for diagnosis of IVH.
neurodevelopment. Long-term follow-up stud- The American Academy of Neurology Practice
ies report an increased risk of abnormal neuro- Parameter for “Neuroimaging of the Neonate”
logical examination and cerebral palsy (Halliday, suggests that an initial screening ultrasound
Ehrenkranz, & Doyle, 2009). shortly after birth be performed on all pre-
It is not unusual for infants with BPD to term neonates of <30 weeks’ gestation to detect
require prolonged support with supplemental signs of IVH. In addition, they recommend a
oxygen, diuretics, and bronchodilators after follow-up ultrasound at 36–40 weeks postmen-
discharge from the hospital. Even with support- strual age in order to detect CNS lesions such
ive care and treatment, infants with BPD may as periventricular leukomalacia and ventriculo-
continue to have long-term problems, includ- megaly, which will affect long-term outcomes
ing limited tolerance of physical activity, feed- (Ment et al., 2002; Vassilyadi, Tataryn, Shamji,
ing difficulties that contribute to poor physical & Ventureyra, 2009). Magnetic resonance imag-
growth, excessive caloric requirement, and an ing (MRI) is better than ultrasound at detecting
white matter abnormalities, hemorrhagic lesions, fluctuations in cerebral blood pressure during
and cysts. Emerging data are providing evidence this period. There is also evidence that maternal
for the importance of this imaging modality at infection involving the membranes surround-
term-equivalent as a predictor of neurological ing the fetus (chorioamnionitis) increases the
outcome in VLBW preterm infants (El-Dib, risk of PVL. (Blumenthal, 2004; Volpe, 2001).
Massaro, Buas, & Aly, 2010). PVL has been reported to occur in 4%–15%
IVH is commonly graded by severity into of premature infants (Perlman, Risser, & Bro-
four levels (Volpe, 2008). Grade I is defined yles, 1996). It may occur in association with IVH
by bleeding into the germinal matrix, a net- or independently (Figure 7.6). The diagnosis of
work of blood vessels in the roof of the lateral PVL is best made by serial cranial (head) ultra-
ventricles. If the hemorrhage expands beyond sounds that may show the development of cystic
the germinal matrix into the ventricular sys- lesions in the white matter. Serial cranial ultra-
tem, it is Grade II. Grades I and II account sounds or an MRI at near term gestation or at
for the majority of IVH cases, and significant term-equivalent gestation in VLBW neonates
neurological impairment is fortunately rare also have been shown to be important predictors
with these types. About 20% of hemorrhages, of the subsequent development of spastic diple-
however, are severe enough to dilate the ven- gia (a form of cerebral palsy that impairs lower
tricle (Grade III) or invade the brain substance extremity function) and hemiplegia (a form of
(Grade IV). Grade IV is often called periventric- cerebral palsy that affects one side of the body;
ular hemorrhagic infarction. These hemorrhages Mirmiran et al., 2004; see Chapter 24). Large
can lead to periventricular leukomalacia (PVL), cysts (greater than 3 millimeters in diameter)
or damage of the white matter surrounding the place the neonate at increased risk of developing
ventricles (Volpe, 2008). The long-term neuro- spastic quadriplegia (a form of cerebral palsy
logical outcome for infants with IVH is related that affects all four limbs), visual impairment,
to the severity of the hemorrhage. Cerebral intellectual disability, and seizures in early child-
palsy (with or without intellectual disability) is hood (Okumura et al., 2003).
seen in 30% of patients with Grade III hem-
orrhages and in 75% of those with Grade IV Auditory Toxicity
hemorrhages (Pleacher, Vohr, Katz, Ment, & ELBW infants are at increased risk for hearing
Allan, 2004; Sarkar, Bhagat, Dechert, Schum- loss because of multisystem illness and the fre-
acher, & Donn, 2009). quent use of medications, such as aminoglyco-
Avoidance of hypoxic–ischemic events that side antibiotics and diuretics, that can be toxic
lead to fluctuations in cerebral blood pressure, to the auditory system. The overall prevalence
expert delivery room stabilization, effective of sensorineural hearing impairment is about 4
resuscitation and ventilation, gentle handling, per 10,000 in full-term infants. This increases
and use of muscle relaxants during mechani- to 13 per 10,000 in LBW infants and to 51
cal ventilation have all been associated with a per 10,000 among VLBW infants (Robertson,
reduction in the incidence and severity of IVH Howarth, Bork, & Dinu, 2009; Van Naarden
(Volpe, 2008). A number of medications have & Decoufle, 1999). In 1995, the Joint Com-
been studied for preventing or treating IVH, mittee on Infant Hearing recommended that
with varied results. These include antenatal use all VLBW infants undergo auditory screening.
of steroids and postnatal use of phenobarbital, The committee further expanded this state-
vitamin K, vitamin E, indomethacin, ethamsyl- ment in 2000 to advocate testing for all new-
ate, ibuprofen, and recombinant activated fac- borns. The most commonly performed tests are
tor VIIa (McCrea & Ment 2008). brainstem auditory evoked response (BAER)
and otoacoustic emission (OAE; Ohl, Dorn-
Periventricular Leukomalacia ier, Czajka, Chobaut, & Tavernier, 2009).
The periventricular white matter is the region
of the brain closest to the ventricles. PVL Apnea and Bradycardia
results when this area sustains damage either Apnea is clinically defined as a respiratory
due to low oxygen or low blood flow. This area pause lasting 15–20 seconds, associated with a
is especially vulnerable to injury in the pre- decrease in heart rate to below 80–100 beats
mature infant. This is because the glial cells, per minute. It is the most common disorder of
a major constituent of white matter, undergo respiratory control found in the neonatal inten-
rapid growth by the end of the second trimes- sive care unit (NICU) and is related to imma-
ter and are more susceptible to injury caused by turity of the central nervous system. About
10% of all LBW infants and more than 40% of incidence of apnea and decrease the risk of bron-
VLBW infants experience clinically significant chopulmonary dysplasia, patent ductus arte-
apnea (Baird, 2004). riosus, and subsequent development of cerebral
Apnea of prematurity (AOP) remains a palsy (Moriette, Lescure, El Ayoubi, & Lopez,
major clinical problem and requires the neona- 2010; Pillekamp, Hermann, von Gontard, Kribs,
tologist to make treatment choices, which are & Roth, 2007).
sometimes difficult. AOP occurs in most infants
of gestational age less than 33 weeks (Abu- Sudden Infant Death Syndrome
Shaweesh & Martin, 2008). It is a developmen- Sudden infant death syndrome (SIDS) occurs
tal disorder that usually reflects a physiological more than twice as frequently in premature
immaturity of brain control of respiration. How- infants as in full-term infants, usually between
ever, neonatal diseases may be associated with 2 and 5 months of life (Kinney & Thach,
AOP and play an additive role, resulting in an 2009; Mitchell, 2009; Ostfeld, Esposito, Perl,
increased incidence of apnea. Careful screen- & Hegyi, 2010). Contrary to earlier beliefs,
ing should therefore be performed in order to apnea of prematurity is not a major predispos-
make sure that no factor other than immaturity ing factor for SIDS. However, because of the
is involved in the occurrence of apnea. Short increased incidence of SIDS among this popu-
apnea (less than 10 seconds, without bradycar- lation, extremely premature infants who are
dia and/or desaturation) is not clinically relevant. having significant apneic spells in the 2 weeks
Prolonged apnea is defined as lasting for more before discharge may be sent home with an
than 15 or 20 seconds and/or is associated with apnea monitor (Committee on Fetus and New-
bradycardia or oxygen desaturation. Prolonged born, American Academy of Pediatrics, 2003).
apnea results in short-term disturbances of cere- Although these monitors emit an alarm if the
bral hemodynamics and oxygenation, which infant stops breathing and alerts the parents to
may negatively affect neurodevelopmental out- intervene, studies on their use have not shown
come. Treatment involves the administration of effectiveness in reducing the occurrence of
caffeine, which has been shown to reduce the SIDS. The monitors do, however, provide
Figure 7.6. Periventricular leukomalacia (PVL). A) The blood vessel supply to the brain, and B) the brain structures.
The area of the white matter surrounding the lateral ventricle (particularly the top part) is especially susceptible to
hypoxic-ischemic damage because it is not well supplied by blood vessels. It lies in a watershed area between the
anterior, middle, and posterior cerebral arteries. In premature infants, poor oxygenation and decreased blood flow
associated with respiratory distress syndrome (RDS) may lead to necrosis of this brain tissue, a condition termed
periventricular leukomalacia. When the posterior portion is affected, the optic radiations may be damaged, resulting
in cortical blindness.
reassurance to parents and physicians about the to oral feeds (Premji & Chessell, 2001). The
status of the infant. Parents of such high-risk nutritional needs of the premature infant are
infants should be trained in neonatal CPR prior also different from those of the full-term infant
to taking their infant home on an apnea moni- and thus require the use of specialty formulas.
tor. The monitor is generally not required for In addition to physiological problems, prema-
more than a few months. ture infants are at increased risk for two major
In 1992, in an effort to prevent SIDS, the gastrointestinal disorders—necrotizing entero-
American Academy of Pediatrics’ Task Force colitis (NEC) and gastroesophageal reflux
on Infant Position and SIDS, began recom- disease (GERD)—that can inhibit growth and
mending that infants be placed on their back be life threatening.
for sleep. In addition, the Task Force recom-
mended that fluffy blankets and toys not be Necrotizing Enterocolitis
placed in an infant’s crib during sleep times NEC is the most commonly acquired life-
and that the home environment be smoke free. threatening intestinal disease in premature
These changes have resulted in a 40% reduc- infants (Bradshaw, 2009; Henry & Moss, 2009;
tion in the incidence of SIDS (Gibson, Dem- Thompson & Bizzarro, 2008). It involves
bofsky, Rubin, & Greenspan, 2000). severe injury to a portion of the bowel wall. The
exact cause of NEC is unknown, but prematu-
Cardiovascular Problems rity appears to be the most common predispos-
ing factor. Approximately 80% of infants with
The most common cardiovascular problem in
NEC are born at less than 38 weeks’ gestation
LBW infants is a patent ductus arteriosus
and weigh less than 2,500 grams at birth. Other
(PDA). The ductus arteriosus is the fetal ves-
predisposing factors include fetal distress,
sel that diverts blood flow from the lungs. It
premature rupture of membranes, low Apgar
normally closes at birth, allowing blood to flow
scores, and exchange transfusion (where blood
to the lungs and be oxygenated. About 30%
is gradually removed from the newborn and
of all premature infants, and more than 50%
replaced with matched adult blood to treat Rh
of those born weighing less than 1,000 grams,
incompatibility). The incidence of NEC is 1–2
will have a patent (open) ductus arteriosus diag-
per 1,000 live births, and the overall mortality
nosed during the first few days of life (Hamrick
rate for infants with NEC is 20%. The mortal-
& Hansmann, 2010). This is especially true in
ity rate of ELBW infants with NEC, however,
premature infants who have RDS. In these chil-
is greater than 40% (Snyder et al., 1997).
dren, a PDA will divert blood from the lungs
Medical management of NEC involves
and further decrease oxygenation to the body
withholding feedings, applying nasogastric suc-
and brain, increasing the work of the heart.
tion to decrease pressure on the bowel wall,
This can lead to hypoxia, decreased blood flow
administering antibiotics to fight the suspected
to specific organs, and heart failure. The pres-
underlying infection, and providing intravenous
ence of a PDA can be detected by echocardiog-
fluids and nutrition to prevent dehydration
raphy, a form of ultrasound of the heart. Its
and weight loss. Although medical treatment
management involves medical and supportive
can be successful in many infants with NEC,
measures, including fluid restriction, diuresis
approximately half require surgery to remove
(stimulation of urination), and the use of CPAP.
the diseased section of the bowel (Chandler &
If these measures fail, closure is possible using
Hebra, 2000). Survivors of NEC may experi-
medications such as indomethacin or ibupro-
ence a variety of postoperative complications
fen. In a small percentage of infants, surgi-
related to the disease, the operation, or treat-
cal closure is required (Noori, 2010; Ohlsson,
ment measures. For example, surgery for NEC
Walia, & Shah, 2010).
is the leading cause of short bowel syndrome in
infancy (Horwitz et al., 1995). The removal of
Gastrointestinal Problems a large portion of the bowel leads to decreased
Although premature infants may be born with absorption of nutrients. This occurs in up to
a suck-and-swallow response, it is immature 11% of postsurgical NEC survivors and results
and poorly coordinated until approximately in chronic diarrhea, malabsorption, nutritional
32 to 34 weeks’ gestation. Thus, most prema- deficiencies, impaired growth, and the long-
ture infants require nasogastric or nasojejunal term need for intravenous nutrition (e.g., fats,
tube feedings until they can make the transition carbohydrates, amino acids).
Gastroesophageal Reflux Disease premature infant at increased risk for brain

The immaturity of gastric sphincter muscu- damage.
lar control and delayed stomach emptying in Acidosis and hypoxia, resulting from inad-
premature infants may result in GERD, a syn- equate respiration, can increase the perme-
drome in which the contents of the stomach are ability of the blood–brain barrier to bilirubin,
regurgitated back into the esophagus (Birch making preterm infants more susceptible to
& Newell, 2009). Infants with severe GERD kernicterus. Thus, the bilirubin level that is
are at increased risk for vomiting and aspira- used to determine whether phototherapy or
tion pneumonia (a lung infection precipitated an exchange transfusion should be performed
by the aspiration of food into the lung), which is lower for the preterm infant than for the
may be worsened by nasogastric tube feedings. full-term infant (Watchko & Maisels, 2010).
Signs of GERD include refusal of oral feeding, Glucose and electrolyte instability are also
apnea, irritability, and back arching. Treatment common in premature infants, especially the
is targeted toward special positioning tech- micropreemie.
niques and medications (see Chapter 9). Anemia is also more of a problem for the
premature infant than for the full-term infant
Ophthalmologic Problems because it decreases the oxygen-carrying
capacity of the red blood cells and can lead
Abnormalities in retinal vascular development
to hypoxic–ischemic brain damage. Preterm
after preterm birth lead to retinopathy of pre-
infants, especially ELBW infants, are exposed
maturity (ROP), formerly called retrolental
to frequent blood draws as part of their care in
fibroplasia. ELBW infants are at the greatest
the NICU. ELBW infants develop anemia of
risk for developing ROP (Askin &Diehl-Jones
prematurity due to inadequate production of
2009; Sylvester, 2008). A pediatric ophthalmol-
erythropoietin. In severe cases (based on indica-
ogist should perform an examination for early
tions and guidelines that are relatively nonspe-
detection of ROP at 4–6 weeks after birth or at
cific: hematocrit/hemoglobin levels, ventilation
32–33 weeks’ gestation (whichever comes first).
and oxygen need, apneas, bradycardias, and
Follow-up examinations should be done until
poor weight gain), anemia of prematurity is cor-
retinal vascularization is complete, around term
rected with blood transfusion and/or treatment
gestation (see Chapter 11). Preventive therapy
with erythropoietin to stimulate the bone mar-
with early human milk feeding and vitamins A
row to produce red blood cells (Bishara & Ohls,
and E supplements may decrease the severity of
2009). In recent years, studies evaluating trans-
ROP in susceptible infants (Porcelli & Weaver,
fusion guidelines have shown that changes in
2010). Severe ROP is treated by laser to prevent
transfusion practices have significantly reduced
permanent retinal detachment.
the need for transfusion in the LBW prema-
Immunologic Problems ture infant and reduced the need for erythro-
poietin (which is very costly and does not affect
The premature infant is born with an imma-
the transfusion requirement) in ELBW infants
ture immune system. As a result, the infant is at
(Bishara & Ohls, 2009).
increased risk for infection in the first months of
Finally, premature infants often have a
life (Klein & Gibbs, 2005). Generalized bacte-
transient deficiency of thyroid hormone pro-
rial and fungal infections, occurring in approxi-
duction. In severe cases, this condition may be
mately 30% of extremely premature infants, are
associated with neurodevelopmental impair-
major life-threatening illnesses and can lead to
ments. However, in most cases, the transient
a poor neurodevelopmental outcome (Wheater
hypothyroidism resolves without the need for
& Renie, 2000). Premature infants who remain
thyroid hormone replacement therapy and
in the hospital for prolonged periods should
does not negatively impact long-term outcomes
receive routine immunizations based on their
(Fisher, 2008).
chronological age.
Other Physiologic Abnormalities Medical and

Premature infants are at increased risk for many Developmental Care
of the same transient physiological abnormali- of Low Birth Weight Infants
ties that occur in full-term infants (see Chapter
6). These include hyperbilirubinemia, anemia, The best treatment for LBW infants is preven-
hypoglycemia, hyperglycemia, hypocalcemia, tion of preterm births. This starts with identi-
and hypothermia. These problems place the fying women at risk and providing them with
education and prenatal health care. In addi- Research is ongoing to determine whether this
tion, detecting preterm labor early and using approach carries long-term benefits.
labor-arresting agents and antenatal steroid In addition to environmental modifica-
therapy are very effective methods for prevent- tions that support development, early interven-
ing neonatal mortality and morbidity (Mwansa- tion services can be provided even before the
Kambafwile, Cousens, Hansen, & Lawn, 2010). child is discharged from the NICU. Once the
Prenatal care has improved appreciably since infant is medically stable, a team consisting of a
the 1970s, but the incidence of preterm delivery physical and/or occupational therapist, speech
remains high and might even be rising (Heron pathologist, developmental psychologist, and/
et al., 2010). Preterm and SGA infants are best or developmental pediatrician should evalu-
managed and cared for in high-risk obstetrical ate the child. Care plans should be developed
centers with NICUs. to provide parents with training regarding the
Unfortunately increased survival rate of ongoing developmental needs of the child after
preterm infants has been associated with an discharge. This may also include referral to an
increased risk of significant neurodevelopmen- early intervention program (see Chapter 30).
tal impairment (Wilson-Costello, Friedman,
Minich, Fanaroff, & Hack, 2005). As survival
rates of preterm infants have improved, the
Survival of Low
focus of care is now including a consideration Birth Weight Infants
of the optimal environment within the NICU Advances in the technology of newborn inten-
for the premature infant to develop. Traditional sive care and their application to the premature
NICU care has focused on medical protocols infant have been very successful in reducing
and procedures. A newer approach uses a more mortality. Since 1960, survival of LBW infants
relationship-based, individualized, develop- has increased from 50% to more than 90%
mentally supportive model. This approach (Table 7.1). This improvement has been even
recognizes that the usual NICU setting is not more remarkable in ELBW and micropremie
optimal for the premature infant’s developmen- infants; in one study comparing the 1980s with
tal progress. Typical NICU care has involved the 1990s, the survival among preterm infants
the infant experiencing prolonged diffuse sleep born with birth weight of 500 to 999 grams has
states, unattended crying, a high ambient noise increased from 49% to 67% (Wilson-Costello
level, bright ambient light, a lack of opportu- et al., 2005). A more recent study has shown
nity for sucking, and poorly timed social and that ELBW infants who survive the first few
caregiving interactions. days have by far a much better chance of long-
The newer approach seeks to observe the term survival. Although the overall survival for
infant’s behavior and respond to it appropriately infants with birth weight <500 g was only 8%,
by providing individualized neurodevelopmen- those who lived through the first three days of
tal care and actively involving the parents in life had up to a 50% chance of survival. Infants
their infant’s care (Als et al., 2005). It involves in the 500- to 749-g birth weight category had
documenting infant behavior, including breath- an overall survival rate of 50%. That increased
ing pattern, color fluctuations, startles, posture, to 70% if they survived through the third day,
and sleep state. This then leads to caregiving and 80% by the end of the first week of life
suggestions and environmental modifications. (Mohamed, Nada, & Aly, 2010).
One of the techniques involving the parent is
termed “kangaroo care.” Once the premature
infant has reached physiologic stability and does
not require major respiratory support, he or she Table 7.1. Improvement in survival rates of prema-
is placed on the parent’s chest. Kangaroo care ture infants
(parent–infant skin-to-skin contact) improves Survival (%)
preterm growth, decreases hospital-acquired
Birth weight (g) 1960 1990 2004
infections, and may shorten hospital length of
stay (Aucott, Donohue, Atkins, & Allen, 2002). 500–750 10 30 50
These developmental approaches have 750–1,000 20 70 85
been associated with improved functioning in 1000–1,500 30 90 98
the NICU, including a reduced number of apnea 1500–2,000 50 90 >98
events, faster weight gain, improved oxygen- Sources: Emsley et al. (1998); O’Shea et al. (1997); O’Shea
ation, motor maturity, and state organization. et al. (1998); and Mohamed et al. (2010).
Care After Discharge a home environment that is free of smoke and

from the Hospital any other potential respiratory irritants such as
kerosene heaters, fresh paint, and people with
The medical cost of the hospitalization and respiratory-related viral illness; each of these
care of preterm infants who require prolonged factors plays a crucial role in causing subse-
NICU stays is extraordinarily high, often mea- quent respiratory illnesses or in exacerbating
sured in hundreds of thousands of dollars. the underlying lung disease.
Length of stay is a major factor in this cost; as a To prepare premature infants and their par-
result, many centers are developing care path- ents for the infant’s discharge, most centers provide
ways that allow the medical team to consider rooming-in services for the parents. This allows
earlier discharge than previously practiced for the parents to take over the care of their infant
stable premature infants. This new approach under the supervision of the NICU staff mem-
needs to be monitored closely to ensure that bers who determine whether there are unforeseen
earlier discharge does not compromise the problems. The parents also learn about the care of
health of infants and result in an increased risk their infant, thereby reducing the stress and anxi-
of readmission to the hospital for treatment of ety of taking a preterm infant home.
medical complications.
Clinical criteria for discharging preterm
LBW infants are based on the achievement of
Early Intervention Programs
sufficient weight and maturity of body organ Early intervention programs have been shown
function to ensure medical stability and con- to benefit the neurodevelopment of most
tinued growth in a home environment. This premature infants through 3–5 years of age,
generally involves the infant being able to although longer-term effects are still debated
feed well by mouth, continue to gain weight, (Koldewijn et al., 2009; Koldewijn et al., 2010;
maintain a stable body temperature outside of Spittle, Orton, Doyle, & Boyd, 2007). In a
an isolette, and no longer experience episodes recent study of children with birth weight less
of apnea and bradycardia. Most preterm LBW than 2 kilograms, there was no significant dif-
infants meet these eligibility criteria at a post- ference in Mental Developmental Index scores
conceptional age of 35–37 weeks. For ELBW at 3 years of age (after adjustment for maternal
infants, discharge at a postconceptional age of education) between children who receive early
37–42 weeks is a more realistic goal (Rawlings intervention services and those who do not;
& Scott, 1996). At the time of discharge, most however, there was a statistically significant
infants weigh between 1,800 and 2,000 grams benefit shown via full-scale IQ scores at 5 years.
(4–4½ pounds). With respect to motor outcomes, there were no
When premature infants are discharged, differences between the groups receiving ser-
parents may be faced with the stress and diffi- vices and those not receiving services (Nordhov
culty of caring for an infant with many special et al., 2010).
needs. The prolonged duration of hospitaliza- These programs should start for many
tion and separation from parents also may have premature infants prior to discharge from the
interfered with the usual parent–infant bond- hospital and continue until the child reaches 3
ing. Premature infants may be more irritable, years corrected age. Corrected age is calculated
cry more often, and have poorer sleep–wake by first determining how premature the child
cycles compared with full-term infants. Because was in weeks (subtract the child’s gestational
of an immature sucking pattern, premature age at birth from 40 weeks); then that number is
infants often require more frequent feedings. subtracted from the child’s current chronologi-
Specialized formula and/or breast milk supple- cal age. For example, a child born at 28 weeks
mentation with a human milk fortifier are now was 12 weeks early. To get the corrected age,
available to meet the caloric needs of premature 12 weeks (i.e., 3 months) should be subtracted
infants post discharge. from the child’s age. The corrected age of an
As a result of these stresses, it is impor- 8-month-old born at 28 weeks’ gestation is 5
tant to provide adequate support for the family months. This correction is generally done until
after discharge, including close medical super- 12–24 months chronological age.
vision and home care visits by nursing and/ The intervention strategy incorporates
or social work staff (Broedsgaard & Wagner, group meetings for parents, home visits, and
2005). Parental education regarding the needs after 24 months chronological age, attendance
of a growing preterm infant is extremely impor- at a multidisciplinary child development cen-
tant. Ideally the infant should be discharged to ter with a low teacher–infant ratio (1:3–1:4; see
Chapter 30). It is important to recognize that are at risk for lower levels of social competence,
even after completion of the early interven- and they are less adaptable, less regular in their
tion program, many of these children continue habits, less persistent, and more withdrawn.
to need special education services, including ADHD is also more common in this group
speech-language therapy, physical and/or occu- (Hack et al., 2004). Signs of ADHD may appear
pational therapy, special education, behavior as early as 2 years of age with hyperactivity
therapy, and treatment of emotional problems. and difficulty following verbal directions and
If these children do not receive these services, listening to a story. In addition, there may be
the benefits of early intervention may be lost behavior differences such as sleep disturbances,
over time (Guralnick, 2005). feeding difficulties, tantrums, or resistance to
limit setting (Gray, Indurkhya, & McCormick,
Neurodevelopmental 2004). Learning differences may be anticipated
in children whose language is delayed and who
Outcome
demonstrate poor visual–motor coordination
Most infants born prematurely can be viewed (Breslau, Paneth, & Lucia, 2004). Family factors
during infancy as developing at a typical rate have also been found to be strong predictors of
when their corrected or adjusted age is deter- future school performance (Gross, Mettelman,
mined from their expected date of birth rather Dye, & Slagle, 2001). Optimal school outcome
than from their actual birth date. There are, has been significantly associated with increased
however, differences between full-term and pre- parental education, child rearing by two par-
term infants, even when gestational age is taken ents, and stability in family composition and
into account. Although few premature infants geographic residence.
develop cerebral palsy, in terms of motor skills, Major developmental disabilities have been
they often lack the smooth, rhythmic move- found in about one quarter of children with
ment patterns of full-term infants. Devices birth weight less than 1,000 grams (ELBW and
such as walkers and jumpers should be avoided micropreemies). This includes cerebral palsy
because they encourage the infant to stand on (15%), hearing impairment (9%–11%), and
tiptoe and walk in an abnormal pattern. In later visual impairment (1%– 9%; Hack et al., 2000).
infancy, visual-motor tasks that require the At 18–22 months corrected age, the mean Bay-
planned use of arms and hands are also more ley Mental Developmental Index (Bayley, 1993)
difficult. Coordinating reach and grasp, scoop- was 75, and 29% of the children had a score
ing with a spoon, managing a standard cup, less than 70. Although cerebral palsy, especially
copying block constructions, and completing spastic diplegia, is not uncommon in children
crayon/paper tasks can be more difficult (Atkin- who were VLBW, many “outgrow” this diag-
son & Braddick, 2007). nosis by school age and simply appear to be less
By school age, the developmental status of coordinated or have motor-associated learning
preterm children who had birth weights above difficulties.
1,500 grams is not very different from full-term In terms of predicting future neurodevel-
infants (Gurka, LoCasale-Crouch, & Black- opmental disabilities, in one study, nearly 30%
man, 2010). Children with birth weights below of ELBW infants with a normal cranial ultra-
1,500 grams, however, have an increased risk for sound were later found to have either cerebral
developmental disabilities. School-age children palsy or intellectual disability (Laptook, O’Shea,
who were born very preterm or had ELBW are Shankaran, Bhaskar, & the NICHD Neonatal
at greater risk of developing executive function Network, 2005). Neonatal brain MRI at cor-
deficits (seen in ADHD, learning disabilities, rected term gestation and/or before discharge
and autism) and at greater risk of requiring appears to be a better predictor of severe neuro-
ongoing neuropsychological follow-up through developmental disorders (El-Dib et al., 2010).
middle childhood (Aarnoudse-Moens, Smidts, Sensorineural hearing impairments were cor-
Oosterlaan, Duivenvoorden, & Weisglas- related with neonatal sepsis and jaundice. Neu-
Kuperus, 2009; Aarnoudse-Moens, Weisglas- rological, developmental, neurosensory, and
Kuperus, van Goudoever, & Oosterlaan, 2009; functional morbidities increased with decreas-
Adams-Allan, 2008; Anderson & Doyle, 2008; ing birth weight, and overall, males were more
Delobel-Ayoub et al., 2009; Johnson et al., at risk for disabilities than were females. Infants
2010; Spittle et al., 2009; Stephens & Vohr, born SGA are at increased risk for lower cog-
2009; Wilson-Costello et al., 2007). In terms nitive performance as young adults. However,
of behavior issues, children born prematurely this lower capacity is not considered sufficiently
severe to affect their educational level or social Mental Retardation and Developmental Disabilities
adjustment (Paz et al., 1995; Viggedal, Lundalv, Research Review, 3, 298–308.
Baird, T.M. (2004). Clinical correlates, natural history
Carlsson, & Kjellmer, 2004). and outcome of neonatal apnoea. Seminars in Neona-
tology, 9, 205–211.
SUMMARY Ballard, J.L., Khoury, J.C., Wedig, K., Wang, L.,
Eilers-Walsman, B.L., & Lipp, R. (1991). New Bal-
When compared with full-term infants, LBW lard score, expanded to include extremely premature
infants. The Journal of Pediatrics, 119, 417–423.
infants—in particular, VLBW infants/micro- Bassan, H. (2009). Intracranial hemorrhage in the pre-
premies—are at greater risk in the newborn term infant: Understanding it, preventing it. Clinics
period for many problems that may lead to in Perinatology, 36(4), 737–62.
long-term complications. Physiologic imma- Bayley, N. (1993). Bayley Scales of Infant Development—
turity of organ systems often leads to RDS, Second Edition. San Antonio, TX: Harcourt Assess-
ment.
hyperbilirubinemia, hypoglycemia, and hypo- Birch, J.L., & Newell, S.J. (2009). Gastrooesophageal
calcemia. Fortunately, most of these infants reflux disease in preterm infants: Current manage-
recover from these transient complications ment and diagnostic dilemmas. Archives of Disease in
without major long-term sequelae. Other prob- Childhood: Fetal and Neonatal Edition, 94(5), F379–
F383.
lems, however, such as IVH, PVL, sepsis, and Bishara, N., & Ohls, R.K. (2009). Current controver-
persistent apnea and bradycardia are associ- sies in the management of the anemia of prematurity.
ated with poor neurodevelopmental outcome. Seminars in Perinatology, 33, 29–34.
With increased public awareness, improved Blumenthal, I. (2004). Periventricular leucomalacia: A
prenatal care, advanced neonatal intensive care, review. European Journal of Pediatrics, 163, 435–442.
Bottino, M., Cowett, R.M., & Sinclair, J.C. (2009).
increased parent involvement in the NICU, and Interventions for treatment of neonatal hyperglyce-
access to early intervention services, the out- mia in very low birth weight infants. Cochrane Data-
come of premature and SGA infants is likely to base System Review, 21(1), CD007453.
continue to improve. Bradshaw, W.T. (2009). Necrotizing enterocolitis: Eti-
ology, presentation, management, and outcomes.
Journal of Perinatal and Neonatal Nursing, 23(1),
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II
The
Developing Child
8 Nutrition and
Children with Disabilities
Rebecca M. Haesler and Jocelyn J. Mills

■ Understand nutritional requirements and their assessment in children
■ Identify how developmental disabilities modify nutritional requirements
■ Understand the fundamental role of nutrition in the growth and development
of children
■ Understand how nutritional interventions are included in children’s care plans
Nutrition is the study of foods, their nutrients, is actively growing. For children with develop-
and other components of the diet that affect mental disabilities, however, the need for medi-
biological processes and health (Brown, 2007). cal nutritional therapy may be lifelong. Medical
Human requirements for protein, fats, car- nutrition therapy is defined as the manipulation
bohydrates, vitamins, and minerals vary with of nutrients and dietary components to affect a
age, activity level, medical diagnosis, genetic disease or condition (American Dietetic Asso-
heritage, and physiological state (Institute of ciation, 2010). This therapy also takes into
Medicine, 2005). A typical diet provides all of account the psychosocial environment in which
the nutrients, minerals, and vitamins needed the child lives. Food selection and preparation
for typical growth and development. In chil- are major cultural characteristics of all societ-
dren with developmental disabilities, however, ies, and within the context of home and fam-
a typical diet may present challenges. As a result ily, providing and preparing food for children
of motor impairments, a child with cerebral expresses parental love and concern. This chap-
palsy may have difficulty ingesting sufficient ter focuses on the nutritional needs of children
food. A child with an autism spectrum disorder with developmental disabilities and emphasizes
(ASD) may have food selectivity that results in medical nutrition therapy as part of a compre-
nutritional deficiencies (see Chapter 21). Con- hensive care plan.
versely, a child with Prader-Willi syndrome
often engages in hyperphagia (pathological ■ ■ ■ ALYSSA
overeating), and a child with meningomyelo-
coele may become obese through inactivity. Alyssa’s parents were notified at 7 days of age
Typically, the impact of nutrition is greatest that she had an abnormal blood test, specifically
during infancy and childhood when the body an abnormal newborn screening test. She was
107
108 Haesler and Mills
examined in the metabolism clinic of the local encouraged to let Alyssa attend a PKU camp
children’s hospital, where studies confirmed the following summer when she was to be 10
the diagnosis of phenylketonuria (PKU), and years old so she could interact with peers chal-
her parents met with a geneticist and dietitian. lenged by the same issues.
The geneticist explained PKU, its genetics, and
laboratory test results (see Chapter 19). The par- TYPICAL GROWTH
ents came to understand that the basic problem DURING CHILDHOOD
in PKU was the inability to metabolize a spe-
cific essential amino acid, phenylalanine, one Nutritional requirements for infants and chil-
dren are determined by what is needed to pro-
of the building blocks of protein. The dietitian
duce optimal growth and development. The
explained that Alyssa would have a lifelong need
average full-term infant weighs 3.4 kilograms
to be on a special diet restricted in natural pro- (about 7½ pounds) at birth, and gains 20–30
tein and supplemented with a phenylalanine- grams (about 1 ounce) each day for several
free formula, which would allow her to meet her months. By 4–6 months of age, the infant’s
protein requirements. The parents learned how birth weight has doubled, and by 12 months, it
to measure the phenylalanine content in various has tripled (National Center for Health Statis-
foods. Each time Alyssa and her parents came tics, 2000; National Center for Health Statis-
into the metabolism clinic they would meet with tics, 2008a). As the child becomes more active,
the dietitian who would measure her growth, weight gain slows to about 5 pounds per year
review her diet, provide educational material, until approximately 9–10 years of age, when
the adolescent growth spurt begins. Length
answer their questions, and adjust her formula
advances at a slower pace than weight, increas-
and food intake as needed. As Alyssa began
ing by 50% during the first year of life (from
eating more solid foods, the dietitian educated an average of 50 centimeters or about 19½
the family on ways to vary the diet by incorpo- inches at birth), doubling by 4 years of age, and
rating low-protein versions of common food tripling by 13 years of age. Increase in head
items that could be ordered on the Internet. circumference parallels brain growth. Head
These specialty foods were initially developed circumference increases by 3 inches during the
for adults with kidney failure who also require first year of life, and brain weight doubles by 2
low-protein diets. By age 7, Alyssa was select- years of age (National Center for Health Sta-
ing most of her foods and was able to make her tistics, 2000; National Center for Health Sta-
formula without assistance. She was learning to tistics, 2008a).
In addition to the basic measures of growth
“own” the responsibility for her disorder.
(i.e., weight, length, head circumference), a
At age 9, her blood phenylalanine test
number of useful growth indices have been
results showed Alyssa was eating too much developed that provide a more nuanced and
“regular” food. She rebelled sometimes about clinically relevant way of measuring a child’s
finishing her phenylalanine-free formula. The nutritional status. Among these, the index used
dietitian recommended a lower-volume formula most often is the body mass index (BMI), a
so that Alyssa’s formula was more age-appropri- measure of the relationship between weight and
ate and easier to consume. It was also empha- stature (length) across ages that was developed
sized that low-protein food substitutes provide by the Centers for Disease Control and Preven-
greater variety and allow for a diet closely tion (CDC; National Center for Health Statis-
resembling that of her peers. Routine blood tics, 2010; Speiser et al., 2005; see Table 8.1).
By placing weight into the context of a child’s
phenylalanine test results were used by the
overall size and body habitus, the BMI can be a
dietitian to adjust the diet, along with growth
useful screening tool to assess whether a child is
measurements, Alyssa’s likes and dislikes, and over- or underweight. Direct measures of body
her parent’s concerns. Alyssa wanted to be just fat utilizing specialized equipment and tech-
like everyone else, and the geneticist, dietitian, niques are not as widely available but offer an
and family worked together to find solutions to even more accurate way of assessing this critical
Alyssa’s life on a strict diet. Her parents were aspect of a child’s nutritional status.
Nutrition and Children with Disabilities 109
NUTRITIONAL GUIDELINES the diet be reduced, eliminated, or enhanced to

avoid the build-up of toxic metabolites. Table
Research-based nutrition guidelines published 8.2 provides other examples of how specific
by the National Academies of Sciences estimate dietary components and calorie content can be
daily intake of specific vitamins and minerals manipulated to address the special needs of spe-
based on age and gender (Institute of Medi- cific medical conditions and disabilities (Isaacs
cine, 1997, 2001). Energy and protein intake & Zand, 2007).
recommendations were updated in 2005 (Insti-
tute of Medicine, 2005) and have been incor- NUTRITIONAL
porated into the nutrients included in food ISSUES IN CHILDREN WITH
labels. They are also reflected in the standard
DEVELOPMENTAL DISABILITIES
growth charts commonly used by health care
professionals (National Centers for Health Sta- Children with developmental disabilities have
tistics, 2000). The concept of a “balanced diet” many of the same nutrition problems as typi-
derives from standard nutritional guidelines, cally developing children. These include being
and is based on the notion that typical children over- or underweight, refusing to eat or drink
will require specific amounts and proportions a variety of foods and beverages, and fighting
of certain nutrients. Although these guidelines for control with parents at mealtimes. Children
are a good starting point for determining the with disabilities, however, are prone to more
nutrition requirements for children with dis- serious and varied problems that are especially
abilities, adjustments are often required. In related to impaired oral motor skills (e.g., swal-
some cases an apparently “unbalanced” diet lowing incoordination among children with
is appropriate for a child with a specific con- cerebral palsy), medical problems (e.g., chronic
dition. For example, a typical 10-year-old girl gastroesophageal reflux [GER] among children
who is active needs about 2,000 calories daily. who were premature infants), and food refusal
In contrast, a 10-year-old girl with meningo- (e.g., dislike of certain food textures among
myelocoele may need fewer calories daily due children with autism specrum disorders [ASDs];
to a below typical activity level, whereas a child Bandini et al., 2010; Marchand, Motil, & the
with choreoathetoid cerebral palsy may be North American Society for Pediatric Gastro-
more active and thus require more calories (Bell enterology, Hepatology, and Nutrition [NASP-
& Davies, 2010; Liusuwan, Widman, Abresch, GHAN] Committee on Nutrition, 2006). As a
Styne, & McDonald, 2007; see Chapter 24). result, common nutritional advice for typically
An all-liquid diet or a diet of only a few dif- developing children may not be appropriate
ferent foods may be recommended for a child for children with disabilities (see Table 8.3).
with limited oral-motor skills. For a child like Instead, diets must be targeted to specific con-
Alyssa with a special metabolic condition, it is ditions and developmental disabilities, as illus-
critically important that certain elements of trated in Table 8.2.
Table 8.1. Growth parameters and nutrition assessment

Growth parameter Utility in nutrition assessment
Weight for age (pounds or kilograms) Provides direct comparison to established norms for
age; key parameter for monitoring short- and long-
term changes in nutritional status
Length for age (inches or centimeters) Provides direct comparison to established norms for
age; key measure of linear growth
Head circumference for age (inches or centimeters) Provides direct comparison to established norms for
age; key proxy for brain growth
Weight-to-height proportionality Provides a rough estimate of nutritional status by
relating weight to stature; birth to 36 months of age
Body mass index (weight in pounds x 703 / height in Provides an estimate of body fat relative to weight
inches x height in inches) and height; >2 years of age
Rate of weight and length accretion (change in weight Precise method of tracking patterns and rates of
or length over a given time interval) growth
Body fat indices Direct measures of body fat using reliable, specialized
equipment and techniques
Obesity for increased energy and protein are commonly

Intake of food energy, or kilocalories (more observed in children with such conditions
commonly referred to simply as calories), is a as prematurity (Agostoni et al., 2010), cystic
critical aspect of nutrition, and disorders involv- fibrosis (Munck, 2010), choreoathetoid cere-
ing excess or insufficient energy intake are com- bral palsy (Bell & Davies, 2010), and Rett syn-
mon among children with disabilities (Bandini drome (Oddy et al., 2007). In these cases, the
et al., 2005). Obesity is caused by excessive goal of medical nutrition therapy is to provide
energy intake relative to energy expenditure extra calories and protein as food or nutritional
and is typically defined, using the CDC growth supplements.
chart, by a BMI greater than the 95th percen-
tile BMI for age. Obesity and overweight are When Disabilities Affect Stature
increasing worldwide, but controversy contin- Extra calories and nutrients may not normalize
ues about how to best assess the risks of obe- growth in many disabilities that are known to
sity in children and adolescents (Speiser et al., be associated with short stature, such as trans-
2005). BMI includes assumptions about stature location chromosomal disorders, Turner syn-
and body composition that may not apply to drome, Down syndrome, Williams syndrome,
children with disabilities. For example, scolio- chromosome 22q11 microdeletion syndromes
sis may interfere with accurate height measure- (e.g., Velocardiofacial syndrome, DiGeorge
ments, which in turn can affect the calculation syndrome), meningomyelocoele (Liusuwan,
of the BMI. Other disorders that may not be et al., 2007), chronic kidney disease (Mahan
well described by the BMI criteria are Prader- & Warady, 2006), and fetal alcohol syndrome
Willi syndrome, meningomyelocoele, and (FAS; Chudley et al., 2005). These short-stat-
Down syndrome (Bandini et al., 2005). ure syndromes are discussed in Appendix B.
Providing extra calories in these conditions
Undernutrition may simply result in obesity. To increase lin-
Concern about the adequacy of energy intake ear growth, could be treated with growth
is more common in children with disabilities hormone therapy in some of these conditions
than in typically developing children. Needs (Cohen et al., 2008). Diagnosis-specific growth
Table 8.2. Dietary adjustments for specific medical conditions and disabilities
Dietary element Condition Specific adjustment required
Fats Smith-Lemli-Opitz syndrome Cholesterol (purified form) increased
Long chain fatty acid oxidation Fat decreased, greater than 75% of nutrition
disorders from fat-free foods
Uncontrollable seizures Ketogenic diet, fat increased
Proteins Phenylketonuria, Maple syrup Natural protein decreased by more than
urine disease 80%, addition of protein substitutes, vita-
mins and minerals
Carbohydrates Glycogen storage disease Type 1 Specific types of sugar (e.g., sucrose, fruc-
tose, galactose, lactose) decreased
Galactosemia, lactose intolerance Specific types of sugar (e.g., galactose,
lactose) decreased
Hereditary fructose intolerance Specific types of sugar (e.g., fructose)
decreased
Vitamins and minerals Vitamin B12 disorders Vitamin B12 increased, often protein content
decreased
Iron-deficiency anemia Foods rich in iron increased or supplemental
iron added
Rickets Foods rich in calcium and vitamin D
increased or supplements added
Energy (calorie) Obesity and overweight Calories decreased 10%–30% (fats, proteins,
and carbohydrates), activity level increased
Hypotonia in Down syndrome or Calories decreased 30%–40% (fats, proteins,
Prader-Willi syndrome and carbohydrates)
reports are based on smaller population groups severe difficulty chewing and swallowing that
than the standard growth charts for typical chil- they may risk aspiration pneumonia as well as
dren (Arvay et al., 2005). They help set realis- undernutrition. In this case, nutritional ther-
tic expectations for growth after the diagnosis. apy might be directed at providing alternative
Conditions in which excess growth is unrelated routes for nutrition, such as gastrostomy tube
to nutritional intake also are known, including formula feedings (Bell et al., 2010).
genetic conditions such as Sotos syndrome, Children with ASDs may have severe and
Marfan syndrome, and types of gigantism that persistent restricted food preferences. However,
result from an overproduction of growth hor- a study by Emond, Emmet, Steer, and Golding
mone. Typically, an important measure of suf- in 2010, shows that while children with ASDs
ficient nutrition is adequate growth. Yet, many may have decreased variability in their diets,
developmental disabilities are associated with adequate energy intake is maintained, resulting
these atypical growth patterns. As a result, it in typical growth. Behavior management tech-
may be difficult to determine whether a child niques may be utilized to gradually add new
with a developmental disability who has appar- food items to the ASD child’s menu (see Chap-
ent inadequate growth is truly undernourished ter 21). Such techniques may involve rewards
(Marchand et al., 2006). for trying new foods or encouraging the child
to participate in food preparation.
When Disabilities Limit Eating Recognizing undernutrition and malnutri-
Children with developmental disabilities may tion may also be difficult because nutrient needs
lack an appetite or have physical difficulties in and activity levels of children with disabilities
eating. Mealtime, rather than being a pleasure, may be higher or lower than typical (Taylor &
becomes aversive for both the child and par- Rogers, 2005). For example, short stature is usu-
ents. It is thus imperative to identify the root ally not a sign of limited nutrition in children
causes of the feeding disorder and to design an with Turner syndrome (Cohen et al., 2008),
appropriate therapy program. A child unable to but it can reflect long-term inadequate nutri-
eat because of fatigue and weakness resulting tion in PKU (Williams, Mamotte, & Burnett,
from a neuromuscular disability merits a dif- 2008). Thin appearance is common in spastic
ferent approach than a child who refuses to eat quadriplegia (a severe form of cerebral palsy;
due to behavioral or cognitive issues. Children Motil 2010; see Chapter 24). Also, although
with dyskinetic cerebral palsy may have such short stature can result from undernutrition, it
Table 8.3. Common nutrition advice that may not apply to children with disabilities
How this advice may not
Common nutrition advice apply to children with disabilities
“If she won’t eat now, don’t worry; she will eat when The child may not respond to hunger cues.
she is hungry.” Hunger may be masked by fatigue, medications, or
specific medical conditions.
“Don’t worry. Others in the family are small.” Genetic and hereditary factors are important to
identify, but many “small” children with disabilities
are often undernourished due to lack of sufficient
intake.
“He’s just picky.” Behaviorally based feeding problems are common in
children with disabilities.
Some food refusals are key symptoms of an underly-
ing medical problem.
“He’s failing to thrive.” Many disabilities are associated with atypical growth
patterns (disability-specific growth charts allow for
more accurate interpretation of growth patterns).
“He eats the same foods all the time. He should eat a Monotonous self-restricted eating patterns are
variety of foods.” common in children with developmental disabili-
ties, especially those who have autism spectrum
disorders.
Some medical conditions (especially metabolic
disorders) require a limited range of food types to
prevent complications.
may instead result from muscle atrophy due to equated by the parents to providing love, emo-
central nervous system damage. With undernu- tional needs may be interfering with nutritional
trition, nutritional intake should be increased; requirements. If food is used as a behavioral
with muscle atrophy, added nutrition will add reinforcer, another equally effective reinforcer
fat but not improve muscle bulk and may con- may need to be identified.
tribute to obesity.
Nutrition Support for
MEDICAL NUTRITIONAL THERAPY Children Who Cannot Eat
Nutrition support provides nutrients at high
The overall goal of medical nutrition therapy enough levels to meet nutrition requirements
(MNT) is to improve a child’s health and nutri- when the child is unable to ingest food and drink
tional status while promoting a family’s enjoy- in the usual manner. It separates the delivery
ment of their child at mealtimes. Examples of of nutrients from the act of eating by provid-
positive outcomes include encouraging success ing complete nutritional supplements and
with self-feeding, meeting general nutritional nutrients enterally—that is, directly to the
needs, and correcting energy imbalances. gastrointestinal (GI) tract—or parenterally—
that is, directly into the blood stream. Enteral
Nutrition Assessment feeding involves a gastric tube or gastros-
and Nutrition Care Plan tomy placement surgery, resulting in feeding
The tools of MNT are the nutritional assess- directly into the stomach. Successful place-
ment and the nutritional care plan that is cus- ment not only improves nutrition but may
tomized to the needs of each child. A nutritional also decrease the family’s psychological stress
assessment usually answers the following three around feeding issues. When it is important
questions (Riddick-Grisham, 2004, p. 328): for feeding to bypass the GI tract, parenteral
1. Is the child being fed a diet that meets his or feeding is used. Usually parenteral feeding is
her nutritional requirements? administered in a hospital setting on a short-
2. Is the child growing as expected for his or her term basis (Carney, 2010).
age, gender, and condition? The most common developmental dis-
abilities that require nutrition support include
3. Is there a feeding or eating problem interfer-
ing with growth or with meeting nutritional cerebral palsy (spastic quadriplegia), progres-
requirements? sive neurologic disorders (e.g., Tay-Sachs
disease), uncontrolled seizures (e.g., Lennox-
The nutrition assessment is the first step
Gastaut syndrome), and certain inborn errors
in the process of documenting a child’s nutri-
of metabolism (Carney, 2010). Table 8.6 illus-
tional status. This involves the steps outlined
trates a sample dietary intake for a child with
in Table 8.4; the measurement and interpreta-
spastic quadriplegia. Although nutritional sup-
tion of growth parameters are defined in Table
port can correct the signs and symptoms of
8.1. If a child’s nutritional status is not optimal,
recommendations are made to improve the diet
and feeding or eating practices.
Table 8.4. Elements of a nutrition assessment
The nutrition care plan articulates these
recommendations and spells out monitoring Review the child’s medical history (including diag-
and follow-up needs. Table 8.5 shows common nosis, laboratory findings, medications used, and
developmental levels).
interventions in a nutrition care plan. In addi-
Assess and interpret the child’s growth parameters
tion to offering general dietary and feeding rec- (see Table 8.1).
ommendations, a well-developed nutrition care Obtain the child’s dietary history from caregivers
plan addresses the role of food in the family (including intake patterns for food and drink,
and in the family’s culture, including meal and portion sizes, meal duration, and use of supple-
snack patterns, food choices, and food prepara- ments).
tion. Take the example of a child with Down Analyze and interpret the dietary intake informa-
tion, based on the child’s age and gender, for
syndrome who is significantly overweight. If macronutrients (protein, fats, and carbohydrates),
obesity is a family problem, the weight loss micronutrients (vitamins and minerals), fluids, and
plan should involve changing the entire family’s other dietary components (e.g., dietary fiber);
eating patterns. If the family culture involves computer dietary analysis programs can be used.
ingesting fatty and fried foods, a plan should be Summarize impressions of the child’s nutritional
developed with the family to incorporate differ- status and the adequacy of his or her diet; make
recommendations and referrals.
ent cooking patterns. When providing food is
undernourishment, no special nutritional inter- for adults (Joeckel & Phillips, 2009). Protein-
ventions have been identified to correct the free or carbohydrate-free formulas employed in
short stature and low weight that is typical in inborn errors of metabolism entail additional
severe cerebral palsy (Krick et al., 1996). These arrangements (see Chapter 19). They are not
issues are discussed further in Chapter 24. used alone, as they create a nutritional defi-
ciency if not mixed with other formulas or foods
Nutrition Support Formulas (Isaacs & Zand, 2007). The goals of maintain-
A wide range of formulas are available as food ing regular foods in the diet and minimizing
replacements, food supplements, and nutrition reliance on complete nutritional supplements
support as described in Table 8.7. These differ are common for children with oral-motor feed-
from infant formulas in terms of energy con- ing problems such as Rett syndrome and certain
tent, osmolarity, and the level of supplemented forms of cerebral palsy (Marchand et al., 2006).
vitamins and minerals. Nutrition-support for-
mulas differ further from one another in spe- SPECIAL NUTRITIONAL CONCERNS
cific nutrients, caloric density, intended use,
IN CHILDREN WITH DISABILITIES
and mode of administration. Infants older than
1 year of age who require nutritional supple- Some of the nutritional concerns associated
mentation may be transitioned to pediatric with specific developmental disabilities are
formulas (intended for children up to 10 years listed in Table 8.8. In most cases, families of
old) that provide 30 calories per fluid ounce children with specialized diets benefit from the
(as compared with regular infant formulas that involvement of a registered dietitian, who can
provide 20 calories per fluid ounce). Children help monitor the diets and provide consultative
older than age 10 may use a formula intended support to schools and other agencies. Such
support assures appropriate implementation of
dietary recommendations.
Table 8.5. Sample interventions found in a nutri-
tion care plan Therapeutic Diets
Recommend meal and snack schedules or timing. Diets for inborn errors of metabolism, such
Counter side effects from medications (e.g., as PKU, and the ketogenic diet used in some
increased appetite, effect on taste). children with intractable epilepsy provide
Prevent overweight or underweight. examples of customized diets that differ in com-
Monitor planned weight gain, weight loss, or catch- position and goals. Both types of diet are simi-
up growth.
lar in requiring close monitoring and in causing
Apply specialty (disease-specific) growth charts for
growth assessment. behavior problems around food at home, in
Estimate fat stores and body composition for in- school, and at restaurants. Table 8.9 shows a
depth growth assessment. sample daily nutritional intake for a 10 year old
Analyze and interpret home intake diet record.
Modify diets for specific nutrients, such as low Table 8.6. Sample intake and feeding schedule
protein, high calorie, or low fat. for a child with a limited ability to eat by mouth and
Reinforce breast feeding, infant formula, or formula supplemented feedings via gastrostomy tube
preparation steps. 6:30 A.M. Stop night feeding pump
Select foods to address food texture problems or
avoid choking. 9:30 A.M. Oral snack at school: milk in a cup and
spoon-fed applesauce
Manage food refusals, food jags, or other food
behaviors. 11:45 A.M. School lunch: modified soft texture,
Demonstrate how to determine portion sizes and 30% self-feeding
measure foods. 1:00 P.M. Gastrostomy feeding of 8 fluid ounces
Order special formulas or supplements. of complete nutritional supplement
Reinforce signs of hunger, fullness, and right pace
3:30 P.M. After-school snack at home: self-fed
of eating or feeding.
cookie and milk in a cup
Document food insecurity and refer the family to
community nutrition programs. 6:00 P.M. Supper with family: mashed potato
Coordinate with other health care providers and with gravy on a spoon and juice in
educators. a cup
Complete referrals for WIC (Special Supplemen- 8:30 P.M. Start night feeding of 50 milliliters per
tal Nutrition Program for Women, Infants and hour complete nutritional supple-
Children), early intervention services, or other ment, providing 40% of daily calo-
providers. ries and 60% of daily protein intake
Table 8.7. Selected formulas for children with disabilities

Formulas and their components Use based on diagnosis or condition
Standard infant formulas; 20 calories per fluid ounce* Full-term newborns up to 1 year
Premature transitional formula; 22 calories per fluid Discharge formula for infants with birth weight of
ounce* <1800 grams, on limited volume intake or history of
osteoporosis or poor growth
Complete nutritional supplements (e.g., Pediasure, Meal or snack substitutes
Boost); 30 calories per fluid ounce* Increase calories
Ensure intake of specific nutrients (e.g., protein)
Formulas modified in the balance of nutrients; these Protein free: protein-restricted diets
are not used alone Carbohydrate restricted: ketogenic diet
Fat altered: diets for gastrointestinal disorders or long
chain fatty acid oxidation disorders
Specific amino acids removed: phenylketonuria
*Calories per fluid ounce can be adjusted based on a child’s needs
with PKU who is complying well with a low- chronic illnesses. A food allergy is an adverse
protein diet. reaction to food caused by an immune response.
With the rapid expansion of screening of The most common food allergens in the United
newborns for a variety of genetic and meta- States are milk, soy, egg, wheat, peanut, tree
bolic conditions (Chapter 19), a parallel expan- nut, fish, and seafood. Poor nutritional out-
sion will be necessary to address the special comes may occur in children with food aller-
nutritional requirements of children having gies as a consequence of diet restrictions that
such disorders (Longo, 2006). As a result of may severely impact nutrient intake. Nutrition
the effectiveness of early dietary treatment for education should focus on foods that should be
PKU, the list of inborn errors of metabolism avoided. Nutritionally complete hypoallergenic
treated early in life through diet has increased formulas are available to supplement a child’s
markedly (American College of Medical Genet- intake and ensure adequate growth (Feuling,
ics, 2006; Longo, 2006). Treatment and follow- Levy, & Goday, 2010).
up of these rare genetic conditions has provided
a model of customized nutrition therapy that Constipation
may have broader applications in creating Gastrointestinal dysfunction is another fre-
nutritional interventions tailored to the genetic quent concern for children with developmen-
characteristics of adult individuals as well tal disabilities. Substituting whole wheat bread
(American College of Medical Genetics, 2006). for white bread, and fresh unpeeled apples for
Table 8.10 shows a sample dietary intake apple juice, are typically suggested to families
for an older child on a ketogenic diet. A keto- dealing with a toddler who has meningomy-
genic diet is deliberately designed to be very elocoele or Down syndrome. For tube-fed
high in fat content and very low in carbohy- children, providing a fiber-containing formula
drates while providing adequate calories and and additional fluid may alleviate constipation.
protein for growth. This diet results in the However, constipation that is refractory to rou-
accumulation of ketones in the body; ketones tine dietary interventions (i.e., increasing fiber
are thought to be the mechanism of improved in the diet) can be treated using medications.
seizure control (see Chapter 27). The sample A variety of laxatives at small daily doses have
diet shown is for an older child who eats regular shown effectiveness in preventing impaction,
foods; however some children on the ketogenic discomfort, and constipation-caused anorexia
diet are not able to consume food by mouth (Sullivan, 2008).
and rely on specific fat-modified formulas that
are administered through a gastrostomy tube Celiac Disease
(Zupec-Kania & Spellman, 2008). Celiac disease involves a permanent sensitivity
to gluten, the protein portion of wheat and rye.
Food Allergies Some children with celiac disease also have to
The public is increasingly concerned about avoid oats. Children with a number of condi-
links between various types of food allergies and tions associated with developmental disabilities
have a higher incidence of celiac disease than Dietary Self-Restriction

children in the typically developing popula-
tion; these conditions include Down syndrome, Dietary self-restriction is a common problem in
Turner syndrome, and Williams syndrome children with developmental disabilities, mani-
(Hill et al., 2005). Emerging evidence and case festing itself in food refusal, selectivity by type
reports suggest a higher incidence of celiac of food or food texture, oral-motor delay, and
disease in autism spectrum disorders; how- dysphagia (Levy et al., 2009; see also Chapter
ever evidence remains inconclusive (Genuis, & 9). Autism spectrum disorders (see Chapter
Bouchard, 2010). In affected children, a gluten- 21) are particularly associated with a selective
free diet has to be followed strictly, even when eating pattern resulting from a resistance to
children are asymptomatic. Many processed change (Emond et al., 2010). Sensitivities to
foods, from both grocery stores and restau- the food colors, textures, and temperature are
rants, must be avoided because they contain often reported, in which case a child refuses
wheat and other flours for fillers and binding to eat many foods and rigidly insists on what
agents. Potato-, soy-, and rice-based products he or she will eat. When not given preferred
can be substitutes for regular breads and pastas, foods, the child completely refuses to eat and
although these specialized foods may be pro- may have temper tantrums. The child may also
hibitively expensive for many families. prefer to drink rather than to eat foods, so a
Table 8.8. Common nutrition concerns of particular developmental disabilities

Prematurity-related nutrition problems likely in the Formula changes to accommodate medical problems
first 3 years Delayed self-feeding
Rate of growth corrected for preterm birth
Difficulty with setting feeding schedules
Variable appetite, especially with illness
Gastrointestinal problems (constipation, gastroesoph-
ageal reflux, reduced appetite)
Neuromuscular disorders (e.g. cerebral palsy) Difficulty gaining weight, particularly with frequent
illness
Underweight with small muscle mass
Short stature
Constipation which may or may not be alleviated with
dietary fiber
Feeding problems/swallowing incoordination limiting
food types
Need to consider supplementation or gastrostomy
Developmental delays/intellectual disability (e.g., Unusual growth patterns

Down syndrome, Prader-Willi syndrome) Underweight or overweight
Unusual level of activity, either higher or lower
Delayed self-feeding skills
Self-restricted diet
Difficulty identifying hunger and fullness
Constipation which may or may not be alleviated with
dietary fiber
Attention-deficit/hyperactivity disorder Inability to sit long enough to eat a meal

Distractibility interfering with eating and meals
Lack of structured meal and snack patterns
Possible decreased appetite as a medication side
effect
Difficulty with socializing at meals
Epilepsy A growth plateau is likely, even if eating well

Possible changes in appetite as medication side effect
A postseizure state is likely to interfere with meals and
energy intake
Unusual growth patterns in children with poorly con-
trolled seizures
Table 8.9. Sample diet for a 10-year-old with phenylketonuria (PKU)

Breakfast ½ cup Froot Loops
6 fluid ounces rice milk
1 low-protein blueberry muffin
8 fluid ounces PKU formula
Lunch Medium garden salad with 2 tablespoons of ranch

dressing
Small order of fast food french fries
12 fluid ounces Sprite
After-school snack Baked apple slices with brown sugar and cinnamon
Dinner Hot dog bun with 1 slice low-protein cheese, mustard, ketchup, and pickles
1-ounce bag Wise Onion Rings
Pear
high proportion of total calories comes from feeding difficulties (Samara, Johnson, Lam-
one type of drink. Interventions to improve the berts, Marlow, & Wolke, 2010). Immaturity of
child’s diet might include providing a complete the gastrointestinal system is one of the limit-
vitamin and mineral supplement and adding ing factors in meeting nutrition requirements
new foods one at a time by offering them many in premature infants, resulting in the need to
times (15–20 times) over 1–2 months, paired supplement human breast milk with increased
with positive reinforcers (i.e., foods the child calories, specific fats, protein, vitamins, and
likes; see Chapter 32). Usually children with minerals (O’Connor et al., 2008). Recom-
ASDs have typical growth and caloric intake mendations about specific vitamin and mineral
despite their unusual eating habits. requirements and long-chain fatty acid supple-
ments after preterm birth are evolving, but
Issues Specific to Premature Infants findings show that increased intake of energy
Nutritional interventions for preterm infants and protein result in greater lean-body mass
represent the frontier of nutrition science. Pre- accretion as opposed to fat mass (Agostoni et
mature infants may have behaviorally based al., 2010). As one example, 400 international
feeding problems complicated by medical and units of vitamin D per day from food or supple-
growth concerns. In one study, children born ments is now recommended for all infants and
before 26 weeks of gestation age and assessed children because of an increased risk of rickets
at 6 years of age were shown to have continued (Wagner, & Greer, 2008).
Table 8.10. Sample ketogenic diet: Intake for an older child on a 4:1 (fat:protein + carbohydrate) ratio
Breakfast Omelet made with: 35 grams egg, 35 grams butter, 20 grams mushroom
Lunch 55 grams beef bologna

15 grams black olives
30 grams mayonnaise
20 grams tomato
After-school snack Carbohydrate-free multivitamin and mineral pill

20 grams strawberries
55 grams heavy whipping cream
Dinner 25 grams chicken breast cooked in 25 grams butter

25 grams avocado
25 grams green beans cooked in 20 grams butter
Snack 50 grams carrot sticks

25 grams mayonnaise
NUTRITION WITHIN assessment and care plan should be part of the

COMPLEMENTARY AND comprehensive care for children with develop-
mental disabilities. Pediatric nutrition experts
ALTERNATIVE MEDICAL CARE
work in a variety of care settings (e.g., schools,
In response to the large number of children clinics, hospitals) to ensure that children with
with developmental disabilities, many prod- disabilities receive good nutrition services and
ucts, treatments, and medicines have been cre- that the children’s parents are supported in their
ated to improve nutrition. Products claiming efforts to make feeding and nutrition a positive
to boost energy or correct nutritional deficien- aspect of parenting and family life.
cies are attractive to parents of children with
developmental disabilities. Data from the 2007 REFERENCES
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Agostoni, C., Buonocore, G., Carnielli, V.P., De Curtis,
shows that one in nine children used comple- M., Darmaun, D. Decsi, T., … ESPGHAN Commit-
mentary and alternative medicine (CAM) in the tee on Nutrition. (2010). Enteral nutrient supply for
previous year (National Center for Health Sta- preterm infants: Commentary from the European
tisics, 2008b). CAM is most commonly used by Society for Paediatric Gastroenterology, Hepatol-
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cystic fibrosis, inflammatory bowel disease, born screening: Toward a uniform screening panel
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9 Feeding and
Its Disorders
Peggy S. Eicher

■ Be able to describe the feeding-swallowing process and how it changes as an
infant grows and develops
■ Understand how medical, motor, and interactional problems influence a child’s
feeding function
■ Recognize some of the common feeding problems that occur in children with
developmental disabilities
■ Identify the basic components of a treatment approach to feeding problems
Children with developmental disabilities com- of clinical presentation associated with specific
monly experience problems feeding; some underlying diagnostic conditions. For example,
studies estimate 33%–80% of children with oral motor dysfunctions or delays are common
developmental disabilities have such problems in children with global developmental delays,
(Linscheid, 2006). Although the exact rate is cerebral palsy, and Down syndrome, while
unknown, consensus has emerged that the inci- children diagnosed on the autism spectrum
dence of swallowing dysfunction in children more likely exhibit food selectivity (Lefton-
is increasing (Lefton-Greif, 2008). Feeding Greif, 2008). The challenge in treating feeding
problems may vary in manifestation from dif- problems for children with developmental dis-
ficulty chewing to difficulty swallowing (dys- abilities is not only identifying all of the factors
phagia), severe food selectivity, inadequate interfering with the child’s feeding function but
intake, or total food refusal. Feeding problems also understanding how they interrelate.
result from a combination of several factors: This chapter first reviews the normal swal-
anatomical abnormality, motor or sensory dys- lowing process and the changes that occur in
function, medical or psychological conditions, that process during growth and development.
growth abnormality, learning difficulties, or Next, the chapter traces how various medical
social interaction difficulties (Piazza, 2008). and developmental conditions influence the
Multiple medical causes are present in almost feeding process and how such conditions fre-
50% of children with feeding problems. About quently cause feeding problems in children
90% have at least one medical diagnosis (Lef- with developmental disabilities. A case history
ton-Greif, 2008). There are certain patterns is presented to illustrate the interaction of the
121
122 Eicher
different influences and their impact on feed- through the hips, she tended to throw herself
ing function. Examples of common feeding and backward. Lungs were clear to auscultation with
digestive disorders are discussed, along with no areas of rhonchi or wheezing. Her stool was
approaches to therapy. palpable on abdominal exam. During a feeding
observation, Angelina sat in a high chair. She
■ ■ ■ ANGELINA
self-fed a few pieces of dry cereal, placing them
Angelina is a 27-month-old girl referred for near her lateral incisors, and munched them
evaluation because she “doesn’t want to eat.” adequately. Her mother attempted to spoon-
She was born prematurely at 25 weeks’ gesta- feed her baby food. Angelina never opened her
tion, weighing 1 pound. As a complication of mouth as her mother tried to push the spoon
her premature birth, Angelina has cerebral palsy through her lips repeatedly, resulting in minimal
and was slow to accept oral feeding for the first intake despite a prolonged mealtime. With the
3 months of life. bottle, her mother reclined Angelina in her lap
By the time she was discharged home at about 60 degrees. Angelina bit on the nipple
4 months, Angelina had come to accept bottle without suction. As the feeding progressed,
feeding, although she drank only 2 ounces at lower extremity extension increased, throwing
a time and needed frequent breaks. Spoon- her into an arched position through her upper
feeding proved so difficult for Angelina that her body and making it more difficult to control the
mother resorted to putting baby food in the position of Angelina’s head and neck.
bottle. Angelina transitioned to whole milk at Angelina definitely needs intervention.
15 months of age. Her mother reported Ange- Calorie intake is inadequate, resulting in poor
lina’s stools became harder and less frequent weight gain. Effective intervention must iden-
on whole milk. A 30-calorie per ounce nutrition- tify what factors are preventing her from eating
ally complete formula was recommended at 20 more successfully. Identifying those factors cor-
months of age because of poor weight gain and rectly requires familiarity with the normal feed-
to provide more balanced nutrition. Angelina ing process and how it changes over the first
refused to sit in a high chair to eat, so her mother few years of life.
fed Angelina on her lap. Oral-motor problems
included minimal mouth-opening for spoon-
THE FEEDING PROCESS
feeding, and frequent expelling of the few bites
of solid foods that she would feed herself. Swallowing
With baby foods, Angelina didn’t open
her mouth and pushed the food off the back of Swallowing is one of the most complex motor
the spoon, never letting the food pass through
activities that humans perform. It entails the
coordinated function of striated and smooth
her lips. For bottle feeding, Angelina sat in
muscles of the head and neck, plus the respi-
her mother’s lap in a very reclined position. ratory and gastrointestinal tracts. Swallowing
Her extensor tone increased during the bottle also requires input from the central, peripheral,
feeding. She frequently arched and broke away and autonomic nervous systems (Leopold &
from the nipple. Stooling was effortful, with one Daniels, 2010; Miller, 1986). Swallowing can
hard stool produced every 3–4 days. Angelina’s be divided into four phases (Figure 9.1). The
mother often had to help her evacuate the oral preparatory (Phase I) and oral transport
stools. phases (Phase II) are primarily volitional. Dur-
On physical examination, Angelina’s ing these oral phases, food is broken up, form-
weight was well below the 3rd percentile for her ing a bolus by the tongue; the tongue then
age (i.e., she weighed less than 97 out of 100 transports the bolus to the back of the throat.
The pharyngeal transfer phase (Phase III)
children her age). Her height was at the 10th
begins when the bolus passes the faucial arches
percentile for age. Angelina’s muscle tone was
(near the tonsils) and triggers the start of the
increased throughout, legs more than arms, but swallowing cascade. The swallowing cascade is
with a variable quality. Angelina had developed the involuntary sequence of highly coordinated
good head control, but shoulder strength was movements of the pharyngeal (throat) and
weak. When sitting upright while supported esophageal (tube-to-stomach) muscles. With
Feeding and Its Disorders 123
Figure 9.1. The four phases of swallowing. A) Phase I, oral preparatory: Food is taken into the
mouth, processed to a manageable consistency, and then collected into a small parcel, or bolus.
B) Phase II, oral transport: The bolus is then pushed backward by the tongue toward the pharynx.
C) Phase III, pharyngeal transfer: As swallowing begins, the epiglottis normally folds over the open-
ing of the trachea to direct food down the esophagus and not into the lungs. D) Phase IV, esopha-
geal transport: The peristaltic wave moves the bolus down the esophagus toward the stomach.
each swallow, respiration ceases as the soft palate (oral preparatory) is most influenced by growth
elevates to close off the nasopharynx (entrance and development. Reflexive oral-motor pat-
to the nasal airway at the back of the mouth). terns in the infant are integrated into more
At the same time forward movement and eleva- complex oral-motor patterns that are learned
tion of the hyoid bone results in: 1) tipping of through practice. Cortical maturation enables
the epiglottis (a projecting piece of cartilage) to more independent and finely graded tongue
cover the trachea (entrance to the lungs) so that and jaw movements to develop under increas-
food does not slip into the airway, and 2) opening volitional control (Leopold & Daniels,
ing the upper esophageal sphincter (UES, or 2010). Acquisition of oral motor skills occurs in
entrance to the esophagus). A wave-like motion a sequential, stepwise progression. Mastery of
(peristalsis) originating in the back wall of the skills at each level provides the foundation for
throat propels the bolus past the closed airway, skills at the next level. Thus, no stage can be
through the open UES, and into the esophagus, skipped without interfering with the foundation
marking the start of the esophageal transport skills for the next stage.
phase (Phase IV). During esophageal trans-
port, the bolus is pushed down the esophagus Suckling
by continuation of the peristaltic wave, which
Suckling is the earliest oral pattern. The tongue
signals the relaxation, or opening, of the lower
moves in and out while riding up and down
esophageal sphincter (LES, entrance to the
with the jaw, creating a wave-like motion. Suck-
stomach), allowing the bolus to pass into the
ling motions and swallowing activity have been
stomach. Entrance of the bolus into the stom-
reported in fetuses as early as 12–14 weeks’
ach and subsequent closure of the LES marks
gestation (Popescu, Popescu, Wang, Barlow, &
the end of the esophageal transport phase.
Gustafson, 2008). Suckling and swallowing are
gradually coupled over the course of gestation
Developmental so that the fetus can swallow half an ounce at 20
Changes in Oral Motor Skills weeks’ gestation and up to 15 ounces at 38–40
The process of swallowing evolves as the ner- weeks’ gestation. Only following delivery and
vous system matures. Phase I of swallowing with some practice, however, does the baby
124 Eicher
develop the rhythmical suck‑swallow bursts fill much of the mouth, easing the formation of
coordinated with breathing to allow functional the vacuum necessary to draw fluids out of the
feeding. This stepwise coupling of suck‑swallow nipple. The larynx (voice box at the entryway to
and then suck‑swallow‑breath is one reason the lungs) is almost tucked under the tongue,
that even healthy premature infants usually necessitating less throat control to guide the
require tube feedings during the first weeks of liquid past the airway and into the esophagus
life (Amaizu, Shulman, Schanler, & Lau, 2008; (Bosma, 1986).
Gewolb & Vice, 2006; Ross, 2008). With growth, jaw and palate enlarge in
For the first 3–4 months of life, suckling relation to the soft tissue structures, allowing
is a reflexively driven activity that occurs invol- room for teeth (Figure 9.2). The larger oral
untarily whenever something enters the infant’s cavity is not as efficient for nipple-feeding but
mouth. With brain maturation, the reflex is facilitates spoon entry and lateralization. The
integrated and the infant can control initiation larynx descends and moves backward as the
of the suckle pattern. Likewise, the ability to neck lengthens. This elongation necessitates
stabilize the jaw increases and the tongue dis- increased postural control of the head and neck
sociates from the jaw, leading to the next stage, to enable safe swallowing. This is achieved as
sucking. the child develops gross motor control for
righting the head and sitting independently.
Sucking Meanwhile, the changes occurring in the child’s
During sucking, the lips purse, the jaw opening oral-motor pattern afford the tongue increas-
is smaller and more controlled than in suckling, ing control of collection and propulsion of the
and the tongue is raised and lowered indepen- food in the mouth and pharynx, enhancing the
dently of the jaw. When sucking replaces the child’s ability to guide the food safely past the
anterior/posterior pattern of suckling, usually airway.
around 5 months of age, the child can progress The integration of growth and enlarg-
to spoon feeding. Because of the predominant ing structures with increasing neurologic con-
up-and-down pattern of sucking, food can be trol over posture and oral-motor pattern is so
transported to the back of the mouth without important that delay in gross motor or oral-
first riding out of the mouth on the tongue. motor development can decrease feeding effi-
ciency and foster swallowing incompetency
Munching and Chewing (Manno, Fox, Eicher, & Kerwin, 2005). Simi-
larly, feeding difficulties may be the first sign
With munching, small pieces of food are
of an anatomical defect involving the oral or
broken off, flattened, and then collected for
nasal cavities, pharynx, or esophagus that can
swallowing. Munching consists of a rhythmi-
adversely affect swallowing. Clefts such as those
cal bite-and-release pattern with a series of
in the lip or palate interfere with sealing off the
well-graded jaw openings and closings. More
oral cavity, decreasing the child’s efficiency at
important, however, the emergence of tongue
generating negative pressure and collecting the
lateralization at this stage enables the child to
food in preparation for swallowing. A change
move food from side-to-side and then regather
in size or shape of an oral structure that affects
it in the mid-line. Actual chewing and grinding
coordination of the swallowing process can also
food into smaller pieces does not occur until the
be a significant problem; for example, enlarged
child acquires a rotary component jaw move-
tonsils and adenoids may render the child
ment, a capacity that emerges around 9 months
dependent on his or her mouth as an airway,
of age and is gradually modified via repetition
influencing suck‑swallow‑breath timing and
until, by around 2 years of age, it approximates
even coordination, if the flow of the food bolus
the adult pattern (Gisel, 2008).
is disrupted by the tonsils. Normal esophageal
peristalsis (the involuntary constriction and
The Influence of Growth relaxation of the muscles of the esophagus and
on Oral-Motor Structures intestine, creating wavelike movements that
Typically, the attainment of new oral-motor push food forward) is interrupted in children
skills coincides with the change in oral-motor with esophageal atresia or tracheoesopha-
structures occurring with growth. The infant, geal fistulae, which are abnormal connections
for example, is perfectly equipped for nipple- of the esophagus to the respiratory tract. Even
feeding. The cheek fat pads confine the oral cav- after repair of these abnormal connections, the
ity while the tongue, soft palate, and epiglottis child’s swallow will be influenced by the degree
Figure 9.2. The influence of growth on the bony structures of the oropharynx. The mandible (jaw) enlarges,
enabling room for teeth and a larger oral cavity. The larynx descends and moves posteriorly, necessitating
increased control of bolus propulsion to guide it past the airway.
of abnormal peristalsis remaining in the esoph- to swallow, which explains why she eats only
ageal phase of the swallow. a few bites. However, Angelina’s oral-motor
Referring back to the case study and Ange- function is only partly responsible for her feed-
lina, the development of her feeding problems ing problems. There are medical, motor, and
can now be understood. She was an ineffective interactional factors that contribute to Ange-
bottle feeder. As she was a 25-week preterm lina’s poor feeding function, too.
baby, suck‑swallow‑breath coordination would
have been absent at birth and would have had to
develop while she was intubated and supported FEEDING AND THE INFLUENCE
with a nasogastric (NG) tube running through OF MEDICAL CONDITIONS
her nose down to her stomach. Moreover, the
lack of buccal fat pads in the so-called micro- Successful feeding is dependent not only on the
premi impedes the generation of sucking pres- anatomy and function of the oral and pharyn-
sures. In fact, Angelina continues to use more geal structures involved in swallowing but also
nipple compression than suction to bottle-feed. on the child’s medical status, especially with
Because she was not successful at spoon feed- regard to respiration and digestion (Manno et
ing, she did not acquire the foundational skill of al., 2005). Sensory information from the lungs,
sucking, with its jaw stability and independent heart, and gastrointestinal (GI) tract goes
tongue movement. This prevented her from directly to the swallowing center in the brain.
progressing to lateral movement of the tongue. Through this input, a child with breathing diffi-
She is not accustomed to using her tongue as culty (e.g., wheezing) may start to drool because
a platform to transport food. Although she can swallowing frequency slows as a result of the
move small pieces of food with the edge of her need for increased respiratory rate (Gewolb &
tongue over to her teeth to flatten them, she Vice, 2006; Khoshoo & Edell, 1999). Current
does not use her tongue to re-gather the pieces research suggests that the feeding difficulties
and, thus, she only eats single, small pieces of of preterm infants may relate more to inappro-
food that dissolve in the mouth or are very soft. priate swallow–respiration interaction than to
Despite some interest in self-feeding, it is very the suck–swallow interaction (Lefton-Greif &
hard for Angelina to efficiently transport food McGrath-Morrow, 2007).
126 Eicher
Figure 9.3. After food enters the stomach, it is mixed with

acid and is partially digested. Then it passes through the
three segments of the small intestine (duodenum, jejunum,
and ileum). There, digestive juices are added, and nutrients
are removed. The remaining water and electrolytes pass
through the colon, where water is removed. Voluntary stool-
ing is controlled by the rectal sphincter muscles.
Esophagus to Stomach:
Gastroesophageal Reflux, Figure 9.4. Gastroesophageal reflux (GER). Food passes
Dumping, and Delayed Emptying down the esophagus (A), through the lower esophageal
sphincter (D), and into the stomach (E) and duodenum (F).
Input from the GI tract (one long tube, from If the sphincter does not remain closed after the passage of
mouth to anus) also has significant impact on food, reflux (C) occurs, as shown in this barium study in a child
with a nasogastric tube (B) in place.
the feeding process (Figure 9.3). Gastroeso-
hageal reflux disease (GERD) is commonly
associated with feeding problems in children Vomiting is not the only effect that GER
with developmental disabilities (Williams et can have on the feeding process. A child with
al., 2010). The lower esophageal sphincter GER who feels uncomfortable all the time may
(LES) functions as a one-way valve to prevent lose interest in eating or may accept only a few
the backward flow or reflux of food up into favorite foods (Hassall, 2005). GER can also
the esophagus (termed gastroesophageal reflux affect the movement of the tongue, throat, and
[GER]; Figure 9.4). GER can result in vomit- esophagus, causing the child to choose foods
ing, and if the stomach’s contents enter the air- that need less oral preparation and are therefore
way, the reflux can cause coughing, wheezing, easier to swallow. The resulting lack of practice
and even pneumonia (Gold, 2005). In addition, with more difficult textures can lead to delayed
repeated entry of stomach acid into the esopha- oral–motor development. The most common
gus can cause inflammation (esophagitis) that conditions associated with GER are cerebral
makes eating painful. The child may respond to palsy and prematurity.
GER by vomiting, refusing to eat, or taking fre- Vomiting, feeding problems, poor weight
quent breaks in the meal. GER can result from gain, and irritability are also characteristics of
a number of abnormalities, and some forms can adverse food reactions, including food allergy
be inherited (Hu et al., 2004). The most com- and food intolerance. The incidence of food
mon problem is transient relaxation of the LES, allergy has dramatically increased over the
or lowered LES resting tone, that allows reflux last 20 years (Shaker & Woodmansee, 2009).
of gastric contents (Gold, 2004). LES function The most common allergenic foods are cow’s
can be influenced by meal volume and compo- milk, hen’s egg, soy, wheat, fish, peanuts, and
sition (Fox et al., 2007). Reflux also can result shellfish (Berni Canani, Ruotolo, Discepolo, &
from increased abdominal pressure caused by Troncone, 2008). Eosinophilic gastroenteropa-
straining or constipation (Borowitz & Sutphen, thies are a heterogeneous group of non-IgE-
2004). mediated food allergies characterized by feeding
intolerance and GER symptoms. Biopsies taken lactase pills before ingesting a milk product, or
from the lining of the involved area of the GI using lactase-containing or lactose-free dairy
tract demonstrate increased accumulation of products such as yogurt and cheese (Guanda-
eosinophils, the allergy-reactive white blood lini, Frye, Rivera, & Borowitz, 2010).
cells (at least 15 eosinophils per high-powered
field; Shaker & Woodmansee, 2009). The The Colon:
affected children also frequently have food sen- Diarrhea and Constipation
sitivity, shown through skin testing, as well as
The jejunum and ileum, the middle and lower
clinical evidence of other allergic disease (Muk-
portions of the small intestine, absorb digested
kada et al., 2010).
nutrients. The nonabsorbable nutrients, called
Nausea, vomiting and bloating may signal
bulk or fiber, pass to the large intestine, or
delayed stomach emptying (Gariepy & Mousa,
colon. Although movement from the stomach
2009). Normally, stomach wall contractions
to the end of the ileum may take only 30–90
mix and push the stomach contents into the
minutes, passage through the colon may require
duodenum, the upper part of the small intes-
1–7 days.
tine. Delayed stomach emptying can be caused
Rapid movement through the colon leads
by abnormal stomach contractions, a blockage
to diarrhea; slower movement causes more water
in the pylorus (the sphincter at the junction of
to be absorbed, resulting in hard stools and
the stomach and the duodenum), poor intesti-
constipation. Proper bowel evacuation requires
nal motility, or a meal heavy in fat or protein.
adequate fluid, fiber, and coordinated propul-
Dumping occurs when the stomach emp-
sive muscle activity (Walia, Mahajan, & Steffen,
ties too rapidly. Symptoms of dumping include
2009). Overly loose stools may be caused by lac-
nausea, vomiting, diarrhea, heart palpitations,
tase deficiency, inadequate dietary fiber, dump-
and weakness (Gariepy & Mousa, 2009). Chil-
ing, overaggressive use of laxatives or enemas,
dren receiving carbohydrate-based high-calorie
passage of loose stool around an impaction,
supplements or formulas can have symptoms of
disruption in the balance of gut flora, or dietary
dumping. Children who have had a surgical pro-
imbalance via over-ingestion of fruit juices.
cedure to weaken the pylorus are particularly at
Constipation is a major problem for many
risk. Avoidance of dumping requires slowing
children with developmental disabilities. Con-
the rate of stomach emptying or decreasing the
stipation is defined as hard stools, or a delay or
concentration of food delivered to the duode-
difficulty in defecation, present for 2 or more
num. This can be accomplished by 1) slowing
weeks, and sufficient to cause significant dis-
the feeding rate using continuous feeding, 2)
tress (Loening-Baucke, 2005). In addition to
using fat-based instead of carbohydrate-based
aggravating the risk of reflux by increasing
caloric supplements, or 3) changing to a for-
intra-abdominal pressure, constipation can
mula with a lower caloric concentration (Gari-
be associated with cramping and discomfort
epy & Mousa, 2009).
that interferes with appetite, positioning, and
The Small Bowel: Lactase Deficiency sleep (Chao et al, 2008). This can be signifi-
cant enough to slow growth (Chao et al., 2008).
Enzymes and other substances from the pan-
Some evidence indicates a direct relationship
creas and bile ducts are released into the duode-
between reduction of stool in the rectum (the
num and aid in the breakdown of food particles
lowest part of the colon) and decreased abdomi-
into sugars, fatty acids, amino acids, vitamins,
nal pain with increased appetite, suggesting a
and minerals. Approximately 70% of the world
communication between rectal fullness and rate
population has an inherited deficiency of the
of gastric emptying (Boccia et al., 2008; Dupont
enzyme lactase, which normally breaks down
et al., 2006).
milk sugar (lactose) to allow its absorption
(Lomer, Parkes, & Sanderson, 2008). With lac-
tase deficiency, unabsorbed lactose irritates the
Influence of Other
intestinal wall and causes abdominal discom- Medical Conditions
fort, vomiting, and diarrhea after ingesting milk Any medical condition that impairs the function
products. Yet dairy products are an important, of the respiratory tract or GI tract can influ-
if not the main, source of calcium, vitamin D, ence the feeding and swallowing process. For
and protein for many, rendering their potential example, asthma, kidney disease, and inborn
elimination challenging. Symptoms of lactose- errors of metabolism (see Chapter 19) can con-
caused GI irritation can be minimized by stag- tribute to the development of a feeding prob-
gering milk intake throughout the day, taking lem (Cooper-Brown et al., 2008). Moreover,
128 Eicher
these disorders can influence one another. An and/or persistent primitive reflex activity (as
increase in the effort to breathe can influence seen in cerebral palsy; see Chapter 24) interfere
GI function by changing pressure relationships with trunk support as well as the appropriate
between the chest and abdomen (Issac, 2009). trunk-, neck-, and head-alignment necessary
During an asthma attack, the child generates for successful feeding. Likewise, medical con-
increased negative lung pressure to breathe; ditions can significantly influence posture and
therefore, abdominal pressure is increased rela- alignment. GI discomfort, whether from irri-
tive to chest pressure, increasing the probability tation (as with esophagitis) or distension (as
of GER. Likewise, GER can contribute to reac- with constipation), compels the child into pos-
tive airway narrowing, wheezing, and increased tures that lessen abdominal pressure. Respira-
effort to breathe (Gold, 2005). Thus, a vicious tory conditions that increase the child’s effort
cycle can start fairly easily. Unfortunately, if to breathe compel the child to assume postures
oral feeding is interrupted for prolonged peri- that increase the size of the airway. These tend
ods of time for any reason, the child may need to be extensor positions that interfere with
to restart feeding at an easier texture, especially control and alignment through the hips, back,
if the child has cerebral palsy. head, and neck. Lack of adequate trunk support
and improper alignment greatly hinder rib cage
FEEDING AND THE expansion, which ultimately interferes with res-
piration and increases pressure on the stomach
INFLUENCE OF TONE,
and abdominal cavity. Due to inadequate sup-
POSTURE, AND DEVELOPMENT port and restricted respiration, the shoulders
The sensory and motor systems provide both typically elevate, reducing the stability of the
the structural foundation and the sensory base of support for the head and neck. Improper
information that enable a child to practice and head and neck alignment makes guiding a bolus
master oral-motor skills. Because the feed- past the airway more difficult, increasing the
ing process involves internal activities such as risk of aspirating food into the lungs (Larnert
breathing, digestion, and elimination, structural & Ekberg, 1995; Sheppard & Fletcher, 2007).
alignment, control, and sensory input affect the Improper alignment also limits tongue move-
feeding process and are in turn affected by it. ment and interferes with oral-motor patterns
Abnormal muscle tone, whether high or low, (Figures 9.5A and 9.5B).
Neutral neck
position
Vallecular space
Epiglottis
Epiglottis
Esophagus Tongue Neck extension

Tongue
A B
Figure 9.5. A) The child is in a neutral head position with a slight chin tuck. The neutral position allows for open airway while
allowing the epiglottis to fall away from the tongue base, opening the vallecular space. This position gives the tongue a strong
base of support off of which to move effectively with increased range and control. Widening the vallecular space acts as a “safety
net” to catch any early leak of the food bolus from the oral cavity before the swallow. B) The child is in a position of head and neck
extension. With neck extension, the tongue base retracts apposing the epiglottis and eliminating the vallecular space. Tongue
retraction decreases control of posterior tongue transport. Moreover, by minimizing the vallecular space, this position decreases
the possibility of the vallecular “safety net.”
For all of these reasons, a child should food or ending the meal, the child may repeat
be seated during feedings with a firm base of the maladaptive behavior the next time a meal is
support to control positioning of the hips and served. If this happens repeatedly the maladap-
provided with adequate trunk support to allow tive behavior becomes a learned response.
neutral positioning of the head and neck. More- Many feeding transitions occur in the first
over, the ears and shoulders should be aligned 3 years of life, and a child with a developmental
in the same vertical plane as the hips. This disability may have more difficulty during this
may require a slightly reclined position if the period in adjusting to changes in textures, uten-
child cannot yet sit independently. Some chil- sils, and settings. This heightens the importance
dren, in fact, prefer to drink while lying down. of a stable mealtime environment and consis-
Such reclining, if the child has gastrointesti- tent interactions between the caregiver and
nal problems, may start as a way to stretch out child (Manno et al., 2005). Consistency imparts
and decrease the pressure on the abdomen, or a sense of familiarity that enables children to be
to support the rib cage to facilitate breathing. comfortable and more tolerant of mealtimes.
However, the child then may become depen-
dent on gravity, rather than on active tongue
transport, to move the bolus. As a result, spoon FEEDING PROBLEMS IN
feeding or drinking in an upright position, CHILDREN WITH DISABILITIES
which requires active oral transport, is not suc-
Oral motor problems in children may have
cessful.
a number of causes including 1) abnormali-
Frequently children will avoid certain
ties in muscle tone; 2) compensatory posture
sensory experiences that cause them discom-
and breathing patterns resulting from various
fort because a sensation is associated with past
medical issues, especially respiratory and gas-
or current painful, negative stimuli. In regards
trointestinal problems; and 3) limited practice
to feeding, this may involve refusing certain
of more mature oral-motor patterns. Because
textures, avoiding oral stimulation, or even a
children with developmental disabilities have a
hypersensitivity to the smells or visualization of
higher frequency of medical, motor, and learn-
nonpreferred foods. This hypersensitivity may
ing problems, their risk for feeding problems is
result from an abnormal response of the child’s
greater. A feeding interruption may result from
sensory system, but also it can be seen as part
structural or neurological abnormalities that
of the sensory feedback from a medical condi-
affect the mouth, nose, respiratory system, or
tion. For example, a child with GI discomfort
GI tract and interfere with safe feeding. A feed-
may refuse new textures or feel nauseated and
ing problem may also develop if a medical or
anxious in response to certain smells or even at
developmental condition chronically prevents
the sight of a spoon. In fact, GER can contrib-
the child from intaking an appropriate amount
ute to aspiration by desensitizing the larynx and
without stress. The child then starts to associ-
weakening the laryngeal protective responses
ate discomfort and pain with feeding and learns
(Miller, 2009). With treatment of the medical
to avoid feeding situations. This food avoidance
condition, the sensory problems can resolve
or aversion can continue even after the medical
(Suskind et al., 2006).
condition has resolved, especially in children
The child’s fine motor and adaptive skills
who have difficulty interpreting or integrating
influence the choice of utensils and level of
sensory input from elsewhere in the body. An
independence at mealtime, and cognitive abili-
explanation of some of the more common feed-
ties help to shape how the child interacts with
ing problems follows.
the mealtime environment. Because children
are dependent on their caregivers for feeding,
and thus for nutrition, effective caregiver–child Increased Oral Losses
communication during mealtime is crucial. Loss of food from the mouth, or “messy eat-
An understanding of the child’s cognitive level ing,” signals an oral-motor problem, whether
and sensitivity to nonverbal cues prepare the related primarily to the oral pharyngeal mus-
caregiver to effectively communicate with the culature or the impact of medical or postural
child. The absence of effective communication conditions on oropharyngeal function. The
increases at mealtime the likelihood of mal- child may have poor lip closure or jaw instabil-
adaptive behaviors such as expelling, refusal, or ity caused by abnormal tone in the facial mus-
tantrums. If the feeder responds to these mal- cles. As a consequence, once in the mouth, food
adaptive behaviors by removing the disliked may 1) be carried out on the tongue as a result
130 Eicher
of a persistent suckle pattern or exaggerated Coughing, Gagging, and Choking

tongue thrust; 2) fall out of the mouth if the Coughing and gagging indicate difficulty with
child has not practiced an active transport pat- swallowing. Both are normal defense mecha-
tern; or 3) be expelled in an attempt to control nisms to prevent aspiration. Coughing and
bolus size, as when there is swallowing difficulty gagging during the meal may indicate trouble-
related to GER or throat infection (Bhatia & some food textures. For example, if a child gags
Parish, 2009). Sometimes food may be exhaled on lumpy foods but not on purées, it indicates
from the mouth if the oral cavity also serves as difficulty adequately chewing or transporting
the primary airway. the more highly textured food. The child who
coughs while drinking may have a problem con-
Prolonged Feeding Time trolling flow through the pharynx and past the
Prolonged feeding time (greater than 30 min- airway. If the child coughs or gags at the end of
utes) usually results from a combination of fac- or after a meal but not during the meal, GER
tors. Oral transport may be slowed by difficulty should be considered. Coughing or gagging
in collecting food in the mouth or by weakened during meals that persists for several weeks is a
tongue movements. The suckling pattern of serious warning sign and requires evaluation as
infants with a history of prematurity or cleft soon as possible (Lefton-Greif, 2008).
palate may utilize more compression than suc- Choking occurs when food becomes stuck
tion, as in Angelina’s case. This limits the nega- in the pharynx. This happens most commonly
tive pressure they can generate with which to when large pieces of soft solids are given to a
extract liquid from a nipple, and slows the rate child whose munching pattern or suckle trans-
of feeding. If pharyngeal transfer is weak or port is inadequate, or if the child tends to stuff
uncoordinated, the child may need more swal- his or her mouth before swallowing. Cutting
lows between bites to clear the food bolus from foods up into smaller pieces or offering only a
the pharynx. The child may also slow the meal couple of pieces at a time may decrease chok-
to allow more time for breathing between bites ing. After some practice and with positive rein-
or to complete transport through the esopha- forcement, the child may be able to gradually
gus. The child may appear at times to take increase the size and/or number of chunks
breaks, or dawdle, during a meal to allow time accepted. Choking can also occur when there
for gastric emptying. Prolonged feeding time is dysfunction in the upper esophageal sphinc-
is a difficult problem for both the child and ter, as with GER, or when using the mouth as
caregiver and signals the need for an evaluation an airway while eating (Manno et al., 2005). A
(Arvedson, 2008). full evaluation can help to ascertain the etiology
quickly and limit anxiety.
Food Pocketing
Food pocketing (holding food in the cheeks Aspiration
or the front of the mouth for prolonged peri- Aspiration refers to food or a foreign substance
ods) suggests either problematic oral transport entering into the airway (Figures 9.6A, 9.6B,
or food refusal. Children with difficulty mov- and 9.6C). It may occur before, during, or after
ing their tongue from side-to-side or those who a swallow or as a result of reflux. Everyone aspi-
use an immature central transport pattern often rates small amounts of food occasionally, but our
have trouble transporting food back to the mid- protective responses—gagging and coughing—
line before a swallow. As a result, mashed food help to clear them from the airway. Children
or chunks migrate toward the cheeks. Alterna- with developmental disabilities that affect sen-
tively, if a child does not want to swallow the sory or motor coordination of the oropharynx,
food because of its texture or taste, he or she larynx, or trachea, however, are at increased risk
may trap it in the cheeks in this case, too, and for recurrent aspiration (Giambra & Meinzen-
may also trap it under the tongue. Some chil- Derr, 2010). Furthermore, these children often
dren with a persistent suckle pattern will move have impaired protective responses that limit
each food bolus to the front of the mouth just their ability to clear their airway once aspiration
behind the front teeth before trying to swallow occurs. Signs of aspiration are influenced by the
it. Often this will lead to build up of residue, age of the child. In infants, it may be present
and pooling under the tongue. as apnea and bradycardia (slowed heart rate)
nasal cavity
soft palate
epiglottis
tongue
food bolus
esophagus
trachea
A. Aspiration before swallow B. Aspiration during swallow
C. Aspiration after swallow

Figure 9.6. Aspiration. A) If a part of the bolus leaks past the soft palate before a swallow
is triggered, it can flow past the open epiglottis and into the trachea. B) If the epiglottis is
not completely closed as the bolus passes, aspiration can also occur. C) Food residua in the
pharynx after a swallow can be carried into the airway with the next breath, resulting in aspira-
tion after the swallow.
during meals, whereas in older infants and chil- asthma or GER. Because of the resulting lack
dren, it may appear as coughing, congestion, of practice eating, these children’s oral-motor
or wheezing. Some children aspirate without a skills are also commonly immature or dysfunc-
protective response from the body; this is called tional, which further complicates matters. Food
silent aspiration and is particularly dangerous refusal requires a coordinated approach among
because it often goes undetected. Recurrent the child’s medical provider, an oral-motor
aspiration and resultant accumulation of food- therapist, and a behavioral therapist (Williams
stuffs in the airway causes irritation and inflam- et al., 2010).
mation that can lead to pneumonia, bronchitis,
or tracheitis (Lefton-Greif, 2008). If aspiration Food Selectivity
is suspected, a multidisciplinary feeding team
Food selectivity implies that the child will
should see the child to evaluate if aspiration is
accept only a small number of foods, although
occurring, and, if so, why (Cass, Wallis, Ryan,
he or she may eat large quantities of them.
Reilly, & McHugh, 2005; Cooper-Brown et al.,
Children with autism spectrum disorders often
2008).
display selectivity of foods (see Chapter 21).
Texture-focused selectivity is most commonly
Food Refusal seen in children with cerebral palsy who have
Food refusal can be total, in which case the child oral-motor problems. Selectivity may initially
does not accept and swallow any food, or par- stem from an underlying medical condition, but
tial, in which the child eats some food but not then becomes a learned response perpetuated
enough to sustain adequate growth and nutri- by environmental or interactional factors, even
tional health. Food refusal is most often associ- after the instigating factor has been resolved
ated with an ongoing medical problem such as (Manno et al., 2005; Williams et al., 2010).
132 Eicher
Food selectivity is a difficult problem that, like be easy to assume that cerebral palsy is the cause
food refusal discussed above, also requires the of Angelina’s oral motor dysfunction. However,
coordinated efforts of a medical care provider, if cerebral palsy was actually the cause, she
oral-motor specialist, and behavioral therapist. would more likely demonstrate an immature
suckle (thrusting) pattern and not have the abil-
Vomiting ity to even weakly lateralize. It would also be
GI issues including vomiting and constipation easy to attribute her preference for neck exten-
are a major problem for children with devel- sion in feeding and her refusal to sit in the high
opmental disabilities (Sullivan, 2008). Not chair to her cerebral palsy. However, because
all vomiting is a consequence of GER. Other she possesses the motor control to reciprocally
medical conditions that produce vomiting crawl, it is less likely that she would be domi-
and gastric intolerance that mimic reflux are nated by extension related to her cerebral palsy.
increased intracranial pressure, obstruction of Moreover, cerebral palsy does not explain her
the stomach’s outflow tract as with pyloric ste- limiting the volume of liquids or her refusing
nosis or intestinal malrotation, kidney disease, purées. Volume limitation and refusal are more
and food allergies (Mullen, 2009). Therefore, commonly associated with GI tract discom-
an appropriate medical evaluation is important. fort, as with GER and/or constipation. Ange-
Sometimes the pattern or content of emesis can lina’s difficulty with the introduction of spoon
suggest a cause (e.g., bilious vomiting suggests feeding is consistent with avoidance of spoon
obstruction; emesis immediately after ingesting pressure on her tongue. Children commonly
a certain food suggests an allergy). avoid tongue pressure because of an increased
gag response related to GI discomfort, as with
Poor Weight Gain GER. The constipation and arching reported
Poor or inadequate weight gain describes growth by her mother also suggest that Angelina has
that is falling away from the typical growth GI dysmotility manifested as constipation and
curve or the individual child’s own established GER. Angelina’s constipation slows her GI
growth curve for weight. Historically, the term motility and increases intra-abdominal pressure
used was “failure to thrive” (Kessler, 1999), and the possibility of GER, which makes her
although “poor weight gain” has gained cur- less motivated to increase food-intake volume
rency recently. Poor weight gain can result or practice new oral motor patterns.
from inadequate caloric intake, excessive caloric Angelina’s mother has also contributed to
expenditures, or an inability to use the calories Angelina’s feeding problems. Because Angelina
that have been ingested. Nutritionists can be does not like the high chair, her mother con-
very helpful in determining the caloric intake tinues to feed her in her lap, which does not
and nutritional balance of a child’s diet as well as provide adequate support to increase ease of
providing an estimate of the child’s daily caloric breathing or to optimize control of oral-motor
and protein needs (Cowin & Emmett, 2007; movements. Because Angelina does not open
Sneve, Kattelmann, Ren, & Stevens, 2008). her mouth for the spoon, her mother has offered
This information then guides further evalua- her table foods in which she seems more inter-
tion for the underlying cause of the inadequate ested. Angelina prefers these foods not only
weight gain. Children with developmental dis- because she may like the taste, but also because
abilities are at increased risk of poor growth she can self-feed them. This carries mixed
for both nutritional and nonnutritional reasons results. On the one hand, self-feeding increases
(see Chapter 8). her independence. However, by keeping her
Angelina’s story illustrates several topics dis- mother away from her mouth and avoiding
cussed in this section. Her feeding problems can be spoon placement on her tongue, Angelina has
described as prolonged feeding time, food selectiv- too much control over what foods she accepts
ity by texture (in her case, refusal of purées), partial and where she puts them in her mouth. She
food refusal (volume limitation) in that she stops thus can avoid any therapeutic benefit that her
eating after only a few bites, and inadequate intake mother’s placement of the spoon in her mouth
or poor weight gain. Due to her lack of experience could provide her. Food and liquid intake is
with spoon feeding, she cannot manipulate her limited for Angelina due to the influence of GI
tongue effectively to transport food, and tongue dysmotility, inefficient oral motor pattern for
lateralization is also weak. liquid and food pieces, and spoon refusal. Thus
In light of her cerebral palsy and its con- her total caloric intake remains inadequate, and
nection to persistent primitive reflexes, it would she exhibits poor weight gain.
EVALUATION OF swallow, so the exact mechanism of the aspira-

A FEEDING PROBLEM tion/penetration may not be clear. FEES with
sensory testing (FEES-ST) can yield important
Because of the complexity of the feeding pro- information about the sensory thresholds of the
cess and the multiple influences on it, evalu- area, information that is unavailable from the
ation of a feeding problem should employ a modified barium swallow (MBS; Lefton-Greif,
multidisciplinary perspective (Manno et al., 2008).
2005; Sheppard & Fletcher, 2007). Information If GI dysmotility is suspected, an upper
is needed regarding how and when the feed- GI series can be done to rule out anatomi-
ing problem started, how it has changed over cal problems. For this procedure, too, barium
time, and what interventions have been used. is either ingested by the child or infused into
Background information regarding the child’s the stomach by a nasogastric (NG) tube. As the
medical, motor, and behavioral history is also fluid moves through the esophagus, stomach,
important. A thorough evaluation includes the and small intestine, the radiologist can identify
child’s medical history and physical examina- structural abnormalities (Figure 9.4; Vanden-
tion, neurodevelopmental assessment, oral- plas et al., 2009). A second procedure, the milk
pharyngeal evaluation, feeding history, and scan or gastric emptying study, provides infor-
mealtime observation (Sheppard & Fletcher, mation about height and frequency of GER
2007). A nutritional analysis of a 3-day record episodes and assesses the rate of gastric empty-
of the child’s intake can provide helpful infor- ing (Figures 9.7A and 9.7B; Vandenplas et al.,
mation regarding the total calories ingested, 2009). During the milk scan, the child swallows
vitamin and mineral content, and nutritional a formula to which a small amount of a radioac-
balance of the diet (Cowin & Emmett, 2007). tive tracer has been added, enabling the radi-
The information gleaned from the evaluation ologist to track the milk as it moves through the
will identify the feeding problem and the medi- GI tract. In addition, if the radioactive tracer
cal, motor, and motivational factors contribut- is found in the lungs after several hours, it
ing to it. suggests that aspiration has occurred during a
Diagnostic procedures may be needed to reflux episode.
provide further information to support or clar- The final two tests, the pH probe and gas-
ify the clinical impression. Films of the airway troesophageal duodenoscopy (endoscopy), are
can aid in detecting upper airway obstruction. If considered the gold standards in the evaluation
aspiration of oral feedings is suspected, a modi- of GER and esophagitis, respectively (Vanden-
fied barium swallow with video fluoroscopy is plas et al., 2009). For the pH probe, an NG-like
commonly used. In this procedure, the child tube is inserted through the nose and passed
is positioned in the usual feeding position and down the esophagus to just above the junction
offered foods to which barium, a milk-like sub- of the stomach and esophagus. At the tip of the
stance visible on x ray, has been added. The radi- tube is a small sensor, which detects the pH, or
ologist uses a video fluoroscope to visualize the acidity, above the gastroesophageal junction. If
pharynx and watch how the pharyngeal muscles acid in the stomach refluxes into the esophagus,
guide the food bolus past the airway. The tex- the sensor records a sudden drop in the pH
ture of the food and liquids can be varied to level, signaling GER (Figure 9.8). A symptom
evaluate whether the child has more difficulty diary or videotaping of the child’s activities and
with one texture than another (Lefton-Greif, behaviors during the study period enhances
2008). Videofluoroscopy can also give informa- the interpretation of the pH changes. A rela-
tion about airway size and the interface of swal- tively new technology, multiple intraluminal
lowing and respiration. Flexible endoscopic impedance (MII), measures the movement of
evaluation of swallowing (FEES) has become fluids, solids, and air in the esophagus. MII and
more frequently used in evaluating swallowing pH electrodes should be combined on a single
dysfunction. With FEES, a small endoscope is catheter. This combination can detect extremely
inserted into the nose to the back of the throat small amounts of refluxed material,whether or
in order to directly visualize the hypopharynx not it is acidic (Vandenplas et al., 2009). Endos-
where the larynx, the entrance to the lungs, copy entails passing a fiber-optic tube through
sits next to the entrance to the esophagus. the mouth down the esophagus and into the
The endoscopist can see whether some of the stomach. The child is sedated during this pro-
bolus has entered the airway before, during, cedure. The gastroenterologist can then look
or after the swallow. The drawback is that the directly at the esophagus and stomach and take
area cannot be captured via the camera during a small biopsy specimens to look for signs of
134 Eicher
1.370
x 105
1.162
GE (1 hr residual = 85%)
A B
Figure 9.7. Milk scan. In this study, the child is fed a milk formula containing minute amounts of a radioactive label that can be
seen on scanning. A) Shown here is a sequence of images taken after the child drinks the milk. The images are generated by a
computer from information obtained by the scanner every 120 seconds. The area of radioactivity at the top of each image repre-
sents residual formula in the mouth, whereas the lower area of radioactivity is the stomach. Images 34–39 show increased activity
in the mouth and esophagus, reflecting a reflux episode to the mouth and descending back to the stomach. In frames 44–48,
radioactivity can be seen flowing up from the stomach into the mid-esophagus, indicating another episode of reflux. A repeat
scan after the child was placed on antireflux medication would show an absence of stomach reflux. B) In addition to diagnosing
reflux, the milk scan can also evaluate whether the stomach is emptying food into the small intestine at a normal rate. Delayed
gastric emptying increases stomach pressure and the possibility of reflux or vomiting. In the study shown, residual gastric radio-
activity decreased by 15% 1 hour after the labeled milk was ingested (decreasing from 1.370 × 105 counters per minute to
1.162 × 105). This 85% 1-hour residual is high, the normal being 67% or less. Prokinetic agents such as metoclopramide (Reglan)
not only decrease gastroesophageal reflux directly but also indirectly by increasing gastric emptying. Following effective medica-
tion, the rate of gastric emptying would be expected to increase, potentially to normal levels.
inflammation, allergy, or infection with organ- therapeutic discipline, and any plan of interven-
isms such as Candida or Helicobacter pylori (Van- tion must be potentially applicable across the
denplas et al., 2009). child’s environments (home, school, and thera-
pist’s office) to be truly effective. The treat-
ment team, which should include the child’s
MANAGING FEEDING PROBLEMS
caregiver, teacher, medical care provider(s),
Because feeding problems in children with and therapists, needs to prioritize the treat-
developmental disabilities usually result from ment goals and outline a plan integrating the
the interaction of multiple factors, managing child’s medical, nutritional, and developmental
such problems can be difficult, time-consuming, needs (Arvedson, 2008; Ayoob & Barresi, 2007;
and frustrating. Effective treatment usually Cooper-Brown et al., 2008). The primary care-
requires intervention from more than one giver, with team input, oversees the plan and
Figure 9.8. A pH probe study is done by passing a tube containing a pH electrode down the esophagus and positioning
it just above the stomach. If there is reflux, the pH should drop as the acid contents of the stomach reach the lower esopha-
gus, where the probe is placed. Shown here is an abnormal study with multiple episodes of low pH, occurring about half
an hour after feeding and when the child is laid down to sleep. (From Batshaw, M.L. [1991]. Your child has a disability:
A complete sourcebook of daily and medical care [p. 224]. Baltimore: Paul H. Brookes Publishing Co., Inc.; reprinted by
permission. Copyright © 1991 Mark L. Batshaw. Illustration copyright © 1991 by Lynn Reynolds. All rights reserved.)
monitors progress toward the goals, however, suppositories (Dupont et al., 2006; Loening-
open lines of communication among all team Baucke, 2005; Pijpers, Tabbers, Benninga, &
members are crucial. Components of a success- Berger, 2009). Enemas, such as Fleet Enema for
ful treatment strategy include 1) minimizing Children, also may help, but continuous use of
negative medical influences, 2) ensuring posi- enemas can interfere with normal rectal sphinc-
tioning for feeding, 3) facilitating oral-motor ter control and should be avoided. A combina-
function, 4) improving the mealtime environ- tion of the discussed approaches may be needed
ment, 5) promoting appetite, and 6) using alter- to establish regular bowel movements.
native methods of feeding (if needed). If GI irritation or GER is present, a num-
All of these components entail constant ber of therapeutic modalities are available,
monitoring of the child’s progress. Recogniz- including proper positioning, meal modifica-
ing the interaction among the medical, motor, tion, medications, and surgery (Vandenplas
and motivational components enables the team et al., 2009). The goal is to minimize gastric
to anticipate changes and treat several compo- irritation and protect the esophagus from
nents at the same time (Manno et al., 2005). reflux of stomach acid, either by reducing
Obviously, for a feeding program to be success- the amount of gastric contents or by decreas-
ful, the therapists need to be consistent in and ing stomach acid production. Small, frequent
mindful of how the skills they are forging will meals help to decrease the volume of food in
affect the child’s feeding function. the stomach at any one time. In addition, stud-
ies show that whey-based formulas improve
Minimize Negative stomach-emptying and decrease vomiting in
Medical Influences children with certain forms of spastic cerebral
Because feeding is a complex skill, a child’s feed- palsy (Fried et al., 1992). Similarly, a change in
ing function may be very sensitive to even minor formula to a different protein source or predi-
medical issues. Thus, parents’ and therapists’ gested protein may alleviate irritation in those
observations of subtle changes in the child’s children with milk or soy protein intolerance
behaviors, especially during and after feedings, (Vandenplas et al., 2009). Upright positioning
are important and should be shared with medi- and thickened feedings simply rely on gravity
cal care providers. Problems with GI irritation to help keep stomach contents from refluxing
and dysmotility can adversely affect respiratory into the esophagus. Recent research with pre-
and GI function, as well as the child’s level of mature infants shows that side-lying positions
comfort, and should be treated effectively. For can significantly increase the rate of empty-
example, Angelina’s extensor tone and posturing after a feeding, which then can be used to
ing with meals decreased significantly when she minimize reflux after the meal. As for medica-
had daily, easily passed stools. This improved tions, H2 antagonists (cimetidine [Tagamet],
her tolerance for sitting in a high chair, as well as ranitidine [Zantac], and famotidine [Pepcid]),
her ability to tolerate a larger volume of intake. as well as proton pump inhibitors (omeprazole
With better body-positioning, the stimulation [Prilosec], lansoprazole [Prevacid], and esome-
from spoon placement on her tongue was more prazole [Nexium]) decrease stomach acidity
effective in modifying her oral-motor pattern. and thereby lower the risk of reflux-caused
Constipation can be remediated by 1) establish- inflammation of the esophagus (Vandenplas et
ing regular toileting times to take advantage of al., 2009). Motility agents such as urecholine
the gastrocolic reflex that occurs after meals; (Bethanechol), metoclopramide (Reglan), and
2) providing adequate fluids to minimize dry, erythromycin increase the tone or movement in
cakey stools; and 3) encouraging active or pas- the esophageal sphincter and stomach, making
sive physical exercise. Dietary fiber in the form it harder for reflux to occur (Gariepy & Mousa,
of fruits, vegetables, and whole-grain foods can 2009).
also increase movement through the GI tract When GER cannot be controlled by posi-
(Lee et al., 2008), while more explicitly fiber- tioning and medication alone, surgery may be
intensive products (e.g., Metamucil, Benefi- needed to prevent problems associated with
ber) may also be helpful (Muller-Lissner et al., prolonged reflux. These problems include poor
2005). weight gain, recurrent aspiration pneumonia,
When constipation is persistent, additional esophageal stricture, and recurrent apneic epi-
measures may be needed. Laxatives and suppos- sodes (Gariepy & Mousa, 2009; Hassall, 2005).
itories can be used, including milk of magnesia, The most common surgical procedure is fun-
senna concentrate (Senokot), bisacodyl (Dulco- doplication, in which the top of the stomach is
lax), lactulose, polyethylene glycol, or glycerin wrapped around the opening of the esophagus
136 Eicher
(Figure 9.9). This decreases reflux while per- Facilitate Oral-Motor Function
mitting continued oral feeding. An alternative
to fundoplication is surgically placing a gas- Any technique that eases the child’s practice of
trojejunal (G-J) tube that allows access to an oral motor pattern correctly facilitates oral-
the stomach as well as the jejunum, permitting motor function. It may consist of oral motor
some portion of the feeds to bypass the stom- stimulation or desensitization without food,
ach, thereby decreasing the risk of reflux (Fig- specific placement of food, or manipulation of
ure 9.10; Gariepy & Mousa, 2009). the food to make it easier for the child to con-
trol. Recent research with premature infants
Ensure Proper has demonstrated that providing patterned
orocutaneous stimulation that mimics the
Positioning for Feeding temporal organization of sucking can enhance
Feeding is a flexor activity that requires good the premature infant’s acquisition of a func-
breath support. Appropriate positioning maxi- tional suckle pattern, and thereby decrease
mizes the child’s ability to breathe as well as the time needed to establish nipple feedings,
providing the best alignment to optimize func- and then attain full oral feeding (Miller, 2009;
tion of the muscles involved in the swallowing Poore, Zimmerman, Barlow, Wang, & Gu,
process (Larnert & Ekberg, 1995; Sheppard 2008) In older infants, chin support can often
& Fletcher, 2007). The child should be firmly facilitate transition of tongue pattern from a
supported though the hips and trunk to pro- suckle to sucking, and later to tongue lateral-
vide a stable base. The head and neck should ization (Gisel, 2008). Chewing can be enhanced
be aligned in a neutral (upright) position, which
decreases extension through the oral muscula-
ture while maintaining an open airway (Figure
9.11). Such positioning improves coordination
and control of the steps in oral-motor prepa-
ration and transport. This, in turn, results in
more positive feedback to the child and care-
giver as a result of good feeding experiences
(Kerwin & Eicher, 2004; Manno et al., 2005). If
the child does not appear comfortable or appro-
priately supported for feeding in the currently
constructed chair, the child’s occupational or
physical therapist can make changes to improve
the support and alignment.
Figure 9.10. Enteral feeding tubes. The nasogastric (NG)

tube is placed through the nostril and into the stomach. An
NG tube is helpful when problems with the child’s oral func-
tion are the primary obstacle to adequate nutrition and are
temporary. A gastrojejunal (G-J) tube allows access to the
stomach as well as directly into the intestine. The G-J tube
has 2 openings, or ports, and two parts of tubing. The G port
connects with the G tube, which empties the stomach. The J
port connects with the J tube, which empties into the intes-
Figure 9.9. In the surgical procedure of fundoplication, the tine. A G-J tube can be helpful when the stomach is unable
upper stomach is wrapped around the lower esophagus to to tolerate the quantity of nutrients needed for adequate
create a muscular valve that prevents reflux. growth.
by placing food between the upper and lower Improve the Mealtime Environment
back teeth. This stimulates crushing move-
ments of the jaw as well as lateral movement of Eating requires more coordination among
the tongue, both of which are needed to mas- muscle groups than any other motor activity,
ter a munching pattern. Another technique is including speech. Failure to “perform the work”
manipulating food textures to facilitate safe, competently can result in aspiration, which is
controlled swallowing (Manno et al., 2005). unpleasant, frightening, and dangerous. There-
Thickening of liquids slows their rate of flow, fore, it is important to make eating as easy as
allowing more time for the child to organize possible (Kerwin & Eicher, 2004). This can be
and initiate a swallow. Thickening agents accomplished by increasing the child’s focus on
(e.g., Thick-It, instant pudding powders) can the meal and including desirable foods in each
transform any thin liquid into a nectar-, honey-, meal that are easier to control. Let the child
or milkshake-like consistency. Almost any food know that mealtime is coming so that he or she
can be finely chopped or puréed to a texture can prepare for the “work” to be done. This
that the child can more competently manage. may entail a premealtime routine of going to
It is important to remember that the pri- a special corner of the room and putting on a
mary goal of eating is to achieve adequate nutri- bib or napkin or performing relaxation therapy
tion. Thus, when a child is first learning to accept followed by oral stimulation to get the needed
a higher texture of foods, these foods should be muscles ready for eating. Children with feed-
presented during snack time, when volumes are ing difficulties usually eat better in one-to-one
smaller. During this transition period, easier situations or in small groups because there are
textures should be used at mealtimes to ensure fewer distractions, aiding the ability to focus
consumption of adequate calories for continued on the eating process (Williams et al., 2010).
growth. A speech-language pathologist or an Parental provision of undivided attention also
occupational therapist can provide information makes mealtimes more reinforcing.
about the child’s oral-motor patterns and the When a child is eating well and interested
appropriate food textures to facilitate improve- in self-feeding, a number of adaptive devices can
ment in feeding efforts. promote independence in eating. These include
A B
Figure 9.11. A) A child with a neutral pelvis and adequate trunk support to allow neutral positioning of the head and
neck. Note how the ears and shoulders align in the same plane as the hips. B) A child is seated with a posterior pelvic
tilt, which decreases lordosis, increases kyphosis, and throws him into a head-forward posture. Note how in this position
ear, shoulder, and hip are out of alignment.
138 Eicher
bowls with high sides, spoons with built-up or or a G tube, feedings can be given as single
curved handles, and cups with rocker bottoms. large volumes (boluses) of 3–8 ounces every
The satisfaction that children obtain from eat- 3–6 hours or as a continuous drip throughout
ing can be increased by social attention during the day or overnight. J tube feedings must be
the meal or earning time for a favorite activity given continuously, not as a bolus. The advan-
after the meal is completed. tage of large-volume feedings is that they do
Social interaction is an important part of not interfere with typical daily activities. The
mealtime as well, although it can be distracting. feeding itself takes about 30 minutes. As men-
When peer interaction is the focus, it may be tioned previously, however, the large volume
helpful to make the meal small (e.g., a snack) may be difficult for the child to tolerate and
and to provide less challenging foods that do may lead to vomiting or abdominal discom-
not require as much concentration for the child fort. If this happens, continuous drip feedings
to successfully eat. can be instituted. A Kangaroo or similar type
of automated pump is then used to deliver the
Promote Appetite formula at a set rate. Sometimes tube feedings
Some children have little or no appetite regard- are used to supplement oral feedings. In this
less of whether they are receiving enough case, tube feedings generally are used at night
calories to progress along their growth curve. so that the child remains hungry for oral feed-
This may be caused by an underlying medical ings during the day. A nutritionist can recom-
condition, such as a kidney or metabolic disor- mend the appropriate type of enteral formula as
der or zinc deficiency, or it may be a sign that well as the amount of supplementation neces-
a chronic medical condition (e.g., diabetes) is sary to provide a nutritionally balanced intake
inadequately controlled. Alternatively, some that meets the child’s daily caloric needs.
children’s appetite may be poor as a conse-
quence of being satiated by their tube or sup-
SUMMARY
plemental feedings (Linscheid, 2006).
There are differing opinions about whether Feeding a child with a developmental disability
day versus night, or bolus versus continuous, often requires a number of creative approaches
tube feedings are better for promoting appe- and the involvement of a variety of health care
tite (Dsilna, Christensson, Alfredsson, Lager- professionals (Manno et al., 2005). When well-
crantz, & Blennow, 2005; Dsilna, Christensson, integrated, these methods not only allow the
Gustafsson, Lagercrantz, & Alfredsson, 2008). child to have optimal oral feeding experiences
Actually, the important thing is to look at how with their positive social and developmen-
the child is tolerating the tube feedings. If the tal ramifications but also allow him or her to
child retches, gags, vomits, or needs time to receive the necessary combination of nutrients
recover after tube feedings, he or she is not tol- and fluids needed to grow and remain healthy.
erating them. Sometimes it takes hours for the
child to feel comfortable enough to eat orally
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10 Hearing and Deafness
Pamela Buethe, Betty R. Vohr, and Gilbert R. Herer

■ Be able to describe the components of the auditory pathway
■ Know the different types of hearing loss, their causes, and their incidence rates
■ Gain an understanding of newborn hearing screening
■ Know the age-appropriate hearing screen and diagnostic tests
■ Understand the importance of family-centered early intervention, communica-
tion options, and amplification options for children with hearing loss
■ Be able to discuss the educational options and outcomes for children with
hearing loss
The sense of hearing is integral to one of the surrounding a child born with a severe hearing
most fundamental of human activities: the loss. These issues are summarized in Table 10.1.
use of language for communication. Through
hearing children acquire a linguistic system to ■ ■ ■ MATT
both transmit and receive information, express
thoughts and feelings, learn, and influence the Matt, a healthy 7½-pound baby who was born
behaviors of their parents and peers. Problems to hearing parents and cared for in a well-infant
with hearing can negatively affect a child in the nursery, failed his newborn hearing screen with
areas of language and speech, social-emotional otoacoustic emissions (OAE) at 2 days of age and
development, literacy, and learning abilities in a rescreen at 4 weeks of age. He was referred for
school; therefore, early identification and inter- a diagnostic auditory brainstem response (ABR)
vention are imperative for children with hear-
test that revealed no measurable responses in his
ing loss and their families. This chapter reviews
left ear and a moderate to severe sensorineural
the human auditory system, hearing loss and its
effects on the development of a child’s commu- hearing loss in his right ear at 6 weeks of age.
nication skills, and various approaches to treat- Several interventions were initiated immedi-
ing and educating children with hearing loss. ately, including 1) taking earmold impressions
The following story illustrates the array in preparation for hearing aid use, 2) providing
of opportunities, needs, and circumstances Matt’s parents with information about hearing
141
142 Buethe, Vohr, and Herer
loss, 3) a referral to early intervention, and 4) frequency modulation (FM) system and a wire-
a medical evaluation by his physician. It was less microphone for his parents’ use. The FM
explained to his parents that a consultation with system coupled with Matt’s hearing aids enabled
an otolaryngologist would be required and that him to hear his parents’ speech message regard-
seeking genetic counseling was recommended less of their location in the room or amount of
to explore the origin of his hearing loss. Matt impeding background noise. Matt, his mother,
underwent genetic screening for Connexin 26 and his 3-year-old brother (who has normal hear-
deafness, which yielded positive results, identifying) were seen for weekly early intervention ses-
ing it as the cause of Matt’s hearing loss. sions as part of his individualized family service
At 3 months of age, Matt was fitted with plan (IFSP), established with the family and their
behind-the-ear hearing aids that included a state’s early intervention infants and toddlers
program in their county of residence. Matt’s inter-
vention services were designed to demonstrate
Table 10.1. Principles of an effective early hearing
detection and intervention (EHDI) system auditory and speech-language activities for use
at home, share information about hearing and
1. All infants should have access to hearing screen-
ing using a physiologic measure at no later than hearing loss, and provide continuing family sup-
1 month of age. port. Because Connexin 26 deafness can cause
2. All infants who do not pass the initial hearing progressive hearing loss, Matt was monitored
screening and the subsequent rescreening should
have appropriate audiological and medical evalu- with audiological evaluations every 3 months.
ations to confirm the presence of hearing loss at Matt received weekly home visits from an
no later than 3 months of age. early intervention professional (e.g., a teacher of
3. All infants with confirmed permanent hearing loss the deaf and hard of hearing), who focused on
should receive early intervention services as soon
as possible after diagnosis but at no later than 6 auditory-, speech-, and language-developmental
months of age. A simplified, single point of entry skills until age 3, when he was enrolled in a
into an intervention system that is appropriate for preschool program with an individualized edu-
children with hearing loss is optimal.
cation program (IEP) to meet his educational
4. The EHDI system should be family centered with
infant and family rights and privacy guaranteed needs. At age 3, he lost all hearing in his right
through informed choice, shared decision- ear, due to his Connexin 26 deafness.
making, and parental consent in accordance with
Matt was deemed an appropriate can-
state and federal guidelines. Families should
have access to information about all intervention didate for a cochlear implant in the right ear,
and treatment options and counseling regarding which he received three months later. Matt
hearing loss.
entered kindergarten with his same-age, typical-
5. The child and family should have immediate
access to high-quality technology including hear- hearing peers and he continued receiving sup-
ing aids, cochlear implants, and other assistive port services in speech-language development.
devices when appropriate. During his first three school-age years, Matt
6. All infants and children should be monitored for attended general education classes while
hearing loss in the medical home. Continued
assessment of communication development receiving support services, such as an FM sys-
should be provided by appropriate professionals tem and speech-language therapy. Presently,
to all children with or without risk indicators for Matt’s speech is as intelligible and fluent as that
hearing loss.
of his same-age peers; however, receptive com-
7. Appropriate interdisciplinary intervention
programs for infants with hearing loss and their munication difficulties occur for him in group
families should be provided by professionals who situations, including in his classroom. Matt
are knowledgeable about childhood hearing
sometimes misses key words and phrases that
loss. Intervention programs should recognize and
build on strengths, informed choices, traditions, provide contextual meaning, and as a result, his
and cultural beliefs of the families. responses are sometimes off-topic. Through his
8. Information systems should be designed and parents’ advocacy and his school’s cooperation,
implemented to interface with electronic health
charts and should be used to measure outcomes these circumstances are addressed in school
and report the effectiveness of EHDI services through prevention/intervention services of a
at the patient, practice, community, state, and speech-language pathologist. Matt has experi-
federal levels.
enced the benefit of a proficient and successful
Reproduced with permission from Pediatrics, Volume
120, Pages 898–921, Copyright 2007 by the American
early hearing detection and intervention (EHDI)
Academy of Pediatrics. system. This chapter will discuss in depth the
Hearing and Deafness 143
characteristics and interventions that contribute results in a hearing loss, whereas a central audi-
to a good outcome. tory problem interferes with the interpretation
of what is heard.
The 1-3-6 Guidelines for The peripheral auditory system is divided
into the external, middle, and inner ear. The
Screening and Diagnosis external ear includes the auricle and the ear
EHDI systems have been established by fed- canal (Figure 10.1). The auricle channels sound
eral and state governmental agencies as a part into the ear canal and thence to the middle ear.
of the public health system that emphasizes The skin of the ear canal contains glands that
the importance of newborn hearing screen- produce cerumen (earwax). At the end of the
ing, diagnosis of hearing loss, family support, ear canal lies the eardrum, or tympanic mem-
early intervention, and medical home services brane, which separates the external ear from
(Houston, Behl, White, & Forsman, 2010). The the middle ear. The tympanic membrane is
Joint Committee on Infant Hearing (JCIH) attached to the first of a series of three small
2007 recommendations regarding screen- bones of the middle ear—the malleus, incus,
ing and diagnosis of hearing loss are that all and stapes—which are collectively called the
infants be screened by 1 month, diagnosed by 3 ossicles. The end of the ossicular chain, the
months, and start intervention by 6 months of stapes footplate, is attached by ligaments to
age. These goals were accomplished in Matt’s the oval window, which serves as the boundary
case. The 1-3-6 goals are equally important for between the middle ear and the bony housing
infants with mild loss, unilateral loss, and severe of the inner ear, the cochlea.
to profound deafness. When sound waves strike the tympanic
membrane, the membrane vibrates and thus
sets the ossicular chain into motion. Because
THE HEARING SYSTEM
the tympanic membrane has a larger surface
The anatomical mechanism for hearing rep- area than the oval window and because the ossi-
resents a complex system (Moller, 2006). It is cles act as a lever system, the incoming sound
divided into a peripheral auditory mechanism, pressure is amplified by about 30 decibels (dB).
which starts at the external ear and ends at The eustachian tube is also part of the
the auditory nerve, and a central auditory sys- middle ear. This tube runs from the anterior
tem, which extends from the auditory nerve to wall of the middle-ear space down to the naso-
the brain. A disorder in the peripheral system pharynx. The eustachian tube is usually closed
Figure 10.1. Structure of the ear. The middle ear is composed of the tympanic membrane, or eardrum, and the
three ear bones: the malleus, the incus, and the stapes. The stapes footplate lies on the oval window, the gateway
to the inner ear. The inner ear contains the cochlea and the vestibular (balance) apparatus, collectively called the
labyrinth.
Figure 10.2. The cochlea. Cross-section of the cochlea, showing the scala vestibuli, the scala
media, the scala tympani, and the organ of Corti.
but opens during a swallow or yawn, allowing a the cochlea houses the sensory organ of hearing
small amount of air to pass between the naso- (Figure 10.2). The actual end organ of hearing,
pharynx and the middle ear to equalize its air the organ of Corti, consists of multiple rows of
pressure with that in the external canal. delicate hair cells along the organ—three to five
The inner ear is composed of the vestibular rows of outer hair cells and one row of inner—
system and the cochlea. The vestibular system that serve as the receptors for the auditory nerve.
houses the sensory organ of balance, whereas The cochlea is arranged tonotopically; that is,
Figure 10.3. The cochlea has been “unfolded” for simplicity. Sound vibrations from the
stapes are transmitted as waves in the perilymph. This leads to the displacement of hair
cells in the organ of Corti. These hair cells lie above and attach to the auditory nerve,
and the impulses generated are fed to the brain. High-frequency sounds stimulate hair
cells close to the oval window, whereas low-frequency sounds stimulate the middle and
top end of the organ. The sound wave in the perilymph is rapidly dissipated through the
round window, and the cochlea is ready to accept a new set of vibrations.
hair cells located at the base of the cochlea, near specialized technology. OAE instrumentation is
the oval window, respond more specifically used in newborn hearing screening programs, in
to high-frequency sounds (above 2,000 Hz), research, and as a diagnostic measurement with
whereas those in the middle and top respond pediatric and adult populations.
more to gradually lower-frequency sounds From the inner ear, sound is carried to
(Figure 10.3). The organ of Corti converts the the auditory cortex in the temporal lobe of the
mechanical energy arriving from the middle brain. The route from ear to cortex involves at
ear into electrical energy, or the nerve impulse. least four neural relay stations (Figure 10.4).
As the ossicular chain is activated by the vibrat- The final (fifth) destination is the auditory cor-
ing tympanic membrane, the movement is tex, where sound can be associated with other
transmitted through the cochlear chambers and sensory information and memory to permit
results in release of neurotransmitters from the perception and interpretation. Note that the
hair cells. This generates a nerve impulse that is auditory cortex is not needed to perceive sound,
transmitted via the ascending auditory pathway but it is needed to interpret language.
to the brain. Most of the nerve impulses from the
right cochlea cross over to ascend the left central
DEFINING SOUND
auditory pathway to the left portion of the brain,
and vice versa for impulses from the left ear When we hear a sound, we are actually process-
(Figure 10.4). When stimulated by an incoming ing and interpreting a pattern of vibrating air
acoustic signal, the outer hair cells produce very molecules. An initial vibration sets successive
soft level sounds called otoacoustic emissions rows of air molecules into motion in oscillating
that can be measured in the outer ear canal with concentric circles, or waves. This movement of
Figure 10.4. The auditory pathway and auditory brainstem responses (ABRs). The auditory nerve carries
sounds to the cochlear nuclei in the medullary portion of the brainstem. Here, most impulses cross over to
the superior olivary body and then ascend to the opposite inferior colliculus and ultimately the sensory cor-
tex, where the sound is perceived. The function of this pathway can be measured by ABR testing. Each wave
corresponds to a higher level of the pathway (denoted by Roman numerals in the pathway and in the report-
ing of ABRs). (Key: Shaded arrows indicate the direction of travel of the nerve impulse along the pathway.)
Figure 10.5. Frequency and intensity of sound waves. The frequency of a sound, or its pitch, is expressed as cycles per second,
or hertz (Hz). Middle C is 256 Hz; one octave higher (high C) is 512 Hz. Intensity of sound is expressed as decibels (dB) and varies
from a whisper at 20 dB to a rock concert at 100 dB or more.
the molecules is described in terms of the fre- speech (because of the relative loudness of
quency with which the oscillations occur and vowels) but may not be able to understand
the amplitude of the oscillations from the rest- it because of the softness of voiceless con-
ing point (Figure 10.5). sonants. The person may hear only parts of
The frequency of a sound is perceived as words and therefore would find it difficult to
pitch and is measured in cycles per second, or follow a conversation.
hertz (Hz). The more cycles that occur per
second, the higher the frequency, or pitch, of
the sound. Middle C on the musical scale is 256
DEFINING HEARING LOSS
Hz, whereas the ring of a cellular telephone Categories of degree of hearing loss are mini-
is approximately 2,000 Hz. The human ear mal, mild, moderate, severe, and profound. Each
can detect frequencies ranging from 20 Hz to of these terms is often accompanied by specific
20,000 Hz, but it is most sensitive to sounds in threshold levels of loss in the frequency region
the 500 Hz to 6,000 Hz range, in which most for speech; that is, the average threshold loss for
of the sounds of speech occur (Emanuel & 500 Hz, 1,000 Hz, and 2,000 Hz (see the sec-
Letowski, 2009). tion titled Degrees of Hearing Loss for more
The amplitude of the molecular oscilla- information). These terms are meant to con-
tion is perceived as the loudness, or intensity, vey the extent of unilateral loss (for one ear) or
of the sound and is measured in decibels. The bilateral loss (for both ears) and are useful in
softest sound an individual with typical hear- explaining to parents how much of speech their
ing can usually detect is defined as 0 dB hear- child can expect to hear.
ing level (HL). The intensity of a whisper is Hard of hearing is a term frequently used
about 20 dB HL, typical conversation occurs for individuals with losses of 25–70 dB HL for
at about 40 dB HL, and a person’s shout reg- the better ear. Children who are hard of hearing
isters at about 70 dB HL. A lawn mower or benefit greatly from amplification through hear-
chain saw is measured at about 100 dB HL ing aids and communicate primarily through
(Northern & Downs, 2002). spoken language, as described in Matt’s case
Speech, however, does not occur at a sin- study at the beginning of the chapter.
gle intensity or frequency. In general, vowel Deaf refers to individuals with profound
sounds are low frequency in nature and more losses, those greater than 70 dB HL. Chil-
intense, whereas consonants, particularly the dren with a profound hearing loss may receive
voiceless consonants (e.g., /s/, /sh/, /t/, /th/ limited benefits through the use of hearing
as in thin, /k/, /p/, and /h/), are composed of aids; they may typically only hear the rhythm
higher frequencies and are the least intense of speech, their own voice, and environmen-
(Figure 10.6). Furthermore, during a conver- tal sounds (Boothroyd, 2008); however, with a
sation, the speaker will change the intensity cochlear implant, they may acquire very effec-
of speech by talking in a louder or softer voice tive oral speech-language abilities.
to express emotion or to emphasize some- Each child’s hearing capacity varies as a
thing. This circumstance can adversely affect consequence of listening circumstances. These
an individual with a hearing loss, especially descriptive terms, therefore, may only partially
if the loss is not consistent at all frequencies. explain the listening experiences of a particular
If an individual has a high-frequency hearing child. For example, a child with a mild hearing
loss but normal hearing in the low-frequency loss in both ears may encounter as much diffi-
region, that individual will be able to hear culty in listening as a child with a moderate loss.
Figure 10.6. Frequency spectrum of familiar sounds plotted on a standard audiogram. The shaded area con-
tains most of the sound elements of speech. (From Northern, J.L., & Downs, M.P. [2002]. Hearing in children
[5th ed., p. 18]. Philadelphia, PA: Lippincott, Williams & Wilkins. http://www.lww.com Copyright © Lippincott
Williams & Wilkins. Reprinted by permission.)
Types of Hearing Loss of conductive and sensorineural loss as a result

of outer and/or middle, and inner ear malfunc-
Temporary conductive hearing loss (CHL) tion. Neural hearing disorders are character-
resulting from dysfunction of the external and/ ized by normal cochlear outer hair cell function
or middle ear can be caused by multiple factors, and abnormal inner hair cell function and/or
such as a middle ear infection or earwax occlud- the auditory nerve.
ing the ear canal. Other factors are described in In addition to being classified as sensori-
the section titled Causes of Hearing Loss. neural, conductive, mixed, or neural, permanent
Permanent hearing loss comprises four hearing loss may be unilateral or bilateral. Uni-
types: 1) sensorineural, 2) permanent conduc- lateral hearing loss affects only one ear, with the
tive, 3) mixed loss, and 4) neural hearing dis- other ear having normal hearing; the amount of
orders. A sensorineural hearing loss (SNHL) hearing loss in the affected ear can range from
results from inner ear malfunction of the mild to profound. Despite having one ear with
cochlea. Permanent CHL results from mal- normal hearing, children with unilateral hear-
formations of the outer and/or middle ear that ing loss may experience difficulties understand-
impede the conduction of sound energy to the ing speech in noisy environments and localizing
inner ear. Mixed loss involves the combination to the direction of a sound source. Unilateral
hearing loss may also adversely affect a child’s of the hearing loss is the best measure for a spe-
speech and language development, interper- cific child and should accompany any interpre-
sonal relationships, and educational achieve- tation of audiological testing.
ment (Holstrum, Gaffney, Gravel, Oyler, &
Ross, 2008) as a result of receptive communica- Effects of Hearing Loss on
tion difficulties. Functional Communication
Hearing losses can also be described as
A minimal loss typically has no significant effect
stable or progressive. Progressive hearing losses
on development, especially if the loss is tempo-
can be challenging to recognize early and are
rary, such as CHL that occurs with excessive
often associated with genetic factors, intrauter-
earwax accumulation.
ine infections, or syndromes related to hearing
A child with a mild bilateral loss typically
loss (Mori, Westerberg, Atashband, & Kozak,
has difficulty hearing distant sounds or soft
2008; Ravecca et al., 2005).
speech, missing 25%–40% of speech at typi-
cal conversational loudness. The child has dif-
Degrees of Hearing Loss ficulty perceiving the unvoiced consonants /s/,
In general, defining the degree of hearing loss is /p/, /t/, /k/, /th/ (as in thin), /f/, and /sh/, which
meant to predict the difficulty a child will have are soft, high-frequency sounds. As a result,
in understanding speech through hearing alone the child may miss some of the content of class
and, therefore, in acquiring language and infor- and home discussions and confuse forms of lan-
mation through hearing. Some believe that the guage that depend on these sounds (e.g., plurals
more severe the bilateral hearing loss, the more or possessives). A hearing aid is often a consid-
the individual is apt to rely on vision for lan- eration for a child with a permanent bilateral or
guage acquisition and learning; similarly, the unilateral mild loss.
less severe the loss, the more effective ampli- Children with a moderate, moderately
fication with hearing aids is likely to be. These severe, or severe bilateral hearing loss may hear
are generalizations, however. Many variables conversational level speech as a whisper or sim-
other than the degree of hearing loss affect the ply detect sound when people speak without
way a child can acquire language, learn informa- being able to discern the actual words. These
tion, and progress educationally. These include degrees of loss affect the ability to hear even loud
age of onset, the threshold configuration of the conversation without intervention. If the loss is
hearing loss, supra-threshold speech under- permanent, hearing aid use is essential. None-
standing, general intelligence, and especially theless, no assumptions can be made about the
family support. Therefore, different language vocabulary, speech production, or voice quality
teaching methods, intervention strategies, and of children with these degrees of hearing loss.
educational formats may be required for chil- Speech-language evaluations are essential in
dren with the same degree of hearing loss. identifying these behaviors. Learning problems
Degree of hearing loss is categorized from often result, however, from the significantly
minimal to profound using a classification scale. reduced auditory input associated with a mod-
For children, a minimal loss ranges from 15–25 erate or severe hearing loss. Academic supports,
dB HL; a mild loss, from 26–40 dB HL; a mod- hearing aids, classroom amplification, speech-
erate loss, from 41–55 dB HL; a moderately language therapy, tutoring, and possibly special
severe loss, from 56–70 dB HL; a severe loss, education services should be considered, based
from 71–90 dB HL; and a profound loss, from on the needs of the individual child.
91 dB HL and greater (Clark, 1981). As noted, A child with a profound bilateral hearing
the degree of hearing loss is often determined loss may hear very loud environmental sounds
by measuring and averaging the minimum nearby without amplification but cannot hear
response levels at three test frequencies (500 speech of typical conversational volume. Even
Hz, 1,000 Hz, and 2,000 Hz). Generalizations with amplification, certain consonant sounds
of ranges of hearing levels, albeit convenient, are likely to be missed. If the loss occurs before
often result in misperceptions of the conse- 2 years of age, language and speech may not
quences of the loss. For example, a so-called develop spontaneously, unless identification/
mild bilateral hearing loss has potentially seri- intervention begins prior to 6 months of age
ous implications for the language and emotional (Yoshinaga-Itano, 2003).
development of a preverbal child, whereas a Children with profound bilateral losses
similar loss in an adolescent may have less of an may be helped by powerful hearing aids to stay
impact. A description of the functional impact in contact with the auditory world. They most
often benefit from cochlear implantation that external ear canal. When the ear canal opening
provides significant opportunities for spoken- is present but abnormally narrow it is called ste-
language communication. Spoken language, nosis (Stach & Ramachandran, 2008). Children
however, is not the sole language option avail- with atresia can have significant conductive hear-
able to children with a profound hearing loss and ing loss of about 60 dB. Surgical intervention to
their families. Visual communication strategies, open the ear canal and remediate the hearing
the most prominent example of which is sign loss may be an option for children with atresia,
language, can be very important to a child with but not until a child is older and skull growth is
profound hearing loss. Many parents who are complete (Stach & Ramachandran, 2008).
deaf opt to raise their child in a signing environ-
ment to foster the development of the family’s Genetic Causes
language system. The need for visual communi- In approximately 80% of children with heredi-
cation is not limited to children with profound tary hearing loss, the hearing loss is inherited as
deafness. Some children with severe losses expe- an autosomal recessive trait (see Chapter 1)
rience enough difficulty in receiving and pro-
cessing auditory information that they benefit
from visual communication as well.
Table 10.2. Risk indicators associated with per-
manent congenital, delayed-onset, or progressive
CAUSES OF HEARING LOSS hearing loss in childhood
1. Caregiver concern* regarding hearing,
Genetic, biologic, and environmental risk indi- speech, language, or developmental delay.
cators are associated with hearing loss, as shown 2. Family history* of permanent childhood
in Table 10.2 (JCIH, 2007). hearing loss.
Hearing losses that are present at birth 3. Neonatal intensive care of more than 5
are defined as being “congenital,” regardless days or any of the following regardless of length
of their causation, whereas those that develop of stay: ECMO,* assisted ventilation, expo-
after birth are described as “acquired.” sure to ototoxic medications (gentamicin and
tobramycin) or loop diuretics (furosemide/Lasix),
SNHL in children can be congenital or and hyperbilirubinemia that requires exchange
acquired, occurring as a result of genetic fac- transfusion.
tors, an event or injury in utero, perinatal com- 4. In utero infections, such as CMV,* herpes,
plications, or an occurrence after birth (Smith, rubella, syphilis, and toxoplasmosis.
Bale, & White, 2005). At least half of SNHL in 5. Craniofacial anomalies, including those
children is caused by genetic factors, and these that involve the pinna, ear canal, ear tags, ear
pits, and temporal bone anomalies.
are mostly isolated disabilities (Nance, 2003;
6. Physical findings, such as white forelock,
Norris et al., 2006). For children with SNHL of that are associated with a syndrome known to
nongenetic origin, it is estimated that approxi- include a sensorineural or permanent conduc-
mately one third have additional developmental tive hearing loss.
disabilities. Nongenetic hearing loss (congenital 7. Syndromes associated with congenital
or acquired) can result from prenatal and post- hearing loss or progressive or late-onset hearing
natal factors related to infections, anoxic brain loss,* such as neurofibromatosis, osteopetrosis,
and Usher syndrome; other frequently identi-
injury, prematurity, physical trauma, excessively fied syndromes include Waardenburg, Alport,
loud noise, or exposure to ototoxic agents (e.g., Pendred, and Jervell and Lange-Nielson.
certain antibiotics). 8. Neurodegenerative disorders, such as
CHL also can be congenital or acquired. Hunter syndrome, or sensory motor neuropa-
Although CHL can result from malformations thies, such as Friedreich’s ataxia and Charcot-
Marie-Tooth syndrome.
of the outer and/or middle ear (e.g., in Down
9. Culture-positive postnatal infections
syndrome), it is more often due to middle ear associated with sensorineural hearing loss,*
infections (Stach & Ramachandran, 2008). including confirmed bacterial and viral (espe-
Congenital external ear (auricle) abnormali- cially herpes viruses and varicella) meningitis.
ties, such as structural deformities, may occur 10. Head trauma, especially basal skull/tem-
unilaterally or bilaterally, and can be character- poral bone fracture* that requires hospitaliza-
ized by total or partial failure of auricle devel- tion.
opment. If the auricle develops only partially, it 11. Chemotherapy.*
is called microtia; if there is complete absence Reproduced with permission from Pediatrics, Volume
120, Pages 898–921, Copyright 2007 by the American
of development, it is called anotia (Artunduaga Academy of Pediatrics.
et al., 2009). Atresia often occurs with microtia Note: Indicators marked with an asterix are more likely to
and refers to the absence of the opening to the be delayed-onset or progressive.
and is not associated with a syndrome; that is, multiple anomalies (e.g., CHARGE syndrome,
hearing loss is the child’s sole disability. The caused by a mutation in the CHD7 gene).
percentage of deaf or hard of hearing children According to the Centers for Disease Con-
born to hearing parents is about 92%; only 8% trol and Prevention, the incidence of cleft lip
have one or more parents who are deaf or hard and/or cleft palate is about 1 in 600 live births,
of hearing (Mitchell & Karchmer, 2004). About making it the most common congenital birth
half of all childhood nonsyndromic autosomal defect (Witt, 2008). Of children with a cleft
recessive hearing losses are caused by mutations palate, 50%–90% are susceptible to significant
in the Connexin 26 (Cx26) gene (GJB2/DFNB1; and persistent middle-ear infections with risk
Nance, 2003; Norris et al., 2006). Other heredi- of CHL (Sheahan et al., 2003). Because of the
tary disorders can affect the formation or func- absence of closure of the palate, the tensor veli
tion of any part of the hearing mechanism palati muscle does not have a normal midline
(Wolf, 2010). Children with syndromic hearing attachment and functions poorly in opening
loss have this loss as part of a genetic condition the eustachian tube, predisposing the child to
with broader physical and developmental abnor- these infections (Witt, 2008). Close monitoring
malities. There are more than 200 documented of hearing in a child with cleft palate is impor-
inherited syndromes associated with deafness, tant. Also, surgical myringotomy and tym-
some of which manifest later in life. Table 10.3 panostomy (pressure equalizing, or PE) tube
describes some of the most common genetic dis- insertions are often necessary to remediate the
orders associated with hearing loss. middle ear condition and CHL.
Cleft palate, in which the roof of the
mouth fails to close during embryological
Pre-, Peri-, and Postnatal Factors
development, is a malformation with associated
CHL. It has a multifactorial inheritance pattern Environmental exposures to viruses, bacteria,
and may occur alone or together with cleft lip. and other toxins such as drugs prior to or fol-
It may also be part of a genetic syndrome with lowing birth can result in SNHL (Roizen, 2003).
Table 10.3. Examples of genetic disorders associated with hearing loss

Syndrome Inheritance pattern Type of hearing loss Other characteristics
Treacher Collins syndrome Autosomal dominant Conductive or mixed Abnormal facial appear-
ance, deformed
auricles, defects of ear
canal and middle ear
Waardenburg syndrome Autosomal dominant Sensorineural, stable Unusual facial appear-
ance, irises of different
colors, white forelock,
absent organ of Corti
Bardet-Biedl syndrome Autosomal recessive Sensorineural, progres- Retinitis pigmentosa,
sive intellectual disability,
obesity, extra fingers
or toes
Usher syndrome Autosomal recessive Sensorineural; progres- Retinitis pigmentosa;
sive in type III central nervous system
effects, including
vertigo, loss of sense
of smell, intellectual
disability, epilepsy; half
have psychosis
CHARGE association Autosomal dominant Mixed, progressive Eye, gastrointestinal, and
other malformations
Down syndrome Chromosomal Conductive; occasionally Small auricles, narrow ear
sensorineural canals, high incidence
of middle-ear infec-
tions
Trisomy 13, trisomy 18 Chromosomal Sensorineural Central nervous system
malformations
Cleft palate Multifactorial Conductive Cleft lip
Key: CHARGE association, coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital
abnormalities, and ear malformations with or without hearing loss.
Neonates with severe respiratory or car- bilateral SNHL due to damage to the sensory
diopulmonary disease requiring extracorporeal cells within the cochlea. The damage is dose-
membrane oxygenation (ECMO) therapy, treat- dependent, and the hearing loss is usually in
ment with a mechanical device that bypasses the the high frequencies. As we use knowledge of
heart and lung, are at risk for developing SNHL the human genome to develop personalized
as a result of treatment (Fligor et al., 2005). medicine, we have recognized that an inherited
Very low birth weight infants (born weigh- mutation in the mitochondrial 12S ribosomal
ing less than 1,500 grams) have an increased risk RNA gene results in an increased risk of oto-
of perinatal morbidities that predispose them to toxicity from antibiotics (Nance, 2003).
SNHL, including hyperbilirubinemia (elevated Chemotherapy drugs used to treat cancer,
bilirubin level), intracranial hemorrhage, and such as cisplatin and carboplatin, also can cause
exposure to systemic antibiotics to treat sepsis bilateral high-frequency SNHL. In a retrospec-
(blood poisoning). tive study of 134 children, ranged in age by
Whereas all infants should undergo a new- 1.5 weeks to 24 years, the results showed that
born hearing screening, infants remaining in a hearing loss increased in severity based on mul-
neonatal intensive care unit (NICU) for more tiple factors, including the cumulative dose of
than 5 days should undergo an additional audiol- cisplatin, concurrent treatment with carboplatin,
ogy diagnostic assessment by 24–30 months of radiation therapy exposure, and the younger age
age to detect any SNHL that may be acquired of the child (Chang & Chinosornvatana, 2010).
(JCIH, 2007). In addition, parental, health care Children receiving aminoglycosides or
provider, or education provider concerns regard- undergoing chemotherapy should receive pre-
ing a child’s hearing abilities should result in a treatment audiological testing to establish base-
prompt referral for evaluation for any child, at line auditory test results. They should undergo
any age. frequent posttreatment testing and long-term
follow-up to monitor the effects of treatment
Infections on hearing (Al-Khatib et al., 2010; Bergeron et
al., 2005; Berlin et al., 2005).
Infections during pregnancy, including toxo-
plasmosis, herpes virus, syphilis, rubella, and
Middle Ear Disease
cytomegalovirus (CMV), may cause severe to
profound SNHL. Among these, CMV is the Otitis media with effusion (OME) is the term used
most frequently occurring. It is estimated that to describe a middle ear infection associated with
congenital CMV is responsible for 15%–20% of fluid accumulation. It may be treated by antibi-
cases of moderate to profound bilateral SNHL otics and pressure equalization (PE) tubes (see
and is associated with 22%–27% of cases of Figure 10.7) or left to resolve on its own.
profound deafness in children (Grosse, Ross, &
Dollard, 2008).
Infections during infancy and childhood
can also lead to SNHL. Bacterial meningi-
tis poses a significant risk for childhood-onset
bilateral or unilateral hearing loss from dam-
age to the cochlea, including a risk of profound
deafness. Incidence rates reported worldwide
vary from 5% to as high as 50%, with Strep-
tococcus pneumoniae associated with the largest
percentages (Peltola et al., 2010). It is impor-
tant to recognize severe bilateral SNHL early,
as there is only a small window of opportunity
to provide a cochlear implant for some losses,
such as those resulting from meningitis.
Ototoxic Medications
Specific antibiotics used to treat severe bacterial
infections in childhood, particularly aminogly- Figure 10.7. The procedure of myringotomy and pressure
cosides (i.e., kanamycin, gentamicin, vancomy- equalization tube placement involves the surgical incision of
the tympanic membrane. The effusion is withdrawn, and a
cin, and tobramycin), may be ototoxic (toxic to plastic tube is then inserted through the opening to permit
the hearing mechanism) and cause irreversible ongoing drainage of fluid and equilibration of air pressure.
Episodic OME, which is acute but not per- with OME to provide an enriched language and
sistent, occurs most commonly in very young literacy environment (Roberts et al., 2004).
children and tends to cause minimal to mild
CHL. Such losses often go undiagnosed, are Trauma
transient, and do not affect communicative A blow to the skull (traumatic brain injury
development and school achievement. [TBI]) can cause a longitudinal or transverse
Persistent OME, defined as more than 6 skull fracture. In children, this most commonly
episodes within a 12-month period, has been results from a vehicular accident, but can also
shown to increase the risk of CHL, most com- be caused by physical abuse and sports injury
monly mild CHL, in young children (Roberts (Perheentupa et al., 2010; see also Chapter 26).
et al., 2004). Skull base fractures may lead to 1) a sudden uni-
Researchers have investigated the link lateral or bilateral SNHL, as a result of dam-
between language and academic skill develop- age to the cochlea; or 2) permanent CHL from
ment in typically developing young children trauma to the ossicles of the middle ear (Yetiser,
diagnosed with persistent OME. Retrospective Hidir, & Gonul, 2008).
studies have found a relationship between a his-
tory of persistent OME during early childhood Noise Exposure
and delays in literacy and language skill devel-
Sudden, explosively loud noises such as firecrack-
opment (Nittrouser & Burton, 2005; Shapiro et
ers, fireworks, and firearms may cause SNHL,
al., 2008; Winskel, 2006). However, studies per-
as can repeated exposure to very loud sounds
formed prospectively have not identified a sig-
over time (Fligor, 2009). Examples of the latter
nificant relationship between a history of OME
include using MP3 players (e.g., iPod) at high-
or CHL and children’s later academic skills in
intensity levels, playing in school bands, and
reading or word recognition (Roberts, Rosen-
attending live rock music concerts and motor
feld, & Zeisel, 2004); thus, the topic remains
sporting events (e.g., NASCAR; Fligor, 2009).
controversial. Limitations in study design,
The ubiquitous use of MP3 players among
small sample sizes, and measurement factors
teens has generated concerns regarding risks
(e.g., home environment contributions, degree
of gradual but permanent hearing loss due to
of hearing loss) warn against overgeneralizing
prolonged listening periods at high-intensity
the results. Furthermore, most study samples
levels (Keith, Michaud, & Chiu, 2008; Torre,
have included otherwise healthy children, but
2008). Exposure to levels of 85 dBA of loud-
impacts of persistent OME with CHL for chil-
ness for 8 hours or more per day has been shown
dren with developmental delays, from special
to increase the risk of permanent hearing loss.
populations (e.g., Down syndrome), or with
Maximum loudness levels in MP3 players have
preexisting SNHL and/or speech and language
been measured at 85–107 dBA (Keith et al.,
delays, have not been thoroughly investigated
2008). Notably, differences in digital audio play-
(Roberts, Rosenfeld, & Zeisel, 2004).
ers, earphone sensitivity, and the physical fit of
Collectively, experts support the view that
earphones (e.g., earbuds, headphones) account
while most children who experience persis-
for variability in intensity output. Environmen-
tent OME during the first years of life mani-
tal background noise also increases the risk of
fest no or minor speech, language, and literacy
reaching hazardous listening levels (Keith et al.,
delays, a minority will exhibit persistent deficits
2008; Torre, 2008). College students were sur-
throughout primary school grades. Therefore,
veyed regarding their preferred listening levels
each child’s individuality should be considered
with their personal devices, and in-ear loudness
when weighing management options for OME.
measurements revealed intensity outputs that
The following reasonable best practices are
ranged from 72–98 dB sound pressure levels
recommended: 1) evaluate a child’s hearing
(SPL; Torre, 2008). Education and increased
after 3 months of bilateral OME or when a
public awareness is warranted that long-term use
family member or caregiver expresses concern
of personal listening devices with earphones may
about the child’s hearing; 2) screen for OME
lead to permanent hearing loss.
and hearing loss on a regular basis in special
populations of children (including those with
Syndromes Associated
intellectual disability, cleft palate, and other
conditions that place children at risk for OME); with Intellectual Disability
3) screen a child’s language when hearing loss is Children with intellectual disability are at
accompanied by concern about language devel- increased risk for hearing loss, especially when
opment; and 4) encourage families of children a genetic condition is the cause of the disability
(see Chapter 17). Children with Down syndrome minimal or mild to profound SNHL and com-
are particularly prone to developing CHL, with pared to typically hearing age-mate controls (Vohr
incidence rates as high as 78% reported (Shott, et al., 2008; Vohr et al., 2010). Those infants and
2006). However, with aggressive medical and sur- toddlers with very early enrollment into interven-
gical interventions for persistent middle ear effu- tion services were shown to have beneficial effects
sions, incidence rates of CHL have decreased. on their early language development compared to
Normal hearing is achieved for approximately later enrollees.
93% of young children who are treated with Nevertheless, children with moderate to
pressure equalization tubes for persistent middle profound hearing loss exhibited delayed recep-
ear effusions (Shott, 2006). tive and expressive language skills in oral and
Several reports of the results of hearing signed English communication modes, com-
screenings conducted on adolescent and adult pared to peers with either minimal or mild
participants in the Special Olympics suggest hearing loss or those with typical hearing sen-
that many individuals with intellectual disability sitivity. These outcomes highlight that despite
experience significant undetected hearing loss best practices with early detection and manage-
(Herer, 2012; Neumann et al., 2006). In these ment, some children with greater degrees of
studies, 17%–38% of individuals failed screen- hearing loss remain at a disadvantage in devel-
ing tests, and a significant proportion of these oping spoken language abilities.
participants were confirmed as having CHL,
SNHL, or mixed hearing loss. Rates of Hearing Loss
and Associated Risk Factors
IDENTIFICATION The prevalence rate for congenital SNHL in
OF HEARING LOSS babies from the well-infant nursery is approxi-
mately 1.2 per 1,000. This rate increases for
Early identification of children with hearing loss hospitalized infants admitted to the NICU or
in the United States is accomplished through specialty-care units to as high as 13.3 per 1,000
universal newborn hearing screening programs (Connolly, Carron, & Roark, 2005). There are
at birthing hospitals (White & Maxon, 2005; risk indicators associated with hearing loss in
JCIH, 2007). As of 2010, all states screen hear- the neonatal period (see Table 10.2). However,
ing of newborns, and 47 states have legislative only 50% of the infants with SNHL at birth
mandates to screen hearing before hospital dis- have identifiable risk-history factors (Connolly
charge (National Center for Hearing Assess- et al., 2005). Children with such factors may
ment & Management, 2010). not demonstrate congenital hearing loss but
The importance of identifying hearing may acquire hearing loss of a progressive or
loss soon after birth is analogous to the need delayed-onset nature later in childhood. There-
for early detection of vision loss. The brain fore, it is essential to provide such children with
pathways for both of these senses are imma- ongoing surveillance. In order to determine
ture at birth and develop normally only when the frequency of auditory surveillance, a medi-
stimulated. Evidence indicates that identifying cal work-up of the infant is performed. This
hearing loss early and implementing family- involves a family history of hearing loss, medi-
centered intervention services (including hear- cal history of child and family members, and an
ing aids) prior to 6 months of age, regardless of examination for findings suggestive of a genetic
the degree of hearing loss, can result in signifi- syndrome associated with hearing loss.
cantly better vocabulary, speech intelligibility, There are usually attributable risk indica-
general language abilities, as well as improved tors in children who acquire hearing loss; how-
parental bonding and social-emotional devel- ever, hearing loss in adolescents often occurs
opment for deaf and hard-of-hearing children for reasons that are not well understood (Shar-
1–5 years of age (Moeller, 2000; Yoshinaga- gorodsky et al., 2010). According to results
Itano, 2003). from the 2005–2006 National Health and
Recent literature confirms the critical func- Nutrition Examination Survey (NHANES),
tion of early intervention on communicative one in five adolescents age 12–19 years in the
development for deaf and hard-of-hearing infants United States exhibited some degree of hearing
and toddlers (Vohr et al., 2010; Vohr et al., 2008). loss. Compared with data from the 1988–1994
Enrollment into early intervention by 3 months NHANES III, this represents a 33% increase
of age, compared to enrollment at over 3 months in the prevalence of hearing loss (Shargorod-
of age, was investigated in young children with sky et al., 2010). High-frequency hearing loss
was more common than low-frequency hearing body toward a familiar sound source from his
loss, and females had significantly lower odds of or her right or left.
having hearing loss compared to males. Partici- Up to 5 months of age, the speech sounds
pants reporting income ratios below the poverty an infant makes are not influenced by the speech
threshold had significantly increased odds of sounds heard. The early vocalizations of infants
having a hearing loss compared to participants from different countries sound alike. After 5
above the poverty threshold. Finally, unilateral months of age, however, the infant’s babbling
hearing loss was reported most frequently. Sur- starts to imitate the parents’ speech patterns
prisingly, the 2005–2006 NHANES did not (i.e., native language; Werker & Yeung, 2005).
find a significant association between hearing Thus, the babbling of an infant with Spanish-
loss and adolescents self-reporting noise expo- speaking parents becomes different from that of
sure. The overall worsening of acquired hear- an infant with English-speaking parents.
ing loss in adolescents poses a considerable For all children with normal hearing, lis-
concern, given that any degree of hearing loss tening to spoken language during early life is a
can compromise social development, commu- critical prerequisite for the typical development
nication health, and academic achievement. of speech. The same can be true for children
These data point to the importance of early with hearing loss who, because of detection
identification of and education about hearing by newborn hearing screening programs, can
loss so that hearing loss prevention strategies access spoken language in early life through
are taught and practiced. early intervention services such as hearing aid
amplification.
Factors Indicating
Possible Hearing Loss Signs of Hearing Loss in the
Deaf or Hard of Hearing Child
Parental Concern
An early sign of severe hearing loss is when the
Parental concern has been shown to be a sensitive sleeping baby does not awaken to loud noises.
indicator of childhood hearing loss, and provid- Even a deaf infant, however, may react to vibra-
ers need to listen to parents’ concerns. Since not tions, leading family members to assume the
all children with hearing loss have a risk factor infant has actually heard the sound. Between 3
and may pass the screen for newborns, there are and 4 months of age, infants who are deaf coo
new recommendations for ongoing surveillance and laugh normally. However, their consonant-
of language milestones and hearing skills. The vowel babbling, which normally occurs around
JCIH (2007) recommendation is that all infants age 6 months, is often reduced, delayed, or
should undergo an objective standardized screen absent. Babbling is a sign of prelinguistic and
of global development with a validated tool at 9, early linguistic development. Children with
18, and 24–30 months of age. In addition, if a normal hearing perceive their own babbling
child does not pass a medical home global devel- from auditory feedback (i.e., self-monitoring
opmental screen or if there is concern regarding stimulation through the hearing sense), whereas
hearing or language, the child should be referred infants who are deaf do not perceive this audi-
for speech-language evaluation and audiology tory feedback, which is why their babbling is
assessment. affected (Northern & Downs, 2002).
In children with unaffected hearing, bab-
Hearing Milestones bling becomes more varied and eventually is
for Detecting Hearing Loss attached to meanings (e.g., the babble “dadada-
The newborn clearly prefers to listen to speech dada” becomes the word Dada). The vocaliza-
as opposed to other environmental sounds, tions of deaf infants show less variety in speech
just as the infant prefers to fixate visually on articulation and intonation and are less likely
a face rather than an object. By 2 months of to become meaningful and recognizable words,
age, the typically developing infant can distin- unless they have benefited from early identifica-
guish vowel from consonant sounds, and by tion and intervention.
4 months, prefers speech patterns that have Between the ages of 5–17 months, infants
varied rhythm and stress (Werker & Yeung, with normal hearing significantly increase their
2005). The infant prefers listening to pro- repertoire of consonant sounds. During the
longed discourse rather than to repetitive baby same period, their peers who are deaf and hard
talk. During this early period, an infant with of hearing, without intervention, demonstrate a
typical hearing can be seen orienting his or her reduction in consonant variety resulting in poor
speech intelligibility. It is this failure to develop loss, as do their interactions with the world of
comprehensible speech that leads parents to sound. These children often show poor benefit
suspect a hearing loss, if one was not already from or dissatisfaction with hearing aid ampli-
identified by screening during well-baby visits. fication because of the normal outer hair cell
Receptive language also lags in children function (Berlin et al., 2010; Vlastarakos et al.,
with hearing loss. By 4 months of age, the child 2008; Zeng et al., 2005).
with normal hearing generally orients his or her
head or body toward a parent’s voice. The child Newborn
with a hearing loss may or may not exhibit such Screening for Hearing Loss
sound localization behavior, depending on the
severity and configuration of the loss. By 8–9 Well Baby Nursery
months, a direct head turn (right or left to locate All babies in the well baby nursery are screened
the parent’s voice or a familiar sound) can be for hearing status before hospital discharge, usu-
observed in a baby with typical hearing but not ally within the first 24 hours of life. The objective,
in one with a severe to profound hearing loss. noninvasive physiological procedures of tran-
At around 12 months of age, babies respond to sient-evoked otoacoustic emissions (TEOAE)
verbal instructions accompanied by gestures, and distortion product (DPOAE) and/or elec-
such as “Wave bye-bye.” At this age, the child trophysiological automated ABR technologies
who is deaf may seem to understand the mes- are used. The hearing screening protocols at
sage because he or she can figure out the com- birthing hospitals can vary with respect to the
mand by following gestures and understanding use of the OAE application and automated ABR.
the context. Similarly, a deaf toddler may get his Many hospitals use OAE as a first screen fol-
or her jacket when others do, whether or not he lowed by automated ABR for infants failing the
or she understood “Get your coat.” By about 16 OAE screen. Infants who do not pass this dis-
months of age, the child with normal hearing charge screening are followed for postdischarge
responds to more complex instructions by words rescreens within several weeks. For those who
alone. The child with an undiagnosed hearing do not pass the rescreen, a referral for an audio-
loss, however, may have great difficulty in doing logical diagnostic evaluation is made immedi-
this and may stop following instructions unless ately. The hearing screening protocol can be
they can be inferred from context or accompa- very efficient, resulting in a 1%–6% referral rate
nied by gestures. This failure to respond to verbal to follow up with postdischarge rescreening or
instructions may lead parents to suspect a hear- diagnostic audiological testing (Lin et al., 2005;
ing loss, but it also can be misperceived as oppo- Shulman et al., 2010). However, a longstanding
sitional behavior. Children with normal hearing limitation of effectiveness within EHDI systems
and with global developmental delays are also is that parents of infants who require audiologi-
delayed in achieving these language milestones. cal assessment due to abnormal hearing screen-
These children, however, are similarly delayed in ing results do not consistently return with their
speech, motor, and cognitive skills. The young infants for follow-up testing (Mason et al., 2008;
child who is deaf or hard of hearing but other- Shulman et al., 2010). Data from state-reported
wise typically developing has slow development hearing screening indicate “lost to follow-up”
only in speech and language skills. rates exceeding 40% (CDC, 2011). Health care
providers and educators of all specialties are
Methods of encouraged to stress to families with infants or
Screening for Hearing Loss young children who did not pass their newborn
OAE technology and another hearing screen- hearing screening the importance of obtaining a
ing instrument, called screening or ABR, are hearing assessment regardless of whether a hear-
effective screening tools to detect both SNHL ing, speech, or language concern exists.
and permanent CHL. Children with neural
loss can have a hearing disorder identified as Neonatal Intensive Care Unit
auditory neuropathy/dyssynchrony (auditory The JCIH (2007) recommended separate new-
neuropathy spectrum disorder, or ANSD) born hearing screen protocols for NICU infants
and may have normal OAE results but poor hospitalized for greater than 5 days. Since NICU
auditory nerve function. Therefore, early infants are considered at increased risk for neu-
detection requires the use of automated ABR ral hearing disorders, it was recommended that
technology. Children with ANSD have behav- all NICU infants hospitalized for greater than 5
ioral hearing test results that reflect substantial days be screened with automated ABR.
Hearing Tests required during the procedure. In infants, the

ABR waveform is composed of three distinct
Electrophysiological Methods waves, numbered I, III, and V (Figure 10.4),
In addition to the screening versions being used that represent successively higher levels of the
in EHDI programs, diagnostic OAE and ABR ascending auditory pathway. An absence of
measures are part of the battery of audiological waveform at a given intensity suggests a hearing
tests for infants, toddlers, and young children loss, whereas the complete absence of a particu-
(Buz Harlor & Bower, 2009). They are also very lar wave suggests an abnormality at a particular
useful in assessing children with developmental location of the brain auditory pathway.
disabilities who are unable to respond to con-
Behavioral Hearing Tests
ventional behavioral audiometric testing (Ber-
lin et al., 2005). The outcome of behavioral tests is regarded
OAE testing is ideal for use in very young as the “gold standard” for judging a child’s
children or those with challenging behavior auditory status and function in everyday life.
because results are achieved rapidly and do not Behavioral hearing testing is performed to
require the child’s cooperation other than sit- 1) determine whether a hearing loss exists, 2)
ting quietly. A small probe assembly is placed at differentiate a CHL from a SNHL, 3) deter-
the edge of the outer ear canal. The probe con- mine each ear’s degree of loss across a range of
tains an earphone and a microphone. The OAE test frequencies, and 4) estimate the clarity with
earphone introduces clicks (TEOAE) or tones which speech can be understood. The method-
of various frequencies (DPOAE) into the ear ology and specific techniques must be modified
canal that are transmitted to the cochlea. If the for the developmental and cognitive age of the
cochlea’s outer hair cells respond, they trans- child (Madell, 2008).
mit low-level sounds called emissions back to
the outer ear canal. The OAE probe assembly’s Testing Infants up to
microphone receives the emissions from the 6 Months Cognitive Age
outer hair cells and transmits them to computer Both behavioral observation audiometry (BOA)
software for analyses. Each ear is tested individ- and electrophysiological test methods are used
ually. If there is damage to cochlear structures to detect hearing loss in infants up to 6 months
sufficient to cause a hearing loss of 30 dB or of age. BOA relies on subjective observation of
greater, abnormal OAE responses are obtained. a baby’s reactions to a variety of sound stimuli
OAE responses also may not be recorded due to in a structured sound environment. Observ-
a middle-ear effusion or malformation. Because able responses, such as a change in sucking in
OAE testing objectively measures the responses response to stimuli, usually occur in response
of the cochlear outer hair cells, the outcome to familiar sounds, such as speech signals and
data can help differentiate sensory hearing loss a mother’s voice (Madell, 2008). Starting at 4
from neural components of SNHL. OAEs can months of age, infants begin to locate familiar
also be used to monitor the status of cochlear sounds by turning their head toward the sound
function that could be affected by use of oto- source, and this is the response sought when
toxic drugs or by exposure to loud sounds, both using BOA. This head-turning localization
of which can lead to progressive hearing loss behavior becomes quicker and more precise
(Lonsbury-Martin, 2005). starting at 6 months of age.
Diagnostic ABR testing evaluates both
cochlear function and the auditory neural path- Testing Children with Cognitive
way. The ABR method is a highly sensitive test Ages from 5 Months to 36 Months
for both hearing loss and neural disruption of As a child’s responses to auditory stimuli mature,
the central auditory pathway (Hall, 2006). ABR visual reinforcement audiometry (VRA) can be
procedures involve affixing electroencephalo- used to assess hearing sensitivity. VRA pairs
gram sensors at various sites on a child’s head sound stimuli produced from a sound source,
and presenting sound stimuli through ear- such as a wall-mounted room speaker (i.e.,
phones. Click and tone burst stimuli, usually in soundfield speaker) with visual reinforcement
the 500–4,000 Hz frequency range, are used to stimuli (i.e., a lighted and animated toy) and
assess threshold hearing and neural activity in the child is trained using operant condition-
the brainstem pathway. ABR responses are ana- ing and control trials to localize with head-
lyzed using computer software. Either a natu- turn responses toward the sound source. For
ral sleeping state or one induced by sedation is most babies and toddlers, a well-defined VRA
test protocol can determine reliable hearing be consistent with a child’s developmental age
responses (although not threshold levels) for (i.e., vocabulary age—e.g., use of pictures of test
tonal and speech stimuli for at least one ear vocabulary; Mendel, 2008).
and often both ears. These behavioral data can
validate the electrophysiological results of OAE Assessing Middle-Ear Function
and ABR testing obtained with infants at earlier Measurements of the physiological function of
ages (Madell, 2008; Widen et al., 2005). a child’s middle-ear system contribute signifi-
cantly to the differential diagnosis of CHL and
Testing Children with Cognitive Ages SNHL, and they can help monitor the course
from 30 Months to 5 Years and Older of middle-ear disease and treatment. To evalu-
Conditioned play audiometry (CPA) can be used ate objectively the function of the middle-ear
for testing children generally between the ages system, immittance measures (which assess the
of 2½ and 5 years (Madell, 2008). The child usu- resistance and compliance of the system) are
ally wears earphones and is conditioned to per- used. Any significant change to these character-
form a play task whenever a pure tone or speech istics of the middle-ear system can affect trans-
stimulus is heard. For example, the child may mission of sound energy to the cochlea (Lilly,
stack blocks or put rings on a peg in response 2005). Immittance tests include tympanometry
to hearing an auditory stimulus. Beginning at 4 and acoustic reflex measures. Tympanometry
years cognitive age for some children, conven- examines middle-ear pressure, tympanic mem-
tional audiometric techniques are employed, brane compliance, mobility of the ossicles, and
with responses consisting of a hand raise in eustachian tube function. Acoustic reflex mea-
response to the auditory stimulus. If condition- surements assess the contraction of the muscle
ing of the child is successful, audiometric results tendon attached to the head of the stapes when
are as complete as those obtained from an older a very loud sound enters the cochlea.
child or adult (Kemaloglu et al., 2005).
When a child’s hearing is assessed via the
soundfield room speaker or earphones (i.e., air
conduction; Figure 10.8A) and a hearing loss
is identified, it is not possible to determine
whether the loss is conductive or sensorineu-
ral. Therefore, tonal sounds are also presented
through a bone conduction vibrator placed
on the mastoid bone behind the ear (Figure
10.8B). Air conduction tests the contribu-
tion of the external, middle, and inner ear,
whereas bone conduction bypasses the exter-
nal and middle ear and stimulates the inner ear
directly. As a result, the child demonstrating
a hearing loss by air conduction but normal
hearing by bone conduction can be inferred to
have a conductive hearing loss. Likewise, if the
child evidences hearing loss of equal magni-
tude by air and bone conduction, the hearing
loss is shown to be sensorineural (Figure 10.9;
Bess & Humes, 2008).
Speech audiometry is another important
method for assessing the auditory function of
children 2½ years and older. It complements
CPA by determining threshold acuity for
speech stimuli, which can validate CPA’s tonal
threshold results. Speech audiometry methods
can also evaluate how well a child understands
information at levels above threshold (e.g., com- Figure 10.8. Approaches to testing air and mastoid bone
fortable conversational levels), which can pro- conduction of sound. A) In air conduction, the sound comes
vide insight into the effects of a hearing loss on through the ear canal and middle ear to reach the inner ear.
B) In bone conduction, the sound bypasses the external ear
everyday listening/understanding. Test material and for the most part the middle ear, and then goes directly
and methods used in speech audiometry must to the inner ear.
Figure 10.9. Audiograms showing normal hearing and various degrees of hearing loss. Note that in all
cases shown, both ears are equally affected. In a conductive hearing loss, bone conduction is found to be
better than air conduction because it bypasses the external and the middle ear where the problem exists. In
sensorineural hearing loss, bone and air conduction produce similar results because the problem is within the
inner ear and/or auditory nerve. (Key: ANSI, American National Standards Institute; Hz, hertz.) (Courtesy of
Brad Friedrich, Ph.D.)
In tympanometry, an ear probe that pres- enters adolescence, and manifest as difficulties
ents a steady-state tone is placed in the ear canal. with the following:
Varying amounts of air pressure (positive, nega- • Listening and understanding in noisy con-
tive, and atmospheric) are also sent through the ditions
probe to the eardrum. A microphone in the probe
• Paying attention to or remembering spoken
measures intensity differences of the tone in the
information
ear canal as the air pressure changes. The air pres-
sure–intensity relationships in tympanometry are • Following multistep directions
plotted graphically and can show normal func- • Carrying out instructions in a reasonable
tion in the middle-ear system or various prob- time frame
lems within it (Figure 10.10). The presence of the • Understanding language
acoustic stapedial tendon reflex in a child is strong
evidence of a healthy middle-ear system, as well as • Developing vocabulary, reading (including
normal functioning of the inner ear hair cells and comprehension), spelling and vocabulary
eighth nerve (Berlin et al., 2005). skills
• Low overall academic performance
Assessing Central Auditory Function Children exhibiting such difficulties are
A child’s brain receives, analyzes, identifies, often described as having an auditory processing
stores, recalls, and relates auditory information disorder (APD), but they generally have normal
in order to make sense of the stimuli/events of threshold hearing and typical intelligence. APD,
the surrounding auditory world. This dynamic however, is also ascribed to coexist with other
process is regarded as among the highest cog- conditions such as dyslexia, attention-deficit/
nitive functions of the human brain. The out- hyperactivity disorder, autism spectrum disor-
come of this process is readily seen in the rapid ders, developmental delay, and specific language
evolution of a child’s complex speech-language impairment (Witton, 2010).
system in early childhood. Testing for a suspected APD involves pre-
For reasons that are currently unclear, senting special listening tasks that tax the audi-
some children have auditory processing prob- tory system’s ability to understand or integrate
lems that are attributed to inadequate function- auditory information. Most of these behavioral
ing of sites within the brain’s central auditory test procedures have normative data only for
neurological system. The problems most often children 7 years of age and older because of
emerge as a child approaches school age or the sophisticated listening–responding tasks.
Figure 10.10. Tympanogram. The zero point represents atmospheric air pressure. The positive and negative numbers
indicate that positive or negative pressures (relative to atmospheric pressure) have been applied to the eardrum. The com-
pliance values are determined by the intensity of the probe tone at the various pressures and are influenced by the presence
or absence of middle-ear pathology. A) A normal tent-shaped tympanogram. B) During otitis media (middle-ear infection),
a flattened function may be obtained. (Key: cm3, cubic centimeters.) (Courtesy of Brad Friedrich, Ph.D.)
Electrophysiologic procedures may also be used now available to assist parents in selecting an
by audiologists to determine possible clues to appropriate intervention site and a language
APD (Alonso & Schochat, 2009). acquisition strategy.
Methods of Intervention
INTERVENTION
FOR HEARING LOSS Language-Learning Options
Parents need to make informed decisions for Various language-learning methods are avail-
their child about communication methods, hear- able to children with severe or profound hear-
ing aid use, cochlear implantation, and educa- ing loss. Auditory oral educational methods
tion. They need to be presented with substantial emphasize the teaching of listening skills,
information from professionals with expertise in speech reading, speech articulation, and spoken
these important areas, such as physicians, pedi- language. Examples of oral approaches include
atric audiologists, educators of the deaf and hard Cued Speech, which utilizes a limited num-
of hearing, and speech-language pathologists. ber of hand shapes next to the face to express
Other individuals and groups with knowledge phonetic sounds with spoken language, and the
about hearing loss also can be helpful to parents, auditory-verbal method, which emphasizes the
including organizations concerned with hearing training of residual hearing without reliance on
loss, other parents of children with hearing loss, visual stimuli (Lim & Simser, 2005).
and local school systems. Different language-learning options com-
When a child has a hearing loss ranging prise auditory approaches, visual methods, or a
from mild to severe, the language and speech combination of both, including the following as
choices usually focus on a variety of aural/oral noted by Flexer (2008):
intervention methodologies. When a child has • Auditory-oral
a severe or profound loss, the child’s family may • Auditory-verbal
want to learn about the sign language methods
of learning language, as well as aural/oral meth- • Cued Speech
ods. Parents need immediate access to complete • Sign-supported speech and language
information about the variety of approaches to • Simultaneous communication
communication development and education so
• American Sign Language (ASL)
they can make informed choices (Buz Harlor &
Bower, 2009). • Total communication
• Bilingual-bicultural approach
Early Intervention English-oriented sign systems are intended
Once a permanent hearing loss has been diag- to facilitate the learning of English by com-
nosed, evidence-based management begins with bining ASL vocabulary, coined signs, and fin-
the child and family’s referral to and enrollment ger spelling (letter-for-letter spelling of whole
in a transdisciplinary, family-centered, com- words) in an attempt to represent English
prehensive early intervention program (Mellon sentence structure. Proponents of total com-
et al., 2009). The Individuals with Disabilities munication incorporate aural/oral and manual
Education Improvement Act (IDEA; PL 108– communication modes, such as listening skills,
446) ensures services to children with disabili- speech reading, English-oriented signing or
ties, including hearing loss. Infants and toddlers ASL, gesture/mime, and anything that facili-
aged birth to 2 years who are deaf and hard of tates the child’s comprehension of what is spo-
hearing receive services under IDEA Part C ken and/or signed. Educators of the deaf who
(see Chapter 31). use the bilingual-bicultural approach propose
The goals for successful intervention that children must first be immersed in ASL so
include family adaptation to and acceptance of that they have full access to and can acquire the
the child’s special communication needs and meaningful use of a language before they can
the provision of a linguistically accessible envi- attain a less available (spoken) language. ASL
ronment at home and school that enhances the has its own unique grammatical patterns and is
child’s self-esteem. Optimally, programs should structurally different from a spoken language,
be flexible in their orientation and include fam- as it is visually received and spatially expressed.
ily supports and integration with community Furthermore, ASL is not English; it is a differ-
services. Parent education materials, support ent language within a distinct culture (Pray &
groups, and national information centers are Jordan, 2010).
Amplification for amplification. Profiles of the child’s existing

Amplification (i.e., hearing aids, assistive listen- speech and language skills, cognitive abilities,
ing devices) is an important part of the services commonly encountered listening environments,
required by the child with hearing loss (Seewald and school performance are all important factors
et al., 2005). Hearing aids can be used by chil- in determining the appropriateness of hearing
dren of any age, including young infants. They aid use and its specific fitting.
should be fitted as soon as a persistent or per- Hearing aids have three components: 1) a
manent hearing loss has been identified, even microphone that changes the acoustic signal
if all of the information about the hearing loss into electrical energy, 2) digital amplifiers that
is not yet available. Assistive listening devices, increase the intensity of the electrical signal,
such as FM systems, are often used in conjunc- and 3) a receiver that converts the electrical
tion with hearing aids in difficult listening envi- signal back to an amplified acoustical signal.
ronments, such as the classroom, to improve The amplified sound is channeled into the ear
the signal-to-noise ratio of the speech message canal through an earmold. A battery powers the
over impeding ambient room noise (Smaldino hearing aid, and the loudness adjustments are
& Flexer, 2008). automated by digital sound processing, or, in
Audiologists are responsible for the older children, can be manually adjusted by the
appropriate fitting of amplification devices for user. Children’s hearing aids also should permit
children. The selection and utilization of ampli- direct audio input to allow coupling to an FM
fication for children, particularly preverbal chil- system and should have tamper-resistant bat-
dren, differs significantly from the procedures tery compartments to prevent young children
used in adult fittings (Seewald et al., 2005). First, from swallowing the batteries.
selection of child-appropriate hearing aids is an Hearing aid categories for young children
ongoing process that extends far beyond iden- and older youth are behind-the-ear (BTE) aids,
tifying hearing loss and the initial fitting of an in-the-ear (ITE) aids, and bone conduction
amplification device. Second, the settings of aids. BTE hearing aids (Figure 10.11) are safer
hearing aids are subject to change as new infor- and offer greater flexibility for accommodating
mation regarding the hearing loss and responses the needs of pediatric hearing loss compared
to amplification are obtained through frequent to custom ITE hearing aids. This flexibility is
audiological evaluations of the child. Finally, especially important if the child’s audiometric
the degree of hearing loss is not the only con- information is incomplete or if the possibility of
sideration in determining a child’s candidacy progressive hearing loss exists. Also, as the child’s
Figure 10.11. The components of a behind-the-ear (BTE) hearing aid. The aid consists of a microphone,
a battery power supply, an amplifier, and a receiver that directs the amplified sound through the earmold
into the ear canal.
ear canal grows, earmolds can be remade for the expectations for amplification and recognize
BTE aid without having to replace the entire aid the importance of speech and language educa-
as is necessary with the ITE instruments. tion and ways to modify the child’s listening
Bone conduction hearing aids or bone- environment.
anchored hearing aids (e.g., Baha), surgically
implanted or worn externally via a soft head- Cochlear Implantation
band, are most helpful for children who have for Severe or Profound
bilateral malformations of the external and/or
Sensorineural Hearing Loss
middle ear accompanied by conductive hearing
loss (e.g, atresia) or who have chronic middle- A cochlear implant (CI) is a prosthetic device
ear drainage into the external ear canal. The lat- that electrically stimulates the cochlea via an
ter condition would prevent use of an earmold electrode array surgically implanted in the
with a BTE instrument or an ITE hearing aid inner ear. The reasoning behind the use of a
(Christensen et al., 2010). CI is that many auditory nerve fibers and the
Binaural hearing aids (hearing aids in both central auditory neurological pathway remain
ears) are preferred with children, unless there functional even when the sensory hair cells in
are contraindications to fitting both ears, such the cochlea are damaged severely or reduced in
as structural abnormalities or the absence of number.
any usable hearing in one ear. Although hearing The device provides auditory information
aids are valuable tools, it is important to under- via five components: 1) a microphone, 2) a sig-
stand that they make speech sounds louder but nal processor that encodes incoming sounds, 3) a
not always clearer. Also, they do not selectively transmitter, 4) a receiver, and 5) the implanted
amplify speech versus other sounds. Therefore, electrodes (Figure 10.12). The sound is received
when SNHL is present, because of ambient by the microphone and sent to the signal pro-
noise, the child may have difficulty understand- cessor, which is a computer that analyzes and
ing what is said even when the hearing aids digitizes the sound signal into individually pro-
provide speech sounds that are comfortably grammed electrical information. The electrical
loud. The child and family must have realistic information is sent to the transmitter, located
Receiver
Transmitter
Electrode array
Sound
processor
Figure 10.12. Cochlear implant. The device has five components: a microphone to capture sound, a signal processor
that electronically encodes the incoming sounds, a transmitter, a receiver, and the electrodes that have been surgically
threaded into the cochlea. The electrodes stimulate nerve fibers along the cochlea, and the child perceives sound.
on the skin surface behind the ear. The trans- The families of children using CIs for 4 or
mitter sends the coded signals to an implanted more years express a high degree of satisfaction
receiver just under the skin. The receiver deliv- with the results. Parents have a favorable view
ers the coded electrical signals to the array of about the CI’s effects on family life and their
electrodes that was surgically inserted into the child’s well-being. Their satisfaction with their
cochlea. These electrodes stimulate auditory child’s implant, however, is most significantly
nerve fibers at different locations along the related to the child’s speech-language achieve-
cochlea, and sound sensations progress through ments (Sach & Whynes, 2005). Children with
the central auditory system to the brain. CIs indicate that they are successfully managing
The primary goal of pediatric cochlear the demands of social and educational activities,
implantation is to provide critical speech infor- regardless of post-implant speech-language
mation to the auditory system and brain in capabilities (Wheeler, Archbold, Gregory, &
children who are severely to profoundly deaf, Skipp, 2007). There is some evidence, too, that
in order to maximize their opportunities for the deaf community is becoming more accept-
developing spoken language (Geers, 2006). ing of cochlear implantation, regarding it as
The scientific literature is replete with reports one of a continuum of intervention strategies
of the positive benefits of multichannel CIs on for parents to consider (National Association of
language, speech, and literacy for children; and the Deaf, 2000). Deaf parents of some children
early implantation (less than 2 years of age) is with CIs have great interest in their children’s
a chief variable leading to successful outcomes spoken language development but support the
(Dettman et al., 2007; Holt & Svirsky, 2008; use of signing before and after implantation
Nicholas & Geers, 2006; Yoshinaga-Itano, (Christiansen & Leigh, 2004).
Baca, & Sedey, 2010). Additional factors cen-
tral to children achieving spoken language lev- Education and Communication
els comparable to hearing age-mates include
advances in CI technology and clinical practice, Education and communication are inextricably
enhanced speech coding strategies, extent of linked because educational curricula are language
preimplantation residual hearing, and effective based. Without adequate language skills, a child
habilitation/rehabilitation focused on speech who is deaf or hard of hearing is at a functional
and auditory skill development (Geers, 2006). disadvantage in all academic areas. The goal of
Cochlear implantation is considered for professionals working with the deaf or hard-of-
children in the context of a multidisciplinary hearing child should be the facilitation of opti-
team approach that includes an audiologist, mal communication, utilizing whatever tools
speech-language pathologist, an otolaryngolo- are most helpful based on the child’s cognitive,
gist, the family, and often a psychologist and an attentional, and sensory profile and other related
educator of the deaf and hard of hearing (Alex- variables, including family preferences (Madell
iades et al., 2008). Following surgical implan- & Flexer, 2008). The two factors most predictive
tation, the habilitative process begins with the of the educational achievement of people who
initial activation of the CI and long-term map- are deaf are language development and educa-
ping (i.e., programming) of a child’s CI by an tional opportunities (Antia et al., 2009).
audiologist. This is critical to the child’s success- To improve communication for a child
ful use of the acoustic features of speech and lan- with hearing loss, education and intervention
guage. Threshold hearing levels, comfort levels, should focus on developing listening skills and
and the dynamic hearing range change with the all aspects of language, including syntax and
CI use throughout life, and this requires remap- grammar, increasing speech or sign language
ping (Alexiades et al., 2008). production, and expanding vocabulary. The
Current trends in CI surgical methods educational achievement of students who are
and device hardware involve simultaneous and deaf or hard of hearing is weakest in the areas of
sequential bilateral cochlear implantation in reading and writing (Antia et al., 2009). Good
children (Peters, Wyss, & Manrique, 2010; practice specifies that literacy experiences be
Sparreboom, Snik, & Mylanus, 2010; Zeitler an intrinsic component of education and inter-
et al., 2008). Bilateral CIs have the potential to vention, and that preliteracy experiences begin
improve speech perception abilities in the sec- with infants and toddlers (Flexer, 2008).
ond implanted ear and to provide access to the The roles of interventionists will vary
use of binaural mechanisms, such as improved depending on the context of the service pro-
hearing in noisy environments and enhanced vision. Some speech-language pathologists,
localization abilities. teachers of students who are deaf or hard of
hearing, and educational audiologists, for exam- School-based services for deaf and hard-
ple, work in the classroom alongside a teacher of-hearing children begin at 3 years of age and
or special educator. Some work in conjunction continue through 21 years of age, covered by
with preschool programs for children with Part B of the IDEA (Sorkin, 2008). Services for
hearing loss; still others work as independent school-age students may vary by school district
contractors either in school-linked consulta- and are listed in Table 10.5.
tions or as providers of education/therapy ses- The IDEA law requires that children with
sions in the homes of infants and toddlers. The disabilities have the right to a free and appro-
variety of available services is highly dependent priate education (FAPE) and are educated in
on the children’s ages, their degree of hearing the least restrictive environment (LRE; U.S.
loss and communication problems, the extent of Department of Education, 2006). According
their functional hearing, the local and regional to the 2006 regulations, the LRE requirements
educational philosophy, and other factors such indicate “a strong preference, not a mandate, for
as the family’s financial resources and commit- educating children with disabilities alongside
ment to learning a new communication system. their peers without disabilities” (Sorkin, 2008).
Collaborative interventions are the most sup- Educating a child with hearing loss in the LRE
portive for families (Flexer, 2008). Commu- is based on the learning needs of the child as the
nication approaches reflect speech-language child develops. One goal of early intervention is
pathology service models and often incorpo- to provide enough support that education can
rate a specific type of communication modality, occur in the LRE. Educational placements are
according to the preference of the family, clini- also based on the family’s preference, the child’s
cian, center, and school. academic and social readiness, and the program
Infants, toddlers, and preschool children options available within the school district (Sor-
with all degrees of hearing loss may have a kin, 2008).
variety of possible service delivery systems An educational placement for young
available to them, ranging from home visits school-age children with a severe or profound
by interventionists, to provision of services in degree of hearing loss may include instruction
a special preschool, to enrollment in a regular in a special day class taught by an educator of
education preschool (with education/therapy the deaf and hard of hearing, with other ser-
services brought to the child in that environ- vice providers coming into the classroom or
ment). With the advent of universal newborn taking the child or children out for individual-
hearing screening in birthing hospitals, parents ized instruction. A special day class placement
of infants with early identified hearing loss may may mix children with and without hearing loss
immediately seek assistance from their school for some academic subjects or for other school
district (Buz Harlor & Bower, 2009). activities. The children who are grouped in a
In general, school-age children with mild
and moderate to severe hearing losses will be Table 10.4. Services for children who are deaf or
enrolled in regular education classrooms in com- hard of hearing under Part C of the Individuals with
munity schools. Consultation and collaboration Disabilities Education Improvement Act of 2004
services from speech-language pathologists, (PL 108–446)
educational audiologists, teachers of the deaf • Service coordination by a knowledgeable
and hard of hearing, and other interventionists professional
are brought to the child’s classroom. On occa- • Appropriate assessment in all areas of
sion, the child may leave the general education development
classroom for individual or small group sessions • Design of an individual family service plan (see
Chapter 30)
and may spend part of a day in a special class for
• Assistance with parent–child interactions
intensive small group instruction. Auditory oral
• Modeling and demonstration of speech and
language teaching (active listening enhanced language experiences
with hearing aids, cochlear implants, and assis- • Information that is unbiased to help families
tive listening devices) is usually employed as the decide on communication modes and educa-
mode of communication in these learning envi- tional methods
ronments (Flexer, 2008). • Emotional support
Services for infant and toddler programs • Direct instruction to the child (if warranted)
under Part C of the IDEA may vary by state • Caregiver assistance with technology
(Sorkin, 2008). Table 10.4 lists the services that • Transition services to a preschool program begin-
children who are deaf or hard of hearing and ning at 2½ years of age
their families may receive under Part C. Source: Sorkin (2008).
Table 10.6. Specialized curriculum areas and

Table 10.5. Services for school-age children who
accommodations for students who are deaf or hard
are deaf or hard of hearing under Part B of the Indi-
of hearing
viduals with Disabilities Education Improvement Act
• Develop and implement individualized education Specialized curriculum areas
program (IEP) Deaf studies
• Provide hearing assessment Use of assistive technology (e.g., telecommunication
• Supply and maintain assistive listening technology devices, videophones)
• Ensure the function of hearing aids, cochlear Instruction in manual language (e.g., American Sign
implant processors, and assistive listening devices Language, Cued Speech)
• Management of classroom acoustics Speech-language therapy and speech reading
• Provide speech-language therapy Auditory training
• Provide special education services Instruction in social skills
• Provide interpreter services (e.g., American Sign Career and vocational education
Language, Cued Speech, oral transliteration)
Specialized accommodations
Source: Sorkin (2008).
Sign language interpreters
Closed captioning
special day classroom are usually taught exclu-
Note-takers
sively by a specific language method, such as
Assistive listening devices
aural/oral, a sign system, or total communi-
Visual alerts
cation, depending on the method selected by
Communication access real-time translation (CART)
their parents. As children with all degrees of system
hearing loss (mild to profound) reach middle-
school age, they are often included in general Source: Sorkin (2008).
education classes with children who possess
typical hearing and receive various types of in- and their children who are deaf or hard of
class supports to enable communication access, hearing collaborating in partnership with pro-
including interpreters, closed-captioning, and fessionals, see Hands and Voices (2011).
in-service training for teachers and class-mates
(Sorkin, 2008).
Other school options for children with
OUTCOME
severe to profound hearing loss include pri- A wide range of audiological, familial, linguis-
vate schools as well as state schools for stu- tic, social, and environmental factors can affect
dents who are deaf. Students who are deaf or speech development, English literacy, language
hard of hearing in elementary and secondary competence, psychosocial function, educational
school programs should be provided instruc- outcomes, and career options for individuals with
tion in the local school district’s adopted core hearing loss. These factors include age of onset
curriculum (IDEA, 2004). It is also important and severity of hearing loss, family response and
that the students have access to a full range of resources, age of exposure to a language system,
activities, including after-class and extracurric- psychosocial supports, and the nature of other
ular options with appropriate accommodations. disabilities or comorbid conditions. Formulat-
Modifications and accommodations for each ing a prognosis for the child’s ultimate language,
curricular area should be addressed at the IEP educational, and psychosocial development
plan meetings annually, although parents may based on any single variable, however, is not
request a review of the IEP more frequently possible given the current state of knowledge.
if there is a significant change in their child’s Instead, the focus should be on the earliest iden-
status (e.g., cochlear implant surgery; Sorkin, tification of hearing loss and prompt access to
2008). Specialized curriculum areas and accom- intervention that is individually tailored, family-
modations for students who are deaf or hard of centered, and carefully monitored.
hearing are provided in Table 10.6. Facilitating
the transition from high school to adult life is
SUMMARY
also a responsibility of the school system (see
Chapters 31 and 40). Hearing loss can be temporary, persistent, or
For more information and resources permanent; conductive, sensorineural, mixed,
regarding the development and education of or neural; unilateral or bilateral; and congeni-
children who are deaf and hard of hearing, see tal or acquired. It may exist alone or with other
Laurent Clerc National Deaf Education Cen- disabilities. Regardless of the degree or the
ter (2011). For information related to families cause of the hearing loss, it is important for
professionals working with children with hear- Boothroyd, A. (2008). The acoustic speech signal. In
ing loss and their families to understand the J.R. Madell & C. Flexer (Eds.), Pediatric audiology:
Diagnosis, technology, management. New York, NY:
anatomy and physiology of the hearing mecha- Thieme Medical Publishers.
nism and the impact of the hearing loss on the Buz Harlor, A.D., Jr., & Bower, C. (2009). Hearing
perception and processing of spoken language. assessment in infants and children: Recommenda-
Hearing loss in childhood offers a unique tions beyond neonatal screening. Pediatrics, 124,
1252–1263.
opportunity to witness adaptation to perceptual
Centers for Disease Control and Prevention (CDC).
impairment and human resilience in the face of (2011). Summary of 2008 National CDC EHDI Data
a disruption in communication channels. The (Version A). Retrieved January 16, 2011 from http://
child and family’s innate strengths, capacities, www.cdc.gov/ncbddd/hearingloss/2008-data/2008_
and vulnerabilities must be viewed within a EHDI_HSFS_Summary.pdf
Chang, K.W., & Chinosornvatana, N. (2010). Practical
larger social, linguistic, educational, cultural, grading system for evaluating cisplatin ototoxicity in
and environmental context. Hearing loss does children. Journal of Clinical Oncology, 28, 1788–1795.
not have to impede typical development, place Christiansen, J., & Leigh, I. (2004). Children with CIs:
an individual at a functional disadvantage, or Changing parent and deaf community perspectives.
Archives of Otolaryngology—Head and Neck Surgery,
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130, 673–677.
wish to address the needs of children with Christensen, L., Smith-Olinde, L., Kimberlain, J.,
hearing loss must recognize, and make recom- Richter, G.T., & Dornhoffer, J.L. (2010). Compari-
mendations based on, the unique needs of the son of traditional bone-conduction hearing aids with
individual child and family. the Baha system. Journal of the American Academy of
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11 Vision and
Visual Impairment
Brooke E. Geddie, Michael J. Bina, and Marijean M. Miller

■ Be able to describe the anatomy and function of the eye
■ Understand how a child’s vision develops
■ Be aware of “functional vision assessments” as well as tests used to determine
visual acuity and visual fields
■ Know about comprehensive ophthalmology and optometric low vision
assessments
■ Be knowledgeable about ocular abnormalities in children
■ Know the definitions and major causes of visual disabilities, including blindness
and low vision in children and youth
■ Recognize some of the ways in which a young person with visual disabilities
develops differently from a child whose vision is within the typical range
■ Gain an understanding of some approaches to medical and educational
intervention for children with impaired vision
Impaired vision in childhood can have detri- intervention in mind, this chapter explores the
mental effects on physical, neurological, cog- in utero development of the eye and its normal
nitive, and emotional development. A severe structure and function. It also examines ocular
visual impairment can cause delays in walk- disorders and common visual problems. Finally,
ing, speech and language development, as well the effects of blindness on a child’s develop-
as in behavior and socialization if early inter- ment are discussed, and relevant educational
vention services are not implemented. Visual resources are introduced.
impairment can occur as an isolated disability
or associated with other developmental dis- ■ ■ ■ MARY
abilities. Once a visual loss has been identified,
it is imperative that effective medical and spe- Mary is a 12-year-old former very low birth
cial education interventions be implemented weight baby (birth weight 900 g) who has
as early as possible. With the goal of early cerebral palsy and poor vision with associated
169
170 Geddie, Bina, and Miller
nystagmus. Mary benefits from reading materi- At the ophthalmologist’s office, Mary’s bin-
als with highly contrasted enlarged print. As a ocular visual acuity measures 20/50. However,
consequence of prematurity-caused retinopa- with her compound visual disabilities of optic
thy, her retinas have developed myopic degen- atrophy, myopic degeneration, and nystagmus,
eration. She requires glasses, with extremely Mary requires many learning adaptations.
thick lenses (–18.50 right eye and –24.00 left
eye) which reduce her visual field. Mary wrote
STRUCTURE AND
the following essay to describe her disabilities
and adaptations at school:
FUNCTION OF THE EYE
“One thing I don’t like about homework
General Structure & Function
is that sometimes I can’t see the print. I have
a slant board, which brings my work closer so I In many ways, the eye’s structure is similar to a
won’t have to bend over. Because of my shyness camera’s (Figure 11.1). The thick, white non-
I don’t ask to sit closer to the blackboard even transparent fibrous covering of the eye called
if I can’t see the print. Also, I need extended the sclera functions as the camera body. Like
a shutter, the colored region, called the iris,
time for assignments and tests. I sometimes use
responds to changes in light conditions by
a ‘talking’ dictionary that has a speech output.
opening and closing. The pupil is the aperture
My handheld magnifier and distance telescope in the center of the iris. Light rays entering the
assist me; however, I often don’t always use eye through the pupil are refracted by the cor-
them when I know they would help. Also, I could nea (the clear dome that covers and protects
do a better job remembering to go back, scan, the iris) and by fluids (aqueous and vitreous
and check my work.” humor), which fill the globe, before arriving
Figure 11.1. The structure of the eye is similar to that of a camera.

Vision and Visual Impairment 171
at the retina. When functioning normally, the of our species as hunter-gatherers (i.e., fight or
lens, which lies behind the pupil, precisely flight, detection of motion, peripheral field).
focuses the light rays on the retina. The cornea Cones, however, have become more important
is the most important refracting surface of the as humans have evolved to be readers, artists,
eye, accounting for approximately two thirds of and artisans.
the refractive power. Both rods and cones respond to light by
When a person looks at a tree, for exam- undergoing a chemical reaction. For detailed
ple, a series of parallel rays of light leave the vision such as reading, seeing distant objects,
tree and reach the dome-shaped surface of the and having color vision, cones are needed.
cornea, where they are inverted and refracted, They are located primarily in the fovea cen-
or bent, toward a focal point. The lens further tralis of the macula, near the center of the
focuses the light rays through the movement of retina. Each cone is sensitive to one of three
the attached ciliary muscles. The ciliary mus- distinct colors: red, green, or blue. The light
cles contract or relax, changing the shape of the from each color of a tree for instance, elicits
lens, accommodating and fine-tuning the focus a different response from each type of cone.
(Figure 11.2). The image light rays then travel In contrast to the macula where cones are
toward the retina, the photographic film of the mostly found, rods predominate in the more
eye, which lines the eye’s inner surface. peripheral or outside areas of the retina. Rods
With conditions such as high myopia (near- function in diminished light and are therefore
sightedness) or hyperopia (farsightedness) the necessary for night vision.
lens cannot focus enough, and the ciliary mus- The retina sends the image via the optic
cles cannot contract to a degree that reshapes the nerve to the brain for interpretation. One optic
lens enough to permit normal acuity, necessitat- nerve emerges from behind each eye and begins
ing glasses. Likewise, in the case of severe visual its journey toward the brain. Some of the fibers
impairment, a plus or minus diopter prescription from each nerve cross over at a point called the
for eyeglasses cannot make up for the degree of optic chiasm, which is located just before the
impairment and its impact on visual functioning. nerves enter the brain (Figure 11.3). Each optic
Within the retina are two types of photo- nerve (at this point called a tract) continues
receptor cells: the rods and cones. Each retina through the cerebral hemisphere to the occipi-
consists of about 120 million rods and 6 million tal (back) lobe of the brain. Because some nerve
cones. From a Darwinian perspective, rods were fibers from each eye cross to the opposite side,
more important than cones for the primal work each eye sends information to both the right
Figure 11.2. Accommodation. The lens changes shape to focus on a near or far object. The lens
becomes thin and less refractive for distant objects and thicker and more refractive for near vision.
and left sides of the brain. Therefore, damage If the retina, optic nerve, or brain is malformed
to the right or left optic tract at any point after or injured, vision will also be impaired.
the optic chiasm will cause defects in the visual Functionally, visual impairment can be
fields of both eyes (Figure 11.3). By identifying divided into disorders affecting 1) transmission
the part of a visual field affected, an ophthal- of light, 2) central visual field, 3) peripheral
mologist often can determine where the dam- visual field, 4) refraction, and 5) a combination
age has occurred in the brain. of these issues. Categorizing various diagno-
Each structure is important to the eye ses makes it easier to establish common visual
functioning. If the cornea or lens is cloudy or needs such as glare reduction, the need for high
deformed, images will be indistinct and unclear. contrast or print enlargement, the need for high
Figure 11.3. The visual pathway. One optic nerve emerges from behind each eye. A portion of the fibers
from each crosses at the optic chiasm. An abnormality at various points along the route (upper figure) will
lead to different patterns of visual loss (shown as black areas in the lower figures). These are illustrated
A) abnormality at the cortical pathway, B) damage to the optic chiasm, C) retinal damage.
or low illumination, the likelihood for positive is provided by the eyelids, eyelashes, and con-
benefit from magnifiers or telescopes, and so junctiva. Blinking the eyelids wipes dust and
forth. other foreign bodies from the eye surface. Eye-
lashes help to protect the eye from airborne
Ocular Support debris. The conjunctiva, a thin, transparent
The round shape of the eye is maintained by layer covering the sclera, contains tiny nutri-
two substances: the aqueous humor, a watery tive blood vessels supplying the front of the
liquid in the anterior chamber (the space eye. Additional protection includes reflexes that
between the cornea and lens), and the trans- result in the eye turning away and the tough
lucent, jelly-like vitreous humor that fills the leathery flexible sclera which can sustain insults.
posterior chamber (the space between the
lens and retina). The anterior chamber is like a Ocular Motility
water balloon with plumbing to maintain ocu- Six muscles direct the eye toward an object
lar pressure. The aqueous humor is made in and maintain binocular vision (Figure 11.5).
the ciliary body, located just behind the iris, The horizontal recti muscles converge the
and drains out of the eye in the angle where eyes toward the nose for near activities or
the cornea meets the iris through a sponge-like diverge the eyes for far ones. The horizontal
(trabecular) meshwork into Schlemm’s canal recti muscles also move the eyes into right and
(Figure 11.4). If fluid drainage is obstructed or left gaze. The vertical recti muscles serve to
slowed, the pressure rises. This can result in a move the eye up and down and also have some
condition called glaucoma, which can injure rotational functions. The oblique muscles lie
the optic nerve and permanently damage vision. obliquely above and below the eye; their pri-
The eye itself sits in a bony socket of the mary function is to rotate the eyes while their
skull (the recessed orbit, which provides support secondary functions handle moving the eyes
and protection) and is surrounded by the pro- horizontally and vertically.
truding forehead, nasal, and cheek bones. This Three nerves originating in the brainstem
socket also contains blood vessels, muscles that control the movement of these six eye mus-
move the eye, a lacrimal gland that produces cles. Two muscles are controlled by their own
tears, and the optic nerve, which sends images assigned nerve: the trochlear, or fourth, cranial
from the eye to the brain. In addition to the nerve controls the superior oblique muscle, and
recessed orbit, futher protection for the eyeball the abducens, or sixth, cranial nerve controls
Figure 11.4. Glaucoma. Fluid normally drains from the anterior chamber through Sch-
lemm’s canal. A blockage in this passage leads to the accumulation of fluid and, therefore,
increased pressure, or glaucoma.
Figure 11.5. The eye muscles (left). Six muscles move the eyeball. A weakness of one of these muscles causes strabismus. In
esotropia, the eye turns in, whereas in exotropia, the eye turns out. Esotropia and exotropia of the left eye are illustrated.
the lateral rectus muscles. The oculomotor, Genital and/or urinary abnormalities, and Ear
or third, cranial nerve controls the remaining abnormalities and deafness; Jongmans et al.,
eye muscles. The complex, coordinated move- 2006; see Appendix B). These children may
ment of these eye muscles allows us to look in exhibit a variety of congenital anomalies and in
all directions without turning our heads and to some cases have significant vision and hearing
maintain proper alignment of the eyes. The loss impairments.
of this coordinated movement leads to strabis- Abnormalities occurring later in embryo-
mus, misalignment of the eyes (Figure 11.5). genesis, when the eyes usually migrate closer
together, may lead to abnormal widely spaced
eyes, called hypertelorism. Finally, intrauter-
OCULAR DEVELOPMENT ine infections can cause cataracts, glaucoma,
In the human embryo, the structures that will and/or chorioretinitis (an inflammation of the
develop into eyes first appear at 4 weeks’ gesta- choroid and retina), depending on when the
tion as two spherical bulbs, one on each side of infection occurs during development and on
the head (Figure 11.6). They gradually indent which tissues are affected.
to form the optic cups. Three specialized cell
layers in these cups subsequently develop into
DEVELOPMENT OF VISUAL SKILLS
the various parts of the eye. By 7 weeks’ gesta-
tion, when the embryo is only one inch long, As in the acquisition of language and motor
the eyes have already assumed their basic form skills, vision has developmental milestones.
(Sadler, 2009). As fetal growth continues, the Although infants will fixate briefly on a face
eyes gradually move from the sides of the head soon after birth, steady fixation and tracking
to the center of the face. of a small target at near range is not expected
Deviations from typical development can until 3 months of age in term infants. As visual
lead to a wide variety of ocular defects, rang- skills develop, variable eye misalignments can
ing from anophthalmia (lack of eyes), to subtle be seen in early infancy. These misalignments
abnormalities such as irregularly shaped pupils. should diminish over time with the eyes becom-
Ocular malformations can occur as an isolated ing absolutely straight by 3 months of age.
defect or as part of a syndrome (see Table 11.1; Visual acuity improves fivefold in the first
Appendix B). Approximately 15%–30% of chil- 6 months after birth and continues to improve
dren with small eyes and coloboma, a cleft-like over the next 6 years (Braddick & Atkinson,
defect in the eye, have CHARGE syndrome 2011). By age 3–4 years, vision can be objec-
(the letters in CHARGE stand for: Coloboma tively measured by identifying a series of pic-
of the eye, Heart defects, Atresia of the choanae, tures at a distance. The test result should be
Retardation of growth and/or development, approximately 20/40 or better. (A visual acuity
Figure 11.6. Embryonic development of the eye. The eyes first appear at 4 weeks’ gestation as two spherical bulges, one on
each side of the head. They indent in the next week to form the optic cups. By 7 weeks, the eyes have already assumed their
basic form. The eye is completely formed by 15 weeks.
Table 11.1. Selected genetic syndromes associated with eye abnormalities

Syndrome Eye abnormality
Aicardi syndrome Retinal abnormalities
CHARGE association Coloboma, microphthalmia
Galactosemia Cataracts
Homocystinuria Dislocated lens, glaucoma
Hurler syndrome Cloudy cornea
Lowe syndrome Cataracts, glaucoma
Marfan syndrome Dislocated lens
Osteogenesis imperfecta Blue sclera, cataracts
Osteopetrosis Cranial nerve palsies, optic atrophy
Stickler syndrome Extreme myopia
Tuberous sclerosis Retinal defects, iris depigmentation
Tay-Sachs disease Cherry-red spot in macula, optic nerve atrophy
Trisomy 13, trisomy 18 Microphthalmia, coloboma
Zellweger syndrome Cataracts, retinitis pigmentosa
Key: CHARGE association: coloboma of the eye, congenital heart defect, choanal atresia, retarded growth and develop-
ment, genital abnormalities, and ear malformations with or without hearing loss.
result of 20/40 means the child can see clearly of blindness in children (Mickler et al., 2011).
at 20 feet an object that a person with typical A cataract appears as a white spot in the pupil
vision can see at 40 feet.) There also should of one or both eyes; if untreated, it will cause
be minimal vision difference—less than 2 test amblyopia (Figure 11.7). In the newborn nurs-
lines—between eyes. By 6 years of age, visual ery, pediatricians screen for cataracts using an
acuity should be 20/30 or better, and when pos- instrument called a direct ophthalmoscope
sible, should be measured with letters rather and the red reflex test. This permits magni-
than pictures (Committee on Practice and fication of the pupil and retroillumination to
Ambulatory Medicine et al., 2003). look for black spots or irregularities that could
indicate a cataract. Any child with a suspected
Visual Development in cataract should see a pediatric ophthalmologist
Children with Disabilities promptly. A cataract may be an isolated abnor-
mality or part of a syndrome or disease. For
Many of the causes of developmental disabili-
example, children with certain inborn errors of
ties also influence the visual system (Mervis
metabolism (e.g., galactosemia; see Appendix
et al., 2000). In fact, one half to two thirds of
B), congenital infections (e.g., rubella), and eye
individuals with developmental disabilities have
trauma, may develop cataracts.
a significant ocular disorder. Processes govern-
In the case of a dense congenital cataract
ing eye motions, alignment, visual acuity, and
(usually larger than 3 mm), surgery is necessary.
visual perception may mature slowly, partially,
Studies of children with congenital cataracts
or abnormally in these children. Refractive
indicate that binocular vision develops dur-
errors, ocular misalignment, and eye move-
ing the first 3 months after birth. Better visual
ment disorders are especially common. Because
outcomes for children with severe, unilateral
of the links between developmental disabilities
cataracts are found in those who have cataract
and vision problems, it is imperative that a pedi-
surgery before 6 weeks of age (Birch & Stager,
atric ophthalmologist conduct an examination
1996). Children with dense, bilateral cataracts
as part of the overall assessment for a child with
who have surgery after 2 months of age have
a developmental disability.
poorer vision and unsteady eyes (nystagmus)
compared to those having the surgery before 6
Amblyopia
weeks (Lambert and Drack, 1996). The surgery
Until age 9, the visual system remains imma- involves an outpatient procedure in which the
ture and susceptible to a unique type of visual contents of the lens are aspirated, leaving only
regression called amblyopia. Amblyopia is some of the outer lens capsule intact. These chil-
most often unilateral, in which a “healthy” eye dren then require special contact lenses and/or
does not see well because it is “turned off” or glasses with ongoing care for rehabilitation of
ignored by the brain. It is prevalent in 1% to vision. Older children requiring cataract surgery
4% of preschool-aged children (Granet & may receive a lens implant and will also require
Khayali, 2011) and can result from deprivation glasses and long-term ophthalmologic care.
(something obscuring the vision), strabismus,
or refractive etiologies such as anisometropia
(difference in refractive error between the two
eyes). Amblyopia is treated with glasses and/
or patching or eye drops to blur the vision of
the better seeing eye, encouraging the brain to
use and develop the vision of the amblyopic eye
(Matta et al., 2010). If left untreated, amblyopia
can lead to lifelong visual impairment.
COMMON DISORDERS OF THE EYE

IN CHILDREN WITH DISABILITIES
Cataract
Cataract is a defect in lens clarity. Although
cataracts primarily occur in adults, they also
do so in about 1 in 1000 children ages birth to Figure 11.7. Photograph of a cataract, the lens opacity
age 15 years, accounting for about 3% to 39% seen through the pupil.
Optic Nerve Hypoplasia furthest edges (Sylvester, 2008). In premature

infants, this blood vessel growth is incomplete.
In optic nerve hypoplasia, a small, thin optic
In catching up, some blood vessels can grow
nerve transmits impaired information to the
into the vitreous instead of along the retinal
brain, resulting in decreased vision uncorrect-
surface. These abnormal blood vessels cause
able with glasses. Mid-line structures in the
scar tissue, which can constrict, pulling on the
brain can also be underdeveloped, including
retina. This can cause a retinal detachment and
the pituitary gland. Children with unilateral or
subsequent vision loss in the affected eye (Fig-
bilateral optic nerve hypoplasia have neuroim-
ure 11.8). All infants weighing less than 1,500
aging performed, especially when there is poor
grams at birth or with a gestational age of 30
growth to rule out a growth hormone defi-
weeks or less should be screened for ROP by
ciency from pituitary hypoplasia. Optic nerve
an ophthalmologist until the blood vessels are
hypoplasia is a common cause of visual disabil-
matured, around 40 to 45 weeks from concep-
ity and is often associated with other develop-
tion (American Academy of Pediatrics et al.,
mental disabilities.
2006). Additional guidelines have been created
for treating “aggressive posterior ROP” which
Retinopathy of Prematurity may improve outcomes (International Com-
In infants, the most common cause of retinal mittee for the Classification of ROP, 2005).
damage is retinopathy of prematurity (ROP), If ROP becomes severe enough to make
as in the case of Mary. The actual number of detachment likely, the affected area of the retina
affected infants has increased from the mid- is treated with laser application (Quinn et al.,
2000s (Hameed et al., 2004), which is related 2011). Despite treatment, children with ROP
partly to increased survival among very low may have significant visual impairments. Nearly
birth weight (VLBW) infants. It is important to 50% of children born at 27 weeks gestational
identify and treat these infants to preserve their age or less have been found to have subnormal
visual function (Chen et al., 2011). visual acuity and/or strabismus (Haugen et al.,
ROP results from vascular damage to the 2010). In addition, extremely low birth weight
retina. During the fourth month of gestation, infants (those weighing less than 1,000 grams)
retinal blood vessels start growing from the are at increased risk to sustain neurologic insults
optic nerve root in the back of the eye, and by such as intracerebral hemorrhage and periven-
the ninth month, they have reached the retina’s tricular leukomalacia that further impact vision.
Figure 11.8. Retinopathy of prematurity (ROP). Blood vessels in the retina proliferate (left). Eventually they stop growing,
leaving a fibrous scar that contracts in the most severe cases and pulls the retina away from the back of the eye, causing blind-
ness (right). (From Batshaw, M.L., & Schaffer, D.B. [1991]. Vision and its disorders. In M.L. Batshaw, Your child has a disability:
A complete sourcebook of daily and medical care (p. 165). Baltimore, MD: Paul H. Brookes Publishing Co., Inc.; reprinted by
permission. Copyright © 1991 by M.L. Batshaw; illustrations copyright © 1991 by Lynn Reynolds. All rights reserved.)
Infants born at younger gestational ages more Delayed Visual Maturation

commonly have neurodevelopmental disabili- In the infant with visual inattention, it is
ties (Leversen et al., 2011) which can be com- important to differentiate CVI from delayed
pounded by the effects of ROP on vision. visual maturation (DVM). Both groups show
no response to visual stimuli in early infancy.
Other Retinal Disorders   Children with DVM however, have normal
Other disorders that damage the retina include gestational and birth histories, normal eye
nonaccidental injury (e.g., shaken baby syn- examinations, no cortical abnormalities, and
drome) that can cause retinal hemorrhages, usually only mild to moderate developmen-
scarring, and detachment of the retina; toxo- tal delays (Mercuri et al., 1997). Nystagmus
plasmosis and other congenital infections; and does not develop as it does in other causes of
certain inborn errors of metabolism such as visual impairment. The cause is still poorly
Tay-Sachs disease, in which abnormal cellu- understood. In DVM, visual function improves
lar storage material is deposited in the retina. spontaneously in infancy as the child’s over-
Finally, retinal tumors, such as retinoblastoma, all development progresses. Often, by 6–12
can lead to blindness in the affected eye. months of age, an infant with DVM can have
normal or near normal visual function, with
many neurologically normal children reach-
DISORDERS OF
ing a final visual acuity of 20/20 (Nyong’o &
THE VISUAL CORTEX Del Monte, 2008). It is therefore important to
The visual cortex is the region of the occipital encourage visual stimulation in all such infants.
lobe responsible for receiving and decoding
information sent by the eyes. The information is STRABISMUS AND
subsequently relayed to the temporal and pari-
etal lobes. Damage to these areas can result in a
OCULAR MOTILITY DISORDERS
type of visual loss called cortical visual impair-
ment (CVI; previously called cortical blindness). Strabismus
In children, this condition is most commonly Strabismus (misalignment of the eyes) occurs in
caused by oxygen deprivation (hypoxia), infec- about 3%–4% of all children. It occurs, how-
tions of the central nervous system (encephali- ever, in 15% of former premature infants and
tis), traumatic brain injury (see Chapter 26), and in 40% of children with cerebral palsy (Olitsky
hydrocephalus (Ospina, 2009). & Nelson, 1998). There are three main forms
of strabismus: esotropia (cross-eyed), in which
Cortical Visual Impairment the eyes turn in, exotropia (wall-eyed), in which
Cortical visual impairment (CVI) is character- the eyes turn out (Figure 11.5), or a hyperde-
ized by visual perceptual deficits in the setting of viation, which is a vertical misalignment of the
an ophthalmologic examination that is normal eyes (Granet & Khayali, 2011). Strabismus may
or has only minor abnormalities. CVI is one of be apparent all the time or only intermittently,
the most common causes of visual impairment such as when the child tires. Recall that strabis-
in children in the developed world (Roman- mus is a cause of amblyopia in children younger
Lantzy, 2008). Children with CVI present a than 9 years of age. Misalignment of the eyes
variety of classic behaviors, and visual attention can result from an abnormality in eye focusing,
can range from mildly impaired to absent. Early in the nerves supplying the eye muscles, in the
on, parents note that their infant responds to eye muscles themselves, or in the brain regions
light and dark but may not look directly at the controlling eye movement (Wright, 2007).
parents’ faces, even at 6 months of age. The Esotropia can be divided into congenital,
parents may be uncertain what the child sees, accommodative, or other causes (such as second-
but they are certain the child has some vision. ary to poor vision or acquired from a nerve or
Later, when the child is more alert, the par- brain abnormality). Children with congenital
ents observe intermittent or brief visual track- or infantile esotropia have crossed eyes (persist-
ing behavior. The child may “look over” items ing after 3 months of age) that require surgi-
but not directly at them. Also, these children cal correction. With regard to eye focusing, or
can see better peripherally if the object or they accommodation, the eyes normally converge
are moving. A full ophthalmologic examination toward the nose to read a book (near vision).
must be performed to rule out treatable causes Children who are farsighted must do this same
of visual impairment. sort of accommodation for both distance and
near vision. In some children, this focusing effort Nystagmus

leads to esotropia after the age of 2 years, which By 3–4 months of age a child has developed
can be improved with eyeglasses that correct the the ability to fixate on objects (Nyong’o & Del
farsightedness. Neurological problems such as Monte, 2008). Interruption of this develop-
cerebral palsy may alter the brain’s signals to the ment results in nystagmus, a rapid jiggling back
eye muscles and cause strabismus, which would and forth (most commonly horizontally) of the
then need to be treated with surgery. This is eyes. A small optic nerve (optic nerve hypopla-
also true for the child with hydrocephalus who sia), underdeveloped fovea (foveal hypoplasia),
may develop strabismus as a result of nerve palsy a variety of rod or cone abnormalities, or other
caused by increased intracranial pressure. Infants causes of visual impairment can result in nys-
with constant exotropia (after 3 months of age) tagmus. Some children have idiopathic congen-
often have contributing neurologic abnormali- ital nystagmus in which there is no anatomic
ties and therefore warrant further evaluation. disorder. Nystagmus can be latent (only present
Intermittent exotropia is more common in the with occlusion of one eye) or manifest (constant
otherwise-healthy child and is often treated at all times).
with glasses, patching, convergence exercises, or Evaluating children with nystagmus should
surgery. When necessary, strabismus surgery is include a comprehensive pediatric ophthalmo-
done to adjust the position of the eye muscles to logic examination. When the retina appears
achieve better alignment. Approximately 80% of normal yet the vision is poor, an electroretino-
children show good ocular alignment following gram (ERG) may be suggested to test rod and
strabismus surgery, not needing further surgical cone function. If there is evidence of neurologic
intervention (Lueder, 2010). disease or if the nystagmus has atypical features
Figure 11.9. Refractive errors. If the eyeball is too long, images are focused in front of the retina (myopia). A concave lens
deflects the rays, correcting the problem. If the eyeball is too short, the image focuses behind the retina and is again blurred
(hyperopia). A convex lens corrects this. In astigmatism, the eyeball is the correct size, but typically the cornea is misshapen. A
cylindrical lens is required to compensate.
such as rotatory or vertical components, then rays intersect. The accommodative load on the
neurologic evaluation with neuroimaging child to maintain sharp focus must be consid-
should be considered. ered, especially in children with disabilities.
When farsightedness exceeds 4 diopters, the
Anomalous Head Posture accommodative load may be so great that the
Abnormal head postures can be caused by a child always has blurred vision except for brief
number of ophthalmologic conditions, includ- moments when something exceptionally inter-
ing strabismus and nystagmus. Thus, children esting triggers more complete accommodation
with tilted or turned heads should see an oph- effort and precise focus. Children with more
thalmologist as part of their evaluation. Chil- than 5 diopters of hyperopia can develop both
dren with nystagmus turn the head so that the amblyopia and esotropia.
eyes are placed where they jiggle the least and With myopia, the child sees clearly only at
vision is most stable (the “null point”). Strabis- a near range. Severe myopia, such as that found
mus surgery can reposition the eyes so that this in former premature infants who had ROP, may
null point is in the head-straight position. When have a clear range of focus of only a few inches
vertical strabismus is present because of a con- from the face. These children need eyeglass
genital paralysis of the superior oblique muscle, correction from infancy to expand their dis-
the head tilts toward the opposite shoulder, to tance vision. Mild refractive errors, conversely,
align the eyes. In these children strabismus sur- may not necessitate glasses if a child is function-
gery can be done to correct the torticollis. ing well. Both severe hyperopia and myopia,
however, can impair the development of the
visual system, causing amblyopia and affecting
REFRACTIVE ERRORS IN CHILDREN the child’s interactions with the world.
As discussed previously, light entering the eye In children with disabilities, even small
is focused by the cornea and lens. Under opti- refractive errors may be corrected to opti-
mal conditions, light rays are perfectly refracted mize performance. Furthermore, when there
onto the retina, resulting in a clearly focused is a significant difference in the refractive error
image. If the eye is too long or if the refract- between eyes, glasses must be prescribed to avert
ing mechanisms of the eye are too strong, the amblyopia in the eye with poorer focus. In these
focused image falls in front of the retina, blur- cases, glasses ensure that the images focused on
ring the picture (Figure 11.9). This is called the retina of each eye are of equal clarity.
myopia, or nearsightedness. If the eye is too Eyeglasses can be prescribed even for the
short or the refracting mechanisms are too youngest infant and for the child with multi-
weak, the image is focused behind the retina, ple disabilities, thanks to a method for assess-
also producing a blurred image (Figure 11.9). ing refractive errors that relies completely on
In this instance, the person has hyperopia, or objective measures rather than on subjective
farsightedness. The other common refractive input from the child. After instilling eye-drops,
problem is astigmatism (Figure 11.9). Astig- which dilate the pupils and paralyze accommo-
matism typically occurs when the surface of the dation, the ophthalmologist views the child’s
cornea has an elliptical rather than spherical eyes through a retinoscope (a magnifying,
shape. Because of this, light rays entering the streaklight source) and can determine, using
eye do not focus on a single point and the image lenses of varying powers, the refractive error
is blurred. and the required correction. Eyeglasses can
Farsightedness is the most common refrac- then be prescribed.
tive error of childhood. The important differ-
ence between myopia and hyperopia is that
with farsightedness, the eye can use its power VISION ASSESSMENT
of accommodation to further focus light rays Primary care providers should follow the Amer-
onto the retina. As a result, most children with ican Academy of Pediatrics Policy Statement
mild farsightedness require no correction and on eye examination guidelines (Committee on
have excellent visual acuity. Hyperopia of more Practice and Ambulatory Medicine et al., 2003).
than 4 diopters, however, often requires correc- These age-specific screening guidelines include
tion with glasses. A diopter is a unit of light- evaluation for the normal and symmetric red
bending power of a lens; it is the reciprocal of reflex from both eyes spontaneously (red reflex
the distance in meters to the point where the test), corneal light reflex or cover test of ocular
alignment, and developmentally appropriate In the nonverbal child, a matching game

visual acuity testing. Any children with a poor can be used in which the child points to the fig-
visual assessment should be directed to the care ure on a near card to show what he or she sees a
of a pediatric ophthalmologist. distance. Although it is easier to test visual acu-
Assessing the visual function of children ity by showing characters one at a time rather
with developmental disabilities is critical in than in groups, this tends to underestimate
determining the best interventions. It is impor- amblyopia, a phenomenon called the crowding
tant to spend time asking the parents from their effect. This problem is avoided by using a dis-
perspective what the child can see or not see, tance chart in which only the letters H, O, T,
as the parent observes the child in multiple and V appear with black bars (crowding bars)
lighting conditions and in different settings, around the letters, allowing characters to be
as well as when the child is rested or tired. Of shown individually.
importance is that parents’ “assessment,” while
not scientific, is more than a one-time snap- Other Techniques for
shot of visual ability. The parents perspective Assessing Visual Function
plus the clinical examination can better capture
what the child actually sees, doesn’t see, what Several techniques are available for screen-
accommodations assist him or her to see better. ing or testing visual function without relying
Blind or low-vision students undergo a formal on verbal responses or character recognition
“functional visual assessment” by their teacher (Jackson & Saunders, 1999). These techniques
of the visually impaired. The reports of these include photoscreening, optokinetic nystag-
assessments should be requested by the primary mus (OKN), preferential looking (PL), visual
care provider, if available, to provide additional field, and electrophysiological testing.
information. This multidisciplinary perspective
Photoscreening
can be invaluable.
Photoscreeners are computerized devices being
Visual Assessment in more commonly used for visual screening of
young children, especially preverbal or chil-
Infants and Nonverbal Children dren with developmental delays. These devices
As noted above, regarding infants or children take images of the red reflexes of the eyes. The
with disabilities, parental report may be the data of the images is analyzed for detection of
best indicator of visual function. Infants under 3 amblyogenic risk factors such as strabismus, sig-
months of age should blink to a light presented nificant refractive error, media opacities (such
to their eyes, elicit an “eye-popping” reflex as cataract), and retinal abnormalities. There
when room lights are dimmed, and direct their are a variety of photoscreening devices avail-
vision towards faces and high-contrast objects. able with standard detection criteria (Dona-
Red reflex testing is vital for early detection hue et al., 2003). Photoscreening can be useful
of vision abnormalities such as cataracts, glau- for screening large populations of children for
coma, retinal abnormalities, and high refractive potential visual problems, identifying those that
errors (American Academy of Pediatrics et al., need a comprehensive assessment by a pediatric
2008). Additional steps to assess vision in chil- ophthalmologist.
dren 3 months to 3 years of age involve evaluat-
ing the child’s ability to fixate and follow objects Optokinetic Nystagmus
with each eye. The OKN response is determined by rotating
a black-and-white, vertically striped drum in
Visual Assessment in front of the child’s eyes. Similar to the effect of
Toddlers and Older Children watching a picket fence from a passing car, the
Various tests are available for measuring visual child’s eyes should jiggle back and forth as they
acuity. Many children beginning at age 3 to 3½ follow the movement of one stripe and then
years can identify picture characters or symbols quickly jerk back to fixate on another. OKN is
on an eye chart (Chou et al., 2011; US Preven- an involuntary response but may not be well-
tive Services Task Force, 2011). Several symbol developed until several months of age, even
tests exist: Allen pictures, LEA symbols, and the in the normal infant (Nyong’o & Del Monte,
HOTV test. For older children, the tumbling 2008). It is estimated that the minimum vision
E test, Snellen numbers, and Snellen letters are necessary for an OKN response is perception of
available. fingers held in front of the eyes (Brodsky, 2010).
Preferential Looking Techniques testing, modified contact lenses are placed on

Preferential Looking (PL) testing relies on the the corneas of the child after putting in topi-
fact that an infant or young child will preferen- cal anesthetic drops. Depending on the type
tially fixate on a boldly patterned striped target of equipment used, one to three electrodes are
rather than on an equally luminous blank tar- also affixed to the face and/or body. Lights are
get. In PL testing, the child is shown a series of momentarily flashed in the child’s eyes under
cards containing a pattern of black-and-white different conditions while a computer analyzes
stripes, or gratings, on one side and a blank the information received from the electrodes
gray target of equal luminance on the other and from leads attached to the contact lenses.
side (Dobson et al., 1995) while the examiner Visual Evoked Potential
watches through a peephole. The stripe widths
VEP testing may be considered once an ERG
become progressively thinner on successive
indicates that the retina is functioning normally.
cards, creating finer gratings that require better
Flash VEP testing is used to evaluate the path-
visual resolution. The most finely-lined stripes
way between the eye and the brain in children
for which the child reliably looks to the pat-
suspected of having cortical visual impairment.
terned side is called the grating visual acuity.
Pattern VEP testing is used to assess visual acu-
Grating visual acuity is an estimate and is not as
ity in infants and children with severe disabili-
precise in the low vision setting as is the Snellen
ties. Pattern VEP testing for children, however,
vision chart.
is available only at a few research centers, and
flash VEP provides limited information.
Visual Field Testing
The visual field test is a method of measuring
an individual’s scope of vision. Visual field test-
BLINDNESS
ing maps the peripheral visual fields of each eye The definition of blindness from a legal and
individually. Because it is a subjective examina- federal educational perspective is visual acu-
tion, requiring the patient to understand the ity of 20/200 or worse in the better eye with
testing instructions, it cannot be accurately per- correction, or a visual field that subtends to an
formed in young children or individuals with angle of not greater than 20 degrees instead of
significant cognitive impairment. This test- the usual 105 degrees (Individuals with Disabil-
ing is important, however, because visual field ities Education Improvement Act of 2004, PL
deficits can functionally interfere with learning. 108-446). Individuals with low vision (partially
Peripheral vision loss can be an indicator of a sighted) are defined as having a visual acuity
progressive degenerative disorder and therefore better than 20/200 but worse than 20/70 with
may worsen over time. These changes may not correction. Both of these categories of students
be appreciated without testing because central are considered to have visual impairments. It
vision remains intact. Even though the progres- should be noted that from a functional stand-
sive condition may not be able to be treated point, it is not the acuity or field numbers that
medically, identifying it is important as special are all-important. Each person functions differ-
education services would be highly valuable to ently with the vision they retain. Therefore care
an affected student and his or her family. providers should guard against making a judg-
ment based on the clinically derived measures
Electrophysiological Testing alone; talking to parents and getting informa-
Electrophysiological testing includes electro- tion from school staff are also important. Most
retinograms (ERGs) and visual evoked poten- people who are legally blind have considerable
tials (VEPs) to determine whether the vision useful vision and may be able to distinguish
problem lies primarily in the eyes or the brain light and dark or to detect objects (20/500 to
(Almoqbel et al., 2008). 20/800) or may read enlarged print or regular
print using magnification (20/200 to 20/500).
Electroretinogram Yet, someone with 20/400 to 20/500 vision is
An ophthalmologist may decide to obtain an unlikely to read print efficiently enough for it to
ERG when the retina looks normal but vision be a primary learning or information-gathering
is absent or very poor. The ERG tests retinal medium. Other people who are blind, however,
functioning by evaluating the quality of cone cannot perceive the difference between light
and rod response to light stimuli. It is particu- and dark.
larly useful in demonstrating diseases of the ret- In the educational and rehabilitation field
ina and for assessing poor night vision. In ERG blindness is defined functionally as a degree
of vision impairment that is so significant that Developmental Variations in the

vision cannot be used as the primary channel Child with Severe Visual Impairment
for learning. A person with low vision can use
their vision as a primary channel for learning, One might expect severe visual impairment to
but the individual may also need to use other result in lags in early childhood development
modalities, such as auditory or tactile, to assist. (Brodsky, 2010). Being unable to establish eye
To provide the best services and treatment to contact with parents could have an impact on
children with multiple disabilities and some the infant’s attachment and socialization skills.
degree of visual impairment, it is important to Preverbal communication, which is dependent
know the extent of limitations from the visual on visual observation and imitation, could be
impairment (Holbrook, 2006; Salisbury, 2007). delayed. Hypotonia and/or fear of movement
combined with parental concern about injury
Causes of Blindness might affect the development of motor skills
in the child who is blind. Studies that have
In childhood, the causes of blindness are many
examined these issues have in fact found devel-
and varied. The three leading causes of visual
opmental delays, but the delays appear to be
impairment in the United States are 1) corti-
dependent on the amount of residual vision and
cal visual impairment, 2) ROP, and 3) optic
the presence or absence of associated develop-
nerve hypoplasia (Hatton, 2001). Malforma-
mental disabilities (Hatton et al., 1997).
tions of the visual system range from coloboma
The early development of children with
of the retina to optic nerve abnormalities and
vision better than 20/500 and with no other
cerebral malformations. Other causes of blind-
severe associated impairments may approximate
ness include traumatic brain injury, severe eye
that of sighted children, whereas that of children
infections, and tumors. Blindness is far more
with less than 20/500 visual acuity (or 20/800 in
prevalent in developing countries, where nutri-
some studies) has shown significant lags in early
tional disorders such as vitamin A deficiency
developmental milestones (Figure 11.10). Chil-
and infections such as trachoma, measles, and
dren with early developmental lags, provided
tuberculosis are common.
that they have no associated severe developmen-
tal disabilities (e.g., cerebral palsy, intellectual
Identifying the Child with disability, hearing impairment), function in the
Severe Visual Impairment typical range by school age. If there are asso-
Blindness can be an isolated disability or part ciated impairments, however, the delays will
of a condition involving multiple disabilities. persist. The origin of the visual loss (eye, optic
For example, visual impairment caused by an nerve, brain) does not seem to influence the
inherited disorder such as albinism (in which degree of delay in milestone acquisition.
there is a reduction in retinal pigment) may Children with visual impairments who reach
be an isolated finding, whereas CVI caused by most early developmental milestones at a typi-
hypoxia in the newborn period is often asso- cal age may show some delays (Dutton & Bax,
ciated with cerebral palsy and intellectual dis- 2010). Searching for dropped objects, crawling,
ability. About half of all children with severe and walking without support are all acquired
visual impairments have co-morbid develop- later. Decreased motor development in visually
mental disabilities. impaired children correlates with being less phys-
Several clues may indicate that an infant has ically fit. There is a higher rate of obesity than in
a severe visual impairment (Brodsky, 2010). The sighted children age 6–12 years, so promoting a
child will not visually fixate on a parent’s face healthy and active lifestyle in children with visual
or show interest in following brightly colored impairment is especially important (Houwen,
objects. Parents also may notice abnormalities Hartman, & Visscher, 2010). Differences also
in the movement of the child’s eyes, including surface in the use of words and difficulty with
wandering eye motions, nystagmus, or eyes that pragmatics and pronouns (e.g., saying “you” for
always gaze in one particular direction. In addi- “I”; Perez-Pereira & Conti-Ramsden, 1999). In
tion, the infant may not blink or react when a the child who is blind with average intelligence,
threatening gesture is made or a bright light is speech and language reach typical levels by
shined in the eyes. Some children with severe school age. Speech, however, is accompanied by
visual impairment habitually press their eyes less body and facial “language,” and conversation
(known as the oculodigital sign). Any of these skills may be less developed. In all areas, children
findings should lead to a thorough examination with an isolated visual disability will be capable of
by an ophthalmologist. reaching developmental milestones.
In addition to developmental differences, Early Intervention for

there may be some atypical behavioral man- the Infant and Young Child
nerisms. These self-stimulatory actions include
with Severe Visual Impairment
pressing the eyes, blinking forcefully, gazing
at lights, waving fingers in front of the face, The pediatric low-vision population has special
rolling the head, and swaying the body (Fazzi needs that require a comprehensive manage-
et al., 1999). Pressing the eyes seems to occur ment program, including clinical, rehabilita-
only in children with retinal disease, in whom tion, and educational aspects, with an emphasis
it produces visual stimulation. However, firm on early intervention to maximize the child’s
pressing or poking the eyes, risks damaging the residual vision (Oldham & Steiner, 2010). As
globe. These mannerisms usually can be extin- soon as an infant is diagnosed with a severe
guished with behavioral intervention. visual impairment, he or she should be entered
It is interesting to note that the child with into an early intervention program. The early
congenital blindness may be unaware of having intervention staff should be trained in the
an impairment until 4–5 years of age. In the effects of visual impairment on a child’s early
school-age child, however, social skills impair- development, and the team should include an
ments may be related to social isolation and orientation and mobility specialist and a teacher
poor self-image. Therefore, including a child certified in the area of visual impairment. The
in a program with typically developing children focus should be to increase skills in other senses,
should include an agenda to promote socializa- to improve body concept and awareness, and to
tion (Cochrane et al., 2011). promote locomotion and active exploration of
Most tests of infant development are based the environment (Roman-Lantzy, 2009).
primarily on performance of visual skills and While awake, infants should be placed
may not be optimal in evaluating infants with on their stomach rather than on the back to
severe visual impairment. Alternative non- strengthen neck and trunk muscles. The young
visually based developmental scales should be child with a severe visual impairment must
used to help in educational planning (Arzubi & explore the world through touch and sound.
Mambrino, 2010). Brain imaging studies have shown that, in
Figure 11.10. Age of attainment of motor skills in sighted and blind children. The motor development of a blind child is
delayed. (From Insights from the blind: Comparative studies of blind and sighted infants [p. 204], by Selma Fraiberg. Reprinted
by permission of Basic Books, member of Perseus Books Group.)
people blind from an early age, the visual cortex social skills training and strategies to eliminate
can be used for processing tactile and auditory mannerisms may also be a part of the program.
information (Theoret et al., 2004). Therefore, It is important to create an attitude of stimulat-
parents and therapists should place or store tex- ing all areas of sensory development, including
tured and sound-producing toys at a height the visual skills, in the child who has some residual
child can reach. If there is any usable vision, the vision. It is equally important that the parents
child should be encouraged to take advantage of and other caregivers do not perform too many
it; bright colors should be used, and the child’s tasks for the child so that he or she is encouraged
vision and attention directed verbally toward to interact with the environment. Otherwise, the
them (Holbrook, 1995). It is very important for child will develop a distorted understanding of
the parents, teachers, and therapists to verbally how the world works.
cue the child with information prior to being
touched/handled in order to eliminate any Educating the School-Age
resistance to touch (tactile defensiveness; War-
Child Who is Blind or Has Low Vision
ren, 1994).
The child’s name should be used frequently By the time the child reaches school age, the
to encourage inclusion in conversations and to extent of the visual loss is often clear. A child’s
ensure that the child will respond to questions ability to work efficiently without excessive
in the absence of verbal cues. There also should fatigue, to have an adequate reading rate with
be a verbal explanation before, during, and after a variety of materials, and the possibility of
a task is performed (Ferrell, 1985). While the progressive visual loss will all be factors consid-
child is moving from one space to another, the ered by the school. Some children will succeed
purpose of the move and the orientation of the best with optical aids and devices and larger-
space should be explained. print books or electronic readers (e.g., Kindle),
Orientation encompasses such skills as whereas others may succeed best with braille
laterality and directionality. In terms of orien- or learning media or both, referred to as dual
tation and mobility, the child is first taught by media.
an orientation and mobility specialist to locate Braille is a code formed from a series of
familiar objects within the home and then pro- raised dots on a page that are read from left to
gresses to travel outdoors. The child should be right, as print is read visually (Massof, 2009).
urged to walk despite the risks of scrapes and Readiness for braille begins in kindergarten
bruises. Poor peripheral vision (tunnel vision) (Roth & Fee, 2011). Fine motor skills and tac-
is more of a problem in walking than is the loss tile sensitivity skills are developed first as these
of central vision. Any residual vision, however, are essential in the learning process. When the
is better than total absence of vision. The use of child is able to recognize small shapes, differen-
mobility aids for walking should be encouraged, tiate between rough and smooth, and follow a
including push toys. line of small figures across a page, the learning
The educational placement for the child of the braille alphabet can begin.
depends on age, extent of visual impairment, and Children with severe visual impairments
associated disabilities (see Chapter 31). For the should also learn to type on a computer. In addi-
young child, an infant and toddler program usu- tion, a wide variety of books on tape are avail-
ally entails a weekly home-based session in which able from Recording for the Blind & Dyslexic
the early childhood educator visits and works with (see http://www.rfbd.org) and from bookstores
the parent to set up a stimulating environment. and libraries. It is critical to make sure that the
By 2–3 years of age, the child is usually ready child has all of the equipment needed for learn-
for a school-based preschool program. Over the ing and independence and that is appropriate
next few years, listening, concept development, for particular needs. With these tools, children
conversation, and daily living skills (e.g., dress- with severe visual impairments should be able to
ing, eating, personal hygiene) are emphasized. succeed in the general education environment.
Literacy modality assessment, called Learning Other factors in their success are specific and
Media Assessments, can also begin at this time comprehensive instruction in learning braille
so that emergent literacy activities can be part as early as possible, developing orientation and
of the child’s educational program. Self-dressing mobility skills, and utilizing low vision aids. It
can be encouraged by individualized strategies. is imperative that instruction in braille be part
These include using loose clothing and Velcro of the student’s IEP and taught by trained and
straps to fasten shoes, pants, and shirts. Play and certified professional special educators.
Assistive Technology Outcome for Visually Impaired Child

The omnipresence of computers is greatly ben- Visual impairment can be progressive or
efiting individuals with severe visual impair- nonprogressive, dependent on the etiol-
ment. Voice recognition software permits ogy. Outcome for the child with severe visual
individuals to input instructions and dictate to impairment depends on the amount of residual
computer applications. Additionally, there are vision, the presence of associated disabilities,
various devices that “talk,” including adapted the motivation of the child and family, and
calculators, computers, and other assistive the skills of the child’s teachers and therapists.
technology devices that provide auditory infor- With severe visual impairment, there may be
mation. Closed circuit televisions, electronic effects on overall health, self-perception, edu-
readers, high-contrast monitors, magnifiers, cational attainment, occupational choices, and
and telescopes can be very useful in the edu- other social factors (Davidson & Quinn, 2011).
cation and daily living of the school-age child In general, less severe visual impairment and
with low vision. There are also computers that absence of associated disabilities predict typical
convert print into braille and haptic interface development and good outcomes for indepen-
technology that makes digital information tac- dence and occupational success.
tile (Benedict & Baumgardener, 2009).
Communities are also becoming more SUMMARY
accessible to individuals with visual impair-
ment by implementing elevators that announce Abnormalities of the visual system are among
floors, crosswalk indicators that beep when it the many obstacles that children with disabili-
is safe to cross the street, and ramps. The use ties may face. These may result from congenital
of personal global positioning system (GPS) defects or acquired disorders or injuries. The
software is also beneficial; however, it provides visual challenges encountered may range from
information as a supplement to a cane but not minor to severe, transient to permanent, stable
as a primary orientation aid. to progressive, and ocular to cortical. Children
with developmental disabilities, as a group,
Genetic Advances are at higher risk for visual impairment than
Genetic research is advancing with current children in the general population. Because
clinical trials for gene-replacement therapy for the visual system is undergoing a process of
genetic forms of visual impairment in which maturation during childhood, early recogni-
a normal copy of a patient’s defective gene is tion of visual disorders is essential to ensure
introduced under the retina with a viral car- prompt treatment and to optimize an outcome
rier (Simonelli et al., 2010). As our knowledge of improved vision. Therefore, careful visual
of genetics increases, the possibilities of gene- assessment is important for all children and
therapy for visual-impairment conditions may can be performed regardless of a child’s level
become a reality. of impairment or ability to cooperate. The
outcome for children with visual impairments
Intervention for Children depends on the degree of the visual loss, devel-
opmental status, motivation of child and family,
with Multiple Disabilities
and skill of involved teachers and therapists.
The incidence of blindness in children with
multiple developmental disabilities is more
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12 The Brain and
Nervous System
Amanda Yaun, Robert Keating, and Andrea Gropman

■ Understand the anatomy of the brain and the interaction of its parts
■ Be knowledgeable about the roles of the peripheral nervous system and the
autonomic nervous system
■ Comprehend the structure and importance of the neuron, the functional unit of
the central nervous system
■ Be able to describe the origin and function of cerebrospinal fluid and its associ-
ated blockage in hydrocephalus
■ Have knowledge of current and future trends for evaluating the nervous system
■ Understand the current imaging technologies used to evaluate the central and
peripheral nervous system
Long viewed as an incredibly complex com- THE BRAIN AND SPINAL CORD
puter, the central nervous system (CNS) is con-
siderably more complicated than any machine The brain and the spinal cord comprise the
made to date (Tanaka & Gleeson, 2000). Each mature CNS and have six main structures:
component of the nervous system controls 1) the cerebral hemispheres, 2) basal ganglia,
some aspect of behavior and affects interaction 3) thalamus, 4) brainstem, 5) cerebellum, and
with the surrounding world. An impairment of 6) spinal cord (Crossman & Neary, 2010; Gold-
any part of this system reduces the ability to berg, 2010).
adapt to the environment and can lead to dis-
orders as diverse as learning disabilities, autism The Cerebral Hemispheres
spectrum disorders (ASD), cerebral palsy, During embryonic development the neu-
and epilepsy. This chapter provides an over- ral tube, the primitive precursor to the CNS,
view of the interrelationships between the indi- develops three bulges that form the main brain
vidual elements of the CNS. It also describes components (see Chapter 2). The forward-
examples of CNS dysfunction and their effects most bulge, called the prosencephalon, devel-
on the child. ops and becomes the left and right cerebral
189
190 Yaun, Keating, and Gropman
hemispheres. Each hemisphere consists of an together by a band of fibers called the corpus
outer cerebral cortex (where most neurons, or callosum that permits the exchange of infor-
brain cells, are located), subcortical white mat- mation between the two hemispheres (Figure
ter (where the “wiring” of the brain is found), 12.1A and 12.1B). There are genetic and envi-
and deep masses of gray matter collectively ronmental factors that may interfere with the
called the basal ganglia (containing special- normal formation of the corpus callosum and,
ized groupings of neurons). Within each hemi- in the most severe cases, result in its complete
sphere there is a fluid-filled cavity called the lack of development (agenesis of the corpus
lateral ventricle. The hemispheres are joined callosum). The importance of this exchange
Figure 12.1. A) Lateral view of the brain showing the component elements: cerebral hemi-
spheres, diencephalon, cerebellum, brainstem, and spinal cord. B) Lateral view of brain by
magnetic resonance imaging (MRI) scan. Note the excellent reproduction of the structures of
the brain. C) Side view of the left hemisphere. The cortex is divided into four lobes: frontal,
parietal, temporal, and occipital. The motor strip, lying at the back of the frontal lobe, is high-
lighted. It initiates voluntary movement and is damaged in spastic cerebral palsy.
The Brain and Nervous System 191
of information is highlighted by the results of process sensory input. The cortex of each lobe
a surgical procedure called a corpus calloso- is responsible for specific activities or functions,
tomy. In this operation, a portion of the cor- outlined in more detail below.
pus callosum is cut in an attempt to control a
severe seizure disorder (Sunaga et al., 2009). The Frontal Lobe
It has proven quite effective in decreasing the The frontal lobe controls both voluntary motor
spread of seizure activity, but in some adults it activity and important aspects of cognition (Bro-
has resulted in declines in language, visual-perdal, 2010). It also plays an important role in
ceptual skills, and manual dexterity (Jea et al., attention and emotion and may be impaired in
2008; Lin et al., 2011). intellectual disability (ID) and attention-deficit/
In early fetal life, the surface of the cere- hyperactivity disorder (ADHD) as well as in cer-
bral hemisphere is smooth. As the brain’s com- tain genetic disorders (e.g., frontal lobe epilepsy
plexity increases during the third trimester, and Pick’s disease). The anterior cingulate cortex
involutions called fissures and sulci appear. and frontoinsular cortex, in particular, are con-
Fissures, which are deeper than sulci, are first nected to processing information across a variety
visible during fetal development and divide each of domains, including those related to attention
hemisphere into four functional areas or lobes. and emotion (Bush et al., 2000; Carter et al.,
The frontal lobe occupies the anterior third 1998; Craig, 2009; Critchley et al., 2004; Devin-
of the hemisphere; the parietal lobe sits in the sky et al., 1995).
middle-upper part of the hemisphere; the tem- Within the frontal lobe the different areas
poral lobe is in the middle-lower region; and of the body are represented topographically
the occipital lobe takes up the posterior quarter along a strip called the primary motor cortex.
of each hemisphere (Figure 12.1C). The sulci The tongue and larynx, or voice box, are con-
are smaller involutions within each lobe, and trolled from the lowest point followed in an
the regions between the sulci are called con- upward sequence by the face, hand, arm, trunk,
volutions or gyri. Some gyri vary little in loca- thigh, and foot (Figure 12.2). The tongue, lar-
tion and contour from one person to another, ynx, and hand occupy a particularly large area
whereas others vary considerably. along this strip due to the complexity of speech
The surface of the cerebral hemisphere is and fine motor activity.
called the cortex, consists of gray matter, and A nerve impulse initiated in the motor strip
is composed principally of neurons (nerve cell passes down the pyramidal or corticospinal tract
bodies) and glia (supporting cells). Below this that connects the cortex with the spinal cord.
gray matter lie the nerve fibers (axons) or white Reaching the spinal cord, the impulse passes
matter. The function of the cerebral cortex is to across a synapse (junction between two nerve
initiate motion and thought processes, and to cells) to an anterior horn cell in the gray matter
Figure 12.2. The motor strip. The cartoon figure represents body parts at various points on the strip. Note that the areas
representing facial and hand muscles are very large. This is because of the intricate control necessary for speech and fine motor
coordination. A cross-section of the motor strip is shown to the right.
section of the spinal cord. This neuron relays the The frontal lobe is also important in
transmission via its axon to a peripheral nerve that abstract thinking. Via functional imaging tech-
connects to an appropriate muscle. The muscle niques, the frontal lobe has been identified as
subsequently contracts in response to the original the origin of executive function (Arnsten, 2009;
signal from the motor strip in the cortex. In spinal Brocki et al., 2008; Green et al., 2008). This
muscular atrophy (Werknig-Hoffmann disease), high-level abstract thinking is the planner and
the motor neuron dies during childhood, result- organizer for future activities. Children with
ing in hypotonia (low muscle tone or “looseness” ADHD, learning disabilities, and autism show
of the muscle) and weakness (Lorson et al., 2010; deficiencies in executive function (Rubia et al.,
Wee et al., 2010; see Chapter 13). 2011; Tripp & Wickens, 2009; see Chapters 21,
Conversely, if the motor cortex or the 22, and 23). Broca’s area (Figure 12.3), the cen-
pyramidal tract is damaged, increased tone in ter for expressive language, typically resides in
the form of spasticity results. In spasticity, the the left frontal lobe, anterior to the motor strip
underlying involuntary muscle contractions (see Chapter 20). The location can vary, par-
controlled by the brainstem and spinal cord are ticularly in children who are left-handed, have
no longer inhibited by pyramidal tract activity. epilepsy, or have prior destructive lesions such
As a result, voluntary movement becomes less as tumors or stroke (Gaillard et al., 2007).
fluid, as seen in cerebral palsy and other move-
ment disorders (see Chapter 24). Therapeutic The Parietal Lobe
approaches to spasticity focus on manipulating Touch, pain, vibration, proprioception (abil-
neurotransmitters to reduce tone. For example, ity to sense the position, location, orientation
the drug baclofen, which decreases spasticity by and movement of body parts), and temperature
increasing the activity of gamma-amino butyric sensation are all processed within the parietal
acid (GABA), an inhibitory neurotransmitter, lobe. In addition, the parietal lobe contrib-
has been administered into the spinal fluid using utes to the integration of other stimuli, pro-
an implantable pump in individuals with cerebral moting a “whole” impression from various
palsy (Tasseel Ponche et al., 2010; Tilton, 2009; sensory inputs. The primary sensory cortex,
see Chapter 24). Damage to the motor cortex can which receives information from the skin and
also lead to seizures that begin as focal twitching membranes of the body and face, is located in
and spread to involve large muscle groups (Jack- the somatosensory area of the brain. Via the
sonian epilepsy; see Chapter 27). thalamus, this area receives fibers that convey
Figure 12.3. An adult neuropathological model of language. Sounds are received in Wernicke’s area and passed on to Broca’s
area via nerve fibers of the arcuate fasciculus. Expressive language is formed here, and the motor cortex is then stimulated to
produce speech.
touch and proprioception sensations from the In humans, the amygdala is associated with
opposite side of the body. Irritation of this area emotional and social functions. Recent use of
(e.g., by a stroke) may produce paresthesias functional magnetic resonance imaging (fMRI)
(numbness with a pins-and-needles sensation) has demonstrated that the human brain is
of the opposite side of the body. A destructive equipped with specialized circuits for discrimi-
lesion (e.g., a tumor or hemorrhage) in this area nating facial emotions. In particular, the crucial
impairs sensation, such as difficulty localizing involvement of the amygdala in emotional face
painful stimuli or measuring their intensity. processing has been demonstrated by a large
Although the primary visual cortex is else- number of studies comparing patients with
where (in the occipital lobe), some higher levels damaged amygdala and normal subjects (Dami-
of visual processing take place in the parietal ano et al., 2011). Amygdala dysfunction has also
lobe. Some evidence indicates that the visual- been strongly implicated in the social deficits of
perceptual problems experienced by children ASD as it is involved in the ability to read and
with learning disabilities and the difficulties in relate to others’ emotions.
performing fine motor tasks found in children Recent evidence suggests that several aspects
with ADHD may be related to parietal region of face processing are impaired in patients with
abnormalities (Cubillo et al., 2010; Vaidya & autism (Damiano et al., 2011). The most repro-
Stollstorff, 2008). ducible features include abnormal patterns of
gaze processing, memory for facial identity, and
The Temporal Lobe recognition of the emotional content of facial
expressions. Research studying face processing
The temporal lobe is primarily involved in in autism focuses on abnormalities in a specific
communication and sensation. The dominant network of brain regions that are implicated
hemisphere (the left side in more than 90% in social cognition and face processing. These
of people) is responsible for comprehending include the superior temporal sulcus (located
speech as well as contributing to the memory in the temporal lobe), which plays a role in
of auditory and visual experiences (Gaillard et processing gaze and facial movements, and
al., 2011; Vazquez & Mayola, 2008). It receives the fusiform face area (located on the ventral
input from each ear, with point-to-point pro- surface of the temporal lobe). It is not known
jection of the cochlea (the spiral-shaped cavity how alterations in developmental processes and
of the inner ear that resembles a snail shell and the role of experience interact during normal
contains nerve endings essential for hearing) development and in autism to modify and influ-
upon the acoustic area of the temporal lobe. ence this network.
Wernicke’s area, the receptive language center, Temporal lobe dysfunction can contribute
is found in the superior temporal gyrus. As with to a number of disorders; the two most com-
Broca’s area, it is most commonly found on the mon are receptive aphasia and complex partial
left side but its location can vary (Gaillard et seizures (Rosenberger et al., 2009). In recep-
al., 2007). tive aphasia, the temporal lobe may have been
Within the base of each temporal lobe rests damaged by a tumor, vascular insufficiency, or
two structures, the hippocampus and amyg- trauma (Siegal & Varley, 2006). The individual
dala, which serve special cognitive functions. is unable to understand spoken words but is able
The hippocampus plays an important role in to speak, frequently in an unintelligible fashion
memory and allows for the rapid learning of (see Chapter 20). Complex partial seizures also
new information. The amygdala is involved in arise in the temporal lobe. Before the seizure
sensory processing and emotions and is part of begins, the individual may experience a déjà vu,
the general-purpose “fight or flight” defense- or flashback, phenomenon, caused by stimula-
response control system. tion of this brain area. The person may also
Both the amygdala and hippocampus show have visual hallucinations, hear bizarre sounds,
structural abnormalities in autism, with the or smell unpleasant aromas, all of which ema-
degree of abnormality linked to the severity of nate from the temporal lobe (see Chapter 27).
impairment (Dziobek et al., 2010; Kleinhans et Treatment of refractory complex partial sei-
al., 2010). It is unclear if alterations in the hip- zures may involve surgical removal of the seizure
pocampus are a cause or an effect of the disor- focus (McTague & Appleton, 2011). This surgery
der’s symptomatology. Studies in both animals has been shown in adults to be superior to long-
and humans suggest that the hippocampus can term anti-epileptic drug use in terms of seizure
undergo dynamic changes as a result of experi- control and quality of life. Although adults who
ence and behavior (Insausti et al., 2010). undergo this neurosurgical procedure on the left
side of the brain often sustain some language or the occipital region may cause cortical visual
memory loss, children appear less likely to expe- impairment (cortical blindness; Ospina, 2009).
rience this complication. This suggests that a In this condition, despite a normal visual appa-
child’s brain is more flexible than an adult’s, such ratus and pathway, the occipital lobe does not
that the nondominant hemisphere can take over receive the image, and the person is function-
some of the language functions of the damaged ally blind (see Chapter 11).
dominant area. In fact, children as old as 6 have
undergone total dominant hemispherectoma Interconnections
(removal of the left hemisphere for intractable The white matter of the adult cerebral hemi-
generalized seizures with a left-sided focus) and spheres contains nerve fibers of many sizes that
have been able to recover speech function, pre- are myelinated (sheathed by an insulating layer
sumably by incorporating other cortical locations that increases the speed at which impulses are
in a new functional role (Johnston, 2009; Lieg- conducted). Some of these fibers serve to con-
eois et al., 2008, 2010; Limbricht et al., 2009). nect various regions of the brain. The most
This is known as plasticity (Kuhl & Rivera-Gax- important of these interconnections is the cor-
iola, 2008). With hemispherectomy, the degree of pus callosum, noted above (Figure 12.1A).
language recovery varies according to the under- A second type of interconnection is formed
lying cause of the seizure disorder (Mbwana et al., by projection fibers, which connect the cerebral
2009; van Schooneveld et al., 2011). cortex with lower portions of the brain or spinal
In the temporal lobe, the primary auditory cord. As an example, the internal capsule is a
cortex receives input from both ears by way of collection of fibers that project from the cor-
the cochlear nerves via multiple synapses in the tex to the spinal cord; nerve impulses carried by
brainstem. Irritation of this cortex may cause these fibers control distant muscles. Destructive
a buzzing or roaring sensation. Because of the lesions such as tumors or strokes may compress
bilateral representation, unilateral damage does or otherwise compromise the internal capsule
not result in deafness but may result in mild and the pyramidal (motor) tract it contains.
hearing loss. Bilateral lesions can result in com- This will result in hemiplegia (spasticity and
plete hearing loss. weakness on the opposite side of the body).
The Occipital Lobe Finally, association fibers connect the
various parts of the cerebral hemisphere. Short
The primary visual receptive cortex is located association fibers, or U fibers, connect adjacent
in the occipital lobe. The right occipital lobe gyri. The fibers which are just beneath the cor-
receives impulses from the right half of each tex are called subcortical fibers while those located
retina (the nerve layer that lines the back of in the deeper white matter are called intracorti-
the eye, senses light, and creates impulses that cal fibers. Long association fibers connect more
travel through the optic nerve to the brain). widely separated areas.
This creates the left visual field, whereas the left
visual cortex receives impulses from the left half
of each retina (and creates the right visual field).
The Basal Ganglia and Thalamus
The upper portion of this cortical area repre- Deep beneath the cortical surface resides the
sents the upper half of each retina (the lower diencephalon (Figure 12.1A), which consists
visual field), whereas the lower portion rep- of the thalamus and hypothalamus. Adja-
resents the lower half (the upper visual field). cent to the diencephalon are the basal ganglia
Irritation of this visual cortex can produce such and related structures. In humans, this primi-
visual hallucinations as flashes of light, rain- tive part of the brain modulates instructions
bows, brilliant stars, or bright lines. Destructive from the motor cortex in directing voluntary
lesions can cause defects in the visual fields on movements (Antonello et al., 2009; Waxman,
the opposite side, without loss of central vision. 2009). In lower vertebrates it directly controls
Visual stimuli are first interpreted in the motor activity. Anatomically, the basal ganglia
visual-receptive area, then processed further include the caudate nucleus and the puta-
in an adjacent part of the occipital lobe, before men (together called the corpus striatum),
being passed on to the temporal and parietal the globus pallidus, and the other gray matter
lobes. Here the identity of a viewed object and areas at the base of the forebrain. Together, the
its location in space are further determined. putamen and the globus pallidus form the len-
In both the temporal and parietal lobes, the tiform nucleus. The caudate nucleus is sepa-
image is linked to what is heard and felt so that rated from the lentiform nucleus and thalamus
interpretations can be made. Severe damage to by the internal capsule. Functionally, these
collections of neurons, together with their con- been found to result in abnormal excitation
nections and neurotransmitters, form an associ- that may be related to a variety of neuropsy-
ated motor system. chiatric and behavioral disorders (Walsh et
Damage to the basal ganglia produces vari- al., 2010). Recent neuroimaging studies have
ous movement disorders. Although voluntary demonstrated that injury to thalamic resting
movement is still possible, involuntary jerk- state networks correlates with reduced perfor-
ing or twisting, referred to as choreoatheto- mance on neurocognitive testing (Walsh et al.,
sis, may also occur. Alternatively, individuals 2010). A BMRI has already been successfully
may experience rigidity or dystonic postur- utilized in detecting alterations in this network
ing (involuntary contraction of muscles, forc- in individuals with ADHD, depression, schizo-
ing limbs into abnormal, sometimes painful phrenia, and autism (Paakkia et al., 2010). Since
postures), manifestations which can be seen in measures assessing resting-state brain activity
children with dyskinetic cerebral palsy (see can reveal cognitive disorders at an early stage,
Chapter 24). this is an exciting new area of research. Coupled
Immediately adjacent to the basal ganglia with genetic analysis, it may reveal insight into
is the thalamus, through which all sensory input earliest manifestations of ID or autism.
to the cortex must first pass, and which consti-
tutes a gateway or relay station for transmission The Brainstem
of information within the brain and across net- In contrast to the cerebral hemispheres, which
works and pathways. It also is the seat of normal control voluntary actions, the brainstem con-
brain rhythms that are inhibitory and modu- trols more reflexive and involuntary activities.
late control of movement (Llinás et al., 1999). It is comprised of three distinct areas (midbrain,
Damage to the thalamus may cause movement pons, and medulla) and connects the cerebral
disorders. The thalamus is also thought to be hemispheres to the spinal cord (Figure 12.4).
part of a neuronal network concerned with cog- Within it are the cranial nerves that control
nitive function, especially language. functions such as vision, hearing, swallowing,
and articulation (Saito, 2009). These cranial
Thalamocortical Connectivity nerves also affect facial expression, eye and
Injury to the thalamocortical pathways (con- tongue movement, salivation, and even breath-
necting the thalamus to the cortex) have also ing. In addition to the cranial nerve nuclei, the
Figure 12.4. The three regions of the brainstem are shown: midbrain, pons, and medulla. The place-
ment and function of 11 of the 12 cranial nerves are illustrated. (The first cranial nerve [smell] is not shown.
It lies in front of the second cranial nerve, below the frontal lobe.) Note that the pyramidal tract runs from
the cortex (not shown) into the brainstem. The pyramidal fibers cross over in the medulla. Thus, the right
hemisphere controls left-side movement, and the left hemisphere controls right-side movement.
brainstem is composed of a vast array of fiber timing (Ghajar et al., 2009; Ivry et al., 2000),
tracts relaying messages into and out of the sequencing, and learning associative relation-
brain. The corticospinal tract provides for the ships between elements (Molinari & Leggio,
passage of neural impulses from the cortex to 2007; Timmann et al 2010). This suggests that
the spinal cord. Conversely there are tracts the cerebellum is important both for extracting
bringing sensory information to the cortex via relevant information from the environment and
the thalamus. Therefore, any abnormality in also for acquiring procedures related to that
this region affects function in distant locations. information. These ideas support the theory
Children with cerebral palsy may have damage that the cerebellum is crucial to the formation
to the brainstem or to pathways that end in the of internal models, which may apply to both
brainstem. This damage might explain the high movement and cognitive functions (Ito et al.,
incidence of excessive salivation, swallowing 2008).
problems, strabismus, and speech disorders in
these children (see Chapter 24). The Spinal Cord
The spinal cord transmits motor and sensory
The Cerebellum messages between the brain and the rest of
The cerebellum (Figure 12.1A) resides in back the body. In addition to permitting voluntary
of the brain stem and immediately below the movement, the spinal cord acts to provide pro-
cerebral hemispheres. It coordinates voluntary tective reflex arcs in both the upper and lower
motor activity. Its principal role is to dampen extremities, such as the deep tendon reflex
skeletal muscular activity, thus enabling smooth elicited when the knee is tapped. The spinal
transition between activating agonist muscles cord is an elongated, cylindrical mass of nerve
(that work together) while inhibiting their tissue that is continuous with the brainstem
counterpart antagonist muscles. Normal mus- at its upper end and occupies the upper two
cle coordination requires that cerebellar func- thirds of the adult spinal canal within the ver-
tions be integrated with those of the cerebral tebral column (Figure 12.5). It widens later-
hemispheres and the basal ganglia. Although ally in the neck and the lower back regions.
voluntary movement can occur without the These enlargements correspond to the origins
cerebellum, such movements are ataxic, that is, of the nerves of the upper and lower extremi-
erratic and uncoordinated. An ataxic gait may ties. The nerves of the brachial plexus origi-
be seen with cerebellar tumors, progressive nate at the cervical enlargement of the spinal
neurological disorders (e.g., ataxia telangiecta- cord and control arm movement; the nerves of
sia), inebriation, or as a side effect of medica- the lumbosacral plexus arise from the lumbar
tion (Maria, 2008; Swaiman et al., 2006). enlargement of the spinal cord and control
The cerebellum may also influence cog- leg movement. Injury to a newborn’s brachial
nitive function through interconnections with plexus may occur during a difficult vaginal
the prefrontal cortex (Bolduc & Limperopou- delivery, resulting in weakness of the upper
los, 2009; Ten Donkelaar & Lammens, 2009). extremity (Abzug & Kozin, 2010).
It has been implicated in deficits seen in ASD. The spinal cord is divided into approxi-
fMRI reveals cerebellar activation during a vari- mately 30 segments—8 cervical (neck), 12 tho-
ety of cognitive tasks, including those related to racic (chest), 5 lumbar (lower back), 5 sacral
language, visual–spatial abilities, and executive (pelvic), and a few small coccygeal (tailbone)
function that includes working memory. Fur- segments—that correspond to attachments of
thermore, resting-state functional connectivity groups of nerve roots. Individual segments vary
data demonstrate that the cerebellum is part of in length. They are about twice as long in the
cognitive networks that include the prefron- mid-thoracic region as in the cervical or upper
tal and parietal association cortices (Ito et al., lumbar area.
2008; Leiner et al., 1996). The clinical cerebel- There are no sharp boundaries between
lar cognitive affective syndrome (Schmahmann, segments within the cord itself. Each segment
et al., 1998) occurring in patients with cerebellar contributes four roots: a ventral (front) and
lesions provides further evidence of cerebellar dorsal (back) root arising from the left half and
involvement in cognitive functions. The syn- a similar pair of roots arising from the right half.
drome causes deficits in spatial processing, work- Each root is made up of many individual root-
ing memory, language, and emotional ability. lets. The dorsal nerve roots allow sensory input
A number of theories have been proposed to ascend to the brainstem, whereas the ventral
regarding the specific contribution the cer- roots deliver motor input from the brainstem to
ebellum provides to neural processes, including the appropriate muscle.
Figure 12.5. The spinal column. The spinal cord extends from the neck to the lower back. It is pro-
tected by the bony vertebrae that form the spinal column. The enlargement to the right shows a sec-
tion of the cord taken from the upper back region. Note the meninges (the dura, arachnoid, and pia
mater) surrounding the cord and the peripheral nerve on its way to a muscle. This nerve contains both
motor and sensory components (roots). The spinal cord, like the brain, has both gray and white matter.
The gray matter consists of various nerve cells, the most important of which are the anterior horn cells.
These are destroyed in polio. The white matter contains nerve fibers wrapped in myelin, which gives
the cord its glistening appearance.
If the spinal cord is damaged (e.g., due to as well as to remove excessive hormones and
trauma or a congenital malformation such as neurotransmitters. CSF may also serve as a
a myelomeningocele; see Chapter 25), mes- “relief valve,” adjusting its volume when there
sages to and from the brain are short-circuited is an increase in intracranial pressure. Further-
below the area of abnormality. The result is a more, its hydrodynamic properties no doubt
loss (either partial or complete) of sensation and influence the physical attributes of the brain.
movement in the affected limbs. The paralysis, Approximately a pint of CSF is produced
which is initially flaccid but ultimately becomes each day by the choroid plexus, a collection
spastic, may involve the legs (paraplegia) or all of blood vessels in the lining of the brain ven-
four extremities (quadriplegia), depending on tricles. This fluid moves throughout the lateral
the level of damage. and third ventricles and communicates with
the fourth ventricle via the aqueduct of Sylvius
Cerebrospinal Fluid (Figure 12.6). At the level of the fourth ven-
and Hydrodynamic Balance tricle, the CSF exits to circulate over the sur-
face of the brain as well as the spinal cord in the
Long considered simply an aqueous environ- subarachnoid space. Absorption of CSF occurs
ment for the suspension of the brain, cerebro- at the arachnoid granulations over the superior
spinal fluid (CSF) is now known to perform surface of the brain. These granulations act as
many other functions. In addition to physically one-way valves to allow CSF to move into the
supporting the neural elements and serving to blood stream.
buffer the brain and spinal cord from excessive Should an imbalance develop between CSF
motion, CSF acts to provide nutritional support production and absorption, hydrocephalus
Figure 12.6. The ventricular system of the brain. The major parts of the ventricular system are
shown (top). The flow of cerebrospinal fluid (CSF) is shown (bottom). The fluid is produced by the
choroid plexus in the roof of the lateral and third ventricles. Its primary route is through the aque-
duct of Sylvius, into the fourth ventricle, and then into the spinal column, where it is absorbed. A
secondary route is around the surface of the brain. A blockage, most commonly of the aqueduct of
Sylvius, leads to hydrocephalus. (Lower illustrations from Milhorat, T.H. [1972]. Hydrocephalus and
the cerebrospinal fluid. Philadelphia, PA: Lippincott Williams & Wilkins. http://www.lww.com Copy-
right © 1972, The Williams & Wilkins Co., Baltimore, MD; adapted by permission.)
may ensue (Figure 12.7). This usually congeni- When fluid builds up inside the skull of an
tal condition involves an abnormal accumula- infant, the sutures (the joints connecting the
tion of fluid in the cerebral ventricles, causing bones of the skull) expand and dissipate the
skull enlargement and brain compression. It increased pressure at the expense of an increase
can be caused by an obstruction of CSF flow in head circumference. This may present as a
within the ventricular system (frequently at the bulging anterior fontanelle (“soft spot”). The
aqueduct of Sylvius) or at the exit of the ven- same situation in an older child whose sutures
tricular system (at the foramina of Luschka and have closed, however, may quickly lead to
Magendie). This is known as a noncommuni- headache, vomiting, lethargy, and focal neu-
cating hydrocephalus. In contrast, a communi- rological changes. This buildup of fluid can be
cating hydrocephalus is caused by malfunction life-threatening at any age and is considered a
at the level of the arachnoid granulations. In medical emergency.
addition to inadequate absorption, it is also When hydrocephalus occurs, it is neces-
possible (though rare) to have an oversupply of sary to restore the balance between produc-
CSF, as seen with tumors of the choroid plexus. tion and absorption of CSF, a treatment often
This excess may overwhelm the ability of the accomplished via a shunting procedure that
arachnoid granulations to absorb the fluid. results in long-term drainage of CSF. The
Figure 12.7. Normal magnetic resonance imaging (MRI) scan (left) and com-
puted tomography (CT) scan showing hydrocephalus (right). In the image to the
right, note the rounded appearance of the frontal horns (top) as well as the dif-
ferentially enlarged occipital horns (bottom). This is known as culpocephaly and
is frequently seen in individuals with spina bifida.
shunt’s objective is to bypass the CSF obstruc- to distant muscles and sensory organs. These
tion, whether at the level of the arachnoid gran- nerves can have both motor and sensory fibers
ulations or within the ventricular system. This that run in opposite directions. Motor, or effer-
usually involves diverting CSF from the head ent, fibers transmit impulses from the brain to
to another site, preferably the abdomen. The initiate movement, while sensory, or afferent,
complication rate for this surgery is low, and the fibers carry signals from muscles, skin, and
long-term outcome is reasonable good. Once joints back to the brain. Sensory fibers convey
in place, however, numerous obstacles remain information related to the position of a joint
in maintaining a working shunt and avoiding or the tone of a muscle following movement.
infection. Many children require shunt revisions Hyperexcitability of sensory neurons in the
as a result of infection or because obstructions child with cerebral palsy contributes to spas-
develop within the shunt. Despite present-day ticity. There are also a number of hereditary
imperfections, managing hydrocephalus has neuropathies that interfere with the peripheral
been simplified and often allows for a near typi- nervous system (Botez & Herrmann, 2010;
cal lifestyle. Schenone et al., 2011).
In children with noncommunicating The regeneration capacity of the periph-
hydrocephalus, either congenital (e.g., aque- eral nervous system differs substantially from
ductal stenosis) or acquired (e.g., secondary to a that of the CNS. Although the CNS is now
tumor), there is a surgical alternative to shunt- considered capable of limited regeneration, the
ing. This procedure (endoscopic third ventric- peripheral nervous system can be repaired more
ulostomy) involves perforating the floor of the easily. This ability to promote the regrowth of
third ventricle to create a new outflow route for peripheral nerves is responsible for the success
the CSF, thus bypassing the obstruction com- seen in surgical reconstruction for brachial
pletely intracranially (Sandberg, 2008). Endo- plexus palsy. The brachial plexus is a network
scopic third ventriculostomy has the benefit of of nerves that conducts signals from the spine
avoiding implants, but is not feasible in all indi- to the shoulder, arm, and hand. Brachial plexus
viduals with hydrocephalus. In addition, there palsy is caused by damage to those nerves.
is a small but serious risk of injury to nearby Symptoms include a limp or paralyzed arm; lack
vascular and neural structures. of muscle control in the arm, hand, or wrist; and
a lack of feeling or sensation in the arm or hand.
THE PERIPHERAL Meaningful recovery of neurological function is
seen in 60%–90% of young children undergo-
NERVOUS SYSTEM
ing these procedures (Abzug & Kozin, 2010).
The peripheral nerves allow neural impulses The somatic nervous system (SNS) is the
to move from the CNS (brain and spinal cord) part of the peripheral nervous system that is
associated with the voluntary control of body response. When a person feels threatened,
movements via skeletal muscles, and with sen- physically or psychologically, several physiolog-
sory reception of touch, hearing, and sight. The ical changes take place simultaneously. Diges-
SNS consists of efferent nerves responsible for tive system functions are suspended so that
stimulating muscle contraction, including all blood can be diverted to more important areas
the neurons connected with skeletal muscles, for actions involved in “fight or flight,” such as
skin, and sense organs. Complex coordination the brain and heart. Heart rate and blood pres-
between the motor and sensory system is neces- sure increase, and the air passages of the lungs
sary to ensure normal muscle tone. An imbal- expand in size. All of these changes prepare for
ance can lead to either increased or decreased a quick reaction to an emergency.
tone. Direct injury to the SNS will affect vol- Although the autonomic nervous system
untary as well as reflex activities of the involved works involuntarily in maintaining homeosta-
muscle and will cause flaccid weakness. This is sis (metabolic equilibrium of the body), volun-
in contrast to a CNS motor injury which results tary adjustments come from the cerebral cortex
in increased tone in the form of spasticity. to modulate these effects. The development of
Involuntary activities of the cardiovascu- bowel and bladder control is the best example
lar, digestive, endocrine, urinary, respiratory, of this. In an infant, when the bladder or rec-
and reproductive systems are controlled by tum fills, the outlet muscles release automati-
the autonomic nervous system. This control cally and the infant urinates or defecates with
begins in the diencephalon and terminates at no conscious control. Between the ages of 12
the end organ (e.g., stomach, bladder, lungs; and 18 months, however, the child gradually
Figure 12.8). In contrast to the graded response gains control over these functions. The cere-
of voluntary movements, the autonomic ner- bral cortex begins to send inhibitory signals to
vous system involves an on/off type of control. reduce the normal autonomic activity. As any
The best example of this is the “fight or flight” parent knows only too well, this coordination
Eyes dilate
Bronchioles of
lungs expand
Heart rate increases
Digestion is
suspended
Figure 12.8. Autonomic nervous system. These nerves control such involuntary motor activities as
breathing, heart rate, and digestion. This system is involved in “fight or flight” reactions.
requires months of fine-tuning to master con- As the brain begins to organize by 5 weeks’
sistent control. Individuals who have sustained gestation (a process that continues into early
damage to either the corticospinal tracts or the childhood) the axons and dendrites grow and
spinal cord are less able to inhibit the auto- differentiate. The major developmental fea-
nomic nervous system in this way. This explains tures of this organizational period include 1) the
the great difficulty that children with cerebral establishment and differentiation of neurons;
palsy, myelomeningocele, or traumatic brain 2) the attainment of proper alignment, orien-
injury (see Chapter 26) may have in controlling tation, and layering of cortical neurons; 3) the
bowel and bladder function. elaboration of dendrites and axons; 4) the estab-
lishment of synaptic contacts; and 5) cell death
and selective elimination of neuronal processes
THE MICROSCOPIC and synapses.
ARCHITECTURE OF THE BRAIN
Establishment and differentiation
The Neuron As the neurons develop, growing axons are able
Neurons are similar to other cells in that they have to recognize various molecules that are on the
a cell body consisting of a nucleus and cytoplasm. surface of other axons and cell bodies. They
Unlike other cells, however, they have a long pro- can use these molecules as cues to navigate the
cess called an axon, which extends from the cell circuitous pathway to their final destination.
body, and many short jutting processes called These axons need to “perceive” this guidance
dendrites (Figure 12.9). The axon carries impulses information, distinguishing the correct path-
away from the nerve cell body, sometimes for a way from the incorrect one. In addition, axons
distance greater than a meter. Dendrites receive need to move forward (sometimes rapidly),
impulses from other neurons and carry them a make turns, avoid obstacles, and stop when the
short distance toward the cell body. The size and target is reached. These guidance functions—
shape of dendrites may change with neuronal sensory, motor, and integrative—are contained
activity, suggesting that these changes may repre- within the specialized tip of a growing axon, the
sent the anatomical basis for memory. growth cone (Squire et al., 2008).
Figure 12.9. Illustration of a nerve cell (neuron), showing its component elements. The enlargements show the minute den-
dritic spines that increase the number of synapses or junctures among nerve cells. Note the diminished size and number of
dendritic spines in a child with Down syndrome.
Alignment, Orientation, and surface area of the dendrites, permitting more

Layering of Cortical Neurons elaborate communication between the neurons.
During neuronal differentiation, the primi- In fact, increased dendritic outgrowth has been
tive neurons begin to express their distinctive associated with enhanced memory. In contrast,
physical and biochemical features. This pro- deficient development of dendritic arborization
cess, called arborization, is much like the growth has been observed in individuals with cognitive
of a tree from a sapling. It even involves prun- impairment, most notably in Down syndrome
ing, such that some new connections (synapses) (Huttenlocher, 1991).
remain established while others disappear. For
Synapses
example, in the visual cortex, synapses form
most rapidly between 2 and 4 months after Proper function of the nervous system requires
term, a critical time for the development of that two linkages form: 1) the needed connec-
visual function. Maximum synaptic density is tions between an axon from one neuron and
attained at 8 months of age, when the elimina- the dendrite from a second neuron, and 2) the
tion of synapses begins. By 11 months of age, communication between these two neurons
approximately 40% of synapses have been lost once the connection is established. The point
(Volpe, 2008). of contact between two neurons is called a syn-
apse (Figure 12.10).
Dendrites and Axons
Cell Death and Selective Elimination
As axons grow toward their respective dendritic
of Neuronal Processes and Synapses
targets, the dendrites respond by increasing the
number of spines, or projections, along their Synapses can be either chemical or electri-
surface (Figure 12.10). The spines increase the cal, with distinct characteristics for each type.
Figure 12.10. Central nervous system (CNS) synapse. The enlargement shows the abutting of an axon against a dendritic
spine. The space separating the two is the synaptic cleft. Neurotransmitter bundles are released into the cleft from vesicles in the
presynaptic membrane. These permit transmission of an impulse across the juncture.
In electrical synapses, there is a short distance excess neurotransmitters within the synapse are
between the two neurons and there is a com- then removed either by reuptake or by enzy-
munication between the cytoplasm of the cells. matic breakdown. The function of the CNS
Because of this, there is very little delay as an can be altered by manipulating any of the steps
electric current passes from one neuron to the in chemical transmission. Many commonly
next, and the transmission is usually bidirec- used medications for depression and anxiety
tional. belong to a group of prescription drugs known
In contrast, chemical synapses have a larger as selective serotonin reuptake inhibitors
gap between the two neurons and no direct (SSRIs). Examples include fluoxetine (Prozac)
communication of the cytoplasm. In order to and sertraline (Zoloft). These medications
bridge the gap between the two cells, small block the reuptake of serotonin after its release
vesicles (small bladder-like cavities) contain- in the synaptic cleft, thereby increasing the
ing specific chemicals (neurotransmitters) are availability and the duration of serotonin action
released from the axon of one neuron. These in specific brain regions. Similarly atomoxetine
chemicals travel the distance between the cells (Strattera) is a selective norepinephrine inhibi-
to reach the receptors for that particular neu- tor and has been found to be effective in treat-
rotransmitter on the dendrite of the second ing ADHD.
neuron. The effect on the postsynaptic cell can Within the central, peripheral, and auto-
be either excitatory or inhibitory. Because of nomic nervous system there are a variety of
the process involved, there is a delay in trans- identified neurotransmitters. Table 12.1 pro-
mission and the signal is unidirectional. Within vides a simplified summary of the characteris-
a network, the two types of synapses work tics of some of the major neurotransmitters.
together to foster synchrony (Brodal, 2010).
Myelination
Neurotransmitters The neurons and neuronal processes of the
Neurotransmitters are chemicals that are brain and spinal cord form two distinct regions
released by one cell to cause an effect on a sec- of the CNS, the gray matter and the white mat-
ond cell. They differ from hormones in the scale ter. The gray matter contains the nerve cell
of their action. While hormones are released bodies, appearing grayish in color. The white
into the bloodstream and can affect cells distant matter is made up of axons sheathed with a pro-
from the originating cell, neurotransmitters are tective covering called myelin that promotes
released within the synapse and only affect cells the rapid conduction of nerve impulses. Dur-
that are in very close proximity. For a substance ing fetal life, most of the axons have no myelin
to be considered a neurotransmitter, it has to be coating. They gradually develop this glistening
synthesized within and released from the pre- casing after birth. Effective myelination is nec-
synaptic neuron and has to exert a defined effect essary for the development of voluntary gross
on the postsynaptic neuron. and fine motor movement and the suppression
With chemical transmission at a synapse, of primitive reflexes (see Chapter 24). The
the first step is the synthesis of the neurotrans- majority of myelination is completed by 18
mitter within the presynaptic neuron. Many of months of age, around the time a child can run
these chemicals share a common precursor. For (Volpe, 2008); however, myelination continues
example, dopamine and norepinephrine are both to a lesser degree throughout adolescence and
synthesized from the amino acid tyrosine. Each into early adulthood. Deficient myelin forma-
neuron is specialized to use one neurotrans- tion has been found in a number of conditions
mitter. After synthesis, the neurotransmitters including prematurity, congenital hypothyroid-
are packaged and stored in vesicles within the ism, and malnutrition (van der Voorn et al.,
axon to await release. When a depolarizing 2006).
current (an electrical current causing a change
in cell membrane voltage) passes through the TECHNIQUES FOR EVALUATING
axon, the vesicles spill their contents into the
synapse. The neurotransmitters then travel the
THE CENTRAL NERVOUS SYSTEM
distance between the two neurons. The den-
drite of the postsynaptic neuron has receptors Computed Tomography
that are specific for the released neurotransmit- In the 1990s, considerable advances in neuro-
ter. When the receptors are activated, there can radiology provided more definitive findings
be an excitatory or inhibitory response. The regarding the living brain (Barkovich, 2005;
Table 12.1. Characteristics of some of the major neurotransmitters

Neurotransmitter Location Function Associated disorder
Acetylcholine Nucleus basalis Stimulates muscle Myasthenia gravis (loss of
Neuromuscular junction contraction at the neu- receptors)
romuscular junction Botulism (impaired
Autonomic nervous
system release)
Dopamine Substantia nigra Initiates and controls Parkinson’s disease (defi-
movement ciency)
Schizophrenia (excess)
Norepinephrine Locus ceruleus Maintains vigilance and Alzheimer’s disease
Sympathetic nervous responsiveness
system
Serotonin Raphe nuclei Involved in the sleep– Depression (deficiency)
wake cycle, emotions,
food intake, thermo-
regulation, and sexual
behavior
Histamine Hypothalamus Regulates hormones
GABA Inhibitory interneurons Principal inhibitory Epilepsy (deficiency)
throughout the brain neurotransmitter
and spinal cord
Glycine Inhibitory interneurons in Inhibits antagonist Nonketotic hyperglycin-
the spinal cord muscles emia (excess)
Glutamate Excitatory neurons Principal excitatory Huntington disease
throughout the brain neurotransmitter (excess)
and spinal cord Acute brain injury (excess)
Source: Kandel, Schwartz, and Jessell (2000).
Key: GABA, gamma-aminobutyric acid.
Giedd et al., 2010; Lodygensky et al., 2010; infection or suspected tumor. Most infections
Vogel et al., 2010). High-speed computed and many (but not all) tumors will appear bright
tomography (CT) scans, which are produced with the addition of contrast, aiding in visual-
from multiple thin-cut x rays, became a routine ization of these lesions. Conversely, IV contrast
part of evaluating the child with hydrocephalus, typically does not aid in clinical scenarios such
trauma, craniofacial disorders, new-onset sei- as closed head injury or hydrocephalus. Caution
zures, and brain and skull tumors. The inher- should be used when administering contrast to
ent strength of CT resides in its excellent bone any child with dehydration or abnormal renal
definition. Three dimensional CT scans rou- function.
tinely provide sophisticated reconstruction of While CT is a powerful diagnostic tool,
complex skull-base disorders, and CT angiog- the associated radiation exposure is 100 times
raphy offers good resolution of blood vessels or higher than that from a typical chest x ray (Hall
flow abnormalities, with additional information & Brenner, 2008), a level of exposure that is par-
about the adjacent bony structures. Quick and ticularly relevant when treating children. Not
painless acquisition of images means that CT only are children more sensitive to radiation,
scans can often be obtained without needing to and thus at an increased risk from exposure, but
sedate young children, as opposed to magnetic they also will have a longer lifetime than adults
resonance imaging (MRI) scans, which take for any negative effects from exposure to mani-
longer to acquire, making sedation necessary. fest (Bulas et al., 2009). In addition to the risk
This also makes CT well-suited for emergency to the individual, one must consider the poten-
situations, which require rapid acquisition of tial population risk of increased cancer rates as
brain images (e.g., in seeking evidence of intra- use of CT becomes more common (Berrington
cranial hemorrhage after trauma). de González et al., 2009). While CT remains a
CT can be supplemented with intrave- mainstay in evaluating the child’s nervous sys-
nous (IV) contrast, which helps define areas tem, one must consider alternative methods of
of blood-brain barrier breakdown. Addition imaging when possible, such as magnetic reso-
of IV contrast is especially helpful in cases of nance imaging.
Magnetic Resonance Imagining white matter), determining the timing of the

MRI scanning has surpassed all other imaging insult (i.e., old neonatal stroke versus current
modalities for evaluating brain structure. It is stroke in a child with sickle cell disease), assess-
particularly useful in investigating developing the potential for reversibility, or following
mental abnormalities of the brain, in assessing up to see if a condition is static or progressive.
the causes of epilepsy (Abdelhalim & Alberico, Other findings on MRI may be so specific that
2009; Duncan, 2009; Freilich & Gaillard, 2010; they help to identify the definitive cause of
Gaillard et al., 2007), in identifying chronic ID in a child. An example would be the diag-
hemorrhage (Kidwell et al., 2004), and in visu- nosis of a major structural brain anomaly such
alizing brain tumors. as holoprosencephaly, lissencephaly, or a mal-
Over the last decade, improvements in formation of the cerebellum (Mochida, 2009;
MRI technology and science have allowed phy- Spalice et al., 2009; Verrotti et al., 2010; see
sicians to collect information not only about Appendix B). Applying the newer modalities of
alterations in structure, but also alteration in MRI that probe function, microstructure, and
function, brain metabolism, and microscopic metabolism can be used to assess brain injury
damage to the brain’s gray and white matter. at its earliest onset as well as provide a basis for
This is done by using special MRI software in following the course of the disease or gauging
the routine MRI scanner. These new sequences the effects of interventions (Giedd et al., 2010;
have been used clinically, as well as part of Verbruggen et al., 2009).
research studies to learn more about brain net- New discoveries and applications over the
works that underlie cognition and how different past decades include that of 1) fluid-attenuated
developmental disorders may be similar or dif- inversion recovery (FLAIR; see Figure 12.11)
ferent in terms of brain function. imaging, which allows much better analysis of
Children with intellectual disability (ID) disorders that affect the white matter (Hoising-
may have a structural cause for the underlying ton et al., 1998); 2) fMRI (see Figure 12.12),
deficit, which may be qualitative or quantita- which enables one to visualize brain activa-
tive, and if so can be measured by MRI. Some tion patterns while a patient performs a cogni-
findings may be non-specific, but nonetheless tive or motor task in the scanner (Guye et al
may be helpful in identifying a physiologic 2008; O’Shaughnessy et al., 2008); 3) diffusion
process (i.e., does it involve the gray matter or weighted imaging (DWI) and diffusion tensor
Figure 12.11. Imaging shows deceivingly normal study on routine T2 (left), but evidence of white matter lesions on FLAIR
(right).
systematic approach based on pattern recogni-

tion of brain involvement is particularly useful
in the analysis of brain MRI scans in patients
with ID due to inborn errors of metabolism (see
Chapter 19; Barkovich 2007; van der Knaap et
al., 2005).
Over the past two decades, fMRI has
emerged as a valuable tool for imaging the time
course of activity associated with neurocogni-
tive processes in the brain. This technology
has wide-ranging applications for both basic
research into brain function and for clinical
research into the neurophysiology of neuro-
logical and psychiatric illness (Christ et al.,
2010). fMRI detects minute changes in regional
blood flow and metabolism and can be useful in
localizing brain regions involved in such activi-
ties as reading, speaking, listening, and moving
(Berl et al., 2010; Sun et al., 2010). Differences
Figure 12.12. Activation map typical of an fMRI. In this fig- have been found in individuals with dyslexia
ure, the left motor strip is being activated in the area indi-
cated by the arrows. A task that elicits motor response would versus standard-achievement-level readers. In
be expected to produce such a motor response. In an indi- epilepsy, fMRI is useful in localizing language,
vidual who has motor impairment, this area may show less memory function, as well as seizure foci (Detre,
activation and other areas may activate in a compensatory
response. 2004) and may one day replace more invasive
testing of these functions.
imaging (DTI) to look at microscopic damage MRS is a versatile noninvasive technique
in white matter (Bennett et al., 2010); and 4) capable of producing information on a large
magnetic resonance spectroscopy (MRS), which number of brain chemicals (Pfeuffer et al.
enables a noninvasive biochemical examination 1999). This technology is widely available
of the brain (Ross et al., 1996; Figure 12.13). A and can be performed in the same session as
Figure 12.13. 1H MRS comparing a normal subject (gray) with a subject with OTCD (black). Peak difference can be seen,
specifically, higher glutamine (GLN) in OTCD, lower choline (CHO) in OTCD, and lower myoinositol (MI) in OTCD. (Key: OTCD,
ornithine transcarbamylase deficiency)
conventional MRI (Bizzi et al; 2008; Cecil et al., justification. One should always be mindful of
2006). MRS techniques complement conven- a child’s cumulative radiation exposure and use
tional and advanced imaging and are proving pediatric protocols that lower the radiation
useful in diagnosing, treating, and predicting dosages (Chawla et al., 2010).
progression. To date there are no clear guide-
lines for the use of MRS in childhood neuro- Electroencephalography
logical diseases, although the literature shows it
Whereas CT and MRI show the structure of
has contributed to diagnosis and management
the brain, and SPECT, PET, and fMRI show
(Cakmakci et al., 2009; Gropman, 2010; Pani-
its metabolic activity, there are additional tests
grahy et al., 2010; Xu et al., 2008).
that can be useful in assessing the function of
Spectroscopy investigations are per-
the brain. Electroencephalography (EEG) uti-
formed to study brain chemistry and can mea-
lizes scalp electrodes to measure intracranial
sure: 1) N-acetyl aspartate (NAA), a marker
electrical activity (see Chapter 27). This is a
of neuronal integrity; 2) creatine, an energy
noninvasive test that detects the summation
marker; 3) choline, a cell membrane com-
of neuronal discharges in the superficial lay-
ponent; 4) myoinositol, a small sugar that is
ers of the cerebral cortex. In epilepsy, EEG can
involved in signaling and cell volume; and
show a pattern that is indicative of epileptiform
5) lactate, which is elevated in conditions
(“seizure-like”) activity. Coupled with continu-
affecting energy metabolism. With special
ous video monitoring, EEG becomes a power-
software, the neurotransmitters glutamate and
ful tool to match seizure type with the location
glutamine also can be measured. Figure 12.13
of the seizure focus in the brain (Sullivan et al.,
demonstrates an MRS comparing a normal
2007). It can detect seizures that may not be
subject with one of the inborn errors of metab-
evident clinically and can show the effects of
olism, ornithine transcarbamylase (OCTD).
various treatments, both medical and surgical,
Single Photon Emission on seizure activity. EEG is also useful in evalu-
Computer Tomography and ating mental status changes associated with dif-
Positron Emission Tomography fuse neurological dysfunction (as might occur
in encephalitis or infection of the brain). The
Like fMRI, single photon emission computer background EEG is important as the frequency
tomography (SPECT) and positron emission (Hertz, Hz) of the waveforms is a key charac-
tomography (PET) are techniques that dem- teristic used to define normal or abnormal EEG
onstrate metabolically active regions in the rhythms. In certain situations, EEG waveforms
brain. A radioactive-labeled compound, most of a certain frequency for age and/or state of
commonly glucose, is injected into the blood- alertness may be viewed as abnormal because
stream and SPECT or PET is then used to they demonstrate irregularities in amplitude or
assess the compound’s selective uptake in vari- rhythmicity.
ous brain regions. Both have been used to diag-
nose strokes, tumors, and brain injury following Electromyography and
head trauma (Dubroff & Newberg, 2008; Kou
et al., 2010; Lewine et al., 2007; Suskauer &
Nerve Conduction Studies
Huisman, 2009), and to predict gross motor To this point, the discussion of techniques for
development in children with cerebral palsy evaluating the nervous system has focused on
(Yim et al., 2000). SPECT and PET have also evaluating the CNS. Although there is limited
been employed to evaluate seizure disorders imaging to assess the peripheral nervous sys-
prior to surgery (Jafari-Khouzani et al., 2011; tem (e.g., MRI to evaluate the brachial plexus),
Kim et al., 2010; Shore, 2008; Varghese et al., functional testing is readily available in the form
2009). Table 12.2 summarizes the advantages of electromyography (EMG) and nerve con-
and disadvantages of each of these different duction studies (NCS). These studies involve
imaging techniques. placement of needle electrodes at various points
As with CT, there is radiation expo- on the body to test motor and sensory function
sure associated with SPECT and PET scans, of the peripheral nerves. EMG and NCS can
which must be factored in when weighing the be used to define traumatic injury or peripheral
risks and benefits of these diagnostic studies. neuropathy and can demonstrate the afteref-
With regard to radiation the rule is to prac- fects of toxic exposure (Avaria et al., 2004; Pitt;
tice the ALARA principle (As Low As Rea- 2011). In addition, these studies can be a helpful
sonably Achievable) and only order PET or aid in surgical cases that involve dissection near
SPECT in children when there is solid clinical either sensory or motor pathways.
Table 12.2. Advantages and disadvantages of each neuroimaging technique

Imaging technique Advantages Disadvantages
Computed tomography (CT) High resolution of bony anatomy; Lower resolution of brain structures
quick and readily available; usu- compared to MRI
ally does not require sedation
Magnetic resonance imaging (MRI) Extremely high resolution of brain Takes longer to acquire images
structures; images obtained in compared with CT; often requires
multiple planes; no radiation sedation
exposure
Positron emission tomography Shows brain function in addition Limited availability at many centers
(PET)/single photon emission to structure by tracking the
computed tomography (SPECT) uptake of radioactive glucose
Functional MRI (fMRI) Shows function by detecting Requires significant patient cooper-
variation in regional blood flow; ation; not feasible for individuals
lends better structural resolution who are very young or who have
than PET/SPECT severe intellectual disability
SUMMARY comprehension during development. Brain Language,

114(2), 115–25.
The nervous system is composed of central and Berrington de González, A., Mahesh, M., Kim, K.P.,
peripheral elements. The CNS (the brain and Bhargavan, M., Lewis, R., Mettler, F., & Land, C.
(2009). Projected cancer risks from computed tomo-
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its function. Various techniques allow better Archives of Internal Medicine, 169, 2071–2077.
assessment of the brain for diagnosis of a broad Bizzi, A., Castelli, G., Bugiani, M., Barker, P.B., Her-
range of clinical pathology. As our understand- skovits, E.H., Danesi, U., …Uziel, G. (2008). Clas-
sification of childhood white matter disorders using
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proton MR spectroscopic imaging. American Journal
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will be forthcoming. Bolduc, M.E., & Limperopoulos, C. (2009). Neurode-
velopmental outcomes in children with cerebellar
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13 Muscles,
Bones, and Nerves
Peter B. Kang

■ Understand how the neuromuscular and musculoskeletal systems function and
are integrated
■ Recognize common signs and symptoms of neuromuscular and musculoskeletal
disorders
■ Be familiar with some of the most common neuromuscular and musculoskeletal
diseases of childhood and their treatments
■ ■ ■ CASE REPORT 4. What types of therapies would be applicable

to this case, regardless of the underlying
A 4-month-old female infant is brought in to be
diagnosis?
evaluated and treated for concerns of floppi-
ness and poor weight gain. She was born full-
term after an uncomplicated gestation, but her COMPONENTS OF THE
parents report that she feeds poorly and that NEUROMUSCULAR AND
milk sometimes pools in her mouth. During the MUSCULOSKELETAL SYSTEMS
examination, she has a weak cry and has trouble
lifting her head from the exam table. Her muscle The neuromuscular system is the neurologi-
tone seems diminished when she is picked up,
cal network that connects the brain and spinal
cord to the musculoskeletal system. It consists
both in vertical and prone positions.
of 1) the anterior horn cells (lower motor neu-
1. What should be the overall assessment of rons) in the spinal cord, 2) the peripheral nerves
this case? in the extremities, 3) the neuromuscular junc-
2. Does this infant appear to have a central tion (which joins the nerves and muscles),
nervous system or peripheral nervous sys-
and 4) the skeletal muscles (Figure 13.1). The
musculoskeletal system consists of the skeletal
tem disease? What features of the clinical
muscles, tendons, bones, joints, and ligaments.
presentation help sort this out? In order for a muscle to produce voluntary
3. What categories of disease merit the great- movement across a joint, an electrical signal
est concern? originates in the cortex of the brain (within an
213
214 Kang
dorsal root ganglion

• herpes zoster
• Friedreich’s ataxia
dorsal root
spinal nerve
(dorsal & ventral roots)
• disc disease
• tumor
ventral root
anterior horn
motor neuron plexus

• primary motor neuron diseases • tumor
progressive muscular atrophy • trauma
amyotrophic lateral sclerosis • plexopathy
Werdnig-Hoffman disease
• poliomyelitis
• tetanus
axon
myelin sheath
peripheral nerve
• metabolic, toxic, nutritional, idiopathic neuropathies
• arteritis
• hereditary neuropathies
• infectious, postinfectious, inflammatory neuropathies
(Guillain-Barré syndrome)
• entrapment and compression syndromes
• trauma
• Duchenne’s muscular dystrophy

• myotonic dystrophy
• limb-girdle muscular dystrophy
• congenital myopathies
• polymyositis/dermatomyositis
• endocrine dysfunction myopathies
• enzymatic myopathies
muscle neuromuscular junction
• myasthenia gravis
• botulism
Figure 13.1. The neuromuscular system. The central components of the nervous system include the brain and spinal cord.
Descending corticospinal pathways carry signals from the brain through the spinal cord to motor neurons in the anterior horns of
the spinal cord. The motor neurons are generally regarded as being the first segment of the peripheral nervous system. Signals
are transmitted from the motor neurons down the peripheral nerves, then across the neuromuscular junction to skeletal muscle.
These signals initiate muscle contraction, leading to movement of the musculoskeletal system. Sensory signals are transmitted
from the sensory nerves to the spinal cord, and then to the brain, which continuously integrates this information to monitor the
state of the environment and the neuromuscular and musculoskeletal systems.
Muscles, Bones, and Nerves 215
upper motor neuron), then passes through the SYMPTOMS AND SIGNS
spinal cord to an anterior horn cell whose axon OF NEUROMUSCULAR AND
extends down a peripheral nerve until the axon
MUSCULOSKELETAL DISORDERS
ends at a neuromuscular junction. The electri-
cal impulse jumps across the gap (synapse) at Respiratory and Cardiac Issues
this junction, using the neurotransmitter ace-
tylcholine. The acetylcholine binds to receptors In most cases, respiratory and cardiac issues
in the muscle fiber; these receptors generate a do not arise from neuromuscular or musculo-
new electrical signal and stimulate the muscle skeletal disorders. But in rare instances, they
to contract. The sarcomere is the basic con- may be early manifestations of such conditions.
tractile unit in the muscle fiber; it is composed Examples include late-onset Pompe disease (a
of a number of proteins that bind to each other genetic lysosomal storage disorder), in which
in a dynamic manner. As the musculoskeletal respiratory distress is an early symptom, and
system moves (e.g., during walking), signals are Becker muscular dystrophy, in which cardio-
sent to the brain through the sensory system, myopathy is sometimes the first sign of disease.
providing information about the body’s posi- Some neuromuscular disorders affect the respi-
tion in space. ratory muscles, resulting in an abnormal sleep
The main function of skeletal muscle is pattern or sleep apnea (brief periods of respi-
to contract by shortening, thereby causing the ratory arrest). These children may suffer from
limbs to move across joints. Agonist muscles daytime somnolence and often appear fatigued
reinforce each others’ movements, while antag- or easily distractible.
onist muscles oppose one another. For example,
when an individual flexes an arm at the elbow, Muscle Bulk, Tone, and Strength
the biceps contracts, as does the brachialis; Pseudohypertrophy (abnormal muscle enlarge-
the triceps, however, relaxes. If all these mus- ment), especially of the calves and in conjunc-
cles contracted simultaneously, the arm would tion with weakness, may be a sign of Duchenne
be held stiffly in an isometric contraction muscular dystrophy (DMD). Muscle atrophy is
(i.e., muscular contraction against resistance found in neuropathies such as Charcot-Marie-
in which the length of the muscle remains the Tooth disease (CMT), but may also be seen in
same). Thus, when the brain tells the arm to some myopathies and muscular dystrophies.
move, it generates contraction of some muscles It is important to differentiate between
and relaxation of others. tone abnormalities and strength abnormalities.
The bones of the skeleton form the body’s Tone is the muscle’s passive ability to respond to
internal scaffolding. They range in size from stretch, whereas strength represents the force
the ½-inch-long phalanges (bones of the fin- that the muscle exerts actively. Children can
ger) to the femur (thigh bone), which is roughly have hypertonia (high tone and an overreactive
18 inches long in adults. As growth takes place response to a normal stimulus) or hypotonia
and the bone is subject to different stresses, the (low tone, with a lesser response to a stimulus).
bone responds by changing its shape, a pro- Many neuromuscular or musculoskeletal disor-
cess called remodeling. These changes usually ders are linked to disturbances in tone. Hyper-
increase the tensile strength and stability of the tonia and spasticity are seen primarily in central
bone, making it less susceptible to fracture. On nervous system (CNS) disorders, which affect
average, a given portion of a child’s bone turns the upper motor neuron or its axons in the
over around once annually. In an adult, the brain and spine, whereas hypotonia can be seen
reshaping continues even though growth has not only in lesions of the CNS (upper motor
stopped. The average bone segment of an adult neuron), but also in peripheral nervous system
turns over about every 7 years. (lower motor neuron) involvement. In infants,
Together, the neuromuscular and muscu- preserved strength in the setting of hypotonia is
loskeletal systems are responsible for our ability usually associated with a central nervous system
to sit, stand, and move; impairments of these process, whereas weakness in conjunction with
systems are major causes of developmental dis- hypotonia is usually associated with a peripheral
ability in childhood. This chapter explores how nervous system process.
to recognize the signs and symptoms of neuro- Muscle weakness may be proximal (involv-
muscular and musculoskeletal disorders, and ing muscles or body segments closer to the cen-
how an integrated health care and school sys- ter of the body) or distal (involving muscles or
tem can improve the lives of children affected body segments farther from the center of the
by such disorders. body). Proximal muscle weakness affects the
216 Kang
shoulder and hip girdle muscles (often seen in designed to look for these physical findings to
myopathies, which are primary disorders of detect scoliosis as early as possible.
muscle); children with weak shoulder girdle
muscles have difficulty reaching objects on a Contractures and Gait Abnormalities
high shelf, climbing jungle gyms, or doing push- If a neuromuscular or musculoskeletal disorder
ups. Testing the ability of the child to grasp and prevents full range of motion around a joint
manipulate objects demonstrates selective con- for a prolonged period of time, a joint con-
trol, a skill necessary to operate hand controls; tracture (shortening of the soft tissue around
children with distal muscle weakness may thus a joint) can develop, resulting in a fixed loss of
have trouble holding a pen or pencil, finishing joint motion. In an ankle joint contracture, the
long writing activities on time, or using scissors. Achilles tendon shortens and the child walks on
Proximal or distal lower extremity weakness his or her toes. Toe-walking, limping, walking
often causes gait abnormalities (see following with a wide-based gait, or other gait abnormali-
sections). ties should prompt medical evaluation.
In an ambulatory child, observing the gait
Sensation pattern is a valuable part of the physical exami-
Sensory symptoms such as numbness, pares- nation. During normal gait, the head and trunk
thesias (skin sensations: e.g., burning, prick- should be level, with minimal sway from side
ling, itching, tingling), and pain may result to side. The child should be able to maintain
from disorders of the peripheral sensory nerves balance while standing on one leg and swing-
(e.g., peripheral neuropathies) or from CNS ing the opposite leg through. The leg that is
disorders. Sensory nerve fibers tell the brain swinging should clear the ground, and the foot
where the body is in space, so these children should not drag.
may have an ataxia, clumsy gait, or even feel Strong pelvic muscles are needed for the
unsteady in the dark, requiring visual input for child to rise from a seated position and to climb
balance. stairs. Children with hip girdle weakness often
need to pull on a handrail to walk up steps or to
Scoliosis, Kyphosis, and Lordosis push off with their hands in order to rise from
Scoliosis is a lateral curvature of the spinal a chair. To get up from the floor, such children
column; kyphosis is an excessive anterior (for- often use a Gowers maneuver: first they turn to
ward) curvature of the spine; and lordosis is an face the floor, then use their hands on the floor
excessive posterior (backward) curvature. Iso- to support part of their weight as they straighten
lated scoliosis in an otherwise healthy child or their knees, and finally they push their hands on
adolescent is usually not associated with a neu- their thighs to achieve an erect posture.
romuscular or musculoskeletal condition. Idio- Distal muscle weakness (often seen in
pathic scoliosis occurs frequently during the neuropathies, which are primary disorders of
adolescent growth spurt, especially in females. peripheral nerves) affects the hands and feet
However, scoliosis, kyphosis, lordosis, or a (i.e., distal extremities). These children may trip
combination of these may be complications of and fall frequently because they cannot lift their
numerous neuromuscular and musculoskeletal feet or toes when walking. They also may not
disorders. The appearance of these abnormali- be able to walk on their heels and may “slap”
ties in a younger child or of one of them in con- their feet while walking (a condition called foot
junction with other concerning findings should drop). Orthotic devices may stabilize distal leg
prompt careful evaluation. weakness and lessen the frequency and severity
Because spinal curves are best managed of falls.
before they become severe, the spine of a
child at greater risk (e.g., a child with menin- Joint Abnormalities
gomyelocele or muscular dystrophy) should Range of motion is passive, so the patient should
be examined regularly. Early clues suggesting be relaxed while the examiner moves the extremi-
scoliosis are unequal heights of the shoulders or ties. The upper extremities should be examined
a slanting of the waist. Also, as the ribs attach for range of motion of the shoulders, elbows,
to the thoracic (upper) spine, they may follow and hands. The examiner should be able to lift
the curve of the vertebrae, causing a rib rise the arms above the head. The elbows should
or “rib hump” when the child bends forward. straighten fully. All fingers should be able to be
School screening examinations for scoliosis are straightened and brought out of the palm.
The hip exam, like the spine exam, should Electrophysiology

be performed often, as early treatment of hip
Nerve conduction studies and electromyog-
problems gives the best outcome. The examiner
raphy (EMG, a recording of electric currents
should be able to abduct (spread apart) the hips
associated with muscle contractions) are use-
easily and symmetrically. Loss of hip abduction
ful in diagnosing a variety of neuromuscular
may indicate a hip dislocation or subluxation.
disorders, including anterior horn cell disease,
Another means of assessing whether the hip is
neuropathies, neuromuscular junction disor-
dislocated is to look at the knee heights with the
ders, and some myopathies. Advances in genetic
hips and knees flexed and the ankles together.
testing and immunohistochemistry of biopsy
The knee must be straight for standing but
specimens has resulted in changed distribution
must flex to 90 degrees for comfortable sitting
of pediatric patients who are referred for these
and flex even farther for easy stair climbing.
studies (Darras et al., 2000). In particular, Duch-
Tightness of the hamstring muscles can limit
enne and Becker muscular dystrophies are now
knee movement and impair the ability to stand.
primarily diagnosed with genetic testing and
The ankle should be examined for plan-
these patients are rarely referred to the EMG
tarflexion (downward motion of the foot) and
laboratory. Spinal muscular atrophy is usually
dorsiflexion (upward movement of the foot).
diagnosed with genetic testing now, though in
The ability to dorsiflex beyond a neutral posi-
some instances where the diagnosis must be
tion is important for both walking and sit-
confirmed rapidly, EMG still plays a significant
ting and should be tested with the knee both
role in evaluating these patients. EMG, espe-
extended and flexed. A child should be able to
cially in children, is technically demanding, and
maintain the feet in a plantargrade (flat on the
should be performed only by an electromyogra-
floor) position while walking, and maintain as
pher experienced in performing these studies in
much flexibility in the feet as possible.
children. This is important both for diagnostic
accuracy and for the comfort of the child, as the
LABORATORY procedure involves electrical stimulations dur-
TESTING AND RADIOGRAPHY ing the nerve conduction studies, followed by
needle examination of the muscle.
Serum Testing
Biopsy
Muscle enzymes are some of the most useful
laboratory tests in the evaluation of poten- Muscle, nerve, and skin biopsies have tradi-
tial neuromuscular disorders. The most well- tionally been essential to the diagnosis of many
known of these is the creatine phosphokinase neuromuscular and musculoskeletal disorders.
(CPK), also known as the creatine kinase (CK) Genetic testing, however, has changed the pro-
level. Aldolase is also useful as an adjunctive file of patients who are referred for these tests;
muscle enzyme marker. Three liver enzymes, patients with Duchenne and Becker muscular
alanine aminotransferase (ALT), aspartate ami- dystrophies rarely need muscle biopsies any-
notransferase (AST), and lactate dehydrogenase more as they can usually be diagnosed by iden-
(LDH), are also found in small quantities in tification of mutations in blood. Advances in
muscle and may show mild elevations in some genetics and biochemistry also have enhanced
muscle diseases, especially muscular dystrophy. the sophistication of biopsy interpretation, as
immunohistochemistry of biopsy sections can
Genetic Testing detect protein deficiencies that may indicate a
specific genetic defect.
Genetic testing has been a boon to diagnosing
inherited diseases, including neuromuscular
and musculoskeletal disorders, and is sparing an
Radiography
increasing number of patients from invasive and Abnormal musculoskeletal exam findings can
painful diagnostic procedures such as electromy- be illuminated by plain x rays of the involved
ography and biopsies (see following sections). areas, which can help detect movement limita-
However, genetic testing can mislead, especially tions caused by bony deformity. X rays are help-
when the ordering physician is unsure how to ful in detecting the shapes of bones but are a
interpret ambiguous genetic test results or does poor gauge of the quality of bone because bone
not interpret such results in the clinical context. loss will not be apparent until at least one third
218 Kang
of the bone has been lost. Bone density is best and walk, and usually have onset of motor diffi-
measured by a bone density scan. culties after 18 months of age but before adult-
Ultrasonography and magnetic resonance hood.
imaging (MRI) have only recently been applied Infants with SMA I develop diffuse hypo-
to the evaluation of possible muscle disorders, tonia and weakness with areflexia (lack of deep
but certain myopathies show distinct patterns tendon reflexes). Swallowing and breathing
of muscle involvement that may be detected by difficulties are serious, life-threatening com-
such methods (Jungbluth et al., 2004). These plications that may occur at any time. With-
tests have the potential to spare some children out interventions, affected children rarely
from undergoing invasive diagnostic proce- survive beyond 2 years of age and often die
dures such as muscle biopsy. much earlier. More recently, the placement
of gastrostomy feeding tubes and respiratory
interventions, including both noninvasive and
DISORDERS OF THE invasive options, have become more common in
NEUROMUSCULAR SYSTEM these children, extending their life expectancy,
sometimes for years. If a gastrostomy tube is to
Anterior Horn Cells: be placed, it should be done as early as possible.
Spinal Muscular Atrophy Lung interventions may include pulmonary toi-
let, supplemental oxygen, noninvasive pressure
The nerve cells (neurons) in the spinal col-
support, and tracheostomy with full mechani-
umn that control movement are called anterior
cal ventilation. Families and physicians should
horn cells. In the past, the most well-known
decide collaboratively on a treatment plan
disease associated with damage to the anterior
based on their ethical judgment about the qual-
horn cell was paralytic poliomyelitis. Fortu-
ity of life they feel is best.
nately, thanks to the polio vaccine, this viral
Infants and toddlers with SMA II typically
illness is rare, though not extinct due to pock-
present with hypotonia, areflexia, and delayed
ets of persistent infection in certain developing
motor milestones. They are also susceptible to
countries. A handful of children in the United
difficulties swallowing and breathing, but these
States adopted from these countries have motor
complications tend to occur later and progress
difficulties that are highly suspicious for prior
more slowly than in SMA I. Nutritional and
poliomyelitis infection (McMillan et al., 2009).
respiratory therapies are similar to those used
Currently, the most common disorder
in SMA I. Scoliosis is a frequent and disabling
affecting the anterior horn cell in children is
complication in these children, for which spine
spinal muscular atrophy (SMA; Darras et al.,
surgery is often helpful. Depending on the
2007). SMA is characterized by degeneration of
severity of the individual case and the level of
α-motor neurons in the brainstem and spinal
intervention, life expectancy ranges from late
cord, leading to progressive weakness that is
childhood through early adulthood.
nearly always predominantly proximal (involv-
Children with SMA III often present with
ing the muscles closest to the trunk) and sym-
gait difficulties, proximal weakness, and are-
metrical; intelligence is preserved (von Gontard
flexia, sometimes severe enough to cause delayed
et al., 2002). Most cases are associated with
motor milestones. The weakness is almost always
homozygous deletions in the SMN1 gene, mak-
symmetrical, though some exceptions have been
ing this an autosomal recessive disorder (Lefe-
described (Kang et al., 2006). Hypotonia, while
bvre et al., 1995; Melki et al., 1994). Currently,
present, is not as prominent a feature. Difficul-
SMA is the most common inherited cause of
ties swallowing and breathing are rare, and life
death in infancy, with an estimated incidence of
expectancy is usually not affected.
1 in 6,000 to 1 in 10,000 live births (Merlini et
al., 1992; Pearn, 1978; Pearn, 1973).
SMA has traditionally been divided into
Disorders of the
three clinical variants, based primarily on the Peripheral Nerves:
milestones attained. Patients with SMA I (pre- Charcot-Marie-Tooth Disease
viously known as Werdnig-Hoffman disease) The terms neuropathy and peripheral neuropathy
have onset typically before 6 months of age and are general terms that imply that some damage
are never able to sit or walk. In SMA II, patients to the nerve has occurred. Neuropathies may be
sit at some point during childhood but never motor, sensory, or sensorimotor (a combination
walk, and the onset is usually between 6 and 18 of the two). The term mononeuropathy implies
months. Patients with SMA III are able to sit that only a single nerve is damaged, whereas
polyneuropathy refers to a generalized process physical therapy, occupational therapy, braces

that affects all or most nerves, albeit with vary- and other orthopedic devices, and orthopedic
ing degrees of severity. Because acute autoim- surgery can help individuals with CMT finish
mune neuropathy (Guillain-Barré syndrome) school, work, and live functional lives despite
usually does not lead to prolonged disability, it the disabling symptoms of the disease (Berto-
will not be discussed in detail here. rini et al., 2004; McDonald, 2001; Shy, 2004).
Charcot-Marie-Tooth (CMT) disease is
the most common inherited polyneuropathy, Diseases of the Neuromuscular
affecting 1 in 2,500 individuals in the United
Junction: Myasthenia Gravis
States. An alternative term for this disorder,
hereditary motor and sensory neuropathy (HMSN), The peripheral nerves end at the neuromuscu-
has been recently introduced. CMTs are clas- lar junction. For a nerve impulse to cross the
sified based on their inheritance pattern (auto- synapse separating the nerve and muscle, the
somal dominant or recessive) and physiology chemical neurotransmitter acetylcholine must
(demyelinating or axonal). Demyelination be released from the nerve terminal, cross the
refers to a disease process in which the myelin space between the nerve and muscle, bind to its
insulation surrounding nerve axons is stripped receptor on the muscle membrane (much like
off, whereas axonal loss refers to a process where a key fitting into a keyhole), and generate the
the axons themselves degenerate. The major muscle membrane impulse that will transmit
categories of polyneuropathies are CMT1 the signal to the contractile structures within
(dominant, demyelinating), CMT2 (dominant, the muscle cell. Impairment of any of these
axonal), CMT4 (recessive, demyelinating), and mechanisms prevents the impulse from gener-
AR CMT2 (axonal, recessive). Déjerine-Sottas ating muscle movement and results in disorders
disease was previously known as CMT3, and is a called myasthenic syndromes (from myo mean-
rare, early-onset form of CMT. The most coming muscle and asthenia meaning fatigability).
mon form of CMT is CMT1A, which is caused In rare instances myasthenic syndromes are
by a duplication in the PMP22 gene (Lupski et genetic in origin (congenital myasthenic syn-
al., 1991). Hereditary neuropathy with liability drome), but they are most often acquired as
to pressure palsies (HNPP) is a related disorder autoimmune disorders. In children and ado-
in which patients are susceptible to compres- lescents, acquired autoimmune myasthenia
sion neuropathies after minor trauma. HNPP is typically referred to as juvenile myasthenia
is typically caused by a deletion of the PMP22 gravis. The most common symptoms are dip-
gene rather than a duplication. lopia (double vision), ptosis (drooping eyelid),
Onset of CMT depends on the specific dysphagia (difficulty swallowing), dysarthria
type and may occur at birth or not until adult- (changes in voice) including nasal speech, and
hood, but many cases are diagnosed in the first extremity weakness. These symptoms result
two decades of life. Patients with CMT typi- from cranial nerve involvement which is almost
cally present with weakness and wasting of the invariably present. The symptoms tend to
foot and lower leg muscles, which may result worsen with activity and towards the end of the
in foot drop and a high-stepping gait with fre- day. In the most severe cases breathing may be
quent tripping and falling. Foot deformities, impaired (Chiang et al., 2009).
such as pes cavus (high arches) and hammer- Treatment of juvenile myasthenia gravis
toes (a condition in which the ends of the toes generally targets improving neuromuscular
curl downward), result from weakness of the transmission and increasing muscle strength
intrinsic foot muscles. Some children can pres- while suppressing the production of abnormal
ent with pes planus (flat feet) and need arch antibodies. Pyridostigmine is a drug that is a
supports. The degeneration of myelin, axons, common first-line therapy. It is an acetylcho-
or both, results in muscle weakness and atro- linesterase inhibitor, which means that it pre-
phy in the extremities, and the degeneration vents acetylcholine from being metabolized at
of sensory nerves results in a reduced ability to the neuromuscular junction, raising its effec-
feel heat, cold, and pain. Because of the muscle tive levels. At high doses, pyridostigmine can
weakness, contractures develop with time, espe- cause cholinergic side effects (excessive secre-
cially at the heel cords, and sometimes curva- tions and sometimes worsening of myasthenia
ture of the spine may occur (Shy, 2004). symptoms), but in general it is well-tolerated.
In general, CMT is slowly progressive, and Its main drawback is that it is a relatively weak
people with most forms of CMT have a normal therapy, and often patients will need immuno-
life expectancy. There is currently no cure, but modulatory therapy as well.
220 Kang
There are three standard immunomodula- a significant number of boys with Duchenne
tory therapies available for myasthenia gravis: muscular dystrophy have no family history of
plasmapheresis, intravenous immunoglobulin, the disease.
and steroids. Plasmapheresis requires central The disease manifests in early childhood,
venous access (a surgically placed central line) although abnormal muscle creatine phospho-
in younger children and others with small- kinase (CPK) levels and microscopic signs
caliber peripheral veins, but in older chil- of muscle damage may be observed at birth.
dren and adolescents with large-caliber veins, Delayed walking and frequent falls are charac-
the treatments may be performed through a teristic initial symptoms. Boys with Duchenne
peripheral vein (standard intravenous therapy). muscular dystrophy often walk on their tip-
Intravenous immunoglobulin has also been toes, and manifestations of proximal hip girdle
used in some cases. Steroid therapy is perhaps muscle weakness become apparent by 3–5 years
the most traditional approach, but is associ- of age, when the child starts having difficulties
ated with significant side effects when used on a climbing in the playground, getting up from
long-term basis, especially in children and ado- the floor, climbing stairs, and running. Weak-
lescents. Thymectomy is a surgical procedure ness in the quadriceps and gluteus maximus
that removes the thymus, a gland in the chest muscles makes it difficult to rise from the floor
which plays a key role in regulating immune to a standing position, and affected boys use the
responses. This procedure appears to induce Gowers maneuver to compensate. Weakness
partial or complete remission in some cases of in the gluteus medius muscles leads to a Tren-
juvenile myasthenia gravis (Kogut et al., 2000). delenberg (waddling) gait. Pseudohypertrophy
of various muscles occurs, most commonly at the
Disorders of Muscle: Muscular calves (Figure 13.2). The term pseudohypertrophy
Dystrophies and Myopathies is used because the enlargement is due primar-
ily to fibrosis and fatty infiltration of muscle,
The two major categories of inherited muscle rather than a true increase in muscle fiber diam-
disease in childhood are the muscular dystro- eter or numbers.
phies and the congenital myopathies. Muscular Accelerated deterioration in strength and
dystrophies are characterized by the progres- balance often results from intercurrent disease
sive destruction of muscle tissue, whereas con-
genital myopathies typically involve either the
abnormal accumulation of certain proteins
or other developmental abnormalities in the
muscle fibers. These findings can be observed
on microscopic examination of skeletal muscle
tissue obtained at biopsy. Muscular dystrophies
tend to be progressive, whereas the clinical
course in congenital myopathies varies. There
is a vast array of muscular dystrophies, includ-
ing limb-girdle muscular dystrophies, congeni-
tal muscular dystrophies, facioscapulohumeral
muscular dystrophy, and Emery-Dreifuss mus-
cular dystrophy. Genetic etiologies have been
defined for each of these categories of disease.
Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is the most
common form of muscular dystrophy in child-
hood. It is a progressive skeletal muscle disor-
der caused by mutations in the X-linked DMD
gene, resulting in the absence of dystrophin,
a major muscle protein (Hoffman et al., 1987;
Monaco et al., 1986). The incidence of Duch-
enne muscular dystrophy is approximately 1 in
3,300 male births (Jeppesen et al., 2003). This Figure 13.2. Pseudohypertrophy of the calf muscles in a
5-year-old boy with Duchenne muscular dystrophy, character-
disorder is associated with a high spontane- ized by a deletion in exon 45 in DMD, the dystrophin gene.
ous mutation rate (van Essen et al., 1992), so (Courtesy of Peter B. Kang, M.D.)
or surgically induced immobilization. If ten- disease, and one of these constitutes the imme-
don releases are performed, mobilization in a diate cause of death in most cases. Cardiac
walking splint or cast is needed as soon as pos- manifestations include cardiomyopathy and
sible to prevent decrease in muscle strength cardiac arrhythmias; the progression of cardio-
from disuse. When ambulation is no longer myopathy may be slowed by the use of certain
possible, typically by the ages of 10–12 years, drugs. Progressive respiratory failure occurs
contractures in the lower extremities become from a combination of decreased lung capacity
more pronounced and may involve the shoul- and function. Noninvasive ventilatory support
ders. Daily physical therapy and occupational is now commonly recommended to counteract
therapy services at school and daily stretching this decline.
exercises at home are imperative. Lower-than-average IQ scores have been
Steroid treatment of Duchenne muscular reported in individuals with Duchenne muscu-
dystrophy should start early, though the opti- lar dystrophy, although results have not been
mal age for initiation of this therapy remains consistent and many children have typical cog-
controversial (Dubowitz et al., 2002; Kinali et nition (Felisari et al., 2000). Certain cognitive
al., 2002b). Oral prednisone (a steroid medi- areas such as verbal memory, digit span, and
cation) stabilizes or improves strength and in auditory comprehension are more affected than
many cases prolongs the ambulatory phase of others (Hinton et al., 2000). Deletions localized
the disease by 1–3 years (Griggs et al., 1993). in specific part of the dystrophin gene are pref-
The synthetic steroid Deflazacort, which is not erentially associated with cognitive impairment
currently approved by the U.S. Food and Drug (Giliberto et al., 2004). Similarly, the incidence
Administration, is preferred by some clinicians of behavioral issues, ranging from attention-
and families as the side effects are milder than deficit/hyperactivity disorder (ADHD) to autism
with prednisone in some cases. The one excep- spectrum disorder (ASD), seems to be increased
tion is asymptomatic cataract formation, which in boys with Duchenne muscular dystrophy
tends to be worse with Deflazacort (Biggar (Hendriksen et al., 2008; Wu et al., 2005).
et al., 2001; Campbell et al., 2003; Moxley et The life expectancy for patients with
al., 2005). Dietary supplements have generally Duchenne muscular dystrophy without signifi-
been found not to improve outcome (Escolar et cant interventions was previously less than two
al., 2005). decades. The supportive and medical therapies
Kyphoscoliosis may develop at any time described above, including spinal fusion sur-
but typically accelerates after ambulation is lost. gery, steroids, cardiac medications, and nonin-
This complication not only causes pain and pos- vasive ventilatory support, have together helped
tural problems, but also exacerbates pulmonary lengthen the life expectancy in many cases to
issues due to loss of effective lung volume. Base- the fourth decade, and in some cases to the
line spine x ray images should be obtained for fifth decade. Treatment by a multidisciplinary
comparison with future studies to monitor the neuromuscular team is critical to implementing
development of scoliosis. Using solid seat and such a care plan.
back inserts in properly fitted wheelchairs helps
slow the progression of scoliosis by keeping trun- Congenital Myopathies
cal posture erect. For some boys with Duchenne Congenital myopathies usually present in
muscular dystrophy, long-leg braces can be fit- infancy with marked hypotonia and weakness,
ted to allow braced upright standing to prevent feeding difficulties, and respiratory insuffi-
curvature. Both manual and power wheelchairs ciency. Within each type of congenital myopa-
are useful. When the kyphoscoliosis is severe thy, there is a spectrum of severity (Dubowitz
enough, usually at 30–50 degrees of curvature, et al., 1995; Ryan et al., 2003). In contrast to
spinal fusion surgery with rod placement may muscular dystrophies, congenital myopathies
be warranted to help preserve lung function and are more likely to be associated with cranial
improve posture (Brook et al., 1996). The opti- nerve involvement (facial weakness, eye move-
mal time for surgical intervention is while lung ment abnormalities, or both) and early respira-
and cardiac functioning is satisfactory (Finder et tory complications.
al., 2004). Failure to repair scoliosis at this point The classic congenital myopathies include
can result in increased hospitalization rates, centronuclear myopathy (including X-linked
worsening of pulmonary function, and poor myotubular myopathy), nemaline myopathy,
quality of life (Finder et al., 2004). central core disease, and congenital fiber type
Cardiac and respiratory complications disproportion (Riggs et al., 2003). These dis-
are almost universal in the later stages of the eases are listed in order of decreasing overall
222 Kang
severity, although there is phenotypic overlap incidence estimated to range from 1 in 3,000
among these subtypes. to 1 in 12,000 live births (Darin et al., 2002).
Causative mutations in various genes that The final common pathway for this condi-
encode structural muscle proteins, often local- tion is significant prolonged fetal immobility
izing to the sarcomere, have been linked with (Gordon, 1998). Over 150 distinct causes of
each type of congenital myopathy. Mutations arthrogryposis multiplex congenita have been
in MTM1 gene cause myotubular myopa- identified (Hall, 1997). The etiologies may be
thy (Laporte et al., 1996), and centronuclear divided into endogenous and exogenous catego-
myopathy has been associated with two genes ries. Endogenous causes are often genetic in
to date: DNM2 (Bitoun et al., 2005) and BIN1 nature, and include multiorgan system genetic
(Nicot et al., 2007). Nemaline myopathy has syndromes, connective tissue diseases, and cen-
been associated with mutations in 6 different tral and peripheral nervous system disorders.
genes: ACTA1 (Nowak et al., 1999), CFL2 Exogenous causes are typically maternal, and
(Agrawal et al., 2007), NEB (Pelin et al., 1999), include structural uterine problems, placental
TNNT1 (Johnston et al., 2000), TPM2 (Don- insufficiency, maternal myasthenia gravis, and
ner et al., 2002), and TPM3 (Laing et al., 1995). maternal multiple sclerosis (Livingstone et al.,
Central core disease and isolated malignant 1984). When a neuromuscular cause of arthro-
hyperthermia have been associated with muta- gryposis multiplex congenita is suspected, elec-
tions in the RYR1 gene (Quane et al., 1993; trophysiological testing and muscle biopsy are
Zhang et al., 1993). The phenotypic spectrum complementary and should both be pursued
of RYR1 has expanded recently, and mutations when possible (Kang et al., 2003).
in this gene have been associated with other Although spinal deformity at birth is
myopathies as well. uncommon for infants with arthrogryposis,
Caring for a child with a congenital 30%–67% of children with arthrogryposis will
myopathy will depend on specific complica- develop scoliosis during childhood. Most curves
tions. Respiratory interventions include inva- are resistant to bracing. Physical therapy and
sive and noninvasive supports, depending on occupational therapy, however, are helpful in
the individual case. A range of orthotic devices maintaining joint motion and maximizing func-
and orthopedic procedures may be helpful at tional development. In cases of arthrogryposis
various stages. Nutritional support may also associated with other congenital anomalies, the
be needed. No pharmacological treatment child may have additional medical problems
currently exists for any form of the disorders. that must be addressed.
These children generally have typical cogni- Long-term orthopedic management is
tive development, so education should be pro- directed at maximizing function. Because
vided at the appropriate age and grade level. arthrogryposis can be caused by many disor-
However, some children may have difficulty ders, there is no single management plan. The
speaking due to facial and tongue weakness, common goals are independent ambulation or
and sometimes due to a tracheostomy, so an wheelchair mobility, self-care, and the ability
augmentative/alternative communication to be employed and live independently. The
evaluation is essential. Rehabilitation focuses initial treatment of any contracture involves
on improving daily living skills. gentle stretching and range-of-motion exer-
cises. Once the joint is in a proper position, a
lightweight splint may help prevent recurrence.
DISORDERS OF THE
If a joint’s range of motion is not acceptable,
MUSCULOSKELETAL SYSTEM casting or soft-tissue release followed by cast-
Musculoskeletal disorders may involve abnor- ing may improve it. The limitations of surgi-
malities of just one limb or joint or the entire cal interventions should be kept in mind in this
skeleton. This section discusses the different patient population (Lahoti et al., 2005).
types of musculoskeletal disorders, providing
an example of each. Skeletal Dysplasias: Achondroplasia
The skeletal dysplasias are a large, genetically
Joint Disorders: Arthrogryposis diverse group of conditions characterized by
The term arthrogryposis refers to congenital abnormalities in the development, growth, and
joint contractures, and arthrogryposis multiplex maintenance of the skeleton. Many of these dis-
congenita is a syndrome in which arthrogryposis orders result in disproportionate short stature
is present in at least two major joints, with an (Savarirayan et al., 2002). There are approximately
175 different skeletal dysplasias (OMIM, 2011; Osteogenesis imperfecta (OI) is caused
Orioli et al., 1986; Stoll et al., 1989). by a failure of formation of type I collagen,
Achondroplasia is the most common form the scaffolding on which bone mineral is laid
of short stature associated with disproportion- down. Blue sclera (the part of the eye that is
ately shortened limbs. It occurs in 1 of every normally white) and poor dentition, along with
15,000–25,000 live births, and has been found fractures and bone deformity, are OI’s most
to result from a point mutation in the gene cod- common characteristics. The clinical diagno-
ing for fibroblast growth factor receptor 3 or sis of OI is supported by a skin biopsy to test
FGFR3 (Matsui et al., 1998). The condition is for the underlying genetic defect (Minch et al.,
inherited as an autosomal dominant trait, and 1998). OI has a prevalence of 1 in 20,000 births.
most individuals have the same genetic muta- Although hundreds of genetic variants have
tion, so the condition’s physical manifestations been identified, most result from a mutation in
tend to be similar across individuals (Bellus et the COL1A1 (on chromosome 17) and COL1A2
al., 1995). It is important to monitor affected (on chromosome 7) genes.
children for potentially serious complications Orthopedic care has been the mainstay
such as hydrocephalus, craniocervical junction in managing OI and involves measures to pre-
compression, upper airway obstruction, and vent fractures, to treat acute fractures, and to
kyphosis (Trotter et al., 2005). correct bony deformities. People with OI are
Thoracolumbar kyphosis (curvature of particularly susceptible to disuse osteoporosis
the mid-lower spine in the front to back plane) (bone weakness); therefore, promoting mobility
is present to some degree in most infants with in both daily life and after an injury is essen-
achondroplasia as a result of their enlarged tial. Placing rods inside the bones for support
heads, hypotonia, and ligamentous laxity at the time of a fracture or in conjunction with
(double jointedness). The kyphosis typically osteotomies (surgical cuts through the bone
improves spontaneously once the child begins to correct deformities) can improve the bone
to walk, but 10%–15% of children require alignment, shorten rehabilitation time, and
bracing or surgical correction of the curvature help prevent future fractures. Deformity of the
(Ain & Browne, 2004; Ain & Shirley, 2004). spine occurs in 40%–80% of individuals with
Careful monitoring is essential, and support for OI. Because thoracic curves can decrease lung
the back, particularly in the very young child, capacity (Widmann et al., 1999), orthopedic
may be helpful. consultation is recommended for monitoring
The major impairments of the extremities curve progression, with spine fusion surgery
are short limbs, limited elbow and hip extension, performed if necessary (Engelbert et al., 1998).
and knee and leg deformities that can impede The bone fragility seen in OI is due to dis-
locomotion. Genu verum (bowed legs) occurs turbed organization of bone tissue, decreased
in 40% of individuals with achondroplasia, but bone mass, and altered bone geometry. While
only 25% will experience a clinically signifi- healthy-growing children form 7% more bone
cant deformity that requires surgical correction than they resorb (lose) during growth and
(Beals et al., 2005). Significant advances have remodeling, children with mild OI only form
been made in limb-lengthening procedures, 3% more bone than they resorb. Children with
but it still takes about 3 years to achieve the moderate to severe OI form essentially the same
desired lengthening. Growth hormone therapy amount of bone as they resorb. This imbal-
has achieved only limited success in people with ance informs the rationale for treating affected
achondoplasia (Hagenas et al., 2003). children with bisphosphonates (e.g., alendro-
nate, typically used to treat osteoporosis in
Connective Tissue postmenopausal women), because this medica-
Disorders: Osteogenesis Imperfecta tion reduces osteoblast-mediated bone resorp-
Connective tissue disorders are caused by the tion (Shaw et al., 2005; Zeitlin et al., 2003).
mechanical failure of collagen, which results Recent data suggest that these agents are most
in joint hypermobility and, in the case of chil- effective in younger children with severe forms
dren with osteogenesis imperfecta (OI), brittle of the disorder. However, older children on
bones. Other examples of connective tissue dis- bisphosphonate therapy do report a reduction
orders include Ehlers-Danlos syndrome and in bone pain and improvement in confidence
Marfan syndrome (see Appendix B). and general well-being (Pizones et al, 2005).
224 Kang
PRINCIPLES FOR however, its efficacy has not been proven in a

THE MANAGEMENT randomized controlled trial. Steroids have been
shown to improve the motor outcome in Duch-
OF NEUROMUSCULAR AND
enne muscular dystrophy, as discussed above.
MUSCULOSKELETAL DISORDERS Also, specific subtypes of congenital myasthenic
Recommended standards of care have been syndrome respond to various medications.
published recently for Duchenne muscular It is important for children with neuro-
dystrophy (Bushby et al., 2010a; Bushby et al., muscular disease to have routine immunizations
2010b) and spinal muscular atrophy (Wang et as recommended by the American Academy of
al., 2007), and provide greater detail regarding Pediatrics (2010), especially when there is a high
the care of such disorders. These standards are risk of pulmonary complications. They should
by no means the last word on the subjects, but also receive the pneumococcal and annual influ-
they summarize what is currently known about enza (flu) vaccine. Certain immunizations may
caring for children with these conditions and need to be deferred for some patients, such as
what gaps in knowledge persist. those with active or recent episodes of Guillain-
Barré syndrome and patients with active cases
Medical Care of chronic inflammatory demyelinating poly-
radiculoneuropathy. Parents of such patients
The autoimmune neuromuscular disorders,
should discuss the advisability of having certain
including Guillain-Barré syndrome, chronic
vaccinations with the child’s physicians.
inflammatory demyelinating polyradiculo-
Children with myopathies and muscular
neuropathy, and myasthenia gravis, typically
dystrophies are at increased risk for sleep apnea.
respond to immunomodulatory therapies such
Symptoms may be noticeable during daytime
as plasmapheresis, intravenous immunoglobu-
and often involve fatigue, falling asleep dur-
lin, and steroids. One major exception is Guil-
ing class, or morning headaches. A polysom-
lain-Barré syndrome, which responds to the
nogram (sleep study) with continuous carbon
first two therapies but not to steroids.
dioxide monitoring is the best way to assess the
Two important precautions apply to
need for ventilatory support. Provision of non-
patients with primary muscle diseases. First,
invasive nocturnal ventilation can significantly
rhabdomyolysis (breakdown of muscle tissue)
increase quality of life and lengthen life expec-
and myoglobinuria (the resulting spillage of
tancy (Baydur et al., 2000).
myoglobin into the urine) may occur in isola-
tion, or in the context of certain muscle diseases
(Mathews et al., 2011), especially in the context
Rehabilitation Management
of strenuous exercise, dehydration, or both. It is believed that physical therapy and reha-
Whenever this reaction occurs, the individ- bilitation play an important role in maximiz-
ual should be taken to the nearest emergency ing functional status and tone, and may even
department immediately, as the myoglobin- slow the progression of some diseases, though
uria aspect of the reaction has the potential to this effect is subtle and difficult to prove. Data
cause permanent kidney damage. Intravenous are sparse regarding the effectiveness of physi-
fluids will avert renal injury in most cases. Sec- cal therapy, stretching exercises, and braces in
ond, the risk of malignant hyperthermia with patients with neuromuscular disorders.
certain anesthetic agents may occur in associa- In muscular dystrophies there is a consen-
tion with RYR1 mutations (MacLennan et al., sus that high-resistance exercises, especially those
1990; McCarthy et al., 1990)or in the setting of involving eccentric contractions (i.e., weight lift-
muscle diseases, including muscular dystro- ing, abdominal crunches), are damaging to the
phies and congenital myopathies such as RYR1- muscle cell membrane and should be avoided
associated central core disease (Quane et al., (Ansved, 2003). However, the impact of a sed-
1993; Zhang et al., 1993). entary life is equally negative (McDonald, 2002).
Medical therapies for the inherited neuro- Therefore, active, nonresistive exercises are
muscular disorders are often limited, but there encouraged; swimming is a good example (with
are some important medications for certain the proper safeguards). An active lifestyle will also
disorders. Albuterol (an asthma medication) prevent excessive weight gain, especially if the
appeared to increase patients’ strength in two child is receiving steroids. Daily walks help main-
studies involving patients with SMA II (Kinali et tain strength and slow contracture formation.
al., 2002a; Pane et al., 2008) and some clinicians Both the nature and quantity of activity
now prescribe this for certain SMA patients; should be modified so that fatigue does not
remain after a night’s sleep. Wheelchair games essential that these children be given diets rich
can be played when ambulation is lost. Children in calcium and vitamin D, with supplementa-
with neuromuscular disorders who are confined tion of vitamin D in some cases depending on
to bed because of the disease, injury, or surgery the specific disease and the stage of illness.
require physical therapy, including range-of-
motion exercises, with prompt progression to Educational Services
more active exercise, including walking when Children with acute neuromuscular disorders
possible. In the event of leg fractures, walking such as myasthenia gravis or inflammatory
casts should be used as soon as possible (Siegel, myopathies may require prolonged admis-
1977), and every effort should be made to limit sions to the hospital, which can entail extended
the amount of time the child spends in a cast. absences from school. Some require home-
For those children who develop difficulty bound instruction during convalescence. Once
with activities of daily living, occupational ther- the child returns to school, supportive measures
apy evaluation at school is essential to assess such as physical therapy and occupational ther-
self-feeding, self-care, torso positioning within apy may be very helpful (Table 13.1). Children
the classroom, and writing. A keyboard should with fluctuating disorders such as myasthenia
be provided to complete school tasks, and an gravis may require rest periods or a shortened
assistive technology evaluation should be com- school day. Children with chronic disorders
pleted. A voice recorder is useful for taking such as congenital and hereditary progressive
notes or a note-taker can be appointed. Some myopathies, as well as chronic polyneuropa-
students may require a classroom aide in order thies, require specialized rehabilitation care.
to participate fully in the academic environ- Steroids are used in neuromuscular dis-
ment and safely navigate the school building. eases such as Duchenne muscular dystrophy,
chronic inflammatory demyelinating polyra-
Contractures diculoneuropathy, and myasthenia gravis. Two
Stretching exercises, nighttime splinting, or side effects, behavior problems and weight gain,
both together should be recommended as soon
as tightness of the heel cords is noticed (Hyde
et al., 2000). A standing board tilted at an Table 13.1. School accommodations for children
appropriate angle may be used for limited peri- with neuromuscular and musculoskeletal disorders
ods during the day to help stretch the Achilles Physical and occupational therapy
tendon in children who do not ambulate. If
Stretching
stretching and orthoses (bracing) are not effec-
Range-of-motion exercises
tive, surgical release of tight heel cords may be
Muscle cramp massage
beneficial (Goertzen et al., 1995). Temporary
Safety training (on stairs and playground)
bracing after tendon surgery is necessary for
Hallway safety
optimal results. Further details on orthoses may
Accommodating activities of daily living to changing
be found in Chapter 33. physical needs (e.g., toileting, lunchtime/cafeteria
safety)
Bone Health Adapted or modified physical education and sports
In children with neuromuscular and muscu- for individuals with disabilities
loskeletal disorders, a fracture can occur with Consultation for body positioning, seating, and
gross- and fine-motor function
little or no trauma (e.g., from gentle range-of-
Assistive technology
motion exercises during physical therapy). Such
fractures are called pathologic fractures and Specialized accommodations
may result from bone fragility (especially osteo- Provision of an additional set of textbooks to avoid
genesis imperfecta), as a secondary effect of a having to transport books from one classroom to
medication (e.g., steroids, antiepileptic drugs), another
or as weakness from disuse (Sambrook et al., Access to an elevator
1995). Children with pathological fractures Consideration of students’ physical needs when
may have swelling and increased warmth of the designing class schedule
fractured extremity. Weight-bearing activities Preferential seating in the classroom
are important for maintaining bone density, Consideration of students’ physical needs when
developing a school emergency evacuation plan
as bones have internal receptors that recog-
Consideration of students’ needs when planning
nize weight-bearing activity and send signals to field trips and school events
make bones stronger in response. Similarly, it is
226 Kang
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DiMaio, M.F., & Schneider, R. (1999). Spinal defor- tor gene associated with central core disease. Nature
mity, pulmonary compromise, and quality of life in Genetics, 5, 46–50.
osteogenesis imperfecta. Spine, 24, 1673–1678.
14 Patterns in
Development
and Disability
Louis Pellegrino

■ Understand the clinical definitions of development and disability
■ Comprehend individual and contextual contributions to development and
disability
■ Recognize how typical and atypical patterns of development are assessed
■ Be able to explain how disturbances in expected patterns of development lead
to the diagnosis of specific developmental disabilities
■ ■ ■ BJ parents say that his skills are most like those of

a 1½-year-old.
BJ is a 3-year-old boy who demonstrates skills
BJ and other children who have significant
significantly below his age level. He sat inde-
developmental delays raise concerns about the
pendently at 12 months of age (typical age, possibility that they may have a developmental
6 months) and walked for the first time at 22 disability. The terms development and disability
months of age (typical age, 12 months). He are frequently used together to describe a range
began using single words at 24 months of of problems that are usually recognized in
age (typical age, 12 months) and just recently childhood but that may have lifelong functional
started putting words together. BJ responds implications. Both terms have become so much
inconsistently to single-step commands and is a part of common usage that it is easy to lose
beginning to point out body parts following ver- sight of their precise meaning, when used either
bal direction. He is mainly interested in explor- separately or together. This chapter describes
atory play and is starting to show an interest in
how disability arises from disturbances in typi-
cal patterns of development.
simple pretend play. He can remove his socks
and shoes but is otherwise dependent on his
parents for dressing and undressing. Although DEFINING DISABILITY
BJ is not yet toilet-trained, he is beginning to The term disability, like the term development,
show interest in it, but is inconsistent in indi- is both widely used and widely misunder-
cating when a diaper change is needed. His stood. At its most basic level, disability refers
231
232 Pellegrino
to a decrement in the ability to perform some in diagnosing disability differ qualitatively from
action, engage in some activity, or participate in those involved in diagnosing etiology, they do
some real-life situation or setting. Like develop- occur in parallel, and the results of one diag-
ment, disability can be thought of with respect nostic process tend to shed light on the other.
to person-specific factors (e.g., the inability to For example, specific brain imaging findings are
walk as a result of a neuromuscular disorder) often associated with spastic cerebral palsy in
or to environment-contingent factors (barriers preterm infants (see Chapter 24).
or obstacles that lead to functional limitations The relationship between etiological diag-
for individuals). Historically, the tendency has noses and disability diagnoses is complex. For
been to define disability mainly in terms of an example, Down syndrome (see Chapter 18) is
individual’s physical, cognitive, or psychological a specific etiological diagnosis known to be a
impairment. The trend more recently, however, cause of intellectual disability. Many other spe-
has been to define disability in relation to the cific genetic, neurological, and medical condi-
ecological and environmental context. tions have also been associated with intellectual
disability. Conversely, intellectual ability also
Behavioral and varies in the general population, and individu-
Functional Considerations als at the lower end of ability may meet the
functional criteria for an intellectual disability.
Clinically, disability is most often described
For these individuals, there is often no discrete,
and defined (diagnosed) with reference to an
medically defined pathological cause for their
individual’s functional and behavioral traits.
disability. In these cases, learning and cognitive
As described in this chapter, specific disabil-
disabilities tend to “run in the family,” that is,
ity diagnoses are defined based on the pattern
may be influenced more by environmental fac-
of strengths and weaknesses observed within
tors; the disabilities may not be associated with
and among several functional domains, with-
a definable neurological or genetic abnormality.
out explicit reference to the medical, genetic,
Cerebral palsy and some forms of learning
or environmental factors that may relate to the
disability provide an important counterpoint to
formation and expression of that disability. The
this. Cerebral palsy can result from a number
Diagnostic and Statistical Manual of Mental Disor-
of causes, but in all cases, it is thought to be the
ders, Fourth Edition, Text Revision (DSM-IV-TR;
consequence of a discrete pathological process
APA, 2000) and the International Classification of
that disrupts normal brain function (see Chap-
Mental and Behavioral Disorders (WHO, 2007)
ter 24). In other words, cerebral palsy would not
provide standardized definitions of many dis-
be found as a variant of motor function in the
ability diagnoses based on functional and behav-
general population. By contrast, some forms of
ioral characteristics, although these classification
learning disability represent variations in infor-
schemes are imperfect in their representation of
mation processing that exist in the general pop-
diagnostic nuances, do not attempt to describe
ulation. Certain types of learning disability thus
variations in function, and do not consider envi-
may not result from a discrete pathological pro-
ronmental aspects that influence function.
cess at all. For example, studies of children with
reading disabilities suggest that reading decod-
Etiologic Considerations
ing skills vary on a continuum and that reading
in the Definition of Disability disability or dyslexia represents a difference of
An etiological diagnosis defines the exact cause degree (e.g., typically developing children with
of an illness or disorder (etiology refers to the very weak reading skills) rather than a differ-
cause of a medical condition). In contrast to a ence of kind (e.g., atypically developing chil-
disability diagnosis (which is based on functional dren whose reading skills differ fundamentally
and behavioral characteristics), an etiological from those of other children; Shaywitz, Morris
diagnosis often involves specialized medical test- & Shaywitz, 2008).
ing (e.g., genetic tests, brain imaging studies; see A specific etiological diagnosis may be
Chapters 1, 12, and 17). For children with devel- made based on the medical and physical exami-
opmental issues, both developmental disability nation findings alone, but additional laboratory
and etiological diagnoses must be considered. testing is required to identify or confirm a diag-
When a child is diagnosed with a developmen- nosis in many instances. Genetic and neurologi-
tal disability, such as cerebral palsy or an autism cal tests are most relevant to diagnosing etiology
spectrum disorder (ASD), it is natural to won- when evaluating developmental disabilities. In
der what caused the disability. It is important to general, selecting tests must be determined on
recognize that although the processes involved a case-by-case basis (see Chapter 17).
Patterns in Development and Disability 233
Societal, Cultural, and interventions, which are likely to be most effec-

Therapeutic Considerations tive if multiple levels in the disability hierarchy
are addressed.
Various classification schemes have emerged
As the name implies, the International Clas-
over several decades in attempts to better
sification of Functioning, Disability, and Health
define disability and place it into a meaningful
(ICF, for short) considers ability, disability, and
conceptual framework. Two frequently refer-
health as being intimately related and subject to
enced models of disability are 1) the National
considerable variation based on multiple vari-
Center for Medical Rehabilitation Research
ables. Several broad categories (see Table 14.1)
(NCMRR; National Institutes of Health, 1993)
involving body functions and structures, activi-
Model of Disability; and 2) the World Health
ties and participation, and environmental factors
Organization (WHO) International Classifi-
are included in many subdivisions and qualifi-
cation of Functioning, Disability and Health
cations, allowing function and disability to be
(ICF; 2001). These models are summarized in
characterized within a matrix of individual and
Table 14.1.
environmental elements (an online version of the
The NCMRR model sees disability as
classification scheme is available at http://apps.
including elements associated with the indi-
who.int/classifications/icfbrowser/). The ICF is
vidual on the one hand, and the societal and
intended to complement traditional classifica-
cultural context on the other. Pathophysiology,
tion schemes that focus on disease and diagnosis
impairment, and function limitation refer to the
rather than health and function. In 2007, a child-
individual’s characteristics that affect function,
focused version of ICF, known as the Interna-
and societal limitation refers to environmental
tional Classification of Functioning, Disability
characteristics that do so. In this scheme, dis-
and Health for Children and Youth (ICF–CY),
ability is the point of interaction between the
was introduced. This version accounts for the
individual and environmental components of
developmental aspects of function and disability
function. For example, a person with cerebral
that were not adequately addressed in the origi-
palsy may have damaged or distrupted motor
nal ICF (Simeonsson et al., 2003; WHO: ICF-
control pathways in the brain (pathophysiol-
CY, 2007).
ogy) that result in difficulties with muscle tone
and control (impairment) that in turn prevent
the movements required for walking (functional
Legal Considerations
limitation). Reduced mobility (disability) is a Legal definitions of disability are narrowly
function both of the difficulties with walking constructed based on the presence or absence
and with environmental barriers. For example, of functional impairments as they relate to
lack of wheelchair access or financial support to legal mandates to address these deficits. For
purchase a wheelchair (societal limitations) con- example, under the Individuals with Disabilities
tribute to loss of mobility. The NCMRR model Education Improvement Act (IDEA) of 2004
is especially helpful in planning therapeutic (PL 108-446), a disability exists only if “special
Table 14.1. Biopsychosocial models of disability

National Center for Medical World Health Organization
Rehabilitation Research (NCMRR) International Classification of Functioning,
Model of Disability (NIH; 1993) Disability and Health (ICF; WHO, 2001)
Pathophysiology: Interruption or interference with Body Functions & Structures: Functional characteris-
normal physiology or development tics of various body systems and structures
Impairment: Losses or abnormalities of cognitive, Activities: Tasks and actions of an individual
emotional, physiological, or anatomical structure or Participation: Integration of activities and involve-
function ment in real-life settings
Functional Limitation: Restriction or lack of ability to Environmental Factors: Aspects of the physical, soci-
perform an action within expected parameters for a etal and cultural environment that influence function
particular organ or organ system
Disability: An inability or limitation in performing
tasks, activities, and roles to levels expected within
the physical and social context
Societal Limitation: Restrictions attributable to
societal or physical barriers which prevent access to
opportunities for full participation in society
234 Pellegrino
instruction” is required. Likewise, under the predictable ways that behavior changes during
U.S. Social Security Act, disability is recognized the human life cycle. At its most basic level,
if it affects an adult’s capacity for employment; behavior refers to any action that a person can
in a child it applies if the disability significantly perform and another can observe. Moving a
limits activities (US-SSA, 2011). leg, sneezing, saying a word, or composing
What follows is a description, in general a symphony are all forms of human behavior.
terms, of what constitutes typical and atypical Behavior can be characterized as simple (mov-
development. ing an arm) or complex (playing a concerto).
Some forms of behavior are inherently more
meaningful than others (e.g., talking versus
DEFINING DEVELOPMENT
coughing). With regard to the definition of
Development in a generic sense can refer to development, behavior that is most directly rel-
anything that changes over time (e.g., a pho- evant to real-life situations tends to be of great-
tographic negative develops), but it most often est interest. Behavior is also used as a proxy for
describes an organic process of change. For aspects of cognition and emotion that are criti-
the purposes of this book, the term development cally important to development but that cannot
is used with reference to changes in human be observed directly. Observing and interpret-
thought, behavior, and function. Develop- ing behavior is, in fact, the main focus in devel-
ment is distinguished from growth, which refers opmental assessment.
more specifically to physical increases in height,
weight, head size, and sexual maturation. Development and
Although the concepts growth and development
the Nervous System
are obviously connected, the techniques used to
measure and describe them tend to be separate. Development is dependent on the brain, and
As applied to the individual human being, the predictable behavioral changes that char-
the term development can possess different acterize development occur in parallel with
meanings. On the one hand, a person changes the maturation of the central nervous system
in response to a specific set of life circumstances (CNS; Figure 14.1). Functional and structural
and experiences. In this sense every human changes in the human nervous system are most
being has a unique developmental history that dramatically evident during fetal life and early
can never be replicated. On the other hand, it is childhood but continue into adulthood (see
well-known that individuals experience changes Chapters 2 and 12). Early brain development
in cognition, emotion, and in specific abilities is dominated by a genetically predetermined
that likely indicate a common “blueprint” that series of events resulting in the formation of
transcends individual life histories or cultures. basic brain structures. By the end of the second
For example, walking is begun and mastered trimester of pregnancy, the maximum num-
at about the same age and seems to follow a ber of neurons (brain cells) that an individual
fairly consistent sequence. Similarly, children will possess in his or her lifetime have already
universally and spontaneously learn to speak formed in the fetal brain. Subsequent brain
their native language and do so in a predictable development is dominated by processes that
sequence of steps without any explicit instruc- increase the connectivity and functionality of
tion in vocabulary or grammar. Additional gen- existing neuronal elements.
eral changes in behavior and social-emotional Myelination is a process that involves
responses also occur on a predictable timeline elaboration of supportive structures that
and in predictable ways. Infants begin to exhibit improve transmission of electrical impulses
“stranger anxiety” at about 8 or 9 months of from one part of the nervous system to another.
age. Toddlers demonstrate limit-testing behav- Myelination is most exuberant during early
ior as part of increased autonomy. School-age childhood (especially during the first 3 years)
children become enamored of rules and enjoy a but continues into adulthood. Synaptogenesis
sense of industrious accomplishment. Preteens is the elaboration of connections, or synapses,
and teens experience a sense of independence between individual neurons. This process peaks
and identity in the context of intensified peer between 7 and 8 years of age; thereafter, there
relations. is a drop-off in the total number of synapses,
Human development is wonderfully var- related to a “pruning back” of underutilized
ied but reasonably predictable, and for the connections (Volpe, 2008).
purposes of this discussion, may be defined as These processes promote and are inti-
follows: Development refers to the characteristic, mately connected to developmental change.
Head circumference
Neuronal proliferation
Glial proliferation
A 1 year 2 years 3 years 8 years
Myelination
Synaptogenesis
B 1 year 2 years 3 years 8 years
Figure 14.1. Patterns in brain maturation (Source: Volpe, 1995). A) During the first trimester of pregnancy,
central nervous system development is dominated by formation of basic brain structures in association with
proliferation of brain cells (neurons). The peak number of neurons is achieved at the end of this period. Prolifera-
tion of supporting elements (glial cells) begins by the end of the second trimester and continues through early
childhood. B) Myelination (formation of the “insulation” of neuronal connections) proceeds in parallel with the
development of glial cells and continues into adult life. Synaptogenesis (formation of the network of connections
between neurons) is most exuberant during early childhood and begins to level off in late childhood.
For example, myelination of key corticospi- network of functional connections within and
nal pathways (pathways from the cortex of the across many cortical and subcortical domains,
brain to the spinal cord that orchestrate move- and these networks are continually enhanced
ment) during the first year of life is one of the and elaborated throughout the life span.
main determinants of early gross motor devel-
opment (i.e., rolling over, sitting, and crawling; Development in Context
Volpe, 2008). Critical changes in the brain’s
Developmental change is driven from both
functional organization occur toward the end
within and without. Neurological maturation
of the second year of life that create an oppor-
is the internal driving force; the environment
tunity for explosive language development that
represents external influences. The “environ-
typically occurs between 18 and 24 months of
ment” is actually not a single entity; it consists
age (Redclay et al., 2008). Changing nervous
of the physical environment and the social con-
system plasticity (the ability of the nervous sys-
text. The physical environment is the Newto-
tem to change or adapt) over the course of the
nian universe of light and heat, cause and effect,
human life cycle also creates opportunities and
friction and gravity to which all organisms must
constraints on development. One example of
adapt. The social context consists of the people,
this is the well-known observation that young
activities, and social settings that surround the
children much more easily attain fluency in a
developing individual and that are defined by
foreign language than adults or older children
history and culture. Various developmental the-
(beyond 8 or 9 years of age) do. Indeed, there
ories have tended to emphasize these different
appears to be a sensitive period for language
influences to a greater or lesser extent.
acquisition during these early years; children
who miss this opportunity will most likely never
develop fluency in any language (Kuhl, 2010). Developmental Theories
The good news for adults is that although there Gesell (per Knobloch & Pasamanick, 1974)
is decreased brain plasticity with age, learn- emphasized the maturational aspects of devel-
ing continues unabated through the entire opment; Piaget (1990) focused on the devel-
life cycle. The brain works by creating a rich opment of cognitive and problem solving
236 Pellegrino
abilities relative to the physical environment; organized around a specific task. In this connec-
and Vygotsky (1986) identified the importance tion, dynamic systems theory provides a more
of the sociocultural system in providing the satisfying explanation for variations in develop-
basis for the development of higher cognitive ment that are difficult to explain otherwise. For
processes. Bronfenbrenner (1979) took this a example, many infants who are otherwise typi-
step further by describing the developmental cal in their motor development may show unex-
settings within which the individual is immersed pected departures from the expected sequence
and that serve as the engine for developmental of motor milestones. Healthy preterm infants
change. are especially known for this; many exhibit tran-
Bronfenbrenner’s model is appealing sient differences in muscle tone in early infancy
because it provides a way of thinking about that result in relatively low muscle tone (loose-
developmental change as it occurs in real-life ness) in the trunk or torso and relatively high
settings. For example, language development muscle tone (stiffness) in the legs. This pattern
would be viewed emerging within the context makes it relatively difficult for them to maintain
of the home and the parent–child relationship, a sitting posture but tends to affect other activi-
and not simply as something that “happens” ties to a lesser degree. Infants who are unable
to the child. Bronfenbrenner also recognized to sit may be able to crawl or even pull them-
that the development process involves everyone selves up to stand, in apparent defiance of the
embedded within a particular developmental expected sequence of milestones. Maturational
setting (i.e., the child is not the only person who theories cannot easily explain this phenom-
develops). Development is seen to be a property enon. Dynamic systems theory would suggest
of the social landscape as much as a property that muscle tone differences make certain tasks
of the individual, and Bronfenbrenner recog- more difficult (in this example, sitting) but have
nizes cultural differences that influence both less of an effect on other tasks (e.g., crawling,
the nature and interpretation of developmental pulling-to-stand).
change. The individual is a nexus of potential Another example relates to the well-
action that is only actuated when placed in this researched recommendation that infants should
larger social and cultural context. sleep on their backs to reduce the risk of sud-
Newer developmental theories attempt to den infant death syndrome (SIDS; American
transcend older distinctions by conceptualizing Academy of Pediatrics, 2005). Implementing the
the human organism as an amalgam of func- recommendation resulted in the desired effect of
tional components or systems that cooperate reducing SIDS, but it also resulted in changes
in an ongoing process of adaptation to chang- in the expected pattern of motor development
ing environmental circumstances. Dynamic during the first year of life (Majnemer & Barr,
systems theory, in particular, emphasizes that 2006). Infants who sleep on their backs (supine
behavior is task-specific and focuses on process position) tend to learn to roll, sit, crawl, and pull
rather than product when describing the deter- to stand later than infants who sleep on their bel-
minants of developmental change (Spencer, lies (prone position). Infants in both groups walk
2006). For example, motor development is usu- independently at about the same time. A purely
ally seen as directly resulting from neurologi- maturationalist perspective cannot explain this
cal maturation; in this sense, milestones such difference. Dynamic systems theory would sug-
as rolling, sitting, and walking are considered gest that the prone position offers mechanical
to be genetically and neurologically “prepro- advantages over the supine position relative to
grammed” events. the emergence of these motor activities. Infants
Dynamic systems theory places neurologic who spend more time on their backs are there-
maturation on par with several other cooper- fore at a temporary disadvantage with regard to
ating systems, including musculoskeletal com- early motor development (the dramatic advan-
ponents, sensory integrative mechanisms, and tage of the supine position—reducing the rate of
individual-specific characteristics such as body SIDS—clearly outweigh any short-term disad-
and head size. Developmental sequences, rather vantages, however).
than being rigidly predetermined, are in a Dynamic systems theory offers a concep-
sense discovered through a dynamic process of tual framework for explaining both expected
adaptation. Skills are self-assembled as a child patterns of development and normal variations
engages in a series of trial-and-error processes, in these patterns. It allows for the possibility
drawing upon relevant functional systems and that similar functional outcomes can be arrived
at by different pathways and that each individ- together to form a phrase), gross motor skills
ual pursues a unique developmental trajectory (jumping in place), symbolic play (engaging
that can never be exactly replicated. in pretend play with dolls), and academic skills
(reading at grade level).
These two schemes are not mutually
PATTERNS IN DEVELOPMENT exclusive; in fact, skill sets make specific contri-
butions to larger functional domains, and func-
Developmental tional domains provide a frame of reference for
Strands, Streams, and Domains specific skill sets. For example, the ability to
In order to make reproducible observations of manipulate small objects (a specific type of fine
development, it is necessary to break it down motor skill) contributes to the ability to work
into component parts. The component parts with buttons and zippers when getting dressed
have been variously described as developmen- (a broad functional category). In practice, both
tal strands, streams, and domains (Table 14.2). types of schemes are deployed in different con-
Most developmental screening and psychomet- texts to help characterize a particular child’s
ric instruments rely on this fragmentation of developmental pattern.
development into domains; however, how these
domains are defined can vary. Developmental Milestones
Development may be defined in terms of Reproducibility when observing developmental
two schemes. One addresses development in change also requires defining specific mark-
terms of broad functional domains; this type of ers, or milestones, that can be generally agreed
scheme tends to emphasize adaptation to real-life upon and reliably reproduced. Much of the
situations (e.g., whether a child can get dressed, early work in defining a variety of milestones
walk to school, give a report, or play with friends was done by Arnold Gesell and his colleagues
at recess). The other scheme addresses the idea at Yale University in the early to mid-20th cen-
of specific skill sets. These skill sets tend to refer tury (Knobloch & Pasamanick, 1974). Gesell
to specific abilities that are easily observed and amassed an enormous amount of information
tested in children, such as speech (putting words regarding a wide range of skills and abilities in
various domains at different ages. He was able
Table 14.2. Defining developmental domains to gather from this a finite list of specific behav-
By functional Communication/socialization
iors that were easily observed and that emerged
domains Conversation skills during a relatively narrow range of ages. These
Literacy (reading and writing) items have become familiar components of
Social engagement many development screening and assessment
Activities of daily living instruments (Capute & Accardo, 2005; Squires
Dressing skills & Bricker, 2005).
Toileting skills
Feeding skills Milestones are useful, as referencing
Electronic/computer literacy particular milestones allows a description of
Mobility a child’s pattern of skills, and also provide a
Ambulatory skills means for tracking developmental progress.
By skill sets Language Milestones can become problematic, how-
Expressive language ever, if they are misapplied or misinterpreted.
Receptive language Although many milestones reflect intrinsically
Problem solving important functional accomplishments, others
Visual-spatial skills are not critically important in and of them-
Visual-motor skills
selves. For example, walking independently
Social and play
and speaking in sentences are intrinsically
Sensory
Vision important milestones, whereas stacking blocks
Hearing or placing a peg in a pegboard are useful prox-
Motor ies for other, more important skills (e.g., using
Fine motor utensils, writing with a pencil). Therapeutic
Gross motor interventions should not be directed toward
Oral motor
achieving milestones per se, but rather toward
Attention and impulse control
achieving meaningful functional goals that are
Academic
represented by milestones.
238 Pellegrino
Another pitfall in interpreting milestones of skills. For example, a child who begins walk-
is the mistaken notion that a particular mile- ing at 18 months of age is said to be “6 months
stone is associated with an exact age. Stating delayed” for developing that skill. In this sense
that children walk at a year of age is actually the developmental “gap” can be defined as the
providing only an estimate of that skill’s age of chronological age minus the developmental
onset. Based on a more precise, standardized age (in this case, 18 months − 12 months = 6
assessment of this milestone, a more exact state- months). It is often more useful, however, to
ment can be articulated (Figure 14.2). Accord- conceptualize development as a percentage of
ing to one assessment tool (Piper et al., 1994), expected attainment. In the previous example,
a small minority of children take their first the child would be said to be developing at
step between 8 and 9 months of age, 50% have about 67% of the expected rate for walking (12
taken their first step by 11 months of age, 75% months / 18 months × 100 = 67).
by about 12½ months of age, and 90% by 13½ Defining development spotlights the rate of
months of age. So a more precise statement development. Focusing on rate gives a clearer
would be “a majority of children start walking picture of developmental change over time. A
by 12 months of age” or “almost all typically child who is 6 months delayed at 18 months
developing children can walk by 14 months of (developing at 67% of the expected rate) has a
age.” Standardized measures of development more serious delay than a child who is 6 months
tend to use 75% of children achieving a mile- delayed at 4 years of age (developing at 88% of
stone as the typical age for that skill and use the the expected rate). Using rates of development
90% mark as the age beyond which a child is allows us to track and compare degrees of delay
said to be late or delayed in achieving that skill. across a range of ages. The rate of development
at any given moment in time can be estimated
Developmental Delay by calculating the developmental quotient,
Developmental delay is often described in terms which is defined as follows:
of how many months or years a child is behind Developmental quotient =
in the attainment of a particular milestone or set Developmental age / Chronological age × 100
Figure 14.2. Milestone: Early stepping. 50% of children take their first independent steps by 11 months; 90%
have achieved this milestone by 13.5 months. (From Piper, M.C., & Darrah, J. [1994]. Motor assessment of the
developing infant [p. 165]. Philadelphia, PA: W.B. Saunders; Copyright © 1994 Elsevier; adapted by permission.)
In practice, the developmental age usually evolution of skills over a sufficient interval of
represents an average level of attainment across time. This can be done by directly assessing
a variety of skills and domains, rather than an a child on multiple occasions or by eliciting
estimate of the level of attainment for a single historical information about a child’s develop-
skill, and chronological age may be adjusted for ment from an involved and observant care-
prematurity (e.g., the age of a child born at 28 giver, teacher, or therapist. Making diagnostic
weeks’ gestation, or 3 months early, would be or prognostic judgments based on a one-time
an adjusted chronological age of 15 months). direct observation of a child’s skills is often
Conceptualizing development as a rate phe- problematic; in contrast, following a child over
nomenon provides the basis for analyzing time leads to a clearer picture of the child’s
developmental trajectories and contributes to developmental trajectory. For example, if a
diagnostic and prognostic statements. child with delays gains 6 months of new skills at
Developmental rates are used to assess the 6-month reexamination, he or she is track-
differential patterns of function and behavior; ing at a typical rate and, although still delayed,
this in turn yields data useful to the diagnostic may well catch up over time. If that child gains
process. For example, recognizing that a child’s only 3 months, it would suggest that the delay
speech is developing at 50% of the expected may evolve into a disability.
rate, with age-appropriate development in all
other areas, suggests that the child may have a
DISTURBANCES IN DEVELOPMENT
specific language impairment. Rates also pro-
vide a key element in determining prognosis From a clinical perspective, developmental dis-
and outcome (Figure 14.3). If a child is develop- abilities are conditions that are first recognized
ing at a slower rate, over time he or she will tend as departures from expected patterns of devel-
to fall further and further behind other children opment during early childhood. These depar-
who are developing at a more typical rate. In tures can occur in three ways (Accardo, 2008).
order to “catch up,” a child with developmen- First, a child may experience delays. Delay
tal delays must show a significant acceleration refers simply to a slower-than-expected rate in
in the attainment of new skills. In general, the skills acquisition, usually defined with reference
slower a child’s rate of development (especially to widely accepted developmental milestones.
if the developmental quotient falls well below A child with delays demonstrates skills that are
50), the more difficult, and thus less likely, it is typical of a younger child.
for that child to catch up developmentally. Second, a child may deviate from an expected
In order to get a true picture of a child’s developmental path. In this case, a child demon-
development, it is necessary to describe the strates functional or behavioral characteristics
Figure 14.3. Developmental rates. If a child is developing at a slower than expected rate, compensatory
acceleration in acquisition of skills is necessary for the child to “catch up.”
240 Pellegrino
that are not typical for any child at any age. Chapter 21). Although some delays are evident,
Third, a child may demonstrate an uneven the most prominent features in Jake’s profile of
pattern of skills, progress being fairly typical in skills are those social and behavioral deviations
some areas (developmental domains) but show- from expected patterns that are not typical for
ing significant departure (delay or deviation) any child at any age.
from the expected course in other areas. This
unevenness phenomenon is referred to as dis- ■ ■ ■ sarah: the child
sociation. with dissociated development
The following examples illustrate delay,
divergence, and dissociation in development. Sarah is a 7-year-old who attends second grade
in a public school. She had some mild difficulties
BJ: The Child With with early speech development (mainly prob-
Delayed Development lems with pronouncing certain words), which
have since resolved. She was on time or early in
BJ, the 3-year-old described at the beginning
of this chapter, provides an example of global attaining and reaching all other skills and mile-
development delay, or delay that involves mul- stones. She was very successful in preschool,
tiple developmental domains. BJ exhibits a sig- being consistently described by her teachers as
nificantly delayed rate of development, and as exceptionally mature and intelligent. She began
his parents suggest, his current skills are most experiencing difficulties with reading decod-
consistent with those usually observed in chil- ing skills in first grade and was diagnosed with
dren between 18 and 20 months of age (this is dyslexia by the beginning of second grade. She
consistent with an estimated developmental quo- now receives resource room support for reading
tient of 53%). If he continues to develop at a per- and is doing better. She continues to excel in
sistently delayed rate, concern would be merited
other academic areas.
that his global delays represent an early manifes-
Sarah’s problems with reading stand out
tation of a long-term intellectual disability (i.e.,
against a background of well-developed social,
mental retardation; see Chapter 17).
cognitive, and academic skills. Other children
may have specific weakness in other academic
■ ■ ■ Jake: the child
or functional domains (e.g., children with spe-
with divergent development
cific difficulties in learning math or in the area
Jake is a 4-year-old with a history of difficulties of attention and impulse control). The uneven-
with language, communication, and socializa- ness in Sarah’s profile of skills is an example of
tion skills. He was slightly late in beginning to developmental dissociation. More complex pat-
terns of dissociation are frequently seen with
speak but was using complete sentences by
children who have a variety of academic and
3 years of age. Despite a large vocabulary and
functional difficulties; these are referred to col-
well-developed grammatical skills, Jake has lectively as learning disabilities (see Chapter 23).
trouble with social communication. He rarely These cases illustrate relatively pure exam-
uses speech to communicate wants and needs, ples of the three disturbances in development.
and instead prefers to drag people by the hand Most children with developmental problems are
to get their attention or to help him obtain a more complex, frequently exhibiting elements
desired object. Jake’s spontaneous speech con- of all three types of developmental disturbance.
sists mainly of repeated phrases from television Given this complexity, it can be challenging to
shows. He seems oblivious to the feelings of accurately analyze and describe the pattern of
others and tends to treat people as though they skills exhibited by a particular child, and more
challenging still to encapsulate this in diagnosis
were objects. Jake is obsessively interested in
form. In the process of assessing children with
letters and numbers and has poor imitative and
developmental difficulties, certain fairly consis-
pretend play skills. He can dress himself, was tent themes, constellations of behavioral char-
toilet-trained by 3 years of age, and recently acteristics, and patterns of skills emerge that
taught himself to ride a bicycle without training make specific diagnoses possible. A particular
wheels. developmental diagnosis, or developmental dis-
Although demonstrating age-appropriate ability, is defined by these recognizable patterns
skills in many areas, Jake displays a significant (see Table 14.3).
disturbance in communication, socialization, As a clinical concept, developmental disabil-
and play skills consistent with an ASD (see ity integrates what is known about typical and
Table 14.3. Patterns of development associated with specific developmental disabilities

Developmental diagnosis Delays Divergence Dissociation
Intellectual disability Significant early delays Atypical behavior Language skills tend to be
across developmental patterns (e.g., self- more severely affected
domains associated injurious behavior), than other areas
with long-term especially in severe or
dysfunction profound intellectual
disability
Cerebral palsy Significant delays in Significantly pathological Motor and mobility
motor skills and motor control, muscle dysfunction most
mobility tone, and involuntary prominent
motor responses in
some
Autism spectrum disorders Delays in language, play Prominent disturbances Relatively few difficulties
and basic social skills in social communica- with problem-solving,
common tion and socialization self-care and motor
skills; atypical play skills, in many
interests and behav-
ioral patterns
Communication disorders Delays in language skills Atypical communica- Relatively few difficulties
most prominent tion skills in some with nonlanguage skills
(pragmatic language
dysfunction)
Learning disability Delays and dysfunction Mildly atypical social and Prominent discrepancy
of specific aspects of behavioral charac- between areas of
learning (e.g., reading, teristics occasionally weakness and areas of
math, writing) observed strength
Attention-deficit/hyperac- Delayed/weak attention, Mildly atypical social and Prominent discrepancy
tivity disorder (ADHD) response inhibition, behavioral charac- between areas of
and executive function teristics occasionally weakness and areas of
observed strength
Hearing impairment Delays in language and Prominent, pathologi- Relatively few difficul-
communication skills cal disturbance in the ties with nonlanguage
of variable degree, hearing apparatus domains
related to severity and
timing of hearing loss
and type of interven-
tions
atypical development into a cogent diagnos- been the subject of intense scientific and philo-
tic framework and may be defined as follows: sophical debate. Developmental disabilities are
A developmental disability is a specific diagnos- clinically characterized as unexpected depar-
tic entity characterized by a disturbance in or tures from typical patterns of development.
departure from expected patterns of develop- Specific diagnoses are based on the recognition
ment that results in predictable patterns of of 1) patterns of disturbance within and among
impairment, functional limitation, and disad- specific developmental domains, and 2) the
vantage with regard to participation in real-life predictable functional consequences that arise
situations and settings. Section III of this book, from these disturbances. Developmental dis-
Developmental Disabilities, describes specific abilities are further understood with reference
forms of developmental disability in detail. to etiologic, social, cultural, therapeutic, and
legal considerations. Although understanding
of the complex nature of developmental dis-
SUMMARY abilities continues to improve, it is still far from
Human development is a complex phenomenon complete.
that may be operationally defined with respect to
the characteristic patterns of behavioral change REFERENCES
and functional adaptation that occur during Accardo, P.J. (Ed.). (2008). Capute & Accardo’s Neurode-
the course of the human life cycle. The precise velopmental disabilities in infancy and childhood (3rd ed.).
determinants of these behavioral changes have Baltimore, MD: Paul H. Brookes Publishing Co.
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American Academy of Pediatrics Task Force on Sud- to young adulthood. Annual Review of Psychology, 59,
den Infant Death Syndrome. (2005). The changing 451–475.
concept of sudden infant death syndrome: Diagnostic Simeonsson, R.J., Leonardi, M., Lollar, E., Bjorck-
coding shifts, controversies regarding the sleeping Akesson, E., Hollenweger, J., & Martinuzzi, A.
environment, and new variables to consider in reduc- (2003). Applying the International Classification of
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American Psychiatric Association. (2000). Diagnostic childhood disability. Disability and Rehabilitation,
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tion, Text Revised (DSM-IV-TR). Washington, DC: Spencer, J.P., Clearfield, M., Corbetta, D., Ulrich, B.,
American Psychiatric Association. Buchanan, P., & Schöner, G. (2006). Moving toward
Bronfenbrenner, U. (1979). The ecology of human devel- a grand theory of development: In memory of Esther
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Capute, A.J., & Accardo, P.J. (2005). The Capute Scales: Squires, J., & Bricker, D. (2005). Ages & Stages Question-
Cognitive adaptive test/clinical linguistic and auditory naires, Third Edition (ASQ-3). Baltimore, MD: Paul
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H. Brookes Publishing Co. United States Social Security Administration. (2011).
Individuals with Disabilities Education Improvement Social Security. Retrieved April 11, 2011, Government
Act (IDEA) of 2004, PL 108–446, 20 U.S. §§1400 Web site: http://www.ssa.gov/
et seq. Volpe, J. (Ed.). (1995). Neurology of the newborn (3rd ed.).
Knobloch, H., & Pasamanick, B. (Eds.). (1974). Gesell Philadelphia, PA: W.B. Saunders.
and Amatruda’s developmental diagnosis (3rd ed.). New Volpe, J. (Ed.). (2008). Neurology of the newborn (5th ed.).
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Kuhl, P.K. (2010). Brain mechanisms in early language Vygotsky, L. (1986). Thought and language (A. Kozulin,
acquisition. Neuron, 67(5), 713–727. Trans.). Cambridge, MA: The MIT Press.
Majnemer, A., & Barr, R.G. (2006). Association between World Health Organization. (2001). ICF Browser.
sleep position and early motor development. Journal Retrieved April 11, 2011, from Health Web site:
of Pediatrics, 149(5), 623–629. http://apps.who.int/classifications/icfbrowser/
National Institutes of Health. (1993). Research plan for World Health Organization. (2001). International Clas-
the National Center for Medical Rehabilitation Research. sification of Functioning, Disability and Health (ICF).
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Author. http://www.who.int/classifications/icf/en/
Piaget, J. (1990). The child’s conception of the world. New World Health Organization. (2007). International Clas-
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The education of dyslexic children from childhood apps/icd/icd10online/
15 Diagnosing
Developmental
Disabilities
Scott M. Myers

■ Recognize the major streams of development and their role in defining the
spectrum and continuum of developmental disabilities
■ Understand atypical patterns of development including delay, dissociation,
deviance, and regression and their role in developmental diagnosis
■ Be familiar with the components of the developmental diagnostic evaluation
and how they contribute to the diagnostic formulation
Children typically present for developmental available in other chapters in this volume and in
diagnostic evaluation because of concerns about other current textbooks in the field (e.g., Acca-
not attaining cognitive, motor, or social/adaptive rdo, 2008; Carey, Crocker, Coleman, Elias, &
milestones, or about the presence of aberrant Feldman, 2009; Voigt, Macias, & Myers, 2011;
behaviors. These concerns may be raised sponta- Wolraich, Drotar, Dworkin, & Perrin, 2008).
neously by parents or other caregivers, or may be The focus is on developmental disabilities
elicited by health care providers through devel- caused by brain dysfunction, rather than those
opmental surveillance and screening (American caused by sensory deficits such as blindness or
Academy of Pediatrics Council on Children with deafness, orthopedic impairments, or disorders
Disabilities et al., 2006). The diagnostic process of the spinal cord, peripheral nervous system,
enables the clinician to begin to answer the four or muscle.
fundamental questions that most parents have
when they seek evaluation: 1) What is wrong ■ ■ ■ NOAH
with my child? (diagnosis), 2) What is going to Before his second birthday, Noah’s parents and
happen to my child? (natural history/progno- pediatrician had concerns about delayed gross
sis), 3) What can be done to improve my child’s
motor and speech milestones, which were initially
condition? (treatment), and 4) What caused my
attributed to his frequent ear and sinus infections.
child’s condition? (etiology).
In this chapter, general principles and pro- They were disappointed when his speech did not
cesses involved in diagnosis of developmental improve dramatically after placement of tympa-
disabilities are reviewed. Details about each nostomy tubes at 23 months of age. Neurode-
of the specific disabilities and procedures such velopmental assessment at 28 months of age
as developmental or psychological testing are revealed significant global developmental delay,
243
244 Myers
mild hypotonia, and neurobehavioral abnormali- heritable epigenetic modifications that make
ties including motor stereotypy, insomnia, and up an individual’s biological endowment, and
self-injurious behavior. He was short in stature 2) experiential influences that either affect neu-
and was noted to have minor dysmorphic fea- rodevelopment beneficially (e.g., environmen-
tures and a gruff voice. His family was guided tal enrichment) or deleteriously (e.g., traumatic
to early intervention services, including habilita- or hypoxic-ischemic brain insults or environ-
mental deprivation) during sensitive periods of
tive therapies and behavioral intervention, which
neuromaturation (Wang, 2011). The complex,
proved very helpful. Noah continued to make
dynamic processes that make up child develop-
developmental progress at about 50% of the ment can be described clinically by quantifiable
typical rate and the global developmental delay milestones and qualitative features and can be
diagnosis was refined to moderate intellectual divided into three primary “streams” of devel-
disability by the time he entered elementary opment: motor, cognitive, and neurobehav-
school, where he thrived with special education ioral. Each of the three primary streams can be
supports and was known for his outgoing per- broken down into narrower streams of devel-
sonality, sense of humor, and tendency to cross opment which can be assessed independently
his arms and squeeze as if hugging himself when (Table 15.1). The motor stream includes gross
happy or excited. and fine motor skills as well as oral motor func-
tion (chewing, swallowing, and motor aspects
At the time of his initial diagnostic evalu-
of speech). The cognitive or central process-
ation, several genetic syndromes were in the
ing stream includes receptive and expressive
differential diagnosis, and chromosomal micro- language abilities and nonlanguage cogni-
array analysis revealed a 17p11.2 microdeletion, tion (problem-solving). The neurobehavioral
confirming that the etiology of Noah’s devel- stream includes fundamental aspects of social
opmental disability was Smith-Magenis syn- and emotional behavior, self-regulation, and
drome (SMS; see Appendix B). His parents were mental status such as development of reciprocal
relieved to learn that this was a de novo (new) social interaction, impulse control, attention,
microdeletion (see Chapter 1), so the chance an appropriately varied repertoire of interests
that their subsequent children would have SMS and activities, and adaptive regulation of mood
was less than 1%. His family became very active and anxiety.
in a support group and found it very helpful to
meet other children and families affected by Atypical Patterns
SMS. Because the cause of his intellectual dis- of Development
ability was known, his pediatrician was able to
Based on careful study of the development
assess and monitor him closely for associated
of thousands of infants and children, Gesell
medical problems, leading to the additional observed that typical development is methodical,
diagnosis of myopia and later hypercholester- orderly (sequential), timed, and therefore largely
olemia (elevated cholesterol levels in blood). In predictable (Gesell & Amatruda, 1947). This
the preschool period, he developed insomnia
characterized by markedly fragmented sleep, Table 15.1. Streams of development
and challenging behaviors such as tantrums,
Motor
self-injury, and aggression became more promi-
Gross motor
nent. His sleep problems and daytime behavior
Fine motor
improved substantially when he was treated
Oral motor
with a beta-blocker in the morning and mela-
tonin at night, based on the known abnormal Cognitive (or central processing)
pattern of melatonin secretion associated with Language
SMS and the reported efficacy of this treatment Receptive
in other affected individuals. Expressive
Problem-solving/nonlanguage cognition
DEVELOPMENTAL PRINCIPLES Neurobehavioral
Development is an end product of neural func- Social behavior

tion that unfolds over time as a result of 1) innate Adaptive emotional behavior, self-regulation, and
mental status
factors determined by the DNA sequence and
Diagnosing Developmental Disabilities 245
principle is the basis for using developmental are maintained, but there is asynchrony, result-
milestones and tests as markers of neuromatu- ing in one or more areas of development being
ration. Independent assessment of skills within significantly out of phase with other areas. By
each stream of development facilitates recogni- convention, a developmental quotient or rate
tion of patterns of atypical development. The discrepancy of greater than 15 percentage
terms delay, dissociation, and deviance describe points between two major areas of development
variations in the attainment of developmental is typically considered to represent dissociation
milestones as manifestations of underlying brain in infants or young children. In older children,
dysfunction, and analysis of these three types of a discrepancy of more than 1 or 1.5 standard
variation is helpful in distinguishing among diag- deviations on standardized measures tradition-
nostic possibilities (Accardo, Accardo, & Capute, ally defines a significant discrepancy between
2008; see Chapter 14). academic achievement and intellectual ability
Developmental delay refers to a significant lag (American Psychiatric Association, 2000; Shay-
in the attainment of milestones in one or more witz, Morris, & Shaywitz, 2008).
areas of development; milestones are attained in Developmental deviance refers to non-
the typical sequence, but at a slower rate. Tradi- sequential unevenness in the achievement
tionally, a delay of ≥ 25% in the rate of develop- of milestones within one or more streams of
ment, or performance that is 1.5 to 2 standard development. This phenomenon is typically
deviations or more below the norm, has been described qualitatively, rather than as a rate,
considered to be significant. The developmental quotient, or standard score. Typical devel-
quotient (DQ) is a useful means of quantifying opmental sequences are not maintained, and
development within a stream as a percentage deviance is intrinsically abnormal. Whereas
of normal. The DQ is therefore a ratio; that is, children exhibiting delay and dissociation attain
the child’s developmental age (DA) in a partic- milestones in a manner that would be expected
ular area of development divided by his or her for a younger typically developing child, devi-
chronological age (CA) and multiplied by 100 ance is not typical for any age.
to yield a percentage (DQ = DA/CA × 100). The term global developmental delay (GDD),
For example, a 20-month-old child whose gross although not a diagnosis that appears in widely
motor skills are at the level expected of a typi- utilized classification systems (Wolraich &
cally developing 12 month old has a DQ in the Drotar, 2008), has been defined in the litera-
motor stream of 12/20 × 100 = 60. This child ture as significant delays in two or more of the
can thus be said to be exhibiting a 40% delay following domains: gross motor/fine motor,
in gross motor development or to be progress- speech/language, cognition, social/personal,
ing at 60% of the typical rate within the gross and activities of daily living (ADL; Riou,
motor stream. The functional developmental Ghosh, Francoeur & Shevell, 2009; Shevell et
age equivalent (developmental age) is deter- al., 2003). According to this definition, a child
mined based on normal milestones in a par- with cerebral palsy causing isolated motor
ticular area of development, using tables of delay and secondary difficulty with ADL and
normal milestones that are available in textbooks an infant exhibiting 25% delays in expressive
(Accardo, 2008) and review articles (Gerber, language and gross motor skills (with average
Wilks, & Erdie-Lalena, 2010; Wilks, Gerber, & receptive language and problem-solving abili-
Erdie-Lalena, 2010) or assessment instruments ties) would both be considered to have GDD.
that yield age equivalents in different streams of The assumption that having delays in any two
development, such as the Capute Scales (Cogni- domains is equivalent to having general intel-
tive Adaptive Test/Clinical Linguistic and Audi- lectual delay is inherently problematic, and
tory Milestone Scale; CAT/CLAMS; Accardo Riou and colleagues (2009) demonstrated that
& Capute, 2005), Parents Evaluation of Devel- 73% of a group of preschoolers had IQ greater
opmental Status: Developmental Milestones than 70 despite concurrent GDD using this
(PEDS:DM; Brothers et al., 2008), and Child definition, and 20% had average intelligence.
Development Inventory (CDI; Ireton, 1992). In the alternate definition of global develop-
Developmental dissociation refers to a signifi- mental delay, the term is restricted to children
cant difference in developmental rates between with significant delays in both language and
two of the major areas of development: gross cognition (problem solving) accompanied by
motor, fine motor, problem-solving, expres- deficits in adaptive behavior (activities of daily
sive language, receptive language, and social/ living). This definition more closely approxi-
adaptive. Typical sequences of development mates applying the concept of intellectual
246 Myers
disability to children who may be too young not use words to make requests, does not say
to obtain a valid and reliable IQ measurement. “mama” or “dada,” and still engages in imma-
In these children, continued development at ture jargoning is exhibiting significantly devi-
the same trajectory would predict function- ant language development. Strong rote memory
ing within the intellectual disability range. Of skills accompanied by weak comprehension and
course, this does not mean that all children with pragmatic (social) language skills may contrib-
GDD will ultimately have intellectual disability ute to this deviant profile, which may suggest
because developmental trajectories may change, the presence of an ASD (Myers & Challman,
but the greater the degree of global develop- 2011). Most individually administered standard-
mental delay, the higher the predictive validity ized psychometric tests include items that are
of an early childhood diagnosis (VanderVeer & arranged hierarchically, so in order to be able to
Schweid, 1974). There is general agreement administer only the appropriate portion of the
that GDD should only be used as a diagnostic test to a particular child, a “basal” and a “ceiling”
label until the child is old enough for evaluators must be established. This means that the child
to confidently make a more specific diagnosis, must answer a certain number of consecutive
such as intellectual disability. items correctly to establish a basal, and the test is
Once specific areas of delay have been stopped when the child answers a certain number
identified, the concept of dissociation becomes of consecutive items incorrectly (ceiling). Devel-
particularly important in defining and distin- opmental deviance, especially in older children
guishing among the various developmental dis- with learning disorders, may be suggested by
ability diagnoses (Table 15.2). Mixed receptive a much wider than average number of items
and expressive language disorders, for example, between the basal and the ceiling on a particular
are defined by language development that is test or subtest, or even the presence of “double
delayed and dissociated from other streams basals” or “double ceilings” because of tending
of development, especially problem solving/ to pass more advanced items in the hierarchy
nonlanguage cognition. In the case of expres- while failing easier items (Accardo et al., 2008).
sive language disorders, there is dissociation Dysarthria, which is a motor speech disorder
between the expressive and receptive com- that is the result of paralysis, muscle weakness,
ponents of the language stream; expressive or poor coordination, is intrinsically qualitatively
language development is delayed but recep- abnormal and may also be considered to be an
tive language and nonlanguage cognition are example of developmental deviance.
intact. Specific learning disabilities are also Another phenomenon that may be detected
determined by dissociation, or discrepancy; by history-taking or serial assessments is devel-
academic difficulty in a specific area (e.g., read- opmental regression, which is the loss of previ-
ing, mathematics, or written expression) is ously attained milestones. A child who has truly
unexpected because the child appears to have regressed developmentally is no longer capa-
all of the factors (i.e., intelligence, motivation, ble of performing previously mastered skills.
and exposure to reasonable instruction) present Loss of language and/or social skills occurs in
to achieve but continues to struggle (Shaywitz a substantial minority of young children with
et al., 2008). In this case, the discrepancy is ASDs (16%–41%), typically between 15 and 24
between academic achievement and intellectual months of age, and may occur following typi-
ability or between actual and expected response cal development but is more commonly super-
to intervention (Fuchs & Fuchs, 2006; Shaywitz imposed on preexisting atypical development
et al., 2008). Absolute developmental delay does (Baird et al., 2008; Meilleur & Fombonne,
not have to be present for dissociation to be sig- 2009). This type of regression is not unique to
nificant since, for example, a child with an IQ of children with ASDs, although it appears to be
125 whose standard scores on measures of vari- most frequent in this population (Baird et al.,
ous aspects of reading achievement are 85–90 2008). Rare conditions such as acquired epi-
could certainly have a specific reading disability. leptic aphasia (Landau-Kleffner syndrome) and
Developmental deviance may present in childhood disintegrative disorder are character-
young children as failure to accomplish simple ized by loss of language skills, which can also
tasks or skills in a given developmental sequence occur occasionally in children with intellec-
while passing more difficult items. For example, tual disabilities, language disorders, congenital
a 2-year-old child who can use single words to blindness, or acquired or progressive hearing
label more than 50 different objects or pictures loss (Rogers, 2004). Global regression involv-
and correctly identify colors and shapes yet does ing language, motor, and cognitive skills may
Table 15.2. Key defining areas of relative impairment in selected developmental disabilities
Specific Mixed receptive Expressive

Intellectual Cerebral Autistic Asperger
learning Dysarthria and expressive language ADHD
disability palsy disorder disorder
disabilities language disorder disorder
Motor
Gross X
Fine X
Oral X
Language
Expressive X X X X
Receptive X X X
Pragmatic X X
Problem-solving/ non-
X
language cognition
Academic achievement X
Adaptive behavior (self-

X
care)
Social reciprocity X X
Attention, impulse
control, regulation of
activity level (relative X
to developmental
level)
Key: X signifies relative delay or impairment present by definition; ADHD, attention-deficit/hyperactivity disorder.
247
248 Myers
indicate the presence of certain inborn errors Within each group of disorders, there also
of metabolism, neurogenetic disorders, brain exists a spectrum of severity and prevalence.
tumor, or subclinical seizures. Global regres- These conditions range from high prevalence,
sion always warrants investigation. low-severity conditions such as dyslexia/specific
Specific types of isolated regression in reading disability, developmental coordination
motor skills, such as deterioration in gait in disorder (DCD), and attention-deficit/hyper-
someone with a known disability, may be activity disorder (ADHD), to low-prevalence,
explained by the history and physical exam and high-severity conditions such as intellectual
warrant further evaluation and/or treatment. disability and cerebral palsy (Accardo et al.,
For example, deterioration in gait in a child 2008; Voigt, 2011). Severity is determined by
or adolescent with spastic diplegia (a form of the degree of developmental delay, dissociation,
cerebral palsy) may be due to the mechanics of and/or deviancy and, as with most other pathol-
linear growth and weight gain in the setting of ogy, the milder forms are more common than
abnormal tone and the development of contrac- the most severe forms.
tures requiring medical or surgical interven- In contrast to focal neurologic deficits that
tion. Similar deterioration in gait accompanied occur in the mature nervous system as a result
by increasing spasticity in the legs, change in of insults such as cerebrovascular accidents,
bowel and bladder function, and progressive developmental brain dysfunction tends to be
scoliosis in a patient with spina bifida would diffuse, resulting in observable manifestations
prompt evaluation for tethering or syrinx of the in cognitive, motor, and neurobehavioral func-
spinal cord (see Chapter 25). tioning (Figure 15.1). Clinical neurodevelop-
mental disability syndromes may be primarily
Spectrum and Continuum cognitive (e.g., intellectual disability, language
disorder, learning disability), motor (e.g., cere-
of Developmental Disabilities
bral palsy, DCD), or neurobehavioral (e.g.,
The various developmental disorders that result ASD, ADHD) conditions, but careful examina-
from neurologically based abnormalities in cog- tion typically reveals additional impairments in
nitive, motor, and neurobehavioral function the other streams of development. In fact, the
have been referred to as the spectrum of devel- presence of additional impairments or coexist-
opmental disabilities (Accardo et al., 2008). ing (comorbid) disorders is the rule rather than
motor development cognitive

• gross motor development
• fine motor • language
• problem-solving
brain
dysfunction
neurobehavioral development
• social behavior
• adaptive emotional behavior and mental status
Figure 15.1. Adaptation of Capute’s triangle: Developmental brain dysfunction impacts all three
major streams of development. (Source: Capute, 1991.)
the exception. This concept is referred to as the prominent enough to meet diagnostic criteria
continuum of developmental disabilities. for one or more other disorders such as specific
The epidemiology of developmental dis- learning disability, developmental coordina-
abilities supports the concept of a continuum tion disorder, Tourette syndrome, obsessive-
across streams of development, as essentially all compulsive disorder, or oppositional-defiant
developmental disorders co-occur with other disorder (additional visible tips of the iceberg).
developmental disorders much more frequently Other symptoms may remain subthreshold in
than expected by chance. For example, data from terms of additional diagnoses but may still be
population-based epidemiologic studies suggest important to address when planning treatment.
that 31%–65% of children with cerebral palsy Comorbidity among developmental disorders is
(CP) also have an IQ less than 70 (Pakula, Van primarily due to the diffuse nature of the under-
Naarden Braun, & Yeargin-Alsopp, 2009). Even lying brain dysfunction, which is often genetic
among those individuals with CP but without in origin, although environment and experience
intellectual disability, the prevalence of below- may be important modifiers of this effect. For
average IQ, learning disabilities, speech and example, studies of twins have shown that read-
language disorders, and ADHD is high (Odd- ing disorder (RD), math disorder (MD), and
ing, Roebroeck, & Stam, 2006). Data from the ADHD are familial and heritable and that the
Metropolitan Atlanta Developmental Disability etiology of the co-morbidity between RD and
Surveillance Program (2006) indicate that 9% MD (28%–64%), RD and ADHD (10%–40%),
of 8-year-old children with CP also had an ASD and MD and ADHD (12%–36%) is primarily
diagnosis (Pakula et al., 2009). Insults causing explained by common genetic influences (Will-
brain dysfunction severe enough to result in cutt et al., 2010). A genetic abnormality may
CP also increase the risk of other neurological result in different phenotypes due to incom-
and sensory dysfunction; also increased in this plete penetrance, variable expressivity, or inter-
population are rates of epilepsy (20%–46%), actions between genes and the environment. A
visual impairment (2%–19%), and hearing gene/environment (G × E) interaction is said to
impairment (2%–6%) (Pakula et al., 2009). In occur if environmental circumstances modify
addition, the neuromotor impairment associ- the expression of an individual’s genetic back-
ated with CP often leads to secondary associ- ground, either strengthening or weakening the
ated conditions, such as orthopedic deformities, phenotype. Significant G × E interactions have
chronic constipation, gastroesophageal reflux, been described in psychiatric conditions such as
malnutrition, poor growth, osteopenia, and conduct disorder and depression and are being
skin breakdown (see Chapter 24). explored in developmental disabilities such as
The developmental profile can be con- ADHD and ASD (Willcutt et al., 2010).
ceptualized as an iceberg, with one or more
visible tips representing the defining features
DIAGNOSTIC CLASSIFICATION
of the primary diagnoses, and the submerged
portion representing the larger continuum of Diagnostic labels, whether disease names that
manifestations of underlying brain dysfunc- imply a known etiology or pathophysiology or
tion (Accardo et al., 2008). For example, a child disorder names that are defined by clusters of
with ADHD by definition exhibits symptoms attributes or symptoms less closely related to a
of inattention and/or hyperactivity/impulsivity single cause, are the usual means by which cli-
that are inappropriate for age and develop- nicians access the relevant medical literature to
mental level, and interfere significantly with guide management decisions and communicate
functioning. However, the ADHD symptoms about conditions with patients, families, and
(tip of the iceberg) are usually accompanied by colleagues. Diagnostic classification is impor-
other signs and symptoms below the surface, tant not only for treatment planning, prognos-
such as motor coordination deficits, tics, neuro- tication, and other aspects of clinical care for
logic “subtle” or “soft” signs on exam, learning an individual patient, but also for etiologic and
deficits, pragmatic language impairment, social outcomes research and societal allocation of
skills deficits, sleep problems, obsessive and/ resources (Table 15.3).
or compulsive behaviors, anxiety, depressed or In most branches of medicine, systematic
irritable mood, and disruptive behaviors. These classification systems based on etiology and
are manifestations of the underlying mild brain pathophysiology predominate; conditions are
dysfunction and its interaction with environ- differentiated first by cause (e.g., infectious,
mental influences/experiences. Often, some of genetic, neoplastic, autoimmune, traumatic)
these symptoms of neurological dysfunction are and second by how these processes disturb
250 Myers
Table 15.3. Importance of diagnostic classification cases. Copy number variants (microdeletions
Clinical care or microduplications) at 16p11.2, for example,
have been identified in 1% of individuals with
Parent/caregiver education
ASDs, but also in 1.5% of individuals with
Treatment planning
unexplained intellectual disability (Weiss et al.,
Etiologic investigation
2008; McCarthy et al., 2009). In addition, the
Identification of associated deficits
16p11.2 microduplication has been associated
Genetic counseling
with schizophrenia. In fact, at least 7 recur-
Prognostication
rent, pathogenic copy number variants are now
Reimbursement
known to be associated with autism or intel-
Research lectual disability and also with schizophrenia
Epidemiology (Moreno-De-Luca et al., 2010).
Etiology
Natural history Levels of Diagnosis
Treatment efficacy/outcomes Disorders of development and behavior can be
Societal resource allocation
described at three different levels, each of which
has clinical significance (Figure 15.2; Table
Planning, funding, and distribution of services and 15.4). This conceptualization is shown in Fig-
supports
ure 15.2 as an inverted triangle, with the broad
Identification and correction of gaps in knowledge
and service delivery
first level (specific impairments) at the top, nar-
Training of health care and other professionals
rower second level (categorical diagnoses) in
Education and prevention efforts
the middle, and very narrow third level (etio-
Research funding
logic diagnosis) at the bottom. An individual
patient may have many specific impairments or
symptoms which identify a smaller number of
organ structure and function (e.g., pneumo- categorical disorders or symptom-cluster syn-
nia, skeletal dysplasia, leukemia, hepatitis, dromes that are due to one underlying etiology
brain injury). In developmental medicine and or a very small number of distinct etiologies.
psychiatry, however, conditions are described
Specific Impairments
primarily phenomenologically as disorders or
symptom-cluster syndromes rather than as The first level of diagnosis, which is descrip-
diseases with known causes. While a definitive tive and may not be traditionally thought of
etiologic diagnosis can be made in a subset of as representing a diagnosis at all, is the level
individuals with any developmental disorder, of identifying and labeling pertinent signs and
there is not a 1:1 correspondence between symptoms as specific impairments or deficits. In
developmental disorder diagnosis and etiologic addition to being a prerequisite for formulating
diagnosis. Most developmental disorders can categorical diagnoses (disorders or symptom-
have many different causes, and most etiologic cluster syndromes), delineation of functionally
diagnoses can result in a variety of different impairing symptoms is essential for treatment
clinical disorders. planning, since educational, behavioral, and
Autistic disorder, for example, is defined psychopharmacologic interventions most often
clinically by early childhood onset of a cluster of address these specific impairments rather than
symptoms that include qualitative impairment in the categorical diagnostic classification or etio-
reciprocal social interaction, deficits in commu- logic diagnosis (Myers, Johnson, & the Coun-
nication, and a restricted, repetitive repertoire cil on Children with Disabilities, 2007). Even
of interests and behaviors (Myers & Chall- psychopharmacologic treatments are some-
man, 2011; see Chapter 21). In 15%–20% of times determined more by the specific impair-
individuals, a specific etiology (usually genetic) ments or target symptoms than by categorical
can be identified; the remaining 80%–85% or etiologic diagnoses. The traditional psychi-
of cases are currently considered to be idio- atric model of psychopharmacologic decision
pathic (Abrahams & Geschwind, 2008). Many making involves first making the diagnosis of a
different defined genetic syndromes, mutations, specific disorder, such as ADHD or depression,
and de novo or inherited copy number vari- and then choosing a medication based on that
ants (see Chapter 1) have been shown to cause diagnosis. However, because symptoms exist
autistic disorder, but no individual genetic on a continuum and occur across different dis-
disorder accounts for more than 1%–2% of orders, and modifications of diagnostic criteria
Levels Examples
Academic underachievement, communication

Specific impairments deficits, impulsivity, inattention, hyperactivity, poor
social skills, repetitive behaviors, spasticity, subav-
erage intellectual functioning
Disorder of symptom- ADHD, autistic disorder, cerebral palsy,

cluster syndrome developmental coordination disorder, intellectual
(categorical disability, language disorder, specific learning
diagnosis) disability, Tourette syndrome
Etiologic Down syndrome (trisomy 21), Fragile X syndrome,

diagnosis intraventricular hemorrhage with periventricular
leukomalacia, neurofibromatosis, Rett syndrome
(with MECP2 mutation), various microdeletion and
microduplication syndromes
Figure 15.2. Levels of diagnosis. (Key: ADHD, attention-deficit/hyperactivity disorder.)
are necessary in order to apply many psychiatric diagnostic classification systems. Identifica-
diagnoses to individuals with more severe dis- tion of the categorical diagnoses is important
abilities, the value of categorical distinctions for guiding treatment, identifying associated
in selecting pharmacologic treatment is often problems, providing a prognosis, and commu-
unclear. Therefore, a target-symptom approach nicating information to patients, families, and
is often the most appropriate treatment strategy treatment providers including educators, habil-
(Bostic & Rho, 2006; Myers, 2007). itative therapists, psychologists, and healthcare
In addition to considering impairments providers. Epidemiologic information is also
that are intrinsic to the individual, it is impor- most often collected at this level of diagno-
tant to also consider the child’s abilities and the sis, and this information can be used to guide
practical impact of environmental, early expe- resource allocation.
riential, and societal factors. The International
Classification of Functioning, Disability, and Etiologic Diagnosis
Health for Children and Youth (ICF-CY) clas- The third level of diagnosis, the etiologic diag-
sification system focuses on impairment and nosis, involves identifying the specific underly-
enablement in body structures and functions, ing cause of the developmental disorder, which
activities, and participation/involvement as well may be genetic, metabolic, teratogenic, infec-
as the influences of environmental and personal tious, hypoxic-ischemic, traumatic, a combina-
factors, which would be described at this level tion of more than one of these, or unknown/
of diagnosis (Msall & Msall, 2008; Wolraich idiopathic. This etiologic level of diagnosis
and Drotar, 2008). currently can be determined in only a minority
of individuals with brain-based developmental
Categorical Diagnoses: disabilities but much more commonly in those
Disorders, Symptom-Cluster Syndromes with disorders of the spinal cord, peripheral ner-
The second level of diagnosis involves recogniz- vous system, or sensory deficits (such as blind-
ing patterns of specific impairments as disorders ness or deafness). In general, the more severe
or clusters of symptoms that represent clinical the brain-based developmental disability, the
syndromes (e.g., ADHD, autism, intellectual more likely a specific etiologic diagnosis can be
disability, mixed receptive-expressive language identified. For example, among individuals with
disorder), and categorizing them as such. This intellectual disability, a specific etiology is much
is the primary way that developmental disability more likely to be determined if the cognitive
diagnoses are classified using the World Health impairment is severe (defined as IQ under 50)
Organization ICD-10 (1992) and American than if it is mild (e.g., 43% versus 13% in a met-
Psychiatric Association DSM-IV-TR (2000) ropolitan Atlanta cohort), but the vast majority
252 Myers
Table 15.4. Significance of each level of diagnosis
Importance
Treatment Identification
Genetic of associated Prognosti- Resource
Behavioral, Psychophar- counseling medical cation allocation
Level of diagnosis Educational macologic problems
Specific impairments ++ ++ – –/+ +/++ +
Disorder of
symptom-cluster
syndrome + + + + ++ ++
(categorical
diagnoses)
Etiologic diagnosis – –/+* ++ ++ + –/+
Key: – minimal or no importance, + important, ++ very important

* emerging importance (may become very important with future advances)
of people with intellectual disability have an IQ be provided if the diagnosis is made early (see
above 50 (Yeargin-Allsopp et al., 1997). Chapter 19).
The etiologic diagnosis is important, espe- All of these important aspects of medi-
cially in the case of genetic disorders for which cal management are more closely linked to
accurate counseling regarding recurrence risk etiologic diagnosis than to categorical (level 2)
can be provided and, in some cases, associated diagnoses or specific impairments (Table 15.4).
medical problems can be identified as a result of Discoveries about the neurobiology of genetic
their known association with the genetic abnor- neurodevelopmental disorders have led to phar-
mality. For example, a patient who is found to macological interventions to improve cognitive
have a 22q11.2 deletion (velocardiofacial syn- function in animal models of various disorders,
drome; see Appendix B) as the cause of his intel- and with recent clinical drug trials in humans
lectual disability or ASD is at increased risk for with fragile X syndrome, we have entered the
cardiac, palatal, immune, and renal anomalies era of neuroscience-driven pharmacotherapy
as well as psychiatric disorders, and there is a that depends on the etiologic diagnosis rather
6%–10% chance that one of his parents has than the disorder- or symptom-level diagnosis
the deletion (McDonald-McGinn & Sullivan, (Levenga, de Vrij, Oostra, & Willemsen, 2010;
2011). If a parent is affected, he or she has a Wetmore & Garner, 2010).
50% chance of passing the deletion to each of
his or her children. THE DIAGNOSTIC PROCESS
The value of determining an etiologic
diagnosis is not limited to genetic disorders Similar to other areas of medicine, the diagnos-
that directly affect neurological function, and tic process in developmental medicine consists
genetic tests are not the only valuable stud- of taking a history, examining the patient, gen-
ies. For example, brain imaging may reveal an erating a differential diagnosis, planning tests
infarct as the cause of a young child’s hemiple- and investigations, formulating a provisional or
gia. This would prompt further evaluation that definitive diagnosis, and developing a manage-
might identify a genetic coagulopathy (clotting ment plan. However, in developmental medi-
disorder such as Factor V Leiden thrombo- cine the examination of the patient includes
philia) for which additional treatment, stroke developmental and/or psychoeducational test-
recurrence risk counseling, and family genetic ing as an extension of the neurologic exam.
counseling are available. An infant with congen- In addition, there are essentially two levels of
ital cytomegalovirus (CMV) infection requires differential diagnosis: one addressing the cat-
serial assessments for hearing loss, which may egorical diagnosis (e.g., intellectual disability or
be delayed in onset and/or progressive. In the autistic disorder) and the other addressing the
case of certain inborn errors of metabolism, etiologic diagnosis (e.g., a chromosomal micro-
neuroprotective or even curative treatment can deletion or fragile X syndrome). Laboratory
tests and other investigations such as neuroim- 4. Determination of categorical diagnoses,

aging and neurophysiologic studies primarily most often using current criteria from Diag-
address the etiologic differential diagnosis or nostic and Statistical Manual of Mental Dis-
medical conditions that may be associated with orders (DSM-IV-TR; American Psychiatric
Association, 2000) or International Classifi-
the categorical diagnosis.
cation of Diseases (ICD-10; World Health
The diagnostic evaluation format will Organization, 1992), although the diagnos-
vary depending on the availability of local tician is not limited to these classification
resources and clinician preferences. One systems.
approach involves employing an interdisci-
plinary or multidisciplinary team specializing 5. Consideration of etiologic possibilities and
in developmental disabilities. This includes determination of appropriate investigations
individuals from a variety of disciplines includ- to evaluate these etiologic possibilities and/or
ing psychology, speech-language pathology, associated medical conditions.
occupational therapy, physical therapy, special
education, social work, audiology, and vari- Many clinicians choose to gather some
ous medical subspecialties. Alternatively, the historical information in advance by having
diagnostic evaluation may be conducted by an parents complete medical, developmental, and
individual clinician-specialist who is capable family history questionnaires, which allows
of interpreting and integrating information consultation time to be used for more focused
from various disciplines and comfortable with questioning. This process may also increase the
making developmental diagnoses even if there accuracy of historical information because it
is not an interdisciplinary team that meets gives families the opportunity to reflect on the
in-person. Most often, this is a neurodevel- questions without pressure or time constraints,
opmental pediatrician, developmental-behav- review milestones in baby books or journals,
ioral pediatrician, pediatric psychologist, and ask relatives about family history. In some
child and adolescent psychiatrist, or pediatric practice models, the diagnostic process involves
neurologist. The diagnostic evaluation should more than one office visit.
incorporate the following elements (Myers &
Challman, 2011, p. 268): Chief Complaint
1. Caregiver interview, with thorough medical
and Age of Presentation
history and review of systems, developmen- In all branches of medicine, the physician
tal and behavioral history, social history, and
starts the diagnostic process by asking about
family history.
the presenting symptoms and concerns, or
2. Review of pertinent medical and educational “chief complaint.” In the field of developmen-
records, including any available standardized tal disabilities, the age of presentation/refer-
testing done by early intervention evaluators, ral to the developmental specialist is closely
psychologists, speech-language pathologists, tied to the nature of the chief complaint and
occupational therapists, physical therapists, developmental diagnosis (Lock, Shapiro, Ross,
and special educators. & Capute, 1986; Shapiro & Gwynn, 2008).
3. Direct clinical assessment, including physi-
Although caregivers may detect severe hearing
cal examination (with an emphasis on the or vision impairment in infants at 3–6 months
neurologic examination and dysmorpho- of age based on a lack of appropriate response
logic evaluation), developmental and/or psy- to sounds or visual tracking, concerns arising
chological testing (appropriate for age and in the first 6 months of life are usually based
level of ability), and neurobehavioral exami- not on developmental delays but on medical
nation. In the case of team evaluations, the risk factors. These include major congeni-
developmental or psychoeducational testing tal anomalies, obvious dysmorphic features,
is often completed by someone other than failed newborn hearing screening, or known
the physician. In some cases, even a physi-
central nervous system insults such as severe
cian diagnostician who is working indepen-
dently will review and interpret the results
intraventricular hemorrhage or hypoxic-isch-
of current standardized testing performed emic encephalopathy. Physiologic instability
by professionals in other disciplines in resulting from frequent seizures, feeding dys-
lieu of directly administering tests her- or function, or poor weight gain may also trigger
himself. concerns about development in early infancy.
254 Myers
Concerns presenting at 6–18 months of age learning disorders or disabilities are primarily
are most often related to delayed attainment diagnosed in school-age children or adoles-
of gross motor milestones, and common diag- cents with ADHD.
noses include cerebral palsy and other types
of neuromotor dysfunction, including cen- Information Gathering
tral hypotonia and neuromuscular disorders
(Crawford, 1996; Lock et al., 1986). The Medical History
Patients with delayed language develop- A careful prenatal and perinatal history may
ment tend to present at 18–36 months of age, identify risk factors such as toxic or teratogenic
and common diagnoses among this group exposure, premature birth, or maternal com-
include language disorders, global develop- plications (e.g., infection, gestational diabetes
mental delay/intellectual disability, and ASD. mellitus, pregnancy-induced hypertension,
Toddlers with both delayed language and hypothyroidism, or other significant illness;
problem-solving skills (global developmental Whitaker & Palmer, 2008). In addition to elic-
delay) tend to present for diagnostic evaluation iting any potential history of perinatal hypoxic-
slightly earlier than those with primary lan- ischemic insult, the clinician may identify
guage disorders (median ages 27 months and 32 markers of fetal abnormality such as hypoactive
months, respectively; Lock et al., 1986). Among or hyperactive fetal movements, evidence of
17–36 month old children with ASDs receiving distress noted on fetal monitoring, breech pre-
early intervention services in Louisiana, the sentation, or abnormal brain/somatic growth
most common first concern reported by parents (i.e., microcephaly, macrocephaly, and small for
was delayed communication (74%), followed gestational age status). The neonatal history is
by challenging behaviors (24%) and social skills focused on identifying pertinent complications
deficits (12%; Kozlowski, Matson, Horovitz, and treatments, especially in infants who were
Worley, & Neal, 2011). However, communi- born prematurely and/or had medical or surgi-
cation impairment was also the most frequent cal problems requiring intensive care, and elic-
initial concern reported by parents of toddlers iting evidence of nonspecific neurobehavioral
with other developmental disorders (81%), and or neuromotor abnormalities that may provide
no single area of concern distinguished ASDs insight into the integrity of the central nervous
from other developmental disorders. system (CNS). Examples of the latter include
Disruptive behaviors including tantrums, excessive quietness, irritability, persistent colic,
oppositional and defiant behaviors, impulsiv- altered sleep-wake cycle, feeding problems,
ity, hyperactivity, and aggressive or destructive jitteriness, floppiness, and stiffness. Complica-
behavior tend to present over a wide range tions such as intraventricular or parenchymal
of ages, from 24 months to school-age and CNS hemorrhage, periventricular leukoma-
beyond. These behaviors are associated with lacia, neonatal seizures, severe hyperbilirubi-
a variety of developmental and behavioral nemia, chronic lung disease associated with
diagnoses. Whereas the hyperactivity and prematurity (especially with early postnatal ste-
impulsivity of ADHD of the combined type roid treatment), and retinopathy of prematurity
(ADHD-C) may prompt referral in the pre- should be noted (see Chapters 6 and 7).
school period, children with predominantly The medical history beyond the neonatal
inattentive type ADHD (ADHD-I) typically period is also helpful in establishing risk and
do not present until inattention, distract- providing clues to the etiology of develop-
ibility, and poor organizational skills inter- mental problems (Whitaker & Palmer, 2008).
fere with academic functioning in elementary Pertinent findings include past acute medical
school or later. Individuals with ADHD-I tend conditions (e.g., meningitis, encephalitis, trau-
to manifest impairment later (after age 7 in matic brain injury), chronic illnesses that have
43%), have primarily academic problems, and the potential to impact development and behav-
exhibit fewer social and behavioral problems ior (e.g., malnutrition, recurrent infections, can-
than those with ADHD-C (Applegate et al., cer, sickle-cell anemia, chronic renal disease),
1997). Concerns about academic achievement and environmental exposures (e.g., lead). Clues
or school performance may present as early suggesting the possibility of a metabolic dis-
as age 3–5 years in these children, but these order (e.g., episodic neurological dysfunction,
issues more commonly arise as problems in the unusual prostration with illness, or intolerance
elementary school years or later. As a result, of fasting) or genetic syndrome (e.g., congenital
anomalies such as congenital heart defects, cleft the child began to use novel two-word combi-
palate, or hypospadias) may also be elicited. nations. More detailed questions are reserved
Specific prompts are often required to elicit all for current abilities (e.g., vocabulary, length and
of the pertinent issues from parents; important content of phrases and sentences, use of pro-
medical problems may be omitted by parents nouns, use of plurals, intelligibility).
unless there is a specific review of systems and The experienced diagnostician not only
inquiry about hospitalizations or other medical has a thorough knowledge of the average age
consultants who have participated in the child’s of attainment of milestone in all areas of devel-
care. Sometimes anomalies that were surgically opment, but is able to improve parent recall of
corrected are not mentioned by parents until developmental achievements by linking them
the clinician inquires specifically about previous to important family events. This might include
surgical procedures. asking about function during past holidays,
birthdays, or summer vacations (e.g., How was
Developmental and Behavioral History your child moving around on her first birth-
A thorough and accurate developmental and day? Was she crawling, pulling up to a standing
behavioral history requires substantial skill, position, cruising along furniture, or walking
experience, and time to complete but is usually independently?). Each area of development is
the most informative aspect of the neurodevel- reviewed chronologically to ascertain the age
opmental diagnostic assessment (Leppert, 2011; at which specific important milestones were
Montgomery, 2008; Whitaker & Palmer, 2008). attained as well as the current level of function-
The components of the developmental and ing (Leppert, 2011; Whitaker & Palmer, 2008).
behavioral history are outlined in Table 15.5. This approach allows retrospective analysis of
Developmental milestones are the cornerstones developmental rate in each stream and recog-
of the developmental and behavioral history. nition of changes in trajectory over time, such
They provide the information necessary to iden- as improving trajectory (“catch-up”), plateau,
tify developmental delays and atypical patterns or regression. This is analogous to obtaining
of development including dissociation, deviance, past growth measurements and plotting them
and regression, as described previously. on appropriate growth curves to facilitate rec-
Useful milestones must have precise defi- ognition of important patterns, such as crossing
nitions, occur within a narrow normative time- percentiles due to a plateau in linear or head
frame, be clinically observable and useful to circumference growth or loss of weight.
the child, and have predictive validity (Accardo It is also important to thoroughly explore
et al., 2008; Shapiro & Gwynn, 2008). Ques- whether there are challenging or maladaptive
tions about current abilities should seek more behaviors and, if so, to obtain specific descrip-
detail than those on past milestones, which tions of the problem behaviors (Table 15.5).
should focus on more notable milestones that Standardized checklists or rating scales may
are easier to recall by parents. When eliciting be helpful in eliciting and quantifying vari-
a current history of babbling in an infant, for ous aspects of behavior from different sources,
example, the clinician must first define for the including parents and teachers, but they are
parent that babbling is consonant-vowel combi- not independently diagnostic and should not
nations. Then they can explore where the child replace the clinician interview (American
is in the hierarchy of babbling which normally Academy of Pediatrics, Task Force on Mental
progresses from single syllables (“da”) to redu- Health, 2010). If the child exhibits problematic
plicative strings (“dadada”) of varying length. disruptive behaviors such as tantrums or aggres-
This is followed by an increased repertoire sive outbursts, for example, it is important to
of reduplicative strings (“dadada,” “bababa,” specifically describe 1) the specific behaviors
“gagaga”) and then nonreduplicative strings (e.g., screaming, crying, throwing things, hit-
(“badabagaba”). If the patient were a 3 year old ting, kicking, dropping to the floor and flailing
who is speaking in phrases, the clinician would arms and legs); 2) their frequency, intensity,
not go into this level of detail about babbling and duration; 3) exacerbating factors/triggers
while eliciting the expressive language his- (e.g., time, setting/location, demand situa-
tory because this is not something that parents tions, denials, transitions); 4) ameliorating fac-
would be likely to recall. The clinician would tors and response to behavioral interventions;
instead focus on milestones such as when the 5) time trends (increasing, decreasing, stable);
first meaningful words were spoken and when and 6) degree of interference with functioning.
256 Myers
Table 15.5. Developmental and behavioral history

Age of developmental milestone attainment and current functioning
Gross motor skills
Fine motor skills
Communication/language skills (receptive, expressive, pragmatic)
Problem-solving skills/nonlanguage cognition
Academic achievement (strengths, weaknesses)
Social skills
Adaptive skills (self-care; activities of daily living)
Play/leisure skills and interests
Identification of abnormal developmental patterns

Delay, dissociation, deviance
Regression
Adaptive and maladaptive emotional behavior, self-regulation, and mental status

Temperament
Problem behaviors
Inattention
Disorganization
Hyperactivity
Impulsivity
Noncompliance, oppositional and defiant behavior
Tantrums, emotional outbursts
Aggression
Self-injurious behavior
Repetitive behaviors
Stereotypy
Obsessions
Compulsions
Perseveration
Rituals, nonfunctional routines
Tics
Sensory modulation issues
Over responsivity
Under responsivity
Sensation-seeking, unusual sensory exploration
Food- or meal-related problems, pica
Sleep problems
Difficulty falling asleep, bedtime resistance
Nightwakings
Early morning awakening
Snoring, gasping, apnea
Excessive sleep
Anxiety
Mood problems
Depression, mania, irritability, lability
Conduct problems
Lying, stealing, truancy, vandalism, cruelty to animals, fire setting
Enuresis, encopresis
In this way, it is often possible to determine the a boy with global developmental delay, hyper-
function of the behaviors and what aspects of activity, and gaze avoidance raises the possi-
the environment are maintaining these behav- bility of fragile X syndrome. Factors such as
iors through inadvertent operant condition- ethnicity, consanguinity, and history of multiple
ing (see Chapter 32). Ultimately, after the fetal losses, infant deaths, progressive or neu-
child’s developmental functioning in all major rodegenerative disorders, or conditions associ-
streams has been assessed, it is possible to judge ated with abnormal energy metabolism (e.g.,
whether the behaviors that concern the parent myopathy, myoclonic epilepsy, cardiomyopthy,
are inappropriate for the child’s developmen- retinitis pigmentosa, ophthalmoplegia, senso-
tal level or whether they are actually typical rineural deafness, peripheral neuropathy) may
behaviors once understood in the context of suggest an increased risk of metabolic disease
the child’s developmental level of functioning (Kelley, 2008).
or “developmental age.” For example, parents
who express concern and frustration about Social History
their 6-year-old child’s inattention, impulsivity, Potential protective and deleterious psycho-
tantrums in response to denials, and nocturnal social and socioeconomic factors should be
enuresis may begin to understand the behaviors explored. Parental education, cultural beliefs,
and approach them more appropriately when family support systems, and previous experi-
they are put in the context of the child’s devel- ence with people with disabilities may impact
opmental age of 3 years. the ability and willingness of parents or grand-
parents and extended family members to accept
Family History the diagnosis and treatment recommendations
The primary goal of the family history, which (see Chapter 37). A history of abuse or neglect
should include at least three generations, is of the child may be particularly relevant to the
to identify genetic risk and clues to specific interpretation of the child’s behavior, attach-
genetic etiology, including pattern of inheri- ment, and social functioning; and previous
tance. Parental ages at conception, history of involvement with child protective service agen-
prior fetal losses, educational levels, early edu- cies or foster care should be queried. Psychoso-
cational difficulties, and major medical prob- cial stressors such as recent crises or transitions,
lems should be queried. Family history should financial or marital difficulties, and mental
include developmental and neurological disor- health or substance abuse issues may impact the
ders such as intellectual disability, ASD, cere- child’s development and behavior and the abil-
bral palsy (CP), muscular dystrophies, ADHD, ity of the family to access resources and comply
learning disorders, language disorders, devel- with treatment recommendations. If there are
opmental delays, epilepsy, hearing loss, and behavioral concerns about the child, it is impor-
blindness. It is also often helpful to ask about tant to determine the parents’ expectations and
whether any family members were slow learn- behavior management strategies.
ers, required special education services or any The child’s educational/habilitative inter-
extra help in school, needed a wheelchair for vention history is also important. This includes
mobility, or weren’t able to live independently utilization of early intervention services, pre-
as adults. Psychiatric conditions such as schizo- school programs (including Head Start), and
phrenia, depression, bipolar disorder, anxiety special education services. Any history of
disorders, obsessive-compulsive disorder, and grade retention should be noted. Details of the
substance abuse should also be explored. current educational program should always
The pattern of individuals with intellectual be explored because a significant mismatch
disability in a family, for example, may sug- between educational expectations or demands
gest autosomal dominant, autosomal recessive, and the child’s current abilities is likely to
X-linked, or mitochondrial inheritance (see result in poor progress and often behavioral or
Chapter 1). Even in the absence of any other emotional problems, especially in school-age
family members with major developmental dis- children. The timing and types of concerns
abilities, the presence of other conditions may voiced by the teachers and other school staff
point to a specific genetic etiology. For exam- should be noted, along with previous disci-
ple, a history of anxiety and difficulty with math plinary actions such as frequent loss of recess
in the mother and an undiagnosed tremor and or other privileges, after-school detention, or
ataxia syndrome in the maternal grandfather of suspension from school.
258 Myers
Physical Examination a clue to an underlying genetic syndrome such

as 22q11.2 deletion syndrome. Documentation
The diagnostic evaluation should include a of detailed descriptions of anomalies is useful
complete general physical and neurological for later searching the literature and online
examination. Particularly important aspects databases for potential diagnoses, which can in
of the general physical examination include turn lead to a reasonable approach to laboratory
assessment for abnormal growth, dysmorphic testing (Toriello, 2008).
features, evidence of visceral storage such as Coarse facial features, large tongue, cor-
hepatomegaly (enlarged liver) and spleno- neal clouding, hepatomegaly, and splenomegaly
megaly (enlarged spleen), and skin manifes- may be due to lysosomal storage diseases
tations of neurocutaneous disorders or other (e.g., mucopolysaccharidoses, Gaucher disease;
genetic syndromes. Kelley, 2008; see Appendix B). In all children
Aberrations in growth such as short stat- the skin should be carefully examined, along
ure, tall stature, obesity, microcephaly, and with the other accessible ectodermal deriva-
macrocephaly may provide important clues to tives (hair, teeth, and nails). Hyperpigmented
the etiology of the developmental disability. or hypopigmented lesions, vascular anomalies,
For some underlying causes, such as hypothy- and other lesions such as various types of fibro-
roidism, effective treatment is available. Impor- mas and hamartomas are prominent aspects of
tant alterations in the trajectory or velocity of neurocutaneous (i.e., skin and nervous system)
growth may be exposed by plotting serial mea- syndromes such as neurofibromatosis, tuber-
surements on normal population growth curves, ous sclerosis, Sturge-Weber syndrome, ataxia-
revealing crossing of multiple percentile lines. telangiectasia, and incontinentia pigmenti
For example, an infant with a rapidly increasing (Thiele & Korf, 2006; see Appendix B). Linear
head circumference may have hydrocephalus streaks or whorls of hypopigmentation, some-
and require surgical intervention. A plateau in times referred to as hypomelanosis of Ito, are
head growth after 6 months of age resulting in often associated with mosaicism for a variety of
acquired microcephaly in a female infant in the chromosomal abnormalities (Kuster & Honig,
second year of life may be a manifestation of 1999; see Chapter 1).
Rett syndrome. The visible change over time The neurologic examination of children
on the growth curve is much more informative with developmental disabilities includes stan-
than just a single measurement at the time of dard evaluation of cranial nerve function, pos-
evaluation. ture/station, muscle strength, muscle tone, deep
The child also should be examined for tendon reflexes, cerebellar function, gait, coor-
congenital anomalies, which can be classified as dination, and sensation. Abnormalities such as
major or minor. Major anomalies usually require unusual movements, pathological reflexes, and
medical or surgical intervention, whereas minor significant asymmetry of function, strength,
anomalies generally do not require intervention tone, or deep tendon reflexes are recorded. In
but may be of cosmetic concern and diagnos- infants and young children, markers of neuro-
tic significance (Toriello, 2008). Major and motor maturation such as primitive reflexes and
minor anomalies occur much more commonly postural reactions should be examined (Blasco,
in children with developmental disabilities 1992). Older children are assessed for markers
than in typically developing children. In indi- of neuromaturation and neurodysfunction, such
viduals with three or more minor anomalies as upper extremity posturing during stressed
the chance of having a major anomaly, a dys- gait maneuvers and finger-tapping tasks (Mont-
morphic syndrome, or both, increases greatly gomery, 2008). Neurologic “subtle” or “soft”
(Kirby, 2002; Toriello, 2008). Measurements signs such as dysrhythmia and overflow move-
should be recorded and compared to norma- ments, which are unintentional and unneces-
tive values in order to confirm or refute clini- sary movements that accompany voluntary
cal impressions of abnormal size, proportions, activity, are often detected. Mirror overflow,
or spacing of body parts (Hall et al., 2007). A for example, includes movements that occur on
clinical impression of hypotelorism (eyes close the opposite side of the body during tasks such
together), for example, should be confirmed by as sequential finger-tapping (Cole, Mostofsky,
measurements because it is a strong indicator Gidley Larson, Denckla, & Mahone, 2008;
of abnormal brain development. Findings such Mostofsky, Newschaffer, & Denckla, 2003).
as a submucosal cleft palate are important not Although most basic motor skills are mastered
only because of the treatable impact on speech, by age 6 or 7, some subtle signs may persist in
feeding, and conductive hearing loss, but also as typically developing children until about age 10
(Larson et al., 2007). However, prominent per- & Amatruda, 1940) and others to assess differ-
sistence into late childhood or adolescence may ent domains of development.
indicate atypical neurological development. Adaptive functioning is usually quantified
These subtle signs are more common in chil- using standardized interviews such as the Vine-
dren and adolescents with developmental dis- land Adaptive Behavior Scales, Second Edition
abilities, including ADHD, learning disorders, (VABS-2; Sparrow, Balla, & Cichetti, 2005),
and high-functioning autism, and are related to or caregiver-completed rating scales such as
inhibitory control (Cole et al., 2008; Mostofsky the Adaptive Behavior Assessment System-
et al., 2003). II (ABAS-II; Harrison & Oakland, 2003), but
may be supplemented by direct observation
Developmental Testing and and elicitation. Criterion-referenced func-
Neurobehavioral Status Exam tional measures such as the broad-based Func-
In addition to assessing each stream of devel- tional Independence Measure for Children
opment by history, the diagnostician evaluates (WeeFIM; Msall et al., 1994) and the motor
each child by direct observation and elicitation domain-specific Gross Motor Function Classi-
(Leppert, 2011; Montgomery, 2008; Stein & fication System (Palisano et al., 2007) are useful
Lukasik, 2009). Formal testing is either com- for determining an individual’s current ability
pleted by the clinician or the results of current to perform the tasks of daily living and to ful-
testing done by professionals in other disci- fill expected social roles. These evaluations can
plines are reviewed, or both. Language and often be used as meaningful outcome measures
nonlanguage/problem-solving aspects of cog- and to suggest supports necessary for successful
nition are measured directly. Age-appropriate progress (Msall & Msall, 2008).
quantifiable visual-motor measures, such as Social behavior is often quantified as part
those that assess figure copying, drawing, and of a broad adaptive measure such as the VABS-2
written output, and those that do not require or the ABAS-II, but must be directly assessed
pencil and paper (e.g., block design tasks) are as well. Appropriate toys should be available
included, and the qualitative aspects of the to the child so that spontaneous independent
child’s performance (e.g., pencil grasp, tremor play can be observed (often while the clinician
or overflow movements, and qualitative features is conducting the parent interview) and inter-
of the final product) are carefully observed and active play can be elicited by the examiner or
recorded. In older preschoolers and school-age spontaneously initiated by the child. Eye con-
children, academic achievement is also typically tact, including referential gaze shifts, response
measured using standardized instruments. to joint attention bids, and initiation of social
A review of the many specific develop- communicative interactions such as bringing/
mental and psychoeducational tests available is showing toys to the parents to share interest
contained in Chapter 16, and more thorough and positive affect, and commenting should be
reviews are available elsewhere (Aylward, 2011; assessed. Direct assessment measures specific
Feldman & Messick, 2008; Montgomery, 2008; to certain disorders are often utilized when
Stein & Lukasik, 2009). In general, physicians needed to further evaluate clinical suspicion or
who perform independent evaluations tend to narrow the differential diagnosis. For example,
use tests that are relatively brief to adminis- the appropriate module of the Autism Diagnos-
ter such as the Capute Scales (CAT/CLAMS; tic Observation Schedule (ADOS; Lord, Rut-
Accardo & Capute, 2005), Battelle Develop- ter, DiLavore, & Risi, 1999) or the standard
mental Inventory (BDI-2; Newborg, 2005), or high-functioning versions of the Childhood
Mullen Scales of Early Learning (MSEL; Mul- Autism Rating Scale, Second Edition (CARS2-
len, 1995), Stanford-Binet Intelligence Scales ST or CARS2-HF; Schopler, Van Bourgondien,
for Early Childhood (Early SB5; Roid, 2005), Wellman, & Love, 2010) may be administered.
Young Children’s Achievement Test (YCAT; Maladaptive behavior is also typically quan-
Hresko, Peak, Herron, & Bridges, 2000), Pea- tified using standardized rating scales completed
body Picture Vocabulary Test (PPVT-4; Dunn by parents or teachers to supplement the history
& Dunn, 2007), Kauffman Brief Intelligence obtained by interview and review of records. The
Test (KBIT-2; Kaufman & Kaufman, 2004), American Academy of Pediatrics Task Force on
and Wide Range Achievement Test (WRAT- Mental Health (2010) has published a compre-
4; Wilkinson & Robertson, 2006). They also hensive review of available informal tools and
use portions or subtests of various measures standardized instruments, including broad mea-
such as the Gesell Developmental Schedules sures (some of which include adaptive behaviors
(Gesell & Amatruda, 1947; Gesell, Halvorsen, as well) and narrow measures targeting specific
260 Myers
disorders or types of symptoms (e.g., ADHD, history-taking and examination skills, ability to
depression, conduct problems). Important infor- assign relative weights of importance to specific
mation can also be gained from qualitative assess- symptoms and signs, and knowledge of disor-
ment of anxiety, attention, distractibility, impulse ders of development and behavior and their
control, activity level, compliance, and atypical causes (Pearn, 2011).
repetitive behaviors or resistance to change dur- The clinician has actually formulated and
ing the interview, testing, and physical examina- modified the differential diagnosis through-
tion. Deviations from the norm may be readily out the history-taking process. This is further
apparent upon observation of the child’s behav- refined by considering the direct clinical assess-
ior during the various aspects of the evaluation. ment, and it may be helpful to tabulate the data
It is common, however, not to witness problem obtained from the developmental testing, phys-
behaviors such as tantrums, self-injury, aggres- ical examination, and neurobehavioral status
sion, and irritability during the evaluation, and examination (Figure 15.3) to facilitate identify-
even a child with significant ADHD may exhibit ing the pertinent problems and narrowing the
few overt symptoms. This does not negate the differential diagnosis through pattern recogni-
history provided by the parents, especially when tion (such as discrepancies suggesting develop-
verified by documentation from teachers, thera- mental dissociation).
pists, or other family members such as grandpar- Because developmental disabilities result
ents, since many children are able to temporarily from diffuse brain dysfunction, the set of prob-
modify their behavior for a few hours, especially lems identified through the thorough evaluation
in a one-on-one or very small group setting. In process is likely to include cognitive, motor, and
contrast, the history is suspect if the child clearly neurobehavioral manifestations (refer to Figure
exhibits skills such as appropriate imaginative 15.1) and sometimes CNS morphologic anoma-
play and reciprocal social interaction during the lies (e.g., microcephaly, structural malformation
evaluation despite parental report that the child on brain imaging) or neurophysiologic abnor-
never exhibits these behaviors at home or in malities (e.g., seizures, abnormal EEG). This
other settings. may lead to the tendency to arrive at a long list
of diagnoses that is essentially the same list of
Diagnostic Formulation concerns that the parents had expressed, except
Ultimately, the diagnostic process is an exercise that it has been translated into medical termi-
in the reduction of uncertainty through infor- nology. Such an approach is not very helpful or
mation gathering, serial hypothesis genera- very satisfying to parents. Over 40 years ago,
tion and testing, and deductive reasoning. The McKusick (1969) used the terms lumping and
developmental evaluation should culminate in splitting to describe two positions on the origin
a diagnostic formulation, which in turn guides of genetic diseases, and emphasized that both
etiologic investigation and management recom- had an important place: lumping in connection
mendations. All of the information-gathering with pleiotropism (“many from one”—multiple
in the form of the history-taking, record review, phenotypic features arising from one etiologic
and direct clinical assessment provides the factor) and splitting in connection with hetero-
input which the clinician then has to compare geneity (“one from many”—the same or almost
to existing scientific knowledge of normal and the same phenotype arising from several dif-
abnormal development and behavior to identify ferent etiologic factors). In developmental dis-
the pertinent problems and develop hypotheses abilities, although splitting is emphasized in the
to explain these problems in a list called a dif- information-gathering process, etiologic diag-
ferential diagnosis. nosis, and identification of specific impairments
For over a century, the Oslerian para- to be addressed in treatment, lumping is the key
digm of formulating a differential diagnosis has to parsimonious diagnostic classification at the
been pivotal to best-practice medicine (Pearn, disorder or syndrome level. The diagnostician
2011). The differential diagnosis is defined as must emphasize the importance of the forest
a list of conditions consistent with the patient’s over the trees.
history and observed signs arranged in ranked For example, a particular child may exhibit
order of decreasing likelihood. It is constantly deficits in language and nonlanguage cogni-
modified throughout the evaluation process as tion, self-help skills/activities of daily living,
additional information becomes available, with phonology, semantic and pragmatic aspects
potential diagnoses being added, eliminated, of language, socialization with peers, reading
and moved up or down on the list. The qual- comprehension, math computation, written
ity of differential diagnosis depends on clinician output, and motor coordination. The child may
Pertinent qualitative
Domain Test(s) Age level SS or DQ Grade level information
Language, verbal IQ —
Problem-solving, —
nonverbal IQ
Working memory,
processing speed, other
Visual-motor, fine motor —
Gross motor —
Reading
- Decoding
- Comprehension
- Fluency
Mathematics
Spelling
Writing
Other academic or
pre-academic
achievement
Adaptive behavior —
Social-emotional behavior —
Maladaptive behavior —
(rating scales)
General physical exam — — — —
Neurologic exam — — — —
Neurobehavioral status — —
exam
Figure 15.3. Sample format for tabulating neurodevelopmental assessment data. (Key: DQ developmental
quotient, SS standard score.)
also have problem behaviors including inat- Once the diagnostic evaluation has been
tention, impulsivity, hyperactivity, tantrums, completed, the diagnoses and recommenda-
noncompliance, preference for structure and tions for treatment and further evaluation are
routine, and perseveration on certain top- presented to the family. Often, referrals are
ics or questions. All of these findings can be made to specialists in other disciplines, such
explained by the single diagnosis of moderate as special education, speech-language therapy,
intellectual disability rather than a list of diag- occupational therapy, or physical therapy (usu-
noses including moderate intellectual disabil- ally within the early intervention or education
ity, ASD, ADHD, global learning disabilities, systems) in order to develop and implement
phonological disorder, developmental coordi- specific treatment plans. In some cases, further
nation disorder, and oppositional defiant disor- evaluation is required to delineate the diagno-
der. Alternatively, she may be appropriately and ses, and referral to a neuropsychologist, clinical
meaningfully diagnosed with several categori- psychologist, or speech-language pathologist
cal disorders (e.g., moderate intellectual disabil- for additional testing may be necessary.
ity, ASD, and disruptive behavior disorder not When explaining the developmental pro-
otherwise specified), yet there is likely a single file and diagnostic formulation to parents, one
underlying etiology, which may or may not be can start with writing brain dysfunction in the
identified through laboratory investigations. center of a blank piece of paper, followed by
Even when a relatively long list of diagnoses is listing beneath it the child’s pertinent problems
appropriate, it is important to emphasize that (impairments), divided into the three categories:
the child has one problem, brain dysfunction, cognitive, neuromotor, neurobehavioral, and some-
and that these diagnoses represent the most times a fourth category, anatomic/physiologic (used
parsimonious description of the manifestations when there are CNS-related anomalies, such
of that brain dysfunction. as microcephaly or macrocephaly, or known
262
hypoxic-
etiologies genetic metabolic teratogenic idiopathic infectious traumatic
ischemic
environment, developmental
experiential brain dysfunction
influences
impairments cognitive motor neurobehavioral anatomic and

manifestations manifestations manifestations neurophysiologic
language volitional movement attention manifestations
verbal iq posture impulse control microcephaly
problem-solving involuntary activity level macrocephaly
nonverbal iq movement social reciprocity structural
abnormalities
academic tone, strength mood, anxiety
neurometabolic
achievement reflexes repetitive behaviors abnormalities
memory coordination aggression, self- seizures
executive functions graphomotor skills injury EEG abnormalities
categorical diagnoses
diagnoses
Figure 15.4. Diagnostic formulation diagram.
neurophysiologic abnormalities, such as seizures Miller et al., 2010; see Chapter 1). Some fami-
or abnormal EEG ). Below the three or four lies decline etiologic investigation for various
parallel columns of impairments, the categorical reasons including concerns about cost or insur-
diagnoses are listed while explaining the mean- ance coverage, potential assignment of respon-
ing of each. Next, one can go back to the top sibility or “guilt” to one parent, issues of future
of the paper and diagram the various causes of insurability of the child, lack of curative treat-
brain dysfunction, followed by crossing out ment based on etiology, and not wanting to put
those that do not pertain to the child and arriv- the child through any discomfort or risk associ-
ing at those that should be further investigated. ated with tests.
This leads to a discussion of recommendations
for laboratory tests, imaging studies, and/or
other additional evaluations (or brief discussion SUMMARY
of why further investigation is not necessary). Developmental brain dysfunction, whether
The potential influence of environmental and genetic or due to other pathology, varies in sever-
experiential influences fits well into the discus- ity and is manifested as a spectrum/continuum
sion at this point. All of this leads to a piece of of disorders ranging from high-prevalence,
paper looking like something similar to Figure low-severity conditions such as ADHD, learn-
15.4, but specific to the individual patient. The ing disabilities, and developmental coordination
diagnosis list and profile of impairments can also disorder to low-prevalence, high-severity con-
be referred to during discussion of treatment ditions such as intellectual disability and cere-
recommendations. bral palsy. Developmental diagnosis includes
The specific recommendations regarding delineation of the specific developmental
etiologic investigations depend on the specific disorder(s), quantification of severity, identifi-
diagnoses (especially presence or absence of cation of associated deficits, and a search for an
global developmental delay or intellectual dis- underlying etiology. The developmental profile
ability), physical examination findings, neurobe- compiled during diagnostic evaluation is vital
havioral profile, and family history. Less severe for determining prognosis and guiding treat-
disabilities such as language disorders, learning ment planning.
disabilities, and ADHD usually do not require
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16 Understanding and
Using Neurocognitive
Assessments
Lauren Kenworthy and Laura Gutermuth Anthony

■ Understand the purpose of neuropsychological assessment
■ Be able to describe a model of neuropsychological assessment that
incorporates development, brain, and context
■ Be familiar with the domains of functioning that neuropsychological
assessments address
■ Understand how to formulate referral questions and interpret testing
results in order to inform treatment
■ Know how to maximize the impact of an assessment through effective
dissemination of findings and recommendations
■ Be able to apply these concepts to a specific case
This chapter focuses on general principles including precocious math and science abilities.
and practical aspects of neuropsychological/ His parents also report that he has a good sense
cognitive assessment. In order to ensure that of humor, likes to learn, and is devoted to a few
the application of this topic is clear, we will important people in his life. But he is socially
refer to a specific case (see John, Parts 1–10) isolated, rude to his teacher, inflexible, and pro-
throughout to illustrate key points. duces poor written work.
■ ■ ■ John, Part 1
John is an 8-year-old boy in the second grade
THE PURPOSE OF
who was referred for a neuropsychological evalu- NEUROPSYCHOLOGICAL
ation following difficulties with socialization and ASSESSMENT
schoolwork. He had previously been diagnosed There are currently no medical treatments for
with a sensory integration disorder, motor delay, the core symptoms of many neurodevelopmen-
and anxiety but received an Asperger Disorder tal disabilities. For example, primary interven-
diagnosis as a result of his neuropsychological tions for intellectual and learning disabilities
evaluation. John is a boy with many strengths, (ID/LD) and autism spectrum disorders (ASDs)
267
268 Kenworthy and Gutermuth Anthony
are linguistic, behavioral, and cognitive. In the A MODEL FOR

case of attention-deficit/hyperactivity disorder DEVELOPMENTAL
(ADHD) there are potent medications that tar-
NEUROPSYCHOLOGICAL
get core symptoms, but they are most effective
when used in combination with behavioral and ASSESSMENT
cognitive interventions (Jensen et al., 2001). The developmental neuropsychological assess-
Because children with neurodevelopmental dis- ment model described by Bernstein (2000)
abilities are frequently educated in mainstream is ideally suited to the needs of children with
environments, interventions are best applied in neurodevelopmental disabilities because it
school settings. As such, adjunctive therapies emphasizes identification of diagnostic behav-
and the development of an appropriate school ioral clusters or domains, which pose specific
and therapeutic program is typically a funda- risks to the developing child in specific contexts
mental step to a comprehensive treatment plan (e.g., elementary school). Bernstein’s model of
(Klin & Volkmar, 2000; Wolraich & DuPaul, assessment has three key interacting variables:
2010). In addition, there is a great deal of vari- 1) development, 2) brain, and 3) context.
ability within the cognitive profiles of children Development is the first key variable. An
with neurodevelopmental disabilities. For these understanding of development in typical chil-
two reasons, a neuropsychological evaluation dren and in the specific child being assessed is a
that delineates cognitive strengths and weak- hallmark of a good assessment. This means not
nesses and makes specific recommendations only knowing that reversing letters when writ-
regarding classroom placement, accommoda- ing is typical in 5 year olds and not expected in
tions, and special education and therapy needs 8 year olds, for example, but also understanding
can serve as the cornerstone of an effective an individual child’s developmental trajectory
treatment plan for a child with a neurodevelop- and how a neurodevelopmental disorder may
mental disability. alter brain functions that in turn change the
Over the last several decades, neuropsy- way a child learns and develops other abilities.
chology has evolved to better meet the needs Piaget (1952) first provided this understanding
of children with neurodevelopmental disabili- of children as constructing knowledge through
ties. The advent of brain imaging and other experience. A child’s development occurs in
sophisticated diagnostic techniques has shifted the context of his or her own specific brain and
neuropsychology’s role from diagnosis and environment interacting together. Joint atten-
lesion location to the determination of function is a good example of a neurocognitive abil-
tional capacities and needs in real world set- ity that influences how a child benefits from his
tings, such as home and school (Burgess et or her environment. Joint attention, or the abil-
al., 2006; Chaytor & Schmitter-Edgecombe, ity to share attention between another person
2003; Kenworthy, Yerys, Anthony, & Wallace, and an object, plays an early developing “self-
2008; Manchester et al., 2004). Matarazzo doc- organizing role” in helping children learn from
umented this shift in his seminal paper distin- their social environment (Mundy & Newell,
guishing psychological testing, which is focused 2007). Impairments in joint attention, as occur
on producing test scores, from psychological in autism, have downstream effects on lan-
assessment, which incorporates test scores into guage, intelligence, and social abilities (Mundy
a broadly based assessment of a child’s abilities & Neal, 2001; Pennington, 2002). Assessment
and environment. Bernstein (2000) elaborated of a developing brain also requires an appre-
on this, saying “The primary goal of a compre- ciation of plasticity and consideration of pos-
hensive clinical assessment [of a child] is … to sible brain reorganization following injury. An
produce a comfortable, competent 25 year understanding of the typical course of devel-
old” (p. 408), which requires an assessment opment, the timing of the insult or injury and
designed to promote optimum fit between an its potential effects on brain structure, and the
individual child’s cognitive, social, and behav- ability to benefit from context are all important
ioral profile and the environments in which (Baron, 2004; see John, Part 2).
that child learns and develops (Baron, 2004).
This is typically what parents most want from ■ ■ ■ John, Part 2
an assessment; however, when evaluations
are geared toward the presentation of “test Developmental variables are key to under-
results” or performance on specific criterion- standing John’s neuropsychological profile.
based testing, as within school settings, it is The development of his preacademic skills
easy for this goal to become lost. was precocious, he could recite the alphabet
Understanding and Using Neurocognitive Assessments 269
at 18 months of age, demonstrating a facility considerable intelligence must be choosing not

for memorizing discrete units of information. to write.
At 5 years of age he demonstrated very strong
expressive and receptive language skills, and This leads directly to the final key variable
in assessment, which is the context in which the
he achieved a superior verbal IQ score, but at
child, with his or her specific brain, is devel-
8 years of age John is expected to formulate
oping (see Figure 16.1). Context is important
multiple sentences on a topic of his teacher’s for many reasons. It is essential to understand
choosing and his precocious vocabulary and how a child’s context to date affects his or her
verbal memorization do not support him on this performance during an assessment. For exam-
higher order academic language task. It does, ple, impaired vocabulary in a 7-year-old child
however, allow him to tell his teacher in very who comes from a home in which books were
sophisticated language what is wrong with her read to him daily throughout his development,
assignments. raises concerns regarding abnormalities in left
frontal-temporal brain networks and the need
The brain is Bernstein’s second key vari- for specialized therapy; the same vocabulary
able for assessment. Assessment of a child with in a child whose family speaks a different lan-
a neurodevelopmental disability occurs in the guage than that in which the assessment was
context of an understanding of the neural sub- administered may simply indicate the need
strate, or brain structure/function, expected for increased exposure to English words (fam-
in the specific disorder and observed in the ily and culture). The context of the assessment
individual child being assessed. It can be very itself is vital as well. The 7-year-old child with
powerful for parents and the treatment team impaired vocabulary may be reacting poorly to
to understand which components of the child’s the assessment setting. Perhaps the examiner
behavior are related to brain-based differences was unable to develop adequate rapport with
in processing, understanding, and producing the child, who became very anxious and pro-
information/behavior, as opposed to behav- vided only minimal responses. Many children
iors which may be learned, or even willful on behave differently in school, home, and clinical
the child’s part. Distinguishing between these settings, and thus information must be gathered
two sources of behavior is what helps a family about performance in each setting to create a
distinguish when a child “can’t”—as opposed complete picture. Finally, an understanding of
to “won’t”—do what they expect. In the case future contexts is important for an assessment
of “can’t,” parents and treatment teams can to effectively predict risk and make recommen-
clearly understand that changes in the demand dations. For example, a 4-year-old child with
or context will be needed (see John, Part 3). impaired phonological awareness and segmen-
For example, most children with ADHD and tation abilities may be thriving in a nonaca-
ASDs struggle with executive dysfunction and demic preschool, but is at great risk of failure to
disorganization. Many of them cannot sit down
on their own initiative at home to begin home-
work, but if the context is altered to be more
supportive, through the provision of a written
schedule, checklist, breaks, and rewards, they Community
are successful. and culture
In John’s case, discussion of his brain-based
deficits in executive function, organization, and
flexibility abilities was essential for helping his
teacher understand that this bright boy with Family School
an oversized vocabulary really couldn’t orga- and and
nize words into written responses on specific culture classroom
topics of her choosing, unless he was taught
a highly structured writing rubric. Like most of
us, until instructed otherwise, she assumed that
a boy with John’s core language abilities and Figure 16.1. Viewing the child in context.
succeed in a kindergarten setting where reading 2. Is the child inattentive to all types of stimuli
skills are emphasized. Likewise, a very bright (people, words, and pictures) or just some
but disorganized fifth grader is at great risk for types?
increased difficulties when he or she makes the 3. Is the child inattentive at home, at school,
transition to middle school with its demands and in the clinician’s office, or just in some
for managing multiple subjects, teachers, and settings?
longer assignments (school and classroom).
4. What are the demands being placed on
Delineation of risks is what drives practical rec-
the child to pay attention and what atten-
ommendations for intervention (Baron, 2000).
tion demands will he or she confront in the
Development and successful recommendations
future?
for enhancing development do not exist in a
vacuum. They occur within specific contexts 5. What other cognitive, emotional, or con-
that can affect the course and prognosis of the textual factors are affecting the child’s abil-
child’s difficulties, the way they are expressed, ity to pay attention?
and the success of treatment. For this reason, 6. Have medical sources of attention prob-
tests should not be used nor interpreted in iso- lems, such as sleep disturbance and thyroid
lation (see John, Part 4). abnormalities, been ruled out?
A comprehensive neuropsychological
assessment should provide a thorough investi-
In John’s case, consideration of context was gation of each of the domains of functioning
important for many reasons. For example, that are described in the next section of this
although his parents were concerned about his chapter to identify: a pattern of cognitive and
behavioral strengths and weaknesses; the risks
lack of social skills, John had a close friend his
posed by the child’s profile in the contexts he
age who did not have any neurodevelopmental
or she inhabits; and recommendations to ame-
disabilities. He saw this person frequently and liorate those risks through accommodations or
at first review his ability to sustain this friend- special teaching/therapies (see John, Part 5).
ship raised questions about whether he had
greater social interaction abilities than his par- ■ ■ ■ John, Part 5
ents gave him credit for. Review of the context
Convergence profile analyses were essential
revealed, however, that this friend was a mem-
for interpreting John’s attention data. He was
ber of a family that socialized with John’s whole
reported by parents to have considerable dif-
family on a regular basis, and so John was not
ficulty maintaining focused attention at home,
sustaining the friendship independently, but
but he performed well on a computerized
rather benefiting from a highly supported
“attention” task during the assessment. His
social context.
attention to the examiner’s spoken directions
Assessment requires the integration of was somewhat less consistent, but he usually
1) test performance, behavioral observations, knew exactly what to do before she had finished
and contextual information provided by par- giving directions anyway. He was least attentive
ents, teachers, and treatment team; 2) prin- in the assessment when the examiner tried to
ciples of development; and 3) knowledge of chat with him about her own interests and expe-
brain function. This information is integrated riences. Teacher report of attention indicated
across the span of the child’s development and problems with attention to her instructions,
across the settings the child inhabits. Baron class discussion, and tasks he found to be bor-
(2004) terms this process convergence profile
ing, although the report also indicated excellent
analysis, highlighting the fact that one test score
ability to focus, once engaged in independent
or reported behavior is insufficient to generate
an accurate cognitive profile. For example, take work, on a task that interested him. John also
an assessment designed to answer whether or experienced problems with anxiety and sleep.
not a child has an attention deficit. All of the Integration of this data across contexts and
following questions must be answered before a tasks indicates several things: John does not
determination can be made: experience pervasive attention problems but
1. Is there a history of problems paying atten- has increasing difficulty attending as the context
tion or is it a new problem? becomes less structured and predictable and
the executive function demands increase (home unless difficulties in that domain were greater
versus school) and as the social content of the than what would be expected, based on his or
material increases (good attention to a comput- her IQ. That having been said, it is important
erized task or in independent work, but poor to recognize that general intelligence scores
attention when people are talking to him). This have narrower implications for a child’s ability
points to executive and social deficits as the pri- to become a successful and happy 25-year-old
than is often assumed by parents. Intelligence
mary problem, not attention. John’s strength in
testing originated in early 20th century France
terms of his remarkable intelligence is another
as a method to predict which children would
key factor affecting attention as he typically succeed in school. Its development in 20th
understands information very quickly and thus is century America included the delineation of
more easily bored. Finally, both sleep problems separate factors in intelligence with a strong
and anxiety may contribute to John’s attention emphasis on verbal knowledge and spatial per-
problems, a finding that has important implica- formance as key factors in determining over-
tions for treatment strategies. all intellectual abilities. Crystallized (use of
knowledge and experience) versus fluid (solving
novel problems) intelligence is another com-
DOMAINS OF mon dichotomy. Processing speed has played
FUNCTIONING ASSESSED an increasing role in our understanding of per-
IN NEUROPSYCHOLOGICAL formance on IQ tests, particularly in children
EVALUATIONS with congenital or acquired brain abnormali-
ties (see Baron, 2004). In any case, Gardner’s
A comprehensive neuropsychological assess- (1983) seminal book on multiple intelligences
ment includes a description of strengths and serves as an important reminder that IQ scores
weaknesses. For each neuropsychological capture only a fraction of the many abilities
domain, the assessment should provide a clear that govern a person’s performance in the real
summary statement describing the child’s world. Other caveats regarding measures of
abilities and an integration of data from mul- general intelligence are that 1) crystallized and
tiple sources. A full assessment includes mul- verbal knowledge measures are affected by the
tiple methods, such as parent and child clinical home and school environment, 2) IQ scores
interviews, norm-referenced rating scales from are unstable in young children and are not
the parent, teacher, and child (self-report), necessarily predictive of later performance on
behavioral observations, standardized, norm- intelligence tests, and 3) the causes of poor per-
referenced tests in relevant domains, and projec- formance have been oversimplified. For exam-
tive techniques (subjective measures). Although ple, Wechsler Processing Speed Index scores
the specific neuropsychological domains and are heavily reliant on fast processing but also
their labels can vary somewhat depending on fast motor output, a demand that is not recog-
the examiner, the most commonly referenced nized by their name. The Wechsler Arithmetic
domains of functioning are defined below. subtest requires listening to a word problem and
Table 16.1 also lists these domains, indicates then performing arithmetic operations, without
neurodevelopmental disabilities that may be paper, to produce an answer. As a result, the
associated with deficits in each domain, and task includes auditory processing (listening to
gives examples of relevant data sources regard- the question), verbal processing (identifying
ing each domain. There is also a table listing the quantities and operations required), work-
many common tests associated with each of ing memory (maintaining the key elements
these domains in the appendix at the end of this in working memory and performing opera-
chapter. tions on them), and exposure to arithmetic
(Sattler, 2001).
General Intelligence
General intelligence is commonly discussed in Attention
neuropsychological assessments and is often Attention is closely associated with, and some-
considered the benchmark against which other times even subsumed under, executive function-
cognitive abilities are measured. For example, a ing. Common subdomains within the concept
child with an overall IQ score that is in the intel- of attention include orienting, focusing, shift-
lectually deficient range would not be identified ing, and sustaining attention. Attention relies
as having a specific visual processing deficit on complex distributed networks in the brain
Table 16.1. Common neurocognitive domains and associated neurodevelopmental disorders
Examples of associated Examples of

Domain neurodevelopmental disorders key data sources
General intelligence Intellectual disability Standardized IQ tests
Attention Attention deficit disorder Parent and teacher rating scales
Emotional disorders (anxiety, depres- and qualitative report
sion, trauma) Observations during assessment
Traumatic brain injury Standardized tests
Epilepsy
Executive function Attention deficit disorder Parent and teacher rating scales
Autism and qualitative report
Reading disability Observations during assessment
Prematurity Standardized tests
Nonverbal learning disability
Traumatic brain injury
Language Language-based learning disabilities Observations during assessment
(reading, writing) Standardized tests
Developmental language disorders School work
Autism Qualitative parent and teacher
Hearing impairment report
Visual perceptual Nonverbal learning disability Standardized tests
Prematurity Observations during assessment
Visual impairment
Learning/memory Autism Standardized tests
Attention deficit disorder Observations during assessment
Learning disabilities Qualitative parent and teacher
Developmental language disorders report
Traumatic brain injury
Intellectual disability
Epilepsy
Social cognition Autism Parent and teacher rating scales
Nonverbal learning disability and qualitative report
Structured interview observa-
tions
Standardized tasks
Motor/sensory Cerebral palsy Standardized tests
Attention-deficit/hyperactivity disorder Observations during assessment
Autism Work samples
Emotional adjustment Depression Parent and teacher rating scales
Anxiety disorder and qualitative report
Trauma Observations and self-report
during assessment
Adjustment problems
Projective measures
Bipolar disorder
Attention deficit disorder
Medical disorders
Adaptive/academic All Parent teacher qualitative report
and report on standardized
adaptive behavior interviews
Standardized academic tests/
tasks
Work samples
(Mesulam, 2000) with indications of specific deficits affecting his ability to organize, inte-
right hemisphere involvement (Stefanatos & grate, and plan with complex information or
Wasserstein, 2001). Attention is affected by a multistep tasks, which affected his ability to
diverse array of factors including anxiety, arousal write essays at school. He required interven-
(most sleepy people are inattentive), difficulty tions targeted at helping him to learn to use
of the task (e.g., dyslexic children are inatten- a specific writing rubric that provided familiar-
tive specifically on reading-related tasks), moti-
ity and structure to this otherwise open-ended,
vation (e.g., interest level in the material), and
overwhelming task. John also struggled with
the novelty, as well as the type, of the situation.
A finding of impaired attention should be based cognitive inflexibility and needed to learn rou-
on data showing difficulty paying attention in tines and scripts to help him be more flexible.
several different contexts (home and school), on On the other hand, John’s ability to manipulate
a variety of tasks, and in the absence of other numbers in working memory was remarkable,
interfering mental states. and he generally had adequate impulse control.
Executive Function Language

Executive function is an umbrella term that This domain addresses the ability to understand
captures a set of cognitive abilities that gov- language, use language to express needs and
ern behavior regulation and goal-oriented wants, establish social relationships, and make
activity (Welsh & Pennington, 1988). These the sounds of speech (see Chapter 20). Often
cognitive processes include working memory, subsumed under the language domain are a
inhibition, flexibility, monitoring, planning, full range of communicative abilities, including
and generativity (Rogers & Bennetto, 2000). motor speech capacities and pragmatic non-
Executive functions rely on complex intercon- verbal communications such as gestures. At its
nected brain networks emphasizing frontal and core, the language domain involves the pho-
subcortical nodes (D’Esposito, 2007; Miller & nological, semantic, syntactic, and formulation
Cohen, 2001; Stuss & Benson, 1984). Execu- abilities that enable us to distinguish and com-
tive functions are notoriously difficult to cap- bine sounds, build a vocabulary, and combine
ture in the standard test-based assessment, as words into sentences and longer utterances.
the assessments are usually conducted in a quiet Language abilities rely heavily on fronto-
room with one highly supportive adult exam- temporal brain networks, typically in the left
iner prompting performance. In this structured hemisphere. Language skills are often divided
arrangement, the examiner provides the plan, between receptive or comprehension abilities
organizes the activities, gives explicit instruc- and expressive abilities, which can be divergent.
tions and cues regarding performance, probes Although most neurocognitive evaluations
for elaboration, presents tasks one at a time, and screen basic language abilities and can be help-
generally supports executive control (Bernstein ful in differentiating the unique contributions
& Waber, 1990; Gioia & Isquith, 2004). Such of attention, executive function, social cogni-
support makes it difficult to reveal deficits in tion, and language difficulties to a problem in
this area. Therefore, intact performance on an the child’s functioning, a significant concern
executive function (EF) test should not be con- regarding language abilities typically also mer-
sidered adequate evidence of intact EF. Often its a full speech and language assessment (see
some subdomains of EF are intact while others John, Part 7).
are impaired in a child with a neurodevelop-
mental disability. By school age, delineation of ■ ■ ■ John, Part 7
performance in specific subdomains (e.g., inhi-
bition/impulse control versus planning or self In John’s case, basic language abilities related
monitoring) is informative for targeting specific to phonology, semantics, and syntax were very
interventions (e.g., interventions to support and strong and supported fluent reading, decoding,
improve weak working memory are quite dif- excellent vocabulary, and a sophisticated use
ferent than those targeting impulse control or and understanding of words and sentence syn-
flexibility; see John, Part 6). tax. His communication deteriorated, however,
as executive demands to organize and inte-
grate information into paragraphs or as prag-
John, like many children with high-functioning matic language demands to use gestures and
autism spectrum disorders, had specific EF eye contact increased. Finally, inflexibility drove
him to be overly precise in his use of language (e.g., multiple choice) and learning simpler
and interfered with his ability to maintain a con- data. A neuropsychological evaluation should
versation about topics that were not intrinsically provide specific insight into how a child learns
interesting to him. best and in which learning conditions the child
will require extra support (for example, only
Visual Processing during lectures, written responses, or inde-
pendent reading). Optimizing learning is a key
The brain supports a variety of visual process-
intervention for all children, since their major
ing abilities, including perception and spatial
academic task is to learn new information (see
location. Right hemisphere posterior brain
John, Part 9).
structures are frequently involved, although the
neural underpinnings of visual processing are ■ ■ ■ John, Part 9
complex (see Baron, 2004, for review). Visual
processing is closely associated with visual con- In John’s case it was useful to delineate the dif-
struction skills, which also require motor out- ference between his prodigious learning and
put; perception of visual gestalts; and visual memory abilities for small chunks of informa-
pattern recognition, often associated with visual tion, such as words, facts, and mathematic oper-
reasoning. All of these skills rely on intact or ations, but much greater difficulty learning and
corrected vision. Isolated deficits in this domain
retrieving from memory large chunks of informa-
are not common in neurodevelopmental dis-
abilities, and it is important to recognize that tion. In the assessment he struggled with learn-
a significantly lower Wechsler Performance ing and remembering a large, complex abstract
IQ score than Verbal IQ score cannot be inter- figure, and in his daily life he struggled to learn
preted in isolation to indicate a perceptual defi- from his experiences.
cit (see John, Part 8). Such a discrepancy can
result from many different conditions, includ- Social Cognition
ing executive dysfunction and highly enriched Current research reveals that social perception
verbal teaching at home and at school. A true and cognition rely on fronto-temporal brain
deficit in this domain should be confirmed with networks and that the brain makes specific con-
performance data other than IQ scores, such as tributions to a person’s ability to perceive social
scores on tests of visual learning and memory. stimuli, such as faces, facial expressions, voice
intonation, and body language. The brain also
■ ■ ■ John, Part 8 reasons with social information, such as under-
John’s IQ scores showed a significant discrep- standing human relationships and having a
ancy between very superior Verbal IQ and aver- theory of mind; this social reasoning ability is
commonly referred to as social cognition (for
age Performance IQ. Yet, he was a gifted math
reviews see Frith & Frith, 2007, 2010; Pelphrey
student and had strong visual learning abilities.
& Carter, 2008). However, our ability to mea-
Observation of John’s approach to the tasks sure social cognition with standardized tools is
that constitute the Performance IQ revealed still quite limited. With the exception of basic
that his inflexibility and tendency to focus on social perception tasks that measure learning,
details slowed his performance and reduced his memory for faces, and recognition of facial
score, implicating executive dysfunction, not a expression, measuring social cognition largely
perceptual deficit. relies on parent and teacher report, observa-
tion, and responses in structured interviews.
Learning and Memory For planning successful interventions, it is
While true memory impairments are relatively essential to have an understanding of whether
rare in children with neurodevelopmental dis- a child with a neurodevelopmental disability
abilities, learning deficits are common (Baron, can accurately perceive and express social cues,
2004). Learning can be impaired for visual or have a theory of mind, and reason with social
verbal information in the context of core defi- information.
cits in language or visual processing. Executive
dysfunction also typically interferes with effec- Motor/Sensory
tive information retrieval in response to open- The motor sensory domain encompasses a
ended queries (e.g., “How was your day?”) and broad range of gross and fine motor abilities as
learning larger amounts of information, but not well as sensory perception. Standardized motor
information retrieval in structured conditions tasks eliciting speed, strength, and dexterity,
such as quickly placing pegs in a board, tracing of contextual factors described above. They
a curvy line, or imitating a gait or hand move- reflect how successfully the child is coping with
ment, all can provide information about the the demands of daily living (e.g., showing age-
subtle motor impairments often seen in neuro- appropriate toileting, dressing, grooming, com-
developmental disabilities. These impairments munication and social skills) and accumulating
can profoundly affect a child’s ability to produce academic knowledge and skills.
written work at school, carry out key activities
of daily living, or simply stay sitting upright in
his or her chair. A complex or pervasive motor
ENSURING
difficulty often merits a physical and/or occupa- THAT ASSESSMENT
tional therapy evaluation. Sensory information INFORMS MANAGEMENT
regarding visual, auditory, and tactile percep-
tion can also be collected with standardized Useful Assessments Are Driven
assessments and can be particularly important by Appropriate Referral Questions
for children with focal brain damage. Over- and
undersensitivity to sensory stimuli is a promi- Neuropsychological assessment can answer or
nent finding in autism and is best assessed by provide input on a wide range of questions, but
observation and parent or teacher report. there are at least as many questions that it can-
not, or should not, answer. A comprehensive
Emotional Adjustment neuropsychological assessment can often pro-
vide input in the following areas: 1) diagnostic
Emotional adjustment should be evaluated in
clarification, 2) the child’s level of develop-
any comprehensive assessment because it has
mental or cognitive functioning, 3) patterns of
a major impact on the child’s overall function-
strengths and weaknesses, 4) school placement
ing level, the intervention plan, and specific
or program eligibility determinations, 5) prog-
neurocognitive functions. Mood, anxiety, and
ress or deterioration over time, 6) forensic
any other emotional difficulties interfering
issues, and 7) suggestions for treatment. Assess-
with the child’s functioning and ability to regu-
ment can rarely definitively answer questions
late mood and behavior should all be assessed.
such as “What caused this to happen?”
These data may inform diagnosis of comorbid
A good referral request asks a clear,
psychiatric disorders. They may also indicate
answerable question. Some examples of appro-
alternative explanations for cognitive impair-
priate questions would be whether the child has
ments. For example, working memory can be
autism, whether the child’s difficulties are due
impaired by anxiety; depression slows down
to language or attention problems, or whether
motor response and generally impairs perfor-
the child is receiving appropriate services and
mance on tasks requiring cognitive effort; and
making the expected level of progress. Provid-
even hallucinations occur in a small number of
ing the evaluator with information about the
children, which certainly interfere with atten-
strengths and weaknesses of the child, the fam-
tion (Eysenck, Derakshan, Ferreri, & Lapp,
ily system, and the current educational plan will
2011; Porter, Bourke, & Gallagher, 2007; San-
increase the utility of the assessment. Speci-
tos & Calvo, 2007). Parent, teacher, and child
fying which exact tests should be given is not
report on standardized measures, as well as a
useful. There may be very good reasons for not
qualitative report of symptoms and concerns,
giving a certain test, such as any of the threats
are useful. In addition to an interview with the
to validity described below.
child, which can be play-based with a younger
child, the child’s response to projective mea-
An Understanding
sures is also often used. Projective measures
present incomplete or ambiguous stimuli (such of the Purpose and Limits
as drawings, sentence beginnings, or inkblots) of Psychometric Data Informs
and are designed to elicit information about the Effective Use of Assessment Results
child’s internal state. When selected, administered and scored appro-
priately, standardized test instruments provide
Adaptive/Academic important normative benchmarks against which
Adaptive and academic functioning are best to compare performance. They complement
thought of as outcomes of the pattern of nonstandardized data and provide key informa-
strengths and weaknesses in a child’s core cog- tion about how a child’s abilities compare with
nitive domains, combined with the full range same-age typically developing children. One
study (Meyer et al., 2001) compared psycho- same way every time (i.e., the administrator
logical tests with medical tests like magnetic must “stick to the script”), 3) the exact same
resonance imaging, Pap smears, and electro- materials are used every time; and 4) rules for
cardiograms and found that psychological tests scoring are specifically defined and are not sub-
generally predict outcomes just as well as medi- jective (Sattler, 2001).
cal tests do.
The term psychometrics refers to the branch What Does It Mean
of psychology addressing the design, admin- for a Test to be Reliable?
istration, and interpretation of quantitative Reliability is a measure of how consistent a score
(numerical) tests for the measurement of psy- is over time (test-retest reliability), between
chological factors such as intelligence, apti- examiners (inter-rater reliability), across differ-
tude, and personality traits (Upton & Cook, ent forms of the test (alternate forms reliabil-
2008). Psychometric approaches have proven ity), and within the items of the test (internal
to be extraordinarily useful over time but have consistency). Reliability can be affected by the
been criticized for being overly reductionistic. length of the test, variability in the normative
The inherent limitations in the psychometric sample, the difficulty range of the items (it is
approach are part of why standards typically are important that items are neither too difficult
set for training and experience for professionals nor too easy), and how well the administration
to meet in order to be able to purchase psycho- and scoring procedures are described.
logical tests and be licensed to administer and Most children with neurodevelopmen-
interpret those tests (American Educational tal disabilities receive neurocognitive testing
Research Association, American Psychological repeatedly to monitor their development and
Association, & National Council of Measure- the efficacy of the interventions they receive.
ments in Education, 1999). This sets a very The evaluator should always review the child’s
high standard for the appropriate interpretation previous testing and compare the results to the
of any test score and should caution unqualified current scores. Yet, even a cognitive test with
people against attempting to interpret scores. good test-retest reliability may produce differ-
Psychometric measures should be inter- ent scores over time. More score consistency
preted with caution for many reasons. Psy- should be expected as the child gets older. The
chometrics do not model the neural substrate 2-year stability of scores on a cognitive skill is
(e.g., a test score does not map neatly onto likely to be greater for a school-age child than
brain regions or functions) or place behav- for a toddler, for example (Youngstrom et al.,
ior in context. Further, psychological tests are 2010). Changes in standard scores can occur for
rarely pure (e.g., they do not measure only the a variety of reasons, including 1) administration
domain they are supposed to measure), are not of newer versions of tests with more up-to-date
completely objective (e.g., variability in exam- normative data; 2) increased demands within
iners or cultural factors can have a significant tests for specific skills such as executive func-
impact on scores), and are not always reliable tions as children get older; 3) cumulative effects
and even less often valid. The results of any of lost learning opportunities due to an under-
psychometric measure are only as good as the treated learning disability; 4) natural variabil-
measure itself. The largest factors that con- ity in a child’s performance on tests, which is
tribute to score accuracy include 1) the use of particularly common in children with develop-
standardized procedures; 2) the reliability of the mental disabilities like ADHD and autism; and
test; 3) the validity of the test; and 4) the qual- 5) in very rare cases, a progressive neurologi-
ity, size, recency, and diversity of the normative cal process. In the last situation, other signs of
sample (Anastasi & Urbina, 1997; Pedhazur & decline typically are present, such as parent and
Schmelkin, 1991; Streiner & Norman, 1995). teacher report of reduced performance at home
Described below are some of the most impor- and at school and declines in adaptive behav-
tant psychometric factors a neuropsychologist ior. Any concern about drops in scores should
considers. be carefully reviewed with the conductor of the
assessment in order to evaluate possible causes.
What Does It Mean for
a Test to be Standardized? What Does It Mean for a Test to be Valid?
A test is standardized if 1) it has exact procedures A test is valid if it accurately measures what it
for administration, including the qualifications is supposed to measure. A well-standardized
of the administrator; 2) it has instructions and test has undergone many different types of
questions that must be repeated in exactly the checks for validity under controlled situations.
However, most tests are used outside of these generate a standard score. The larger and more
controlled situations, and therefore the evalu- diverse the normative sample is, the more useful
ator should tell the reader of the report how this standard score is. Cultural, linguistic, and
valid he or she believes the child’s assessment to physical factors that the child does not share
be, and how predictive the assessment is likely with the normative sample will reduce its utility.
to be of the child’s functioning. For instance, The normative sample also must be recent, as
most individually administered tests (such children’s scores in the population change over
as IQ tests) are not valid if repeated within time. For example, cognitive intelligence scores
6–12 months because practicing the tasks have been shown to increase by about three
improves performance on those tasks. Child- standard score points per decade (Flynn, 1999).
specific factors can also reduce the validity of
a test result. Was the child hungry, tired, ill, What Is a Standardized
or distracted? Was the child taking any medi- Score (How to Interpret a Score)?
cation that could affect results? Cultural fac- Standardized scores are statistically derived
tors should always be considered as a potential from the normative sample during test devel-
threat to validity; a test’s questions may contain opment. All standardized scores assume that
content and assume knowledge that are foreign the scores range according to a normal dis-
to the child’s environment. For example, a child tribution (see Figure 16.2). There are several
from Taiwan may not be able to correctly cat- types of standardized scores. Test scores can be
egorize the fruits we typically eat in the United expressed as follows:
States. Poor performance relates to the child’s
culture, not to her categorization or abstract 1. Age or grade equivalents. Performance is
thinking ability. Sometimes a certain child will typical of a specific age group or grade
need accommodations during testing, or will level in the normative sample. Age and
need to be given special tests, and the report grade equivalents should not be used for
should acknowledge these factors, and how making diagnostic or placement decisions
they affect validity. A child with cerebral palsy because of their low reliability and validity
(CP) or other physical disabilities may need to (Bracken, 1988; Reynolds, 1981). Unfor-
be given motor-free tests, and even verbal tests tunately, these flawed scores are the most
should not be timed. When a child with a lan- intuitive of the standardized scores and are
guage disorder is assessed in other domains, the most easily understood by parents and
nonverbal tests should be given (such as the teachers.
Leiter or the Comprehensive Test of Non-Ver- 2. Percentiles. Rank of the child’s relative posi-
bal Intelligence). A child who speaks a different tion in the normative sample. For example,
language should either receive nonverbal tests a child’s score at the 80th percentile means
or a test that has been translated and standard- that the child performed better than 80%
ized in the child’s native language. Some test- of children in the sample.
ing accommodations are less dramatic, such as 3. Deviation scores. The child’s performance
allowing the child to stand or move around the in relation to the distance from the mean
room, instituting reward systems, and breaking in terms of standard deviations (SD). The
the testing up into several sessions. But these standard deviation of a score is a measure
accommodations should be noted in the report, of how much variability there is in scores in
as the validity of the findings may be tied to terms of distance from the mean (average).
them. Practically speaking it is also helpful to Standard Scores, Scale Scores, T Scores,
alert teachers and parents to specific accommo- and Z scores are all deviation scores. Stan-
dations that are likely to improve performance dard Scores typically have a mean of 100
at home and at school. and a SD of 15. Scale Scores typically have
a mean of 10 and a SD of 3. T Scores have
Why Is It Important for a a mean of 50 and a SD of 10, and Z Scores
Test to be Norm-Referenced? have a mean of 0 and a SD of 1.
A test is norm-referenced if it has been given Most children (about 68%) obtain scores
to a large number of people (the sample) who within 1 SD of the mean. These scores are con-
are representative of the population of inter- sidered “average.” The further a score is away
est. An individual child’s performance is mea- from the mean, the fewer children obtain that
sured against the performance of all others the score. Figure 16.2 represents what is commonly
child’s age in the normative sample in order to referred to as the “Bell curve” or the normal
Figure 16.2. The normal curve.
distribution of scores in a group of individuals. same is true in referrals for neuropsychological

The area under the curve represents the num- assessments. Presentation of cognitive strengths
ber of children obtaining that score. If Figure and weaknesses, appropriate diagnoses, primary
16.2 represents a total of 1,000 children, then risks, and recommendations should all be com-
680 children would obtain scores in the area municated in a collaborative conversation and
of the curve representing the “average range.” in language that both the referring professional
However, only one child would obtain a score and the parents can understand.
in the small area under the curve in the “very An assessment’s utility is determined by its
superior range,” which is the area of the curve usefulness and intelligibility to family and treat-
4 SDs above the mean. The general labels used ment team of the child being assessed.
to describe scores are depicted on Figure 16.2, Often the largest intervention resulting
but each test may also use their own descriptive from an assessment is simply to see the child’s
labels, depending on what the test is measuring. behavior in a new light. For example, a child
For example, a child who scores very low on who was described by the teacher as unmoti-
an anxiety measure, such as a T Score of 20, is vated can now be seen as a child with short-
not said to be “deficient” of anxiety symptoms. term memory problems, an attention disorder,
Instead, a T Score of 70 on the anxiety mea- or depression. This reframing of the problem
sure may be described as “clinically significant,” can then lead to teachers, parents, and other
meaning that the score indicates noteworthy adults changing their intervention strategies
anxiety symptoms. and interactions with and expectations of the
child. In turn, this can then lead to a difference
Effective Feedback and in how the child sees him- or herself. The first
Dissemination of Findings step in this reframing process is to confirm that
the parents understand the assessment results.
A recent meta-analysis (Poston & Hanson,
Follow-up questions regarding what was com-
2010) shows that when psychological assess-
municated during the assessment feedback ses-
ment and the sharing of assessment results is
sion are important because misunderstandings
done in a collaborative fashion with the patient/
are common. Provision of resources that will
family, and the feedback is offered in a sensitive,
help the family move towards a greater under-
clinically meaningful manner, the assessment
standing of their child’s strengths, weaknesses,
process itself functions as a therapeutic inter-
risks, needed interventions and accommoda-
vention. Effective communication of assessment
tions, and prognosis may enable parents to be
results is essential for optimizing the power of
their child’s best advocate.
an assessment as an intervention tool. When a
child is referred for a medical specialist’s con-
sult, the professional making the referral wants
Implementation
the specialist’s interpretation and integration of of Recommendations
information to answer the referral question and The next step is to make sure that a plan is in
to suggest avenues of treatment, if needed. The place so that all necessary recommendations
can be implemented. This can be an over- speech-language therapy), and those services
whelming process for parents, particularly if may be provided in a mainstream classroom,
their child needs multiple types of interven- resource room, special classroom, or special
tions and accommodations. It is important to school, depending on the student’s needs. Every
help parents recognize that many assessments student has a right to an appropriate education
provide recommendations meant to be imple- in the least restrictive environment possible (See
mented over a period of several years. Priori- Chapter 31). School-based services are gener-
tizing among recommendations and identifying ally well-coordinated across disciplines. The
key initial targets for intervention can be help- quality of school-based services varies widely,
ful. Very often, recommendations will call however, from county to county and sometimes
for changes in both school-based and home/ even from one school to another. Having an
outpatient-based services (see John, Part 10). outside professional review the services a child
is receiving and monitor the progress the child
■ ■ ■ John, Part 10 is making is helpful for many families. If the
family needs extra help navigating the school-
John’s assessment report led to several sig-
based meetings, they may want to hire an
nificant changes. Perhaps most importantly, his
educational specialist/advocate, a professional
parents and teachers became better able to dis- who knows the laws and the local schools, or a
tinguish his “can’ts” from his “won’ts.” He was special education attorney if the family is head-
provided with some social coaching to help him ing towards mediation or due process. The
read social cues and understand how his behav- free-access web site http://www.wrightslaw.com
ior can seem rude to others. He got an IEP in has more information on advocating for special
school, which allowed him to use extra supports education services.
for writing assignments and provided special-
ized speech and language therapy targeting Home/Outpatient-Based Services
language pragmatic and formulation skills and Getting services through a disconnected ser-
special education services targeting execu- vice system, as most out-of-school systems are,
tive functions and writing. In addition, he got requires active advocacy skills from parents.
help from a peer buddy on the playground to Parents often find themselves filling multiple
ensure inclusion in games and activities. John’s roles, including case manager and treatment
school services were supplemented by outpa- coordinator, as well as having to obtain insur-
ance authorizations, schedule and transport
tient services in social skills training and anxiety
their child, and act as a treatment provider at
reduction techniques by a skilled therapist. His
home. Many parents need help in this process
parents also received some coaching in how to regarding the identification and coordination
organize John’s day and to set up a comprehen- of treatment team members. Every treatment
sive reward system. provider and key school personnel should see
the assessment report. Contact is vital among
School-Based Recommendations the team through e-mail or other means to
School-based services in private schools are coordinate response to the assessment and the
up to the discretion of the school. Some pri- care plan. If the child’s needs are complicated, a
vate schools offer specialized services to stu- short conference call is useful to make sure that
dents, but they are not required to do so and everyone has the same information and there
may charge an additional fee. There are three is consistency across settings. Over time, it is
options for services in public schools: 1) infor- useful to review recommendations and discuss
mal supports and accommodations negotiated suggestions that have not yet been tried, or next
with the child’s teacher and/or the student sup- steps in treatment. Risk factors identified in the
port team, 2) a 504 plan to provide formalized report should also be monitored. Too often, an
accommodations that will allow a student with evaluation is reviewed once and then ignored,
a disability to access the general curriculum, when in fact it should contain data relevant to
or 3) an individualized educational plan (IEP) the treatment plan for a school child for sev-
to formulate specific and measurable goals. In eral years after the assessment. The final step
order to make progress towards meeting those of effective implementation of an assessment is
goals, formalized services must usually be pro- following up at the appropriate time for recom-
vided to the student (e.g., special education or mended reevaluations.
SUMMARY case for the development and use of ‘ecologically

valid’ measures of executive function in experimental
The primary purpose of neuropsychological and clinical neuropsychology. Journal of the Inter-
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jad.2007.06.006
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Chapter 16 Appendix Examples of widely used neurodevelopmental measures organized by functional domain [1].
282
Age range
(yrs unless
Measure Scale name Admin. time Advantages Disadvantages References
otherwise
indicated)
General intelligence
Bayley Scales of Infant Adaptive Behavior, Cognitive, 1–42 months 50–90 min One of the only instruments Difficult to administer and [2]
Development, Third Language Composite, Motor available in the age range, confounded by significant
Edition (Bayley-III) Composite recently restandardized, language demands
extended floors and ceilings,
improved evidence of reli-
ability and validity
Mullen Scales of Early Early Learning Composite Birth to 68 ~15 min (for Limited language demands Old normative data [3]
Learning (AGS Edition) Gross Motor; Visual Reception; months 1-year-olds)
Fine Motor; Receptive Lan- to 60 min
guage; Expressive Language (for 5-year-
olds)
Wechsler Intelligence Full Scale, Verbal 6–16 60–90 min Most widely used test of Not tied to strong theory of [4]
Scales for Children— Comprehension,Perceptual cognitive ability in children intelligence; relatively weak
Fourth Edition Reasoning, Working Mem- and adolescents; excellent assessment of processing
(WISC-IV) ory, Processing Speed norms; familiar; stronger speed
measurement of working
memory than previous
Wechsler Adult Intelli- Full Scale 16–89 60–90 min Reliable, good norms, com- Not tied to strong theory of [5]
gence Scales (WAIS-III) Verbal, Performance, Verbal monly administered intelligence; relatively weak
Comprehension, Percep- assessment of processing
tual Organization, Working speed and working memory
Memory, Processing Speed
Wechsler Abbreviated Full Scale, Verbal, Performance 6–89 30 min Validated as a brief measure No coverage of processing [6]
Scale of Intelligence of verbal, nonverbal, and speed, working memory, or
(WASI) general cognitive ability; other aspects of cognitive
very precise scores; Matrix ability
Reasoning can be adminis-
tered nonverbally
Comprehensive Test of Pictorial Analogies, 6–89 years 40–60 min Minimizes cultural bias, good Less predictive of some [7]
Nonverbal Intelligence Geometric Analogies, 11months for children with language aspects of functioning than
(CTONI-2) Pictorial Categories, disorders verbally loaded scales
Geometric Categories,
Pictorial Sequences,
Geometric Sequences
Leiter International Visualization & Reasoning (VR); 2–21 40 –90 min Covers wide age range; Special training may be [8]
Performance Scale- Attention & Memory (AM) minimal bias across cultures; needed for good standard-
Revised strong theoretical model ization; AM subtests not very
guiding revision stable over time
Differential Abilities General Cognitive Ability, Ver- 2.5–17 years 60 min Good norms, conceptual No working memory or pro- [9]
Scale–II (DAS-II) bal Ability, Nonverbal Ability, 11 months model, strong psychomet- cessing speed
Spatial Ability rics, nonverbal subtests can
be administered without
language
Attention
Conners’ Continuous Total Score 6–18 5–20 min Parent, teacher, and youth Cumbersome to score without [10]
Performance Test (also a short form, a DSM form, forms; includes DSM-IV computer software; short
(3rd ed) and a global form) content; extensive research forms validated in embed-
base; includes validity scales ded version (not separate
administration)
Continuous Performance Sustained attention, 3+ 15–20 min Standardized task that mea- Relatively small number of [11]
Test–II (CPT) Omissions, d Prime, sures multiple performance minorities included in the
Commissions, facets of attention norm sample; overall mild
Variability, correlations between CPT
Standard Error and ADHD rating scales
Executive functioning
Behavior Rating Inven- Global Executive Composite 2 to adult 10–15 min Parent and teacher forms; inex- Parent ratings are susceptible [12]
tory of Executive pensive; collateral source of to bias; report of everyday
Functioning (BRIEF) information about executive executive function does not
functioning. Comprehensive necessarily accurately parse
coverage of subdomains subdomains of executive
of executive functioning; function. Normative sample
ecologically valid measure; not nationally representa-
used extensively in research tive; variable correlations
with good sensitivity; easy to between scores and underly-
administer and complete ing processes
283
(continued)
Chapter 16 Appendix (continued)
284
Age range
(yrs unless
otherwise
indicated)
Executive functioning (continued)
Rey Complex Figure Test Copy Strategy 6–89 45 min, New manual (1996) improves Wide developmental varia- [13]
including 30 scoring criteria and guide- tion and limited norma-
min delayed lines, as well as norms. tive sample compromise
interval Developmental scoring sensitivity. Scoring system is
norms capture problem- complex and prone to error;
solving strategy (as opposed requires specific training for
to outcome score), which is adequate accuracy
a key correlate of executive
functions that is often not
addressed
Wisconsin Card Sorting Perseverative Errors 6.5–89 years 20–30 min Relevant construct for neuro- Difficult to reliably score if not [14]
Test (WCST) 11 months toxicity using computer administra-
tion; not representative
norms; complex relationship
between scales and execu-
tive function
Language
Goldman-Fristoe Test Sounds in Words; Sounds in 2–21 15–30 min Strong standardization sample; Technical information based on [15]
of Articulation, 2nd Sentences; Stimulability good norm-referenced administrations by speech
Edition scores pathologists; unclear how
results would vary with less
trained raters; use with
caution with speakers of
nonstandard English
Preschool Language Auditory Comprehension; Birth to 6 20–45 min New norms; Spanish version Standardized only in English; [16]
Scale, 4th Edition (PLS) Expressive Communication years 11 available (though less techni- no information about how
months cal data available) bilingual status influences
performance (though ~7%
of sample was bilingual);
potential for marked vari-
ability in administration and
scoring means that a high
degree of training is needed
for consistency
Clinical Evaluation of Expressive Language, 5–21 (pre- 30–45 min Easy to learn; computer- 18 subtests if do full battery; [17]
Language Fundamen- Receptive Language school assisted scoring; focuses on low reliability for a few
tals (4th edition) (CELF) version also specific skills and areas of subtests
available) functioning (versus achieve-
ment)
California Verbal Learn- Verbal learning, memory 5 to adult 30–50 min Widely used test of verbal [18]
ing Test (CVLT) learning and memory, short,
measures recognition and
recall
Test of Problem Solving Pragmatic Language 6–12 years 11 35 min Assesses language-based criti- Lengthy to administer [19]
Child and Adolescent months cal thinking skills
(TOPS 3 Elementary)
Visual perceptual
Beery Visual Motor Inte- Total Score, 2–18 for full 10–15 min Culture free, easy to adminis- Scoring somewhat difficult [20]
gration (5th edition) Visual, Motor form ter, used in many countries
Performance subtests Block Design, Digit Cancella- Various Various Well-normed; clear scoring; Not validated as stand-alone [4, 9]
from IQ measures tion, Copy, etc. readily available tests; scores on single scale
(e.g., WISC, DAS) driven by multiple factors
Learning/Memory
Wide Range Assessment Visual Memory Index, Verbal 5–84 years 60 min for Wide age range; new norms; Lengthy administration time; [21]
of Memory and Memory Index, Attention/ 11 months all core stronger factor structure than often only specific subtests
Learning (WRAML-2) Concentration, General subtests earlier version are used
Memory Index, Screening
Memory Index
Social cognition
Social Responsiveness Total, Social Cognition, Social 4–18 15 min Exceptional evidence of con- Norms not fully nationally [22]
Scale (SRS) Communication, Social struct validity; inexpensive to representative
Parent and teacher forms Awareness, Autistic Man- administer
nerisms
Autism Diagnostic Communication, Social, Repet- Toddler to 45 min Language-based modules, Difficult to administer and [23]
Observation Schedule itive interests/behaviors adult good validity, play- and score reliably, extensive
(ADOS) interview-based assessment training needed
Autism Diagnostic Inter- Communication, Social, Repet- 4 to adult 1½ to 2½ Comfortable for parents, Retrospective parent report, [24]
view, Revised (ADI) itive interests/behaviors hours thorough difficult to administer and
score reliably, extensive
285
training needed, lengthy

(continued)
Chapter 16 Appendix (continued)
286
Age range
(yrs unless
otherwise
indicated)
Motor/Sensory
Peabody Fine Motor Quotient, Birth to 72 2–3 hours Minimal training needed Limited data on children with [25]
Developmental Motor Gross Motor Quotient, plus 9 months (20–30 min because of clear instructions special needs; kit does
Scales subtest scores per subtest) and objective scoring; easy not include all materials
to administer needed for administration;
small objects are a choke
hazard and need cleaning if
mouthed
Digital Finger-tapping Digital Finger Tapping Various 10 min with Easy to administer; electronic Poor norms; limited psycho- [26]
norms; scoring counter enhances accuracy metric data; primarily suited
college to research use with com-
student for parison groups
digital ver-
sion
Finger Tapping Finger Tapping 15–64 10 min with Easy to administer; widely Small and dated norms [27]
(Halstead-Reitan) scoring recognized test
Finger Tapping (Findeis Finger Tapping 5–14 10 min with Easy to administer Pools data from 20 different [28]
and Weight Meta- scoring studies to create “norms”
Norms)
Emotional adjustment
Achenbach Child Behav- Total Problems, Externalizing, 1.5 to young 10–15 min Multiple versions, multiple Omits some content likely to [29]
ior Checklist Internalizing, Attention adult informants, forms and norms be relevant, including theory
Problems for multiple age ranges, of mind, mania scale; scales
large research and clinical do not map directly onto
literature with wide variety of psychiatric diagnoses
medical conditions
Aberrant Behavior Irritability, Lethargy, Stereotypy, 5–51+ ~5 min for Good content coverage; sensi- Manual provides incomplete [30]
Checklist (ABC) Hyperactivity, Inappropriate a rater tive to treatment effects psychometric information;
Speech familiar with although often used as par-
subject’s ent or teacher rating, less
behavior validation of these formats
Infant-Toddler Social and Problem Total; Competence 12–35 months 20–30 min Parent form, parent interview Little technical information [31]
Emotional Assessment Total; also Externalizing, form, and child care provider about child care provider or
(ITSEA) Internalizing, Dysregulation, form; Spanish translation Spanish forms
Competence, and Maladap- available; brief screening
tive Item Clusters version (BITSEA)
Adaptive/Academic
Adaptive Behavior Parent Form Global Assess- Birth to adult 15–20 min Multiple versions for different Like any parent checklist, ABAS [32]
Assessment System–II ment of Competence ages and parents and day is susceptible to misinterpre-
(ABAS) care providers; extensive tation and bias
construct validity
Vineland Adaptive Parent Interview Edition 0–18 20–60 minutes Well validated in multiple Time and expertise intensive [33]
Behavior Scale–II Parent Form 2–21 15–20 min clinical groups measure for the interview
(VABS) Teacher Form Self-report version; multiple version; can take more than
versions for different ages 1 hour to complete. Admin-
and parents and day care istration of interview version
providers; extensive con- requires expertise gained
struct validity through graduate level train-
ing programs in psychology
or social work
Wide Range Achieve- Word Reading, Sentence 5–94 years 15–25 min for Short, alternative forms allows Captures basic learning dif- [34]
ment Test 4 (WRAT-4) Comprehension, Reading 11 months ages 5 to 7 retesting, part can be admin- ficulties with reading decod-
Composite, Spelling, Math for whole istered in group format ing, and math computation,
Computation test; 30–45 but is not sensitive to learn-
min for over ing disabilities associated
age 7 for with executive function,
whole test processing speed, motor
output, reading comprehen-
sion, or written expression
Woodcock-Johnson–III Academic Fluency Subtests 2–90+ Variable, ~5 Relatively easy to administer; Moderately old norms [35]
min per test sensitive to the effects of
processing speed and
motor output deficits on
academics
Source: Adapted from Youngstrom, E., LaKind, J.S., Kenworthy, L., Lipkin, P.H., Goodman, M., Squibb, K., ... Anthony, L.G. (2010). Advancing the selection of neurodevelopmental measures in epide-
miological studies of associations between environmental chemical exposure and adverse health Effects. International Journal of Environmental Research and Public Health, 7, 229–268. doi:10.3390/
ijerph7010229. © 2010 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland. This article is an open-access article distributed under the terms and conditions of the
Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
287
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III
Developmental
Disabilities
17 Developmental Delay
and Intellectual Disability
Bruce K. Shapiro and Mark L. Batshaw

■ Understand the definition of developmental delay and implications of the terms
mental retardation and intellectual disability
■ Be aware of the various causes of intellectual disability
■ Recognize the various interventions in intellectual disability
■ Be aware of the different levels of functioning and independence that individu-
als with intellectual disability can achieve
The term global developmental delay is most suck was weak, and he frequently regurgitated
commonly used as a temporary diagnosis in his formula. He was floppy and had poor head
young children at risk for developmental dis- control. His cry was high pitched, and he was
abilities, especially intellectual disabilities. In difficult to comfort. He would sit in an infant seat
this context, it indicates a failure to achieve age- for hours without complaint.
appropriate neurodevelopmental milestones in In social and motor development, Daniel
the areas of language, motor, and social-adaptive
lagged behind the norm. In language skills,
development (Beirne-Smith, Patton, & Kim,
he did not start babbling until 13 months (6
2005). It is often but not always predictive of a
future diagnosis of intellectual disability (Riou, months). He smiled at 5 months (2 months) and
Ghosh, Francoeur, & Shevell, 2009). was not very responsive to his parents’ attention.
In terms of gross motor development, Daniel
■ ■ ■ DANIEL could hold his head up at 4 months (1 month),
Daniel’s mother, Marina, noticed many signs roll over at 8 months (5 months), and sit up at 14
in his early development that indicated atypi- months (6 months). He transferred objects from
cal development. (In the following paragraphs, one hand to the other at 14 months (5 months).
the typical ages for these developmental mile- When evaluated with the Bayley Scales
stones are indicated in parentheses after the of Infant Development—Third Edition (BSID-
age at which Daniel achieved them.) III; Bayley, 2006) at 16 months of age, Daniel’s
As an infant, Daniel showed little inter- mental age was found to be 7 months, and
est in his environment and was not very alert. he received a mental developmental index
Although Marina tried to breastfeed him, his (MDI; similar to an IQ score) of less than 50.
291
292 Shapiro and Batshaw
He progressed from an early intervention pro- the Parent Evaluations of Developmental Sta-
gram to a special preschool program. Prior to tus [PEDS; Glascoe, 1997; see also http://www.
school entry at age 6, Daniel was retested on pedstest.com]). In 2006, The American Acad-
the Stanford-Binet Intelligence Scales, Fifth emy of Pediatrics et al. developed a system of
Edition (SB5; Roid, 2003). His score indicated developmental surveillance and screening to be
a mental age of 2 years 8 months, and an IQ employed in primary care settings. Unfortu-
nately, many children come from underserved
score of 40. Concomitant impairments in adap-
populations and do not have a “medical home”
tive behavior were demonstrated by the Vine-
with systematic screening, assessment, and fam-
land Adaptive Behavior Scales, Second Edition ily supports (Balogh, Ouellette-Kuntz, Bourne,
(Vineland-II; Sparrow, Bella, & Chrichetti, 2005), Lunsky, & Colantonio, 2008). Furthermore,
which revealed communicative, self-care, and the available developmental screening tests
social skill challenges. themselves are not sufficiently sensitive to
detect many developmental disabilities.
It is important to emphasize that screening
Early Identification of tests are not designed to supplant a formal neu-
Developmental Delay rodevelopmental and psychological assessment
(Shapiro & Batshaw, 2011). They are designed
Global developmental delay is recognized by for use in the general population in order to
the failure to meet age-appropriate expectations identify individuals at risk. The usefulness of a
based on the typical sequence of development. screening instrument is determined by its abil-
In the first months of life, delayed development ity to appropriately classify children who do or
can be manifested by a lack of visual or auditory do not have significant developmental delays—
response, an inadequate suck, and/or floppy that is, its sensitivity and specificity, respec-
or spastic muscle tone. Later in the first year, tively. Sensitivity is the ability to detect affected
lack of language and motor delays in sitting children (measured by the true-positive rate).
and walking may suggest developmental delay. Specificity is the ability to classify typical chil-
When a child continues to show significant dren as typical (measured by the true-negative
delays in all developmental areas, intellectual rate). The ideal screening instrument would
disability is the most likely diagnosis. Unfortu- detect all of the children who require further
nately some medical practitioners continue to assessment (no false negatives) and none of
use the term global developmental delay long those who do not (no false positives). Unfortu-
after a more specific diagnosis of intellectual nately, many screening instruments misclassify
disability can be made. Although developmental too many children to be clinically useful, which
delay is the most common presenting concern speaks to the importance of clinical judgment.
in children who turn out to have an intellectual Given these difficulties, the best approach
disability, sensory impairment, an autism spec- to early identification is multifaceted (Beirne-
trum disorder (ASD), or cerebral palsy, it does Smith et al., 2005). Infants at high risk should
not always indicate a developmental disability. be closely monitored and entered into early
Isolated mild delays in expressive language intervention programs if appropriate (Shapiro
(particularly in boys) or in gross-motor abili- & Batshaw, 2011; see Chapter 30). High-risk
ties usually resolve over time. These mild early conditions include the following:
delays, however, often signal an increased risk
of the child developing academic or behavioral 1. Prematurity (see Chapter 7)
difficulties by school age. 2. Low birth weight (Anderson & Doyle,
Early identification of atypical develop- 2008)
ment is more likely to occur with more severe 3. Perinatal complications
impairments. In order to facilitate early iden-
4. Chronic physical health conditions
tification, all children should receive devel-
opmental surveillance as part of their routine 5. Exposure to environmental hazardous sub-
pediatric care (King et al., 2010; Rydz, Shev- stances (Frederick & Stanwood, 2009)
ell, Majnemer, & Oskoui, 2005). This includes 6. Maternal functioning compromised by
obtaining a history of developmental concerns depression (Tronick & Reck, 2009), sub-
from the parents, recording developmental stance abuse (Bandstra, Morrow, Mansoor,
milestones, and performing a screening test & Accornero, 2010), lack of education
(e.g., the Ages & Stages Questionnaires® (Chapman, Scott, & Stanton-Chapman,
[ASQ; Bricker, Squires, & Mounts, 1999], or 2008), child neglect/abuse (Ayoub et al.,
Developmental Delay and Intellectual Disability 293
2006; Hibbard, Desch, American Acad- Depending on the child’s age and impairments,
emy of Pediatrics Committee on Child he or she also may need to be seen for early
Abuse and Neglect, & American Academy intervention assessment by an early childhood
of Pediatrics Council on Children with educator, advanced practice nurse, speech-
Disabilities, 2007), or domestic violence language pathologist, and/or an audiologist. If
(Koenen, Moffitt, & Caspi, 2003) the child displays motor impairments, physical
7. Low socioeconomic family background therapists, occupational therapists, and possibly
(Huston & Bentley, 2010) a physiatrist should also be involved. Following
the assessment, an individual family service plan
In addition, all parents should be educated
(IFSP) is developed in the context of an early
to look for and report delays in developmental
intervention program (see Chapter 30).
achievement. Clinic staff and primary providers
should routinely note achievement of develop-
mental milestones, much like they note height Defining
and weight. In addition, children should receive Intellectual Disability
neonatal hearing screening and evaluation of
development, behavior, hearing, and vision in The term intellectual disability has been
conjunction with each well-child visit (Ameri- gradually replacing the classic term mental
can Academy of Pediatrics et al., 2006; Gifford, retardation. This change was codified in fed-
Holmes, & Bernstein, 2009; Shapiro, 2011). eral legislation in 2010, when Rosa’s Law was
Parents usually seek an evaluation for enacted. Rosa’s Law changed the term used in
developmental delay once their child fails to federal legislation from mental retardation to
meet specific developmental milestones (Table intellectual disability. The definition of the term
17.1). In early infancy, these include a lack of itself, however, did not change and comes from
responsiveness, unusual muscle tone or posture, the Individuals with Disabilities Education Act
and feeding difficulties (Bear, 2004). Between 6 (IDEA) of 2004 (PL 108–446). It defines intel-
and 15 months of age, motor delay is the most lectual disability as “significantly subaverage
common complaint. Language and behavior general intellectual functioning, existing con-
problems are the most common concerns after currently with deficits in adaptive behavior and
18 months. If there is evidence of a significant manifested during the developmental period,
developmental lag over time, the child should that adversely affects a child’s educational per-
be sent for a comprehensive evaluation. Ideally, formance.”
this evaluation should include an examination by
at least a physician (pediatrician, neurodevelop- Intellectual Functioning
mental pediatrician, developmental-behavioral There is general agreement the definition of
pediatrician, child psychiatrist, geneticist, or intellectual disability requires that a person
pediatric neurologist) experienced in early must have significantly subaverage intellectual
childhood development and/or developmental functioning and impairments in adaptive abili-
disabilities, preferably in tandem with a clinical/ ties with onset during the developmental period;
educational psychologist and a social worker. however, disagreements over the details of this
Table 17.1. Presentations of intellectual disability by age

Age Area of concern
Newborn Dysmorphisms (structural abnormalities)
Major physiologic dysfunction (e.g., eating, breathing)
2–4 months Failure to interact with the environment (e.g., parent suspects child is
deaf or has a visual impairment)
6–18 months Gross motor delay (e.g., sitting, crawling, walking)
18 months to 3 years Language
3–5 years Language
Behavior (including play)
Fine motor (e.g., cutting, coloring)
5+ years Academic achievement
Behavior (e.g., attention, anxiety, mood, conduct)
Source: Shapiro and Batshaw (2002).
definition have arisen for both biological and behavior, whereas it would not be diagnosed in
philosophical reasons. The first controversial an individual with an IQ of 65–70 who demon-
issue in that the definition involves the assess- strates adaptive skills in the typical range.
ment of intellectual functioning. The average Beyond any measurement variability, a
level of intellectual functioning in a population more fundamental concern of some theorists
corresponds to the apex of a bell-shaped curve. is the underlying value of an IQ score. Gard-
Two standard deviations on either side of the ner (1983) challenged the dichotomous (verbal
mean encompass 95% of a population sample versus performance) structure of intelligence
and approximately defines the range of typical assessed by many IQ tests. He proposed that
intellectual functioning (Figure 17.1). By defi- intelligence comprises a wider range of abilities,
nition, the average intelligence quotient (IQ not only the traditional linguistic and logical-
score) is 100, and the standard deviation (a sta- mathematical skills, but also musical, spatial,
tistical measure of dispersion from the mean) of bodily–kinesthetic, and interpersonal charac-
most IQ tests is 15 points. Historically, a person teristics as well. This approach has not gained
scoring more than 2 standard deviations below wide acceptance, as it does not have a clear
the mean, or below an IQ of 70, has been con- neuropsychological or neuroanatomical basis.
sidered to have an intellectual disability. Although it is acknowledged that a single IQ
Statisticians, however, point out that there score averages a person’s cognitive abilities and
is a measurement variance of approximately 5 may not capture all forms of intelligence, there
points in assessing IQ by most psychometric is evidence that a significantly subnormal IQ
tests. In other words, repeated testing of the score is a meaningful predictor of future cogni-
same individual will produce scores that vary tive functioning.
by as much as 5 points (American Academy of However, it must be emphasized that cog-
Pediatrics, 2000). Using this schema, intellec- nitive functioning is not always uniform across
tual disability would be diagnosed in an indi- all neurodevelopmental domains. An example is
vidual with an IQ score between 70 and 75, who found in the study by Wang and Bellugi (1993)
exhibits significant impairments in adaptive comparing neuropsychological testing results
in children with Down syndrome and Williams
syndrome. Although the Full-Scale IQ scores in
both groups were similar, the pattern of cogni-
tive strengths and weaknesses was very differ-
ent. The individuals with Williams syndrome
had much stronger skills in language but much
poorer visual-perceptual abilities than did the
children with Down syndrome. When volu-
metric analysis of magnetic resonance imaging
(MRI) scans was performed, the cortical areas
involved in language acquisition were much
more developed in individuals with Williams
syndrome; conversely the basal ganglia area
that is involved in visual-perception was more
developed in individuals with Down syndrome.
Finally, there are the concerns over predic-
tive validity and cultural bias. Infant psychologi-
cal tests are notoriously poor predictors of adult
IQ scores, although they clearly differentiate
severe impairments from typical functioning.
In addition, cultural bias has been suggested
Figure 17.1. Bimodal distribution of intelligence. The mean as one explanation for differences in IQ scores
IQ score is 100. An IQ score of less than 70, or 2 standard found among individuals from various racial,
deviations below the mean, can indicate intellectual disabil-
ity. The second, smaller curve takes into account individu- ethnic, and socioeconomic groups.
als who have intellectual disability because of birth trauma,
infection, inborn errors, or other organic causes. This explains
why more individuals have severe to profound intellectual
Adaptive Impairments
disability than are predicted by the familial curve alone. (From Individuals fulfilling the diagnosis of intellectual
Zigler, E. [1967]. Familial retardation: A continuing dilemma.
Science, 155, 292–298. http://www.aaas.org Reprinted with disability not only must have limitations in their
permission from AAAS.) intellectual abilities, but these deficits must also
impair their ability to adapt or function in daily approximately 70; moderate intellectual disabil-
life, when compared with peers of similar age or ity if his or her IQ level is 35 to approximately
culture. Indeed, it is the deficits in adaptive func- 50; severe intellectual disability if his or her IQ
tion that bring children to our attention. These level is 20 to approximately 35; and profound
impairments limit or restrict participation and intellectual disability if his or her IQ level is
performance in one or more aspects of daily life below 20–25. This classification has met with
activities, such as communication, social partici- widespread acceptance in the medical commu-
pation, function at school or work, or personal nity, but it should be noted that classification
independence at home or in community settings. solely on the basis of IQ is incomplete and does
The limitations result in the need for ongoing not describe all of an individual’s abilities.
support at school, work, or independent life. It has also been suggested that intellectual
Typically, adaptive behavior is measured using disability should be simply dichotomized into
individualized, standardized, culturally appropri- mild (IQ score of 50 to approximately 70) and
ate, and psychometrically sound tests (American severe (IQ score below 50). This suggestion is
Psychiatric Association, 2011). based on the discrete biological division between
The American Association on Intellectual mild intellectual disability and the more severe
and Developmental Disability (AAIDD; Scha- forms, with different etiologies and outcomes.
lock, Borthwick-Duffy, Buntinx, Coulter, & This dichotomy has not been widely accepted
Ellis, 2009) divided adaptive function into three for clinical purposes because the medical, educa-
domains: conceptual, practical, and socializa- tional, and habilitative needs are quite different
tion. Conceptual skills include such things as between individuals with moderate impairments
language and literacy; money, time, and num- and those with profound impairments.
ber concepts; and self-direction. Practical skills
include the activities of daily living, occupational Required Supports
skills, health care, travel/transportation, sched- The AAIDD takes a different approach in
ules/routines, safety, use of money, and use of the defining the degree of severity of intellectual
telephone. Social skills encompass interpersonal disability, relying not on IQ scores but rather
skills, social responsibility, self-esteem, gullibil- on the patterns and intensity of needed support
ity, naïveté, social problem solving, the ability to (i.e., requiring intermittent, limited, extensive,
follow rules/obey laws, and to avoid being vic- or pervasive support). This definition marks a
timized. The AAIDD definition of intellectual philosophical shift from an emphasis on degree
disability requires deficits to exist in one of the of impairment to a focus on the abilities of indi-
three domains of adaptive behavior. viduals to function in an inclusive environment.
This shift is controversial because it assumes
Classification of that adaptive behaviors can be independent of
cognition and does not provide clear guidelines
Intellectual Disability
for establishing diagnostic eligibility of children
Intellectual disability is a heterogeneous group with IQ scores in the upper limits of the range
of conditions that arise from many different connoting intellectual disability. This chapter
causes and that have many different expres- (and other chapters throughout this book) uses
sions. Although the diagnosis of intellectual the APA’s categories in discussing medical issues
disability is important, the classification of and the AAIDD’s categories in discussing edu-
intellectual disability is as important. Etio- cational and other interventions, emphasizing
logic evaluation, neurobiological mechanisms, the capabilities rather than the impairments of
management, planning, and prognosis are all individuals with intellectual disability.
predicated on the ability to classify the disorder.
There are many methods for classification, but Domains of Disability
this chapter focuses on four: degree of intellec- Another way to classify intellectual disabil-
tual impairment, required supports, domains of ity is to use the terminology developed by the
disability, and etiology. National Center for Medical Rehabilitation
Research (Msall, 2005). This model defines
Degree of Intellectual Impairment five domains: pathophysiology, impairment,
There is controversy about classifying the lev- functional limitation, disability, and soci-
els of intellectual disability. Per the APA (2000), etal limitation (Table 17.2). Pathophysiology
an individual is classified as having mild intel- focuses on the cellular, structural, or functional
lectual disability if his or her IQ level is 50 to events resulting from injury, disease, or genetic
abnormality that underlie the developmen- requiring extensive support). This approach is
tal disability. Impairment refers to the losses also in keeping with the process for developing
that result from the pathophysiological event. an individualized education program (IEP) for
Functional limitation describes the restriction a school-age child (see Chapter 31).
or lack of ability to perform a normal function.
Disability is the inability to perform activities Prevalence of
or limitation in the performance of activities.
Societal limitations focus on barriers to full
Intellectual Disability
participation in society. Table 17.2 illustrates Based on the previous discussion, the preva-
how this system can be applied to children with lence of intellectual disability depends on the
Prader-Willi syndrome, fetal alcohol spectrum definition used, the method of ascertainment,
disorder, and Down syndrome. The advantage and the population studied. The prevalence of
of this approach is that it leads directly from intellectual disability ranges between 6.7 (Boyle
diagnosis to treatment and focuses on how to et al., 2011) and 10.37 (Maulik, Mascarenhas,
overcome limitations. It also acknowledges the Mathers, Dua, & Saxena, 2010) per 1,000.
change in emphasis in the diagnosis of intellec- According to statistics, 2.5% of the population
tual disability from impairment and functional could be predicted to have intellectual disability,
limitations to disability and societal limitations. and another 2.5% could be predicted to have
This is consistent with the move from focusing superior intelligence (Figure 17.1). Of individ-
on the intensity of the disability (e.g., severe) to uals with intellectual disability, the IQ scores of
the support needed to function in society (e.g., 85% should fall 2–3 standard deviations below
Table 17.2. Relationship between disabilities domains and treatment in Prader-Willi syndrome, fetal alcohol
spectrum disorder, and Down syndrome
Functional Societal
Pathophysiology Impairment limitation Disability limitation Treatment
Deletion in chro- Prader-Willi Intellectual Learning and Noninclusive Education
mosome 15 syndrome disability adaptive skills school Activities to
Feeding below age settings promote
disorder level Stereotyping weight loss
Obesity because of
obesity and
intellectual
disability
Underestimat-
ing abilities
In utero alcohol Fetal alcohol Intellectual Learning and Noninclusive Education
exposure spectrum disability adaptive skills school Mental health
disorder Behavioral below age settings Interventions as
disturbances level but Stigma because required
variable of etiology
Severe hyper- Overestimat-
activity coming abilities
mon because of
variable cog-
nitive profile
Trisomy 21 Down syndrome Intellectual Learning and Noninclusive Education
disability adaptive skills school Programs to
below age settings raise societal
level Stereotyping awareness
because of
intellectual
disability
Underestimat-
ing abilities
Source: Msall, Avery, Tremont, Lima, Rogers, and Hogan (2003).
Note: Even though each child may have similar degrees of intellectual disability, the pattern of disability and type of treat-
ments may vary widely.
the mean, in the range of mild intellectual dis- neurodevelopmental dysfunction. For example,
ability. If individuals who score low on IQ tests a child may have an initial biological insult (e.g.,
because of cultural or societal disadvantage are intrauterine growth restriction [IUGR]) that
excluded from the count of those with mild can be compounded by postnatal environmental
intellectual disability; however, the prevalence variables (e.g., poor nutrition, parental neglect).
is only about half these predictions, somewhere Mothers who never finished high school are
between 0.8% and 1.2% (Heikura et al., 2003; four times more likely to have children with
McLaren & Bryson, 1987). Whatever the mild intellectual disability than are women who
prevalence, intellectual disability appears to completed high school (Mendola, Selevan, Gut-
peak at 10–14 years of age, acknowledging that ter & Rice, 2002). The explanation for this is
children with mild impairments are identified unclear but may involve a genetic component
significantly later than those with more severe (i.e., inheritance of a cognitive impairment) and
impairments. Overall, the recurrence risk in socioeconomic factors (e.g., poverty, poor nutri-
families with one child who has severe intel- tion). Application of early intervention services
lectual disability of unknown origin is 3%–9% to high-risk infants who are also at socioeco-
(De Souza, Halliday, Chan, Bower, & Morris, nomic risk has resulted in improved cognitive
2009; Van Naarden Braun, Autry, & Boyle, outcomes (see Chapter 30).
2005). Recurrence risk for intellectual disability The specific origins of mild intellectual
of known origin, however, varies according to disability are identifiable in less than half of
the cause. A family whose child has intellectual affected individuals (Moeschler, Shevell, &
disability following neonatal meningitis does the Committee on Genetics, 2006). The most
not have a significantly increased risk of hav- common biological causes are certain genetic/
ing future affected children, whereas a woman chromosomal syndromes—for example, velo-
who has had one child with a fetal alcohol spec- cardiofacial syndrome (VCFS), Klinefelter
trum disorders has a 30%–50% risk of having syndrome, fetal deprivation (e.g., IUGR),
other affected children if she continues to abuse perinatal complications (e.g., encephalopathy,
alcohol during pregnancy. The risk of recurrent infection), and intrauterine exposure to drugs of
Down syndrome ranges from less than 1% for abuse, especially alcohol (Kodituwakku, 2009).
trisomy 21 to more than 10% for a balanced Although definite genetic causes are less com-
translocation (see Chapter 1; De Souza et al., mon (5% versus 47% in severe intellectual dis-
2009). If the cause of intellectual disability is ability), familial clustering of mild intellectual
a Mendelian disorder (see Chapter 1), such as disability is common (Heikura et al., 2005).
neurofibromatosis (an autosomal dominant In children with severe intellectual dis-
trait), Hurler syndrome (an autosomal recessive ability, a biological origin can be identified in
trait), or fragile X syndrome (an X-linked trait), about three quarters of cases. The most com-
the recurrence risk ranges from 0%–50%, mon identifiable causes are Down syndrome,
depending on the inheritance pattern of the fragile X syndrome, and fetal alcohol spectrum
specific disorder. disorders, which together account for almost
one third of all currently detectable cases of
Etiology severe intellectual disability (Kodituwakku,
The epidemiology of intellectual disability sug- 2009; Moser, 1995).
gests that there are two overlapping populations: One way of dividing the biological origins
Mild intellectual disability is more likely to be of intellectual disability is by their timing in the
associated with racial, social, and familial factors developmental sequence; in general, the earlier
(Heikura et al., 2005; Leonard & Wen, 2002; the problem, the more severe its consequences.
Noble, Tottenham, & Casey, 2005), whereas This is consistent with finding a prenatal cause
severe intellectual disability is more typically in about three quarters of individuals with an
linked to a biological/genetic origin (Ropers, identifiable cause of severe intellectual dis-
2008; Strømme & Hagberg, 2000; Yeargin-All- ability (Acosta, Gallo, & Batshaw, 2002; Grop-
sopp, Murphy, Cordero, Decouflé, & Hollowell, man & Batshaw, 2010; Squier & Jansen, 2010;
1997). There is often, however, an interaction Weindling, 2010). Chromosomal disorders
between nature and nurture. Postnatal environ- (e.g., Down syndrome, Prader-Willi syndrome,
mental influences mediate biological processes 22q11 syndrome), certain single gene defects
through mechanisms that may be indirect (e.g., (e.g., Rubinstein-Taybi syndrome, Hurler syn-
epigenetics; see Chapter 1) and not fully under- drome), and abnormalities of brain develop-
stood at present. In addition, postnatal environment (e.g., holoprosencephaly) that affect early
mental factors may affect the expression of the embryogenesis are the most common and severe
examples of biologic origin. Together, these Table 17.3. Percentage of children with Intel-
groups of genetically based causes of severe lectual Disability (ID) who have associated chronic
health conditions
intellectual disability account for more than
two thirds of identifiable causes and encom- Epilepsy 22.0
pass more than 500 disorders (see http://www. Cerebral palsy 19.8
ncbi.nlm.nih.gov/omim for more informa- Hearing problems 4.5
tion). Insults occurring in the first and second
trimesters as a result of substance abuse (e.g., Vision problems 2.2–26.8
fetal alcohol spectrum disorders), infections Down syndrome 11.0
(e.g., cytomegalovirus), and other pregnancy Fragile X 1.9
problems (e.g., IUGR) occur in 10% of cases.
Autistic disorder 10.1
Fetal deprivation in the third trimester due to
placental damage, preeclampsia, or hemorrhage PDD 7.1
(see Chapter 2) and problems in the perinatal ADHD/hyperkinetic disorder 9.5
period (see Chapter 6) now account for less Conduct disorder 5.1
than 10% of identifiable causes of severe intel-
lectual disability. Five percent are the result of Oppositional defiant disorder 12.4
postnatal brain damage, most commonly men- Anxiety disorder 17.1
ingitis/encephalitis and traumatic brain injury Source: Osesburg, Dijkstra, Groothoff, Reijneveld, and
(see Chapter 26). Jansen (2011).
Key: PDD, Pervasive developmental disorder; ADHD,
attention-deficit/hyperactivity disorder
An intellectual disability is often accompanied disorders; Table 17.3). Communication deficits
by other impairments called comorbid condi- (speech-language impairments), beyond those
tions. Although a mild intellectual disability is related to the cognitive impairment, also are
frequently an isolated disorder, it may be paired frequent. Approximately 20% of children with
with motor or communication impairments that severe intellectual disability have cerebral palsy,
affect the child’s developmental outcome. The which may also be associated with feeding prob-
prevalence of these associated impairments cor- lems and failure to thrive. Seizure disorders also
relates with the severity of the disability (Allen, occur in about 20% of children with intellectual
2008; Cooper & van der Speck, 2009; Fletcher, disability. Finally, psychological and behavior
Loschen, Stavrakaki, & First, 2007; Jansen, disorders occur in up to half of children with
Krol, Groothoff, & Post, 2004; Kerr, Turky, & intellectual disability (Cooper & van der Speck,
Huber, 2009; Oliver & Richards, 2010). These 2009). In considering intervention strategies,
comorbid conditions include cerebral palsy, identifying these comorbid conditions and
seizure disorders, communication disorders, working toward their treatment is essential in
sensory impairments (hearing and/or visual order to obtain an optimal outcome.
deficits), and psychological/behavioral disor- Associated impairments may make it dif-
ders (e.g., mood disorders, autism spectrum ficult to distinguish intellectual disability from
disorders, attention-deficit/hyperactivity disor- other developmental disabilities. Certain dis-
der [ADHD], self-injury, aggression, conduct tinguishing features, however, usually exist
Table 17.4. Developmental delays in various developmental disabilities during preschool years
Developmental area
Problem solving
Disorder Motor Language (nonverbal reasoning) Social-adaptive
Intellectual disability Variable 2 2 2
Autism spectrum
N/A 3 Variable 3
disorder
Cerebral palsy 3 Variable Variable 2
Language disorder/
N/A 2 N/A Variable
deafness
Blindness 1 N/A Variable 1
Key: 3, severe impairment; 2, moderate impairment; 1, mild impairment; N/A, not affected.
(Table 17.4). In isolated intellectual disability, that can be evaluated by chromosomal micro-
language and nonverbal reasoning skills are sig- array analysis. Here abnormalities have been
nificantly delayed, whereas gross motor skills found in 15%–20% of samples from individu-
tend to be less affected. Conversely, in cerebral als with intellectual disability who were tested
palsy, motor impairments are more prominent (Miller et al., 2010). In addition, MRI scans
than cognitive impairments. In communication have been found to document a significant
disorders, expressive and/or receptive language number of subtle markers of cerebral malfor-
skills are more delayed than nonverbal reason- mations in about 10% of children with intel-
ing skills. In autism spectrum disorders, social lectual disability (Barkovich & Raybaud, 2004).
skills impairments and atypical behaviors are How intensively one should investigate the
superimposed on cognitive (especially com- cause of a child’s intellectual disability is based
munication) impairments. In some instances, on a number of factors. First, what is the degree
repeated assessments may be necessary to deter- of intellectual disability? One is less likely to
mine the primary developmental disability. find a biological cause in a child with mild intel-
lectual disability than in a child with a severe
disability. Second, is there a specific diagnostic
Medical Diagnostic Testing path to follow? If there is a medical history, a
No single method exists for detecting all causes family history, or physical findings pointing to
of intellectual disability (American Academy of a specific cause, a diagnosis is more likely to
Pediatrics et al., 2006; Moeschler et al., 2006; be made. Conversely, in the absence of these
see Chapter 15). As a result, diagnostic testing indicators, it is difficult to choose specific tests
should be based on the medical history and a to perform. Third, are the parents planning
physical examination. For example, a child with to have additional children? If so, clinicians
an unusual facial appearance, a history of other are more likely to intensively seek disorders
affected family members, or multiple congeni- for which prenatal diagnosis or a specific early
tal anomalies should be referred to a geneticist. treatment option is available (e.g., for many
With the increased ability to identify genetic inborn errors of metabolism). Finally, and most
disorders, even minor anomalies may be worth important, what are the parents’ wishes? Differ-
pursuing with chromosomal microarray analysis ent parents have different levels of investment
(Miller et al., 2010; Qiao et al., 2010; see Chap- in searching for the cause of the intellectual
ter 1). A male with unusual physical features disability. Some focus exclusively on treat-
and/or a family history of intellectual disability ment while others are so directed on obtaining
and/or autism spectrum disorder should prob- a diagnosis that they have difficulty accepting
ably have molecular studies for fragile X syn- intervention until a specific cause has been
drome. A child with a progressive neurological determined. Both extremes and every perspec-
disorder will need extensive metabolic inves- tive in between must be respected, and support-
tigation, and a child with seizurelike episodes ive anticipatory guidance should be provided in
should have an electroencephalogram. Finally, the context of parent education for the “here
children with abnormal head growth or asym- and now” as well as for the future.
metrical neurological findings may warrant an
MRI scan. These tests, however, should not be
Psychological Testing
seen as screening tools to be used in all children
with intellectual disability because their yield The routine evaluation for intellectual disabil-
of useful results is low unless there is a specific ity should include an individual intelligence
reason for performing the study. Table 17.5 lists test (see Chapter 16). The most commonly
tests that may be used to investigate intellectual used test in children are the Bayley Scales of
disability and how commonly they are likely to Infant Development—Third Edition (BSID-III;
reveal a cause. Bayley, 2006), the Stanford Binet Intelligence
Although these are the most common rea- Scales—Fifth Edition (Roid, 2003) and the
sons for performing diagnostic tests, it now Wechsler scales: the Wechsler Preschool and
seems clear that some children with subtle Primary Scale of Intelligence—Third Edition
physical or neurological findings also may have (WPPSI-III; Wechsler, 2002) and the Wechsler
determinable biological origins of their intel- Intelligence Scale for Children—Fourth Edi-
lectual disability. It has been shown that a sig- tion (WISC-IV; Wechsler, 2003).
nificant percentage of unexplained intellectual As noted in the APA definition of intellec-
disability can be accounted for by microdele- tual disability, in addition to testing intelligence,
tions (very minute chromosomal abnormalities) adaptive skills (including social functioning)
Table 17.5. Suggested evaluation of the child with intellectual disability

Test Yield Comment
In-depth history Prenatal, perinatal, and postnatal events (including seizures)
Developmental attainments
Three-generation pedigree in family history
Physical examination Particular attention to minor/subtle abnormalites
Neurological examination for focality and skull abnormalities
Behavioral phenotype
Vision/hearing evaluation Physiologic measures may be required if behavioral responses
cannot be reliably assessed.
Chromosomal microarray 15%–20% May not detect some balanced rearrangements or low-level
analysis mosaicism
Technology and interpretation of results is evolving
Karyotype 3.7% Now replaced in most cases by microarray analysis, which has
a higher yield
Fragile X screen 2.6% Preselection on clinical grounds may increase yield to 7.6%
Neuroimaging (magnetic 40%–55% Positives increased by abnormalities of skull contour or size, or
resonance imaging focal neurological examination
preferred) Identification of specific etiologies is rare
Most conditions that are found do not alter treatment plan
Need to weigh risk of sedation against possible yield
Thyroid/thyroid stimulating ~4% Near 0% in settings with universal newborn screening program
hormone
Serum lead ? Performed in the presence of identifiable risk factors for exces-
sive environmental lead exposure
Metabolic testing ~1% Urine organic acids
Plasma
Amino acids
Ammonia
Lactate
Capillary blood gas
Focused testing based on clinical findings warranted
MECP2 for Rett syndrome ? Females with severe ID
Electroencephalogram ~1% May be deferred in absence of history of seizures
Sources: Curry et al. (1997); Miller et al. (2010); Shevell et al. (2003).
also should be measured. The most commonly language skills remain the best predictors of
used test of adaptive behavior is the Vineland- future IQ scores. These tests do permit the
II (Sparrow et al., 2005). Other tests of adap- differentiation of infants with severe intellec-
tive behavior that are used commonly include tual disability from typically developing infants
the Scales of Independent Behavior—Revised but are less helpful in distinguishing between a
(Bruininks, Woodcock, Weatherman, & Hill, typically developing child and one with a mild
1996) and the Adaptive Behavior Assessment intellectual disability. In general, however, there
System—Second Edition (ABAS-II; Harrison is less variability seen with cognitive growth in
& Oakland, 2003). children with intellectual disability, so predic-
tive validity is enhanced compared with chil-
Interpretation of Test Results dren with typical development.
In infants and young children with typical devel- Although children with intellectual disabil-
opment, there is substantial variability in IQ ity usually score below average on all subscale
scores on repeated cognitive testing and conse- scores, they may score in the typical range in
quently poor predictive validity until around 10 one or more performance areas in the Wechsler
years of age. Accuracy is enhanced if repeated Scales (Wechsler, 2002, 2003). Overall, these
testing confirms a stable rate of cognitive devel- scales are quite accurate in predicting adult IQ
opment. The predictive value of infant tests is scores when administered to school-age chil-
further limited because such tests are primar- dren. The evaluator, however, must ensure that
ily dependent on nonlanguage items, whereas situations that may lead to falsely low IQ scores
do not confound the test performance. Condi- educational setting for 3–4 year olds, some of
tions such as motor impairments, communica- these children attend out-of-home center-based
tion disorders, sensory impairments, speaking or preschool environments. At age 5, most chil-
a language other than English, extremely low dren enter kindergarten for half- or full-day
birth weight, or insufficient schooling may sessions and are introduced to a more formal
invalidate certain intelligence tests and require learning environment. Formal special educa-
modification of others, and the presence of such tion services are provided in the school setting
conditions always requires caution with regard thereafter.
to interpretation.
There is usually, but not always, a good Leisure and Recreational Needs
correlation between scores on the intelligence In addition to education, the child’s physi-
and adaptive scales (Bloom & Zelko, 1994). cal, social, and recreational needs should be
Adaptive abilities, however, are more respon- addressed (Patel & Greydanus, 2010; van
sive to intervention efforts than is the IQ score. Naarden Braun, Yeargin-Allsopp, & Lol-
They are also more variable, which may relate lar, 2009; Verdonschot, de Witte, Reich-
to the underlying condition and to environ- rath, Buntinx & Curfs, 2009). Children’s peer
mental expectations. For example, although socialization in play and recreational activities
individuals with Prader-Willi syndrome have constitutes an important part of their social-
stability of adaptive skills through adulthood, emotional development and builds resilience.
individuals with fragile X syndrome may have As such, children’s socialization competencies
increasing impairments over time (Jacquemont and experiences (e.g., dealing with social con-
et al., 2004). flict, managing anger, making needs known,
expressing affection or unhappiness) can exert a
TREATMENT APPROACHES significant influence upon their developmental
outcomes and school readiness and participa-
The most useful treatment approach for chil- tion, and it eventually also can influence chil-
dren with intellectual disability consists of mul- dren’s future success in adult life. In the ideal
timodal efforts directed at many aspects of the world, children with intellectual disability would
child’s life—education, social, and recreational participate as equals in all recreation and leisure
activities; behavior problems; and associated activities. Although young children with intel-
impairments (Harris, 2010; Shapiro & Batshaw, lectual disability are not usually excluded from
2011). Support for parents, siblings, and other play activities, parents still may have a difficult
caregivers (both family members and unrelated time finding age- and skill-appropriate adaptive
caregivers) is also important (see Chapter 37). play equipment (cost can be a significant factor)
or socially oriented play groups (transporta-
Educational Services tion costs and availability of inclusive programs
Education is the single most important disci- are additional compromising factors). Fur-
pline involved in intervention for children with thermore, adolescents with an intellectual dis-
intellectual disability and their families (see ability are often not included by their typically
Chapters 30 and 31). The achievement of good developing peers in extracurricular sports and
outcomes in an educational program is depen- social activities (Patel & Greydanus, 2010). Yet,
dent on the interaction between the student participation in sports or related exercise regi-
and teacher. Educational programs must be rel- mens should be encouraged with all children (as
evant to the child’s needs and address the child’s functionally appropriate) because it offers many
individual strengths and challenges. The child’s immediate and long-term benefits, including
developmental level and his or her requirements weight management, development of physical
for support and goals for independence provide coordination, maintenance of cardiovascular
a basis for establishing an individualized family fitness, and improvement of self-image (see
service plan (IFSP) or an individualized educa- Chapter 34). For some individuals, these needs
tion program (IEP). can be met through the Special Olympics.
It also needs to be remembered that chil- Social activities are equally important
dren’s learning begins in a family context that to the social and emotional development of
later is shared with the educational system. youth with intellectual disabilities. Such activi-
Education for infants and toddlers (early inter- ties should include those with adolescents of
vention, birth to 3 years) usually takes place in the opposite gender and with typically devel-
the home. Although home is also the primary oping youth. These activities, however, need
to be based on the youth’s functionally adap- these individuals. Medication may be helpful,
tive age-appropriate behaviors. Examples of however, in treating comorbid behavioral and
normalizing activities include participation in emotional disorders (Risen, Accardo, & Shap-
summer camps; school dances; school or fam- iro, 2010). These drugs are generally directed
ily trips; dating or socialization in youth groups at specific symptom complexes, including
or school clubs; visits to movies, restaurants, ADHD (e.g., stimulants, alpha-2-adrenergic
and other socializing establishments; and other agonists), self-injurious behavior or aggres-
typical recreational events. These activities sion (e.g., mood stabilizers, neuroleptics), and
should also include opportunities for increas- mood and/or obsessive-compulsive disorders
ing social-emotional independence away from (e.g., selective serotonin reuptake inhibitors).
direct parental oversight. They should also The properties of these psychopharmaceutical
involve exposure to novel experiences in which drugs are outlined in Appendix C. Before long-
the individual has the opportunity to test, grap- term therapy with any drug is initiated, a short
ple with, and practice his or her overall adaptive trial should be conducted. Even if a medication
competencies (see Chapter 40). While parental proves successful, its use should be reevaluated
oversight may diminish during this period, suf- at least yearly to assess the need for continued
ficient supports are needed to ensure that the treatment.
adolescent with intellectual disability is not tar-
geted or bullied in these settings. Treating Comorbid Conditions
Comorbid conditions—for example, cerebral
Behavior Therapy palsy; sensory impairments; seizure disorders;
Although most children with intellectual dis- speech disorders; ADHD; autism spectrum dis-
ability do not have behavior disorders, these orders; and other disorders of language, behav-
problems do occur with a greater frequency ior, or perception—must be treated to achieve
in this population than among children with an optimal outcome for the child with intel-
typical development (Allen, 2008). To facilitate lectual disability. This may require ongoing
the child’s socialization and not limit academic physical therapy, occupational therapy, speech-
opportunities, significant behavior problems language therapy, behavioral therapy, adaptive
must be addressed (Chapter 32). Behavior equipment, eyeglasses, hearing aids, medica-
problems may result from organic problems tion, and so forth. Failure to adequately iden-
(e.g., ADHD), primary or associated second- tify and treat these problems may negatively
ary psychiatric disorders (e.g., mood disorders), influence functional outcomes and result in dif-
unrealistic parental expectations, and/or other ficulties in the home, school, or neighborhood
family difficulties and school-related adjustment environment.
difficulties (Deutsch, Dube, & McIlvane, 2008).
Often, behavior problems represent attempts Family Counseling
by the child to communicate, gain attention, or All families benefit from anticipatory guidance
avoid frustration. In assessing the problematic regarding their child’s health and development,
behavior, one must first consider whether the but this is especially true for those families
behavior is appropriate for the child’s “cogni- who have children with intellectual disabil-
tive” age rather than for his or her chronologi- ity (Coren, Hutchfield, Tomae, & Gustafsson,
cal age. The child’s chronological age, however, 2010). Many families adapt well to having a
needs to be considered in order to address the child with intellectual disability, but some have
manifested behavior in the environmental con- significant problems. Among the factors that
text of the child’s functioning. When interven- have been associated with family coping skills
tion is needed, an environmental change, such are the severity of the child’s disability, number
as a more appropriate classroom environment, of siblings, stability of the parents’ relationship,
may improve behavior problems for some chil- parental age, mental and physical health of
dren. For other children, behavior management the family, financial stability, expectations and
techniques (see Chapter 32) and/or the use of acceptance of the child’s diagnosis, supportive-
psychotropic medication may be appropriate. ness of the extended family, and availability of
community resources and respite care services.
Use of Medication In families in which the emotional demands of
Medication is not useful in treating the core having a child with intellectual disability are
symptoms of intellectual disability; no drug has great, family counseling should be an integral
been found to improve cognitive function in part of the treatment plan (see Chapter 37).
Periodic Reevaluation the most. Supported employment challenges

The needs of children and their families change the view that prerequisite skills must be taught
over time. As a result, children’s health, learn- before there can be successful vocational adap-
ing, adaptive, and behavioral goals must be tation. Instead, individuals are trained by a
reassessed and developmentally based; further- coach to do a specific job in the setting in which
more, school-related programming needs to the person is to work. This approach bypasses
be adjusted. A periodic review should include the need for extended time mastering “prereq-
information about the child’s health status as uisite skills” and has resulted in successful work
well as his or her functioning at home, at school, adaptation in the community for many people
and in other social contexts. Other information, with intellectual disability. Outcome studies
such as formal psychoeducational testing, may have documented the benefits and effectiveness
be needed. Reevaluation should be undertaken of this approach (Stephens, Collins, & Dod-
at routine intervals, at any time the child is der, 2005). People with intellectual disability
not meeting expectations, and when he or she requiring limited support (e.g., individuals with
is moving from one service provision system Down syndrome) generally live at home or in a
to another. Reevaluations are needed during supervised setting in the community.
early childhood and preschool years to ensure As adults, people with intellectual dis-
that the program remains appropriate as the ability requiring extensive to pervasive sup-
child matures. Transition programs are espe- port (severe–profound intellectual disability)
cially necessary during adolescence to prepare may perform simple tasks in supervised set-
for the move to adulthood (Neece, Kraemer, & tings. These individuals, however, may have
Blacher, 2009; see Chapter 40). comorbid conditions such as cerebral palsy and
sensory impairments that further limit their
adaptive functioning. Yet most people with this
Outcome level of intellectual disability are able to live in
Save in individuals with severe–profound intel- the community with supportive adaptations in
lectual disability, IQ scores alone are not good their environment and with supervisory over-
predictors of outcome. Outcome for an indi- sight (see Chapter 40). Family-based, commu-
vidual with intellectual disability depends on nity-supported care is preferable to institutional
the interplay of many factors including the care for these individuals, but it is often difficult
underlying cause; the degree of functional dis- to achieve for a variety of reasons (e.g., par-
ability; the presence of comorbid conditions ents’ advanced ages, lack of financial support,
and behavior problems; the capabilities of the familial or community resistance, comorbid
family; and the supports, community services, conditions). As a result, some of these individu-
and training provided to the child and family als with severe medical problems, behavioral
(Patel, Greydanus, Calles, & Pratt, 2010; Turn- disturbances, or disrupted families require out-
bull, Summers, Lee, & Kyzar, 2007). As adults, of-home living in such settings as foster homes,
many people with mild intellectual disability alternative living units, group homes, nurs-
are able to gain functional literacy and some ing homes, or residential schools. People who
economic and social independence and only require extensive or pervasive supports have
require intermittent supports (Seltzer et al., increased utilization of medical and behavioral
2009). Such adults may, however, need periodic health care and often have a shortened life span
assistance, especially when under social or eco- (Katz, 2003; Kilgour, Starr, & Whalley, 2010).
nomic stress. Some marry and live successfully
in the community, either independently or in SUMMARY
supervised settings (Aylward, 2002; Felce et al.,
2008). Life expectancy usually is not adversely Development is an ordered process that is linked
affected. to the maturation of the central nervous sys-
For individuals with moderate intellectual tem. With intellectual disability, development is
disability, the goals of education are to enhance altered so that intellectual and adaptive skills are
adaptive abilities, functional academics, and impaired. In most cases of mild intellectual dis-
vocational skills so that these individuals are ability, the underlying cause is unclear and may
better able to live in the adult world (Cummins, be tied to environmental effects. In three quar-
2001; Totsika, Felce, Kerr, & Hastings, 2010). ters of individuals with severe intellectual disabil-
Contemporary gains including supported ity, however, there is a definable biologic cause.
employment have benefited these individuals Most people with intellectual disability have a
mild degree, require only intermittent support, Bear, L.M. (2004). Early identification of infants at
and are often able to achieve some economic and risk for developmental disabilities. Pediatric Clinics of
North America, 51(3), 685–701.
social independence. The early identification Beirne-Smith, M., Patton, J.M., & Kim, S.H. (2005).
of a global developmental delay is important to Mental retardation: An introduction to intellectual dis-
ensure appropriate treatment and to enable the ability (7th ed). Upper Saddle River, NJ: Prentice Hall.
child to develop and use all of his or her capabili- Bloom, A.S., & Zelko, F.A. (1994). Variability in adap-
tive behavior in children with developmental delay.
ties. Treatment should be multi-modal, support-
Journal of Clinical Psychology, 50, 261–265.
ing the education, mental and physical health, Boyle, C.A., Boulet, S., Schieve, L.A., Cohen, R.A.,
adaptive behavior, and communication skills of Blumberg, S.J., Yeargin-Allsopp, M., … Kogan,
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mental disabilities in US children, 1997–2008. Pedi-
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opment of the human cerebral cortex. Journal of
308 Roizen
2009). Increasing maternal age has been consis- complete genomic sequence of HSA21q was
tently linked to an increased chance of having a completed in 2000 (Hattori et al., 2000) and a
child with Down syndrome. At 20 years of age, recent review identified more than 500 genes on
women have about a 1 in 1,600 chance of having HSA21q which belong to a wide variety of func-
a child with trisomy 21; at 45 years of age, the tional classes (Gardiner, 2009). Magnetic reso-
likelihood increases to 1 in 50 (Wald & Leck, nance imaging (MRI) studies of individuals with
2000). There is no increased risk of transloca- an extra copy of HSA21q reveal reduced overall
tion Down syndrome (defined in the following brain volume with smaller frontal and temporal
section) with increased maternal age. How- areas, cerebellum, and notably the hippocam-
ever, one third of individuals with transloca- pus, which is critical for long-term storage of
tion Down syndrome inherit the translocation memory. Alterations of these different regions
from a typically unaffected parent who is a car- of the brain likely have a convergent impact on
rier but has only one copy of the genetic mate- learning (Lott & Dierssen, 2010). On the cellu-
rial of chromosome 21 (Bull & the American lar level, neuropathologic abnormalities include
Academy of Pediatrics Committee on Genetics, fewer neurons, decreased neuronal density, and
2011; Jones, 2006). Chromosome analysis can abnormal neuronal distribution. After 6 months
identify parents who are at risk of having chil- of age, dendritic branching decreases steadily,
dren with translocation Down syndrome. becoming significantly subnormal after 2 years
of age. This may result in a reduced connected
neuronal network that limits information pro-
Chromosomal Findings cessing and decreases synaptic plasticity (Lott
Three types of chromosomal abnormalities & Dierssen, 2010). The impairment of connec-
result in extra copies of the Down syndrome tivity of the fronto-cerebellar structures, which
area of chromosome 21 and can lead to Down are involved in articulation and verbal work-
syndrome: trisomy 21 (which accounts for ing memory, may be related to the lower per-
about 95% of individuals with the disorder), formance of individuals with Down syndrome
translocation (4%–5%), and mosaicism (1%– in both linguistic and visual-spatial tasks. The
2%; Bull & the American Academy of Pedi- hippocampal dysfunction may be a cause of
atrics Committee on Genetics, 2011; Jones, reduced long-term memory skills (Lott &Dier-
2006). Trisomy 21 results from nondisjunc- ssen, 2010).
tion, most commonly during meiosis I of the
egg (see Chapter 1, Figure 1.3). Translocation
Early Identification
Down syndrome involves the attachment of the
long arm of an extra chromosome 21 to chro- The American College of Obstetricians and
mosome 14, 21, or 22 (see Chapter 1, Figure Gynecologists recommend that, regardless
1.5). Mosaic trisomy implies that some, but not of age, all pregnant women should be offered
all cells, have the defect. This results from non- screening and diagnostic testing for Down syn-
disjunction during mitosis of the fertilized egg. drome. First trimester screening incorporates
Studies indicate that children with trans- maternal age, nuchal (neck) translucency, ultra-
location Down syndrome do not differ cogni- sonography, and maternal blood tests and has
tively or medically from those with trisomy 21. a detection rate of 82%–87%. Second trimes-
Children with mosaic Down syndrome, perhaps ter screening, which is often called the “quad
because their trisomic cells are interspersed screen” and includes measurement of four ele-
with normal cells, typically score higher on IQ ments in the maternal serum, has a detection
tests than those with trisomy 21 or transloca- rate of 80%. Integrated screening that includes
tion Down syndrome (Fishler & Koch, 1991; a combination of first and second trimester
see Chapter 1). Medical complications tend to screening has a detection rate of 95% (Bull &
be similar among the three groups (McClain et the American Academy of Pediatrics Commit-
al., 1996). tee on Genetics, 2011; see Chapter 5). If Down
syndrome is identified and the pregnancy is
continued, the parents can be provided with
EFFECTS OF TRISOMY 21
counseling regarding the disorder and planning
Down syndrome results from an extra copy for appropriate medical evaluation of the new-
of the long arm of human chromosome 21 born infant.
(HSA21q), which results in increased expres- Because of the distinctive pattern of physi-
sion of the genes on HSA21q, due to having 3 cal features, infants with Down syndrome can be
copies of those genes instead of 2 copies. The identified fairly easily. Common characteristics
Down Syndrome (Trisomy 21) 309
at birth include the distinctive facial appear- eyes; 10%–20%), as well as blepharitis (inflam-
ance, Brushfield spots (colored speckles in the mation of the eyelids), tear duct obstruction,
iris of the eye), short ear length, increased neck cataracts, and ptosis (droopy eyelids) are also
skinfold, congenital heart disease, and widely found more commonly among people with
spaced first toes (Rex & Preus, 1982). Individu- Down syndrome than in the general popula-
als with other syndromes, however, may bear a tion (Creavin & Brown, 2009). In children with
physical resemblance to individuals with Down no ophthalmic abnormalities observed dur-
syndrome in the newborn period (Jones, 2006). ing pediatric checkups, 35% are subsequently
Therefore, all children suspected of having found to have an identifiable disorder when
Down syndrome should have a chromosomal examined by an ophthalmologist (Roizen, Mets,
analysis performed to ensure correct diagno- & Blondis, 1994; see Chapter 11).
sis and to allow for the provision of accurate Hearing loss occurs in as many as two
genetic counseling about future pregnancies. thirds of children with Down syndrome. It
can be conductive (middle ear conduction of
sound), sensorineural (involving the cochlea
Medical Complications
or auditory nerve), or combined; in addition,
in Down Syndrome it can be unilateral or bilateral (see Chap-
Children with Down syndrome have an ter 10). Conductive hearing problems develop
increased risk of abnormalities in almost every as a result of recurrent otitis media (middle ear
organ system (Roizen & Patterson, 2003; van infections) related to narrowed ear and throat
Trotsenburg, Heyman, Tijssen, de Vijlder, & passages and immune variation (Shott, 2006).
Vulsma, 2006). Knowledge of these possible Chapman, Seung, Schwartz, and Bird (1998)
medical complications enables the health care estimated that 10% of the language impairment
provider to evaluate the child for the more in children with Down syndrome is attributable
common conditions and to monitor, prevent, to hearing losses.
and be vigilant for other medical problems.
Endocrine Abnormalities
Congenital Heart Defects Congenital hypothyroidism resulting from
In a population-based study of infants with impaired development of the thyroid gland is
Down syndrome, 44% had congenital heart found in 0.8%–1.8% of newborns with Down
defects, the most common being ventricular syndrome, a rate 28–54 times that seen in the
septal defect (a connection between the two general population (Fort et al., 1984; Tuysuz &
lower chambers; 43%), followed by atrial sep- Beker, 2001). In addition, beyond the neonatal
tal defect (a connection between the two upper period, 25%–40% of children with Down syn-
chambers; 42%), and endocardial cushion drome manifest compensated hypothyroidism,
defect (resulting in connection between the in which there is an elevated level of thyroid
atria and ventricles; 39%; Freeman et al., 2008). stimulating hormone (TSH) but normal thy-
A major complication of congenital heart dis- roid hormone levels (Rubello et al., 1995). In
ease is pulmonary vascular obstructive dis- one study of 1257 children on Medicaid with
ease. This leads to increased back pressure in Down syndrome, 11% of children between 1
the arteries that connect the heart to the lungs and 18 years of age were treated with thyroid
and results in congestive heart failure. Progres- hormone replacement (thryoxine), most com-
sion of this potentially fatal complication is monly before 3 years of age and between 12 and
more rapid in children with Down syndrome 18 years of age (Carroll et al., 2008). In addi-
than in children with the same heart defects and tion, type 1 (juvenile) diabetes occurs at a rate
normal chromosomes (Suzuki et al., 2000). that is 4.2 times that found in the general popu-
lation of children (Bergholdt, Eising, Nerup, &
Sensory Impairments Pociot, 2006).
Vision and hearing problems occur with an
increased frequency in children with Down Growth and Obesity Problems
syndrome. Deficits in visual acuity occur in Children with Down syndrome are at great
30%–62% of Down syndrome cases, with risk for becoming overweight. A major factor
amblyopia (“lazy eye”) occurring in 3%–20% in the development of obesity among children
of Down syndrome cases. Disorders of eye with Down syndrome is the presence of a lower
movement such as strabismus (crossed eyes; resting metabolic rate, which results in requir-
20%–60%) and nystagmus (jiggling of the ing fewer calories to gain weight (Bauer et al.,
310 Roizen
2003). In general, newborns with Down syn- Atlantoaxial subluxation is the most con-
drome have proportional weight for height; in troversial and perplexing of these problems,
the first year of life, they tend to become light occurring in approximately 15% of children
for their height. During the next few years, with Down syndrome (Cohen, 2006). This
however, the children gain relatively more condition involves the partial displacement of
weight than height, and by early childhood, the upper vertebra as measured by x ray, and
half are overweight. In addition to being over- potentially can lead to spinal nerve entrapment.
weight, individuals with Down syndrome have An easy, accurate, and cost-effective way to
short stature. The average adult height is 5 feet screen for subluxation has not been identified.
in males and 4½ feet in females with the syn- Fortunately, only 2% of children with atlanto-
drome (Toledo et al., 1999). axial subluxation develop symptoms of spinal
cord compression, and it rarely leads to paraly-
Orthopedic Problems sis (Cohen, 2006). Symptoms of subluxation
Children with Down syndrome have an can include the following: easy fatigability, dif-
increased prevalence of orthopedic problems ficulties in walking, abnormal gait, neck pain,
that are probably related to abnormally loose limited neck mobility, torticollis (painful head
ligaments. These problems include atlantoax- tilt), a change in hand function, the new onset
ial subluxation (partial dislocation of the upper of urinary retention or incontinence, incoor-
spine; Figure 18.1); patellar (knee cap) insta- dination and clumsiness, sensory impairments,
bility; and pes planus (flat feet). These children and spasticity (Cohen, 2006).
also can develop juvenile idiopathic arthritis,
which is associated with joint subluxation in Dental Problems
half of the cases and is usually diagnosed about The most serious dental problem common
2 years after symptoms develop (Juj & Emery, among children with Down syndrome is early-
2009). onset periodontal disease (disease of tissue
Normal
Instability with
movement of
dens posterially
Figure 18.1. Children with Down syndrome are at risk of developing subluxation (partial dislocation)
of the atlantoaxial or atlanto-occipital joint, as shown in this illustration (right side). A typical neck region
is shown for comparison (left side). This subluxation predisposes these children to spinal injury with
trauma. This abnormality can be detected by x ray or magnetic resonance imaging scan of the neck.
surrounding the teeth) that can rapidly prog- disability. Seizure types include generalized
ress (Hennequin, Faulks, Veyrune, & Bour- tonic-clonic (55% of all seizures in children
diol, 1999). This involves both gingivitis (gum with Down syndrome), infantile spasms (13%),
inflammation) and regression of the bone that myoclonic (6%), atonic plus tonic-clonic (6%),
anchors the teeth (see Chapter 35). Periodontal and simple partial (6%; see Chapter 27). Sei-
disease is common, probably as part of a mani- zures are diagnosed most commonly in indi-
festation of the immune variations in children viduals younger than 3 years and older than 13
with Down syndrome. In addition to having years of age. 62% of the seizures have an identi-
periodontal disease, almost all children with fiable cause, the most common being infections
Down syndrome have malocclusions (abnor- and hypoxia (resulting from congenital heart
mal contact of opposing teeth), and many have disease). Children with Down syndrome who
dental anomalies (e.g., fused teeth, microdon- have infantile spasms have a better outcome
tia [small teeth], missing teeth). In addition, than children with infantile spasms who do not
primary and permanent teeth erupt later than have Down syndrome (Goldberg-Stern et al.,
usual. Interestingly, dental cavities occur less 2001; Stafstrom & Konkol, 1994).
often in children with Down syndrome than
in the general population; the reason for this is Hematologic Disorders
unclear but is probably related to differences in Leukemias are the most common malignancy in
immunity and tooth shape. individuals with Down syndrome and account
for 97% of the malignancies in children with
Gastrointestinal, Renal, and Urinary Down syndrome under 15 years of age. Indi-
Tract Anomalies and Problems viduals with Down syndrome have a 10- to
Gastrointestinal malformations are found in 20-fold higher relative risk than the general
approximately 6.7% of children with Down population, with a cumulative risk of 2% by 5
syndrome. Most of these abnormalities pres- years of age and 2.7% by 30 years of age (Rabin
ent with symptoms in the newborn period & Whitlock, 2009). Children with Down syn-
such as poor feeding, vomiting, or aspiration drome experience three types of leukemia,
pneumonia. The malformations include ste- and, as in the typically developing population
nosis (narrowing) or atresia (blockage) of the of children, the most common type is acute
duodenum (the first section of the small intes- lymphoblastic leukemia (ALL). Newborns with
tine; 3.9%), imperforate (closed) anus (1.0%), Down syndrome have a 3%–10% chance of
Hirschsprung disease (congenitally enlarged having elevated numbers of white blood cells
colon; 0.8%), tracheoesophageal fistula (an (transient myeloproliferative disease [TMD];
abnormal connection between the trachea and Pine et al., 2007; Rabin & Whitlock, 2009).
esophagus) or esophageal atresia (0.4%), and Of children with TMD, 10%–20% will subse-
pyloric stenosis (narrowing of the stomach out- quently develop acute megakaryocytic leukemia
let; 0.3%; Freeman et al., 2009). Gastroesoph- (AMKL; Ahmed et al., 2004). AMKL is associ-
ageal reflux disease (GERD; acid reflux) also ated with a mutation in the gene that encodes
is known to be common among children with for GATA-1, which is required for the devel-
Down syndrome. Celiac disease (sensitiv- opment of young platelets (Ahmed et al., 2004;
ity to wheat and other grains) has been found Malinge, Izraeli, & Crispino, 2009).
in 1%–7% of children with Down syndrome Children with Down syndrome have low
(Bull & the American Academy of Pediatrics dietary intake of iron (Luke, Sutton, Schoeller,
Committee on Genetics, 2011; Cohen, 2006). & Roizen, 1996), and iron deficiency or iron
Children with Down syndrome are also at an deficiency anemia are found in 10% of this
increased risk for renal and urinary tract anom- population (Dixon et al., 2010).
alies (3.2%) compared with the general popula-
tion (0.7%; Kupferman, Druschel, & Kupchik, Skin Conditions
2009). Several skin conditions, mostly of immune ori-
gin, are observed more frequently in individu-
Epilepsy als with Down syndrome than in the general
Epilepsy occurs in 6% of individuals with Down population. Some of these conditions notice-
syndrome (Johannsen, Christensen, Goldstein, ably affect the appearance and therefore the
Nielsen, & Mai, 1996). This is more common quality of life of children with Down syndrome,
than in the general population but about aver- therefore requiring treatment. By puberty, half
age for children with moderate intellectual or more of these individuals will experience
312 Roizen
eczema (atopic dermatitis), cheilitis (inflam- with Down syndrome are at increased risk
mation of the lips), ichthyosis (dry and scaly for experiencing behavioral, emotional, and
skin), onychomycosis (fungal infection of psychiatric problems (18%–23%) but com-
the nails), seborrheic dermatitis (dandruff), pared with other children with intellectual dis-
vitiligo (patches of depigmentation), and/or abilities, children with Down syndrome are at
xerosis (dryness of eyes; Ercis, Balci, & Atakan, decreased risk (30%–40%). Children and youth
1996). Less common skin diseases found among with Down syndrome have been found to have
children with Down syndrome are syringomas low levels of extreme aggression (e.g., 6%
(sweat gland cysts) and alopecia (hair loss). fighting) but high rates of provocative behav-
iors and low-level aggressive behaviors (e.g.,
73% disobedient, 65% argumentative, 50%
NEURODEVELOPMENT demanding attention). In addition, 6%–8% of
AND BEHAVIOR children with Down syndrome are diagnosed
Infants with Down syndrome typically have with ADHD, like Jason in our case study. About
central hypotonia (floppiness without weak- 10% of children with Down syndrome fall on
ness) and delayed, though typically sequenced, the autism spectrum (Dykens, 2007). About half
gross-motor development (Lott & Dierssen, of the children with Down syndrome who have
2010). Most children with Down syndrome do an autism spectrum disorder (ASD) experience
not sit up until 11 months of age or walk until a late regression, with loss of language around
19 months of age (Winders, 1997). Boys with 5 years of age (Castillo et al., 2008). Studies
Down syndrome generally reach developmen- have also reported a delay in the diagnosis of
tal milestones slightly later than girls with the ASDs among children who have Down syn-
syndrome. By school age, children with Down drome compared with the general population
syndrome learn to run, ride bicycles, and par- of children (Rasmussen, Borjesson, Wentz, &
ticipate in sports. Gillberg, 2001).
Children with Down syndrome often do Some individuals with Down syndrome
not speak their first word until 18 months of may experience a deterioration of cognitive
age. By 2 years of age, significant language or psychological functioning in adolescence,
delays have become evident (Kumin, 2001). often manifested as worsening of behavior or
Their receptive language is generally better academic performance. Many times, this dete-
than their expressive language. One frequently rioration can be attributed to unrecognized
used method of bridging the gap between recep- hypothyroidism or depression. If such diag-
tive and expressive language is to teach children noses are confirmed, medical and psychiatric
with Down syndrome sign language. Even treatment can reverse these problems. When
after children with Down syndrome learn to an etiology and related intervention are not
speak in sentences, problems with intelligibility found, this phenomenon is sometimes referred
interfere with effective communication; in fact, to as childhood disintegrative disorder (Prasher,
speech therapy that addresses the development 2002). It appears, however, that virtually all
of expressive speech and intelligibility is often individuals with Down syndrome have the char-
needed for many years (Chapman, Schwartz, & acteristic neuropathology of Alzheimer’s dis-
Kay-Raining Bird, 1991; Chapman et al., 1998; ease by 45 years of age. They have an increased
Kumin, 2001; Miller, Leddy, & Leavitt, 1999). concentration of brain amyloid, which is associ-
Intellectual testing reveals standard scores of 80 ated with neurofibrillary tangles. A number of
at 6 months of age; however this score steadily genes on chromosome 21 have been implicated
decreases and is 45 at 4 years of age (Carr, 1988). in Alzheimer’s disease. Despite the Alzheimer
These children generally have relative weakness neuropathology, clinical signs of dementia do
in expressive language, syntactics, and verbal not occur in all adults with Down syndrome.
working memory (Silverman, 2007). This cog- It should be noted, however, that 75% of indi-
nitive pattern is consistent with the macro and viduals with Down syndrome who live beyond
micro brain morphology described earlier. 65 years of age meet the criteria for dementia
Children with Down syndrome are stereo- (Lott &Dierssen, 2010).
typed as being amiable and happy. Tempera-
ment studies, however, have shown them to Evaluation And Treatment
have profiles comparable to typically developing
children (Chapman & Husketh, 2000). Com- Several of the medical conditions discussed
pared with the general population, individuals above occur with sufficient frequency that an
Down Syndrome 313
organized approach to medical management intervention services that address the hearing
is indicated. Some conditions require routine loss. Not all losses are present at birth; children
monitoring: congenital heart disease, hearing with Down syndrome are at increased risk for
loss, vision deficits, thyroid disorders, and celiac recurrent middle-ear infections leading to con-
disease. Gum disease and obesity are to be pre- ductive hearing losses and possibly even sensori-
vented. And vigilance must be maintained for neural hearing losses (Shott, 2006). Therefore,
disorders that occur more frequently in children the child with Down syndrome should have an
with Down syndrome than in the general popu- ear cleaning, a check for middle ear fluid, and a
lation, such as diabetes, seizures, arthritis, and hearing evaluation every 6 months from birth
leukemia. The American Academy of Pediatrics to 5 years of age and then annually from 5–21
(Bull & the American Academy of Pediatrics years of age (Cohen, 1999; Shott, 2006).
Committee on Genetics, 2011) has developed At least 57% of 3-year-olds with Down
guidelines for medical management of individ- syndrome have evidence of obstructive sleep
uals with Down syndrome (Figure 18.2). Sev- apnea when evaluated by polysomnograms
eral other reports have focused on providing (sleep study). Of the 69% of parents who
medical care to children with Down syndrome report no sleep problems in their child with
in specific age groups, including infants and Down syndrome, 54% of their children were
young children (Saenz, 1999), adolescents (Roi- found to have abnormal sleep studies (Shott
zen, 2002), and adults (Smith, 2001). et al., 2006). Because of this data, it is recom-
Congenital heart disease in children with mended that all children with Down syndrome
Down syndrome may be difficult to identify have polysomnograms by 4 years of age. If the
based on physical findings alone because it is diagnosis is confirmed and found to be associ-
not always accompanied by a cardiac murmur, ated with enlarged adenoids, antibiotic treat-
nor does it commonly produce a “blue baby.” ment is used and the adenoids are subsequently
However, because children with Down syn- removed surgically. If the adenoidectomy does
drome tend to develop pulmonary vascular dis- not correct the mechanical obstruction, other
ease sooner than other children with the same surgical procedures can be considered in order
defect, early identification and treatment are to enlarge the airway (Wootten & Shott, 2010).
essential. Although children with Down syn- Sleeping with continuous positive airway pres-
drome were once considered poor risks for car- sure (CPAP) or, infrequently, a tracheostomy
diac surgery, data now indicate that they have may be necessary to keep the airway open
a similar mortality as other children with the (Shott, 2006).
same heart defect (Fudge et al., 2010), but they As with all newborns, children with Down
have more postoperative complications. An syndrome are routinely screened for congeni-
echocardiogram is recommended for the new- tal hypothyroidism. In addition, they should
born with Down syndrome, even if there has have a TSH (thyroid stimulating hormone) test
been a prior fetal echocardiogram (Bull & the performed at 6 months of age, at 1 year, and
American Academy of Pediatrics Committee on then annually (Bull & the American Academy
Genetics, 2011). of Pediatrics Committee on Genetics, 2011).
Within the first 6 months of life, a pediat- More frequent thyroid function tests are indi-
ric ophthalmologist should evaluate newborns cated if the child displays accelerated weight
with Down syndrome for cataracts, strabismus, gains, behavior problems, plateauing of height,
and nystagmus (see Chapter 11). Subsequently, or an unexpected lack of cognitive progress.
these children should be evaluated yearly from If there is clinical and laboratory evidence of
1–5 years of age; every 2 years from 5–13 years hypothyroidism, treatment with thyroxine is
of age; and every 3 years from 13–21 years of indicated.
age (Bull & the American Academy of Pediat- The AAP Committee on Genetics (2011)
rics Committee on Genetics, 2011) to detect recommends that children with Down syndrome
refractive errors and other ophthalmic disor- who have symptoms of celiac disease be screened
ders that may develop after the first decade of using tissue transglutaminase IgA and quantita-
life (Creavin & Brown, 2009). tive IgA. At this time, growth should be moni-
Infants with Down syndrome who have an tored using growth charts for typical children
abnormal newborn hearing screen will need a (Centers for Disease Control, n.d.) using weight-
hearing evaluation by 3 months of age. If they for-height (dividing their actual weight by the
have a hearing loss, by 6 months of age they weight at the 50th percentile of their height age)
will need hearing aids and additional early and BMI (body mass index; see Chapter 8).
314
Birth to Infancy months Early childhood years Late childhood years

1 month
2 4 6 8 10 12 1 2 3 4 5 5 7 9 11 13 13 15 17 19 21
Karyotype •
Echocardiogram •
Hearing screen and follow-up •
Audiological 1
• Every 6 months
Ear specific audiogram 1

Annually
Eye exam for cataracts 2

•
Once in
Ophthalmology referral Annually Every 2 years Every 3 years
1st 6 mo
TSH (Thyroid Stimulating Hormone) • • • Annually
CBC (complete blood count) and differential

3
•
Hb (hemoglobin)
4
Annually
Hb only Annually
Radiographic swallowing assessment 5

If symptomatic
Lateral neck x ray in neutral position 6

If symptomatic
Tissue transglutaminase IgA and quantitative

If symptomatic
IgA7
Echocardiogram8 If symptomatic
1. If normal hearing established, do behavioral audiogram and tympanometry until bilateral ear specific testing possible. Refer child with
abnormal hearing to otolaryngologist.
2. Referral to ophthalmologist who has experience with Down syndrome to assess for strabismus, cataracts, and nystagmus.
3. To rule out transient myeloproliferative disorder; polycythemia.
4. Hb annually; CRP (c-reactive protein) and ferritin or CHr (reticulocyte hemoglobin content) if possible risk of iron deficiency or Hb < 11 g.
5. If marked hypotonia, slow feeding, choking with feeds, recurrent or persistent respiratory symptoms, failure to thrive.
6. If myelopathic symptoms: obtain neutral position spine films and, if normal, obtain flexion and extension films and refer to pediatric neuro-
surgeon or orthopedic surgeon with expertise in evaluation and treating atlanto-axial instability.
7. If symptoms of celiac disease are present.
8. If symptoms of acquired mitral or aortic valve disease such as increased fatigue, shortness of breath, or exertional dyspnea or abnormal
physical examination findings such as a new murmur or gallop.
Figure 18.2. Recommendations for preventive health care for children and adolescents with Down syndrome. (Source: Bull and American Academy of Pediatrics Committee on Genetics, 2011.)
Because of the high prevalence of peri- such as the National Down Syndrome Society
odontal disease, daily cleaning of teeth should and the National Down Syndrome Congress
begin as soon as they erupt. As with all chil- (see Appendix D), respite care options, and Sup-
dren, regular dental visits should also begin at plemental Security Income (SSI; see Chapter
this time. Orthodontic intervention is needed 41; Skotko, Capone, & Kishnani, 2009). Chil-
by most children with Down syndrome and dren with Down syndrome have a long history
becomes possible when the child is able to of involvement in early intervention programs
cooperate with and tolerate the therapy. (see Chapter 30). Studies of early intervention
The radiographic evaluation of children in Down syndrome indicate improved develop-
for atlantoaxial subluxation is reserved for those ment especially in fine-motor, social, and self-
who are symptomatic. Signs and symptoms of help skills (Guralnick, 1997).
spinal cord compression include the onset of The educational program of the child with
weakness in gait, torticollis (wry neck), neck Down syndrome needs to provide the optimal
pain, or bowel and bladder incontinence. The environment for learning. A balance of inclu-
AAP recommends a cautious sequence of evalu- sion in learning environments with typical chil-
ation, beginning with plain cervical spine films dren and therapeutic interventions needs to be
in the neutral position (Bull & the American planned for each child (Chapter 31). The indi-
Academy of Pediatrics Committee on Genet- vidualized education program (IEP) needs to
ics, 2011). If there are no radiological abnor- consider the child’s opportunities for socializa-
malities, flexion and extension films should be tion in the home and community and his or her
done, followed by referral to a pediatric neurodevelopmental and educational strengths and
surgeon or orthopedic surgeon with expertise needs. Most frequently, children with Down
in the evaluation and treatment of atlantoaxial syndrome have strengths in visual motor skills
subluxation. Children with radiologic findings and weakness in verbal short-term memory
indicating neck instability of an unacceptable (Wang, 1996). A visual approach that uses aids
degree and children with symptomatic sublux- such as written instructions, visual organiz-
ation are treated surgically with a neck fusion. ers, and schedules employs this strength. Such
The Special Olympics (see Chapter 34) have plans need to be reviewed and altered at regular
specific requirements for radiological assess- intervals.
ment for participation of children with Down In their role as advocates for their child
syndrome. These requirements focus on sports, with Down syndrome, most parents consider
such as diving, that may put stress on the neck using alternative and complementary thera-
(Special Olympics, Inc., 2004). pies for improvement of cognitive function and
Several other medical problems, such as appearance (Prussing, Sobo, Walker, & Kurtin,
diabetes and leukemia, occur more frequently 2005; see Chapter 38). Eighty-seven percent of
in children with Down syndrome than in the these parents do at some time treat their child
general population. Although screening for with an alternative therapy, most commonly
these disorders is not routinely performed, it combination nutritional therapy (e.g., Nutri-
is appropriate to lower the threshold for evalu- vene; Prussing, Sobo, Walker, Dennis, & Kur-
ation for individuals with Down syndrome. tin, 2004). Although there are many studies of
The clinician also should be alert to symptoms alternative therapies in individuals with Down
of behavioral and psychiatric disorders (e.g., syndrome, few meet even the minimal method-
autism, depression, psychosis, ADHD) and ology criteria of scientific studies (Roizen, 2005).
refer the individual for appropriate evaluation Alternative therapies often include mixtures
and treatment when indicated (see Chapter 29 and individual vitamins (e.g., vitamins A, C, E),
and Chapter 22). minerals (e.g., selenium, zinc), and hormones
(e.g., growth, thyroid); cell therapy or injections
of fetal lamb brains; facial plastic surgery; and
Intervention
drugs (e.g., piracetam). None of these has been
The parents of a newborn with Down syn- shown to be effective (Ellis et al., 2008; Roizen,
drome should be provided with a balanced view 2005). Some studies in children and adults with
of the condition. They should be given up- Down syndrome treated with donepezil (a drug
to-date print materials on infants with Down that increases the level of acetylcholine, which is
syndrome, the telephone number of the point- thought to be decreased in Alzheimer’s disease)
of-entry to the early intervention system, local show improvement in language and other func-
and national parent support/advocacy programs tion (Kishnani, 2009; Spiridigliozzi et al., 2007).
316 Roizen
Outcome remains to be learned and accomplished, the

educational and medical systems are probably
Since the 1970s, the prognosis for a productive more knowledgeable and comfortable with
and positive life experience for individuals with the special needs of children with Down syn-
Down syndrome has increased significantly, drome than with any other single diagnostic
largely due to the efforts of parent advocacy disability group.
groups. Children with Down syndrome were The American Academy of Pediatrics
among the first children with disabilities to be Committee on Genetics (Bull & the American
“mainstreamed” in public schools, and they have Academy of Pediatrics Committee on Genet-
been the pioneers in the trend toward inclusion. ics, 2011) recommended standards of medical
In a 25-year follow-up study, however, parents care that include evaluation, periodic monitor-
reported that inclusive educational placements ing, and vigilance for signs and symptoms of
and services became less common as their chil- the medical conditions that occur frequently in
dren neared and attained adulthood at age 21. children with Down syndrome. With optimal
The most difficult challenges included medi- audiologic, cardiac, endocrinologic, ophthal-
cal complications, bullying or ostracism, dis- mologic, and orthopedic functioning, children
appointments in their child’s ability to achieve with Down syndrome have the opportunity for
certain adult milestones (e.g., obtaining a driv- good health and developmental functioning.
er’s license), and a lack of adequate services and
supports in adulthood (Hanson, 2003).
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19 Inborn Errors
of Metabolism
Mark L. Batshaw and Brendan Lanpher

■ Understand the term inborn error of metabolism
■ Know the differences among a number of these inborn errors, including amino
acid disorders, organic acidemias, fatty acid oxidation defects, mitochondrial
disorders, peroxisomal disorders, and lysosomal storage diseases
■ Identify the characteristic clinical symptoms and diagnostic tests for these
disorders
■ Know which of these disorders have newborn screening tests available
■ Recognize different approaches to treatment
■ Understand the outcome and range of developmental disabilities associated
with inborn errors of metabolism
The food we eat contains fats, proteins, and example, children with phenylketonuria (PKU)
carbohydrates that must be broken down into have a deficiency in the enzyme that normally
smaller components and then metabolized by converts one amino acid (phenylalanine) to
hundreds of enzymes that maintain body func- another (tyrosine). An inherited deficiency of
tions. Approximately 1 in 2,500 children are this enzyme (phenylalanine hydroxylase) leads
born with a deficiency in one of the enzymes to the accumulation of phenylalanine, which at
that normally catalyzes an important bio- high levels is toxic to the brain (Antshel, 2010;
chemical reaction in the cells (Online Mende- van Spronsen, 2010). If PKU is not recognized
lian Inheritance in Man, 2010). These children and treated soon after birth, severe intellectual
are said to have an inborn error of metabolism. disability ensues (Figure 19.1). In contrast, in
Such an enzyme deficiency can result in the children with congenital adrenal hypoplasia, an
accumulation of a toxic chemical compound inherited enzyme deficiency leads to decreased
behind the enzyme block or lead to a deficiency production of certain steroid hormones (e.g.,
of a product normally produced by the defi- cortisol) that are essential for normal body func-
cient enzyme (Figure 19.1). The result may be tion. Females with this deficiency may be born
organ damage/dysfunction (often the brain), with ambiguous genitalia because they produce
various degrees of disability, or even death. For abnormal amounts of male steroid sex hormone
319
320 Batshaw and Lanpher
(testosterone) in utero (Antal & Zhou, 2009; of strict metabolic control for life in PKU was not
Nimkarn & New, 2010). Fortunately, for these widely appreciated. Her parents stopped her
disorders and others, newborn screening tests low-phenylalanine diet at age 7. Psychometric
and early treatment have permitted children testing at 10 years of age showed that Lisa had
who are affected to grow up with typical intel- an IQ score of 85. Despite some learning and
ligence and normal physiological functioning. behavioral difficulties, she graduated from high
Not all inborn errors of metabolism can be as
school and began working. When she became
effectively treated, however, because of delays
pregnant, however, she refused to go back on
in diagnosis or lack of an effective intervention.
This chapter provides examples from a range of a phenylalanine-restricted diet, despite her par-
inborn errors of metabolism to explain diagnos- ents’ and health care providers’ explanation of
tic and therapeutic advances that are improving the serious risks to her baby. Her child was born
the outcome of patients with these disorders. with a small head, and at age 5 had an intellec-
tual disability.
■ ■ ■ LISA
■ ■ ■ DARNEL
Lisa was discharged from the hospital at 3 days
of age. Her parents were surprised and upset Darnel babbled at 6 months and sat without
when they were called back a week later, after support shortly thereafter. His parents became
doctors reported that she had abnormal results concerned, however, when at 1 year of age he
for her screening test for PKU. Amino acid stud- had made no further progress. If anything, he
ies confirmed the diagnosis of PKU, and Lisa seemed less steady in sitting and was unin-
was placed on a formula that was low in phenyl- volved with his surroundings. His pediatri-
alanine. As Lisa grew, her parents could hardly cian worried that Darnel might have an autism
believe there was a problem because Lisa looked spectrum disorder. By 18 months, there were
and acted like a typically developing child and graver concerns. Darnel was no longer able to
achieved her developmental milestones on roll over; he was very floppy and did not appear
time. The visits to the metabolism clinic were to respond to light or sound. His pediatrician
difficult reminders of her “silent disorder.” Once referred Darnel to a genetics clinic, where an
Lisa entered elementary school, she began extensive workup eventually diagnosed him
resisting her dietary restrictions, and her parents as having Tay-Sachs disease, a genetic disor-
had difficulty maintaining good metabolic con- der affecting lipid metabolism in the brain.
trol. Lisa was born in 1970, when the importance Over the next 3 years, Darnel slipped into an
Figure 19.1. Inborn errors of metabolism are genetic disorders involving an enzyme deficiency. This enzyme
block leads to the accumulation of a toxic substrate and/or the deficient synthesis of a product needed for nor-
mal body function. In phenylketonuria (PKU) there is a toxic accumulation of phenylalanine behind the deficient
enzyme, phenylalanine hydroxylase.
Inborn Errors of Metabolism 321
unresponsive condition and required tube Table 19.1. Examples of inborn errors of
feeding. He finally succumbed to aspiration metabolism
pneumonia. As a result of the diagnosis, his par- Type I: Silent disorders
ents decided to undergo prenatal diagnosis in Phenylketonuria (PKU)
subsequent pregnancies. They now have two Congenital hypothyroidism
healthy children, and his mother underwent one Type II: Disorders presenting in acute metabolic crisis
termination of a fetus that was affected. Urea cycle disorders (ornithine transcarbamylase
[OTC] deficiency)
Organic acidemias (multiple carboxylase
Types of Inborn deficiency)
Errors of Metabolism Type III: Disorders with progressive neurological
deterioration
Inborn errors of metabolism are a rather
recently discovered group of diseases. PKU, Tay-Sachs disease
one of the first disorders of this type to be iden- Gaucher disease
tified, was described by Fölling in 1934. About Metachromatic leukodystrophy
300 additional disorders have been identified
since the 1950s, and a number of new ones are lead to brain damage and developmental dis-
described each year (Online Mendelian Inheri- abilities. These disorders contrast with inborn
tance in Man, 2010). The majority of these errors that cause episodic symptoms, such
enzyme deficiencies are inherited as autosomal as OTC deficiency, that may be acutely life
recessive traits, in which both parents carry a threatening with each decompensation, typi-
genetic change on one of their two copies of the cally starting in early infancy. In both cases, an
gene. These carriers are healthy and develop infant who is affected is generally protected in
typically, due to the normal second copy of the the womb because the maternal circulation can
gene. Patients who are affected typically inherit remove the toxic chemical or provide the miss-
two abnormal genes and have no normal ver- ing product. After birth, however, the infant
sion. A few metabolic disorders are transmitted must rely on his or her own metabolic path-
as X-linked disorders or through mitochondrial ways, and if they are abnormal, toxicity occurs
inheritance (see Chapter 1). Prenatal diagno- rapidly or over time, depending on the severity
sis is available for most of these disorders (see of the defect. In progressive disorders, there is
Chapter 4). the gradual accumulation of large molecules.
Although there are many different ways of These molecules are stored in the cells of vari-
categorizing these disorders, inborn errors of ous body organs, including the brain, where
metabolism are often divided into 1) those that they ultimately cause damage, leading to physi-
are clinically “silent” for a relatively long period cal and/or neurological deterioration. Many of
before being recognized, 2) those that pro- the small molecular disorders, both those that
duce acute metabolic crises, and 3) those that are silent and those with acute symptoms, are
cause progressive organ damage or dysfunction treatable with fairly good outcome. The large
(Table 19.1). molecular disorders, with a few notable excep-
Among the silent disorders are certain tions, have been far more difficult to treat, and
abnormalities involving amino acids (e.g., their outcome generally remains poor.
PKU) or hormones (e.g., congenital hypothy-
roidism). Disorders producing acute toxicity Clinical Manifestations
include certain inborn errors in the metabolism The clinical manifestations of the various
of small molecules, including ammonia, amino inborn errors of metabolism fall along a spec-
acids, organic acids, fatty acids, lactic acid, and trum, from lack of overt symptoms to life-
carbohydrates (Levy, 2009a, 2009b). Inborn threatening episodes.
errors of metabolism causing progressive dis- The silent disorders (e.g., PKU) do not
orders include most glycogen storage and per- manifest symptoms such as lethargy, coma, or
oxisomal and lysosomal storage disorders. The regression of skills. Instead, children who are
specific names of the disorders are often derived untreated develop very slowly and are typically
from their deficient enzyme (e.g., ornithine not identified as having intellectual disability
transcarbamylase [OTC] deficiency, a disor- until later in childhood.
der of nitrogen metabolism). Life-threatening crises characterize the
Silent disorders such as PKU do not mani- second group of inborn errors of metabo-
fest life-threatening crises, but if untreated, lism. Infants with these disorders appear to be
unaffected at birth, but by a few days of age they de Souza, & Netto, 2010; Martins, Valadares,
develop vomiting, respiratory distress, and leth- et al, 2009; Pastores et al., 2000)
argy before slipping into coma. These symp- • Ceroid lipofuscinosis such as Batten disease
toms, however, mimic those observed in other (Jalanko & Braulke, 2009; Rakheja, Nara-
severe newborn illnesses such as sepsis (blood- yan, & Bennett, 2007)
borne infection), brain hemorrhage, heart
• Mucopolysaccharide disorders (Martins,
and lung malformations, and gastrointestinal
Dualibi, et al., 2009; Muenzer, Wraith, &
obstruction, making the correct diagnosis dif-
Clarke., 2009)
ficult to identify. If specific metabolic testing of
the blood and urine is not performed, the disease • Metachromatic leukodystrophy (Biffi, Luc-
will go undetected. Undiagnosed and untreated, chini, Rovell, & Sessa, 2008; Gieselmann &
virtually all children who are affected will die Krägeloh-Mann, 2010)
quickly. One study reported that 60% of chil- • Peroxisomal disorders, including adreno-
dren with newborn onset inborn errors of the leukodystrophy (Fidaleo, 2009) and Zellwe-
urea cycle (causing elevated ammonia level) had ger syndrome (Steinberg et al., 2006)
at least one sibling who died before the disorder In the more severe of these disorders,
was correctly diagnosed in a subsequent child there is a gradual and progressive loss of motor
(Batshaw et al., 1982). Even with “heroic” treat- and/or cognitive skills beginning in infancy or
ment, which may include dialysis to “wash out” early childhood that, if left untreated, com-
the toxin (ammonia), many infants do not sur- monly leads to death in childhood. In the case
vive, and severe developmental disabilities may of Tay-Sachs disease (Darnel’s disorder in the
occur in those who do (Krivitzky et al., 2009). previous case study), the child who is affected
In children with neonatal-onset disease, appears to develop typically until 3–6 months
DNA analysis typically shows mutations that of age, at which point skill development halts.
cause the absence of the enzyme or the forma- For the next 1–2 years, the child gradually loses
tion of a completely nonfunctional enzyme. all skills; begins having seizures; and exhibits
Enzyme activity levels are generally undetect- decreased muscle tone, vision, hearing, and
able (see Chapter 1). Some children with the cognition. Death usually results from malnutri-
same inborn error of metabolism, however, tion or aspiration pneumonia. Unfortunately,
have less severe mutations that result in reduced no effective treatment currently exists for this
(rather than absent) amount of enzymes or that disorder.
result in enzymes that are only partially dys- Enzyme replacement therapy, however, has
functional. These children typically have later been recently found to be successful in treating
onset of clinical signs and more variable or sub- several lysosomal disorders (Gaucher disease,
tle symptoms. Here, symptoms of behavioral Fabry disease, and Hunter syndrome) in which
changes and cyclical vomiting and lethargy are target organs other than the brain are accessible
often provoked by excessive protein intake or to the recombinant enzyme (El Dib & Pas-
intercurrent infections (Seminara et al., 2010). tores, 2010; Grubb, Vogler, & Sly, 2010; Hol-
Although these children generally have a bet- lak, de Fost, van Dussen, Vom Dahl, & Aerts,
ter outcome than those with neonatal-onset 2009; Lim-Melia & Kronn, 2009; Wraith,
disease, they remain at risk for life-threatening 2009). However, the synthetic enzyme does not
metabolic crises throughout life. In addition, cross the blood–brain barrier, (the network of
although their developmental disabilities may blood vessels and cells around the brain that
be less severe than those in children with neo- act as a filter for blood flowing to the central
natal-onset disease, children with later onset nervous system) so it does not halt or reverse
disease rarely escape without some residual the cognitive effects of these disorders. Stem-
cognitive impairment, ranging from attention- cell and bone-marrow transplantation have
deficit/hyperactivity disorder (ADHD) and been somewhat helpful in certain mucopoly-
learning disabilities to intellectual disability. saccharidoses and leukodystrophies and cura-
The third clinical presentation of inborn tive in nonneuronopathic Gaucher (though the
errors of metabolism is in the form of a large enzyme replacement therapy for Gaucher has
molecule, slowly progressive disorder. Exam- been successful enough to obviate the need for
ples include the following: bone marrow transplantation in most patients;
• Lysosomal storage disorders, such as Gaucher Orchard & Tolar, 2010; Prasad & Kurtzberg,
and Tay-Sachs disease (Jardim, Villanueva, 2010; Shihabuddin & Aubert, 2010).
Mechanism of Brain Damage certain inborn errors, there are also rather spe-
cific impairments. These are sometimes asso-
The causes of brain damage in the various inborn ciated with distinctive pathological features in
errors of metabolism are not completely under- the brain, which may eventually permit a bet-
stood. Research is starting to provide some clues ter understanding of brain development and
that may eventually lead to improved treatment. function. For example, boys with the X-linked
For example, thyroid hormone has been found to Lesch-Nyhan syndrome exhibit choreoatheto-
be necessary for the normal growth of neurons, sis (a movement disorder), dyskinetic cerebral
their processes, and surrounding myelin in the palsy (see Chapter 24) and compulsive, self-
brain. Untreated, a congenital thyroid hormone injurious behavior (Nyhan et al., 2010). Chil-
deficiency is thought to lead to poor postnatal dren with glutaric acidemia type I, other organic
brain growth and result in microcephaly (Chen academia, and/or mitochondrial disorders can
& Hetzel, 2010). Fortunately there is neonatal have dyskinetic cerebral palsy associated with
screening available for this disorder, and early calcifications of the basal ganglia (Falk, 2010;
treatment is protective of brain development Gitiaux et al., 2008; Gouider-Khouja, Kraoua,
(Lafranchi, 2010). Benrhouma, Fraj, & Rouissi, 2010). In Zellwe-
Neurotoxins appear to play a role in cer- ger syndrome, a disorder of the peroxisome
tain other metabolic disorders. For example, in formation, children exhibit multiple malfor-
nonketotic hyperglycinemia, an inborn error of mations that are more commonly associated
amino acid metabolism, there is an accumula- with chromosomal abnormalities, including
tion of glycine, leading to uncontrolled sei- an abnormal facial appearance, kidney cysts,
zures (Hamosh, Scharer, & Van Hove, 2009). and congenital heart defects (Fidaleo, 2009).
Glycine appears to produce excitotoxicity at This indicates a prenatal origin of the abnor-
a neurotransmitter receptor, leading to the malities, unlike the other disorders described
influx of calcium ions and water into the neu- above where abnormalities occur as a result of
ron. This causes swelling and, eventually, cell an accumulation of a toxin or lack of a needed
death. Experimental drugs are being tested to product after birth.
block this receptor from being overstimulated
(Suzuki, Kure, Oota, Hino, & Fukuda, 2010).
In Lesch-Nyhan syndrome, which is caused by Diagnostic Testing
a defect in purine metabolism, deficits in the All children with significant developmental dis-
dopamine neurotransmitter system are asso- abilities of unknown origin should be referred
ciated with self-injurious behavior (Nyhan, for a genetic evaluation. As a part of that
O’Neill, Jinnah, & Harris, 2010). evaluation, particular attention will be paid to
In some disorders, more than one neuro- potential metabolic disorders if a child displays
toxin may be involved. Scientists believe that in any of the following signs or symptoms: cycli-
inborn errors of the urea cycle, the accumulat- cal behavioral changes, vomiting and lethargy,
ing toxins, ammonia and/or glutamine, directly enlargement of the liver or spleen, evidence
cause nerve cells to swell and indirectly cause of neurological deterioration, and/or a fam-
excitotoxic damage to the brain (Braissant, 2010; ily history suggestive of an inherited disorder
Lichter-Konecki, Mangin, Gordish-Dressman, (Kamboj, 2008). An increasing number of clini-
Hoffman, & Gallo, 2008). If children are res- cally available biochemical and molecular tests
cued from the ammonia-induced coma within can lead to a specific diagnosis. In some disor-
a day or two, the neurotoxic effect can subside ders, early diagnosis leads to therapy with an
and outcome can be fairly good (Krivitzky et al., improved outcome. Even in currently untreat-
2009). If the coma is prolonged, however, irre- able disorders, a specific diagnosis may permit
versible brain damage occurs. effective genetic counseling. A metabolic evalu-
ation is not required, however, for all children
Associated Disabilities with intellectual disability. It is expensive, and
the diagnostic yield is quite low.
The toxic accumulation of metabolic com- Diagnosis of an inborn error of amino acid
pounds or the deficient synthesis of essential or organic acid metabolism relies primarily on
products results in a range of developmental blood and urine tests to detect toxins and/or
disabilities in children with inborn errors of biochemical markers. The most common blood
metabolism. The most common are intellec- tests are for blood ammonia, lactic acid, acyl-
tual disability and cerebral palsy. However, in carnitines, and amino acids; urine is principally
tested for organic acids. The metabolic evalu- infections, a large dietary protein load), and
ations are individualized based on the specific the disorders may only be correctly diagnosed
biochemical pathway that is suspected to be during those acute episodes. To diagnose this
involved. OTC deficiency, the most common disorder, levels of ammonia and amino acids are
inborn error of the urea cycle, illustrates one measured in blood, and orotic acid is measured
such defective pathway (Figure 19.2). When in the urine. Many other inborn errors of amino
proteins are broken down into their amino acid and organic acid metabolism can be identi-
acids components, the amino acids that are not fied using similar blood and urine tests.
reused for making new proteins are degraded Brain degenerative conditions such as lyso-
to produce energy. During this process, nitro- somal storage disorders are typically diagnosed
gen waste is normally released as ammonia, by measuring the suspected deficient enzyme
which is then converted into the nontoxic activity in the blood or cultured skin cells (Mar-
product urea through six enzymatic steps, the tins et al., 2009b). Direct mutation analysis in
urea cycle (OTC is the second enzyme in the suspected genes may lead to the diagnosis more
cycle). Urea is then excreted in the urine, safely rapidly in some disorders. Imaging studies (e.g.,
eliminating waste nitrogen. If any one of the six magnetic resonance imaging [MRI], magnetic
enzymes is deficient, ammonia will accumulate resonance spectroscopy [MRS], computed
and can cause devastating neurological symp- tomography [CT] scan, electroencephalogram
toms (Gropman, Summar, & Leonard, 2007). [EEG]), and other neurological measures (e.g.,
In those individuals with some residual enzyme nerve conduction velocity, electromyography)
activity, the disorder may only manifest under may also prove helpful in diagnosing these dis-
certain environmental stresses (e.g., severe orders.
Figure 19.2. The urea cycle and alternate pathway therapy. There are five enzymes in this cycle that convert toxic ammo-
nia, a breakdown product of protein, to nontoxic urea, which is excreted in the urine. The enzymes, shown in boldface italic
type, are CPS (carbamyl phosphate synthetase), OTC (ornithine transcarbamylase), AS (argininosuccinate synthetase), AL
(argininosuccinate lyase), and arginase. Inborn errors at each step of the urea cycle have been described, with the most
common being OTC deficiency. In OTC deficiency, behind the block there is accumulation of ammonia, glutamine, and
orotic acid and deficient production of citrulline. Treatment has been directed at providing an alternate pathway for waste
nitrogen excretion by giving the drug sodium phenylbutyrate, which combines with glutamine to form phenylacetylglu-
tamine, a nontoxic product that can be excreted in the urine. This results in a decrease in the accumulation of ammonia.
Newborn Screening information is provided on the National New-

born Screening and Genetics Resource Center
Because individual inborn errors of metabo- web site (http://genes-r-us.uthscsa.edu).
lism are rare (typically occurring in fewer than To perform the newborn screening test,
1 in 10,000 births) and the diagnosis is easily a few drops of blood are drawn from the
missed, efforts have been directed at developing infant’s heel and placed on a filter paper. The
newborn mass screening methods for the detec- dried blood sample is mailed to the screening
tion of the more common and treatable disor- laboratory, where results are obtained within
ders (Fernhoff, 2009; Pitt, 2010). As explained a few days. Although these tests have proved
previously, rapid diagnosis and treatment are to be remarkably effective, parents should be
essential in achieving a favorable outcome. As reminded that a positive test only indicates a
a result, screening efforts have focused on new- higher than normal likelihood of a genetic dis-
born infants. The first newborn screening test order that needs to be confirmed or ruled out
was developed for PKU in 1959, and it was suc- by additional confirmatory testing in the spe-
cessful in detecting more than 90% of infants cialized clinic. In addition, the tests detect only
who are affected. Subsequently, methods have a fraction of disorders that cause developmental
been established for screening other disorders, disabilities, whereas parents might incorrectly
including congenital hypothyroidism, galacto- assume that these tests are diagnostic for all dis-
semia, homocystinuria, biotinidase deficiency, orders (see Newborn Screening in Chapter 5).
maple syrup urine disease, and fatty acid oxi-
dation defects, as well as certain other genetic
disorders that are not associated with devel-
Therapeutic Approaches
opmental disabilities, including cystic fibrosis, Figure 19.3 illustrates the varying approaches
adrenal insufficiency, sickle-cell disease, and to treating inborn errors of metabolism. These
alpha1-antitrypsin deficiency (a disorder affect- methods include 1) substrate deprivation
ing the liver and lungs). This expanded testing, (dietary restriction of a potentially toxic material
now employing tandem mass spectrometry in normally metabolized by the defective enzyme),
state-run screening laboratories, can measure 2) externally supplying the deficient prod-
more than 30 inborn errors of metabolism and uct (e.g. thyroid hormone), 3) stimulating an
is offered to families in the newborn nurseries alternative pathway around the enzyme block,
(Sahai & Marsden, 2009). The specific inborn 4) providing a vitamin cofactor to stimulate
errors of metabolism tested for vary among the deficient enzyme, 5) replacing the enzyme
states based on local legislation. State-specific with the infusion of a synthesized enzyme,
Figure 19.3. Approaches to treatment of inborn errors of metabolism. Treatment can be directed at 1) limiting the intake of a
potentially toxic compound, 2) supplementing the deficient product, 3) stimulating an alternate metabolic pathway, 4) providing
a vitamin co-factor to activate residual enzyme activity, 5) supplying the enzyme itself, 6) transplanting a body organ containing
the deficient enzyme, and 7) gene therapy.
6) transplanting an organ that has normal Fortunately, phenylalanine-restricted diets

enzyme activity, and 7) using gene therapy to are quite effective for patients with PKU. A
substitute for the abnormal gene that is causing classic study showed that the IQ scores of chil-
the disease. With the exception of gene therapy, dren who began this treatment within the first
which is not yet a clinical option, each of these month of life were around 100, whereas the
approaches is illustrated by specific disorders in scores of those initially treated later in child-
Table 19.2. hood were 20–50 points lower (Hanley, Linsao,
& Netley, 1971).
Substrate Deprivation Scientists initially thought that only those
(Dietary Restriction) children with PKU who were younger than
6 years needed to follow a phenylalanine-
A relatively straightforward method of treating restricted diet, as was done with Lisa. For
an inborn error of metabolism is to establish older children, it was thought that phenylala-
dietary restrictions that limit the child’s intake nine would be much less toxic. In addition, the
of a potentially toxic amino acid. For example, high cost and rejection of this rather unpleasant
children with PKU are placed on a phenylala- and restrictive diet made continuation difficult.
nine-restricted diet in order to prevent the phe- Initial studies to determine whether children
nylalanine accumulation that is associated with with PKU experienced a loss in intellectual
brain damage (Poustie & Wildgoose, 2010). functioning following dietary treatment dis-
This involves a diet consisting of a special phe- continuation suggested that IQ scores did not
nylalanine-restricted formula combined with decline over time (Waisbren, Mahon, Schnell,
low-protein foods. It is important to note that & Levy, 1987). In a subsequent study, however,
the diet for patients with PKU cannot be com- researchers found that children with PKU who
pletely free of phenylalanine. Phenylalanine is maintained the diet through age 10 actually
an essential amino acid, and a small amount is experienced a modest gain in IQ scores com-
necessary for normal growth and development. pared with children who stopped the diet at age
Close monitoring of essential amino acids is an 6. The differences in IQ scores between the two
important component of the management of groups were statistically significant (Michals,
patients on controlled diets for metabolic dis- Azen, Acosta, Koch, & Matalon, 1988). Thus,
orders. metabolic specialists now suggest that the
Table 19.2. Examples of treatment approaches for inborn errors of metabolism

Approaches Disorder Specific treatment
Substrate deprivation Phenylketonuria (PKU) Phenylalanine restriction
Maple syrup urine disease Branch chain amino acid restriction
Galactosemia Galactose restriction
Externally supplementing the defi- Congenital hypothyroidism Thyroid hormone (Synthroid)
cient product Glycogen storage disease Cornstarch
Urea cycle disorders (except Arginine
argininemia)
Stimulating an alternative pathway Urea cycle disorders Phenylbutyrate (Buphenyl)
Organic acidemias Carnitine
Isovaleric acidemia Glycine
Tyrosinemia NTBC
Providing a vitamin co-factor Multiple carboxylase deficiency Biotin
Homocystinuria Pyridoxine
Methylmalonic acidemia Vitamin B12
Replacing an enzyme Fabry disease Agalsidase beta (Fabrazyme)
Gaucher disease Alglucerase (Ceredase)
Hurler disease Alpha-L-iduronidase (laronidase
[Aldurazyme])
Transplanting an organ Metachromatic leukodystrophy Bone marrow transplant
Ornithine transcarbamylase (OTC) Liver transplant
deficiency
phenylalanine-restricted diet be continued with congenital adrenal hyperplasia receive

indefinitely. steroid hormone replacement. Children with
An elevated maternal phenylalanine level hypothyroidism who are treated in the first
poses a serious threat for the fetus of a woman months of life develop typical intelligence;
with PKU who is without dietary control, as however, as with children who have PKU,
described with Lisa (Lee, Ridout, & Walter, these children have some residual impair-
2005). Before newborn screening and effec- ment in attention and learning (van der Sluijs
tive treatment were available, men and women Veer, Kempers, Last, Vulsma, & Grootenhuis,
with PKU had severe intellectual disability 2008). The medical formulas for PKU are
and did not often bear children. Since effec- enhanced in tyrosine, the product of the defi-
tive treatment became available, most women cient enzyme. Tyrosine is an important pre-
with PKU became mothers. These women, cursor for a number of neurotransmitters. The
however, had typically stopped following the goals of PKU management include both con-
phenylalanine-restricted diet during child- trolling phenylalanine elevations and ensuring
hood. Unexpectedly, almost all of the chil- adequate tyrosine.
dren born to these women were found to have
microcephaly, intellectual disability, and other Stimulating an Alternative Pathway
congenital abnormalities, including congenital Physicians are now able to treat some metabolic
heart disease, cleft lip and palate, and gastro- disorders by stimulating an alternative path-
intestinal and urinary abnormalities. These way that detours around the enzymatic block.
children, however, do not have PKU; they are For example, children with inborn errors of
only carriers. Instead, the intellectual disabil- the urea cycle cannot convert toxic ammonia
ity and other abnormalities are caused by the to nontoxic urea. Treatment by dietary pro-
teratogenic (interfering with normal embry- tein restriction alone has proven unsuccess-
onic development) effect of the mother’s high ful because the degree of restriction required
phenylalanine levels on the developing fetus. to prevent an accumulation of ammonia does
Studies have shown that lowering the phe- not allow a sufficient diet to permit sustained
nylalanine levels in the pregnant mother with growth or prolonged survival (Shih, 1976). A
PKU significantly improves the chances for different approach is to use the drug sodium
typical development of offspring. As a result, it phenylbutyrate to stimulate an alternate path-
is now advised that women with PKU resume way for ammonia excretion. By providing a
a phenylalanine-restricted diet prior to con- detour around the enzymatic block and con-
ception (American College of Obstetricians verting the ammonia to an alternate nontoxic
and Gynecologists Committee on Genetics, product, phenylacetylglutamine, instead of urea
2009). (Figure 19.2), this drug allows the majority of
Another example of substrate deprivation children with urea cycle disorders to survive,
therapy has shown promise in animal models of although many have developmental disabilities
PKU. Here, the use of a recombinant enzyme (Enns et al., 2010).
to degrade phenylalanine in the intestine before Another example of using a detour is the
its absorption could reduce the phenylalanine inhibition of a pathway upstream to prevent the
load and allow less severe dietary restriction formation of toxic products behind the enzy-
(Sarkissian et al., 2008). In certain lysosomal matic block. In hereditary tyrosinemia type I,
storage disorders, inhibition of glycosphingo- the drug NTBC, an herbicide derivative, was
lipid synthesis would have the analogous effect found to inhibit tyrosine degradation in chil-
of reducing lysosomal products that are toxic to dren who were affected, preventing the forma-
the brain (Jakobkiewicz-Banecka et al., 2007; tion of a toxic compound that is suspected to
McEachern et al., 2007). cause liver and kidney disease and liver cancer
in these children (Masurel-Paulet et al., 2008;
Externally Supplementing Sniderman King, Trahms, & Scott, 2008).
the Deficient Product Similarly, miglustat, used for the treatment
Some children with inborn errors of metabo- of Gaucher disease, inhibits the formation of
lism are given replacements for the enzyme glucosylcermide, reducing the accumulated
product they are missing. For example, chil- substrate load and improving clinical outcome
dren with congenital hypothyroidism receive (Pastores, Giraldo, Chérin, & Mehta, 2009).
a thyroid supplement to compensate for the It is being tested for other lysosomal storage
thyroid hormone they lack. Similarly, children disorders as well (Niemann-Pick Type C, Late
Onset Tay-Sachs, and Type 3 Gaucher disease; the glucocerebroside accumulates in the brain
Pineda et al, 2010; Shapiro, Pastores, Gianut- as well. Individuals who receive biweekly injec-
sos, Luzy, & Kolodny, 2009). tions of the deficient enzyme showed marked
improvements, including significant shrinkage
Providing a Vitamin Cofactor of the liver and spleen (Charrow, 2009; Hol-
For certain patients with metabolic diseases, lak et al., 2009). This enzyme, however, cannot
providing a large dose of a vitamin cofactor cross the blood–brain barrier, making replace-
results in amplification of residual enzyme ment therapy ineffective for those children
activity or enhanced enzyme stability and with severe infantile Gaucher disease. As of
clinical improvement. This approach has 2010, specific enzyme replacement therapy has
been used most effectively in treating chil- been approved for Fabry disease, mucopoly-
dren with an organic acidemia called biotini- saccharidosis type I (Hurler disease), muco-
dase deficiency (Wolf, 2010). These children, polysaccharidosis type II (Hunter disease),
who develop symptoms of acidosis and coma mucopolysaccharidosis type VI (Maroteaux-
because of a defect in the enzyme biotinidase, Lamy syndrome), and glycogen storage disease
show remarkable improvement if the vitamin II (Pompe disease), and this therapy is being
biotin is provided at a very high (but nontoxic) tested for other lysosomal storage diseases
dosage. The primary defect in biotinidase defi- (Lim-Melia & Kronn, 2009).
ciency is the inability of the body to recycle the Although replacement therapy seems ideal,
vitamin biotin. Biotin is an essential cofactor it is not without shortcomings. These synthetic
for a number of critical enzymes in multiple enzymes are some of the most expensive drugs
metabolic pathways. By supplying patients in the world. In addition, the enzyme must be
with large doses of biotin, these enzymes are injected at frequent intervals throughout the
normalized. In other disorders, the mutation individual’s life, and antibodies can develop
may affect the binding site for enzyme cofac- against the foreign protein, just as antibodies
tors. In some of these cases, providing large against insulin develop in some individuals with
quantities of a vitamin cofactor may stabilize diabetes. Many patients experience hypersensi-
and even normalize enzyme activity. This type tivity reactions to their infusions, ranging from
of vitamin therapy can help children with cer- mild flushing and nausea to severe, life-threat-
tain forms of another organic acidemia called ening anaphylactic reactions.
methylmalonic aciduria (using vitamin B12;
Froese, Zhang, Healy, & Gravel, 2009) and Transplanting an Organ
an amino acid disorder called homocystinuria Some deficient enzymes can be replaced by
(using vitamin B6; Clayton, 2006; Picker et al., transplanting a body organ that contains the
2006). Certain patients with PKU respond enzyme. For example, bone marrow, cord
well to an analogue of tetrahydrobiop-terin blood, and stem cell transplantation have been
(Blau et al., 2009). Vitamin therapy has unfor- done in individuals with certain lysosomal and
tunately spawned a “quick-fix” approach to peroxisomal storage disorders, including juve-
treating everything from cancer to Down syn- nile metachromatic leukodystrophy, adreno-
drome and schizophrenia, although there is no leukodystrophy, and Hurler syndrome. These
evidence that megavitamin therapy is effective disorders, marked by neurological and physi-
in treating these disorders (Braganza, 2005; cal deterioration and early death, are caused
Nutrition Committee of the Canadian Paedi- by the deficiency of enzymes found in many
atric Society, 1990). body organs, including bone marrow cells. In a
number of studies, transplantation has resulted
Replacing an Enzyme in the arrest of or improvement in symptoms,
The previously discussed methods of therapy although it is questionable whether it has an
use indirect approaches to improve the child’s effect on brain function (Biffi et al., 2008;
condition. Supplying the missing enzyme is a Cartier & Aubourg, 2008; Orchard & Tolar,
more direct approach to actually correct the 2010; Prasad & Kurtzberg, 2010; Semmler,
inborn error. Injections of a synthetic enzyme Köhler, Jung, Weller, & Linnebank, 2008).
first proved successful in treating the lysosomal In addition to bone-marrow, stem-cell,
storage disorder Gaucher disease, which is and cord-blood transplants, liver transplan-
associated with the accumulation of glucocer- tation has been used to treat certain inborn
ebroside in cells of the liver, spleen, and bone errors of amino acid metabolism, most nota-
marrow. With severe infantile Gaucher disease, bly newborn-onset OTC deficiency and
hereditary tyrosinemia type I. It has been SUMMARY

associated with biochemical correction and
Although inborn errors of metabolism are
improvement in symptoms (Campeau et al.,
rare, their consequences are often devastating.
2010; Moini, Mistry, & Schilsky, 2010; Snider-
Fortunately, therapy is effective for a number
man King, Trahms, & Scott, 2008). In some
of these disorders. Children who are affected,
cases of methylmalonic acidemia, liver trans-
however, often must continue treatment for the
plant in conjunction with kidney transplant
rest of their lives, which may prove difficult.
has been effective. Organ transplantation does
For therapy to succeed, it must be started early.
carry a certain risk of mortality and morbidity,
Researchers continue to look for new thera-
and transplant recipients require immunosup-
peutic strategies for these diseases. It is hoped
pression therapy for life.
that these new therapeutic approaches will
continue to improve the outcome for children
Using Gene Therapy with inborn errors of metabolism. The expan-
In theory, an ideal treatment for an inborn error sion in the number of disorders that are tested
of metabolism would involve the insertion of a by newborn screening also bodes well for early
normal gene to compensate for a defective one. identification and treatment with the possibility
This insertion would allow for the produc- of improved outcome.
tion of a normal enzyme, thereby permanently
correcting or curing the disorder. In clinical
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20 Speech and
Language Disorders
Sheela Stuart

■ Be able to describe the different elements of speech and of language
■ Be familiar with the biological processes that underlie speech and language
■ Understand the typical course of language development
■ Understand considerations in bilingual language acquisition
■ Know the major types of speech and language disorders and their causes
■ Be aware of the methods of speech and language assessment
■ Recognize the treatment approaches for these communication disorders
As humans, one of the major means of partici- infant he cooed and babbled and began walk-
pating in our lives is through communication. ing at 12 months, he has never talked. He often
We complain, calm, greet, request, inform, grunts and points to things he wants, and he
question, praise, compliment, argue, demand, has begun to consistently make a few sounds
order, correct, beg, invite, cajole (and so the list for “mama,” “daddy,” “up,” “bow wow,” and
continues). Although there are many different “cup.” He has never been seriously ill, and
elaborate, sophisticated, versatile, and creative
an audiological evaluation revealed normal
ways of communicating (e.g., body language,
hearing.
signing), the means most frequently used is
talking. Therefore, families herald a child’s first He was evaluated by a speech-language
words with joy, and when there is a problem in pathologist (SLP). During this evaluation, the
the development of the child’s ability to talk, therapist played with David. She tried to get
anxiety occurs. The following letter is an exam- him to say words and imitate animal sounds
ple of this situation. that she made, and they spent some time look-
ing in the mirror while she tried to get him to
■ ■ ■ Letter from a imitate facial expressions. She also asked him
worried grandmother to look at pictures in a book and do things she
Dear Pediatric Speech Pathologist: My grand- requested (point to the picture of the baby, put
son, David, is 2½ years old. Although as an the block in the box, behind the bear, and so
333
334 Stuart
forth). In addition, she used a long interview approaches used to overcome communication
sheet. She asked David’s mother about how he disorders.
plays, what he does to interact with her and with
other children, whether he follows directions, COMPONENTS OF
and so forth. Her report concluded that David’s COMMUNICATION
receptive language was at approximately the
Communication has been studied by many dif-
18- to 20-month level, and his expressive lan-
ferent professionals including linguists, psy-
guage was at approximately the 9- to 12-month
chologists, anthropologists, literature scholars,
level at 30 months chronological age. We still SLPs, neuropsychologists, and even engineers
have many questions. What causes this type of and biologists. Because each profession’s inter-
problem? Will David eventually talk? If his par- est in communication comes from a different
ents decide to have another child, is this type of perspective, the resulting information includes
problem likely to reoccur? a variety of terminology and at times contrast-
This chapter approaches Grandmother’s ing viewpoints.
questions by describing the physiological Regardless of the perspective, it is rec-
aspects of talking (i.e., speech and language), ognized that the human brain is the underly-
what can go wrong, and how to evaluate and ing mechanism that supports and coordinates
treat impairments. We have included the typi- the separate processes of communication.
cal developmental pathway/timeline used as The brain is a dynamic organ, the function of
a guideline in determining delays and/or dis- which varies depending upon the age, personal
orders (see Table 20.1). Acknowledging that experiences, and even gender of the individual.
there is no single way children learn to com- The brain includes interconnecting pathways
municate, we have also included information among areas that regulate, integrate, and for-
about bilingualism and cultural influences in mulate communicative messages. Many of the
language acquisition. We discuss the underly- specific functions related to hearing, speech,
ing causes of speech and language disorders, and language are found in the cerebrum (cere-
including findings of genetic links to specific bral cortex). The frontal lobe of the cerebrum
communication disorders. Finally, we address contains the primary motor and Broca’s speech
the various types of therapy and compensatory production areas. The temporal lobe contains
Table 20.1. Indications for speech-language evaluation

Age for referral Indications for referral
Birth to 6 months Does not respond to environmental sounds or voices
3–4 months Does not gesture or make sounds to indicate he or she wants
you to do something
Has no interactive eye gaze
1 year Does not follow simple commands or understand simple
questions (e.g., “Roll the ball,” “Kiss the doll,” “Where’s
your shoe?”)
Does not say 8–10 words spontaneously
Does not identify three body parts on self or doll
2 years Does not use some one- or two-word questions (e.g., “Where
kitty?” “Go bye-bye?” “What’s that?”)
Does not use at least 50 understandable, different words
Does not refer to self by name or pronoun (e.g., “me,”
“mine”)
3 years Does not understand differences in meaning (e.g., go/stop,
in/on, big/little, up/down)
Does not respond to wh-questions (e.g., who, what, where)
Does not tell you about something in two- or three-word
“sentences”
4 years Has difficulty learning new concepts and words
Still echoes speech
Has unclear speech
Does not explain events
Speech and Language Disorders 335
the primary auditory and Wernicke’s speech 2001). As related to speech and language, hear-
comprehension areas. The occipital lobe is ing includes being able to perceive the sounds
concerned with vision, and the parietal lobe (auditory perception) and being able to decode
controls somatesthetic (bodily) sensations. It is the different sounds for meaning (auditory pro-
important to state that this description may give cessing). At birth, infants are able to listen to and
an impression that is deceptively simple. In an discriminate among different speech sounds.
article by Ross (2010), an argument is made to The newborn immediately begins to listen to
suggest that functional localization of behavior the stream of speech sounds within his or her
related to specific areas of the brain (such as environment and begins attaching meaning to
language) is a much more robust, dynamic, and these sounds. The infant also becomes both sen-
four-dimensional process. Ross further states sitive to speech sound contrasts that make up the
that localization of such functions as language native language and insensitive to unimportant
are a learned phenomenon driven over time by phonetic contrasts
large-scale, spatially distributed, neural net-
works that process, store and manipulate infor- Speech
mation for cognitive and behavioral operations. Speech involves the production of sounds and
It is useful to understand some gen- syllables according to language rules. Voice is
eral information about the complex activities the sound source for producing words. Breath
of understanding (receptive) and producing from the lungs is channeled through the larynx
(expressive) language. An example of recep- and provides the power source to set the vocal
tive language functioning occurs when a person folds vibrating, producing sound. The sound is
hears the word “cup.” The sound signal is trans- shaped into specific patterns by a series of rapid
mitted along the auditory pathway, which then movements of various structures in the mouth,
sends it to Wernicke’s area, in which neurons including the tongue and lips, a process called
that correspond to that particular combina- articulation.
tion of sounds are activated. Other neurons are
then activated to store a visual picture of a cup, Prosody
and additional ones store concepts about how Prosody involves the use of pitch, loudness,
cups are used. If a person wishes to name the tempo, and rhythm in speech to convey infor-
object “cup,” he or she would first activate the mation about the structure and meaning of an
internal visual picture of a cup (e.g., shape, uses, utterance. Achieving the goal of communica-
materials used for cups). These ideas would be tion through talking requires that a child pro-
channeled through the speech area of the brain duce words in a particular easy fluid manner.
(Broca’s area). Here, these thoughts are con- This process involves the joining of sounds, syl-
verted into patterns of motor movement, then lables, words, and phrases within oral language
transmitted to the motor strip located in the without hesitations or repetitions. It involves
frontal lobe of the cerebrum, in which impulses rate, rhythm, stress, and the use of supraseg-
for the muscle movement needed to produce mentals. This area of speech production is com-
the sound /cup/ are transmitted. monly called fluency.
To answer David’s grandmother’s ques-
tions, it will be important to discuss aspects of Language
specific areas involved in the process of listen-
Language includes three major components
ing and talking. We provide a brief summary
(form, content, and use), each containing basic
of the general components of the communica-
rule systems. Form includes the processes syn-
tion process and remind the reader that this is
tax, morphology, and phonology that connect
a complex process in which components work
sounds and symbols (words) in order. Content
interactively (Figure 20.1).
includes meaning or semantics, and use includes
the area called pragmatics.
Hearing When we talk, the following occurs
To develop typical speech, children must perceive according to the rules for each component: We
speech sounds. Normal hearing (see Chapter 10) have an idea and encode it (semantics) into a
is essential to this process so that children have symbol (e.g., sound/word). To produce this
an active model based on what they hear and can word we select appropriate sound units (pho-
monitor and modify what they say. Infants actu- nology), appropriate word beginnings and end-
ally begin listening to speech and language in ings to further define meaning (morphology),
utero (Sohmer, Perez, Sichel, Priner, & Freeman, and appropriate word order (syntax).
336
Figure 20.1. Components of human communication.

Finally, the purpose of talking is to accom- opportunities for turn-taking and unique child
plish a functional goal as we participate in life. expression.
Pragmatics provides the rules for using lan- Although speech and language learning
guage contextually to achieve functions. For continues throughout life, language learners
example, to request, comment, repair/clarify, generally go through two waves of language
reject/protest, and question we must adhere to acquisition: 1) developing form-function or
the rules of form and content, and pragmatics “rule” knowledge, and 2) refining skills involv-
(Beukelman & Mirenda, 2005). ing increased speed of verbal communication
and processing. Cummins (1991) discussed the
need for English language learners to develop
TYPICAL DEVELOPMENT conversational competence that he called basic
OF SPEECH AND LANGUAGE interpersonal communication skills (BICS)
At birth babies cry, coo, and then begin to bab- and competence in communicating within the
ble, but these are reflexive, nonreflexive, and classroom called cognitive academic language
vegetative sounds. A very young infant cries out proficiency (CALP). Knowledge about each of
of distress or discomfort. The infant is not crying the developmental stages provides the basis for
with the desire of conveying a message. There- the formal testing used in assessing language
fore, the productions at this time are termed pre- skills, with a caveat that “typical development”
intentional communications (Sachs, 2005.) includes wide individual variability.
However, Harding (1983) noted that the
mother assigns a meaning/message to the pre- BILINGUALISM
intentional communications and responds to
the infant’s needs. The response (including In 2010, the U.S. Census Bureau reported that
the mother talking to the child in an engaging, 16.8% of children between 5 and 17 years of
encouraging manner) creates the possibility for age (or about 9 million) were bilingual, speak-
the child to begin using different cries to coming English “very well” alongside another lan-
municate different messages. During the first guage spoken at home (U.S. Census Bureau,
year, the infant progresses to become an inten- 2010). Children learning two languages fol-
tional communicator, and by the second year low the general acquisition patterns previously
the communicative intent becomes encoded described, but there are additional factors to
into words and language. be considered. The child is not only learning
An infant’s first words are produced around two languages but also two cultures, a process
12 months and are related to the world of called language socialization. This socializa-
objects and events. Research has revealed that tion involves ways in which language learning
the process of acquiring words and expanding reflects and is used to further develop person-
language is highly correlated to joint atten- hood, status, and authority (Genesee, Paradis,
tion, social cognition, and cultural influences & Crago, 2004; Paugh, 2005). The second
(Strauss & Ziv, 2001; Tomasello, 2000). The language may be learned simultaneously or
joint attention/social cognition behaviors have successively. In simultaneous acquisition both
been incorporated into a concept called “The- languages develop prior to age 3. This is char-
ory of Mind” that addresses the development of acterized by initial language mixing, followed
a child’s ability to understand the mental states by a slow division of vocabulary and form-
and behaviors of others. Miller (2006) states function rules. In successive acquisition a child
that although Theory of Mind requires several learns one language (L1) at home followed by a
years to develop, it begins with the infant’s joint second language (L2) at school after the age of
attention or joint reference. 3 years (Owens, 2008b).
In typical development, a child’s own pref- It is a common assumption that bilingual
erences and tendencies, as well as the caregivers’ children are at a disadvantage or delayed in their
use of language and the course of communica- language development. Although there can be
tion/interactions throughout each day con- these effects, the reality is much more complex.
tribute to the language acquisition process. Kohnert (2004) studied typically developing
Maternal behaviors often involve repetitive bilingual children and found that the two lan-
routines and sequences/games (Owens, 2008a). guages may develop at similar rates and in a simi-
The mother might say, “How big are you?” lar direction, or they may diverge so that the skill
“SOOOO Big!” “That big?” Repetitions such in one language increases at the same time that
as this maintain joint attention while offering the skill in the other language reaches a plateau
338 Stuart
or decreases. Variability in the timeframes and TYPES OF

patterns of language acquisition, as well as vari- COMMUNCATION DISORDERS
ability in the child’s resulting competence in each
language, has become the norm of developing Speech Disorders
bilingualism (Kohnert & Goldstein, 2005). True
balanced bilingualism (skill level comparable in Speech disorders are caused by problems in
both languages) is rare. making sounds correctly. These are most fre-
quently due to 1) articulation difficulties—not
making the sound in the proper area of the
COMMUNICATION DISORDERS oral mechanism and/or proper movements of
By first grade, 5% of children in the United the oral mechanism (tongue, lips, teeth, jaw)
States are identified as having some type of a to produce the sound properly; 2) phonologi-
communication disorder (National Institute on cal processing disorders—not learning the rules
Deafness and other Communication Disorders about which sounds go together in specific
[NIDCD], 2010). In some instances this is an positions within words when sounds are voiced
associated impairment, secondary to underly- or voiceless; and 3) resonance disorders—atypi-
ing hearing loss, trauma, autism, cognitive dis- cal amounts of nasality, often caused by struc-
ability, or genetic syndrome. For the majority tural malformations such as enlarged adenoids
of children, however, the cause is unknown. and tonsils, or structural anomalies such as a
Genetic associations with various communica- deviated septum.
tion disorders are being identified (Kang et al., There is a developmental progression in
2010; Shriberg et al., 2005, 2006) and may form the ability to accurately articulate phonemes.
the basis for interventions focused on remediat- In English, the sounds /p/ and /b/ may be cor-
ing the underlying impairment. rectly produced by 12–24 months, but sounds
such as /r/ and /l/ may take a child up to age 6
to correctly produce (Goldman & Fristoe, 2000).
ASSESSMENT Sound patterns, such as vowel–consonant and
The process of the speech-language assess- consonant–vowel–consonant, require practice
ment includes a primary caregiver interview, to produce correctly, especially when they are
an examination of the child’s oral motor in different positions within words. The child’s
mechanism and functioning, testing of recep- abilities depend on the interaction of their hear-
tive and expressive language, and evaluation of ing/attending (listening to others produce the
speech sound production, voice, and fluency. It sounds and self-monitoring their productions)
is important to include an audiological exami- and the control and coordination of the move-
nation to determine the status of the child’s ment and placement of tongue, lips, and jaw.
hearing, preferably prior to a speech-language
assessment. Language Disorders
The assessment includes the SLPs’ clini- Children with developmental disabilities strug-
cal observations of the child’s interactions dur- gle with language development. As in the previ-
ing the session with people, toys, and books. In ous discussion, there are many causes, hearing
addition, the SLP will assess the child’s abili- being one of the first considerations (see Chap-
ties through the use of standardized tests and ter 10). The degree of hearing impairment
gather additional information with informal (mild versus severe-profound) has a variable
checklists. Standardized tests are designed to impact on acquiring speech and oral language.
assist the examiner in determining if the child Without appropriate opportunities to learn lan-
lags behind children of his or her age in the use guage, however, children with hearing loss will
of particular speech or language skills. fall behind their hearing peers in communica-
Table 20.2 is a listing of some frequently tion, cognition, reading, and social-emotional
used formal measures of speech and language development (Joint Committee on Infant Hear-
skills. There obviously are many more and ing, 2007). It should be noted that the long-held
different standardized instruments. The tests belief that conductive hearing loss associated
sample various aspects of speech and/or lan- with middle ear infection (otitis media) can have
guage performance. The SLP will make the long-term consequences for typically develop-
choice of testing instruments based upon the ing children has been disproved (Zumach, Ger-
testing focus. rits, Chenault, & Anteunis, 2010).
Table 20.2. Frequently used measures of speech and language skills

Test Ages Description
Bankson-Bernthal Test of Phonology 2–16 years Identifies error patterns according to distinctive
(BBTOP; Bankson & Bernthal, 1990) features and phonological processes
Peabody Picture Vocabulary Test— 2½–adult Tests receptive vocabulary
4th Edition (PPVT-4, Dunn & Dunn,
2007).
MacArthur-Bates Communicative 8–37 months Develops a profile of communicative behaviors in
Development Inventories (CDIs), words and gestures (CDI: Words and Gestures,
Second Edition (Fenson et al., 8–18 months); Spanish version available
2007) Develops a profile of communicative behaviors in
words and sentences (CDI: Words and Sentences,
16–30 months); Spanish version available
Measures expressive vocabulary and grammar (CDI-
III, 30–37 months)
Expressive One-Word Picture 2–15 years Tests expressive vocabulary
Vocabulary Test–2000 Edition
(EOWPVT-2000; Brownell, 2000)
Goldman-Fristoe Test of Articula- 2–16 years Assesses articulation of consonant sounds
tion–2 (GFTA-2; Goldman &
Fristoe, 2000)
The Rossetti Infant-Toddler Language Birth to 36 Develops a profile of communicative behaviors in six
Scale (Rossetti, 2006). months areas: interaction-attachment, pragmatics, gesture,
play, language comprehension, and language
expression
Clinical Evaluation of Language Fun- 6–21 years Has multiple subtests of expressive and receptive
damentals, 4th Edition. (CELF-4, language, tapping grammar semantics, phonology,
Semel, Wiig, & Secord, 2003). sentence recall, and paragraph comprehension;
Spanish version available
Clinical Evaluation of Language 3–6 years Contains multiple subtests of receptive language,
Fundamentals—Preschool-2 tapping semantics, morphology, syntax, and
(CELF-Preschool 2; Wiig, Secord, & expressive language and assesses phonology,
Semel, 2004). sentence recall, and auditory memory
Preschool language Scales, 5th Edi- Birth to 6 Has subscales on auditory comprehension and
tion. (PLS-5; Zimmerman, Steiner, & years expressive communication; Spanish version avail-
Pond, 2011) able
Regardless of the etiology of a language accurately developed linguistic elements of lan-

disorder, the manner and extent to which language but make errors in pragmatics, such as
guage development is affected varies from child turn-taking and topic-sharing during conver-
to child. Ultimately, there is an effect on how sation. Some children experience problems in
the child is able to listen to talking within the more than one area of language development.
environment, analyze it, associate it with a mul-
titude of experiences, and use his or her commu-
Fluency Disorders
nication system to respond and/or imitate. As
examples, the child may 1) be slow to remember As children develop speech and language, they
the specific names of objects, 2) not understand also develop the skill to produce the words in a
or use functional words (e.g., the, am, to), 3) not smooth, flowing, and effortless manner. They
understand the implication of word endings are able to produce a series of words without
(e.g., -ing, -ed, -s), and 4) be delayed in being hesitation, repetition, or sound prolongation.
able to produce multiword sentences. Children They pause at the conceptually appropriate
with autism spectrum disorder may be able to time and continue talking without any evidence
produce words that are imitated (echolalia) of a struggle to resume producing words. These
but may have difficulty spontaneously generat- children have achieved fluency.
ing words to meet their communicative needs. Some children (usually between ages 2–4
Children with Asperger’s Disorder may have years) experience a type of developmental
340 Stuart
disfluency. This is characterized by hesitations, with the primary caregiver and, when possible,
repetitions of a sound (b-b-but), or repetitions other team members, the general impressions
of syllables or words (but but but) and/or fill- from the assessment. During these discussions,
ers (um, well, uh). This speech behavior often the SLP will delineate the factors correlated
appears during a period of rapid progress in with outcome from a communication disorder,
language acquisition and is not considered to including early identification and specific causes
be a real communication disorder. and severity of the communication impairment
A small percentage of children demon- (Bashir & Scavuzzo, 1992).
strate greater degrees of disfluency (both in fre- In addition, it is understood that the “who,
quency of occurrence and types of disfluencies). how, and where” of intervention is very impor-
For example, they produce more part word rep- tant in achieving a good outcome. Building an
etitions than expected in typical child speech, intervention program that is carried out col-
and more than 10 repeated words, syllables, or laboratively with individuals who regularly
sounds per hundred words (Bloodstein & Ber- interact with the child (parents, extended fam-
nstein Ratner, 2007). Very importantly, as the ily, preschool staff), and consideration of places
child continues to experience disfluencies, he and activities in which the child is regularly
or she becomes increasingly aware of them and involved is essential to success. Therapy in
expresses frustration. These are the symptoms natural settings involving collaboration with
of stuttering. caregivers achieves at least three major ben-
Genetic studies have found that a suscepti- efits for the child: 1) enhanced relationships
bility to stuttering may be inherited and that it among family members, therapists, educational
is most likely to occur in boys (Kang et al., 2010; staff, and parents; 2) modeling and support to
Yairi & Ambrose, 2005). Congenital brain dam- facilitate caregivers in their work in addressing
age is also suspected to be a predisposing factor the child’s problems; and 3) improved ability to
in some cases. For the most part, however, chil- assess a child’s functioning and set appropriate,
dren who stutter have neither a family history meaningful outcome goals (Bowen & Cupples,
of the disorder nor clear evidence of brain dam- 2004; Hanft & Pikington, 2000). Therefore, the
age. Brain imaging studies in adults who stut- ideal approach for designing therapy involves
ter show deactivation of the left-hemisphere creating a team approach that incorporates all
sensorimotor centers and overactivation of the the specialized knowledge about the child, the
identical right-hemisphere structures during child’s culture, and input from the key members
both stuttered and nonstuttered speech. The of the child’s environment.
essential defect is hypothesized to be a lack of Observing and recognizing opportunities
sensorimotor integration necessary to regulate for the child to use communication to partici-
the rapid movements of fluent speech (Ingham, pate in the activities and routines that occur
2003). within his or her environments will be critical
By age 7 more than half of all children who to the intervention plan. The therapist’s chal-
stutter as preschoolers are reported to have lenge will be to find creative ways to translate
recovered (Bloodstein & Bernstein Ratner, expertise and knowledge into meaningful inter-
2007). Therapy (fluency shaping and stuttering ventions to support the child in learning while
modification) can be helpful for those children participating. This will mean that the speech-
who continue to have difficulties producing flu- language intervention includes targeting words
ent speech. for modeling and imitation within joint atten-
tion activities and reinforcing all types of vocal-
ization and word approximations as well as
TREATMENT APPROACHES
compensatory therapy approaches.
A treatment plan and its supporting interven- In a compensatory approach, strategies
tion techniques should be 1) based on findings and supports are designed for children to bypass
during the assessment, 2) related to the most their communicative limitations. Because the
appropriate research (evidence-based practice), goal for every child is functional communica-
and 3) designed to meet the individual’s needs tion that supports him or her in participating
(American Speech-Language-Hearing Asso- in all the activities of life, the compensatory
ciation [ASHA], 2007). It requires discussions approach may include signing, low-tech sym-
with the family, observation of interactive and bols, and speech-generating devices of various
play skills, and an ongoing collection of speech- levels of complexity.
language samples. Best practice also requires Parents often fear that the introduction of a
the SLP to spend considerable time discussing compensatory approach will foster dependence
on an artificial means of communication and It is important that the AAC system be

further delay verbal development. The oppo- designed through collaboration with all the
site has been found to be the case (Light & individuals who will interact with the child
Drager, 2007). Even when it seems likely that (caregivers, educators, professionals, and
oral speech may eventually develop, augmenta- friends). However, the AAC system designer
tive and alternative communication (AAC) is should take the lead in customizing the device to
often used to prevent delayed communication make certain it supports many communication
development and to support communicative functions, such as questions, jokes, commen-
participation in daily activities. tary, and requests (Romski, Sevcik, Cheslock, &
AAC includes sign language, picture com- Barton, 2006).
munication boards, object symbols, adapted It should be noted that there are no pre-
books, and low-tech or high-tech speech- requisites (cognitive milestones, receptive lan-
generating devices (see Chapter 36). Parents, guage strengths, demonstrable communicative
preschool teachers, siblings, and friends all intent, or yes/no consistency) that must be met
need to learn ways to use the specific custom- before the individual becomes a “candidate” for
ized AAC items when interacting with the child an AAC system. Also, children are never too
whose verbal speech is not adequate to his or young or have too severe disabilities or motor
her communicative needs. Each of these AAC impariments to utilize AAC (National Joint
approaches should be used within the naturally Committee for the Communication Needs of
occurring routines of a child’s daily activities. Persons with Severe Disabilities [NJC], 2003).
The specific signs, pictures on a board, object
symbols and messages in a speech-generating
device are chosen on the basis of what the
SUMMARY
child’s needs are within activities. The ability to communicate provides a primary
Sign language (e.g., American Sign Lan- means of participating in our lives and the lives
guage [ASL]), which is used with deaf indi- of others. Therefore, disorders of communica-
viduals, can also provide a visual and tactile tion have a profound impact on the very essence
representation of spoken words that serves as of our being. Children who are not talking as
a “ready” vocabulary for the child with limited early or in a manner expected by their caregivers
verbal output due to a language disorder. The should receive a speech-language and hearing
signs often include the names for favorite toys, assessment as soon as possible. The results of
activities, people, as well as phrases to control this evaluation will enable the SLP to design an
actions. For example, “want,” “more,” “please,” intervention that is evidence based. This treat-
and “thank you” have many applications over ment program will incorporate an understand-
the course of a day. Most parents and teachers ing of the child as an individual and include his
are encouraged to choose 20 or 30 signs that or her caregivers and other important people
are relevant to their child and social situations. from his or her environment as team members
If the child is unable to make the signs perfectly, in the process.
approximations are accepted. The goal is for
the child to have an easy, consistent means of
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21 Autism
Spectrum Disorders
Susan L. Hyman and Susan E. Levy

■ Be familiar with the core features of autism spectrum disorders
■ Know about the different studies seeking an etiology for autism spectrum
disorders
■ Be able to identify the conditions associated with autism spectrum disorders
■ Be familiar with interventions and outcomes
Autism spectrum disorders (ASDs) are a class of rather than PDDs. Furthermore, DSM-5 will
neurodevelopmental disorders characterized by no longer use the previously mentioned five
impairments in social reciprocity, atypical com- diagnostic subcategories (Happé, 2011); it will
munication, and repetitive behaviors. The term instead include a description of severity level
autism spectrum indicates that the disorders in of the ASD. This change has been proposed
this category occur along a continuum. As of because distinctions among the subtypes of
January 2012, the classification system for ASDs ASDs in the past have been inconsistent (Lord
is in flux. The Diagnostic and Statistical Manual et al., 2011). In this chapter, the term ASD will
of Mental Disorders, Fourth Edition, Text Revision be used, except when research studies cited
(DSM-IV-TR; American Psychiatric Associa- have included solely individuals with the more
tion, 2000) uses the term Pervasive Developmen- severe category. In these cases the term Autis-
tal Disorders (PDDs) rather than ASDs because tic Disorder will be specifically used because the
symptoms pervade all areas of development. findings might be different for people with dif-
Included in the DSM-IV-TR classification of ferent severities of ASDs.
PDDs are five specific diagnoses: Autistic Dis- Although the classification system may be
order, Asperger’s Disorder, Rett’s Disorder, changing, there is general agreement that the
childhood disintegrative disorder (CDD), and symptoms of ASDs are neurologically based,
pervasive developmental disorder not otherwise that the disorder has a genetic predisposition,
specified (PDD-NOS). In contrast, the new and that gene–environment interaction plays a
edition of the Diagnostic and Statistical Manual, role (Levy, Mandell, & Schultz, 2009; Muhle,
DSM-5, to be published in 2013, will label this Trentacoste, & Rapin, 2004). It is also recog-
group of disorders as autism spectrum disorders nized that ASDs can occur in conjunction with
345
346 Hyman and Levy
1) other functionally defined diagnoses such as (e.g., risperidone) to assist in managing his
intellectual disability and learning disabilities; disruptive and aggressive behaviors, thereby
2) genetic syndromes such as Rett, Prader Willi, enabling him to benefit most from the behav-
and Williams syndrome; 3) biologically based ioral treatment.
behaviors, such as tics; and 4) medical condi-
tions including epilepsy (Levy et al., 2010). As
noted, DSM-5 will address these dimensions by DIAGNOSTIC CATEGORIES
characterizing the heterogeneity of the autism WITHIN THE AUTISM SPECTRUM
spectrum disorders rather then continuing to
ASDs are defined by the presence or absence of
divide them into subgroups of Autistic Disor-
behaviors in three areas: social reciprocity, com-
der, Asperger’s Disorder, and PDD-NOS.
munication, and repetitive behaviors (American
■ ■ ■ JAMES Psychiatric Association, 2000). The number
and distribution of symptoms, the pattern of
James is a 10-year-old boy with behavior dif- early language development, cognitive abilities,
ficulties that interfere with his progress. His and the presence of regression all are used to
mother reports that he is passive and avoidant make a specific diagnosis within this category
at school and becomes agitated, aggressive, of disorders. The terms Autistic Disorder, PDD-
and noncompliant at home with her. James is
NOS and Asperger’s Disorder are proposed to
disappear in DSM-5 within the new ASD clas-
in an autistic support class in third grade. His
sification system. The other two disorders that
teacher reports that he has a variety of avoidant are listed as PDDs in DSM-IV-TR, Rett’s Dis-
and/or self-stimulatory behaviors that are inter- order and Childhood Disintegrative Disorder,
fering with his progress in school. His avoidant will no longer be part of the ASD classification
behaviors are characterized by withdrawal (e.g., system. Rett syndrome is now known to be one
he shuts his eyes and does not respond to direc- of a number of genetic syndromes that have a
tions; he becomes difficult to engage or “flat”). high risk for manifesting symptoms of ASD (see
His self-stimulatory behaviors include self-talk text that follows). Regarding childhood disin-
or jargoning and rubbing his eyes; he also tegrative disorder, it is not clear if this is a dis-
seems to be sensitive to loud sounds. At home crete entity or rather a term that has been used
he has outbursts/meltdowns several times a
as a placeholder for individuals with a neuro-
degenerative disorder with autistic features for
day, and his mother is often the target. He will
which a specific genetic diagnosis has not yet
obsess/perseverate on parts of toys and will been made. In the following paragraphs we will
need to (obsessively) hold on to the toy every- describe Autistic Disorder (ASD), PDD-NOS,
where. His neurodevelopmental pediatrician and Asperger’s Disorder.
saw him in follow-up and reports that he is in
good health and has a normal general examina- Autistic Disorder
tion. No specific etiology has been determined Autism (or Autistic Disorder, per the DSM-
for his autism. His doctor recommended that he IV-TR) is defined by a pattern of at least six
continue autistic support class placement, full symptoms distributed across three domains
time. She recommended that behavioral inter- (Table 21.1). At least two symptoms must be in
vention strategies continue to be included into the area of social reciprocity. Dr. Leo Kanner
his curriculum to work on enhancing compliance first described the syndrome of autism (derived
and increasing engagement. She also proposed from the Greek word for self-absorption; Kan-
that he continue to receive speech-language ner, 1943). He observed a series of individuals
therapy, occupational therapy, and physical in his practice of child psychiatry that had social
aloofness and a desire for “preservation of same-
therapy weekly in school. In addition, his physi-
ness.” Although Kanner believed autism was an
cian suggested that he have a functional behav-
organic condition, throughout the 1950s most
ior analysis performed in order to develop and psychiatrists considered autism to be caused by
implement an appropriate behavioral treatment poor parenting. Some thought it was a form
protocol focused on enhancing his engagement of childhood schizophrenia. With improved
and compliance. Finally, his doctor discussed behavior characterization, it became clear that
options for a trial of an atypical antipsychotic the ASDs were discrete from schizophrenia and
Autism Spectrum Disorders 347
Table 21.1. Diagnostic criteria for Autistic Disorder

A. A total of six (or more) items from the following groups:
Group 1a Group 2b Group 3c
1. Marked impairment in the use 1. Delay in, or total lack of, the 1. Encompassing preoccupation
of multiple nonverbal behav- development of spoken lan- with one or more stereo-
iors such as eye-to-eye gaze, guage (not accompanied by typed and restricted patterns
facial expression, body pos- an attempt to compensate of interest that is abnormal
tures, and gestures to regulate through alternative modes either in intensity or focus
social interaction of communication such as 2. Apparently inflexible adher-
2. Failure to develop peer re- gesture or mime) ence to specific, nonfunc-
lationships appropriate to 2. In individuals with adequate tional routines or rituals
developmental level speech, marked impairment in 3. Stereotyped and repetitive
3. A lack of spontaneous seeking the ability to initiate or sustain motor mannerisms (e.g., hand
to share enjoyment, interests, a conversation with others or finger flapping or twisting,
or achievements with other 3. Stereotyped and repetitive complex whole-body move-
people (e.g., by a lack of show- use of language or idiosyn- ments)
ing, bringing, or pointing out cratic language 4. Persistent preoccupation with
objects of interest) 4. Lack of varied, spontaneous parts of objects
4. Lack of social or emotional make-believe play or social
reciprocity imitative play appropriate to
developmental level
B. Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years:
1. Social interaction
2. Language as used in social communication
3. Symbolic or imaginative play
C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.
Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision
(Copyright ©2000). American Psychiatric Association.
aQualitative impairments in social interaction, as manifested by at least two criteria from Group 1.
bQualitative impairments in communication, as manifested by at least one criterion from Group 2.
cRestricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least one criterion
from Group 3.
occurred along a gradient. Progressive modifi- Asperger’s Disorder

cation of the DSM (American Psychiatric Asso- Dr. Hans Asperger was a contemporary of Dr.
ciation, 2000) has altered diagnostic criteria so Kanner (Asperger, 1991). Asperger observed
that younger children and children with the full children with apparently typical language who
range of cognitive abilities (typical or impaired) had difficulties with socialization, could not
can be identified as having an ASD. conform to social demands, and had repeti-
tive behaviors. The DSM-IV-TR indicates that
Pervasive Developmental Asperger’s Disorder can be diagnosed if three
Disorder Not Otherwise Specified symptoms—two related to social reciprocity and
The diagnosis of PDD-NOS is used to describe one to habitual behaviors—are present. Early
children who do not have the prerequisite num- language development must be grossly within
ber or distribution of symptoms for another typical limits, but pragmatic language impair-
diagnosis within the ASDs or have atypical ments are common. Adaptive behaviors may be
presentation with functional impairments in delayed. There is considerable overlap between
the relevant areas. There is no minimum num- the diagnosis of high-functioning autism (Autis-
ber of symptoms necessary to diagnose PDD- tic Disorder in someone with typical intelli-
NOS, but there must be social impairment. gence) and Asperger’s Disorder (Szatmari et al.,
This results in significant heterogeneity among 2000). This is one of the factors leading to the
individuals given this clinical diagnosis. The change in the classification system of ASD in
comorbidity of cognitive, language, and behav- DSM-5. Children with Asperger’s Disorder are
ioral symptoms with PDD-NOS may result in often not diagnosed until school age, when the
significant functional impairment, even though social demands of the classroom make the symp-
fewer symptoms of autism may be present. toms functionally apparent.
348 Hyman and Levy
DIAGNOSTIC FEATURES OF or situations (e.g., family members or favored

AUTISM SPECTRUM DISORDERS television programs/movies). Patterns of relat-
ing to other people, however, tend to be atypi-
There is significant heterogeneity among indi- cal. They may have diminished eye contact,
viduals with ASDs, but they all share three core decreased use of facial expression, and exagger-
domains of symptoms that are discussed next: ated or absent gestures.
qualitative impairments in social reciproc- In terms of the underlying neurological
ity, atypical communication development, and impairments in ASD, there is evidence that mir-
atypical behavior. ror neurons in the brain, which permit imitation
of what an individual sees, may be functionally
Qualitative Impairments atypical. This may affect facial imitation and use
in Social Reciprocity of expression as well as other motor imitation
(Oberman & Ramachandran, 2007).
Impairments in social reciprocity, critical to
the diagnosis of an ASD, reflect an intrinsic
Atypical
inability to read and comprehend the feelings,
experiences, and motives of others. Typical Communication Development
social reciprocity skills allow the interpreta- Difficulty with communication is present to
tion of verbal and nonverbal messages of oth- varying degrees in most individuals with ASDs
ers, including nuanced facial expression, vocal (Rapin & Dunn, 2003). Atypical language
inflection, gestures, social intention, and emo- development may relate to comorbid intellec-
tional tone. Because of impaired social reci- tual disability or exist in isolation. Language
procity skills, children with ASDs often have delay is usually the first area of concern identi-
difficulties interacting with peers (Travis, Sig- fied by most families whose children are later
man, & Ruskin, 2001). The prototypical exam- diagnosed with ASDs. Typical early language
ple of social reciprocity is eye contact; infants is often reported, including the emergence of
with typical development learn that eye contact single words. When early milestones are scruti-
with an adult leads to attention. In addition, the nized, however, it becomes apparent that many
ability to share a common point of reference, children with ASDs have had atypical devel-
called joint attention, starts to develop around 6 opment in receptive and expressive language
months of age and facilitates social interaction from infancy (Mars, Mauk, & Dowrick, 1998;
and sharing (Mundy & Newell, 2007). Mitchell et al., 2006). Although language delay
In addition to maintaining a connection from infancy is the most common presentation,
through eye contact and vocalization, social in about 25%–30% of children with ASD early
reciprocity involves understanding that other language development is typical but is subse-
people have a different point of view, referred quently lost between 18 and 24 months (Parr et
to as Theory of Mind. Individuals with ASD do al., 2011; Rogers, 2004).
not possess Theory of Mind. This basic impair- Early language of children with ASDs is
ment interferes with their capacity to under- often characterized by 1) imperative labeling
stand social language and the intent of others (using words for naming instead of communi-
(Rogers, 1998). cating), 2) echolalia (echoing speech), 3) atypi-
People without ASDs generally look at cal prosody (inflection), and 4) improper use of
the eyes of a person to whom they are speak- pronouns (referring to self in the third person).
ing, whereas most people with ASDs look at It should be noted that echoing adult words is
the person’s mouth (Klin, Jones, Schultz, Volk- common in typical development, as toddlers gain
mar, & Cohen, 2002). When people with ASD vocabulary and learn to process what is said to
have eye gaze, it tends to be intense and with- them. Echolalia, however, is usually gone before
out the social awareness of when to look away. 2 years of age, whereas in children with ASDs
Symptoms related to atypical social reciprocity it may persist in a perseverative (uncontrollable
are also closely tied to quality and atypicality repetitious) fashion into childhood and beyond.
of language function. In addition, people with It is speculated that the child with ASD may use
ASDs may have difficulty in integrating verbal perseverative language to provide structure and
and nonverbal components of communication. a known outcome in a social situation that the
Although individuals with ASDs have vary- child does not understand. Once functional lan-
ing degrees of difficulty in initiating, respond- guage is established, prosody (the use of pitch,
ing to, and maintaining social interactions, they loudness, tempo, and rhythm in speech) may be
may be highly responsive to specific individuals singsong, robotic, or imitative of the inflection
used by the original speaker (e.g., imitating an movements such as pacing, spinning, running
announcer on TV). Young children with ASDs in circles, drumming, flipping light switches,
also may have difficulty using pronouns (i.e., rocking, hand waving, arm flapping, and toe
saying “I want this” versus “Julie wants this”) walking are common. Self-injurious behavior,
because they may not see how words need to be including biting and head banging, may also
rearranged to have meaning to another person occur. Unusual responses to sensory input are
(Rapin & Dunn, 2003). commonly reported. These include insensitiv-
In addition to speech, communication ity to pain or heat and overreaction to environ-
requires a synthesis of many behaviors that mental noises, touch, or odors. For example,
are nonverbal. Children with ASDs may have although the child may appear “deaf” to the
a basic impairment in many of these nonverbal language of others, he or she may be alert to or
behaviors such as the ability to both perceive respond to sounds, or alternatively may cover
and imitate facial expression (Dawson, Webb, his or her ears and scream because of hyperacu-
& McPartland, 2005). Studies have shown that sis (unusual sensitivity to certain sounds, such as
the brains of people with Autistic Disorder pro- a vacuum cleaner).
cess faces as if they were objects. As a result, The core symptoms of ASD vary with age
every time the facial expression of the commu- and ability. For example, some people with
nication partner is changed, the person with an autism may have a total absence of language
ASD must reidentify the face (Schultz, 2005). and communicative intent, whereas those with
People with ASD may also have a decreased Asperger’s Disorder may engage in “professo-
ability to simultaneously process speech and rial” speech with little conversational regard for
gesture that influences both social processing the interest of the listener. Challenges include
and pragmatic language (Silverman, Bennetto, development of more precise ways to elicit and
Campana, & Tanenhaus, 2010) . quantify the core symptoms of ASD for early
Receptive language problems may also and accurate diagnosis. It is anticipated that
affect communication. Learning may be more additional guidance will be provided for the
efficient with visual, rather than auditory cues. evaluator using DSM-5 criteria.
Unusual eye contact, body posture, gestures, and
other nonverbal aspects of communication may
have an impact on communication. Without
CAUSES OF AUTISM
specific intervention, nonverbal communication SPECTRUM DISORDERS
impairments may be problematic even with the
ASDs have multiple etiologies. The weight of
development of conversational language.
evidence now points to a genetic predisposition
Atypical Behavior with environmental interactions.
Although the differences in social “give and
take” may be central to the diagnosis of ASDs,
The Genetics of Autism
repetitive, perseverative, and stereotyped The evidence for a genetic etiology for ASDs
behaviors are often the most visible symp- comes from both family and twin studies. The
toms. Strict adherence to routines is common recurrence risk for an ASD in subsequent sib-
among people with ASDs. This can extend to lings of a child with ASD has been quoted to
food selectivity, rituals related to daily rou- be 2%–8% (O’Roak & State, 2008). Data pub-
tines, and/or obsessions. Young children with lished in 2011, however, suggests it may be as
ASDs may have attachments to unusual items, high as 18% (Ozonoff et al., 2011) . This is ten-
such as string, rather than to soft or cuddly fold higher than what would be expected in the
toys. Children with ASDs may not use toys in general population. Recent analysis of 192 twin
their intended manner but may focus instead pairs with ASD in California reported concor-
on a part of a toy—for example, the wheels on dance (i.e., both twins have ASD) of 77% for
a toy truck, which they may spin repetitively. identical male twins and 31% for fraternal male
They may line things up, stare out of the cor- twins. This data supports a genetic predisposi-
ners of their eyes, or minutely inspect aspects tion to autism but also points to a greater influ-
of objects. In addition, pretend play may not ence of the intrauterine environment on the
develop spontaneously, and once taught, it may development of autism than had been previously
take on a rote quality. appreciated (Hallmayer et al., 2011). Genetic
Interruption of a ritual or preoccupa- research has followed three strategies: family
tion may upset a child with an ASD and lead studies, candidate gene studies, and association
to distress or a temper tantrum. Stereotyped with genetic disorders of known etiology.
350 Hyman and Levy
Family Studies normal growth rates by school age. The reason

In family studies, also called linkage analysis, for this is not yet known. Magnetic resonance
patterns of genes or specific DNA markers in imaging (MRI) studies of children with ASDs
family members with and without Autistic Dis- note a greater volume of white matter in cor-
order or another ASD are investigated. This tex and cerebellum in early childhood. Genetic
strategy has identified genes that may be related regulation of synaptic development and con-
to ASDs on multiple chromosomes, including nections may be associated with this observa-
2, 7, and 15 (O’Roak & State, 2008). tion. The various MRI studies of brain anatomy
do not consistently identify the same structural
Candidate Genes Studies asymmetries or size differences. Improvements
in imaging, such as diffusion tensor imaging
Identification of a trait of interest allows spe-
(which images specific white matter tracts)
cific investigation of associated genes in families
should advance our understanding of brain
with individuals with ASDs. A number of genes
structure and function.
of interest relate to early brain development
Specialized neuroimaging studies such as
(Muhle et al., 2004). The interaction of genes
functional MRI and spectroscopy can indirectly
and environmental events in early pregnancy is
examine neurotransmitter activity and energy
an area of active study. Candidate genes related
utilization in selected areas of the brain. Most
to neurotransmitter generation and recep-
studies published as of 2011 have involved ado-
tor function are of great interest because they
lescents and adults with Asperger’s Disorder.
may be a target for drug development (Scott
One finding is that there is an impairment in
& Deneris, 2005). In addition, genes respon-
Theory of Mind tasks requiring the network-
sible for early brain development have research
ing of the medial prefrontal cortex, temporopa-
implications for examining the “connectivity”
rietal junction, and temporal poles with other
of areas of the brain that underlies both pro-
brain regions (Vollm et al., 2006). Adolescents
cessing and etiology in people with ASD (Jones
with Asperger’s Disorder and high-functioning
et al., 2010; Minshew & Williams, 2007).
autism demonstrate impairments in process-
Association with Genetic ing faces in the fusiform gyrus (Schultz, 2005)
Disorders of Known Etiology and in processing the eye gaze of others in the
superior temporal sulcus (Pelphrey, Morris,
ASDs tend to be associated with other genetic McCarthy, 2005). In addition, imitation may be
disorders that have known etiologies. It is under- impaired because mirror neurons do not com-
stood that brain functioning in certain genetic municate properly (Williams, Waiter, et al.,
disorders including Rett syndrome, Angelman 2005). A related technology, magnetoencepha-
syndrome, Prader-Willi syndrome, tuberous lography (MEG), has demonstrated delays in
sclerosis, and fragile X syndrome places indi- processing auditory information in people with
viduals at a greater risk for having ASDs (see ASD (Roberts et al., 2010).
Chapter 1 and Appendix B). It is intriguing that Histological (anatomical study of the cel-
most of these disorders involve epigenetics lular structure of the brain) findings to date
(changes in gene expression caused by mecha- suggest that prenatal events alter cell number
nisms other than changes in the underlying and density in the cerebellum and limbic system
DNA sequence; see Chapter 1). This knowl- in ASD, but few studies have been published to
edge allows for investigation of the relationship confirm this. Atypical development of the brain
among known biologic impairments and behav- stem nuclei and the inferior olive, as well as
iors symptomatic of ASD. heterotopias (abnormally placed neurons) have
been reported in isolated cases (Bailey et al.,
Brain Structure and Function 1998). Modern techniques have identified addi-
in Autism Spectrum Disorders tional pathological changes in some individu-
Neuroimaging techniques are used to study als’ brains, including atypical inflammation and
brain development and function (see Chapter disordered cellular organization in the cortex
12). Although head circumference is normal (Casanova, 2006; Vargas, Nascimbene, Kris-
at birth, about 60% of boys with ASDs have han, Zimmerman, & Pardo, 2005).
macrocephaly (large heads), with accelerated
head circumference growth noted beginning Obstetric Complications
between 4 and 12 months of age (Elder, Daw- Epidemiologic studies have not strongly associ-
son, Toth, Fein, & Munson, 2008) followed by ated any specific prenatal or birth complication
with the development of ASDs. Obstetric opti- with more rigorous methodology that includes
mality scores that reflect the overall health of actual air sampling (Palmer, Blanchard, Stein,
the pregnancy, delivery, and newborn period, Mandell, & Miller, 2006). Additional environ-
however, are lower in children with ASDs mental agents studied include PCBs, television
(Zwaigenbaum et al., 2002). The prenatal exposure, and floor tiles (Landrigan, 2010).
events that predispose a child to develop an Although existing data do not implicate specific
ASD may compromise fetal well-being in chemical agents, it is possible that substances to
subtle and inconsistent ways. An increased risk which mothers and newborns are exposed may
for ASD has been reported among premature affect brain development in a way that leads to
infants (Limperopoulos, 2009; Schendel & ASDs in susceptible individuals. This needs to
Bhasin, 2008). An increased risk has also been be further explored.
reported to be present in women who become
pregnant within 12 months of having a first Vaccinations
child (Cheslack-Postava et al., 2011). Since the initial allegation of an association of
the measles, mumps, and rubella (MMR) vac-
Environmental Exposures cine with developmental regression and ASDs,
It may be that environmental factors interact a large body of evidence has been published
with genes to cause the symptoms of ASDs. To that has refuted the connection. The journal
date, however, the only established environ- that published the article retracted the publi-
mental risk factors for ASDs are a few medication because of improper scientific practices
cations (discussed in the next section) that a (Retraction, 2010). Population-based studies,
mother might have been prescribed early in in fact, do not demonstrate an increase in the
pregnancy (Landrigan, 2010). We describe rate of diagnosis of ASDs with the introduc-
below evidence for associations of teratogens, tion of MMR (Demicheli, Jefferson, Rivetti, &
vaccines, and infections with ASDs. Price, 2005). Madsen et al. (2002) compared the
rate of ASDs in more than 400,000 children in
Teratogens Denmark who received the MMR vaccine with
Substances that result in an increased risk of about 100,000 children who did not get the
birth defects in the developing fetus are termed vaccine. There was no difference in the rate of
teratogens. These include maternal medications, ASDs. Despite this evidence against a connec-
drugs of abuse, chemicals, and radiation. As tion between vaccination and ASD, there con-
one example, thalidomide, a drug that was tinues to be a decreased rate of immunization
used to treat nausea in pregnant women in the by parents concerned about a possible associa-
early 1960s, was associated with limb deformi- tion (Leask, Booy, & McIntyre, 2010). Fami-
ties in exposed fetuses. Many years later, oph- lies should be reassured that the immunization
thalmologists studying the impairments of eye schedule advocated by the American Academy
movement in adults who were exposed to tha- of Pediatrics is not associated with the develop-
lidomide in utero found that these individuals ment of autism.
had a very high prevalence of ASDs (Strom- A second hypothesis relates the ethylmer-
land, Nordin, Miller, et al., 1994). In addition, cury-based preservative thimerosal (used as a
increased rates of ASDs have been reported in preservative in pediatric vaccines prior to 2001)
children who were exposed during early preg- to symptoms of ASD in genetically susceptible
nancy to valproic acid (an antiepileptic drug) children (Bernard, Enayati, Redwood, Roger,
and mesoprostol (used to induce early termina- & Binstock, 2001). Yet, the rate of diagnosis of
tion of pregnancy; Landrigan, 2010). ASDs actually increased after removal of thi-
No known environmental or chemical merosal from vaccines in Denmark (Madsen,
exposure has been associated with an increased Lauritsen, Pedersen, et al., 2003), although this
risk for ASDs to date (see Chapter 3). For exam- could be attributed to the broadened diagnos-
ple, an epidemiologic study that compared the tic criteria and increased awareness of ASDs in
rates of ASD in Brick Township, New Jersey (a families and providers. The neurologic symp-
site of the Superfund cleanup of toxic waste) toms that are known to be associated with spe-
to other communities in New Jersey did not cific types of mercury toxicity depend on the
identify an increased risk in that locale (Ber- type of mercury and age at and length of expo-
trand et al., 2001). Recent reports of increased sure. Both the neurologic symptoms of ASDs
airborne mercury in locations with higher rates and acute, chronic, and prenatal mercury toxic-
of children with ASDs require further study ity affect sensory functions, motor abilities, and
352 Hyman and Levy
learning, but the specific symptoms of mercury (Centers for Disease Control and Prevention,
toxicity are not the same as autism (Nelson & 2009; Fombonne, 2003). The observed male-
Bauman, 2003). In addition, methylmercury, to-female ratio increases as IQ scores increase,
the type of mercury ingested in fish and marine ranging from close to 1:1 for children with
mammals, has not been found to be associated IQ scores lower than 50 (Fombonne, 1999;
with autism in populations with high prenatal Yeargin-Allsopp et al., 2003) to about 6:1 for
and postnatal exposure (Myers et al., 2003; Ng, children with high-functioning autism (Fom-
Chan, Soo, & Lee, 2007). bonne, 2003). Fetal testosterone exposure has
In sum, no study provides scientific evi- been raised as one possible explanation for the
dence of a causal relationship of thimerosal increased number of affected boys with ASD
containing vaccines or methylmercury and (Auyeung et al., 2009). There is no scientific
ASDs. In addition, vaccines administered to evidence to date to support that medically alter-
children in the United States, other than some ing the onset of puberty (thereby delaying the
influenza vaccines, are typically thimerosal free. increased production of testosterone) provides
Despite these factors, chelation therapy to bind cognitive or behavior benefit to boys with ASD
and excrete heavy metals including mercury (Geier & Geier, 2006).
is pursued as a clinical intervention by some
families of children with ASDs. There is no
evidence that chelation therapy is of value, and EPIDEMIOLOGY OF
the safety of this practice is unclear (Levy & AUTISM SPECTRUM DISORDERS
Hyman, 2005).
There continues to be debate about the preva-
Infections lence of ASDs and the reasons for the recently
reported marked increase. Since 2009, studies
Prenatal infection with rubella increases the risk
have reported the prevalence of ASDs as approx-
for cerebral palsy, intellectual disability, visual
imately 1 in 110 children (Centers for Disease
impairments, and ASDs, depending on the tim-
Control and Prevention, 2009; Kogan et al.,
ing of the infection (Chess, 1971). Fortunately
2009). Prevalence rates have varied in the past,
MMR vaccination-based immunity in women
but the reported rate in 2011 is tenfold what
has all but eliminated this cause of ASDs in the
was reported a generation ago. This may be due
United States. Other viruses and bacteria that
to differences in methodology of surveillance,
commonly infect pregnant women are not rou-
change in DSM criteria for ASDs, and changes
tinely associated with ASDs in the offspring,
in awareness and identification of children with
although rare cases of ASD have been reported
the disorder (Maenner & Durkin, 2010; Parner
in children with congenital cytomegalovirus
et al., 2011; Pinborough-Zimmerman, Bilder,
(CMV). A mother’s own immunologic response
Satterfield, Hossain, & McMahon, 2010; Posse-
to infections such as influenza, however, might
rud, Lundervold, Lie, & Gillberg, 2010). How-
cause subtle differences in brain development
ever, evidence is accumulating that some of this
that hypothetically could predispose a suscep-
change in prevalence represents a real increase in
tible fetus to an ASD (Croen, Grether, Yoshida,
the number of children with ASD.
Odouli, & Van de Water, 2005; Zimmerman et
Prevalence in racial/ethnic minorities also
al., 2007).
varies, with some studies reporting decreased
Another issue that has been raised is the
rates in African American children (Dyches,
possibility of infections in early childhood
Wilder, Sudweeks, Obiakor, & Algozzine, 2004;
being associated with ASDs. In fact, children
Sanua 1984), whereas other studies have not
who have severe neurologic injury after menin-
found a significant difference in rates among
gitis or encephalitis may develop symptoms of
races (Yeargin-Allsopp et al., 2003). It is pos-
ASDs. There is no evidence, however, to indi-
sible that the variations actually reflect health
cate that hypothetical overgrowth of intestinal
care disparities (Mandell et al., 2009). On aver-
yeasts or bacteria (Buie, Fuchs, et al., 2010) can
age, African American children are diagnosed
cause ASDs.
2 years later than Caucasian children (Man-
dell, Listerud, Levy, & Pinto-Martin, 2002;
Gender and Autism Mandell, Novak, & Zubritsky, 2005). Finally,
Spectrum Disorders advanced maternal and paternal ages have been
Autism affects more boys than girls, with gen- associated with increased risk for an ASD diag-
der ratios generally ranging from 2:1 to 5:1 nosis (Croen, Najar, Fireman, et al., 2007).
EARLY IDENTIFICATION OF developmental and behavior screening tests and

AUTISM SPECTRUM DISORDERS ongoing developmental surveillance by primary
care providers, however, is likely to be the best
By the DSM-IV-TR definition, the symptoms screening mechanism to identify children with
of an ASD must be present by 3 years of age. ASD. This approach identifies general delays
Yet, even when parents are concerned about and results in earlier referral for diagnostic and
their child’s early development, the diagnosis of treatment services. Because of the importance
an ASD may not be established for a few years of early diagnosis in leading to early interven-
(Howlin & Asgharian, 1999; Mandell et al., tion, there has been much interest in the accu-
2005). The age of diagnosis has decreased with rate screening and diagnosis at younger and
increased awareness by pediatricians, parents, younger ages. Table 21.2 contains more infor-
and preschool teachers. Children with Asperger’s mation about screening tools.
Disorder and high-functioning autism, how-
ever, tend to be diagnosed at school age. Evaluation of the Child with
Delayed language development, repetitive an Autism Spectrum Disorder
behaviors, and atypical social responsiveness
are common early parental concerns. System- Assessment for ASDs requires time, collabora-
atic review of videotapes from the first year of tion among health care and educational pro-
life demonstrates differences in infants with fessionals, and knowledge about development.
ASDs. A child with ASD may not respond to The evaluation follows directly from the diag-
his or her name and may be less interested in nostic criteria that focus on impairments in
faces and voices than other infants. Infants later social reciprocity, language, and restricted pat-
diagnosed with ASDs may have had poor eye terns of behavior (Filipek et al., 2000).
contact, absence of a social smile, irritability,
Multidisciplinary Assessment
and a dislike of being held. As toddlers, they
may have had sleep difficulties, limited diets, Most children are initially referred to school-
tantrums, and inattention to language. Because based assessment teams or early intervention
of limited response to the language of others, services by their primary care providers or by
initial concerns may have been around hearing their parents because of language delays (see
impairment. Chapter 30). Initial multidisciplinary evalua-
Early diagnosis is based on recognition of tion of developmental concerns should involve
core features of ASDs in early childhood. Atyp- formal assessments of 1) receptive and expres-
ical development of pretend play, pointing to sive language, 2) cognitive function, 3) hearing,
share interest, use of eye gaze to engage another 4) fine and gross motor function, 5) social and
person in communication, and social interest emotional skills, and 6) adaptive skills.
can distinguish toddlers at high risk for ASD If an ASD is suspected, referral should be
as young as 18 months of age. These observa- made to a professional who is experienced in
tions are the basis for the Checklist for Autism making the diagnosis, such as a neurodevelop-
in Toddlers (CHAT; Baron-Cohen et al., 2000) mental pediatrician, developmental-behavioral
and the Modified Checklist for Autism in Tod- pediatrician, child neurologist, child psychia-
dlers (M-CHAT; Pandey et al., 2008; Robins, trist, child psychologist, or speech-language
Fein, Barton, & Green, 2001). The M-CHAT is pathologist. The assessment should include a
a brief parent questionnaire suitable for screen- detailed medical history, with particular atten-
ing toddlers in a pediatrician’s office. Although tion paid to 1) social development; 2) devel-
sensitive to symptoms of ASD, it is not specific opmental milestones, especially in language;
unless the items endorsed by the family are 3) other medical conditions; 4) family history,
examined further by interview. The M-CHAT including behavioral, medical, neurologic,
authors have subsequently developed an inter- developmental, and psychiatric illnesses; and
view used to confirm the screening question- 5) current family functioning and circum-
naire (Pandey et al., 2008). stances. As noted previously, one quarter to one
Other tests that can be used to screen for third of children with Autistic Disorder have a
ASDs in toddlers include the screening tool for reported loss of language and/or social mile-
autism (STAT; Stone, Coonrod, Ousley, 2000; stones in the second year of life. An underly-
Stone, McMahon, & Henderson, 2008; ) and ing medical condition needs to be ruled out in
the Pervasive Developmental Disorder Screen- these cases, as 10% of children with ASDs are
ing Test–II (PDDST-II; Dumont-Mathieu reported to have medical conditions that might
& Fein, 2005). The routine use of general be etiologic (Chakrabarti & Fombonne, 2001).
354 Hyman and Levy
Table 21.2. Screening and diagnostic tests for Diagnostic Measures

autism spectrum disorders (ASDs)
As there are currently no specific biomarkers
Screening tests for ASDs in toddlers
for ASDs, the diagnosis relies on the history
Modified Checklist for Autism in Toddlers
(M-CHAT; Dumont-Mathew & Fein, 2005): ages and clinical observation. This requires input
18–36 months from parents, therapists, and teachers who are
Screening Tool for Autism in Two-Year-Olds (STAT; familiar with the child in multiple settings. A
Stone, Coonrod, Turner, & Pozdol, 2004.) structured history through the Autism Diag-
Pervasive Developmental Disorder Screening Test nostic Inventory (ADI-R; Lord et al., 1994) and
(PDDST II; Siegerl, 2004.) observation of symptoms through the Autism
Screening tests for older children Diagnostic Observation Schedule (ADOS;
Social Communication Questionnaire (SCQ; Rutter, Lord et al., 2000) are used to standardize clini-
Bailey, & Lord, 2003): older than 3 years of age cal and research application of diagnostic cri-
Social Responsiveness Scale (Constantino, 2005): teria. The ADI-R is a lengthy standardized
school age parental interview that is primarily used in
Standardized tests that support a clinical diagnosis research settings. The ADOS is a semistruc-
of autism tured examiner directed evaluation of social
Childhood Autism Rating Scale (CARS2; Schopler, interaction, communication, and imaginative
Van Bourgondien, Wellman, & Love, 2010): play (Lord et al., 2000). The ADOS may be
older than 2 years of age used in some clinical or educational settings to
Gilliam Autism Rating Scale, Second Edition support the clinical diagnosis of an ASD but
(GARS 2; Gilliam, 2006): older than age 3 requires extensive training for reliability if used
“Gold standard” companion measures designed to in research settings. Other questionnaires such
elicit symptoms of ASDs for diagnostic purposes as the Social Communication Questionnaire
Autism Diagnostic Interview (ADI-R; Rutter, LeCou- (SCQ) or Social Responsiveness Scale (SRS)
teur, & Lord-Revised, 2003): semistructured are briefer parent report measures used to con-
interview with the care giver that allows for scor- firm the history of symptoms of ASD (Chandler
ing whether autism is present
et al., 2007; Constantino et al., 2003) and may
Autism Diagnostic Observation Schedule (ADOS;
Lord, Rutter, DiLavore, Risi, Gotham, & Bishop,
be useful to support the clinical diagnosis of an
2012): structured interactions for children of dif- ASD in the outpatient clinical setting.
ferent language abilities to allow for observation
of symptoms of ASDs per the Diagnostic and Laboratory Testing and Neuroimaging
Statistical Manual of Mental Disorders, Fourth
Edition, Text Revision (DSM-IV-TR; American There is no standard medical workup for chil-
Psychiatric Association, 2000) criteria for both dren with ASDs. Etiologic workup is deter-
Autistic Disorder and Pervasive Developmental mined by the history and physical examination
Disorder
(Johnson, Myers, the Council on Children with
The above two measures are often used together
to characterize cases for research related to Disabilities, 2007). DNA analysis for fragile X
autism. syndrome is often recommended in children
Note: Clinical application of the diagnostic criteria from
with cognitive limitations and symptoms of
DSM-IV-TR by an experienced clinician is the mainstay of ASDs. Microarray has largely replaced high-
diagnosis. resolution karyotype as the initial recommended
test for evaluation for genetic etiologies for ASD
(see Chapter 1). Atypical results are present in
The identification of these conditions is inde- up to 10% of children with ASD. As the genes
pendent of a history of regression (e.g., fragile for ASD are identified, it is likely that testing for
X syndrome). specific gene alterations will be routinely recom-
A general physical and neurological mended.
examination should occur to identify intercur- Although impairments may be seen on
rent medical conditions that might exacerbate MRI in children with ASDs, the yield for diag-
behavior or underlying causes of the ASD. The nostic or treatable conditions identified by
physical examination should include an exami- routine neuroimaging studies is low. Similarly,
nation of the skin, as children with neurocuta- in the absence of a history of seizures, routine
neous syndromes (e.g., tuberous sclerosis) are screening with electroencephalography (EEG)
at higher risk for ASDs. Head circumference is not indicated (Filipek et al., 2000). General
should be monitored, with conventional neurometabolic screening rarely has positive results
logic assessment of macro and microcephaly. if the history and physical examination is
negative. Although additional medical and bio- Epilepsy

logical evaluations are often pursued, there is Overall, epilepsy is reported in about 25% of
no scientific evidence to support measurement individuals with ASDs and most commonly
of heavy metal levels in hair, blood, or urine; presents in infancy and adolescence (Trevathan,
immunologic parameters in blood; stool flora; 2004; Tuchman & Rapin, 2002). There is also
urine peptides; or yeast metabolites in urine in an increased likelihood of having an abnormal
children with ASDs (Levy & Hyman, 2005). EEG without seizures in people with ASDs.
The implications of this finding are unclear,
ASSOCIATED CONDITIONS and the role of antiepileptic drug treatment in
ASDs are commonly associated with comorbid the absence of seizures requires further study
symptoms or conditions (Levy et al., 2010). (Tuchman, 2004).
These are discussed next.
Tic Disorders
Intellectual Disability Up to 9% of children with ASDs have motor
Older studies report that up to three quarters of tics (brief involuntary movements), or Tourette
individuals with Autistic Disorder also have an syndrome. Tourette syndrome is diagnosed
intellectual disability. Yeargin-Allsopp and col- when both vocal and motor tics are present and
leagues (Yeargin-Allsopp et al., 2003) reported last 12 months or more. Tourette syndrome, in
that 68% of the children between 3 and 10 addition, may be associated with inattention and
years of age who were identified with ASDs in hyperactivity, obsessions, and learning disabili-
the Atlanta area had comorbid intellectual dis- ties. Individuals who have Tourette syndrome
ability. In contrast, only 40% of preschool chil- but not an ASD will manifest appropriate social
dren diagnosed with ASDs were found to have reciprocity (Ringman & Jankovic, 2000).
intellectual disability at the time of their first
evaluation (Chakrabarti & Fombonne, 2001). Sleep Disorders
With more expanded diagnostic criteria for Sleep disturbances are reported in 50%–70%
ASD, it is likely that both increasing numbers of children with ASDs (Malow et al., 2006).
of individuals with typical cognitive abilities Although often considered most problematic in
and with significant intellectual disability will the preschool years, symptoms persist into later
be identified as having ASDs. childhood in many children. Night waking,
It is assumed that the reason that intellectual delayed sleep onset, and early morning wak-
disability is so commonly associated with ASDs ing are all reported (Souders et al., 2009). Poor
is that the brain insults responsible for causing sleep may be associated with daytime inatten-
ASDs disrupt other neurologic functions as well. tion, irritability, and other difficulties (Malow,
Overlap of symptoms between intellectual dis- McGrew, Harvey, Henderson, & Stone, 2006).
ability and ASDs also complicates the diagnostic The underlying biologic causes may relate to
process. Careful clinical assessment is necessary abnormal melatonin synthesis and release or
to determine if social development is atypical for disordered sleep cycles. Until the etiology is
the child’s mental age. Symptoms of ASD, such better understood, the mainstay of treatment
as a lack of interest in peer play, lack of pretend is behavioral intervention. Medical treatment
play, and repetitive behaviors may also be seen in with melatonin to augment behavioral treat-
people with severe intellectual disability without ment has increasing research support (Johnson
an underlying ASD (de Bildt et al., 2004). & Malow, 2008).
Learning Disabilities Gastrointestinal Symptoms

Learning disabilities are common among indi- Although high rates of gastrointestinal symp-
viduals who have an ASD and average intellec- toms are reported among children with ASDs
tual function. Specific impairments in executive who attend subspecialty clinics, no increased
function—the cognitive tasks related to taking rate of complaint was identified in studies exam-
in, organizing, processing and acting on infor- ining primary care records in the United King-
mation—also may be present in people with dom. The subspecialty related problems included
ASDs, manifesting as learning differences and/or abdominal pain, gastroesophageal reflux, diarrhea,
attention-deficit/hyperactivity disorder (ADHD) constipation, and bloating (Erickson et al., 2005).
(Chan et al., 2009; Schmitz et al., 2006). Abdominal discomfort may be responsible for
356 Hyman and Levy
acute behavior changes. In addition to abdomi- Chromosome 15 Deletion

nal discomfort, children with ASDs often have Prader-Willi syndrome and Angelman syn-
specific food aversions and rituals and are at risk drome share a common region for chromo-
for nutritional compromise. In sum, symptoms somal deletion on chromosome 15 (15q11-q13)
of gastrointestinal disease need to be assessed (Kwasnicka-Crawford, Roberts, Scherer, 2007).
and treated in children with ASDs as with any People with Prader-Willi syndrome have pro-
other children (Buie, Campbell, et al., 2010; found obesity, short stature, skin picking behav-
Buie, Fuchs, et al., 2010). iors, and mild cognitive limitations. Angelman
syndrome is characterized by intellectual dis-
Psychiatric Conditions ability, happy affect, ataxic movements, hand
Children with ASDs are at greater risk for clapping, and a characteristic facial appearance.
depression, mood disorders, ADHD, and anxi- A subgroup of children within ASD with a vari-
ety (Levy et al., 2010). Comorbid diagnosis may able phenotype has been identified who also
be most evident in adolescents with adequate have a deletion or duplication in this region
language and insight to allow standard applica- on chromosome 15 (Muhle et al., 2004; Peters,
tion of diagnostic criteria. Beaudet, Madduri, & Bacino, 2004).
Genetic Disorders Associated Other Syndromes Associated

with Autism Spectrum Disorders with Autism Spectrum Disorders
ASDs occur with greater frequency among chil- An increased rate of ASDs has been reported
dren with certain genetic disorders, and these in Moebius syndrome (facial diplegia) and Jou-
children should be closely monitored for signs bert syndrome (cerebellar hypoplasia). Both
and symptoms of autism. Additional informa- of these syndromes involve disruption of early
tion about these syndromes may be found in embryologic brain development. Other genetic
Appendix B. syndromes that have been associated with
ASDs include Down syndrome, PTEN muta-
Tuberous Sclerosis tion, CHARGE syndrome (coloboma and cra-
nial nerve abnormalities, defects of the eyeball,
Tuberous sclerosis is an autosomal dominant
heart defects, atresia of the choanae, retardation
disorder caused by a defect in the TSC2 gene
of growth and development, genital and urinary
that codes for the protein tuberin. This neu-
abnormalities, and ear abnormalities and hear-
rocutaneous condition results in characteris-
ing loss), and Smith-Lemli-Opitz syndrome.
tic skin lesions (depigmented oblong patches
The co-occurrence, of these syndromes and the
called ash leaf spots), acne-like adenoma seba-
behaviors of autism may help researchers learn
ceum, and benign growths (tubers) in the brain
more about the neurobiology of ASDs (Kumar
(Smalley, 1998). Intellectual disability and sei-
& Christian, 2009; O’Roak & State, 2008). Cli-
zures are common features. Although only
nicians caring for children with syndromes that
1%–4% of people with ASDs are likely to have
place them at increased risk for ASD should
tuberous sclerosis, a substantial number of chil-
screen them for symptoms of autism through
dren with tuberous sclerosis have symptoms of
early childhood.
autism. All children being evaluated for an ASD
should be examined to rule out neurocutaneous
conditions. TREATMENT APPROACHES
It is important to diagnose children with ASDs
Fragile X Syndrome early and accurately, as it is believed that treat-
At one time fragile X syndrome, the most prev- ment is most effective if started early. Early
alent cause of inherited intellectual disability, educational programs focus on teaching social
was believed to be a common genetic cause of language and enhancing appropriate behav-
ASDs. With careful clinical diagnosis, it has iors. The National Research Council (2001)
become clear that a large number of individuals recommended intervention that is intensive,
with fragile X syndrome have many symptoms multidisciplinary, and continuous. Goals of
of ASDs but may not meet strict criteria for the autism treatment include 1) fostering develop-
diagnosis (Clifford et al., 2007; Hall, Lightbody, ment, 2) promoting learning, 3) reducing rigid-
Hirt, Rezvani, & Reiss, 2010). Conversely, up ity and stereotypy, 4) eliminating maladaptive
to 2% of boys with an ASD have been found to behaviors, and 5) alleviating family distress
have fragile X (Moss & Howlin, 2009). (National Research Council, 2001; Rutter, 1985).
A comprehensive approach usually requires a that specific academic goals should relate to
combination of an individualized educational the child’s cognitive and functional level, and
program (IEP), behavioral intervention and the program should be provided in the least
supports, social and pragmatic language skills restrictive environment (see Chapter 31). The
development, and family support. Research Handicapping Condition under federal law is
on efficacy of treatments has focused on social Autism.
communication and behavioral impairments, Children with ASDs should have their
and the use of highly structured approaches that individualized needs addressed whether they
are integrated into the home, educational, and are educated in small structured classrooms
community environments (Warren et al., 2011). or in inclusive environments. Inclusive educa-
Most effective programs include a combination tion allows for the child to model appropriate
of developmental and behavioral approaches behaviors and learn how to participate in the
to address core impairments and ameliorate community. Modifying educational materi-
behavior difficulties. als may require consultant teacher support or
team-taught classrooms. Some children with
Educational Approaches ASDs may benefit from a more structured
A critical component of treatment is education environment with fewer sensory distractions. A
(National Research Council, 2001). There are specialized class setting could potentially be less
many different approaches to preschool educa- restrictive for some children with ASDs because
tion for children with ASDs. Successful pro- the predictability may result in less personal
grams share the characteristics of early entry, distress. Many educational strategies are used
active participation in an intensive program to enhance the success of children with ASDs
offered daily throughout the year, planned in the classroom (Harrower & Dunlap, 2001;
teaching opportunities organized with the Jordan, 2005). Future studies need to deter-
attention span of the child in mind, and suffi- mine which programs are most effective and for
cient adult staffing to meet the needs of the indi- which students (White, Scahill, Klin, Koenig,
vidual child and his or her program. An increase & Volkmar, 2007).
in tested IQ scores has been documented in TEACCH (Treatment and Education of
young children with autism who participate in Autistic and related Communication Handi-
disorder-specific interventions (Harris, Handle- capped Children) was one of the initial disorder-
man, Gordon, Kristoff, & Fuentes, 1991). This specific educational programs that recognized
finding may be in part the result of maturation, the need for an intensive and coordinated
and increased motivation to participate in test- approach toward skill building and develop-
ing. A recent randomized controlled trial of the ing communication abilities (Mesibov & Shea,
Early Start Denver Model (ESDM), a compre- 2010; Panerai, Ferrante, & Zingale, 2002). It
hensive developmental behavioral intervention, was designed to address the needs of the child
reported improvement in IQ, adaptive behav- and family across the school experience and
ior and autism diagnosis after 2 years of treat- includes classroom teaching, parent training,
ment that was initiated before 30 months of age and other support services. The approach is
(Dawson et al., 2010). Further study is needed eclectic and involves the use of behavioral strat-
to determine if the children sustain their gains egies to enhance communication and social
and how these treatment strategies may be interaction, as well as visual organization and
implemented more widely. cuing. In addition, it emphasizes the parents’
Although there are philosophical differ- roles as cotherapists.
ences among some of the teaching strategies,
most preschool programs utilize the following: Behavioral Approaches
1) structured teaching periods, 2) reinforcement
Applied Behavior Analysis
of spontaneous communication, 3) instruction of
specific skills using principles of reinforcement, Most behavioral treatment programs are based
and 4) incidental learning (i.e., use of spontane- on principals and procedures of applied behav-
ously occurring “teachable moments”). ior analysis (ABA). This involves combining
For children 3–21 years of age, Autistic principles of learning and motivation with an
Disorder is included as a special category of understanding that consequences of behav-
educational disability under the Individuals ior (whether positive or negative) reinforce or
with Disabilities Education Improvement Act of extinguish subsequent behavior (Granpeesheh
2004 (IDEA; PL 108–446). This law mandates & Tarbox, 2009). Many types of ABA-based
358 Hyman and Levy
programs exist, with varying degrees of evi- Communication and problem solving are also
dence for efficacy (Rogers & Vismara, 2008; practiced, and the adults shape the development
Vismara & Rogers, 2010). of appropriate play and interaction.
The behavioral principles of operant
learning (see Chapter 32) were initially used in Relationship Development Intervention
a program for preschool children with ASDs Relationship Development Intervention (RD;
developed by Dr. Ivar Lovaas (1987). His stud- Gutstein, Burgess, & Montfort, 2007) is another
ies demonstrated that intensive early interven- approach that addresses social learning as an
tion that specifically teaches the component apprenticeship model. Adults lead the child
skills necessary for development was associated through learning how to interact and respond
with subsequent typical classroom performance in naturalistic settings. Parents are educated to
in almost half of the 20 children with autism understand the core impairments of ASDs so
studied (McEachin, Smith, & Lovaas, 1993). they can respond and shape their child’s responses
This model initially tested a 40-hour per-week to language and social situations. There is little
program that was based on individual therapy data currently available about the efficacy of this
using discrete trial teaching, prompting, and treatment.
reinforcement. Goals of the first year of treat-
ment were to develop language skills, increase Other Models
social use of language, increase social approach, A combination of approaches has been studied
promote play skills, and decrease behaviors that in young children that address skill development
competed with the desired goals of therapy. In using behavioral approaches. The Early Start
the second year of treatment, the goal was to Denver Model (ESDS) as previously described
extend intervention to a preschool environ- is a good example of this (Dawson et al., 2010).
ment in order to encourage interaction with
peers and generalize the acquired skills. Later Management of
studies reported qualitative improvement even
in children who do not have the dramatic
Maladaptive Behaviors
response to behavioral treatment as a result Behavioral support can be helpful in establish-
of comorbid intellectual disability (Smith, ing daily routines, in extinguishing destructive
Eikeseth, Klevstran, & Lovaas, 1997). Modi- behaviors, and in responding to tantrums. All
fications in the delivery of ABA services have behaviors carry meaning and should not be pre-
addressed teaching language skills and using a sumed to be random acts. For example, painful
variety of behaviorally based strategies for skill medical conditions and comorbid psychiatric
development (Koegel, Koegel, & McNerney, conditions should be considered in cases of
2001). Generalization of skills to the home and acute behavior deterioration. If the origin of
classroom are an important component of the the behavior is identified, it may be possible to
treatment plan (Foxx, 2008). ABA has been par- teach more effective ways to achieve a similar
ticularly useful in children with ASD and intel- result (e.g., comfort, communication) and to
lectual disability. expand behaviors that increase social adapt-
ability. A functional behavior analysis at school
Developmental-Individual is indicated if behaviors interfere with class-
Difference-Relationship Based Model room functioning (Dalton, 2002). This for-
mal assessment determines why the behaviors
The Developmental-Individual Difference-
are occurring. A functional behavior plan can
Relationship Based model (DIR model) is a
then be developed to alter the environmental
treatment strategy (Wieder & Greenspan,
factors that precipitate the challenging behav-
2003) that builds on social communication
iors or teach the child and staff other means of
learned in relationships with consistent and
responding (see Chapter 30).
responsive adults. “Opening and closing cir-
cles of communication” in the context of child
Pragmatic Language
directed play is one focus of this intervention.
It depends on participation by the family and and Social Skills Training
educational team. This type of therapy has been Communication attempts by children with
demonstrated to contribute to developmental ASDs should be rewarded socially or in other
gains when used as part of an early intervention ways to foster language development. It has
program (Mahoney & Perales, 2005). It seeks to been shown (Bondy & Frost, 1998) that orga-
build shared attention, leading to engagement. nizing visual cues helps children with ASDs
associate the spoken word with events. This Medication

helps them learn the role of communication
There is no medication that corrects the
in obtaining tangible items and can be built
underlying impairments in ASDs. However,
into a Picture Exchange Communication Sys-
medication may play a role in a comprehensive
tem (PECS; Bondy & Frost, 2001; Charlop-
therapeutic program that also includes educa-
Christy, Carpente, Le, LeBlanc, & Kellet,
tional, developmental, and behaviorally based
2002). Therapy may include a visual language
therapy. Treatment with medication should be
system (picture or sign) that, in some cases,
directed at specific target behaviors or comor-
scaffolds the development of spoken commu-
bid psychiatric or medical conditions.
nication. The use of augmentative and alter-
native communication (AAC) is different from Stimulant Medications
facilitated communication (see Chapter 20). In
AAC, children who do not have efficient oral Hyperactivity and inattention are common
speech (e.g., verbal apraxia) are taught to inde- symptoms in children with ASDs. If appro-
pendently gain access to written, graphic, or priate language and educational interventions
computer-assisted technologies for indepen- are in place and inattention persists, treatment
dent communication. Facilitated communica- with conventional stimulant medications such
tion is a technique whereby a facilitator guides as methylphenidate or mixed dextroamphet-
the individual with an ASD to type responses. amine salts can have beneficial effects (Handen,
Subconscious guidance by the facilitator has Johnson, Lubetsky, 2000; see Appendix C).
been demonstrated under experimental con- Side effects may include insomnia, decreased
ditions, and facilitated communication is not appetite, increased moodiness, and repetitive
endorsed for clinical use (Mostert, 2001). behaviors. Alpha-adrenergic agonists, guanfa-
For children who have spoken language, cine and clonidine, have been used for treat-
an important objective is the promotion of ment of motor hyperactivity with some success
language skills used in conversation. Prag- (Handen, Sahl, & Hardan, 2008). General
matic language refers to the integration of side effects of these two medications include
gesture, expression, proximity, and inflection hypotension and sedation. Because side effects
of language to enhance interpersonal under- of stimulant medications might include an
standing of communication; and it is a core increase in repetitive behaviors, moodiness, or
impairment in many individuals with ASD appetite suppression with the use of stimulants,
(Russell & Grizzle, 2008; Tesink et al., 2009). an alternative is the use of atomoxetine, which
Pragmatics involves both production and has similar benefits to stimulants. All of these
understanding of these functions in the con- drugs act on the neurotransmitters dopamine
versational partner. These skills can make the and norepinephrine, which have been shown to
difference in permitting independent living, improve ADHD symptoms.
employment, and higher education. Encour-
aging social and pragmatic language develop- Selective Serotonin Reuptake Inhibitors
ment can be accomplished through a variety Because of some similarities between persevera-
of approaches, including modeling by peers tive interests and obsessions, selective serotonin
in inclusive settings, Social Stories (Chan & reuptake inhibitors (SSRIs) have been used to
O’Reilly, 2008; Kokina and Kern, 2010), for- treat repetitive behaviors, irritability, and self-
mal social skills curricula (Bellini & Peters, injury in people with ASDs (Moore, Eichner,
2008), supervised social skills group experi- & Jones, 2004). Decreasing anxiety may have
ences, and tutoring by typically developing additional benefits in enhancing language and
peers (Rogers, 2000). social interactions. Side effects may include
Children with ASDs may not generalize paradoxical hyperactivity or mood instabil-
rehearsal that occurs in a group to other set- ity. Suicidal behaviors have very rarely been
tings unless specifically taught to do so. More- reported with drugs in this class when used
over, these techniques may not bridge the gap to treat adolescent depression. Monitoring of
between social interactions and social relation- mood and behavioral response is suggested. No
ships (Bauminger, Solomon, & Rogers, 2010). benefit was noted in reduction of repetitive or
Therefore, educational objectives should agitated behaviors in a double blind trial of cit-
address mastery of social skills in different set- ralopram (King et al., 2009). Additional studies
tings and with different people. are necessary to determine if there is significant
360 Hyman and Levy
improvement in behaviors in children with intestinal distress in some children with ASDs.
ASD treated with SSRIs (Williams, Wheeler, Although there are many anecdotal reports
Silove, & Hazell, 2010). of improvement, there is no scientific data to
support the use of this intervention (Millward,
Atypical Neuroleptics Ferriter, & Connell-Jones, 2008). Despite this,
Well-designed trials have demonstrated that the gluten- and casein-restricted diet remains
the atypical neuroleptics risperdone and popular. Families who decide to pursue it need
aripiprazole significantly improve irritability, to carefully monitor their child’s nutritional
aggression, and self-stimulatory/self-injurious needs; for example, when milk is removed from
behaviors in children with ASDs and intel- the diet, alternative sources of calcium, vitamin
lectual disability (Findling, Steiner, & Weller, D, and protein need to be provided.
2005; McCracken et al., 2002; McDougle et al., Vitamins are often used in doses far greater
2005). The major side effect seen is weight gain, than the recommended daily intake in an attempt
which can be considerable. Less common side to effect behavior change. Vitamin B6 taken
effects from this class of medications include with magnesium is one such treatment that has
metabolic syndrome (a prediabetic state with been used to enhance attention and language.
hypertension and elevated blood lipids), tardive Although several uncontrolled studies suggested
dyskinesia (a movement disorder), sedation, and benefit, two double-blind placebo-controlled
hormonal imbalances. Routine monitoring for studies did not demonstrate efficacy (Nye &
side effects is important. Brice, 2005). Other nutritional treatments that
enjoy popularity include supplementation with
Mood Stabilizers essential fatty acids, B12, dimethylglycine, and
Antiepileptic drugs used to treat bipolar dis- carnosine (Levy & Hyman, 2008). Other types
order, such valproic acid and carbamazepine, of CAM have been used to treat hypothesized
have also been employed in the management of infectious or immune imbalances such as yeast
explosive behaviors in people with ASDs (Hol- overgrowth in the colon and intestinal dysbiosis
lander, Dolgoff-Kaspar, Cartwright, Rawitt, (Finegold et al., 2002); current scientific litera-
& Novotny, 2001). Both medications need to ture does not support these treatments. When
be monitored with blood levels. By extension, using a CAM therapy children should have tar-
newer antiepileptic drugs such as lamitrigane, get behaviors identified and a monitoring system
topiramate, and oxycabemazepine are some- in place to determine if the treatment has a posi-
times used. tive effect. Knowledge of potential side effects is
also crucial.
Other Medications Sometimes the non–FDA-approved use
of a prescription medication becomes a CAM
Other types of medications are being inves-
therapy. Secretin is one example. Secretin is a
tigated for treatment of symptoms of ASDs.
hormone that increases pancreatic secretion into
Recent animal and human studies support fur-
the intestine and is usually employed to evalu-
ther study of medications that act as agonists for
ate pancreatic function during endoscopy. The
GABA and excitatory amino acids. Advances in
anecdotal observation of behavior improvement
technology are likely to bring to market other
in three children who received secretin during an
medications designed to affect specific neural
endoscopic procedure resulted in its subsequent
systems.
widespread use. It should be noted, however, that
more than 700 children with ASDs have been
Complementary and
studied in double-blind placebo-controlled tri-
Alternative Therapies als of secretin without confirmation of the origi-
Almost two thirds of Americans receive treat- nal improvement (Williams, Wray, & Wheeler,
ments that fall into the category of comple- 2005). As a result, secretin is not recommended
mentary or alternative medicine (CAM; see for treatment of ASD.
Chapter 38). In ASDs the most common CAM Not all CAM therapies are biologic.
therapies have involved dietary manipulation, Facilitated communication, auditory integra-
vitamin supplements, and non–FDA-approved tion training, and optometric training are non-
use of prescription medication (Levy & Hyman, biologic examples of CAM that have been used
2003). Dietary treatment is particularly popu- in ASDs. The conventional medical literature
lar. Elimination of gluten and casein (wheat and does not support the use of these interventions.
milk proteins) has been hypothesized to result in Sensory integration techniques are often used
decreased symptoms of autism and in decreased by occupational therapists to stimulate or calm
children who demonstrate altered sensory and impossible to predict at the time of diagnosis
motor reactivity (Baranek, 2002). Although which children will respond positively to inter-
popular, there is little data to support gen- vention and which children will later be diag-
eral implementation of these strategies. With nosed with intellectual disability. Therefore, the
greater understanding of the neurobiology of need to provide an intensive, disorder-specific
sensory processing, effective sensory interven- intervention program to all children with ASDs
tions may be developed and studied. Music is imperative.
therapy may be one such promising approach
(Gold, Wigram, & Elefant, 2006). Until appro-
priately designed scientific studies are com-
SUMMARY
pleted, each child must be evaluated by the ASDs are neurodevelopmental disorders with a
family and therapy team for both positive and genetic basis, the presentation of which might
negative responses to CAM therapies that fami- be modified by environmental factors. These
lies choose to employ. disorders are characterized by impairments in
communication, social interaction, and repeti-
Family Supports tive interests and behaviors. Children with
Families should be connected with appropri- ASDs may have associated intellectual disabil-
ate parent support organizations at the time ity and severe communication impairments.
of diagnosis (Chapter 37). The stressors of Individuals with typical cognitive abilities have
receiving the diagnosis, making decisions, and symptoms related to social reciprocity and
addressing the child’s needs may require refer- repetitive behaviors. Advances in early recogni-
ral for additional counseling services for other tion and intervention have had a positive impact
family members. The needs of siblings must on outcome and quality of life for people with
also be addressed. It is encouraging to note ASDs and their families. Individualized, multi-
that most studies indicate that siblings of chil- dimensional treatment is the standard of care
dren with disabilities are resilient (Kaminsky & and may be associated with notable improve-
Dewey, 2002). ments in symptoms.
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ral mechanisms of imitation and ‘mirror neuron’ 200205000-00015
22 Attention Deficits
and Hyperactivity
Marianne Glanzman and Neelam Sell

■ Be familiar with the characteristics of attention-deficit/hyperactivity disorder
■ Be aware of some of the causes of inattention and hyperactivity
■ Understand the components of the diagnostic process
■ Know the different approaches to management
■ Be aware of the natural history and outcomes for this disorder
Attention-deficit/hyperactivity disorder (ADHD) to read. He also is quite disruptive in class, fre-

is one of the most prevalent neurodevelopmental/ quently not listening to directions, getting out of
mental health conditions in childhood. It is char- his seat, making silly comments, and talking out
acterized by developmentally inappropriate levels of turn. His first-grade teacher reported similar
of inattention and distractibility and/or hyper- problems, but these difficulties were attributed
activity and impulsivity that cause impairment to him having to adjust to the new school, as he
in adaptive functioning at home, school, and in
attended a Montessori kindergarten previously.
social situations. Treatment improves short-
His parents and soccer coach have also noticed
term academic, social, and adaptive functioning
(Multimodal Treatment Study of ADHD [MTA] problems with his ability to follow directions and
Cooperative Group, 2004a). Comprehensive pay attention. Ricky was adopted shortly after
management leads to some documented long- birth, so there is no family history available. He
term benefits for children with ADHD, though has, however, always had a “difficult” tempera-
much work remains to be done to improve their ment. He was a colicky infant with poor sleep
outcomes. We now understand that the condition patterns. As a preschooler, he was demanding
and its impact tend to persist into adolescence and and would exhaust all those around him. His
adulthood in a substantial percentage of individu- parents and teachers feel that he is still quite
als (Spencer, Biederman, & Mick, 2007). immature and demanding, as he requires much
more attention than other children his age.
■ ■ ■ Ricky
A comprehensive evaluation revealed that
Ricky, age 7, is in second grade. His teacher Ricky has ADHD combined type and a learning
reports that he is having great difficulty learning disability in reading, though he is intellectually
369
370 Glanzman and Sell
gifted. Ricky is at significant risk for both aca- other criteria for ADHD do not demonstrate
demic and behavior difficulties, so a multimodal functionally impairing symptoms before later
treatment plan was put into place. Stimulant elementary or middle school (Barkley, 2010;
medication has been dramatically helpful at Stefanatos & Baron, 2007).
school and is used on weekends and school ADHD-C is the most commonly diagnosed
vacations as well for improved functioning in and studied form of ADHD. It is associated
with social impairment, increased prevalence
social situations and activities of daily living. His
of coexisting internalizing (anxiety and mood)
counseling focuses on the development of a
disorders, and externalizing (oppositional defi-
consistent behavior management plan at home ant and conduct) disorders, as well as academic
and school and social skill instruction. At school, underachievement (Baeyens, Roeyers, & Walle,
he receives resource room assistance for read- 2006; Spencer, Biederman, et al., 2007).
ing and language arts, enrichment program- The second most common subtype,
ming in math, and weekly meetings with the ADHD predominately inattentive type
school counselor for a social skills group. (ADHD-I), refers to individuals who do not
display significant levels of hyperactivity but
have significant problems in maintaining atten-
DIAGNOSIS tion. There is some evidence to suggest that
AND ATTENTION- the specific nature of inattention in this sub-
DEFICIT/HYPERACTIVITY type may differ from the inattention shown
DISORDER SUBTYPES by those with the combined subtype. A “slow”
cognitive tempo is characteristic in ADHD-I.
ADHD is a neurobehavioral syndrome; as of The ratio of girls to boys with this subtype is
2011, there are no available medical or psycho- slightly higher than for the other subtypes, and
logical tests to definitively make the diagnosis. it is usually identified at a later age. The pattern
Instead, the diagnosis depends on “ruling in” of psychiatric comorbidity also differs from that
symptoms of ADHD and “ruling out” other of ADHD-C type with fewer oppositional or
causes of the symptoms. Through the use of conduct disorders, but with more anxiety and
interviews and rating scales to systematically mood disorders. Educational impairments are
collect information from parents, teachers, and the most prominent difficulty experienced by
(older) children, the clinician must determine this group (Baeyens et al., 2006; Barkley, 1998;
whether 1) significant ADHD symptoms are Stefanatos & Baron, 2007).
present in more than one setting; 2) they result The third subtype, ADHD predominantly
in functional impairment; and 3) they are the hyperactive/impulsive type (ADHD-HI), was
result of another psychiatric, medical, or social first identified in DSM-IV and refers to chil-
condition rather than ADHD (American Acad- dren who do not display significant levels of
emy of Pediatrics, 2011; Pelham, Fabiano, & attention problems in the presence of hyper-
Massetti, 2005). The current diagnostic criteria activity and impulsivity. This subtype is most
consist of two major clusters of symptoms: inat- often diagnosed in preschool age boys and may
tention and hyperactivity/impulsivity. These change over time to the combined subtype as
criteria, outlined in the Diagnostic and Statistical young children may have not yet reached an
Manual-IV (DSM-IV-TR) of the American Psy- age at which attention problems are impair-
chiatric Association (APA), are shown in Table ing (Greenhill, Posner, Vaughan, & Kratochvil,
22.1 (American Psychiatric Association [APA], 2008). The developmental course of this sub-
2000). type and its response to treatment continue to
Children who display a significant num- be explored.
ber (>6) of symptoms from both clusters have Finally, ADHD not otherwise specified
ADHD combined type (ADHD-C), provided: (ADHD-NOS) can be used for individuals who
1) the symptoms were evident before age 7; 2) have significant functional impairment from the
they have persisted for at least 6 months; and symptoms of ADHD but may not meet strict
3) they occur across multiple settings (i.e., both criteria for the diagnosis based on number of
school and home), cause impairment, and can- symptoms present or age of onset criteria. Any
not be better accounted for by another disor- of the subtypes can be used with the phrase “in
der. The selection of 7 years as the age at which partial remission” when symptoms are present
symptoms must have been present is contro- but have improved such that the individual no
versial because some children who meet all longer meets strict criteria.
Attention Deficits and Hyperactivity 371
Table 22.1. Current Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision
criteria for attention-deficit/hyperactivity disorder (ADHD)
A. Inattention/distractibility
1. Often fails to give close attention to details or makes careless mistakes in schoolwork, work, or other
activities
2. Often has difficulty sustaining attention in tasks or play activities
3. Often does not seem to listen when spoken to directly
4. Often does not follow through on instructions and fails to finish schoolwork, chores, or duties in the
workplace (not due to oppositional behavior or failure to understand instructions)
5. Often has difficulty organizing tasks and activities
6. Often avoids, dislikes or is reluctant to engage in tasks that require sustained mental effort (e.g., school-
work, homework)
7. Often loses things necessary for tasks or activities (e.g., toys, school assignments, pencils, books, tools)
8. Is often easily distracted by extraneous stimuli
9. Is often forgetful in daily activities
B. Hyperactivity
1. Often fidgets with hands or feet or squirms in seat
2. Often leaves seat in classroom or in other situations in which remaining seated is expected
3. Often runs about or climbs excessively in situations in which it is inappropriate (in adolescents or adults,
may be limited to subjective feelings of restlessness)
4. Often has difficulty playing or engaging in leisure activities quietly
5. Is often “on the go” or acts as if “driven by a motor”
6. Often talks excessively
Impulsivity
1. Often blurts out answers before the questions have been completed
2. Often has difficulty awaiting turn
3. Often interrupts or intrudes on others (e.g., butts into conversations or games)
To make a diagnosis
A. At least 6 symptoms from just Category A (ADHD, Inattentive subtype) or just Category B (ADHD, Hyper-
active-impulsive subtype), or at least 6 symptoms from both categories (ADHD, Combined subtype)
B. Symptoms are chronic (some symptoms were functionally-impairing from before the age of 7), are clearly
significantly impairing (in social, academic, or occupational functioning), are present across settings
C. Symptoms do not occur exclusively during the course of a pervasive developmental disorder, schizophre-
nia or other psychotic disorder, and are not better-accounted for by another mental disorder (e.g., mood,
anxiety, dissociative, or personality disorder).
Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision
(Copyright ©2000). American Psychiatric Association.
There is ongoing research regarding the detected in 7%–10% of children in the United
two major symptom domains and subtypes of States (Froelich et al., 2007; Pelham et al.,
ADHD. Some research suggests that the inat- 2005; Visser, Lesesne, & Perou, 2007) and has
tentive subtype and hyperactive subtype have a pooled prevalence of 5% worldwide (Polan-
different genetic influences, although both are zyck, de Lima, Horta, Beiderman, & Rohde,
highly heritable (Nikolas & Burt, 2010). Pro- 2007). The diagnosis is estimated to persist
posed revisions to the DSM-5 further clarify into adulthood in 2%–5% of the population in
hyperactive and impulsive symptoms separately the United States (Barkley, 2010; Fayyad et al.,
and delineate more clearly the diagnosis of the 2007; Simon, Czobor, Balint, Meszaros, & Bit-
three subtypes. ter, 2009). In clinic-referred samples, the ratio
of boys:girls diagnosed with ADHD ranges
from 6:1 to 12:1, though in community sam-
PREVALENCE AND EPIDEMIOLOGY
ples that ratio is closer to 3:1 (Biederman et al.,
Although diagnostic practices, service utiliza- 2005). It is thought that boys may be referred
tion, and prevalence rates differ widely across more often due to a higher rate of co-occurring
and within cultures, when similar diagnos- aggressive behavior, oppositional and con-
tic procedures are utilized, ADHD has been duct disorders. Girls may be more likely to be
referred because of the inattentive subtype and because of low levels of hyperactivity/impulsivity,
associated learning and internalizing disorders strong intellectual skills, social, athletic, or other
(mood and anxiety disorders) as well as disor- strengths, and supportive families and school
dered eating (Quinn, 2008; Rucklidge, 2010). personnel, may present in adolescence. Their
attentional/executive systems may finally be
overwhelmed by the demands for processing
CLINICAL PRESENTATION increased volumes of reading and writing, as
The presenting symptoms of ADHD differ well as the complex social, time management,
with age. During the preschool years, exces- organizational, and higher-order thinking and
sive activity level and impulsivity are typically language processing skills required of them in
the most prominent symptoms. This is often high school.
accompanied by “intense” temperament and
cognitive inflexibility. In combination, these COMMON
symptoms may lead to impulsive aggression
COEXISTING CONDITIONS
toward peers. Given the high activity level and
short attention span of the typical preschooler, There are several conditions that commonly
only children severely affected with ADHD coexist with ADHD, typically referred to as
will differ sufficiently from the developmental “comorbid” or “coexisting” conditions. Less
norm to fully meet the criteria for the disorder. frequently, another condition mimics ADHD
Children in this age group who meet diagnostic and is the primary cause of inattentive or
criteria for ADHD have a greater rate of devel- hyperactive symptoms rather than coexist-
opmental delay, coordination disorders, lan- ing with ADHD (see The Evaluation Process
guage disorders and comorbid internalizing and in a following section). Coexisting conditions
externalizing disorders (Chacko, Wakschlag, are important to identify during an evaluation
Hill, Danis, & Espy, 2009; Greenhill et al., because 1) they will often require additional or
2008). In order to make an accurate diagnosis, different treatment, and 2) unless treated, they
children who present in the preschool period may prevent adequate treatment of ADHD.
should be carefully assessed for language, cog- Up to two thirds of children and adoles-
nitive, sensory, and autistic spectrum disorders, cents with ADHD presenting to a specialty
all of which have some similarities in presen- clinic will have a coexisting disorder, including
tation to ADHD (Daley, Jones, Hutchings, & internalizing disorders (mood and anxiety dis-
Thompson, 2008). Future research into the orders), externalizing disorders, learning disor-
treatment of preschool children with ADHD ders, and/or tic disorders (Pliszka, 2000; Singer,
will likely include the impact of early interven- 2005). More than half of children with ADHD
tion before the social and academic problems have an externalizing behavior disorder, such
commonly seen at school age occur (Sonuga- as oppositional defiant disorder (~60%; char-
Barke & Halperin, 2010). acterized by noncompliance and defiance of
Upon entering elementary school, prob- authority) or conduct disorder (~20%; charac-
lems with listening and compliance, task comple- terized by more serious antisocial behaviors)
tion, work accuracy, and socializing are common (Conner, Steeber, & McBurnett, 2010). There
concerns of parents and teachers. In adoles- is an association between hyperactive/impulsive
cence, observable hyperactivity may decline sig- symptoms and oppositionality (Wood, Rijsdijk,
nificantly (Faraone, Biederman, & Mick, 2006). Asherson, & Kuntsi, 2009). Estimates of mood
Concerns then often focus around work comple- disorders (depression, anxiety, or bipolar dis-
tion, organization, and following rules. Approxi- order) in ADHD vary considerably from study
mately 65% of children with ADHD diagnosed to study, ranging from 14%–83%. Childhood
early in childhood continue to meet the criteria bipolar disorder has been examined in several
for the disorder in adolescence, while an addi- cross-sectional studies at tertiary care centers,
tional group will meet criteria for ADHD, not with rates ranging from 11%–23%. Children
otherwise specified because of a reduced num- with bipolar disorder are likely to have episodic
ber of symptoms. Occasionally, individuals are irritability or atypical mood, intermittent explo-
not diagnosed with ADHD until adolescence, siveness, psychomotor agitation characterized
though they must have had symptoms by history by talkativeness or motor restlessness, and signs
that were impairing in childhood in order to meet of disordered thinking (Galanter & Leiben-
current diagnostic criteria. Children who were luft, 2008). Anxiety disorders occur in approxi-
able to cope during the early grades, typically mately 15%–35% of children with ADHD and
may include separation anxiety, generalized Nonetheless, they can be significantly impairing
anxiety, phobic, or obsessive-compulsive disor- and may require additional interventions. These
ders (OCD; Schatz & Rostain, 2006). Comor- include impairments in executive, language,
bid anxiety and ADHD may lead to increased social, academic, and adaptive functions, as well
school problems and functional impairment as as altered sleep patterns and motor coordination.
compared with either disorder alone (Hammer- Although ADHD is defined and diagnosed
ness et al., 2009). based on the presence of observed behavior,
The prevalence of learning disorders in neuropsychological investigations suggest that
children with ADHD ranges from 10%–40%, impairments in executive functioning based
depending on which test and criteria for learning in the frontal/prefrontal cortex may in part
disabilities are utilized (Kronenberger & Dunn, underlie the characteristic observed behaviors
2003). Although the prevalence of specific read- in many children with ADHD (Weyandt, 2005;
ing disability (the most common type of learn- Willcutt, Doyle, Nigg, Faraone, & Pennington,
ing disability) among students with ADHD is 2005). Executive functions include sustaining
unclear because of variability in how each diag- and shifting attention, being able to hold and
nosis is made, it is estimated to be about 30% manipulate information in order to complete a
(Fletcher, Shaywitz, & Shaywitz, 1999). task (working memory), organizing and priori-
Tic disorders, including transient, chronic, tizing incoming information, planning ahead,
or Tourette syndrome are seen in at least 6% of self-monitoring, and inhibiting responses
children in a community sample over the course (Martinussen, Hayden, Hogg-Johnson & Tan-
of a year, with transient tics being the most nock, 2005). It should be noted that executive
common (approximately 5%) and Tourette syn- function impairments are also found in other
drome being the least common (< 1%; Khalifa developmental disabilities, including autism
& von Knorring, 2005). Group data show no and learning disabilities. Impairments in audi-
increase in rates of tic disorders in children with tory processing can also occur with symptoms
ADHD on psychostimulant medications, but of ADHD and contribute to academic under-
tics may occur on an individual basis (Erenberg, achievement (Dawes & Bishop, 2009).
2006). Persistent tics are often associated with Executive function impairments contrib-
ADHD, as well as other neuropsychiatric con- ute independently from ADHD symptoms to
ditions, most notably OCD (Pollak et al., 2009). academic difficulties. According to one meta-
Tics can occur on a spectrum from mild (which analysis, 21% of children with ADHD have no
may not even be reported by parents) to the executive function impairments, depending on
more severe (in which tics have important phys- the measures used (Castellanos, Sonuga-Barke,
ical, emotional, and social impact). In children Milham, & Tannock, 2006; Willcutt, Doyle, et
with ADHD and Tourette syndrome, ADHD al., 2005). Other neuropsychological impair-
typically causes greater functional impairment ments, such as motivation and altered responses
than does the tic disorder itself (Denkla, 2006; to reinforcement, are also thought to contribute
Singer, 2005). Nonetheless, the clinician must to the underlying symptoms of ADHD (Nigg,
look for tic disorders by history and exam in the 2005; Tripp & Wickens, 2009). However, indi-
child presenting for an evaluation for ADHD, viduals with ADHD do not have a single, uni-
and in family members, as it may have implica- form neuropsychological profile (Doyle, 2006).
tions for treatment. Academic underachievement is a concern
Proposed revisions to DSM-5 also allow of many parents of school-age children with
the diagnosis of ADHD in the presence of ADHD, even in the absence of criteria for a
autism spectrum disorders (ASDs), which was learning disability. Difficulty with verbal mem-
previously an exclusion criterion (APA, 2010). ory, listening comprehension, and organization
Children with ASDs frequently have atten- of verbal and written output occur in children
tional issues and high percentages meet DSM- with ADHD, even in the absence of specific
IV criteria for ADHD as well as an ASD (Lee & language impairments (McInnes, Humphries,
Ousley, 2006). Hogg-Johnson, & Tannock, 2003). Difficulty
reading (most often in the form of problems
with fluency, comprehension, or engagement
ASSOCIATED IMPAIRMENTS
and retention of written material) often occurs
Individuals with ADHD often have associated in students with ADHD, even in the absence of
impairments that are neither directly described a diagnosed reading disability (Ghelani, Sidhu,
by the core features of ADHD, nor indicative of Jain, & Tannock, 2004; Willicut, Pennington,
one of the common coexisting diagnoses above. Olson, Chabildas, & Hulslander, 2005).
Many children with ADHD have social apnea in individuals with ADHD, when pres-
difficulties and face peer rejection, an important ent its treatment can improve daytime somno-
risk factor for later negative outcomes. These lence, concentration, and behavioral regulation
difficulties persist even after reduction in symp- (Grueber, 2009; Konofal et al., 2010; Tsai &
toms of ADHD with stimulants or behavioral Huang, 2010).
intervention (Hoza, 2007; McQuade & Hoza, Children with ADHD also have an
2008; Nijmeijer et al, 2007). They have diffi- increased incidence of problems with motor
culty “reading” the nuances of social behavior coordination, which may impair written work
or inhibiting impulsive responses. They may in school and social participation in athletic
react excessively or overly negatively to the activities (Martin, Piek, & Hay, 2006). Half of
behavior of others, leading some peers to enjoy children with ADHD will also meet criteria for
“pushing their buttons” to get a reaction. Some developmental coordination disorder, charac-
children with ADHD have difficulty initiating terized by poor motor performance to a degree
or sustaining the verbal turn-taking or other that causes functional impairment (Cairney,
reciprocal aspects of peer relations and may Veldhuizen, & Szatmari, 2010). Impairments
find themselves passively or actively ignored in visual-spatial organization and cerebellar
and without the deeper friendships that older function are thought to be common underly-
school children begin to develop. They may be ing mechanisms for these two disorders (Piek &
inflexible or perfectionistic, leading to “bossi- Dyck, 2004).
ness” with peers. Children with ADHD tend to
overestimate their social competency and don’t CAUSES OF ATTENTION-
recognize and adjust maladaptive behavior
(Owens, Goldfine, Evangelista, Hoza, & Kai-
DEFICIT/HYPERACTIVITY DISORDER
ser, 2007). Although not well studied, there also
Genetics
appears to be a high rate of pragmatic language
difficulties in children with ADHD (Armstrong The most common etiological factor in the
& Nettleton, 2004). Pragmatic language refers development of ADHD is heredity. Siblings of
to the use of language for socially appropriate children with ADHD are between 5–7 times
communication. more likely to be diagnosed with ADHD than
Research has supported a link between children from unaffected families. Each child
ADHD and sleep disturbances (Owens, 2005). of a parent with ADHD has a 25% chance of
Children with ADHD have inconsistent sleep having ADHD (Faraone et al., 2005; Sharp,
patterns compared with controls, with greater McQuillen, & Gurling, 2009). Between 55%–
variability in sleep initiation combined with 92% of identical twins will be concordant for
shorter duration and less sleep overall (Grue- ADHD, and heritability is estimated at 76%
ber, 2009). They also have difficulty with (Faraone et al., 2005).
awakening and maintaining daytime alertness. Multiple candidate genes have been found
Although stimulant medication treatment to relate to susceptibility to ADHD including
can contribute to insomnia, sleep disturbance genes related to the dopamine, norepinephrine,
occurs in nonmedicated children with ADHD serotonin, acetylcholine, GABA, and glutamate
as well. Increased latency to sleep time (time it neurotransmitter systems, as well as genes asso-
takes to fall asleep), increased nighttime activ- ciated with neurotransmitter release and neuro-
ity, decreased rapid eye movement sleep, and immunology (see Chapter 12).
significant daytime somnolence, have all been Dopamine-related genes are candidate
identified as problematic sleep issues (Tsai & genes for investigating the basis for ADHD,
Huang, 2010). The underlying pathophysi- because a variety of types of evidence indicates
ologic mechanism that leads to the association that dopamine is involved in the modulation
between ADHD and disturbed sleep is pres- of attention and behavioral regulation in the
ently unknown although behavioral, circa- frontal cortex and its connections, particularly
dian, and genetic models have been suggested the striatum. Norepinephrine is another neu-
(Grueber, 2009; Konofal, Lecendreux, & Cor- rotransmitter that plays an important role in
tes, 2010). Furthermore, sleep disorders can orienting attention and regulating alertness in
also contribute to ADHD symptoms. There the frontal cortex and in other areas of the cor-
is an increased rate of periodic limb move- tex and lower brain. Medications that are effec-
ments and restless legs syndrome in individuals tive in ameliorating ADHD symptoms have
with ADHD. While there does not appear to consistently been shown to affect one or both of
be an increased incidence of obstructive sleep these neurotransmitters (Banaschewski, Becker,
Scherag, Franke, & Coghill, 2010; Kieling, at risk for the disorder. These include prenatal
Goncalves, Tannock, & Castellanos, 2008). exposures to cigarette smoking, lead at even low
We all have all of these genes. There are levels (Ha et al., 2009; Nicolescu et al., 2010),
a few, slightly different forms of each of these alcohol, cocaine, antidepressants (Figueroa,
genes, called alleles (see Chapter 1). In molecu- 2010), prematurity, intrauterine growth retar-
lar genetic studies of families (linkage analy- dation, brain infections, and inborn errors of
sis), a specific allele of each of these genes has metabolism (Banerjee, Middleton, & Faraone,
been found to occur at a higher frequency in 2007). Sex chromosome abnormalities (includ-
the individuals in the family who have ADHD ing Klinefelter syndrome, Turner syndrome,
than can be explained by chance alone. Differ- and fragile X syndrome) and other syndromes
ent alleles tend to be present in those individu- that may be inherited or genetic (e.g., neurofi-
als within the family who do not have ADHD. bromatosis type 1, Williams syndrome, 22q11
This suggests that specific alleles of these genes deletion syndrome; see Appendix B) are asso-
may confer susceptibility to ADHD and can be ciated with attention problems or overactivity/
used to identify candidate genes that we suspect impulsivity (reviewed by Lo-Castro, D’Agati, &
in ADHD. Curatolo, 2010). In children who do not have a
Those genes that have been found to be family history of ADHD, there is an increased
associated with ADHD in more than one study incidence of complications during labor, deliv-
sample include the dopamine transporter, the ery, and infancy (Sprich-Buckminster, Bieder-
dopamine type 4 and 5 receptors, dopamine man, Milberger, Faraone, & Lehman, 1993).
beta hydroxylase (an enzyme which is involved Premature infants with evidence for low cere-
in the conversion of dopamine to norepineph- bral blood flow were found at 12–14 years of
rine), the serotonin transporter, the serotonin age to have an increased risk for ADHD and
1B receptor subtype, tryptophan hydroxylase (a motor reaction time impairments that were
precursor to serotonin), and SNAP-25 (synapto- associated with alterations in dopamine type 2/3
somal-associated protein), a membrane protein receptor binding. This suggests that cerebral
involved in synaptic release of neurotransmit- ischemia may contribute to long-term changes
ters (Banaschewski et al., 2010; Franke, Neale in dopamine neurotransmission that are related
& Faraone, 2009; Sharp et al., 2009). to ADHD motor and behavioral symptoms
The genes thus far identified do not (Lou et al., 2004). Children who undergo sur-
account for the majority of the variation in gery for congenital heart disease also may have
ADHD symptoms, however, suggesting that decreased cerebral blood flow and have a higher
other as yet unidentified genes are important. risk for subsequent attention problems (Shil-
Genome wide association studies (GWAS) using lingford et al., 2009). Other large studies of
advances in genetic technology developed over premature children confirm the increased risk
the last 5 years assess variants throughout the for ADHD with low birth weight and prematu-
entire genome that are associated with ADHD. rity (Delobel-Ayoub et al., 2009; Indredavik et
More recent GWAS also implicate genes al., 2005). Acquired traumatic brain injury can
involved in neuronal migration and plasticity, also result in ADHD symptoms and exacerbate
cell adhesion, and division (Banaschewski et al., predisposing behavioral traits (Chapman et al.,
2010). 2010; Yeates et al., 2005).
Specific genotypes that are associated with
ADHD are being explored to assess their rela- Structural and Functional
tionship to associated diagnoses and impair- Differences in the Brain
ments, persistence of symptoms, treatment Multiple lines of evidence suggest that structural
response, and outcome (Froehlich, McGough, and functional differences exist in the brains of
& Stein, 2010). Epigenetic phenomena (gene- individuals with ADHD (Kelly, Margulies, &
environment interactions) may also play a role Castellanos, 2007; Makris, Biederman, Monu-
in the clinical phenotype of ADHD (Franke et teaux, & Siedman, 2009). Magnetic resonance
al., 2009; Kieling et al., 2008; see Chapter 1). imaging (MRI) scans have shown important dif-
ferences when the shape, thickness, and volume
Other Etiologic Factors of specific areas are compared. Five regions
Although the most common etiology of ADHD have shown consistent differences—frontal
is genetic, other conditions known to affect lobes, including the dorsolateral prefrontal
brain development may result in ADHD symp- cortex and dorsal anterior cingulate cortex,
toms or increase the risk of those genetically inferior parietal cortex, basal ganglia, including
the caudate nucleus and globus pallidus, corpus midbrain and striatum in children. In both adults
callosum (particularly anteriorly), and the pos- and children, studies report increased dopamine
terior inferior cerebellar vermis. Networks in receptor availability and increased binding to the
the frontal cortex serve as the “executive cen- dopamine transporter (Zimmer, 2009).
ter,” processing incoming stimuli, connecting Structural and functional imaging scans
to other structures and coordinating appropri- are presently important research tools, but they
ate cognitive, emotional, and motor responses have not been shown to be sufficiently sensitive
(Arnsten, 2009). The cerebellum and basal gan- or specific to be used diagnostically (American
glia are thought to be involved because these Academy of Pediatrics, 2011; Bush 2008; Glan-
areas are critical to motor planning, behavioral zman & Elia, 2006).
inhibition, and motivation. Compared with
controls, these regions are 3%–4% smaller in
THE EVALUATION PROCESS
subjects with ADHD, involve both gray and
white matter, and are present early in childhood Evaluating a child for ADHD requires assess-
(Makris et al., 2009; Shaw & Rabin, 2009). ment of four areas: 1) symptoms of ADHD;
Studies of the amygdala and hippocampus, part 2) different conditions that might cause the
of the limbic system, have also shown anomalies same symptoms; 3) coexisting conditions; and
in shape and volume in children with ADHD 4) any associated medical, psychosocial, or
(Shaw & Rabin, 2009). learning issues that may not reach the thresh-
Functional magnetic resonance imag- old for a specific diagnosis but may nonethe-
ing (fMRI) is a noninvasive technique that is less influence the treatment plan. In order to
used to evaluate variations in regional oxygen cover these four areas, a comprehensive his-
uptake in the brain, which correlates with cel- tory, physical/neurological examination, and
lular activity. fMRI studies indicate that sub- academic assessment must be completed.
jects with ADHD have hypoactivation of the Findings in these examinations may prompt
prefrontal cortex, parietal cortex, cerebellum, additional investigations, including consulta-
and caudate nucleus, and that stimulant medi- tion from specialists.
cation can increase activation in these areas The history, generally taken from the
(Casey, Nigg, & Durston, 2007). In particular, parents, with the child’s participation depend-
the dorsal anterior cingulate cortex and stria- ing on age, includes current status and con-
tum are repeatedly shown to have hypofunc- cerns, previous treatments and their effects,
tion/hypoperfusion in children and adults with prenatal and perinatal events, medical history,
ADHD. This is consistent with structural and developmental, psychiatric and behavioral his-
neuropsychological findings. Differences in the tory, educational course, social and family cir-
activation of the temporal and parietal cortex as cumstances, and biological family history for
well as the thalamus are more recent areas of ADHD symptoms and associated disorders.
investigation (Kelly et al., 2007). The main pediatric and child psychiatric pro-
Positron emission tomography (PET) and fessional organizations—the American Acad-
single photon emission tomography (SPECT) emy of Pediatrics (AAP) and the American
scans provide information about brain neu- Academy of Child and Adolescent Psychiatry
rotransmitters but are more invasive, involving (AACAP)—provide guidelines for the assess-
injection of a radioactive tracer molecule and ment of ADHD, and both emphasize the
so have limited use in children. PET/SPECT importance of adhering to the DSM-IV-TR
scans provide information about regional perfu- diagnostic criteria. Information from teach-
sion, oxygen and glucose metabolism, or about ers, typically in the form of standardized rating
a particular neurotransmitter system. This pro- scales, should be included to document impair-
vides neurochemically specific regional informa- ment in the school setting (AACAP, 2007; AAP,
tion. Early studies indicated globally decreased 2011).
glucose metabolism in children with ADHD. The medical examination should focus on
Multiple studies in children and adults docu- growth parameters and physical signs of sensory,
ment underperfusion of frontal-striatal regions, genetic, chronic medical, and neurologic disor-
though the specific findings within these areas ders, as well as mental status, informal commu-
differ among studies (Glanzman, 2006; Glan- nicative ability and insight, and motor skills.
zman & Elia, 2006). Several studies document Educational testing (including intellectual,
abnormalities in the fronto-striatal dopamine achievement, and processing measures) will be
system, including alterations in dopamine uptake necessary for many children and should focus on
in the prefrontal cortex in adults and right the careful assessment for learning disabilities,
memory and processing, and areas of academic limit access to a thorough evaluation for many
weakness that may not meet criteria for a learning children (Rushton, Fant, & Clark, 2004).
disability. Additional support may allow the child
to make better academic progress rather than fall-
ing further behind. This should include assess- TREATMENT OF ATTENTION-
ments of reading mechanics and comprehension, DEFICIT/HYPERACTIVITY DISORDER
spelling, mathematical concepts and computation,
Most treatment plans for ADHD will include
and writing. Tests of verbal and visual memory
education about the disorder and one or more
and processing efficiency can be useful in identify-
of the following interventions: behavioral and
ing reasons for intellectual achievement discrep-
family counseling, special education services,
ancies and can inform choices about educational
and medication. Often a combination of treat-
remediation strategies.
ments is used because of the chronicity and
Obtaining information about symptoms of
multiple types of impairment caused by ADHD
ADHD and related conditions, comparing the
(AAP, 2001).
level of symptoms to age- and gender-matched
peers, and assessing the level of functional
impairment is frequently facilitated by the use
Education About Attention-
of standardized interview formats and rating Deficit/Hyperactivity Disorder
scales for parents and teachers. In addition, and Emotional Support for Families
rating scales designed for teachers allow the Parents and older children need to learn as
required collection of information from more much as possible about ADHD so that they
than one setting. Commonly used rating scales can be effective decision makers and advocates.
to specifically assess ADHD symptoms include The clinician can provide some information
the ADHD-IV Rating Scale, the Conners Rat- directly but should also guide the family toward
ing Scales, the SNAP, and the Vanderbilt Rat- resources such as national support and advocacy
ing Scale (AACAP, 2007; AAP, 2000; Pelham et organizations, books and online resources, and
al., 2005). parent support groups (see Appendix D). Grow-
Structured diagnostic interviews are quite ing up with and parenting a child with ADHD
time-consuming and require training for stan- are significant challenges. Although providing
dardized administration; therefore, they are emotional support alone is not likely to result
most often used in psychiatric and research set- in significant improvements, without emotional
tings. Commonly used structured diagnostic support parents and children may not be able
interviews include the Diagnostic Interview for to perform the difficult work needed to address
Children and Adolescents, Revised (DICA-R), the consequences of ADHD.
the Diagnostic Interview Schedule for Children
(DISC), and the Kiddie Schedule for Affective Behavioral Counseling
Disorders and Schizophrenia (K-SADS; Pel-
ham et al., 2005).
and Social Skill Intervention
Because comprehensive information is Behavior therapy is the type of counseling
required, several professionals are typically intervention with the best documented efficacy
involved (e.g., physician, psychologist, teacher). in preschoolers (Greenhill et al., 2008; Murray,
The primary person responsible for formulat- 2010) and school-age children (Young & Ama-
ing the diagnosis and communicating the find- rasinghe, 2010) with ADHD, especially if there
ings and recommendations to the family must are additional disruptive behaviors (Eyberg,
be experienced with the range of coexisting Nelson, & Boggs, 2008). Studies also suggest
conditions. This person is typically a physician efficacy of behavior therapy in adolescents with
(pediatrician, neurodevelopmental or devel- ADHD, though additional psychosocial inter-
opmental-behavioral pediatrician, neurologist ventions are more often necessary in this age
and/or psychiatrist) or psychologist. Additional group (Robin, 2008; Young & Amarasinghe,
professionals, such as speech-language patholo- 2010). Behavior therapy changes behavior by
gist and occupational therapists, may be asked altering the antecedents to, or consequences
to provide input. While such a complex evalu- of, the behavior in such a way that it increases
ation can be coordinated through a primary the chances that the child will successfully
care setting, there are also a number of barri- engage in the desired behaviors and reduces the
ers related to knowledge, time, resources, and chances that the child will engage in unwanted
medical/mental health insurance coverage that behaviors (see Chapter 32).
Behavior therapy can be done in individual Coaching is an emerging approach to

or group sessions and forms the basis for most improve the daily functioning of teens and
parent training and classroom management adults with ADHD. It involves regular meet-
programs for children with ADHD. Studies ings between the individual with ADHD and
have consistently found that these interventions his or her coach to identify executive func-
result in at least short-term improvements in tion impairments leading to problems in daily
the behavior (Pelham & Fabiano, 2008; Young functioning and to develop systems and strate-
& Amarasinghe, 2010) and homework problems gies to address them. Coaching is most likely
(Langberg et al., 2010) of children with ADHD. to be successful when the individual recognizes
A study of a very intensive behavioral interven- the problems and wishes to address them but
tion that also included social skill-building and cannot seem to do it without help. It does not
emotional support found some persistent ben- address core symptoms of ADHD, coexisting
efit from this intervention 15 months after the conditions, or motivational or emotional prob-
intervention ended (MTA Cooperative Group, lems. Coaches are typically psychologists, edu-
2004a); however, this level of treatment inten- cators, social workers, or successful adults with
sity in unlikely to be widely available (Young & ADHD. A recent positive step in the field has
Amarasinghe, 2010). Factors that may inter- been the development of professional standards
fere with successful parent training in behavior and certification procedures (Murphy, Ratey,
management include parental depression or Maynard, Sussman, & Wright, 2010).
ADHD, high levels of marital discord (Chronis, Interpersonal difficulties such as peer vic-
Chacko, Fabiano, Wymbs, & Pelham, 2004), timization (bullying) and/or social isolation are
low maternal parental self-efficacy, and mul- common in individuals with ADHD (Hoza,
tiple coexisting conditions in the child (van den 2007; Nijmeijer et al., 2007); thus social-skill
Hoofdakker et al., 2010). interventions may be recommended as part of
There is insufficient evidence to recom- a comprehensive treatment plan. Social skill
mend family therapy as a specific treatment groups are often conducted in school or other
for core ADHD symptoms (Bjornstad & Mon- group settings and teach by modeling, practic-
togomery, 2005); however, disruptive behavior ing, and reinforcing prosocial behaviors. When
can lead to increasingly negative and coercive social skills interventions for children with
patterns of parent–child interaction (Deault, ADHD are evaluated as a single intervention,
2010). Family therapy can help to mitigate the however, the results have generally been disap-
effects of parenting a child with ADHD on the pointing (Abikoff et al., 2004; Barkley, 2004).
marital relationship and sibling interactions. It seems that children “know” or can be taught
Family therapy may be necessary when parents appropriate skills but do not apply them when
cannot agree on an intervention plan or other needed. The social skills interventions that seem
family stressors interfere with implementation to be the most effective are conducted in natural-
of a treatment plan. istic settings (i.e., at a camp or school rather than
Cognitive-behavior therapy changes behav- in a clinic) and are combined with behavioral
ior by helping individuals to change self-defeating parent training (Pelham & Fabiano, 2008).
thought and behavior patterns. It is a well-docu-
mented treatment for depression and anxiety Educational Treatment
and has recently been shown to be effective in Appropriate school programs are extremely
the treatment of adult ADHD (Safren et al., important for children with ADHD, many of
2010; Solanto et al., 2010; Young & Amaras- whom have coexisting learning disabilities.
inghe, 2010). Children and teens with ADHD Even those children without a specific learn-
frequently hold negative or inaccurate attribu- ing disability may require substantial repetition
tions that can interfere with the use of produc- or alternate methods of instruction. Unfor-
tive strategies to face challenges. Whether or tunately, their difficulty in sustaining mental
not cognitive-behavior therapy will be effec- effort and their weak working memory often
tive in teens and older children with inaccurate result in resistance to the repeated practice they
attributions or other unproductive thought and require. A well-trained teacher who is able to
behavior patterns is just beginning to be stud- provide special help and an educational pro-
ied. Individual psychotherapy or play therapy gram suited to the needs of the child is invalu-
may be helpful for children with coexisting able to the student with ADHD. The teacher
mood, anxiety, or self-esteem problems but is may need to use environmental modifications
not effective in treating the core symptoms of and behavior management techniques to main-
ADHD (Barkley, 2004). tain the child’s attention to tasks and decrease
unwanted behavior. The child may need the for ADHD. Atomoxetine and sustained-release
teacher’s assistance to develop organizational guanfacine and clonidine are the only nonstim-
skills and support comprehension. Classwork ulant medications approved by the Food and
or assignments may need to be modified to Drug Administration (FDA) for the treatment
emphasize the child’s strengths, help manage of ADHD. Non–FDA-approved medications
the child’s learning weaknesses or disabilities, that have been used to treat ADHD include
and compensate for problems with initiation antidepressants (bupropion and tricyclics) and
or slow work production. Tutoring outside immediate-release or short-acting guanfacine
of school will be helpful in some cases, espe- and clonidine. Combinations of medications
cially to ensure that basic concepts that serve are also used, though research lags behind prac-
as building blocks for more advanced work tice in this area. See Appendix C for informa-
have been learned thoroughly and that effec- tion on medication dosages and side effects.
tive approaches are used for comprehension,
memorization, studying for tests, and organiz- Stimulant Medication
ing written work and materials. Stimulant medications, including methylphe-
When children with ADHD are in need of nidate and amphetamine (see Table 22.2) have
more assistance than is typically provided in the been used for the treatment of children with
classroom, they may qualify for modification disruptive behaviors for over 60 years and have
within their general education classes or in spe- been more frequently used and more thor-
cial education settings under either Section 504 oughly studied than any other psychopharma-
of the Rehabilitation Act of 1973 (PL 93-112 cologic treatment in children. In the United
Section 504) or the Individuals with Disabili- States, approximately 1 in 25 children and ado-
ties Education Act [IDEA](Education for All lescents take medication for ADHD (Scheffler,
Handicapped Children Act of 1975, PL-94-142 Hinshaw, Modrek, & Levine, 2007). Stimu-
see Chapter 31). lants are statistically more effective than non-
A child with ADHD who needs modifi- stimulant options (Biederman, Wigal, Spencer,
cation of curricular materials, demands, or McGough, & Mays, 2006) and appear to work
teaching methods should have an individual- equally well in the inattentive and combined
ized education program (IEP; http://www. subtypes (Solanto et al., 2009), in boys and
idea.ed.gov). Although ADHD is not one of girls, and from early school-age through adult-
the disabilities specifically included under hood (Cornforth, Sonuga-Barke, & Coghill,
IDEA, some children with ADHD will have 2010). Preschoolers appear to have a somewhat
an IEP under a coexisting condition such as less beneficial effect/side effect ratio than older
specific learning disability, speech-language children (see Stimulants in Preschoolers).
impairment, or emotional disturbance. Others
will be provided an IEP under the IDEA cate- Beneficial Effects
gory of “Other Health Impaired.” A child with Stimulant medications significantly reduce
ADHD who is less educationally impaired symptoms in 70%–90% of children and adoles-
by his or her symptoms may still be eligible cents correctly diagnosed with ADHD (Wigal,
for accommodations through a “Section 504 2009). They result in a rapid and often dramatic
Plan” (http://www2.ed.gov/about/offices/list/ improvement in attention and distractibility
ocr/504faq.html). Accommodations allow the and a decrease in impulsivity and hyperactivity.
child with ADHD to successfully “access” In addition, they improve academic productiv-
the regular education environment and may ity and accuracy, improve parent–child interac-
include (but are not limited to) regular home– tions, and decrease aggression. Stimulants also
school communication; a behavior program improve driving performance in adolescents
to support desired behaviors; a plan to insure and young adults with ADHD (Barkley & Cox,
that the student understands and is following 2007). The effect of stimulants on academic
through on instructions; modifications of test- achievement and executive function is modest
ing time, format, or environment; an extra set compared with their effects on behavior, indi-
of materials at home; and technological assis- cating that additional interventions are needed
tance such as the use of recording devices and in these areas (Jitendra, DuPaul, Someki, &
word processors. Tresco, 2008; MTA Cooperative Group, 2004a,
b; Raggi & Chronis, 2006). The positive effects
Pharmacological Treatment of stimulants on executive function appear to be
Stimulant medications are the most effective limited to those measures most related to atten-
and most commonly prescribed medications tion and verbal learning; whereas measures
of interference control, processing speed, is not diagnostic of ADHD, since individuals

and organization/planning remain impaired with other psychiatric or developmental disor-
(Abikoff et al., 2009; Biederman, Monuteaux, ders, as well as controls, display similar effects
et al., 2008). Stimulants have “normalizing” when given stimulant medication (Rapaport et
effects on biological parameters that differen- al., 1978).
tiate individuals with ADHD from controls,
including activation patterns in corical-striatal- Formulations
cerebellar attentional networks, basal ganglia Methylphenidate and amphetamine come in
surface morphology, and event-related brain a variety of formulations as shown in Table
(electrical) potentials (Bush et al., 2008; Ozdag, 22.2. The beneficial effects and side effects of
Yorbik, Ulas, Hamamcioglu, & Vural, 2004; these two types of stimulants are nearly iden-
Rubia et al., 2009; Sobel et al., 2010). tical, although 30%–40% of children may
Although beneficial effects on behavior respond better to one medication than the
are very clearly demonstrated in short to inter- other (May & Kratochvil, 2010). A recent
mediate term studies, the long-term efficacy of meta-analysis indicates that amphetamine may
stimulants is not nearly as well studied (May & improve symptoms to a slightly greater degree
Kratochvil, 2010; See Outcome). It should also than methylphenidate, but tolerability was
be noted that response to stimulant treatment not taken into account (Faraone & Buitelaar,
Table 22.2. Stimulant medications commonly used to treat attention-deficit/hyperactivity disorder

Generic name Usual duration of Dosages
Brand name of active medicine action (hours) available (mg) Other
Ritalin D,L-methylphenidate 3–4 Tablets–5, 10, 20
Focalin D-methylphenidate 3–4 Tablets–2.5, 5, Contains only the active isomer of
10 methylphenidate; typical dose is
½ that of D,L-methylphenidate
Focalin XR D-methylphenidate 8–12 (12 for 20 Capsules–5, 10, Capsule can be opened and
mg dose) 20, 30 sprinkled
Methylin D,L-methylphenidate 3–4 Tablets–2.5, 5, Tablets are grape flavored and
10 chewable
Suspension–5
mg/5ml and
10mg/5ml
Metadate D,L-methylphenidate 6–8 Capsules–10, 20, Capsule can be opened and
CD 30, 40, 50, 60 sprinkled
30% of dose immediately
released
Ritalin LA D,L-methylphenidate 6–8 Capsules–10, 20, Capsule can be opened and
30, 40, 50, 60 sprinkled
released
Concerta D,L-methylphenidate 10–12 Capsule–18, 27, Must be swallowed whole
36, 54 22% of dose immediately
released
Daytrana D,L-methylphenidate Up to 12 Patch–10, 15, Duration depends on timing of
20, 30 removal
Dexedrine Dextroamphetamine 3–6 Tablet–5
Dexedrine Dextroamphetamine 6–8 Capsule–5, 10,
Spansules 15
Adderall Mixed salts of 3–6 Tablets–5, 7.5,
amphetamine 10, 12.5, 15,
20, 30
Adderall XR Mixed salts of 8–10 Capsule–5, 10, Capsule can be opened and
amphetamine 15, 20, 25, 30 sprinkled
released
Vyvanse Lisdexamfetamine 12 Capsule–20, 30, Inactive until lysine cleaved from
40, 50, 60, 70 amphetamine in the gastroin-
testinal tract
2010). Amphetamine-based stimulants are typi- such as gastroesophageal reflux, gastritis, or

cally given at half to two thirds the dose of the other inflammatory condition. Treatment of
methylphenidate-based stimulants to account the underlying condition may then allow such
for differences in the potency of the two medi- children to tolerate pharmacologic treatment
cations. Likewise, dex-methylphenidate, the for ADHD. Less common but potentially more
isolated, more effective d-isomer, has approxi- problematic side effects include “rebound”
mately twice the potency of d,l-methylpheni- effects, tics, and social withdrawal. Rebound
date and is given at approximately half the dose. refers to a temporary worsening of symptoms,
Lisdexamfetamine is the only prodrug formula- including irritability, increased activity, and/or
tion, requiring cleavage of the attached lysine mood swings, when the medication wears off.
by gastrointestinal enzymes for activation. Although it is estimated that 30% of school-
The onset of action of immediate-release age children experience some rebound effects,
forms of methylphenidate and amphetamine they are significant enough to require altering
is usually within 30 minutes of taking the the medication regimen in only about 10%
dose. Based on the technology used to extend of cases (Carlson & Kelly, 2003). Preliminary
the duration of release, different formula- results suggest that some young adults may
tions vary in how much of the medication is have increased driving errors during rebound
released immediately and time to onset, how (Cox et al., 2008). Some children do become
the remainder is released (in a later bolus versus withdrawn on stimulant medication. This may
continuously), and duration of effect. Although improve with dose adjustment or switching to
Table 22.2 gives the typical duration of effect another medication. The best ways to mitigate
for the various formulations, there is significant medication side effects is an area that has not
variation among individuals. The methylphe- been systematically researched and is typically
nidate patch is the only formulation that gives based on common clinical experience rather
individuals the capacity to vary the duration of than scientific evidence.
action on a daily basis (up to 12 hours) based on Tics have been reported to occur in approx-
the timing of patch removal (Shire Pharmaceu- imately 10% of children treated with stimulants
ticals). (Lipkin, Goldstein, & Adesman, 1994), but
they have also been reported in a similar per-
Side Effects centage of community control samples (22%
The most common adverse effects of stimulants of preschoolers, 8% of elementary school chil-
are decreased appetite, headaches, stomach- dren, and 3.4% of adolescents; Gadow & Sverd,
aches, and sleep problems (May & Kratochvil, 2006). Early reports suggested that stimulants
2010; Wigal, 2009). As headaches, stomach- induced or exacerbated tics, but more recent
aches, and sleep problems are common in research indicates that this is less common
untreated children with ADHD, it is impor- than originally thought (Gadow & Sverd, 2006;
tant to determine the nature and frequency of Palumbo, Spencer, Lynch, CoChien, & Fara-
these symptoms prior to starting the medica- one, 2004). In addition, tics that appear to be
tion. Preexisting sleep problems predict sleep stimulant-induced or exacerbated usually sub-
problems on long-acting methylphenidate; side with time, after the dose is reduced, or
however, they may not be substantially differ- when treatment is discontinued. In rare cases,
ent than in children receiving placebo (Faraone tics that appear to have been induced by stimu-
et al., 2009). Decreased appetite is reported in lants do not resolve, or may even worsen over
50%–60% of children, but it is typically lim- time. Given that tics and ADHD commonly co-
ited to lunchtime hours, with compensation at occur (Denkla, 2006; Gadow & Sverd, 2006),
breakfast and dinner. A much smaller percent- it is possible that those individuals whose tics
age of children have more extensive appetite appear to be induced by stimulants have a bio-
suppression and weight loss. These children logical predisposition to develop tics.
may benefit from caloric and nutrient supple- Growth velocity slows by approximately
mentation to prevent weight loss and maintain 1.2 cm/yr on average in prepubertal children
adequate nutrition, or they may be able to eat during at least the first 2 years of continuous
in between doses of shorter-acting formula- treatment with stimulants (MTA Coopera-
tions. Appetite suppression and dyspepsia will tive Group, 2004b). In preschoolers, growth
prevent some children from tolerating stimu- was 20% less and weight gain 55% less than
lants or atomoxetine. It may be that this minor- expected over the first year of treatment (Swan-
ity has an underlying gastrointestinal condition son et al., 2006). When school-age children
that renders them prone to related side effects, are followed for up to 3 years, however, slowed
growth rates tend to stabilize, though growth Potential for Substance Abuse
rebound does not occur (Swanson et al., 2007).
Stimulants are classified as controlled sub-
Short- to intermediate-term treatment does
stances by the Drug Enforcement Agency
not seem to have a significant effect on adult
(DEA). When injected or taken intranasally
height (Faraone, Biederman, Morley, & Spen-
they can produce a “high.” However, oral stim-
cer, 2008); however, continuous treatment into
ulants for ADHD do not induce euphoria or
adulthood has not been studied.
dependence due to their relatively slow uptake
Other side effects include elevations of
into the brain (Volkow & Swanson, 2003). The
pulse or blood pressure, and rarely, activa-
use of slow release forms, in which the medica-
tion of mania or psychosis. Methylphenidate,
tion is mixed with other substances and released
amphetamine, and atomoxetine all cause statis-
slowly, makes abuse even less likely to occur
tically, but rarely clinically significant increases
(Faraone & Upadhyaya, 2007).
in pulse, blood pressure and corrected QT
While prescribed stimulants are relatively
interval on the EKG (prolonged QTc interval
ineffective for producing euphoria, diversion of
is a risk factor for serious arrhythmia; Elia &
stimulants for the purpose of staying awake for
Vetter, 2010; Hamerness, Wilens, et al., 2009;
prolonged periods of study or other activities
Silva, Skimming, & Muniz, 2010). Significant
is much more common. Approximately 7% of
elevations are so rare that they should prompt
college students report using stimulants that
an investigation for underlying medical causes
were not prescribed to them for ADHD in this
that may be exacerbated by the medication.
manner (DuPaul, Weyandt, O’Dell, & Varejao,
Recent reports of sudden death in children
2009; Setlik, Bond, & Ho, 2009). Coaching
on stimulants raised concerns that stimulants
adolescents about managing their medication
might be causative, but careful review showed
before they go to college, and providing antici-
that approximately two thirds of the cases had
patory guidance about how they will manage
previously undetected cardiac abnormalities.
requests from peers to share their medication,
The Food and Drug Administration (FDA) and
are important aspects of clinical practice for
Health Canada have recommended that stimu-
prescribing physicians.
lants not be used in individuals with known
ADHD has been shown to be a risk factor
heart disease such as structural heart problems,
for later substance use disorders, most clearly in
rhythm abnormalities, and hypertension. Rel-
the presence of conduct disorder (Biederman,
evant professional organizations in pediatrics,
Monuteaux, Spencer, Wilens, & Faraone, 2009;
psychiatry, and cardiology are in agreement
Merkel & Kuchibhatla, 2009). However, mul-
about the importance of a careful personal and
tiple studies indicate that the use of stimulant
family history for risk factors for sudden death.
medication does not increase this risk (Bieder-
These include palpitations, syncope or near-
man et al., 2009; Mannuzza et al., 2008), and
syncope, the presence of congenital structural
may, in some cases, be protective (Katusic et al.,
abnormalities, hypertrophic cardiomyopathy,
2005).
Marfan syndrome, long QT syndrome, and
Given the high rate of comorbidity of
Wolff-Parkinson-White syndrome. During
ADHD and substance abuse, physicians will
treatment, there should be regular monitoring
need to consider how to best treat such indi-
of interim cardiovascular history, including con-
viduals. Current recommendations include
comitantly used medications with cardiovascu-
psychosocial treatments for both ADHD and
lar effects, and pulse and blood pressure checks
substance abuse, careful monitoring, and phar-
(Vetter et al., 2008; Warren et al., 2009). In the
macological treatment of ADHD with a non-
absence of risk factors, the value of additional
stimulant. However, the use of a long-acting
cardiac assessment or monitoring is unclear and
stimulant when the nonstimulants are ineffec-
controversial at this time. Though it appears
tive can be considered (Schubiner, 2005; Upad-
that stimulants can increase the vulnerability to
hyaya, 2007; Wilson, 2007).
serious cardiac events in those already vulnera-
ble as a result of underlying cardiac disease, the
Initiating and Monitoring Therapy
relative risk to those without underlying cardiac
disease appears so low that treatment of ADHD Medication should be but one part of a com-
should not be withheld in the absence of risk prehensive treatment plan (AACAP, 2007).
factors (Elia & Vetter, 2010; Newcorn & Don- Considerations regarding medication include
nelly, 2009). duration of coverage needed, specific targets for
improvement, and any previous treatment expe- should be monitored at baseline, after medica-
rience. In most circumstances, a stimulant will tion or dose adjustments, and at regular inter-
be used as a first-line agent (AAP, 2001). School vals (typically every 3–6 months) to assure
day (8–9 hours) or 12-hour coverage options continued beneficial responses and the absence
exist in both stimulant categories. Immediate- of significant adverse effects. No specific labo-
release products lasting 3–5 hours may be used ratory tests are indicated as part of the moni-
after school on certain days: 1) if 12-hour cover- toring. Clinical history and exam may lead a
age is not required on a daily basis; 2) if shorter clinician to order tests to rule out abnormalities
weekend coverage is desired; or 3) in the morn- that may coexist, exacerbate symptoms, limit
ing with a long-acting formulation, if it reaches effectiveness of medication treatment, or relate
an effective level too slowly to be effective for to observed side effects. These include ferritin
the first class. Optimal dose is determined by the (iron binding protein) and thyroid hormone
effectiveness and side effects profile and is best levels, celiac panel, sleep study, electroencepha-
determined by a dose titration protocol so that lography (EEG), and bone age x ray. During
a variety of dosage levels can be evaluated. Dur- childhood it is important to periodically assess
ing a dose titration protocol, it is important for whether medication is still providing a benefit.
parents, students, and teachers to have sufficient Since most children will continue to benefit
opportunity to observe for effects and side effects throughout their school years, it is important to
and to provide feedback. Typically, a new medi- consider with parents and teachers how to best
cation or dose will be started on the weekend, do such an assessment without substantially
so parents have the opportunity to monitor their compromising the student’s functioning, if the
child before sending him or her to school, and medication is still helpful.
each dose will be monitored for a week. Stan- As children become adolescents and young
dardized rating scales should be obtained before adults, additional targets for medication man-
starting and at the end of the week on each agement become important that make a longer
dose. Most standardized rating scales focus on duration of coverage relevant. These include
the core symptoms or DSM-IV-TR criteria. It is more hours spent doing homework and extra-
also helpful to obtain feedback about functional curricular activities, after-school jobs, the
changes in the areas of completion of activities requirement for social decision making with
of daily living, quality of social interaction, and increasingly serious implications, and the need
academic accuracy and productivity. When par- for consistent concentration while driving.
ent and teacher rating scale results do not agree, Driving performance (but not knowledge) has
it is important to consider reasons for this. It may been shown to be impaired in individuals with
signal additional diagnoses or symptoms and the ADHD, and effective medication treatment has
need for additional interventions such as parent been shown to improve performance (Barkley
training or specialized instruction. If a child does & Cox, 2007).
not respond or has significant side effects on one
stimulant, it is reasonable to try a stimulant from Stimulants in Preschoolers
the other class (methylphenidate versus amphet- Stimulants have been used increasingly in chil-
amine; AACAP, 2007). Sometimes, a child will dren 3–5 years of age. The range of effective
show a better response to one formulation or doses in mg/kg is similar to that found in school-
release pattern over another, even within the age children, but the percentage of preschool
same stimulant category; and some children who children having a beneficial response may be
do not tolerate or respond to either stimulant slightly lower than in elementary school-age
category may respond to atomoxetine. Certain children, and side effects, particularly adverse
side effects, such as prominent tics, significant emotional reactivity and growth rate reductions,
anxiety, and persistent irritability may lead to may be more common (Kratochvil, Green-
consideration of a nonstimulant trial, or medica- hill, March, Burke, & Vaughn, 2004; Swanson
tion combination. Lack of response to a series et al., 2006; Wigal et al., 2006). Effectiveness
of rationally considered trials should prompt was maintained over 10 months of follow up,
a reevaluation of the diagnosis, evaluation for but with an almost 50% dose increase required
coexisting conditions, and an assessment of com- (Vitiello et al., 2007). Although methylpheni-
pliance and other medical or psychosocial fac- date has been studied more frequently than dex-
tors that may interfere with effective treatment troamphetamine or mixed salts of amphetamine
(AACAP, 2007; AAP, 2001). in preschool children with ADHD, methylphe-
School achievement, behavior, relation- nidate is not FDA approved for children under
ships, mood, vital signs, and growth velocity 6 years of age, while the amphetamine products
are approved for children over 3 years of age. benefits of atomoxetine may exceed effects on
Typically, immediate-release methylphenidate core symptoms to include improvements in
up to three times daily has been the treatment reading and executive function skills (Maziade
regimen used in most studies; thus there is little et al., 2009).
information about the use of long-acting formu- Atomoxetine may take a few days before
lations in preschoolers. Preliminary open-label one begins to see effects and several weeks to
studies suggest effectiveness for a longer-acting reach the maximum effect. Similarly, beneficial
beaded methylphenidate formulation (Maayan effects may dissipate gradually when it is dis-
et al., 2009). Behavior management training is continued, and some children remain improved
recommended as a first-line treatment for pre- over baseline (Buitelaar et al., 2007); there is no
schoolers, although only about 13% of families adverse effect of abrupt discontinuation (Wer-
enrolled in a recently completed, large multisite nicke et al., 2004). It is generally given once daily
study of ADHD treatment in preschoolers felt in the morning but can be given twice daily to
that it was sufficient (Greenhill et al., 2006). extend coverage into the evening. Fatigue and
gastrointestinal upset are relatively common
Nonstimulant side effects, but atomoxetine is unlikely to cause
Medications for Attention- sleep disturbance. Gastrointestinal upset is typ-
Deficit/Hyperactivity Disorder ically prevented by giving the medication with
food; foods containing protein or fat are par-
Between 10%–30% of children with ADHD will ticularly effective for this purpose. Some chil-
not benefit from stimulants or will have adverse dren experience weight loss during the first few
side effects that preclude their use. Nonstimu- months of treatment, but the average reduction
lant medications may be helpful in this group. in height and weight percentiles was maximal
These medications fall into three categories: after 18 months of continued use, was about 2%
norepinephrine reuptake inhibitors, antidepres- at 2 years, and resolved by 5 years in all except
sants, and alpha-2-adrenergic agonists. the largest children (Spencer, Kratochvil, et
al., 2007). Other side effects include dizziness,
Norepinephrine Reuptake Inhibitors irritability, somnolence, and allergic reactions.
Atomoxetine is the only norepinephrine reup- Increases in pulse and blood pressure do occur,
take inhibitor that is FDA approved for the but these are typically not clinically significant.
treatment of ADHD (in individuals 6 years Other, more significant cardiovascular events
of age and over). It is, however, less often effec- have not been reported. Prescribing informa-
tive than extended-release methylphenidate or tion includes a black box warning about the
amphetamine (Garnock-Jones & Keating, 2009). increased risk of suicidal ideation, thus moni-
At least 11 double-blind, placebo-controlled trials toring for depression, mood instability, and
in children, teens, and adults have demonstrated behavioral activation is critical. Atomoxetine is
that atomoxetine improves parent and teacher metabolized by cytochrome P450 (CYP2D6),
rating of attention and decreases their rat- and levels may be affected in individuals who
ings of hyperactivity and impulsivity at doses are rapid or slow metabolizers, and by other
of 1.2–1.4 mg/kg/day. Benefits persist in the medications that inhibit CYP2D6. Although
absence of serious adverse effects for 2–4 years genotyping for these variants is not currently
(the longest duration thus far reported) without a routine practice, dose reduction should be
development of tolerance, or progressive inef- considered in those with prominent early side
fectiveness over time (Donnelly et al., 2009; effects (ter Laak et al., 2010).
Garnock-Jones & Keating, 2009; Kratochvil
et al., 2006). It is effective for ADHD in chil- Antidepressants
dren and adolescents with a variety of coexist- Several types of antidepressants have been
ing conditions and does not worsen (or may found to be effective in children with ADHD,
improve) coexisting symptoms, including tics though they are not FDA-approved for this pur-
and anxiety (Garnock-Jones & Keating, 2009). pose. More than 20 placebo-controlled studies
A preliminary study suggests effectiveness in of tricyclic antidepressants (TCAs; including
preschoolers (Ghuman, Aman, Ghuman et al., desipramine, imipramine, and nortriptyline)
2009). Nonetheless, it does not appear to be have demonstrated that they improve ADHD
more effective in children with internalizing symptoms in children, although they are not as
disorders than those without internalizing dis- effective as stimulants for the majority of chil-
orders (Scott, Ripperger-Suhler, Rajab, & Kjar, dren (AACAP, 2007; Banaschewski, Roessner,
2010). Preliminary evidence suggests that the Dittman, Santosh, & Rothenberger, 2004).
About two thirds of children with ADHD who (Banaschewski et al., 2004). As with other medi-
do not respond to a stimulant will improve with cations that affect primarily the noradrenergic
a tricyclic antidepressant (Biederman, Baldessa- system, clonidine and guanfacine do not tend
rini, Wright, Knee, & Harmatz, 1989). to exacerbate tics and may reduce them (Bloch,
Compared with stimulants, tricyclic anti- Panza, Landeros-Weisenberger, & Leckman,
depressants have advantages that are similar to 2009). Disadvantages of the immediate-release
those of atomoxetine. They have a longer dura- forms of these medications include 1) sedation
tion of action, low abuse potential, and tend not and dry mouth, 2) rapid peaking of levels, and
to exacerbate tics. However, they have many 3) decreased compliance as a result of the need
more potentially problematic cardiovascular, for frequent dosing (reviewed in Sallee, 2010).
neurologic (tingling, incoordination, trem- In 2009, the FDA approved a long-acting form
ors) and anticholinergic (blurred vision, dry of guanfacine (Intuniv) for the treatment of
mouth) side effects that limit their use. Drug ADHD in children and adolescents. Two pla-
levels should be checked, as there can be large cebo-controlled trials (Biederman, et al., 2008;
interindividual differences in metabolism of Sallee, McGough, et al., 2009) documented the
these medications (Banaschewski et al., 2004). efficacy of extended release guanfacine on both
Electrocardiograms (EKGs) must be obtained inattentive and hyperactive/impulsive symp-
at baseline and monitored for cardiovascular toms in 6–17 year olds. The most common side
changes. Overdoses can be lethal and a few effects were somnolence-related, and tended to
cases of sudden death, presumably from cardiac subside over time (studies above and Faraone
arrhythmias, have occurred in children taking & Glatt, 2010). Cardiovascular changes were
appropriate doses of desipramine, although mild and not clinically significant. Open-label
causality could not be clearly established (Pop- continuation demonstrated safety and effective-
per, 2000). ness for up to 2 years (Biederman, et al., 2008;
Bupropion is a chemically distinct anti- Sallee, Lyne, et al., 2009). Although there is a
depressant whose precise mechanism of action theoretical concern about rebound hyperten-
in ADHD treatment remains unknown. It is a sion with abrupt discontinuation, this was not
weak dopamine reuptake inhibitor; this may found in a study of abrupt discontinuation in
explain its benefit. It has been shown to improve healthy young adults (Kisicki, Fiske, & Lyne,
ADHD symptoms in both children and adults 2007). A clonidine patch changed weekly has
with ADHD. Beneficial effects may be detected been available since 1984, though it is not yet
as early as 3 days after initiation of treatment, FDA approved for the treatment of ADHD. In
but maximum effects may not be seen until 4 2010, a twice-daily, extended release clonidine
weeks of treatment (Conners et al., 1996). On tablet (Kapvay, Shionogi, Inc.) was approved for
average the magnitude of the effects is simi- use alone or with stimulant medication for chil-
lar to or slightly less than those of stimulants dren and adolescents aged 6–17.
(Conners et al., 1996; Verbeeck, Tuinier, &
Bekkering, 2009). Gastrointestinal complaints,
drowsiness, and rashes are the most common TREATMENT WITH
side effects; insomnia can also occur. Bupropion COEXISTING CONDITIONS
treatment is associated with a slightly increased
risk of drug-induced seizures (about 4 per 1,000 Treatment of Children with
individuals). Use of high doses, a previous his- Attention-Deficit/Hyperactivity
tory of seizures, and the presence of an eating Disorder and Intellectual Disabilities
disorder seem to increase the risk for seizures.
Bupropion also may exacerbate tic disorders. ADHD can be diagnosed in the presence of
An extended release formulation (XL) has been intellectual disability when inattention or
shown to provide extended symptom control hyperactivity and impulsivity exceed expec-
throughout the day in adults (Wilens et al., tations for the child’s delayed developmental
2005); it has not been studied in children. level and cause additional functional impair-
ment. Studies suggest that methylphenidate
Alpha-2-Adrenergic Agonists can be effective for ADHD symptoms and
Despite relatively limited studies, the alpha- cognitive task performance in preschoolers
2-adrenergic agents, clonidine and guanfacine, and school-age children with intellectual dis-
have been used for the treatment of ADHD ability; however, they have a lower response
since the 1980s. Clonidine, in particular, has rate (around 50%) and an increased risk for
also been used for aggression and insomnia side effects, such as stereotypic behavior and
emotional lability (Deutsch, Dube, & McIl- the absence of ASD or intellectual disability
vane, 2008; Ghuman, et al., 2009; Handen (Handen, Johnson, & Lubetsky, 2000).
& Gilchrist, 2006). The likelihood of a posi- Preliminary studies suggest that atomox-
tive response appears to vary directly with etine may be safe and effective for hyperactivity
IQ; that is, the higher the IQ, the better the in 5–15 year olds with ASD, with similar effec-
response (Aman, Buican, & Arnold, 2003). An tiveness to methylphenidate, and fewer intoler-
initial double-blind, placebo-controlled study able side effects (Arnold et al., 2006). There are
of guanfacine in a small number of children a limited number of studies of clonidine and
with intellectual disability, autism, or both guanfacine in this population, with a small num-
who previously failed methylphenidate treat- ber of participants and variable results (Handen
ment showed improvements in hyperactivity et al., 2008). If using these medications, clini-
and aberrant behavior but not in attention cians must be vigilant for both positive and
(Handen, Sahl, & Hardan, 2008). Atypi- negative changes in behavior, and physical side
cal antipsychotics, particularly risperidone effects.
(Risperdal) may also be helpful for hyper- Risperidone has been shown to improve
activity and disruptive behaviors in children irritability, aggression, and stereotyped behav-
with intellectual disability (Filho et al., 2005; ior in children with autism (Arnold et al.,
Handen & Gilchrist, 2006; Olfson, Crystal, 2010; McDougle et al., 2005). It may improve
Huang, & Gerhard, 2010); however, there hyperactivity (Posey, Stigler, Erickson, &
are few studies using double-blind, placebo- McDougle, 2008) but the presence of hyperac-
controlled methods (Thompson, Maltezos, tivity is one of several predictors of less positive
Paliokosta, & Xenitidis, 2009). An open-label response in core autism symptoms (Arnold et
study in children and adolescents showed con- al., 2010). There is less evidence for effective-
tinued effectiveness for up to 2 years (Reyes, ness of antidepressants, anxiolytics, and mood
Croonenberghs, Augustyns, & Eerdekends, stabilizers (Aman, Farmer, Hollway, & Arnold,
2006). The development of metabolic syn- 2008).
drome (the combination of obesity, hyperten-
sion, high cholesterol, and high blood sugar Treatment of
levels) is a significant risk with the use of Attention-Deficit/Hyperactivity
atypical antipsychotics (Weiss et al., 2009). Disorder and Externalizing
Disorders (Oppositional Defiant
Treatment of Attention-
Disorder and Conduct Disorder)
Deficit/Hyperactivity Disorder
Individuals with ADHD and conduct disorder
and Autism Spectrum Disorders are at much higher risk of developing sub-
Older studies of children with autism suggested stance abuse or antisocial personality disorder
that the benefit to side effects ratio of stimu- and of being involved in criminal activity than
lants (primarily methylphenidate) was not suf- individuals with ADHD alone (Turgay, 2009).
ficient to warrant their use in this population; Oppositional defiant disorder (ODD) and
however, newer studies show positive effects conduct disorder (CD) are difficult to treat,
(Abanilla, Hannahs, Wechsler, & Silva, 2005). but typically respond best to comprehensive
Since a higher IQ is associated with better approaches involving counseling, educational
response, more recent inclusion of individuals interventions, and medication (Connor et al.,
with milder autism spectrum symptoms and 2010). About 60% of individuals with ODD
higher IQ may have shifted the results. will develop CD (Turgay, 2009).
Methylphenidate has been shown to Pharmacologic studies may evaluate indi-
improve hyperactivity in about 50% of chil- viduals with ODD and CD separately or as
dren with autism spectrum disorders (ASDs), one experimental group. Furthermore, some
with less robust effects on attention, and sig- studies identify the characteristic of aggression
nificant variability in dose response (Posey rather than a specific diagnosis as the indepen-
et al., 2007). Positive effects have also been dent variable. The term externalizing disorders
reported on attention to social interaction and will be used hereafter to refer to all of these
self-regulation (Jahromi et al., 2009). Meth- conditions collectively.
ylphenidate does not appear to help rigid- Individuals with ADHD and external-
ity or stereotypic behavior, and an increased izing disorders respond well to stimulants for
susceptibility to side effects is seen compared their ADHD symptoms. In addition, the exter-
with the rates seen in children with ADHD in nalizing symptoms are likely to improve, so
stimulants should be considered the first-line 2006). Atomoxetine may be helpful for both
pharmacologic treatment for externalizing dis- ADHD and anxiety (Geller et al., 2007; Krato-
orders with ADHD (List & Barzman, 2010; chvil et al., 2005) and may allow some children
Pliszka et al., 2006; Turgay, 2009). When chil- to be treated with one rather than two medica-
dren with aggression appear to be stimulant tions. When symptoms of depression are pres-
nonresponders, a systematic, carefully moni- ent, the more severe disorder should be treated
tored titration protocol to identify optimal first, with an SSRI being used for depression
dose, in combination with behavior therapy, and a stimulant for ADHD (Pliska et al., 2006).
may show sufficient improvement in up to 50% Other antidepressants that also treat ADHD
to remain on stimulant monotherapy (Blader, symptoms (tricyclic antidepressants and bupro-
Pliszka, Jensen, Schooler, & Kafantaris, 2010). pion) are options if a stimulant is not toler-
Atomoxetine has been shown to be equally effi- ated or is not effective. The finding that SSRIs
cacious for ADHD symptoms with or without and other antidepressants can increase suicidal
additional externalizing disorders (Dell’Agnello ideation in individuals with depression under-
et al., 2009), but its effect on oppositional scores the need for close monitoring (March et
symptoms remains controversial (Biederman et al., 2004).
al., 2007; Connor et al., 2010). Both stimulants
and atomoxetine have a small but finite risk of Treatment of
exacerbating depression, mood lability, and/or Attention-Deficit/Hyperactivity
aggression, so these symptoms should be moni-
Disorder with Tic Disorders
tored with regular follow-up visits. Additional
medications that demonstrate effectiveness for Although the presence of tics or a personal
some individuals with externalizing disorders or family history of Tourette syndrome are
include mood stabilizers (such as lithium or listed as contraindications to stimulant use by
divalproex sodium), alpha-adrenergic agonists the pharmaceutical companies that manufac-
(guanfacine and clonidine), SSRIs, and atypi- ture these medications, this stance appears to
cal antipsychotics (Connor et al., 2010; Nev- be unnecessarily restrictive (see Side Effects).
els, Dehon, Alexander, & Gontkovsky, 2010; ADHD symptoms may cause much more func-
Pliszka et al., 2006). Medication combinations tional impairment than the tics and thus be the
may eventually prove to be most useful for this priority for treatment (AACAP, 2007; Denkla,
group of children, but require further study 2006). Most children do not have significant tic
before they can be FDA-approved (McBurnett exacerbations in response to therapeutic stimu-
& Pfiffner, 2009; Spencer, 2009). lant doses (Gadow & Sverd, 2006; Palumbo et
al., 2004). Nonstimulant medications (atomox-
Treatment of etine, guanfacine, clonidine) can be tried first
Attention-Deficit/Hyperactivity and may improve existent tics (Bloch et al.,
2009). Tricyclic antidepressants may also treat
Disorder and Internalizing Disorders ADHD without inducing or exacerbating tics,
The treatment of children with ADHD and but their safety profile is a limitation. If stimu-
anxiety can be challenging because the ADHD lants are the only effective medication and do
core symptoms may not respond as well to exacerbate tics, the addition of guanfacine or
methylphenidate (Ter-Stepanian, Grizenko, clonidine is recommended (AACAP, 2007). If
Zappitelli, & Joober, 2010) or because anxiety these are not effective, risperidone or pimozide
may be exacerbated by stimulants. Although may be used for tic suppression (Pliszka et al.,
anxiety may inhibit impulsivity, it also may make 2006). The antiepileptic medication topiramate
working memory impairments worse (Schatz & may also be an effective tic suppressant, though
Rostain, 2006). Psychosocial intervention has further study is needed (Jankovic, Jiminez-Sha-
been shown to be particularly efficacious in hed, & Brown, 2010).
children with coexisting anxiety disorders and
may be a critical component of treatment in this Treatment of Attention-
group of children (MTA Cooperative Group,
Deficit/Hyperactivity Disorder
1999b). One algorithm derived by expert con-
sensus (The Texas Children’s Medication Algo- with Medication Combinations
rithm) recommends initiating treatment with a As described previously, it is common for indi-
stimulant and then adding an SSRI if anxiety viduals with ADHD to have one or more coex-
does not improve sufficiently when the ADHD isting conditions. Medications approved for the
symptoms are treated effectively (Pliszka et al., treatment of ADHD do not typically address the
coexisting symptoms, with some exceptions-— positive results. Nonetheless, 10%–20% of

atomoxetine may have positive effects on anxi- children were noted to respond, and preschool-
ety (Kratochvil et al., 2005; Spencer, 2009) and ers were noted to have a much higher response
ODD (Bangs et al., 2008; Newcorn, Spencer, rate (Bateman et al., 2004; Kaplan, McNichol,
Biederman, Milton, & Michelson, 2005) and Conte, & Moghadam, 1989). Studies focus-
alpha-adrenergic agonists may improve aggres- ing on the role of artificial colors and sodium
sion (Connor et al., 2010; Sallee, 2010) and tics benzoate in the general population of children
(Bloch et al., 2009; Pliszka et al., 2006). (not selecting for those identified as having
Combinations of methylphenidate with ADHD-related symptoms) have revealed small,
alpha-adrenergic agonists (Spencer, Green- but significant detrimental effects of these sub-
baum, Ginsberg, & Murphy, 2009), SSRIs, stances on the behavior of 3 and 8–9 year old
(Spencer, 2009), atomoxetine (Kratochvil et children (Bateman et al., 2004; McCann et al.,
al., 2005; Wilens et al., 2008), and atypical 2007). The adverse effect of additives in this
antipsychotics have all shown some benefit for group was moderated by polymorphisms in his-
individuals with ADHD and coexisting condi- tamine degradation genes, suggesting that his-
tions (Sallee, 2010; Spencer, 2009). Preliminary tamine response may play a role in the effects of
investigation indicates that atomoxetine with additives on behavior (Stevenson et al., 2010).
fluoxetine is a safe and effective combination for A meta-analysis of double-blind placebo-
ADHD with coexisiting anxiety or depressive controlled elimination diet trials found positive
symptoms. The safety information is important effects, though with overall small effect sizes
given that both medications are substrates for (Schab & Trinh, 2004). With the addition of
P450–CY2D6 liver metabolism (Kratochvil et more recent studies, additive-free elimination
al., 2005). Partial responders to atomoxetine diets are considered to have similar levels of evi-
show improvements when methylphenidate is dence for treatment effects in preschoolers, as
added (Wilens et al., 2008) but adverse effects does behavior management (Ghuman, Arnold,
are also increased (Hammerness et al., 2009). & Anthony, 2008).
In spite of increasing evidence for effectiveness, The elimination of specific foods may also
and widespread need for optimal management improve ADHD-related symptoms. Commonly
of ADHD with coexisting conditions, there allergenic foods are typically most often impli-
are only two recent FDA-approved medication cated, and children who reacted to foods also
combinations for ADHD or ADHD with coex- reacted to artificial colors (Carter et al., 1993;
isting conditions, sustained-release clonidine Egger, Carter, Graham, Gumley, & Soothill,
(Kapvay, Shionogi, Inc.) or sustained release 1985; Schmidt et al., 1997). A recent controlled,
guanfacine (Intuniv, Shire, Inc.) with a stimu- though not blinded, study of this approach
lant. in young children with ADHD resulted in an
approximately 50% improvement on parent
and teacher ADHD rating scales (Pelsser et al.,
ALTERNATIVE THERAPIES
2008). The mechanism for this observation is
Elimination diets, nutrient supplementa- unknown, but case reports document improve-
tion, and brain training techniques are the ment in ADHD symptoms when IgG-mediated
most-often studied alternative treatments for food reactions are eliminated (Ritz & Lord,
ADHD. Dietary treatments include two dif- 2005), though there are no well-controlled stud-
ferent approaches, either the elimination of ies at this time. The elimination of sugar has not
certain foods or additives or nutrient supple- been found to be an effective intervention (Wol-
mentation. Presently, there is more evidence in raich, Wilson, & White, 1995).
favor of the former. The two most commonly Children with ADHD may be relatively
identified additive-free diets are the Feingold deficient in iron, zinc, and magnesium (Arnold
Program (elimination of artificial colors and fla- et al., 2005; Glanzman, 2009). Small, open label
vors, the preservatives BHA, BHT, and TBHQ, studies of supplementation with these miner-
and naturally occurring salicylates found in als have demonstrated partial improvement
some fruits and vegetables), and a British ver- in ADHD symptoms (Rucklidge, Johnstone,
sion (elimination of artificial colors and the pre- & Kaplan, 2009). Recently a large, double-
servative sodium benzoate). There are, in fact, blind placebo-controlled study of zinc found
no accurately designed studies of the Feingold improvements in hyperactive and impulsive
diet. Studies in the early 1970s, which pur- behaviors but not inattention. Approximately
ported to test this hypothesis, contained meth- 29% of the zinc-treated group versus 20% of
odological flaws that would have minimized the placebo group was judged to be responders,
and those with lower zinc levels at baseline a higher level of those waves associated with
were more likely to respond (Bilici et al., 2004). drowsiness (theta). EEG biofeedback uses
Zinc status was also shown to correlate with computer technology to train the individual to
parent and teacher ratings of inattention, but produce more of the brain wave patterns associ-
not hyperactivity in middle-class Americans ated with concentration and to suppress those
(Arnold et al., 2005). Multinutrient supplemen- associated with overarousal or underarousal
tation has not been studied in ADHD specifi- (Monastra, 2008). There is some evidence
cally, or in well-controlled trials, but should be for its effectiveness (Friel, 2007; Holtman &
since multiple nutrients are involved in neu- Stadler, 2006), though more methodologically
rochemical reactions, and individuals deficient sound studies are needed. A recent randomized,
in one nutrient may be more likely to be defi- controlled trial found positive effects that per-
cient in others. There is some open-trial evi- sisted at a 6 month follow-up (Gevensleben et
dence that multinutrient formulas can improve al., 2010), but another double-blind study that
ADHD symptoms (Harding, Judah, & Gant, included a sham neurofeedback control condi-
2003) and mood/conduct in children or adults tion did not show effects on ADHD ratings or
with mental health diagnoses (Frazier, Fristad, continuous performance and stop signal tasks
& Arnold, 2009; Rucklidge, Gately, & Kaplan, (Logemann, Lansbergen, Van Os, Böcker, &
2010), including adults with ADHD ( Ruck- Kenemans, 2010).
lidge, Taylor, & Whitehead, 2010). “Mega- Other types of computerized training pro-
doses” of vitamins or minerals can have toxic grams that purport to improve attention and/or
effects and are not indicated. working memory show promising initial results
Essential fatty acids (EFAs) are lower (Beck, Hanson, Puffenberger, Benninger, &
in children with ADHD than controls, and Benninger, 2010; Holmes, Dunning, & Gath-
supplementation has shown positive effects ercole, 2009; Klingberg et al., 2005; Rabiner,
in a number of mental health disorders, but Murray, Skinner, & Malone, 2010; Shalev, Tsal,
treatment effects in ADHD have been weak & Mevorach, 2007). A multicenter, random-
(reviewed in Chalon, 2009; Raz & Gabis, 2009). ized, controlled, double-blind study of 53 chil-
Earlier studies tended to be negative and to use dren with ADHD who were not on stimulant
one type of EFA (omega-3 or omega-6). More medication showed improvements in work-
recent studies have shown positive results (John- ing memory, response inhibition, reasoning,
son, Östlund, Fransson, Kadesjö, & Gillberg, and parent-rated inattention (Klingberg et al.,
2009; Richardson & Montgomery, 2005; Sinn 2005). A functional magnetic resonance study
& Bryan, 2007) using eicosapentaenoic (EPA, showed task-dependent enhancement of brain
omega-3), docosahexaenoic (DHA, omega-3) activation in expected regions after training, but
and linoleic acid (LA, omega-6) or gama-lin- not in children who received control training
oleic acid (GLA, omega 6) together, suggesting (Hoekzema et al., 2010).
that a combination of omega-3 and omega-6
may be necessary. Since children with ADHD
OUTCOME
appear to be deficient due to altered metabo-
lism of EFAs rather than decreased intake Symptoms of ADHD decline over time; yet
(Colter, Cutler, & Meckling, 2008), initial about 15% of young adults continue to meet
measurement followed by individualized treat- full criteria and about 65% meet criteria for
ment may be a more appropriate way to assess ADHD in partial remission (Faraone et al.,
the effects of supplementation. For example, a 2006). Overall, up to 78% have some evidence
recent study in which EPA treatment alone did of persistence (Biederman, Petty, Evans, Small,
show positive effects also found higher levels & Faraone, 2010). Unfortunately, even with a
of arachidonic acid (an omega-6 EFA) among reduction in symptom burden, longitudinal fol-
responders (Gustafsson et al., 2010). low-up studies indicate that functional impair-
Several techniques that “train” brain activ- ments persist 10 years later in the majority of
ity with the goal of improving attention and individuals diagnosed at 6–17 years of age (Bie-
working memory are under investigation. EEG derman, Monuteaux, et al., 2006).
biofeedback is the treatment that has been Young adults with ADHD have lower
studied most extensively, though there are only educational and employment performance
a few well-controlled trials. Quantitative EEG and attainment, fewer friendships and more
studies indicate that subjects with ADHD tend social problems, poorer driving records, and a
to have a lower level of those waves (alpha and higher chance of sexually transmitted disease
beta) associated with alert, thinking states, and and unplanned pregnancy (Barkley, Fischer,
Smallish, & Fletcher, 2006; Biederman, Monu- than behavioral treatment or community care.
teaux, et al., 2006; Fischer, Barkley, Smallish, For academic achievement, anxiety/depressive
& Fletcher, 2007; Wehmeier, Schacht, & Bar- symptoms, oppositional/aggressive symptoms,
kley, 2010). Youth with ADHD are at higher social skills, and parent–child relationships,
risk for emerging coexisting conditions in their there were benefits of combined treatment
young adult years, including antisocial, addic- compared with medication alone (Jensen et
tive, mood, and anxiety disorders (Biederman, al., 2001). Children with anxiety disorders
Monuteaux, et al., 2006). Girls with ADHD are responded as well to the psychosocial treatment
also at higher risk for eating disorders (Bieder- as they did to medication alone.
man et al., 2010). The presence of a conduct At 24 months (10 months after the end of
disorder predicts some of the most severe out- treatment), about half of the advantage provided
come risks, including failure to graduate high by medication at 14 months had dissipated.
school, early sexual activity and parenthood, This was most likely due to failure to main-
antisocial behavior, and substance use (Barkley tain effective treatment and some “shifting” of
et al., 2006). groups; for example some in the combination
Understanding the effects of current and medication treatment groups discontinued
treatment options in ameliorating the subop- medication, and some in the behavioral treat-
timal outcomes faced by youth with ADHD is ment group initiated medication treatment
hampered by the difficulty in performing well- (Murray et al., 2008; Swanson et al., 2008).
controlled, prospective, long-term studies, but Behavioral treatment, either alone or in combi-
some consistent information is emerging based nation with medication management, provided
on a combination of different types of studies. a sustained advantage in ameliorating parent-
The MTA study is the largest clinical trial of reported homework problems (Langberg et al.,
ADHD treatments to date (MTA Coopera- 2010).
tive Group, 1999a). This prospective multisite At 36 months (22 months after the end of
treatment study of 576 children with ADHD- treatment), there were no longer any differ-
C between the ages of 7 and 9 years random- ences in the variety of outcome measures used
ized children to one of four treatment groups: among any of the treatment groups. All groups
medication management, intensive behavioral were doing better across all measures compared
treatment, medication and intensive behavioral with baseline, but all were worse off than com-
treatment, and standard community care. The munity controls. Outcome was related to the
medication management group received pri- initial pattern of treatment response rather
marily methylphenidate titrated to the best of than to the specific treatment itself. There were
three doses. The behavioral treatment involved three patterns of initial response: 1) about 34%
35 group and individual sessions for parents, of subjects showed an initial mild improve-
a summer program for children, teacher con- ment that gradually increased over time, 2)
sultation, and 60 days of a part-time behavior- 52% showed an initial substantial improve-
ally trained paraprofessional working with the ment that was maintained over time, 3) about
child in school. The combined treatment group 14% had an initial substantial improvement
received both of these interventions, while the and then deteriorated over time. The second
standard community care group were evalu- group had the most favorable outcome. They
ated and referred back to providers in their own were less impaired at baseline, had less psycho-
community for treatment. (About 67% of this social adversity, and were more frequently in
group received some type of medication treat- the medication or combined treatment groups.
ment). The main disadvantage of this study for The third group had the poorest outcome.
outcome assessment is that treatment was lim- They had increased severity at baseline, lower
ited to 14 months, and subsequent treatment IQs, decreased social skills, more coexisting
during the follow-up phase was not systemati- conditions, and more psychosocial risk factors.
cally evaluated. The first group showed an intermediate out-
After 14 months of treatment, medication come, and in this group, those who continued
alone was found to be nearly as effective as the to take medication did better (Murray et al.,
combined treatment for improving core ADHD 2008; Swanson et al., 2008). One might inter-
symptoms, although those receiving the com- pret these findings to mean that medication
bined treatment achieved these outcomes on treatment does not provide long-term benefit;
lower doses of medication. Both the combined however, it is also more likely that those with
and medication-only treatments were more the most severe symptoms were most likely to
effective in improving core ADHD symptoms remain on medication.
At the 6–8 year follow-up, the impor- childhood (including symptom severity, con-
tance of the initial pattern of response contin- duct symptoms, intellect, and social advantage),
ued. Outcome measures were collected from and the degree of response to any treatment are
parents, teachers, and subjects, and additional better predictors of adolescent functioning than
variables that were appropriate for adolescents, the type of 14-month treatment received during
such as grades earned, arrests, and psychiat- childhood. Other studies suggest that carefully
ric hospitalizations, were included. Although managed medication treatment can improve
a majority of the group had initial treatment specific functional outcomes, even when not
gains that were maintained, MTA participants provided continuously into later adolescence
remained disadvantaged compared with com- and young adulthood. The role of continued
munity controls on 91% of the variables mea- medication and optimal prescribing practices
sured (Molina et al., 2009). The MTA data were remains to be determined. There is a critical
further examined to evaluate the role of mod- need for studies to determine the best ways
erators and mediators of treatment outcome. to mitigate adverse moderators and mediators
Moderators are uncontrolled variables present and to improve, rather than simply accommo-
at baseline that influence response to interven- date, the executive function impairments that
tion, whereas mediators are variables that are are known to contribute to academic and adult
present during treatment that may explain how functional impairment.
treatments work or do not work. MTA-iden-
tified moderators include coexisting anxiety
disorder, public assistance, severity of ADHD SUMMARY
symptoms, IQ, and parental depressive symp- ADHD is a prevalent neurodevelopmental
toms. Negative or ineffective parent discipline condition that has a significant impact on the
was a key mediator (Hinshaw, 2007). lives of affected children, their families, and the
Other outcome studies of medication educational and medical/mental health systems.
effects indicate slight benefits in social skills The core features of difficulty sustaining men-
and self-esteem (Hechtman & Greenfield, tal effort, hyperactivity, and impulsivity lead to
2003), and decreased risk for depression and impairment in academic, occupational, social,
other psychiatric disorders (Biederman et and adaptive functions without effective inter-
al., 2009; Daviss, Birmaher, Diler, & Mintz, vention. Coping with ADHD is made more
2008). Academic benefits can be identified in complicated by commonly coexisting condi-
adolescence, even when medication treatment tions, including learning disorders, oppositional
was only provided in childhood, on variables defiant disorder, and anxiety disorders. ADHD
such as grade retention, high school grade is highly genetic, but adverse conditions in the
point average (GPA), and WIAT II subtest prenatal and perinatal period can contribute to
scores (Powers, Marks, Miller, Newcorn, & symptoms. Multiple lines of evidence suggest
Halperin, 2008). There is no clear evidence a biological basis involving frontal cortical-
for an effect of childhood medication treat- basal ganglia-cerebellar pathways and biogenic
ment on later substance use risk (Biederman amine neurotransmitters, particularly dopa-
et al., 2008), but there is evidence that a sig- mine and norepinephrine. Treatments include
nificant percentage of older adolescents and counseling, particularly that focusing on behav-
young adults with ADHD are using substances ior management; accommodations in the class-
to “self-medicate” (Wilens et al., 2007), sug- room; addressing coexisting conditions; and
gesting that optimal medication treatment for medication. Fortunately, the knowledge and
ADHD may ameliorate this risk. resources presently available, and the increases
In summary, the MTA study indicates in these areas that are sure to occur over the
that optimally managed medication treat- next generation, offer children growing up with
ment is effective, that the addition of behav- ADHD the opportunity to experience success.
ioral treatment may be particularly important
in subgroups with coexisting symptoms and
psychosocial adversity, and that children with REFERENCES
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23 Specific
Learning Disabilities
M.E.B. Lewis, Bruce K. Shapiro, and Robin P. Church

■ Know the definition and implication of the term learning disorder
■ Be aware of impairments associated with learning disorders and the connection
to other disorders
■ Know how assessment of learning disorders is done and how results are used
■ Be aware of some intervention strategies
■ Know the range of outcomes for children and adolescents with learning
disorders
A great deal of learning involves processing a language, reading, written language, math-
visual representation of concepts, attaching that ematics (Clay, 2011). This impairment causes
perception to language in order to communicate serious difficulties in daily progress through
understanding, and demonstrating that under- the general education curriculum at all grade
standing with oral or written products. When levels. These disorders affect individuals who
a child struggles with these subtle and complex otherwise demonstrate at least average abili-
perceptual skills, their disabilities in understand- ties essential for thinking or reasoning. Thus,
ing what they are encountering in the classroom although intellectual disability, cerebral palsy,
impacts their ability to build a “toolbox” for seizure disorders, receptive and expressive lan-
more and more complex learning. This chapter guage disorders, traumatic brain injury, and
focuses on those children, who represent more hearing and vision impairments all can inter-
than a third of the students identified with dis- fere with learning, they are not classified as
abilities in the United States (National Center primary learning disorders.
for Education Statistics, 2011). This chapter focuses on primary learning
As proposed in the forthcoming Diagnos- disorders. Specific reading disability (SRD), or
tic Statistical Manual of Mental Disorders, 5th dyslexia, is the learning disorder that is the most
edition (DSM-5), the definition of a learn- fully described, as it is both the most commonly
ing disorder (referred to in IDEA 2004 as a recognized learning disorder and the one about
specific learning disability) is a condition that which the most is known. Research and inter-
interferes with the acquisition and use of one ventions related to writing and math disorders
or more of the following academic skills: oral will also be discussed.
403
404 Lewis, Shapiro, and Church
■ ■ ■ DONALD His decoding skills had accelerated to a low-

average range, but his fluency remained slow
Donald developed typically as a young child
and methodical. He remained a little more than
and seemed as bright and alert as his sisters,
a year behind in reading, but his rate of learn-
although he began to talk somewhat later than
ing had accelerated. The school team recom-
they had. In kindergarten, on a test of early
mended that he receive extra reading services
reading skills, he scored well below average in
daily for another year. By this time, he excelled
knowledge of the alphabet, phonemic aware-
in mathematics, which helped to offset any feel-
ness, and early word recognition skills, although
ings of inferiority or lack of engagement in learn-
his math skills fell within the average range. In
ing that his difficulty with reading and spelling
first grade, Donald entered a general educa-
might have brought about. He still found school
tion class and soon began to fail. He could not
difficult, but he stopped avoiding it and saw
learn phonics, and his spelling was erratic, with
success in learning some subjects. His behavior
no pattern of error or any connection of sound
problems also faded. With the continued sup-
to symbol. He learned to add and subtract eas-
port of his teachers and parents, Donald is likely
ily, however. Donald went through a battery of
to have a good outcome.
tests that identified SRD in the presence of his
average intellectual functioning, a fact that is
not atypical among students with learning dif-
DEFINING LEARNING DISORDERS
ficulties—his full-scale IQ score on the Wechsler After a decade of intense review of research, the
Intelligence Scale for Children–Fourth Edition American Psychiatric Association will change
(WISC-IV) was 110. its current organization of the Diagnostic and
The school support team decided to keep Statistical Manual in its coming fifth edition
Donald in a general education class, with an itin-
(DSM-5) and will place dyslexia, dyscalculia
(impairment in the ability to solve mathemati-
erant special education teacher providing extra
cal problems), and disorders of written expres-
help. This approach was not effective, however, sion under the descriptor “learning disorders,”
and Donald fell further behind his peers in lan- as noted previously.
guage arts. He started misbehaving in class and The Individuals with Disabilities Educa-
avoiding going to school, using headaches as tion Improvement Act of 2004 (IDEA 2004;
an excuse. At the end of first grade, his reading PL 108-446) defines specific learning disabil-
was more than 1 year delayed, whereas his arith- ity (SLD) as: “A disorder in one or more of the
metic skills were well above age-level. basic psychological processes involved in under-
When he entered second grade, Donald standing or in using language, spoken or writ-
was anxious and unhappy. During that year, the ten, which disorder may manifest in imperfect
school team recommended that he remain in a
ability to listen, think, speak, read, write, spell,
or do mathematical calculations” (§ 602[26]
general education class but receive pullout ser-
[a]). The term excludes learning problems that
vices in reading daily for 45 minutes. Donald and are the result of visual, hearing, or motor dis-
three other students worked with a reading spe- abilities; of intellectual disability; of emotional
cialist who used a structured phonics approach. disturbance; or of environmental, cultural, or
Donald also worked with a speech-language economic disadvantage.
specialist who focused on phonological skills. This definition is problematic because
His parents also worked with him at night. He it fails to define the core features or origins
remained a poor reader, but he could feel the of SLD. The definition does not identify the
excitement of gaining new knowledge as his “basic psychological processes” of learning or
class explored new concepts and procedures how marked an “imperfect ability” to learn
with teacher demonstration or by being read
must be in order to constitute a disability. It
is a definition of exclusion; all other causes
to by others. He started developing friendships
for the learning problems must be eliminated.
with peers, although his less sensitive school- SLDs can coexist with other conditions, most
mates continued to tease him. notably attention-deficit/hyperactivity disorder
At the end of second grade, Donald was (ADHD; McNamara, Vervaeke, & Willoughby,
retested and found to have made substan- 2008; see Chapter 22). Other disabilities identi-
tial progress during the prior school year. fied in IDEA are excluded from the definition in
Specific Learning Disabilities 405
order to prevent “double dipping” from exist- 6, B page 60). This approach is often called a
ing federal programs that deal with those issues. response to intervention (RTI) model (see also
It is clear, however, that a child with SLD may Chapter 31).
also have other conditions that affect learning.
The common approach for diagnosing
RESPONSE TO INTERVENTION
SLD has been to document a severe discrep-
ancy between ability and achievement by dem- Vaughn and Fuchs (2003) advocated redefining
onstrating a significant difference between the learning disability as an inadequate response to
child’s potential to learn, often expressed as instruction (RTI). This RTI approach has been
an IQ score, and his or her actual educational touted as a promising alternative to traditional
achievement (Gregg & Scott, 2000). Evidence testing methods for identifying students with
now suggests, however, that this discrepancy specific learning disabilities. Important benefits
approach has poor sensitivity and specificity of such an approach include 1) identification of
in discriminating students with specific read- students using an at-risk rather than a deficit
ing disability from those with low IQ scores model, 2) earlier identification and interven-
and poor reading (Francis et al., 2005). In one tion, 3) reduction of identification bias, and 4) a
study, this approach correctly identified less strong focus on student outcome. RTI involves
than half of individuals who were receiving the provision of intensive, systematic instruc-
special education services. Discrepancy formu- tion for a defined period of time to very small
las have also shown poor validity in projecting groups of students who are at risk for academic
the child’s later school performance in reading. failure. The initial step of RTI involves students
Of the individuals classified as having SRD in receiving instruction in their general educa-
first grade on the basis of a discrepancy between tion classroom with their progress being care-
ability and achievement, only 17% remained in fully and regularly monitored. Those students
this classification by sixth grade. Studies suggest who do not progress then receive additional
that the discrepancy formula was no better in services from a learning or reading specialist.
identifying SLD than simply applying a crite- Again, their progress is carefully and regularly
rion of low achievement (Fletcher et al., 1994). monitored. Those who still fail to progress
In addition, the discrepancy model incorrectly are referred for a special education evaluation
assumes that IQ scores measure the basic skills (Fuchs, Mock, Morgan, & Young, 2003; Olitsky
involved in the various learning disorders (Fran- & Nelson, 2003).
cis et al., 2005). For all of these reasons, there Intensive instruction provided daily in
is serious doubt about the utility and validity a very small group setting is fiscally demand-
of the discrepancy concept for specific reading ing in that it may impose a staffing burden in
disability. One alternative is to use the Compo- a classroom; however, those who make prog-
nent Model of Reading approach, which is an ress at the end of the prescribed time (usually
elaboration of the simple view of reading that 12–16 weeks) are then returned to the general
focuses on the literacy skills necessary in each education program, reducing needless referral
component of learning to read (Aaron, Joshi, of students for evaluation and potential place-
Gooden, & Bentum, 2008). ment in separate, special learning environ-
IDEA 2004 also makes educators pause ments. Those who do not made adequate gains
to consider the appropriateness of relying receive a second round of intensive intervention
entirely on the discrepancy model (Council (Gortmaker, Daly, McCurdy, Persampieri, &
for Exceptional Children, 2005). Although the Hergenrader, 2007; Hay, Elias, Fielding-Barn-
discrepancy model is not abandoned under this sley, Homel, & Freibery, 2007). Students who
legislation, a variety of other tools and assess- remain unresponsive to such intensive interven-
ment strategies may be used to determine tion are then referred for comprehensive evalu-
eligibility. IDEA 2004 states that “a local edu- ation. Despite widespread support for RTI,
cation agency shall not be required to take into potential issues remain. These include relying
consideration whether a child has a severe dis- on the instructional environment, ensuring
crepancy between achievement and intellectual instructional validity, defining intensive instruc-
ability.” It further states that “in determining tion, personnel preparation, and availability of
whether a child has a specific learning disabil- trained teachers. By using scientifically derived
ity, a local educational agency may use a process interventions for early instructional support,
that determines if the child responds to scien- however, the potential for maintaining those
tific, research-based intervention” (sec 614b, students in the general education environment
increases. This is in contrast to the discrepancy diagnosis, it also may be a consequence of a

model, which is a “wait to fail” model, in which certain amount of overdiagnosis or of inclu-
the student may struggle with learning activities sion of individuals with more subtle learning
while the discrepancy emerges. problems in a category previously reserved
This tiered approach has reduced the for students with more obvious disabilities
numbers of students referred to pullout or (Litt, Taylor, Klein, & Hack, 2005). It should
special education services (Berkeley, Bender, be emphasized, too, that prevalence figures
Peaster, & Saunders, 2009). In research centers depend on the definition of disability. Because
around the nation, studies continue to deter- of the problematic definition of SLD, it fol-
mine how to more effectively implement the lows that prevalence figures may be unreli-
model (Deshler, Mellard, Tollefson, & Byrd, able and vary from author to author or study
2005; Kennedy & Deshler, 2010; Moss, Lapp, to study. These statistics represent only those
& O’Shea, 2011; Pullen, Tuckwiller, Konod, students who are served in the public schools
Maynard, & Coyne, 2010; Ramaswami, 2010). and not those who may be served in private or
Although most often described as a three-tier nonpublic schools. It also omits the 1.5 million
model, some schools identify a fourth, or “spe- students who are home schooled and whose
cialized” tier, which may provide intervention status of disability is not identified.
closer to that provided in special education In addition, reporting differences among
classes without the express referral for a deter- school districts and states affect the prevalence
mination of eligibility for special education. of SLD. Individual school districts exercise con-
Kavale and Spaulding (2008) reviewed the siderable autonomy in defining, describing, and
policy implications for these new regulations coding disabilities at the time services are deter-
and concluded that both RTI and psychometric mined. Districts in the same state may not code
evaluation are appropriate for the identification or assign services for SLD in the same way. In
of learning disorders. districts in which families are persistent in seek-
The diagnosis of SLD is difficult in stu- ing special educational services and actively
dents identified as English language learners involved in the process of attaining those ser-
(ELL) or having limited English proficiency vices, the correct and discrete identification of
(LEP). Some of these students may be expe- a child’s disability is more certain. In districts in
riencing difficulty because of their lack of which some disabilities are not specified com-
familiarity with English in its academic and/or pletely, or include other aspects that contrib-
social use. Alternatively, some may, in fact, have ute to learning difficulties, such as attention or
disabilities in learning in both the native lan- behavior problems, an overembracing term such
guage and English (Barrera, 2006; Blanchett, as multiple disabilities may be used. This inexact
Klingner, & Harry, 2009; Liu, Ortiz, Wilkin- term camouflages the exact nature of a child’s
son, Robertson, & Kushner, 2008). Although problems with learning and may distort the
teacher preparation for serving students with design of an effective and useful education pro-
SLD has expanded, the preparation of teachers gram, but without a wider range of descriptors
to address the needs of students who may have in the law, such terms are often used by school
both a learning disorder and English language teams. Needless to say, the accuracy of exact
proficiency issues needs to be improved (Pan- numbers of students identified as having SLD
eque & Barbetta, 2006). can be affected by these factors. In addition,
the growing number of individuals identified
as being on the autism spectrum is influencing
PREVALENCE the overall numbers of individuals identified as
The U.S. Department of Education, National being in need of special education. Many of the
Center for Education Statistics (2011), reported higher functioning students with autism spec-
that of the more than 6.6 million students trum disorders (ASD) were formerly classified
receiving special education services during the as having learning disabilities. The overlap of
2007–2008 school year, approximately 2.5 mil- severe learning disorders and higher functioning
lion were classified as having SLD. This repre- autism has long been recommended for further
sents approximately 5% of the total school-age study to examine potential links between the two
population. The size of this category has nearly conditions (Williams, Goldstein, Kojkowski, &
doubled since its original creation in 1977, with Minshew, 2008). As of 2011, little has been stud-
a particular acceleration in the 1990s. Although ied or published to see if the disabilities may be
this expansion may represent early or improved connected.
SPECIFIC READING DISABILITY individuals with different neuropsychological

profiles (Cirino, Israelian, Morris, & Morris,
Mechanisms of 2005; Waber, Forbes, Wolff, & Weiler, 2004).
Specific Reading Disability Others have reviewed the topic and found little
support for the theory that underlies the dou-
Specific reading disability (SRD), also called ble-impairment hypothesis, namely that rapid
developmental dyslexia, is by far the most com- serial processing and temporal integration of
monly recognized form of learning disability, letter identities are the primary means by which
accounting for nearly half of the special educa- orthographic codes are formed (Ritchey &
tion population (National Association of Special Goeke, 2006; Vellutino, Fletcher, Snowling, &
Education Teachers [NASET], 2007). Theo- Scanlon, 2004; Vukovic & Siegel, 2006). They
retically, any defect in the processing or inter- also question the independence of phonologi-
pretation of written words can lead to SRD. cal and rapid naming skills and the specificity of
Efficient reading depends on rapidly, accu- impairments in rapid naming for reading.
rately, and fluently decoding and recognizing Taking these findings into account, a bio-
the phonemes (speech sounds) of single words logically based definition of specific reading
(Talcott et al., 2000; Wolf, Bowers, & Biddle, disability was proposed by Lyon, Shaywitz, and
2000). Phonological awareness includes 1) pho- Shaywitz (2003):
neme awareness (the understanding that speech
is made up of discrete sounds), 2) a metacogni- Dyslexia is a specific learning disability that is
tive understanding of word boundaries within neurobiological in origin. It is characterized
spoken sentences, 3) a recognition of syllable by difficulties with accurate and/or fluent word
boundaries within spoken words, and 4) an abil- recognition and by poor spelling and decoding
abilities. These difficulties typically result from
ity to isolate these phonemes and establish their
a deficit in the phonological component of lan-
location within syllables and words. Phonologi- guage that is often unexpected in relation to other
cal awareness manifests in the ability to analyze cognitive abilities and the provision of effective
and manipulate sounds within syllables (e.g., to classroom instruction. Secondary consequences
count, delete, reorder them). If a child does not may include problems in reading comprehension
realize that syllables and words are composed and reduced reading experience that can impede
of phonemes and that these segments can be growth of vocabulary and background knowledge.
divided according to their acoustic boundaries, (2003, p. 2)
reading will be slow, labored, and inaccurate; in
addition, comprehension will be poor. A second Genetics
possible mechanism may be a defect in phonetic Since the turn of the 20th century, it has been
representation in working memory, wherein the hypothesized that reading disabilities are heri-
child can understand the syntactic structure of table. Often several members of a family have a
a sentence but is unable to maintain it in work- SRD, and the underlying phonological process-
ing memory long enough to comprehend the ing impairments in this disorder appear to be
meaning (Kamil, Pearson, Moje, & Afflerbach, highly heritable (Natale et al., 2008). Genetic
2010; Mann, 1994). studies using linkage and association techniques
Poor reading has been linked to pho- have shown a relationship among SRD and loci
nological processing impairments, but these on chromosomes 1, 2, 3, 6, 15, and 18 (Scerri &
impairments alone are not sufficient to explain Schulte-Körne, 2010).
SRD. Wolf and Bowers (1999) proposed three Individuals with certain genetic syndromes
underlying types of specific reading disabil- also may have an increased risk of manifesting
ity: 1) phonological impairment; 2) disrupted a particular type of learning disability. Research
orthographic processing, which results from into these syndromes has revealed that girls with
slow naming speed; and 3) a combination of Turner syndrome and fragile X syndrome and
both impairments. Individuals who manifest boys with Klinefelter syndrome tend to have
the double impairment, phonological impair- visual-perceptual learning disabilities (Maz-
ments and naming speed impairments, are the zocco, 2001), whereas individuals with neurofi-
poorest readers. This hypothesis has not been bromatosis, type I, have both visual-perceptual
universally accepted. Some researchers failed to and language-based learning disabilities (Cut-
find a phonological impairment in the absence ting, Koth, & Denckla, 2000). Casey, Cohen,
of a naming-speed impairment and noted that Schuerholz, Singer, and Denckia (2000) studied
the double-impairment groupings identified parents of individuals with Tourette syndrome
and found that they showed language-based might be different. This study showed increases
learning problems as well. Each of these syn- in both left and right hemisphere activation fol-
dromes is discussed further in Appendix B. lowing successful reading intervention (Eden et
al., 2004).
Neural Substrates of Reading
Reading is a dynamic process that develops with SPECIFIC
age and experience. It encompasses a wide vari-
MATHEMATICS DISABILITY
ety of skills that develops at varying times. Early
instruction focuses on learning to read and tar- Three to six percent of individuals have perfor-
gets decoding. Later instruction uses reading mance on tests of mathematical ability that is dis-
to learn, and the focus shifts to comprehen- crepant from their IQ scores (Mazzocco, 2007;
sion. Beginning inexperienced readers employ Shalev & Gross-Tsur, 2001). This percentage
a “bottom-up” approach that uses analytic and may be higher than the true frequency of a
synthetic processes. Experienced readers use learning disorder in mathematics. Poor perfor-
a “top-down” approach that results in faster, mance may be due to a lack of adequate instruc-
more efficient reading. Top-down, or conception in areas that are covered by the assessment
tual, approaches assume that the path from text measures. Another reason for discrepant per-
to meaning extends from prior knowledge that formance on math tests may relate to impair-
is applied to the process of acquiring the sound– ments in reading or executive function rather
symbol connection of reading. than mathematics (Dirks, Spyer, van Lieshout,
Compensated poor readers recruit addi- & de Sonnerville, 2008; Donlan, 2007; Jordan,
tional brain areas to read. Neuroimaging stud- 2007). A math learning disorder commonly is
ies in individuals with dyslexia show reduced seen in the presence of other learning disorders
engagement of the left temporo-parietal cortex and cognitive disorders. Of individuals with a
for phonological processing of print, altered math learning disorder, approximately 17% had
white-matter connectivity, and functional plas- coexisting SRD and 26% had ADHD (Gersten,
ticity associated with effective intervention Jordan, & Flojo, 2005; Shalev & Gross-Tsur,
(Fisher & DeFries, 2002; Gabrieli, 2009). Pos- 2001). Of kindergarteners with developmen-
terior systems predominate during early read- tal language disorders, 26% had significantly
ing acquisition (Simos et al., 2002; Turkeltaub, impaired arithmetic skills (Manor, Shalev,
Gareau, Flowers, Zeffiro, & Eden, 2003). As Joseph, & Gross-Tsur, 2001). Marshall, Scha-
individuals become older and are more skilled fer, O’Donnell, Elliott, and Handwerk (1999)
at reading, they begin to engage parietal and found that inattention exerts a specific and del-
superior temporal areas, with anterior regions eterious effect on the acquisition of arithmetic
coming on line last. Individuals who are identi- computation skills. This has led some to defer
fied as having dyslexia do not increase activa- the diagnosis of math learning disorder in the
tion of the word form area, even after repeated presence of ADHD until the ADHD is properly
trials of word exposure. As they grow older, managed (Shalev & Gross-Tsur, 2001). Finally,
they show the opposite—activation of the ante- assessment of mathematics encompasses a vari-
rior system. Anterior activation is not the sole ety of skills and neuropsychological processes,
processing difference, however, as individuals some of which may be impaired whereas others
with dyslexia also activate their right anterior are relatively spared.
inferior frontal gyrus as well as the right poste- Difficulty with mathematics may mani-
rior occipital-temporal region (Sandak, Menel, fest in different ways. Counting, basic calcu-
Frost, & Pugh, 2004). lation, problem solving, place values (base-10
Shaywitz and colleagues (2004) have concepts), equivalence, measurement, time,
underscored the importance of dysfunction relations (as in algebra), and geometry are but
of the left hemisphere brain systems in SRD. some of the ways that mathematics is expressed.
They provided a year of intensive reading Despite the wide range of expression, math
remediation to a group of individuals with learning disorder is defined by deficiencies in
SRD. After the intervention, the individuals fact mastery and calculation fluency (Jordan,
made gains in reading fluency, and neuroimag- Hanich, & Kaplan, 2003). Some of the diffi-
ing studies showed increased activation of the culties that children encounter in mathemat-
anterior and dorsal systems. A study in adults ics evolve from their earliest encounters with
with a lifetime history of SRD demonstrated numbers; that is, their number sense and early
that reading remediation in older individuals numeracy. The intuitive understanding of
numbers and related concepts such as how num- poor nonverbal skills (visual-spatial and tactile-
bers grow and diminish with calculation may be perceptual), whereas individuals with com-
viewed as having a parallel to the initial reading bined math learning disorder and SRD showed
skill of phonemic awareness, which includes the poorer verbal skills (verbal and auditory-
earliest awareness of how words are made up of perceptual). Geary (2004) posits three subtypes
discrete sounds. Research has shown that this of math learning disorder based on memory and
initial “gut sense” about numbers may be signif- cognitive impairments: 1) procedural subtype,
icant in identifying the origins of math learning 2) semantic memory subtype, and 3) visuospa-
disorder (Mazzocco, Feigenson, & Halberda, tial subtype. Others have associated dyscalculia
2011). with executive function and working mem-
Math learning disorder evolves over time. ory impairments (McLean & Hitch, 1999).
Early presentations exhibit difficulty with Dehaene and Cohen (1995) advocated a “triple-
retrieval of basic math facts and in computing code model” wherein simple arithmetic opera-
arithmetic exercises. These have been related tions are processed by the verbal system within
to immature counting skills. Older individu- the left hemisphere and more complex arithme-
als have difficulty in learning arithmetic tables tic procedures that require subitization (the abil-
and comprehending the algorithms of add- ity to perceive at a glance the number of items
ing, subtracting, multiplying, and dividing. presented), cardinality (the ability to perceive
These manifest as misuse of signs, forgetting to the number of elements in a set or other group-
carry, misplacing digits, or approaching prob- ing), and visual representations are bilaterally
lems from left to right (Shalev, 2004). Ten- to localized.
eleven-year-olds with math learning disorder
showed persistently poor math performance on IMPAIRMENTS ASSOCIATED WITH
reexamination six years later (Shalev, Manor, &
Gross-Tsur, 2005).
SPECIFIC LEARNING DISABILITIES
Donald’s case is unusual in that he has an iso-
Neurobiology of Math lated SRD that responded to the interventions
Neurobiological evidence of math learning dis- provided, allowing him to continue in an inclu-
order is still evolving, and the exact mechanism sive educational setting. One quarter to one half
remains to be delineated. Evidence derived from of individuals with learning disorders have addi-
clinical syndromes, neuroimaging, and genetics tional impairments that interfere with school
suggest a number of brain-based impairments. functioning. These may include executive
Although the clinical syndromes point to a function impairments, ADHD, social cogni-
major role of the parietal lobe in dyscalculia, tion impairments, and emotional and behav-
the relationship is not simple. Different types of ior disorders. These behavior and emotional
mathematic skills require coordination of dif- problems may be externalizing (e.g., aggres-
ferent brain functions and, by extension, activa- sion, oppositional-defiant disorder, conduct
tion of different brain areas. Complicating this disorder) or internalizing (e.g., shyness, depres-
is the finding that people who have difficulty sion, anxiety). Failure to detect and treat these
with math will recruit other brain areas and use additional impairments is a common reason for
other psychological mechanisms to compensate failed intervention programs. As comorbid con-
for the impairment in brain function. ditions may adversely affect outcome, it may be
There is a paucity of studies that focus most appropriate to categorize individuals not
on the genetics of math learning disorder. Yet, only on the basis of their learning impairments
familial occurrences of the disorder have been but also according to comorbid conditions.
described. Shalev and Gross-Tsur (2001) found
that approximately half of siblings of individuals Memory Impairments
with developmental dyscalculia also had dyscal- Impairments in the ability to listen, remember,
culia. In a study of twins, one of whom had math and repeat auditory stimuli have been associ-
learning disorder, significantly higher rates of ated with reading disability. The holding of
dyscalculia were found in identical twins than in information in immediate and working mem-
fraternal twins (Cohen Kadosh & Walsh, 2007). ory is essential in learning to read. A number
Several psychological mechanisms have of studies comparing individuals with equiva-
been proposed for math learning disorder. In lent IQ scores but low or high reading abilities
early research, Rourke and Finlayson (1978) have reported impairments in the poor read-
found that individuals with dyscalculia showed ers on the Digit Span subtest of the Wechsler
Intelligence Scale for Children–Fourth Edition in individuals with ADHD (see Schulte, Con-
(D’Angiulli & Siegel, 2003; Wechsler, 2003). ners, & Osborne, 1999). The symptoms typi-
Executive dysfunction coupled with memory cally include inattention, impulsivity, and
impairments may adversely affect the student’s hyperactivity (see Chapter 22).
ability to choose the appropriate strategy for
solving a problem. Working memory, the area Impairments in Social Cognition
of the prefrontal cortex concerned with short Impairments in social cognition are noted often
term management of memory and attention, in individuals with learning disorders (Baum-
has also been studied and found to be of par- inger, Edelsztein, & Morash, 2005; Bauminger
ticular interest (Schuchardt, Maehler, & Has- & Kimhi-Kind, 2008). Such individuals have
selhorn, 2008). As a result, the student’s ability difficulty understanding complex emotions,
to use cognitive behavioral techniques may be tend to be socially isolated, may have few close
limited because he or she cannot remember a friends, and/or infrequently participate in social
sequence of problem-solving steps. activities. In turn, they are often overlooked or
rejected by their peers because of their odd
Impairments in Executive Functions behavior and poor school and/or athletic per-
According to Pennington (1991), executive formance. Teachers tend to rate these individu-
functions involve the ability to maintain an als as having social adjustment difficulties and
appropriate problem-solving set of procedures being easily led. There may be many reasons for
for attaining a future goal. This includes the these problems, including poor social compre-
ability to 1) inhibit or defer a response; 2) for- hension, inability to take the perspective of oth-
mulate a sequential, strategic plan of action; ers, poor pragmatic language skills, an inability
and 3) encode relevant information in memory to recognize facial expressions, and misinter-
for future use. These metacognitive abilities pretation of body language. This awareness
are necessary for organizational skills, plan- of the intent or perspective of others is called
ning, future-oriented behavior, maintaining an Theory of Mind (see Chapter 21) and sheds
appropriate problem-solving set of procedures, light on how individuals develop the means to
impulse control, selective attention, vigilance, understand the social cues sent by others so that
inhibition, and creativity in thinking. These they may develop their own awareness of social
abilities involve an awareness of what skills, situations and form appropriate responses
strategies, and resources are needed to perform (Bloom & Heath, 2010; Schneider, 2008). The
a task effectively. They also require the ability child who has a combination of a learning dis-
to use self-regulatory mechanisms to ensure the order, poor pragmatic language skills, execu-
successful completion of a task. Yet students tive function impairments, and impairments in
with learning disorders are often impulsive social cognition may be difficult to distinguish
rather than reflective when presented with a from a child who falls on the autism spectrum.
problem-solving task. This failure to consider It is likely that these conditions will be more
alternative solutions often results in errors or closely linked in the future.
a poor quality solution. Executive functions
become essential in middle school in order to Emotional and Behavior Disorders
complete homework and long-term projects,
Although associated emotional and behavioral
to sustain attention during lectures, and to set
impairments may represent endogenous bio-
future goals. Disruption in this organization
logical conditions, they also may result from
and control of behavior often manifests as dis-
the child’s experiences of school failure. Indi-
ruption in the classroom. Executive function
viduals with learning disorders can exhibit con-
impairments are also a key feature in ADHD.
duct disorders, withdrawal, poor self-esteem,
and depression, but there is no connection of
Attention-Deficit/ these social/emotional disorders to the pro-
Hyperactivity Disorder vision of services for students with a specific
Approximately one third of individuals with learning disability as mandated in federal law.
learning disorders, in fact, have attention- These individuals are less likely to take pride
deficit/hyperactivity disorder (ADHD), mak- in their successes and more likely to be over-
ing this the most common comorbid diagno- come by their failures. More than one third of
sis. Studies have found that the prevalence of students with learning disorders receive a fail-
ADHD in individuals with learning disorders is ing grade in one or more courses each school
higher than the prevalence of learning disorders year. These individuals often exhibit chronic
frustration and anxiety as they attempt to meet excessive school absences, attention impair-
the demands of skill-based tasks, such as phono- ments, or depression. A secondary learning
logical decoding, comprehension, spelling, and problem rather than a learning disability is sug-
math. This school failure, combined with social gested if learning improves once the medical
skills impairments, may lead to peer rejection, condition is brought under control (Sexson &
poor self-image, and withdrawal from partici- Madan-Swain, 1993).
pation in school activities (Maag & Reid, 2006). Individuals who were born prematurely
Eventually, these individuals may avoid going have an increased incidence of learning dis-
to school all together or act out in class in order orders. Acute disorders such as meningitis,
to obtain the attention they do not receive encephalitis, and traumatic brain injury (TBI)
through good grades. The overall dropout rate also can result in the subsequent development
of individuals with specific learning disabilities of learning problems. TBI is the most common
is twice that found in the general population of these and is an increasingly recognized cause
(U.S. Department of Education, Office of Spe- of behavior and learning problems in individu-
cial Education Programs, 2009). als (see Chapter 26). The injury may result in
either temporary or permanent neurological
HEALTH PROBLEMS SIMULATING impairments. Affected individuals present spe-
cial challenges in the classroom as a result of
SPECIFIC LEARNING DISABILITIES
the evolving nature of their recovery (Carney
Some individuals who do not have learning dis- & Porter, 2009). During the acute phase, disor-
orders may demonstrate learning differences in ders of attention and other executive functions,
school as a consequence of another developmen- higher language skills, and behavior are com-
tal disability, a chronic illness, or psychosocial mon. Because of this, TBI has been identified
problems. If these individuals are misdiagnosed as a separate category of disability under IDEA
as having a specific learning disability, efforts 2004 (see Chapter 31) to distinguish it from
directed solely at treating the learning problem specific learning disabilities and other related
will have limited success. Instead, the underly- disorders. When recovery is completed, some
ing problem must be identified and addressed. individuals with TBI may have a residual learn-
Once this problem has been treated, the learning disorder.
ing problem may well improve or disappear. Finally, psychosocial influences may affect
For example, if a child has an unidenti- the child’s ability to learn. A child who is hungry
fied sensory impairment, learning is likely to cannot pay attention or learn well. A child who
be impaired. The provision of hearing aids to a comes from a home that does not value learn-
child with hearing loss or of glasses to the child ing rarely achieves well in school. And, a home
with a refractive error may lead to a significant beset with family problems or abuse is a poor
improvement in school performance. Individu- setting in which to encourage the child’s school
als with epilepsy (see Chapter 27) also may have performance. Improvement in these psychoso-
problems in school resulting either from poorly cial areas would likely result in improved school
controlled seizures or from side effects of anti- performance but has proven difficult to achieve.
epileptic medication. Modifying the drug regi- Until a complete picture of why students in a
men may significantly improve both attention particular school are identified as having pro-
and learning. Individuals with psychiatric dis- files of underachievement—and until the role of
orders (see Chapter 29) also may fail in school. factors such as poverty, prematurity, nutrition,
The use of psychotropic drugs and psychother- and environmental threats (e.g., lead poison-
apy often leads to significantly improved school ing and other environmental toxins) are fully
performance, although some of these drugs can understood and accommodated—educators will
have an adverse effect on attention. (For spe- continue to struggle to reconcile cognitive dis-
cific information on medication side effects, see abilities and effective instructional practices.
Appendix C.) What is vital to the improvement of this
An increased incidence of learning prob- state of affairs is greater attention to how school
lems also has been described in individuals with teams obtain and use information that identi-
such chronic illnesses as diabetes, HIV infec- fies learning disabilities and the resources avail-
tion, sickle-cell disease, cancer, and chronic able to treat the disability in the school, school
kidney and liver disease (see Chapter 28). In district, and community. All existing informa-
these situations, a learning disability may exist, tion should be used in the educational process.
but learning difficulties also may result from Medical or educational assessments by qualified
other causes such as physiological derangement, examiners, combined with the assessment data
developed by the school, serve as the founda- to ensure the student’s academic growth. Stan-
tion for developing an effective educational dardized proficiency testing must be combined
program, and optimizes the use of related ser- with authentic assessment, norm-referenced
vices (see Chapter 31). as well as criterion-referenced tests, informal
assessment, and portfolio assessment to obtain
the full picture of how the student is progress-
ASSESSMENT PROCEDURES ing. This permits connecting and applying this
The assessments used to identify students with information to the content the student is learn-
a specific learning disability are individually ing. If this does not occur, inappropriate treat-
administered tests designed to reveal both the ment recommendations can result. Labeling a
strengths and the challenges of the child so that test-taker as a “low achiever” does no service
comprehensive recommendations can be made to the student. Well-documented strengths and
to support the student. A school team, includ- challenges lead to a more serviceable IEP.
ing the parent and student (when appropriate) Continued periodic assessment of progress
reviews all assessments and determines the in the class is also required. This periodic “snap-
appropriate level of services needed to accom- shot” of achievement allows the effectiveness of
modate the student’s learning needs. These the program to be evaluated and the instruc-
recommendations are written into the indi- tional program to be adjusted. Periodic reas-
vidual education program (IEP) with explicit, sessment of cognitive and executive functions is
measurable goals and objectives, as well as the warranted if the student is failing to progress.
clear description of how progress will be evalu- In addition, annual assessment of academic sub-
ated (see Chapter 31). Recommendations may jects is important to determine the progress the
include specific programmatic interventions child has made and the effectiveness of the pro-
in reading, writing or mathematics, grouping gram. This aligns with the purpose of response
strategies, or even additional therapeutic inter- to intervention as well as the federal mandates
ventions from specialists (Fletcher, Lyon, Fuchs of No Child Left Behind.
& Barnes, 2007).
The No Child Left Behind Act of 2001
INTERVENTION STRATEGIES
(PL107-110) requires another, ongoing kind
of assessment of all students, including those The primary goal of intervention is to facilitate
with learning disorders. These assessments are the acquisition and expression of the knowledge
viewed as vital indicators of the success of the needed for effective performance in school and
school in demonstrating student achievement then in the workplace. The objectives are to
and effective instruction. Although accommo- achieve academic competence, treat associ-
dations in those assessments such as increased ated impairments, and prevent adverse mental
time may be permitted, they must be specified health outcomes. This requires the cooperation
clearly in the IEP, and not all students with spe- of educators, health care professionals, and fam-
cific learning disabilities will be granted these ilies. If individuals with SRD are not provided
accommodations. with an intervention program composed of
Psychological, language, and educational instruction in phonological awareness, sound–
tests are the mainstay of assessment in school- symbol relations, and contextual reading skills
age individuals (see Chapter 16). However, a before the third grade, at least three quarters of
complete medical, behavioral, educational, and these individuals will show little improvement
social history also should be taken in order to in reading throughout their later school years
consider confounding variables that may simu- (Shaywitz & Shaywitz, 2005). If given intensive
late or worsen a learning disorder (Francis et remediation, however, improvement can occur
al., 2005; Lyon, Shaywitz, & Shaywitz, 2005). (Lovett & Steinbach, 1997).
Simply looking at the discrepancy between In addition to treating the core learning
potential and actual achievement can lead to disorder, intervention strategies need to focus
misclassification of the students’ needs. Evalua- on associated cognitive, attention, language,
tors need to use procedures for assessment that perceptual, and sensory impairments. Imma-
provide more information than a simple statistic turity, lack of motivation, and poor impulse
as an indicator of a student’s abilities (Grigore- control also must be considered in determining
nko, 2009). The global standardized assessment the child’s needs for remediation (Bakker, Van
tools, such as IQ tests, are not sensitive enough Strien, Licht, & Smit-Glaude, 2007). Interven-
to allow the instructional program to be tailored tion must recognize the developmental changes
that occur as the student gets older. It must be of a vocabulary (for general communication,
sensitive to the changing demands of the cur- usage, and technical use) and enhance the stu-
riculum, the typical developmental challenges dent’s ability to comprehend the message of the
faced by the child, and the effects of matura- text they are reading.
tion and intervention on the academic abilities Reading proficiency depends on phono-
of the student. In addition, successful interven- logical processing and alphabetical mapping.
tions must not be withdrawn prematurely. Phonics instruction, however, is different from
Professionals continue to debate the most phonological awareness training (Shaywitz,
effective intervention strategies. A major consid- 2005). Clark and Uhry (1995) defined phonics
eration is whether to teach to the child’s abilities as a low level of rote knowledge of the associa-
(i.e., compensation/circumvention strategies) or tion between letters and sounds. Phonological
the disabilities (i.e., remedial strategies). Little awareness, on the other hand, includes higher-
evidence supports the superiority of one approach level metacognitive understandings of word
over the other. It is generally agreed, however, boundaries within spoken sentences, of syllable
that there must be a combination of instructional boundaries in spoken words, and of how to
and cognitive interventions (Alexander & Slinger- isolate the phonemes and establish their loca-
Constant, 2004). tion within syllables and words. Regardless of
the method chosen, the major goal of reading
Instructional and instruction is to improve phonological aware-
Other Types of Interventions ness (the sublexical aspect of reading) so that
there is effective word recognition and compre-
The following is a review of some interventions hension of meaning (the lexical aspect of read-
in reading, writing, mathematics, and other areas. ing). Reading activities focus on helping the
child gain print awareness and become attuned
Reading
to the sound characteristics of language (pho-
In 2000, the National Reading Panel released neme awareness) and letter–sound relationships
its report on research-based reading instruc- (the alphabetic principle).
tion (National Institute of Child Health and In elementary school, reading instruction
Human Development, 2000). The panel identi- includes methods designed to increase skills in
fied the following six essential components to a acquiring vocabulary, using syntax, and under-
sound reading program: 1) phonemic awareness; standing meaning (Alexander & Slinger-Con-
2) phonics skills; 3) fluency, accuracy, speed, and stant, 2004; Schatschneider & Torgesen, 2004).
expression; 4) reading comprehension strategies Many different approaches are proposed for the
to enhance understanding; 5) teacher education; teaching of reading. Table 23.1 lists some of
and 6) computer technology. Once decoding is the techniques and the aspect of reading upon
unlocked, students are able to use these skills to which they focus. No single model suffices for
build fluency. The focus can then shift to inter- all individuals. In the final analysis, semantic
ventions that support and develop the expansion (the meaning of words), syntactic (the rules
Table 23.1. Focuses and techniques for reading instruction

Focus Examples
Explicit phonics training Alphabetic Phonics (Cox, 1985)
Orton-Gillingham (Gillingham & Stillman, 1997; Orton, 1937;
Sheffield, 1991)
Recipe for Reading (Traub & Bloom, 2000)
Wilson Reading System (Wilson, 1988)
Sounds (oral-motor characteristics of Lindamood Phoneme Sequencing Program for Reading, Spell-
speech) ing, and Speech (LiPS; Lindamood & Lindamood, 1998)
Overlearning basic skills to increase skill Reading mastery
level
Comprehension Project READ (Calfee & Henry, 1986)
Oral reading to increase comprehension by Retrospective Miscue Analysis (Goodman & Marek, 1996)
focusing on miscues and errors Word Study (Bear et al., 1996)
At-risk children Reading Recovery (Clay, 1985)
Success for All (Slavin et al., 1990)
that govern the ways words combine to form These schemata all help students retain the mes-
phrases), and graphophonemic (using com- sages they get through their reading. The intent
bined letters and sounds to decode words) sys- of these strategic reading methods is to provide
tems must be united for successful reading. the reader with ways to chunk or otherwise par-
Along with knowledge of phonics, efficient tition their reading material into segments that
reading requires a rapid sight vocabulary (words they can “digest” as they read in order to expand
recognized on sight, without sounding them the reading “diet.” The goal of such instructional
out phonetically). Different word recognition interventions is movement toward higher levels
strategies include analysis of sound (phonics or of critical thinking. By attaining these skills, the
phonetics), analysis for structure (visual config- student can compete with peers in academic
uration), and use of memory skills to recognize tasks that connect reading to other skills, such as
words as total entities (whole-word approach). writing and oral discussion.
Comprehension strategies center on develop-
ing the ability to draw meaning from text, often Middle School and High School
using a sequence of books that introduces words The mandates of No Child Left Behind, as well
and concepts in a gradual progression. as the requirements of school districts for the
Many students with a reading disability acquisition of credits toward graduation, have
need an adjustment in the curriculum. Some raised the bar for the attainment of a diploma.
methods of teaching reading, such as Orton- In addition, a diploma is not acquired by pass-
Gillingham, Wilson, and Lindamood Bell, ing courses alone. High school students must
employ multisensory approaches (Birsh, 2005; demonstrate the ability to pass statewide-
Ritchey & Goeke, 2006) for the remediation of standardized measures of mastery of core sub-
difficulties in efficient sound–symbol process- jects as well. The path toward independent
ing. Other approaches include 1) whole lan- adulthood, higher education, and continued
guage (reinforcing a spectrum of language arts); training for skills needed for employment has
2) thematics (utilizing content areas conceptu- a distinct “turn” as students move into middle
ally); 3) literature-based methods (using trade school and then into high school.
books to build on basal program skills); 4) indi- The demands of middle school and the
vidualized reading programs (using trade books pressures of high school programs can be very
and alternative literature forms to build per- trying for students with learning disorders. As
sonal reading); 5) language experience (having individuals move from the structure of elemen-
students generate their own reading material); tary school to middle and high school, the
and 6) functional skills (involving the use of demands of content reading become an addi-
materials involved in daily living—e.g., forms, tional burden. The discrete skills of content
notices, directions). reading and the related study skills needed for
Teachers at all levels and in all types of class- success in secondary education are divided into
rooms can give students with SRD tools such as two approaches. One is a direct instructional
1) graphic organizers (a visual representation approach that separates skills from content, and
of the material a student is learning that assists the other is a functional approach that embeds
the student in brainstorming and/or organiz- reading and study skills into the content.
ing information to make it easier to understand In middle and high school, the reading
how ideas connect); 2) anticipation guides (“a process must connect with other skills needed
study guide that prepares students to identify for mastering content-related matter in subjects
the major themes and concepts of a written work such as social studies, geography, higher-level
through a series of statements that address the mathematics, and sciences. Study, organiza-
concepts, rather than the story,” www.educational, and problem-solving skills must blend
tion.com, n.d.); 3) question/answer strategies; with the processing skills involved in obtaining
4) think-alouds (“a form of explicit modeling in meaning from words, sentences, charts, maps,
which teachers give an oral description of the books, poetry, and dramatic or narrative litera-
cognitive processes they go through as they read ture. Meaning is easier to teach in the elemen-
with their students so that students can under- tary and middle grades than in high school,
stand how a successful reader approaches a text,” when it may become buried in nuances of lan-
www.education.com, n.d.); 5) charting and out- guage, such as humor, sarcasm, and metaphor.
lining; and 6) induced imagery (mental imagery The expertise of general educators in mid-
that we experience while reading induced by dle and high schools is in the content they teach
instruction that has powerful effects on compre- and not in the instructional mechanisms that
hension, memory, and appreciation for the text). help students organize, retrieve, and explain
text related to that content. In addition, second- of Young Children (1998) issued a joint posi-
ary school requires learning multiple content tion statement that advocated a developmental
areas in discrete settings with several different approach to teaching writing as an outgrowth
teachers. Consequently, the student with SRD of the reading process. Their position is that
may become a “cumulative deficit” reader who students should be moved from the initial, pre-
makes progress but at a rate that is too slow to phonemic, and phonemic attempts at spelling
maintain adequate academic achievement. The toward correct, conventional spelling of Eng-
content teacher, therefore, needs to understand lish words. The process, however, should reflect
not only the demands and organization of his or an understanding of the developmental level
her content but also how students must orga- and needs of the individual student.
nize that content from lessons so that they can Content area literacy calls for connections
use it in the many forms that secondary school between reading and writing and the develop-
demands (e.g., exams, research papers, debates). ment of study skills and organization of written
materials so that they are retrievable for later
Writing use. Interventions in this area may call for stu-
As much as reading dominates the instructional dents to share their writing with peers and to
day of students with SRD, students with dys- examine the writing styles of others. Among the
graphia have specific disabilities in processing research-based strategies that assist the student
and reporting information in written form. with writing disabilities is self-regulated strat-
Writing is firmly connected to reading and egy development (SRSD), a six-step cognitive
spelling because comprehension and exposi- strategy model designed to make the writing
tion of these skills are demonstrated through process complete, automatic, and flexible for
production of written symbols as indicators all subjects (Graham & Harris, 1989; Harris &
of understanding (Berninger & Wolf, 2009; Pressley, 1991; Read, 2005).
Mason & Graham, 2008). Although writing is Writing is also a socio-cultural endeavor,
a representation of oral language, it also must representing a cognitive process learned
convey meaning without the benefit of vocal through dialogic interactions, expressing the
intonation or stress. This makes additional social and cultural perspectives of the student
demands on the writer. (Englert, 1992). The difficulties that a student
Problems in writing may result from either with a learning disorder may have with social
an inability to manipulate a pen and paper to perception and awareness of cultural aspects of
produce a legible representation of ideas or personal development may influence the writ-
an inability to express oneself on paper. Word ten product as well as the writing process.
processors can assist individuals who have dis-
abilities related to the manipulation of the writ- Mathematics
ing implements (Bain, Bailet, & Moats, 2001; Students with a math learning disorder have an
MacArthur, 2009). Remedial and instructional impaired ability to perform basic math opera-
techniques that are helpful with problems of tions (i.e., addition, subtraction, multiplication,
written expression include the use of 1) open- division) and/or to apply those operations to
ended sentences; 2) probable passages (a strategy daily situations (Mazzocco, 2007; Raghubar et
used to draw on a student’s prior knowledge of al., 2009). Often, however, the problem is in
a topic while incorporating writing into a basic understanding the abstract concepts of math-
reading lesson); 3) journal keeping; 4) modified ematical usage (Mabbott & Bisanz, 2008).
writing systems, using rebuses or other sym- When students with dyscalculia have only
bols; and 5) newspapers and other print media written math problems to solve, the concepts
to demonstrate various writing styles and orga- remain vague. When functional applications
nizational models. (e.g., involving money, time) and manipula-
Not to be forgotten is the connection of tives are used, however, the student can connect
spelling to writing. The developmental stages the concepts to their practical applications and
of spelling need to be explored as teachers demonstrate greater understanding. For some
approach instruction that connects what is read individuals with this disorder, a calculator may
to the written response of students. These stages prove helpful. Thus, teaching may focus on the
include prephonemic, phonemic, transitional, use of money in fast-food restaurants (e.g., mak-
and conventional spelling (Bear & Templeton, ing change), grocery shopping (e.g., comparing
1998). The International Reading Association prices per unit of weight), banking (e.g., balanc-
and the National Association for the Education ing a checkbook, calculating interest), cooking
(e.g., measurement), and transportation (e.g., The concepts, principles, and proce-
reading, keeping to schedules). dures that are part of mathematics instruction
The language aspects of instructing stu- increase in difficulty through the grades, and so
dents with a math disability, especially those the identification of a math disability may fol-
who also have SRD, have been studied to deter- low the student throughout his or her school
mine how the reading process influences perfor- career. Geary and Hoard (2005) described the
mance in numeric problem solving (Anderson executive functions that are disrupted, namely
& Lyxell, 2007; Fuchs & Fuchs, 2002; Powell, regulation of attention and the ability to distin-
Fuchs, Fuchs, Cirino, & Fletcher, 2009). For guish between relevant and irrelevant numeric
students with both reading and math disabili- associations in solving problems.
ties, problems requiring addition were easier For many students with mathematical dis-
to solve than problems requiring subtraction; abilities, the more abstract levels of mathemat-
and problems requiring making change were ics, such as algebra, geometry, and calculus,
also more difficult to solve than those requiring may remain mysteries forever; however, these
addition. Powell and colleagues (2009) investi- students can still gain facility with basic math-
gated how much the format of word problems ematical facts used in daily life (Mercer & Pul-
connects to numeric ability. They discovered len, 2004). Many schools teach students how
that students with math disability demonstrated and when to use calculators so that more com-
an improved ability to solve word problems in plex problems can be simplified or homework
math by using diagramming as an intervention checked for accuracy. In addition, computer-
(Van Garderen, 2007) to incorporate visuo- assisted instruction in mathematics may provide
spatial reasoning. opportunities for practice and reinforcement.
The importance of adequate assessment
tools in the determination of math disability was Training in Social Cognition
discussed by Lembke and Foegen (2009), whose
The maintenance of self-esteem and the devel-
research in early numeracy (the ability to under-
opment of social cognition are very important
stand and work with numbers) posited the rela-
in preventing adverse mental health outcomes
tionship of number sense to phonemic awareness
in a child such as Donald with SLD (Erlbaum
in reading. As indicators of math performance
& Vaughn, 2003; Gans, Kenny, & Ghany, 2003).
among primary grade students, they identified
The teacher can encourage this by giving the
the skills of quantity discrimination, number
child special jobs in the classroom and by sup-
identification, and missing number identifica-
porting participation in extracurricular activities
tion as three strong predictors of early math-
such as sports, scouting, music, drama, arts and
ematical success. Assessment and determination
crafts, and so forth. Social skills training also can
of the possibility of other disabling conditions
be provided in a group setting (using role-play
that might affect learning was also the concern
techniques) and in summer camp programs.
of researchers, especially the combined impact of
reading and math disabilities (Dirks, Spyer, van
Counseling
Lieshout, & de Sonneville, 2008). Limited study
has been done on this combined disability effect, Counseling may be required to treat underlying
and Dirks and colleagues estimated that more mental health issues in children with a learn-
than 7% of students have both SRD and math ing disorder. This can be provided individu-
disabilities. ally or in groups. Family-centered counseling
Powell et al. (2009) demonstrated the effec- also may be appropriate. Issues to be discussed
tiveness of an approach that emphasizes problem may include homework, behavior manage-
type for solving mathematical word problems ment techniques, parental expectations, and
and complex operations (e.g., multiplication). the child’s self-esteem. Families also should be
Another approach, emphasizing executive func- provided a source of information about learning
tion, involves rehearsal, practice, and mastery disorders, support groups, and their legal rights
of math skills in combination with corrective and responsibilities in the education of their
and positive feedback throughout the process child. In addition to support for families as they
of instruction. A metacognitive approach can get help for their child with learning disorders,
give students with dyscalculia hope for greater these families, especially parents, may need help
success and facility in progressing to higher in addressing their own feelings of grief or pow-
and more complex mathematical operations erlessness in assisting their child toward inde-
(Desoete, Roeyers, & Buysse, 2001; Keeler & pendence in adulthood, higher education, and
Swanson, 2001). employment.
Medication an opportunity to convey new information to

Although learning disorders cannot be “cured” the family and ensure that it is obtaining appro-
through the use of medication, certain associated priate resources. Finally, it is a time for retesting
impairments that affect learning, such as ADHD the child and revising the educational program.
(see Chapter 22) and behavior and emotional These reevaluations should occur yearly, usu-
disorders (see Chapter 29), can be improved with ally in the spring, so that planning for the next
the use of psychoactive drugs. If such drugs are school year can occur.
used, their effectiveness must be monitored care-
fully. Medication should never be a substitute for OUTCOME
sound educational programming.
Academic preparation of students with learning
Homework disorders is permitting more and more students
to pursue postsecondary education. However,
The home and school should be able to func- the average college student with SRD reads only
tion in partnership so that homework does not at about a tenth-grade level (Hughes & Smith,
lead to tension among family members or mis- 1990; Mason & Mason, 2005). These students
understanding of the teacher’s intent in provid- also read more slowly, make more spelling
ing the home assignment. This may require errors, and acquire less information from texts.
assisting the parent to set up a workable system They tend to have difficulty in writing essays,
and schedule at home. Students with learning completing heavy reading assignments, scoring
disorders often feel that homework is an impo- well on timed tests, and learning foreign lan-
sition, providing no personal fulfillment or guages (Denckla, 1993; Duquette & Fullarton,
advancement (Nicholls, McKenzie, & Shufro, 2009; Murray & Wren, 2003). Many colleges
1994), so individualization and creative use of now offer adjustments to program loads and
assignments is essential for homework to ful- schedules as well as tutorial and other support
fill its reinforcing purpose. Homework should services, which have permitted students with
supplement material that was taught during learning disorders to complete college at an
the day (Alvermann & Phelps, 2005). Tech- increasing rate (Jones, Long, & Finlay, 2007).
niques to facilitate homework performance The National Center on Educational Sta-
include parents’ reading and reviewing difficult tistics reports that in the 4-year period after
material with the child and teachers, minimiz- leaving high school, 25% of students with
ing the need for rote exercises such as copying. learning disorders participate in postsecond-
Homework should be limited to a specific time ary education, with nearly 9% attending 4-year
allotment; for example, 10–20 minutes per day institutions, slightly more than 13% attending
for individuals in kindergarten through second 2-year institutions, and slightly more than 6%
grade and 30–60 minutes per day for individu- participating in vocational or technical training
als in Grades 3–6. Ideally, homework should be programs (Seo, Abbott & Hawkins, 2008). In
completed in a specific area of the home that is addition, more than 77% of these individuals
quiet, organized, and stocked with needed sup- are competitively employed (U.S. Department
plies. Children with learning disabilities may of Education, 2008).
also not bring homework assignments home Career education should be an objec-
either to avoid doing them or because they tive of educational programming beginning in
forgot, so communication with the teacher is the primary grades. Such training for students
essential. Some schools now post homework with learning disabilities begins with realistic
assignments on the Internet or through e-mails counseling resulting from a comprehensive
to parents. assessment of abilities and aptitudes. Without
appropriately directed training, students may
Periodic Reevaluations be unable to support themselves in an indepen-
The treatment programs for students with dent manner as adults; also, if vocational reha-
learning disabilities are complex, and many bilitative services are delayed until adulthood,
potential gaps exist. Furthermore, the child they are less likely to be effective. The design
is a developing organism whose needs and of these programs becomes part of the student’s
abilities change from year to year. There- IEP (see Chapters 31 and 40).
fore, ongoing monitoring is essential. The Career planning and training, which
goal of periodic reassessments is to evaluate usually begins in high school, consists of
academic progress, psychosocial issues, and counseling, assessment, and training in the
parent–child relationships. Reassessment is also hands-on skills that future jobs require. The
U.S. Department of Labor (1992) published SUMMARY

competencies that have been determined to be
necessary for employment. These reports by A specific learning disability is a developmen-
the Secretary’s Commission on Achieving Nec- tal disorder in which a healthy child with typi-
essary Skills (SCANS) have been translated into cal intelligence fails to learn adequately in one
curriculum areas that deemphasize specific job- or more school subjects. The underlying cause
related tasks while teaching general competen- of these disorders is aberrant brain function,
cies that cross all job markets. such as impaired phonological decoding in
Even as adults, some individuals with SRD. Neuroimaging, genetic, and neuropsy-
learning disorders have poor retention of ver- chological studies are providing insight into
bal instructions and other problems that may how the brain guides learning. Early detection
interfere with effectiveness in their jobs. They of learning disorders is important because, if
also may be hesitant to ask questions and seek untreated, the child may develop secondary
assistance. Social immaturity, clumsiness, and emotional and behavior problems that hinder
poor judgment may make social interactions progress. If a learning disorder is suspected, a
more difficult. The skills taught in career edu- psychoeducational evaluation should be per-
cation are those required to overcome these formed to identify areas of strengths and chal-
impairments and enhance success in the work lenge. Then the education team can develop
environment, be it the classroom or the adult an IEP and appropriate changes in curriculum
job market. Cooperation, respect, responsibil- and supports can be made. No single treat-
ity, teamwork, organization, and ways to seek ment method is ideal for all individuals, so an
information to solve one’s problems are all part empiric approach may be needed to find the
of career education (U.S. Department of Labor, most useful method. Studies also suggest that
1992). the amount of time spent in remediation/prac-
Long-term outcomes appear to depend less tice is very important. Career and vocational
on the specific method used to help the student education should be included into the general
than on the amount of time spent on remedia- educational curriculum and included as an
tion/practice, the severity of the learning disor- individualized transition plan within the IEP.
der, the age at diagnosis and intervention, the Although the individual with SLD usually car-
IQ score, the presence of a comorbid condi- ries his or her learning impairment into adult-
tion, the socioeconomic status of the family, the hood, outcome is often good.
child’s motivation to learn, and the family sup-
port system (Satz, Buka, Lippsett, & Seldman, REFERENCES
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24 Cerebral Palsy
Alexander H. Hoon, Jr., and Frances Tolley

■ Understand the definition and causes of cerebral palsy
■ Understand how cerebral palsy is diagnosed
■ Know the clinical characteristics of the various forms of cerebral palsy
■ Know the sensory, cognitive, and medical problems commonly associated with
cerebral palsy
■ Understand the range of management options available to help children with
cerebral palsy reach their full potential
■ Be knowledgeable about the medical and functional prognoses for cerebral
palsy
Many children with cerebral palsy (CP) first to the fact that he was born at 28 weeks’ gesta-
come to professional attention because of tion, with a birth weight of 900 grams, follow-
delayed motor milestones, particularly walking. ing spontaneous labor associated with maternal
Most parents know that children begin walking chorioamnionitis (an infection of the membranes
at about 1 year of age, and there is an implicit surrounding the fetus). In the neonatal intensive
understanding that a child’s first steps mark the care unit (NICU), he required ventilatory support
transition from infancy to toddlerhood. When a
for 5 days. At 2 weeks of age, a cranial ultra-
young child does not reach this transition at the
sound study suggested an abnormality of brain
expected time, alarm bells sound.
white matter (see Chapter 7).
At his 12-month well-child checkup, his
■ ■ ■ JAMAL
mother noted that Jamal had been sitting for
Jamal is a 15-month-old boy seen by his pedi- about 2 months. His pediatrician explained to
atrician for a routine well-child checkup. His his mother that based on age adjustment for
mother expressed her worry that Jamal was prematurity (9 months corrected age), he was
not yet walking. His pediatrician had previously only mildly delayed compared with chronologi-
documented mild delays in motor development cal age expectations. Jamal’s leg muscles were
at the 12-month office visit. This was attributed a little stiff, but his pediatrician knew that many
423
424 Hoon and Tolley
premature infants have mild, temporary abnor- weight, multiple-gestation pregnancy, infec-
malities of muscle tone that often resolve by tion/inflammation, hypoxia-ischemia, and a
15–18 months of age. variety of genetic factors can underlie the devel-
On examination at 15 months, Jamal could opment of CP (Pakula, Van Naarden Braun, &
crawl stiffly on all fours but was not yet pulling up Yeargin-Allsopp, 2009).
to a standing position. He showed a pronounced Although CP is considered a static (non-
progressive) insult, its functional manifestations
tendency to keep his legs stiffly extended with
can “progress” in several different ways. For
his toes pointed and his feet crossed at the
example, children with early hypotonia associ-
ankles (scissoring). At this point, his pediatrician ated with birth asphyxia may develop spasticity
expressed concern that he had CP. or dystonia years later (Scott & Jankovic, 1996).
This may be of the result of maladaptive plas-
WHAT IS CEREBRAL PALSY? ticity (Johnston, 2009), wherein brain rewiring
is faulty. As another example, adults with dys-
CP describes a group of chronic childhood kinetic forms of CP (see Subtypes of Cerebral
motor impairment disorders defined by spe- Palsy) are prone to develop secondary spinal
cific functional characteristics rather than by cord compression from long-term abnormal
the underlying cause. The hallmarks of CP are repetitive head and cervical spine movements.
limitations in mobility and hand use in associa- This leads to progressive weakness and loss of
tion with signs of neurological dysfunction. CP function (see Figure 24.1). Finally, there may be
is characterized by impaired control of move- progressive orthopedic deformities secondary
ment and posture that appears early in life to spasticity, chronic muscle shortening, and
(Jacobsson et al., 2008). There is variability in joint dislocations.
overall motor function, with commonly associ-
ated nonmotor impairments in sensation, cog-
nition, communication, and behavior. There
WHAT CAUSES CEREBRAL PALSY?
are also commonly associated medical condi- The underlying causes and risk factors leading
tions, including strabismus and epilepsy (Bax et to the development of CP disrupt the devel-
al., 2005). opment of neuronal networks in cortical and
The clinical features of CP are the result subcortical pathways that control movement.
of developmental disturbances that occur dur- A key concept in understanding the causes of
ing early brain development, leading to brain CP is selective vulnerability (Johnston, 1998).
malformation or injury. These disorders most This term refers to a susceptibility of specific
often occur during fetal development or in the regions and cells to injury during specific time
perinatal period, but they may also arise dur- periods in brain development. Between 24–34
ing the first years of life. Prematurity, low birth weeks of gestation, immature oligodendrocytes
Figure 24.1. The white arrows point to areas of injury in the cervical spinal cord of two
adults with dyskinetic (extrapyramidal) cerebral palsy as a result of cord compression
from the chronic stress placed on the cervical spine (C-spine) from repetitive movement.
These findings require emergent spinal fusion to stabilize the neck and to prevent the
development of acute paralysis. Adults with cerebral palsy and new neurological find-
ings should have a brain magnetic resonance imaging (MRI) and C-spine MRI.
Cerebral Palsy 425
(white matter cells that wrap myelin around identification of certain rare but often treatable
axons) are susceptible to injury. This contrasts disorders, such as dopa-responsive dystonia,
with full-term infants, where the vulnerability which is treatable with levodopa (Mink, 2003),
lies in deep grey matter neurons in the basal mitochondrial disorders (Koene & Smeitink,
ganglia and thalamus. In children born preterm 2009), and organic acidemias (Seashore, 2009),
with spastic forms of CP, periventricular white treatable with metabolic therapies. Etiologic
matter injury, or periventricular leukomalacia diagnosis is also of benefit in establishing
(PVL), is linked to oligodendrocyte injury. In both prognosis and recurrence risk in future
term infants with asphyxia (perinatal hypoxic- pregnancies (Hemminki, Li, Sundquist, &
ischemic encephalopathy, HIE) or kernicterus Sundquist, 2007).
(resulting from markedly elevated bilirubin lev-
els), the injury in deep grey matter structures
EPIDEMIOLOGY
is often linked with dyskinetic (dystonic) forms
of CP (see Figure 24.2). The recognition of In the developed world, CP affects about 2 in
selective vulnerability has led to new treatment 1,000 children (Himmelmann, Hagberg, &
approaches in the NICU setting, including the Uvebrant, 2010). In developed countries, CP
use of hypothermia (lowering body tempera- is most commonly associated with prematurity
ture) to ameliorate brain injury in term infants and low birth weight. Approximately 50,000
with HIE (Barks, 2008). very low birth weight (less than 1,500 grams)
A common misconception is that most infants are born in the United States each year,
cases of CP result from birth asphyxia (HIE; of whom 10%–15% develop spastic CP and
see Chapter 6). HIE is defined as a disruption 20%–50% develop disorders of higher corti-
of blood flow (ischemia) and oxygen supply cal function, including learning disabilities
(hypoxia) to the brain as a consequence of prob- and intellectual disability (Volpe, 2005). The
lems encountered at the time of birth (MacLen- incidence of CP increases with decreasing ges-
nan, Nelson, Hankins, & Speer, 2010). It is now tation and may occur in up to 20% of infants
clear that birth asphyxia is the cause of CP in born before 28 weeks of gestation (Ancel et al.,
only 10%–20% of affected children (Han- 2006). Despite advances in perinatal manage-
kins & Speer, 2003; Nelson & Grether, 1999; ment over the last 20–30 years, the incidence
Pschirrer & Yeomans, 2000). of CP in term infants has not changed. This is
A key concept in addressing CP is the rec- consistent with the understanding that CP in
ognition that understanding the underlying full-term infants most commonly results from
cause improves overall management. Approach- prenatal insults or genetic conditions that are
ing diagnosis with a full appreciation of the independent of factors associated with delivery
wide range of genetic etiologies promotes the (Nelson & Ellenberg, 1986).
Figure 24.2. These images demonstrate the selective vulnerability of specific regions in
the brain in infants born at term with asphyxia. A) The white arrow points to injury in the
putamen; the black arrow points to injury in the thalamus. B) The white arrows point to
injury in the motor cortex. This pattern of injury often leads to dyskinetic (dystonic) cerebral
palsy, with limitations in speech and hand use.
426 Hoon and Tolley
RISK FACTORS less than 1,500 grams, represent almost half of

all individuals with CP (Hagberg, Hagberg,
Infection Beckung, & Ubrevant, 2001; Marlow, Wolke,
Bracewell, & Samara, 2005; O’Shea, 2002; Red-
Both indirect (passed from the mother) and
dihough & Collins, 2003; Vohret et al., 2005;
direct infection of the fetus and/or newborn
Winter, Autry, Boyle, & Yeargin-Allsopp, 2002).
infant have been shown to be associated with
The increased risk of CP in premature infants
CP (Bale, 2009). In term and preterm infants,
is related to complex interrelations between
direct infection of the fetus by viruses such as
destructive and developmental mechanisms
cytomegalovirus and rubella (Lombardi, Garo-
(Volpe, 2009). In premature infants, the two
foli, & Stronati, 2010) and other infectious
most common types of injury are PVL (see Fig-
agents (e.g., toxoplasmosis, a parasitic infection)
ure 24.3) and intraventricular hemorrhage, or
has long been a recognized cause of CP. Bacte-
IVH (see Chapter 7). Immaturity of brain devel-
rial meningitis in the newborn also remains a
opment predisposes premature infants to both
significant cause of CP (Galiza & Heath, 2009).
of these conditions. In the late 1970s to early
There has been increasing recognition
1980s, cranial ultrasound and computed tomog-
that chorioamnionitis may play a key role in
raphy linked CP with brain hemorrhage. In the
the genesis of CP in preterm infants (Shatrov
later 1980s to early 1990s, the advent of mag-
et al., 2010). Chorioamnionitis predisposes to
netic resonance imaging (MRI) revealed that the
premature delivery and may also have direct
major injury was in cerebral white matter. In the
adverse effects on the fetal brain (Jacobsson,
last decade, more advanced MRI modalities have
2004; Yoon, Park, & Chaiworapongsa, 2003).
shown that the white matter injury is accompa-
Complex relationships exist between chorioam-
nied by diffuse, variable injury in cortical, sub-
nionitis, fetal cytokines (proteins that regulate
cortical, and cerebellar gray matter (Kusters,
the immune response), and other factors that
Chen, Follett, & Dammann, 2009).
can lead to white matter injury in children born
Volpe (2005) demonstrated that the abnor-
preterm.
malities in neurons and axons are the result of
In the term infant there is an association
changes in the normal developmental trajec-
between maternal infection, fever, and CP (Nel-
tory of brain development, often initiated by
son & Chang, 2008). Infection during pregnancy
hypoxic-ischemic or infectious/inflammatory
may also promote blood hypercoagulation, lead-
cascades of injury. These disturbances may
ing to stroke-like events in the fetus (Leviton
explain the complex patterns of motor, learn-
& Dammann, 2004; Nelson & Lynch, 2004).
ing, intellectual, and neurobehavioral impair-
Finally, placental infection may contribute to the
ments encountered in affected children.
development of HIE (Wu, 2002).
Finally, in children such as Jamal, there
is evidence, using the advanced MRI imag-
Prematurity-Related Cerebral Palsy
ing technique diffusion tensor imaging, which
Premature infants, especially those born prior to shows white matter tracks, that functional
28–32 weeks of gestation or with a birth weight impairment may result from injury to both
Figure 24.3. This MRI was taken in childhood from a child with PVL who had spastic quadriplegia. The arrows point to areas of
injury or destruction of brain white matter (wiring). The enlarged ventricles (ventriculomegaly) are secondary to loss of surround-
ing brain tissue. (From Hoon, A.H., & Melhem, E.R. [2000]. Neuroimaging: Applications in disorders of early brain development.
Journal of Developmental and Behavioral Pediatrics, 21, 291–302; reprinted by permission.)
Cerebral Palsy 427
sensory and motor cortical pathways (Hoon et choreoathetoid CP and to hearing impairment.
al., 2009; Nagae et al., 2007; Figure 24.4). Although kernicterus is rare now in developed
countries, more subtle bilirubin-induced neu-
Cerebral Palsy in Full-Term Infants rologic dysfunction (BIND) continues to be a
A wide variety of prenatal, perinatal, and concern (Shapiro, 2005).
genetic factors are linked with CP in full-term
infants. These include birth asphyxia, congeni- DIAGNOSIS
tal brain malformations, coagulation abnormali-
ties, complications related to multiple-gestation CP is diagnosed clinically, based on the presence
pregnancies, and intrauterine infection/inflam- of delays in motor development and distinct
mation (Jacobsson et al., 2008; Nelson, 2008). abnormalities on the neurological examination.
Compared with those born prematurely, chil- Although newborns may have known risk fac-
dren born at term who subsequently develop CP tors for CP (e.g., PVL, HIE), CP cannot be
are more often small for gestational age or have diagnosed at birth because the classic diagnostic
malformations inside and outside of the central signs are not apparent this early. Children with
nervous system (CNS), suggesting problems in severe forms of CP are usually diagnosed in the
early brain development (Krägeloh-Mann et first year of life, while those with less severe
al., 1995). forms are usually diagnosed during the second
In full-term infants with severe birth year (Aneja, 2004; Palmer, 2004; Russman &
asphyxia, who often develop dyskinetic (ath- Ashwal, 2004).
etoid or dystonic) CP, the injury is often in the One of the key features of CP is the persis-
basal ganglia located deep in the center of the tence of primitive reflexes. All infants are born
brain (Himmelmann et al., 2009). In the past, with primitive reflexes. They are called “primi-
high bilirubin levels in the immediate postna- tive” because they are present in early life (in
tal period resulted in kernicterus, which led to some cases, during intrauterine development)
Figure 24.4. In this figure using diffusion tensor imaging and special software, three dimensional tracts of descending motor
pathways (light gray fibers) and thalamocortical sensory tracts (black fibers) are shown in a typically developing child (left panel)
and in two children with spastic cerebral palsy in association with preterm birth (middle and right panels). In the children with
cerebral palsy, the primary injury is in the blackfibers corresponding to sensory pathways. (From Nagae, L.M., Hoon, Jr., A.H.,
Stashinko, E., Lin, D., Zhang, W., Levey, E., … Mori, S. [2007]. Diffusion tensor imaging in children with periventricular leukoma-
lacia: Variability of injuries to white matter tracts. AJNR: American Journal of Neuroradiology, 28[7], pp. 1213–1222; adapted
by permission.)
428 Hoon and Tolley
and are thought to be controlled by the primi- manifested by forward extension of the arms
tive regions of the nervous system (the spinal when falling forward. Many children with CP
cord, the labyrinths of the inner ear, and the have delayed or absent development of postural
brain stem). Familiar examples of primitive reactions, including this response, which makes
reflexes include the suckling reflex and the walking inherently unsafe. CP may be viewed as
hand-grasp reflex in the newborn. As the cortex the persistence of primitive reflexes combined
matures, these reflexes are gradually suppressed with the lack of cortical maturation of postural
and integrated into voluntary movement pat- reactions.
terns (see Figure 24.5). The process of integra-
tion is usually complete by 12 months of age. Upper Motor Neuron
In CP, however, these primitive reflex patterns Dysfunction in Cerebral Palsy
tend to persist beyond early infancy. Among the
primitive reflexes, the asymmetric tonic neck The motor impairments in children with CP
reflex (Figure 24.6) and the tonic labyrinthine are secondary to injury in the upper motor neu-
response (Figure 24.7) are particularly helpful ron (UMN). The UMN system is not a discrete
in the diagnosis of CP. anatomical entity but refers collectively to the
As primitive reflexes disappear in the typi- motor control systems based in the brain and
cally developing child, postural reactions (also spinal cord. The UMN system is distinguished
known as automatic movement reactions) from the lower motor neuron (LMN) system,
emerge (Figure 24.8). Some of the more impor- which refers collectively to the peripheral
tant of these reactions are the righting, equi- nerves and the innervated muscles (Figure 24.9;
librium, and protective reactions which enable see Chapter 12). The primary components of
the child to develop more complex voluntary the UMN system are the pyramidal tract
movement and better control of posture. These (also called the corticospinal pathways) and
automatic movement responses serve as a pre- the extrapyramidal system (see Figure 24.10).
cursor for the development of specific motor These systems are differentially affected by dis-
milestones, such as rolling over and sitting. turbances to the developing brain.
In typically developing children, a protective UMN dysfunction is characterized by pos-
reaction called the parachute response devel- itive and negative signs. Positive signs include
ops by 10–12 months of age. This reaction is spasticity, hyperreflexia (increased deep tendon
Figure 24.5. This figure illustrates the time course of primitive reflexes, postural reflexes, and volitional
motor activity in typical motor development. (From Capute, A.J., Accardo, P.J., Vining, E.P.G., Rubenstein,
J.E., & Harryman S. [1978]. Primitive reflex profile. Baltimore, MD: University Park Press; reprinted by
permission.)
Cerebral Palsy 429
Figure 24.6. The asymmetric tonic neck reflex. In the typical newborn infant, when the head is actively or passively turned to
the side, the arm and leg on the same side will extend and the arm and leg on the opposite side will flex, resulting in a “fenc-
ing” posture. The opposite pattern occurs when the head is turned to the other side. In typically developing infants, the reflex
fades (is integrated) by about 6 months of age and is never obligatory (the infant can break through the pattern with spontane-
ous movement, even in the newborn period). In children with cerebral palsy, the reflex tends to be more pronounced, persists
beyond the expected age, and may be obligatory.
reflexes, e.g., the knee jerk), clonus (alternate Walking

involuntary muscular contraction and relax-
ation in rapid succession), flexor and extensor When a child is diagnosed with CP, one of the
spasms (spasms of bending of a limb toward or first questions parents pose is: “Will he or she
away from the body), and a positive Babinski walk?” In addressing this question, it is impor-
sign (upgoing toe when the sole of the foot is tant to recognize that “walking” can refer to
stroked firmly). Negative signs include muscle several levels of ability. A child may be able to
weakness, loss of manual dexterity, and fati- walk independently or may need crutches or a
gability. The profile of positive signs tends to walker. A child may be able to walk long dis-
vary more from child to child and contributes tances (community ambulation), short distances
to the classification of the subtypes of CP. It is only (household ambulation), or solely in the
the negative signs, however, that more directly context of therapy (exercise ambulation). In
impede motor function. general, children with better motor skills at a
Figure 24.7. The tonic labyrinthine reflex. A) When the child is in the supine position with the head slightly extended, retraction
of the shoulders and extension of the legs is observed. B) The opposite occurs when the infant is in the prone position with the
head slightly flexed. In typically developing infants, the reflex pattern is barely evident in the newborn period; in children with
cerebral palsy, the pattern may dominate posture and movement and may persist throughout life.
430 Hoon and Tolley
younger age (e.g., being able to sit and pull-to-

stand before 2 years of age) have a better prog-
nosis for walking than those with less
well-developed skills.
The Gross Motor Function Classifica-
tion System (GMFCS) can be used to esti-
mate prognosis for walking (Rosenbaum et al.,
2002; Wood & Rosenbaum, 2000). Children
at any level within the classification scheme
tend to stay at that level. In general, children at
GMFCS Levels I or II will have a good progno-
sis for some degree of independent ambulation.
Children at Levels III and IV will have a vari-
Figure 24.8. Automatic movement responses: the lateral
prop reaction. At about 6 months of age, typically developing able prognosis for walking with some form of
infants have already developed good postural control of the assistance, and children at Level V have a poor
head and trunk (righting or equilibrium responses) and can
stop themselves from falling forward when placed in the sit-
prognosis for any type of walking. Precise prob-
ting position by extending their arms in front of them (forward ability curves for ambulation have been pub-
prop response). By 6 months of age, most infants can also lished and allow even more exact predictions
catch themselves when falling to the side by extending the
arm on the same side (lateral prop response). This automatic of ambulatory potential based on motor func-
movement reaction is critical for independent sitting and may tioning at 2½ years of age (Wu, Day, Strauss,
be delayed or absent in children with cerebral palsy. (From & Shavelle, 2004). For example, using these
Pellegrino, L., & Dormans, J.P. [1998]. Making the diagnosis
of cerebral palsy. In J.P. Dormans & L. Pellegrino [Eds.], Car- curves it can be predicted that a child who is
ing for children with cerebral palsy: A team approach [p. 39; able to roll, sit independently, and pull-to-stand
portion of Figure 2.4]. Baltimore, MD: Paul H. Brookes Pub-
lishing Co., Inc.; reprinted by permission.)
at 2½ years of age has a greater than 70% prob-
ability of being able to engage in some form of
Figure 24.9. This figure illustrates the location of upper and lower motor neurons. Low motor
neuron dysfunction is associated with peripheral neuropathies. (From Shrestha, S. [2010].
Lesions of upper motor neurons and lower motor neurons. Medchrome Online Medical Maga-
zine, July 25, 2010. Retrieved from http://medchrome.com/basic-science/anatomy/lesions-of-
upper-motor-neurons-and-lower-motor-neurons; reprinted by permission.)
Cerebral Palsy 431
ambulation by age 7 years. By contrast, a child rotation of the hips. Toe walking results from
who can roll but cannot sit or pull-to-stand at an equinus position of the feet (Figure 24.11)
2½ years has only a 25% chance of walking and and increased extensor tone in the legs.
would most likely do this with the help of an
assistive device.
SUBTYPES OF CEREBRAL PALSY
To walk, a child must be able to maintain
an upright posture, move forward in a smoothly CP is often divided into specific phenotypes
coordinated manner, and demonstrate protec- (physical appearances) according to the neu-
tive responses for safety when falling. Even a rological findings and body limbs that are pre-
child with mild CP has difficulty with the neu- dominately affected (Koman, Smith, & Shilt,
rologic motor control required for ambula- 2004; Table 24.1; Figure 24.12). A recognized
tion. Common, treatable problems affecting classification system divides the phenotypes
gait include scissoring and equinus position of into bilateral (both sides of the body affected)
the feet. Scissoring occurs because of increased and unilateral (one side affected). This distinc-
tone in the muscles that control adduction tion is useful both in evaluating the underlying
(movement toward the mid-line) and internal cause as well as directing management of CP.
Figure 24.10. The motor control system. The upper motor neuron (UMN) system consists of the
pyramidal and extrapyramidal systems. The pyramidal system connects the motor control center of
the cortex to the brainstem and spinal cord and is responsible for the direct control of movement
and muscle tone. The extrapyramidal system consists of deep brain structures (especially the basal
ganglia and cerebellum) and works primarily by modifying and refining the output of the pyramidal
system. The lower motor neuron (LMN) system consists of the muscles and the nerves that connect
the muscles and the spinal cord, including the nerves that comprise the stretch reflex mechanism.
(From Pellegrino, L., & Dormans, J.P. [1998]. Definitions, etiology, and epidemiology of cerebral palsy.
In J.P. Dormans & L. Pellegrino [Eds.], Caring for children with cerebral palsy: A team approach [p. 10].
Baltimore, MD: Paul H. Brookes Publishing Co., Inc.; reprinted by permission.)
432 Hoon and Tolley
premotor cortex also contribute to spasticity

and UMN signs.
Spastic CP is the most common type of CP
(Krägeloh-Mann & Cans, 2009). It is further
categorized according to the distribution of
limbs involved. In spastic diplegia, the legs are
more affected than the arms. This is the type
of CP most frequently associated with prema-
turity. In spastic quadriplegia, all four limbs
and usually the trunk and muscles that control
the mouth, tongue, and pharynx are affected.
The severity of the motor impairment in spastic
quadriplegia implies wider cerebral dysfunction
and a poorer outcome than for the other forms
of spastic CP. Individuals with spastic quadri-
plegia often have intellectual disability, seizures,
sensory impairments, and other medical prob-
lems. In spastic hemiplegia, one side of the
body is more affected than the other; usually,
the arm is more affected than the leg. Because
Figure 24.11. Scissoring results from increased tone in the the motor neurons that control one side of the
muscles on the inner aspect of the thigh that tend to pull body are located in the opposite cerebral cortex,
the legs together and turn the legs inward. Toe walking is a right-sided hemiplegia implies injury to the
due to tightness of the calf muscles and Achilles tendon and
increased extensor tone in the legs. left side of the brain, and vice versa.
Dyskinetic Cerebral Palsy

Spastic Cerebral Palsy Children who have CP as a consequence of dis-
Spasticity is the abnormal increase in muscle turbances in the extrapyramidal system exhibit
tone resulting from an increased resistance atypical movements known as dyskinesias (We
to muscle stretch and lengthening. It restricts Move, 2010).These include chorea, athetosis,
voluntary movement and, over time, leads to choreoathetosis and dystonia. Rapid, random,
contractures (Barnes & Johnson, 2008). Spas- jerky movements are known as chorea; slow,
ticity is believed to arise from disruption of writhing movements which appear to flow into
the descending pathways involved in motor one another are called athetosis. When seen
control, including both pyramidal and para- together, these movements are called choreo-
pyramidal pathways. The pyramidal system is athetosis. Dystonia refers to repetitive, twist-
composed of neurons (nerve cells) that extend ing movements and distorted postures.
from the motor cortex to the brain stem and Dyskinetic CP (also known as extrapy-
spinal cord, the corticospinal tracks. These ramidal CP) is characterized by abnormalities
pathways directly control movement and influ- in muscle tone that involve the whole body.
ence muscle tone and deep tendon reflexes by Changing patterns of tone from hour to hour
inhibiting spinal cord mechanisms that direct and day to day are common. These children
these processes. In the absence of normal exhibit increased muscle tone, especially during
corticospinal inhibition, the spinal cord influ- attempted movement, and normal or decreased
ences predominate, resulting in spasticity and tone while asleep. The term athetoid CP char-
a positive Babinski sign, two of the hallmarks acterizes a form of dyskinetic CP that has been
of spastic CP. The parapyramidal fibers from associated with kernicterus. Dystonic CP is
Table 24.1. Cerebral palsy phenotypes

Bilateral spasticity Dyskinetic (“extrapyramidal”) Ataxic Unilateral spasticity
Spastic diplegia Dystonia Hypotonic Spastic hemiplegia
Spastic quadriplegia Chorea (choreathetosis) Spastic
(tetraplegia) Athetosis
Hemiballismus
Cerebral Palsy 433
associated with asphyxia as well as with a wide musculoskeletal system, whereas other forms of
range of genetic disorders. Chorea is the least spastic CP (diplegia, hemiplegia) are localized
common form of dyskinetic CP. to a particular region of the body.
Although there is some clinical utility in
Ataxic Cerebral Palsy classifying CP on the basis of neuromotor char-
Ataxia results from an abnormality in the acteristics (e.g., spasticity, dyskinesias), there
cerebellum and manifests as the inability to tends to be a great deal of functional variabil-
maintain typical postures and perform typical ity within specific subtypes. For example, some
movements. As a result, movements are jerky children with spastic diplegia may be able to
and uncoordinated, without the smooth flow walk independently, whereas others depend on
of typical motion (We Move, 2010). Ataxic CP a wheelchair for mobility. A number of func-
is characterized by impairments of voluntary tional assessment systems have been developed
movement, involving balance and position of to address this issue (Oeffinger et al., 2004; Pal-
the trunk and limbs in space. For children who isano et al., 1997; see Table 24.2). The GMFCS
can walk, this is manifested as a wide-based, (Palisano, Cameron, Rosenbaum, Walter, &
unsteady gait. Difficulties with controlling the Russell, 2006) is often helpful for planning
hand and arm during reaching (causing over- therapeutic interventions and establishing
shooting or past-pointing) and difficulties with goals for habilitation. It is more predictive of
the timing of motor movements are also seen. long-term functional outcome than traditional,
Ataxic CP may be associated with increased or impairment-focused classification schemes
decreased muscle tone. (Palisano et al., 2009).
Mixed Cerebral Palsy

ESTABLISHING THE ETIOLOGY
The term mixed cerebral palsy is used when more
(CAUSE) OF CEREBRAL PALSY
than one type of motor pattern is present and
when one pattern does not clearly predomi- In CP, diagnostic evaluation often is done in
nate over another. The term total body cere- parallel with the assessment that establishes
bral palsy is sometimes used to emphasize that the disability or functional diagnosis (Ashwal et
certain types of CP (dyskinetic, ataxic, mixed, al., 2004). Establishing the underlying etiology
and spastic quadriplegia) involve the entire can have important implications for designing
Figure 24.12. Different regions of the brain are affected in various forms of cerebral palsy. In this figure, the darker the shading,
the more severe the involvement.
434 Hoon and Tolley
treatment and for understanding prognosis and will have significant diagnostic findings on neu-
recurrence risk in future children. It also can roimaging. Cranial ultrasound, an inexpensive,
affect the parental feelings of guilt and responsi- noninvasive imaging modality, has utility both
bility. Information from the medical history and in diagnosis and management of the high-risk
physical examination is critical in establishing neonate. Ultrasonography is used for fetal and
an etiology. For example, knowing that a child neonatal screening; it can distinguish large
was born prematurely and has signs of spastic malformations of the brain from abnormali-
diplegia strongly suggests cerebral white matter ties related to brain hemorrhage or injury (i.e.,
injury. Similarly, dystonic CP in the presence of IVH, PVL). Brain anatomic MRI, however, has
a normal birth history may be associated with a been of greatest benefit in the determination of
neurogenetic disorder. causation of CP (Vermeulen, Wilke, Horber,
With regard to specialized diagnostic test- & Krägeloh-Mann, 2007). Based on an under-
ing, brain imaging is especially helpful (Accardo, standing of normal brain development, careful
Kammann, & Hoon, 2004; Ancel et al., 2006). interpretation of MRI studies can show patterns
Seventy to ninety percent of children with CP of selective vulnerability in brain structures
Table 24.2. Summary of Gross Motor Function Classification System (GMFCS)

Age
Level < 2 years 2–4 years 4–6 years 6–12 years
I: Walks without Sits well (hands free Gets up and down Walks indoors and Independent walk-
restrictions to play), crawls from floor to outdoors; climbs ing, running,
and pulls-to- standing without stairs; starting to jumping, but
stand; walks help; walking is run/jump speed, balance,
between 18 and preferred method and coordination
24 months with- of mobility reduced
out a device
II: Walks without Sits but may need Floor sits, but Transfers with arm Independent
device; restricted hands for bal- hard to keep assist; walks walking but
community ance; may creep both hands free; without device at limitations in
mobility or crawl; may mobility by crawl- home, short dis- challenging
pull-to- stand or ing, cruising, tances outside; circumstances;
cruise or walking with climbs stairs with minimal running,
assistive device railing; no run- jumping
ning or jumping
III: Walks with assis- Sits with low back Floor sits, often Sits in regular Walks indoors or
tive device; lim- support; rolls and W-sitting, needs chair with pelvic outdoors with
ited community creeps help getting to support to allow assistive device;
mobility sit; creeping free hands; walks wheelchair mobil-
and crawling with device on ity or transport
primary means of level surface; for long distances
mobility; limited transported for
assisted stand- long distances
ing/walking
IV: Limited self- Has head control, Needs hands to Adaptive seat- Maintains function
mobility; power but needs trunk maintain sitting; ing needed for achieved by ages
mobility support for adaptive equip- maximum hand 4–6 or relies
sitting; rolls to ment for sitting/ function; needs more on power
back; may roll to standing; floor assistance for wheelchair for
front mobility only transfers; walks self-mobility
(rolling, creeping, short distances
or crawling with- with assistance;
out reciprocal leg power mobility
movements) for long distances
V: Self-mobility Limited voluntary Limited control of movement and posture; all areas of motor
severely limited control of move- function are limited; adaptive equipment does not fully
even with assis- ment; head and compensate functional limitations for sitting and standing;
tive devices trunk control no independent mobility (requires transport); some children
minimal; needs achieve very limited power mobility with extensive
help to roll adaptations
Source: Palisano, Rosenbaum, Walter, Russell, Wood, & Galuppi (1997).
Cerebral Palsy 435
characteristic of the nature of the insult, gesta- Hearing, speech, and language impair-
tional timing, and severity (Barkovich, 2005). It ments are also common, occurring in about
should be noted that even a normal MRI can be 30% of children with CP. Children whose CP
of benefit, as it may lead to consideration of a is caused by congenital cytomegalovirus or
potentially treatable metabolic disorder, such as other intrauterine viral infections often have
dopa-responsive dystonia (Mink, 2003). In cer- hearing loss (see Chapter 10). Dyskinetic CP
tain circumstances, enhanced MRI techniques resulting from basal ganglia/thalamus injury is
such as diffusion weighted imaging (DWI), dif- associated with articulation problems because
fusion tensor imaging (DTI), MR spectroscopy these structures influence tongue and vocal
(MRS), and functional MRI (fMRI) can be used cord movement. In children with CP and
(see Chapter 12). They provide information typical cognitive development, expressive or
about brain metabolic function and white mat- receptive language disorders may be present
ter tracks, which in some cases are abnormal and evolve into a specific reading disability
even when brain structure appears to be normal (see Chapter 23).
(Davidson, Thomas, & Casey, 2003; Mohan, Approximately 40% of children with CP
Chugani, & Chugani, 1999; Nagae et al., 2007; develop seizures (Nordmark et al., 2001). Chil-
Watts, Liston, Niogi, & Ulu ğ , 2003). dren with more severe intellectual and physi-
cal disability are more prone to generalized
seizures (Carlsson, Hagberg, & Olsson, 2003).
Children whose CP is a consequence of brain
IN CEREBRAL PALSY malformation, infection, or severe gray matter
Many children with CP have associated impair- injury are also at greater risk for generalized
ments. The most common are intellectual seizures (see Chapter 27).
disability, visual impairments, hearing impair- Feeding and growth difficulties also are
ments, speech-language disorders, seizures, often present (Samson-Fang et al., 2002). They
feeding and growth impairments, and behavior- may be secondary to a variety of problems,
emotional disorders. including hypotonia, weak suck, poor coordi-
Assessment of intellectual functioning in nation of the swallowing mechanism, tonic bite
children with CP may be difficult because most reflex, hyperactive gag reflex, and exaggerated
tests of cognition require both motor and ver- tongue thrust. These problems may lead to poor
bal responses. Even taking these limitations nutrition and, in some cases, require the use of
into account, approximately one half of chil- alternative feeding methods, such as tube feed-
dren with CP have intellectual disability, and ing (see Chapter 9). Medical problems related
many of those with typical intelligence exhibit to poor gastrointestinal motility (including gas-
some degree of learning disability (Nordmark, troesophageal reflux and constipation) may add
Hägglund, & Lagergren, 2001). Children with to these difficulties.
the more severe types of CP are at a greater risk The combination of poor nutrition and
for more significant intellectual disability. lack of weight-bearing activities also leads to
Visual impairments are common and osteopenia (weak bones related to reduced bone
diverse in children with CP. They may be both mineral density). This places children with CP
ocular (e.g., strabismus) and central (i.e., cortical at increased risk for fractures. Bisphosphonates
visual impairment; Guzzetta, Mercuri, & Cioni, (drugs used to treat osteoporosis in older adults)
2001; see Chapter 11). The premature infant also have been shown to be effective in treating
may have severe visual impairment caused by osteopenia in CP (Hough, Boyd, & Keating,
retinopathy of prematurity. Nystagmus, or 2010).
involuntary oscillating eye movements, may These associated disorders contribute
be present in the child with ataxia. Children significantly to the issue of quality of life in
with hemiplegia may present with homono- individuals with CP (Liptak & Accardo, 2004;
mous hemianopsia, a condition causing loss of Samson-Fang et al., 2002). A comprehensive
one part of the visual field (Jacobson, Rydberg, health plan implemented in the context of a
Eliasson, Kits, & Flodmark, 2010). Strabismus, well-defined medical home is a critical compo-
or squint, is seen in many children with CP. nent to assuring that the health needs of chil-
Finally, children with CP are more prone to dren with CP are adequately addressed (Cooley
hyperopia (farsightedness) than typically devel- & American Academy of Pediatrics Committee
oping children (Sobrado, Suarez, & Garcia- on Children with Disabilities, 2004; see Chap-
Sanchez, 1999). ter 41).
436 Hoon and Tolley
COMPREHENSIVE setting is the ideal approach to management of

MANAGEMENT FOR INDIVIDUALS the child with CP.
It is very important that clinicians and
WITH CEREBRAL PALSY
families agree on specific treatments as well as
overall management goals. Recognized goals
Neuroplasticity
include improvements in function, commu-
A key starting point for discussing management nication, ease of care, and pain management.
of CP is based on an understanding of neuro- Including the child in the decision-making pro-
plasticity. The human brain grows rapidly from cess to the greatest extent possible is critical to
conception through early childhood. During successful implementation. Treatment should
this time, connections between the brain and be integrated into the lifestyles and other activ-
white matter pathways are forming. During ities and commitments of individual families.
childhood, approximately one half of these con- Other practical considerations in optimizing
nections are retained as a result of stimulation management include
through brain activity, while the other half are 1. The recognition that a specific medical
eliminated or pruned because of disuse. The treatment or therapy may be embraced by
concept of neuroplasticity is based on this selec- one family but rejected by another, even
tive pruning of connections, called synapses. It when the overall clinical findings are similar
is characterized by the ability of the brain to
2. The need for effective care coordination, and
adapt to environmental changes, to store infor-
providing a medical home (Figure 24.13)
mation in memory (associated with learning),
and to recover from brain and spinal cord injury
(Johnston, 2009). There is a great deal of infor- Principles of Management
mation in adults, especially following stroke, Management may be divided into rehabilitative,
supporting the efficacy of neurorehabilitation medical, and surgical components (Papavasil-
directed at the plasticity (the ability to change iou, 2009). Rehabilitative interventions include
in response to environmental stimulation) of conventional therapeutic approaches (physi-
the CNS (Wittenberg, 2009). cal therapy and occupational therapy), serial
The child’s brain has greater plasticity casting, orthotic bracing, strength training,
than the adult brain (Cramer et al., 2011). In aquatherapy, hippotherapy (therapeutic horse-
CP, as well as in other childhood neurodevel- back riding), and technology systems such
opmental disabilities, the overarching question
concerning plasticity involves the nature of the Figure 24.13. What is a family-centered medical
relationship between amount and timing of home?
intervention and resultant outcome (Delgado A family-centered medical home is not a building,
et al., 2010; Vargus-Adams, 2009). house, hospital, or home health care service, but
rather an approach to providing comprehensive
Overview of Management primary care.
In a family-centered medical home the pediatric
Comprehensive management for children with care team works in partnership with a child and a
CP includes both accurate diagnosis and effec- child’s family to assure that all of the medical and
tive treatment strategies. Management is based nonmedical needs of the child are met.
on the recognition that each child requires a Through this partnership the pediatric care team
unique combination of medical and rehabilita- can help the family and child access, coordinate,
tive interventions that are developed though a and understand specialty care, educational
services, out-of-home care, family support, and
team approach and tailored to the family struc- other public and private community services that
ture and goals (Pellegrino, 1995). Specialists in are important for the overall health of the child
orthopedics, neurosurgery, genetics, ophthal- and family.
mology, gastroenterology, neurology, physical The American Academy of Pediatrics (AAP)
medicine and rehabilitation, psychiatry, and developed the medical home model for deliver-
ing primary care that is accessible, continuous,
neurodevelopmental pediatrics are all integral comprehensive, family-centered, coordinated,
to developing a comprehensive medical-surgical compassionate, and culturally effective to all
treatment plan. Physical and occupational children and youth, including those with special
therapists, speech-language pathologists, audi- health care needs.
ologists, clinical and behavioral psychologists, From National Center for Medical Home Implementa-
special education consultants, and social work- tion, American Academy of Pediatrics. (n.d.). What is a
family-centered medical home? Elk Grove Village, IL:
ers are critical to developing the rehabilita- Author. Retrieved from http://medicalhomeinfo.org;
tion and educational plan. An interdisciplinary reprinted by permission.
Cerebral Palsy 437
as augmentative communication and power to their typically developing peers. Children

mobility. The focus in physiotherapy has shifted with CP have traditionally been segregated into
from traditional physical and occupational classrooms with designations such as “multiply
therapy to approaches combining principles of disabled” and “orthopedically impaired,” some-
motor learning and strength and fitness train- times without proper regard for their intellec-
ing. In addition to these physical approaches, tual needs. Inclusion is mandated by federal
specialists in social work and psychology who law (IDEA) in general education classrooms,
are aware of the effects of motor disability on in the least restrictive environment. Inclusive
other aspects of childhood development may environments, however, require significant
be of great benefit in fostering social/emotional collaboration between the general and special
growth and active participation of the child in education models and work best when a team
the rehabilitation efforts. of educators and paraprofessionals is associated
In terms of medication, the most com- with each classroom (see Chapter 31).
monly used drugs for spasticity and rigidity
include baclofen, diazepam, and botulinum Specific Rehabilitative Techniques
toxin (see Appendix C). Carbidopa-levodopa For children with CP, therapy may come in
and trihexyphenidyl have been found to be help- many different forms. Most children receive
ful for some children with dystonic CP. Tetra- traditional forms of physical, occupational, and
benazine has been used successfully in selected speech therapy. The most common method of
patients with dyskinetic CP. The purpose of all motor therapy for the young child is neuro-
these medications is to improve motor tone, developmental therapy (NDT), an approach
enabling more physical activity and/or lessening employed by both occupational and physical
pain. Orthopedic surgical interventions include therapists. It is designed to provide the child
tenotomies, tendon transfers, and osteotomies with sensorimotor experiences that enhance the
(see Chapter 13). Neurosurgical procedures, development of more typical movement pat-
including intrathecal baclofen, selective dorsal terns (Campbell, 2000; see Chapter 33). NDT
rhizotomy (SDR), and deep brain stimulation is an individualized program of positioning,
(DBS), may be of benefit in carefully selected therapeutic handling, and play. Goals include
patients (Lynn, Turner, & Chambers, 2009). the normalization of tone and improved control
of movement during functional activities.
Early Intervention and Education A promising technique known as con-
For most children with CP, the process of straint-induced therapy, or forced-use therapy,
rehabilitation begins in the home environment has been introduced to help children with
under the Infant and Toddlers program within hemiplegic CP (Taub, Ramey, DeLuca, &
IDEA (the Individuals with Disabilities Educa- Echols, 2004; Willis, Morello, Davie, Rice, &
tion Improvement Act of 2004, PL 108-446; Bennett, 2002). The technique involves con-
see Chapter 31), emphasizing involvement of straining the more functional arm or hand to
parents so that they can learn effective methods force use of the less functional upper extremity.
of working with their child (Guralnick, 1998). Randomized controlled trials suggest that this
Programs are individualized according to the technique may be of significant benefit over tra-
specific needs of the child and the family. While ditional therapy alone in the short run (Aarts,
emphasizing home-based services, they may also Jongerius, Geerdink, van Limbeek, & Geurts,
provide consultative and center-based interven- 2010), but whether benefits persist over the
tions (see Chapter 30). For many children with long term remains to be determined.
CP, entry into preschool represents the first Physical exercise is important to strengthen
major step into the wider community. Difficul- muscles and bones, enhance motor skills, and
ties in accommodating the physical, nutritional, prevent contractures. In addition, the social and
and medical needs of these children must be recreational aspects of organized physical activ-
addressed. For school-age children, concerns ities can be highly beneficial (see Chapter 34).
regarding motor function and medical needs Many popular activities, including swimming,
continue, but increased attention is focused dancing, and horseback riding, can be modified
on learning disabilities, attention and behavior so that children with CP can participate (Mere-
difficulties, intellectual disability, and sensory gillano, 2004).
impairments. For many children, these associ- The Special Olympics has enabled thou-
ated conditions, rather than the motor disabil- sands of children and young adults with intel-
ity, place them at greatest disadvantage relative lectual disabilities and CP to take part in
438 Hoon and Tolley
various sporting events. The rewards of engag- Adaptive Equipment

ing in competitive sports are invaluable for A wide variety of devices is available to aid
enhancing self-esteem and providing a sense mobility. For children who are ambulatory, the
of belonging to a peer group. Parents and use of crutches, walkers, and canes can help in
professionals should encourage all children to the attainment of walking or in improvement of
participate in whatever physical activities their the quality and range of ambulation. The fore-
interests, motivation, and capabilities allow (see arm, or Lofstrand, crutch is used in preference
Chapter 34). to the familiar under-the-arm crutch. A poste-
rior walker (i.e., the child is positioned in front
Bracing, Splinting, and Positioning of the walker, rather than behind) with wheels
Therapists make frequent use of braces and is used in preference to a standard forward-
splints (collectively referred to as orthotic position walker without wheels. Canes are used
devices) and positioning (seating) devices as less commonly.
aids in the pursuit of functional goals for chil- For children with limited walking skills,
dren with CP. These devices are employed to wheelchairs are essential for maximizing mobil-
maintain adequate range of motion, prevent ity and function. A wheelchair with a solid seat
contractures at specific joints, provide stability, and back is usually recommended. Some chil-
and control involuntary movements that inter- dren, however, have difficulty using this type
fere with function. For the legs, one of the most of chair unless modifications are made. The
commonly prescribed orthotics is a short leg addition of head and trunk supports or a tray
brace, known as an ankle-foot orthosis (AFO). may be needed for the child who lacks postural
The AFO stabilizes the position of the foot and control due to abnormalities in tone. The child
provides a consistent stretch to the Achilles ten- with limited head control, feeding difficulties,
don (see Chapter 33). A variety of splints can or low tone may benefit from a high-backed
be used to improve hand function. For exam- chair that can be tilted back 10–15 degrees (Fig-
ple, the resting hand splint is commonly used ure 24.14A). This helps to maintain the child’s
to hold the thumb in an abducted (away from body and head in proper alignment. Special
the mid-line) position and the wrist in a neu- seating cushions or custom-molded inserts that
tral or slightly extended position. This helps the conform to the contours of the body can offer
child keep his or her hand open and works to necessary support for the child with orthopedic
prevent the development of hand deformities. deformities such as scoliosis.
Trunk and body bracing, called a body splint, is Motorized (power) wheelchairs can
made of a flexible, porous material. It controls enhance the independence of children who are
abnormal tone and involuntary movements by able to use them. They may be manipulated by
stabilizing the trunk and limbs. Most pediatric hand control, head control, or mouth mecha-
braces and splints are custom-made from plas- nisms for controlling both speed and direction
tics that are molded directly on the child, so (Figure 24.14B). These wheelchairs can include
they must be monitored closely and modified as leg elevation and tilt-in-space options. They can
the child grows or changes abilities. provide increased independence for individuals
Positioning devices are used to promote otherwise dependent for pressure relief, self-
skeletal alignment, to compensate for atypical positioning, and lower extremity stretching.
postures, or to prepare the child for indepen- Special supportive strollers are an alterna-
dent mobility. Proper positioning geared to the tive to wheelchairs for mobility within the com-
age and functional status of the child is often munity, or for the young child whose potential
a key intervention in addressing the tone and for ambulation has yet to be determined. These
movement impairments associated with CP. are lightweight and collapsible, yet support the
For children who must sit for extended periods back and keep the hips properly aligned (Figure
of time or who use a wheelchair for mobility, 24.14C).
a carefully designed seating system becomes Car seats are essential to the safety of all
an all-important component of their rehabili- children who ride in automobiles. Several man-
tation. Careful attention to functional seating ufacturers offer adapted car seats that meet fed-
may also have long-term benefits in the pre- eral safety guidelines as well as provide proper
vention of contractures and joint deformities support for the child with CP. Often these mod-
resulting from spasticity (Myhr, von Wendt, els include a base that allows the seat to be used
Norrlin, & Radell, 1995). as a stroller or a positioning chair outside of the
Cerebral Palsy 439
Figure 24.14. Three types of wheelchairs. A) High-backed, tilting chair with lateral inserts and head sup-
ports. B) Motorized wheelchair with joystick control. C) Supportive collapsible stroller.
car. Car beds and special straps are also avail- Managing Spasticity and Dystonia
able for children who have more severe disabil- Spasticity and dystonia represent important tar-
ities or who require these special adaptations gets for intervention in CP. The primary goals
temporarily (e.g., following surgery). are to improve function, to prevent or postpone
the musculoskeletal complications attendant
Assistive Technology to these conditions, and to ease the care of the
Assistive technology devices are often an child with significant muscle tightness.
important part of the rehabilitation plan for Different treatment modalities work at dif-
children with CP (see Chapter 36). The tech- ferent levels of brain and spine circuitry (Figure
nology involved may be as simple as Velcro or 24.15). Interventions may be employed singly,
as complex as a computer chip. Although it is sequentially, or simultaneously depending on
often true that the simplest intervention is the the specific clinical circumstance. As dystonia
best, the computer is seen as the future of assis- is caused by disturbances in the extrapyramidal
tive technology. Computers can be used to con- motor control system, pharmacological inter-
trol the environment, provide a lifeline with the ventions primarily target the brain and spinal
outside world, enable a person to work at home, cord. By contrast, the mechanisms that gener-
facilitate artificial speech and sight, and provide ate spasticity may be affected from the brain to
entertainment. The real potential of these new the muscle itself. Therefore, a wider variety of
technologies to improve the quality of life for therapeutic modalities are available to modu-
children with disabilities is just beginning to late the effects of spasticity. A potential pitfall
be appreciated. Recently, there has been a lot in treatment revolves around the relationship
of enthusiasm for devices such as the iPad and between impairment (spasticity or dystonia)
the Wii for individuals with disabilities, chronic and disability. For some children, it is possible
illness, and other impairments, due to the rela- to significantly reduce spasticity or dystonia
tively low cost, the ease of the interface, graph- without improving (and in some cases even
ics, and applications. worsening) functional outcome. Therefore,
consultation with experienced professionals
Neurocognitive Prosthetics who are intimately familiar with a child’s partic-
There is an evolving interest in neurocognitive ular pattern of skills and impairments is critical
prostheses, which can modulate neural function to the proper selection of specific interventions.
using implanted electrodes (Serruya & Kahana,
2008). Two currently utilized applications are Casting
cochlear implants (see Chapter 10) and DBS. Tone-reducing, or inhibitive, casts are used in
Other noninvasive techniques under develop- some centers as an adjunct to more traditional
ment include transcranial magnetic stimulation methods of managing spasticity (Law et al.,
(TMS) and transcranial direct current stimula- 1991). The casts are made for arms or legs and
tion (tDCS). It is hoped that further advances can be either designed for use in immobiliza-
in neurocognitive prosthetics will improve both tion or during weight-bearing activities. Ben-
communication and mobility for individuals efits of inhibitive casting include improved gait
with a wide range of disorders, including CP. and weight bearing, increased range of motion,
440 Hoon and Tolley
B D
C
Figure 24.15. Levels of intervention for spasticity and dystonia. A) Inhibitive casting, physical ther-
apy, exercise, and medications such as dantrolene directly affect tone at the muscle level. B) Nerve
blocks, motor point blocks, and botulinum toxin work at the level of muscle and nerve entry into muscle.
C) Selective dorsal rhizotomy reduces spasticity by interrupting the sensory component of the stretch
reflex arc. D) Medications such as baclofen reduce spasticity at the level of the spinal cord. E) Medica-
tions for spasticity, such as diazepam, and medications for dystonia work at the level of the brain. (From
Pellegrino, L., & Dormans, J.P. [1998]. Definitions, etiology, and epidemiology of cerebral palsy. In J.P.
Dormans & L. Pellegrino [Eds.], Caring for children with cerebral palsy: A team approach [p. 46]. Balti-
more, MD: Paul H. Brookes Publishing Co., Inc.; adapted by permission.)
and improved functional hand use. Casts posi- Nerve Blocks, Motor Point
tion the limbs so that spastic muscles are in Blocks, and Botulinum Toxin
lengthened positions, being gently stretched.
Serial application of casts (serial casting) can Several injectable agents are available that can
allow the therapist to increase range of motion be used to target spasticity in particular muscle
gradually in the presence of contractures. After groups. Certain chemical agents such as diluted
maximal range and position have been achieved, alcohol or phenol, which denature muscle and
a cast is worn intermittently to maintain the nerve protein at the point of injection, can pro-
improvement. Casting is now most often used duce a decrease in muscle tone for months. A
in conjunction with other therapeutic modali- motor point block with these agents effec-
ties, especially following injection of botuli- tively interrupts the nerve supply at the entry
num toxin, sold under the brand name Botox site to a spastic muscle without compromising
(Glanzman, Kim, Swaminathan, & Beck, 2004; sensation. The main side effect of the proce-
Kay, Rethlefsen, Fern-Buneo, Wren, & Skaggs, dure is localized pain that may persist for a few
2004; Wasiak, Hoare, & Wallen, 2004). days after the injection. Inhibition of spasticity
Cerebral Palsy 441
lasts for 4–6 months, and the procedure can be lorazepam (Ativan) and clonazepam (Klonopin),
repeated after the initial effect has worn off. affect brain control of muscle tone, beginning
This temporary reduction of spasticity allows within half an hour after ingestion and last-
for more effective application of physical ther- ing about 4 hours. Withdrawal of these drugs
apy to improve range of motion and function, should be gradual, as physical dependency can
and to potentially postpone orthopedic surgery. develop. Side effects include drowsiness and
Injectable botulinum toxin was introduced excessive drooling, which may interfere with
as an alternative to motor point blocks in the feeding and speech. As a result of these side
past decade and has largely supplanted alcohol effects, they are less commonly used than oral
and phenol (Jefferson, 2004; Mooney, Koman, baclofen.
& Smith, 2003; Morton, Hankinson, & Nich- Baclofen, a GABA B receptor agonist, was
olson, 2004; Pidcock, 2004). Botulinum toxin initially used to treat adults with multiple scle-
is produced by the bacterium that causes botu- rosis and traumatic damage to the spinal cord.
lism and is among the most potent neurotoxins It is now commonly used in CP clinics around
known. It works by blocking the nerve-muscle the world. In children with CP, the most com-
junction. Small quantities can be safely injected mon side effects of the oral form of the medica-
directly into spastic muscles without significant tion are drowsiness, nausea, headache, and low
spread of the toxin into the bloodstream. The blood pressure. About 10% of children treated
injection results in weakening of the muscle and with baclofen experience side effects that are
reduction of spasticity for 3–6 months (the anti- unpleasant enough to necessitate discontinu-
spasticity effects of the injections dissipate over ation of the medication. Care must be taken
time). Although botulinum toxin is used mainly when stopping the medication to gradually
to treat spasticity in muscles of the limbs and taper it, as rapid withdrawal can lead to severe
trunk, novel uses have been developed, such as side effects, including hallucinations.
injection of the salivary glands to reduce drool- Dantrolene works on muscle cells directly,
ing (Jongerius et al., 2004). Although clarifica- as a calcium channel blocker, to inhibit their
tion is still needed regarding the definition of contraction. Side effects include drowsiness,
clinical indications and outcomes (Hoare et al., muscle weakness, and increased drooling. A
2010), the use of injectable botulinum toxin has rare adverse effect of this drug is severe liver
become a mainstay in the management of spas- damage, so liver function tests should be per-
ticity in CP and has also found applications for formed periodically.
specific types of dystonia (Gordon, 1999; Jef- Although a discussion of the range of
ferson, 2004; Mooney et al., 2003). Side effects, side effects associated with oral medications is
including weakness and mild flu-like symptoms, beyond the scope of this chapter, several gener-
are usually mild and transient. It should be alizations can be made. Some medications have
noted, however, that there are very rare reports easily recognizable side effects, such as sedation
in which botulism-like clinical pictures, includ- from diazepam and seizures from acute baclofen
ing death, have been reported. withdrawal. Others may be more subtle, such as
cognitive or personality changes with trihexy-
Oral Medication phenidyl (Carranza-del Rio, Clegg, Moore, &
A variety of orally administered medications Delgado, 2011).
have been used to improve muscle tone in chil- Periodic drug “holidays” should be consid-
dren with spasticity and rigidity (Krach, 2001; ered to determine whether benefits are persistent.
Tilton, 2006; see Appendix C). As always, clinicians should listen carefully to
Several medications used in Parkinson’s parental or caregiver concerns about any changes
disease in adults, including carbidopa-levodopa in their children after medication initiation.
(Sinemet) and trihexyphenidyl (Artane), have
been found to be beneficial for some children Neurosurgical Procedures
with dyskinetic forms of CP (Mink & Zinner, Intrathecal baclofen is a therapeutic modality
2009). that allows for the direct delivery of baclofen
Although some specialists prefer trihexy- into the spinal fluid (i.e., intrathecal) space,
phenidyl, others have reported benefits with where it can inhibit motor nerve conduction at
levodopa. The medications most commonly the level of the spinal cord (Disabato & Ritchie,
used to control spasticity and rigidity are diaze- 2003; Fitzgerald, Tsegaye, & Vloeberghs, 2004;
pam (Valium), baclofen, and dantrolene (Dant- Tilton, 2004). A disk-shaped pump is placed
rium). Diazepam and its derivative compounds, under the skin of the abdomen, and a catheter
442 Hoon and Tolley
is tunneled below the skin around to the back, encouraging in this regard (Engsberg, Ross,
where it is inserted through the lumbar spine Collins, & Park, 2006; Langerak et al., 2009).
into the intrathecal space. Baclofen is stored Another neurosurgical procedure currently
in a reservoir in the disk that can be refilled, under investigation, DBS, has been proposed as
and the medication is delivered at a continuous a method to reduce choreoathetosis and dysto-
rate that is computer controlled and adjustable. nia associated with some forms of extrapyrami-
Because the drug is delivered directly to its site dal CP. Recent results are promising, but this
of action (the cerebrospinal fluid), a much lower procedure is still in its infancy (Vidailhet et al.,
dosage can be used, with a resultant reduced 2009).
risk of side effects. Improvements in ease of
care and comfort are commonly reported. Orthopedic Procedures
Although functional gains in lower extremity, Because of the abnormal or asymmetrical dis-
upper extremity, and even oral/motor function tribution of muscle tone, children with CP
have been observed (Fitzgerald et al., 2004), are susceptible to the development of joint
clear improvements in ambulant individuals deformities. The most common of these result
has not been demonstrated (Pin, McCartney, from permanent shortening or contracture of
Lewis, & Waugh, 2011). The main disadvan- one or more groups of muscles around a joint,
tages of intrathecal baclofen are hypotonia (low which limits joint mobility. Orthopedic sur-
muscle tone), increased seizures in individuals gery is done to increase the range of motion by
with known epilepsy, sleepiness, and nausea/ lengthening a tendon, cutting through muscle
vomiting (Gilmartin et al., 2000). Complica- or tendon (release), or moving the point of
tions related to mechanical failures and infec- attachment of a tendon on bone. For example,
tion, and the need for intensive and reliable a partial release or transfer of hyperactive hip
medical follow-up, are also significant consid- adductor muscles (which cause scissoring of the
erations (Murphy, Irwin, & Hoff, 2002). legs) may improve the child’s ability to sit and
walk, and may lessen the chances of a hip dis-
Selective Dorsal Rhizotomy location (Hägglund et al., 2005; Stott, Piedra-
This procedure reduces spasticity by interrupt- hita, & American Academy for Cerebral Palsy
ing the sensory component of the deep tendon and Developmental Medicine, 2004). A partial
reflex, which is exaggerated in children with hamstring release, involving the lengthening or
spastic forms of CP. The surgery reduces spas- transfer of muscles around the knee, also may
ticity permanently in the legs but not in the facilitate sitting and walking. A lengthening of
arms, so its use is confined mainly to children the Achilles tendon at the ankle improves toe
with spastic diplegia who have good antigravity walking (Figure 24.16).
strength. Although uncertainty exists in regard More complicated orthopedic procedures
to long-term functional outcomes in children may be required for correction of a dislocated
who undergo this procedure (Koman et al., hip. If this is diagnosed when there is a partial
2004; Tedroff, Löwing, Jacobson, & Åströmn, dislocation (called subluxation), release of the
2011), other recent reports have been more hip adductor muscles alone can be effective
Figure 24.16. Achilles tendon lengthening operation. When the heel cord is tight, the child
walks on his or her toes. Surgery lengthens the heel cord and permits a more flat-footed gait.
Cerebral Palsy 443
(Figure 24.17). If the head of the femur (the Sometimes muscle releases or lengthening are
thigh bone) is dislocated more than one third performed at the same time as these procedures.
to one half of the way out of a hip joint socket, For ambulatory children with CP, decid-
a more complex procedure called a varus dero- ing which type of surgery is most likely to
tational osteotomy may be necessary. In this improve function is a complex issue. Comput-
operation, the angle of the femur is changed erized gait analysis conducted prior to surgical
surgically to place the head of the femur back intervention has become increasingly common
into the hip socket (Figure 24.18). In some as an aid in the decision-making process. Pre-
cases, the hip socket also must be reshaped to cise measurements obtained through motion
ensure that the hip joint remains functional. analysis, force plates, and electromyography
Figure 24.17. Adductor tenotomy. This operation is done to improve scissoring (Figure 24.11) and to prevent hip dislocation
caused by contractures of the adductor muscles in the thigh. A) In this procedure, the iliopsoas, adductor brevis, and adductor
longus muscles are cut, leaving the adductor magnus intact. B) The child is then placed in a cast for 6–8 weeks to maintain a
more open (abducted) position. C) The muscles eventually grow together in a lengthened position, allowing improved sitting
and/or walking.
444 Hoon and Tolley
Figure 24.18. Dislocation of the hip. The upper x rays (frontal view) show a normal hip (left x ray) and a hip dislocated
on both sides (right x ray). The arrows indicate the points of dislocation. The lower pictures show the results of a varus
derotational osteotomy to correct the left-hip dislocation. The femur has been cut and realigned so that it now fits into
the hip socket. Pins, which are later removed, hold the bone in place until it heals.
offer detailed information relating to specific bone graft material fuses the spine in position
abnormalities at each lower extremity joint as (Figure 24.19).
well as the muscle activity that controls motion
through all phases of the gait (Cook, Schnei- Complementary and
der, Hazlewood, Hillman, & Robb, 2003).
Preoperative gait analysis helps to determine
exactly which procedures are likely to be suc- When conventional approaches do not lead
cessful. Postoperative analysis can provide an to the anticipated improvements, families
objective measure of outcome. may explore other treatment options, includ-
In addition to treating contractures and ing complementary and alternative medicine
dislocations, orthopedic surgeons are involved (CAM; Oppenheim, 2009; see Chapter 38).
in the treatment of scoliosis. If untreated, a spi- CAM includes acupuncture, craniosacral
nal curvature can interfere with sitting, walk- therapy, myofascial release, therapeutic taping,
ing, and self-care skills. If severe enough, it also diet and herbal remedies, electrical stimulation,
can affect lung capacity and respiratory efforts. chiropractic treatments, massage, and hyper-
Treatment of significant scoliosis ranges from a baric oxygen therapy (HBOT). Although there
molded plastic jacket or a chair insert to surgery are individual reports and testimonials of dra-
that straightens the spine as much as possible. matic improvements with various alternative
This surgery involves using rods and wires to therapies, some carry significant risks. Further-
hold the spine in an improved alignment while more, rigorous studies have not been conducted
Cerebral Palsy 445
of chronic disorders and who can provide the

additional time that may be required for evalu-
ation. They also need to recognize the impor-
tance of preventive care and report any changes
in neurological function, as this may represent
new impairments secondary to the underlying
motor disorder. Adults with CP identify pain
as a significant problem and should be encour-
aged to seek medical care in this circumstance
(Vogtle, 2009).
Mobility and the ability to perform activi-
ties of daily living should be carefully moni-
tored because some adults experience slow
declines over time. Individuals should be pro-
vided with instruction in practical matters, such
as hiring quality personal aides and caregivers,
as well as in self-advocacy and seeking employ-
ment opportunities when able.
Although most children with CP will live
to adulthood, their projected life expectancy
may be less than that of the general popula-
tion (Hemming, Hutton, Colver, & Platt, 2005;
Katz, 2003). For example, an individual with
Figure 24.19. Treatment of scoliosis may require spinal hemiplegic CP probably will have a typical life
fusion. This x ray shows improved scoliosis following a Luque
procedure. During this surgery, the position of the spine is
span, whereas a person with spastic quadriplegia
improved using metal hooks, rods, and wires while bone graft may not live beyond age 40 because of respira-
material fuses the spine in position. tory and nutritional issues (Strauss & Shavelle,
2001). Children with very severe impairments,
to assess efficacy. As with any treatment, fami- measured in terms of functional characteristics,
lies and clinicians should consider cost, efficacy, have the poorest outcome. Children who can-
and potential side effects before embarking on not lift their heads and are fed via gastrostomy
one of these approaches. tube may not survive to adulthood (Strauss,
Shavelle, & Anderson, 1998).
Transition into Adulthood Excess mortality for people with CP may
also be related to comorbid risks such as seizures
Adolescence is a critical time in life for all indi- and aspiration, as well as an increased risk for
viduals, but for teenagers with CP there are breast cancer, brain tumors, and circulatory and
additional challenges (Wood, Kantor, Edwards, digestive diseases, most likely related to inade-
& James, 2008). There is the need to transition quate medical screening (Murphy, 2010). Unin-
from pediatric health care providers to those tentional injury rates (e.g., falls) for people with
who manage CP in adults, and there are job CP are also higher than in the general popula-
training, employment, social, recreation, hous- tion (Cooley & American Academy of Pediatrics,
ing, and insurance considerations that require 2004; Strauss, Cable, & Shavelle, 1999).
careful planning. Motor skills and mobility may not be the
primary determinant of societal independence;
Adult Outcome personal characteristics, health status, and envi-
Adults with CP are living longer and more ronmental factors will also factor into outcome
independent lives than in the past as a result (Liptak & Accardo, 2004). In fact, the ability to
of new treatment options. However, they face successfully participate in society may be more
challenges, including medical care, accessibil- strongly related to intellectual and interpersonal
ity, and vocational opportunities (Tosi, Maher, strengths than to physical abilities. Although
Moore, Goldstein, & Aisen, 2009; Watson, approximately one half of individuals with CP
Parr, Joyce, May, & Le Couteur, 2011). have normal intelligence, most still have diffi-
Although medical care is well established culty leading completely typical lives. This may
for children with CP, it is more fragmented for result from factors ranging from family support
adults (Turk, 2009). Adults with CP should look and quality of educational programs to availabil-
for practitioners who are experienced in the care ity of community-based training and technical
446 Hoon and Tolley
support (Murphy, Molnar, & Lankasky, 1995; Accardo, J., Kammann, H., & Hoon, A.H., Jr. (2004).
Russman & Gage, 1989). In one study of young Neuroimaging in cerebral palsy. The Journal of Pedi-
atrics, 145(2, Suppl.), S19–S27.
adults with CP (van der Dussen, Nieuwstraten, Accardo, P.J. (2008). Capute & Accardo’s neurodevelop-
Roebroeck, & Stam, 2001), 53% of individu- mental disabilities in infancy and childhood (3rd ed.). Bal-
als had some form of secondary education, timore, MD: Paul H. Brookes Publishing Co.
but only 36% subsequently engaged in paid Americans with Disabilities Act (ADA) of 1990, 42
U.S.C. §§ 12101 et seq.
employment. It is hoped that these figures will
Ancel, P.Y., Livinec, F., Larroque, B., Marret, S., Arn-
improve as a result of federal mandates (e.g., the aud, C., Pierrat, V., … the EPIPAGE Study Group.
Americans with Disabilities Act [ADA] of 1990, (2006). Cerebral palsy among very preterm children
PL 101–336), which define the rights of peo- in relation to gestational age and neonatal ultrasound
ple with disabilities and are gradually making abnormalities: The EPIPAGE cohort study. Pediat-
rics, 117(3), 828–835.
inroads into societal perceptions of disability. Aneja, S. (2004). Evaluation of a child with cerebral
Ultimately, strengthening support to families palsy. Indian Journal of Pediatrics, 71(7), 627–634.
(Raina et al., 2005), providing ready access to Ashwal, S., Russman, B.S., Blasco, P.A., Miller, G.,
quality medical care, improving special edu- Sandler, A., Shevell, M., & Stevenson, R. (2004).
Practice parameter: Diagnostic assessment of the
cation services, increasing opportunities for
child with cerebral palsy: Report of the Quality Stan-
employment, and changing attitudes about dis- dards Subcommittee of the American Academy of
abilities in society at large may do as much for Neurology and the Practice Committee of the Child
children with CP as traditional therapeutic and Neurology Society. Neurology, 62(6), 851–863.
medical interventions. Bale, J.F. (2009). Fetal infections and brain develop-
ment. Clinical Perinatology, 36(3), 639–653.
Barkovich, J.A. (2005). Pediatric neuroimaging (4th ed.).
Philadelphia, PA: Lippincott Williams &Wilkins.
SUMMARY Barks, J.D. (2008). Current controversies in hypother-
mic protection. Seminars in Fetal and Neonatal Medi-
Cerebral palsy represents a group of chronic cine, 13(1), 30–34.
motor disorders that result from malformation Barnes, M.P., & Johnson, G.R. (2008). Upper motor
or injury of the developing brain. The impair- neurone syndrome and spasticity. Cambridge, England:
ments associated with CP are variable and non- Cambridge University Press.
progressive but permanent. Varying degrees of Bax, M., Goldstein, M., Rosenbaum, P., Leviton, A.,
Paneth, N., Dan, B., … Executive Committee for the
disability related to functional mobility, daily liv- Definition of Cerebral Palsy. (2005). Proposed defi-
ing skills, and communication-socialization skills nition and classification of cerebral palsy, April 2005.
result from these impairments. Effective man- Developmental Medicine and Child Neurology, 47(8),
agement requires an interdisciplinary strategy 571–576.
Campbell, S. (Ed.). (2000). Physical therapy for children
that seeks to maximize function and opportunity. (2nd ed.). Philadelphia, PA: W.B. Saunders.
Efforts founded on the principles articulated in Carlsson, M., Hagberg, G., & Olsson, I. (2003). Clinical
federal legislation will create new opportunities and aetiological aspects of epilepsy in children with
for greater participation and enhanced quality of cerebral palsy. Developmental Medicine and Child Neu-
life for people with CP. New treatment modali- rology, 45(6), 371–376.
Carranza-del Rio, J., Clegg, N.J., Moore, A., & Del-
ties offer improved quality of life and educational gado, M.R. (2011). Use of trihexyphenidyl in chil-
opportunities. The challenge is to provide these dren with cerebral palsy. Pediatric Neurology, 44(3),
opportunities in a changing medical environ- 202–206.
ment, where a premium is not always placed on Cook, R.E., Schneider, I., Hazlewood, M.E., Hill-
man, S.J., & Robb, J.E. (2003). Gait analysis alters
coordination of care. decision-making in cerebral palsy. Journal of Pediatric
Orthopedics, 23(3), 292–295.
Cooley, W.C., & American Academy of Pediatrics
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25 Neural Tube Defects
Gregory S. Liptak

■ Be able to define the term neural tube defects and its various subtypes
■ Know the occurrence and factors associated with the development of neural
tube defects
■ Understand the impact of meningomyelocele on body structures, on functions,
and on the child’s activities and participation
■ Understand strategies for intervention, the need for multidisciplinary care, and
goals for independence
Neural tube defects (NTDs) are a group of mal- and 5) less brain tissue in the sac. Anencephaly is
formations of the spinal cord, brain, and verte- an even more severe congenital malformation of
brae. The three major NTDs are encephalocele, the skull and brain in which no neural develop-
anencephaly, and spina bifida. Encephalocele ment occurs above the brainstem (the most prim-
is a malformation of the skull that allows a por- itive part of the brain). About half of fetuses with
tion of the brain, which is usually malformed, to anencephaly are spontaneously aborted; those
protrude in a sac. The vast majority of encepha- who are live born rarely survive infancy.
loceles occur in the occipital, or back, region of The most common NTD is spina bifida,
the brain. Affected children often have intel- which is a split of the vertebral arches. This
lectual disability, hydrocephalus (excess fluid split may be isolated to the bone or occur with
in the cavities of the brain), spastic legs, and/or a protruding meningeal sac that may contain a
seizures. Encephaloceles also occur in the fron- portion of the spinal cord. The most common
tal area, usually as a mass in the forehead, but form of spina bifida, spina bifida occulta, is also
in some cases in the nose or orbit (eye socket). the most benign. Approximately 10% of the gen-
The following factors are associated with better eral population has this hidden separation of the
outcomes in children with encephaloceles: 1) no vertebral arches. Individuals with spina bifida
associated abnormalities of the brain (e.g., hydro- occulta do not have 1) abnormalities visible on
cephalus, abnormal cell migration), 2) no other their back, 2) a sac or protruding spinal cord, or
physical abnormalities, 3) frontal rather than 3) any symptoms.
occipital location, 4) head circumference in the A form of spina bifida not to be con-
typical range (rather than too small or too large), fused with spina bifida occulta is occult spinal
451
452 Liptak
dysraphism (OSD). In this condition, the infant of the spinal abnormality, Chiari type II mal-
is born with a visible abnormality on the lower formation (see Origin of Neural Tube Defects
back (Figure 25.1). This may be a birthmark section) with hydrocephalus, and neurogenic
(especially a reddish area called a hemangioma (absence of innervation to) bowel and blad-
or a flame nevus; Drolet et al., 2010), tufts of der. Most meningomyeloceles are open, and a
hair, a dermal sinus (opening in the skin), or portion of the spinal cord is visible at birth as
a small lump containing a fatty benign tumor, an open sac overlying part of the vertebral col-
called a lipoma (Guggisberg et al., 2004; umn. Children with meningomyelocele typi-
Muthukumar, 2009). A dimple that is not in the cally have associated abnormalities of the brain,
middle, is above the sacral region, is large, or including abnormal migration of neurons dur-
does not have a visible bottom, may be associ- ing the development of the brain (Bartonek &
ated with OSD. In OSD, the underlying spinal Saraste, 2001). These abnormalities may mani-
cord may be connected to the surface through fest clinically as learning disabilities. Because of
a sinus that exposes it to bacteria, thereby its profound effects on multiple body systems,
increasing the risk of infection, especially men- meningomyelocele has been called the most
ingitis (infection of the brain lining). The spi- complex congenital malformation compatible
nal cord itself may be tethered (tied down) to with life.
surrounding tissue, or it may be split, called dia- This chapter focuses on meningomyelo-
stematomyelia or diplomyelia (Kumar, Bansal, cele. It discusses 1) the effects of the condition
& Chhabra, 2002). These defects can lead to on medical, physical, psychosocial, and cogni-
subsequent neurological damage as the child tive development; 2) approaches to treatment;
grows. Therefore, infants who have these signs and 3) the psychological and economic impacts
(i.e., hemangioma, hair tufts, or lipoma) should that can affect families of children with this
have an evaluation of the underlying soft tis- disorder.
sue and spinal cord. This can be accomplished
by ultrasound or magnetic resonance imaging ■ ■ ■ LUCITA
(MRI) scan. Most clinicians believe that sur-
Lucita is a 7-year-old girl who illustrates the
gical treatment to correct the OSD should be
performed early, even in asymptomatic infants, complexity involved in caring for a child with
to prevent progressive neurological damage meningomylocele. She has a low lumbar level
(Drolet et al., 2010; Oi et al., 2009). meningomyelocele, which was diagnosed prena-
Some individuals are born with an exposed tally. She was delivered by cesarean section at an
membranous sac covering the spinal cord, academic medical center and started on antibi-
called a meningocele. In this form of spina otics. Her back lesion was repaired 20 hours after
bifida, the spinal cord itself is not entrapped, her birth. A cranial MRI scan showed a Chiari
and these children usually have no symptoms. type II malformation. Serial cranial ultrasounds
When the sac is associated with the presence showed increasing ventricular size, so on Day 7
of a malformed spinal cord, the condition is
she had surgical placement of a ventriculoperi-
called meningomyelocele (or myelomenin-
toneal (VP) shunt that drained the excess ven-
gocele). This disorder, often simply referred
to as spina bifida, is associated with a complex tricular fluid into her abdominal cavity. Renal and
array of symptoms that can include complete or bladder ultrasound were unremarkable. At birth
partial paralysis, sensory loss below the lesion she had mild clubbed feet which were treated
with a cast placed when she was 10 days old. 
At 6 months of age, urodynamics (a test
that assesses how the bladder and urethra are
performing their job of storing and releasing
urine) revealed elevated pressure in her blad-
der, so clean intermittent catheterization (CIC)
was started. She was also referred to an early
intervention program and received physical
therapy (PT), occupational therapy (OT), and
early childhood education services until entry
into kindergarten, when she began receiving
Figure 25.1. Occult spina dysraphism showing hairy patch
and hyperpigmentation (gray area at right) associated with special education services through an individu-
underlying abnormalities of the spine and spinal cord. alized education program (IEP).  
Neural Tube Defects 453
She was started on a timed toileting pro- prenatally for NTDs. More than 50% of cou-
gram and a high-fiber diet when she was 3 years ples, upon learning that they are carrying an
of age. At 4 years of age, she developed head- affected fetus, choose to terminate the preg-
aches, vomiting, and lethargy. A cranial com- nancy (Aguilera, Soothill, Denbow, & Pople,
puted tomography (CT) scan showed increased 2009), although this varies according to reli-
ventricular size indicating malfunction of her VP gion and ethnic background (Forrester & Merz,
2000). A number of countries, including the
shunt, so it was revised surgically.
United States, now enrich flour with folic acid,
  She now attends a general education sec-
and obstetricians generally recommend folic acid
ond grade class and has mild learning disabili- supplementation during pregnancy because of its
ties but is generally doing well academically. association with a decreased risk of NTDs. At the
She continues to receive PT and OT at school, same time that prevalence at birth has decreased,
as well as adapted physical education; she is survival has increased as a result of improved
pulled out for special education reading ser- medical care. This has led to an increased popu-
vices 3 times a week. She has friends and gener- lation of adolescents and adults with meningo-
ally is cheerful.   myelocele (Davis et al., 2005). Thus, improving
She uses knee-ankle-foot orthoses (KAFOs) the transition of these individuals from adoles-
and Lofstrand crutches for mobility. She has a cence to adulthood and ensuring the availability
of adult services has become more important.
20-degree thoracolumbar scoliosis, which is
being monitored by her orthopedic surgeon.
She has not developed skin sores. Despite her THE ORIGIN OF
family’s best efforts, however, Lucita continues NEURAL TUBE DEFECTS
to have fecal accidents. As a result, her family
would like more information about the ante- The malformation causing NTDs occurs by
26 days after fertilization of the egg during
grade (forward-flowing) colonic enema (ACE)
the period of neurulation (Figure 25.2; Copp,
procedure to improve her encopresis. She has
Fleming, & Greene, 1998), which is the first
had occasional urinary tract infections that step in the formation of the central nervous sys-
were easily treated. Repeated evaluations have tem (CNS; see Chapter 2). During this period,
shown that her kidneys are growing and func- the neural groove folds over to become the neu-
tioning normally. ral tube, which develops into the spinal cord
and vertebral arches. If a portion of the neural
PREVALENCE OF groove does not close completely during this
process, an NTD results, and the spinal cord is
NEURAL TUBE DEFECTS
malformed. Although the mechanism of neural
The prevalence of NTDs varies among coun- tube closure is not fully understood, it does not
tries. In the United States, the birth preva- simply work like a zipper, but has multiple sites
lence of all forms of spina bifida in the years of closure. Each of these sites may be under
2003–2004 was approximately 3 per 10,000; separate genetic control, and there may be dif-
for anencephaly it was 2 per 10,000, giving a ferential sensitivity to genetic and environmen-
total of 5 per 10,000 (Boulet et al., 2008). These tal factors (Copp & Greene, 2010).
numbers do not include terminated pregnan- The causes of NTDs remain uncer-
cies. In Wales and Ireland, the prevalence is tain. Both environmental and genetic factors
3–4 times higher; in Africa it is much lower play a role, and they interact with each other
(Rankin, Glinianaia, Brown, & Renwick, 2000). in complex ways (Hall & Solehdin, 1998). A
This variability is likely a reflection of genetic few candidate genes that increase the risk of
influences in certain ethnic groups, as well as NTDs have been identified in human studies
environmental factors. (Copp & Greene, 2010). As one example, a
Females are affected 3–7 times as frequently deficiency of 5,10-methylene tetrahydrofolate
as males, except for sacral-level NTDs, in which reductase (MTHFR) resulting from a muta-
the occurrence is equal (Hall et al., 1988). The tion in the gene for this enzyme involved in the
birth prevalence also increases with maternal age metabolism of folic acid, predisposes humans
and with lower socioeconomic status. to NTDs. Supplementation with its cofactor,
The prevalence of NTDs is falling world- folic acid (also called folate), reduces the risk of
wide as a result of a number of factors. Many NTDs in affected families (Charles et al., 2005;
countries use maternal serum testing to screen Shurtleff, 2004). Apart from MTHFR, very few
454 Liptak
Figure 25.2. Normal neural tube development compared to spina bifida with menin-
gomyelocele. A) The typical formation of the neural tube (i.e., the precursor of the spinal
column) during the first month of gestation. B) Complete closure of the neural groove
has occurred; the vertebral column and spinal cord appear normal in the cross-section
on the left and in the longitudinal section on the right. C) Incomplete closure of an area
of the spine is called spina bifida and may be accompanied by a meningomyelocele, a
sac-like abnormality of the spinal cord. Because nerves do not normally form below this
malformation, the child is paralyzed below (or caudal to) that point.
other candidate genes for causing NTDs have Chapter 8) is greater than 29 kg/m2 (kilograms
been identified. Also, abnormalities in all the per meters squared; normal is less than 25).
candidate genes identified account for only a Risks have also been found to vary by ethnic-
small percentage of NTDs in humans (Copp ity and gender of the child. For example, obese
& Greene, 2010). Other conditions that have Latina women who have daughters are 8 times
been associated with the development of NTDs more likely to have a child with meningomyelo-
include 1) chromosomal disorders (especially cele than nonobese Caucasian women who have
trisomy 13 and 18 and certain deletions and sons (Shaw et al., 2003).
duplications; Lynch, 2005; see Appendix B), It is controversial as to whether the neu-
2) maternal exposure to the antiepileptic drugs ral damage in NTDs results simply from the
valproic acid (Depakene, Depakote) and car- malformed spinal cord or from a combination
bamazepine (Tegretol) and to the acne medi- of malformation and the inflammatory effects
cation isotretinoin (Accutane; Ornoy, 2006), of chronic exposure of the open cord to amni-
3) maternal alcohol abuse, 4) maternal exposure otic fluid. Studies in sheep (Meuli et al., 1995)
to hyperthermia (e.g., the use of saunas, high suggest that closing an open lesion in the back
fever; Suarez, Felkner, & Hendricks, 2004), results in less neural damage. Experimental tri-
and 5) maternal diabetes (Chen, 2005). Mater- als of prenatal surgery have been performed in
nal obesity has also been associated with the human fetuses that were diagnosed prenatally
development of NTDs in offspring. For exam- with meningomyelocele (National Institute of
ple, the risk of having a child with spina bifida Child Health and Human Development, 2004).
is doubled if the body mass index (BMI; see Infants born after prenatal surgery had less
severe Chiari type II malformations (hindbrain Academy of Pediatrics, Committee on Genet-

herniation, i.e., the downward displacement of ics, 1999; Manning, Jennings, & Madsen,
the back of the brain) and resultant hydroceph- 2000). Supplementation with folate can also
alus. As a result, they had less need for ventricu- decrease the occurrence of cleft lip and palate
lar shunting (Bruner & Tulipan, 2005; Sutton & (van Rooij et al., 2004). Yet, only about one
Adzick, 2004). They also were more likely to be third of women who are planning a pregnancy
walking independently than those who had sur- were found to take folic acid around the time of
gery after birth. Overall, they had better motor conception (Schader & Corwin, 1999); in addi-
function than what would be expected based on tion, half of all pregnancies in the United States
the level of the NTD. No difference was found are unplanned (Centers for Disease Control
in intelligence between the two groups. Results and Prevention, 2000). To address this problem,
on urological function were not reported. In since 1998 certain food staples in the United
the prenatally treated group, however, moth- States (e.g., bread, flour) have been made with
ers and children were more likely to have grain fortified with folic acid (Honein, Pau-
adverse events related to the surgery, including lozzi, Mathews, Erickson, & Wong, 2001).
premature delivery, pregnancy complications, The birth incidence of NTDs in the
and tethered spinal cord (Adzick et al., 2011). United States in 1995–1996 (including prenatal
The risks and benefits of prenatal surgery occurrences), prior to supplementation, was 6.4
have not been sufficiently evaluated to consider per 100,000; in 1999–2000, after supplementa-
it to be standard medical practice at the writ- tion, it was 4.1 per 100,000 (Centers for Dis-
ing of this chapter (Adzick, Thom, Spong, & ease Control and Prevention, 2004). However,
Brock, 2011). the amount of folic acid in a typical diet, even
with this fortification, is not optimal to prevent
NTDs; therefore, individual supplements are
PREVENTION OF important in women of childbearing age. From
NEURAL TUBE DEFECTS USING 1999–2005, the prevalence of spina bifida in the
FOLIC ACID SUPPLEMENTATION United States declined from 2.04 to 1.90 per
10,000 live births (Centers for Disease Control
Although this chapter focuses on the treat-
and Prevention, 2009), with greater reductions
ment of children with meningomyelocele, it is
observed among Hispanic and non-Hispanic
important to recognize that prevention is pos-
white women than among non-Hispanic black
sible based on the strong link between NTDs
women (Williams, Rasmussen, Flores, Kirby,
and folic acid deficiency. Couples who have
& Edmonds, 2005). Folic acid supplementa-
had one child with an NTD have a recurrence
tion has little effect on certain types of NTDs,
risk that is about 30 times higher (i.e., 3 in 100)
however, including lipomyelomeningocele
than that of the general population. If these
(McNeely & Howes, 2004). In some animals,
women take 4 mg (milligrams) of folic acid per
inositol (a type of sugar) can prevent NTDs in
day at or before conception and continue this
those resistant to folic acid. Whether or not this
supplementation during the first trimester (12
treatment will be effective in humans remains
weeks) of the pregnancy, their recurrence risk
to be investigated (Shaw, 2008).
is reduced by 70% (Medical Research Council
Vitamin Study Research Group, 1991). Women
who have an NTD or have a first-degree rela- PRENATAL DIAGNOSIS
tive with an NTD also should take 4 mg per day
of folic acid from the time they are considering NTDs can be diagnosed prenatally by several
becoming pregnant. methods (see Chapter 4; Main & Mennuti,
Studies also have shown that daily supple- 1986). Most obstetricians first measure levels
mental doses of folic acid can reduce the occur- of alpha-fetoprotein (AFP) in the mother’s
rence of new cases of NTDs in the general serum during the 16th–18th week of preg-
population by 50% or more (Gucciardi et al., nancy (Bahado-Singh & Sutton-Riley, 2004).
2002; Martinez et al., 2002; Persad, Van den AFP is a chemical typically found in the fetal
Hof, Dubé, & Zimmer, 2002). As a result, it spinal fluid, brain, and spinal cord. In the pres-
is now recommended that all women who are ence of an open meningomyelocele, encephalo-
contemplating a pregnancy take 0.4 mg (400 cele, or anencephaly, AFP leaks from the open
micrograms) of supplemental folic acid per spine into the amniotic fluid, then into the
day while they are trying to conceive and dur- maternal circulation, where it can be detected
ing the first trimester of pregnancy (American in minute amounts. Because other conditions
456 Liptak
in both mother and fetus can lead to elevated PRIMARY NEUROLOGICAL

AFP levels, maternal serum AFP (MSAFP) is IMPAIRMENTS IN CHILDREN
used only as a screening test for NTDs. After a
WITH MENINGOMYELOCELE
positive AFP screen has been obtained, a high-
resolution ultrasound is used to detect specific The malformation leading to meningomyelocele
abnormalities of the fetal head and back that affects the entire CNS (Dahl et al., 1995). Table
have been found with an NTD (Babcock, 1995; 25.1 lists some of the brain abnormalities com-
Norem et al., 2005). Correct interpretation monly found in children with meningomyelo-
of the ultrasound depends a great deal on the cele. These include 1) multiple disorders of the
training and experience of the radiologist con- cranial nerve nuclei (e.g., the visual gaze centers
ducting the study (Bruner et al., 2004). of the brain can be affected, leading to strabis-
If an NTD is suspected after the ultra- mus); 2) abnormalities of the corpus callosum
sound, amniocentesis is performed. The levels (the major bridge between the right and left sides
of two substances in the amniotic fluid, AFP and of the brain); 3) excessive fluid or splitting of the
an enzyme specific for NTDs called acetylcho- spinal cord above the primary lesion, resulting
linesterase (ACH), are measured. The combi- in additional motor impairment; and 4) scattered
nation of elevated levels of AFP and ACH with changes in the brain’s cortex from migration
abnormal ultrasonographic findings makes the defects that are associated with cognitive impair-
diagnosis of an NTD in the fetus quite certain. ments. The primary neurological abnormalities,
Chromosomal analysis of the amniotic fluid is however, are paralysis, loss of sensation, learning
also performed to rule out specific chromo- disabilities, and the Chiari type II malformation
somal disorders (e.g., trisomy 13 and 18) that with associated hydrocephalus.
are associated with NTDs. In some centers,
fetal MRI or 3-D ultrasonography may be per- Paralysis and Loss of Sensation
formed rather than amniocentesis. The extent of motor paralysis and sensory loss
Even if a family is not considering termi- in meningomyelocele depends on the location
nation of the pregnancy if an NTD is detected, of the defect in the spinal cord (Figures 25.3
obtaining a prenatal diagnosis can help the par- and 25.4), as sensory and motor function below
ents plan for the special needs of their child. that point are typically impaired. All individu-
For example, they may opt to deliver their child als with meningomyelocele experience some
via cesarean section at a center with a neonatal loss of sensation. The loss of motor and sensory
intensive care unit (NICU) and to have the back function is not always symmetrical; one side
lesion closed early by an experienced surgeon, may have better motor function or sensation
precautions that some believe may decrease the than the other (Figure 25.5).
severity of paralysis (Liu, Shurtleff, Ellenbogen,
Loeser, & Kropp, 1999). Chiari Malformation
and Hydrocephalus
TREATMENT OF Almost all children with meningomyelocele
MENINGOMYELOCELE above the sacral (pelvic) level have a Chiari
IN THE NEWBORN PERIOD
Table 25.1. Malformations of the brain frequently
When an infant is born with meningomyelo- seen in children with meningomyelocele
cele, the first two priorities are to prevent spi- Malformation Prevalence (%)
nal cord infection (meningitis) and to protect
exposed spinal nerves and associated structures Dysplasia of cerebral cortex 92
from physical injury. Both of these goals can Displaced nerve cells 44
be accomplished by the surgical closure of the Small gyri with abnormal layers 40
defect within the first few days of life. In addi-
Abnormalities of layers 24
tion, a ventricular shunting procedure is often
required shortly after the back closure to pre- Profound primitive development 24
vent cerebrospinal fluid (CSF), which can no Small gyri with normal layers 12
longer leak from an open meningomyelocele, Malformations of the brainstem 76
from accumulating and causing progressive
hydrocephalus and potential brain injury (Tuli, Malformations of the cerebellum 72
Drake, & Lamberti-Pasculli, 2003). Source: Gilbert, Jones, Rorke, Chernoff, & James (1986).
Figure 25.3. This figure shows where movement, sensation, and blad-
der and bowel function are usually controlled in the spinal cord. Menin-
gomyelocele (lesions) at these levels usually prevents typical functioning
at and below the levels shown.
Figure 25.5. Sensory loss (shaded areas) in a child with L3-

Figure 25.4. The vertebral column is divided into seven to L4-level meningomyelocele. The back of the legs has more
neck (cervical), 12 chest (thoracic), five back (lumbar), and five loss than the front. Asymmetry of sensory or motor loss is
lower back (sacral) vertebrae. Meningomyelocele most com- common; sensory loss may not completely correlate with loss
monly affects the thoracolumbar region. of motor function.
458 Liptak
type II malformation of the brain (Steven- resulting from impaired brain control of res-
son, 2004). In this abnormality, the brainstem piration), or central hypoventilation (shallow
and part of the cerebellum are displaced down- breathing leading to low oxygen level resulting
ward toward the neck, rather than remaining from disordered cerebral control of respiration;
within the skull (Figure 25.6). Symptoms and Kirk, Morielli, & Brouillette, 1999). Disordered
signs of brainstem and spinal cord compression sleep can cause children to be tired during the
from the malformation include difficulty swal- day, interfering with their ability to function in
lowing, choking, hoarseness, breath-holding school. A formal sleep study can help differ-
spells, apnea (periodic brief respiratory arrests), entiate among the various problems that can
disordered breathing during sleep, stiffness in cause this disordered breathing. The treatment
the arms, and opisthotonos (arching of the depends on the nature of the breathing disorder
head backward). If symptoms of compression identified by this study. For example, adeno-
develop, they can be treated surgically by a tonsillectomy (surgical removal of adenoids
decompression procedure, in which a portion of and tonsils) may help if the upper airway is
the occipital region of the skull and the arches obstructed. If there is underlying central apnea,
of some of the cervical (neck) vertebral bod- surgery to provide posterior fossa decompres-
ies are removed to provide additional space for sion of the Chiari type II malformation may be
the brainstem. This provides short-term ben- performed, although this is not always effective.
efit, but the long-term effectiveness remains A significant proportion of children with severe
uncertain. Children with more severe symp- breathing disorders who do not respond to the
toms (e.g., vocal cord paralysis) and children above measures will require assisted ventila-
who have been symptomatic for a longer period tion through continuous positive airway pres-
(e.g., months) have worse outcomes following sure (CPAP) or bilevel positive airway pressure
decompressive surgery. (BiPAP) during sleep. The BiPAP machine fits
Disordered breathing during sleep occurs over the child’s face and monitors the child’s
frequently in individuals with meningomyelo- breathing electronically, providing a higher
cele and has been called the “missed diagnosis.” pressure during inhalation and a lower pressure
It may be the result of obstructive sleep apnea during exhalation. If these approaches are not
(brief episodes of respiratory arrest occurring effective, a tracheostomy with mechanical ven-
during sleep and resulting from a temporary tilation may be required.
anatomical obstruction), central apnea (respi- Hydrocephalus occurs in 60%–95% of
ratory arrest during awake or sleep periods children with meningomyelocele and is most
common in thoracolumbar (lower chest)
lesions (Tuli et al., 2003). Hydrocephalus devel-
ops as a result of an abnormal CSF flow pattern,
leading to an enlargement of the ventricular
system of the brain. It can be diagnosed by neu-
roimaging studies: ultrasound in the prenatal
period and in infancy, and CT or MRI in older
children.
Hydrocephalus is treated with a sur-
gically implanted shunt. Shunting diverts
CSF from the enlarged ventricular system to
another place in the body where it can be better
absorbed. The most common type, a VP shunt,
drains fluid into the child’s abdominal cavity
(Figure 25.7). Shunts to the pleural space (sur-
rounding the lungs) are less commonly used as
an alternative. Neither of these types of shunts
necessitates prophylactic antibiotics prior to
dental procedures. However, another approach
involving a shunt to the atrium of the heart
Figure 25.6. Chiari type II malformation and hydrocepha-
does require antibiotic prophylaxis and can
lus. A) The typical brain, with ventricles of normal size (shaded result in inflammation of the kidney (nephri-
area). B) In the Chiari type II malformation and hydrocephalus tis) and chronic embolization to the lungs. As
(shaded area), the brainstem and part of the cerebellum are
displaced downward toward the neck region, which can cause a result, ventriculoatrial shunts are rarely used.
symptoms such as difficulty swallowing and hoarseness. In infants, a ventriculo-subgaleal (ventricle to
scalp) shunt may be implanted as a temporary especially deterioration of physical or cognitive

measure (Tubbs et al., 2003). function, a blocked or infected shunt should be
Shunts can become blocked or infected, investigated. More subtle symptoms of a partial
especially during the first year of life. By shunt failure include a change in personality,
2–3 years of age, approximately half of the decline in school performance, or weakness of
shunts inserted have failed and been replaced the arms or legs (Matson, Mahone, & Zabel,
surgically (Tuli et al., 2003). In infants, signs of 2005).
a blocked shunt include excessive head growth Early recognition of shunt failure or infec-
and a tense anterior fontanel (“soft spot”) on tion is critical, as both complications can be life
the forehead. In all children, a blocked shunt threatening. A child who develops new neuro-
may result in symptoms of lethargy, head- logical symptoms should be evaluated imme-
ache, vomiting, and irritability. The increased diately for shunt failure. If a blocked shunt is
intracranial pressure can also lead to paralysis suspected, the physician may order a neuro-
of the sixth cranial nerve (VI), with resultant imaging study (CT or MRI) to determine if
strabismus and double vision, or to paralysis of the ventricles have increased in size, as well as
upward gaze. A child with an infected shunt can radiographs of the shunt system to determine
display symptoms similar to those seen in shunt if the tubing is broken or kinked. If the shunt
blockage but will also have a fever and an ele- is found to be obstructed, the blocked portion
vated white blood cell count. Signs and symp- will be replaced surgically with a new catheter
toms of a blocked shunt can mimic those of a (tube) and/or valve.
tethered cord or Chiari type II malformation. If the shunt is infected, the child also needs
Therefore, whenever a child with meningomy- to receive intravenous antibiotics. In addition,
elocele develops new neurological symptoms, it may be necessary to remove the infected
shunt surgically and, after antibiotic treat-
ment, replace it with a new one. It is important
to emphasize that the individual with hydro-
cephalus almost always requires a working
shunt throughout his or her life. In some chil-
dren, however, a new surgical procedure called
endoscopic third ventriculostomy may obviate
the need for ventricular shunts. This technique
involves placing a hole in the floor of one of
the ventricles to drain CSF within the brain.
Its safety and effectiveness in the treatment of
children with hydrocephalus associated with
NTDs is still uncertain (Marlin, 2004; Warf
et al., 2009).
AND MEDICAL COMPLICATIONS
Meningomyelocele, hydrocephalus, and the
associated malformations of the brain lead to
developmental disabilities and place the child
at risk for a number of medical complications
(Verhoef et al., 2004). These associated dis-
abilities include mobility impairment, cogni-
tive impairments, seizure disorders, fine motor
impairments, and visual impairment. Medical
complications include musculoskeletal abnor-
malities, spinal curvatures and humps, urinary
and bowel dysfunction, skin sores, disordered
Figure 25.7. A ventriculoperitoneal shunt, which has been
placed for hydrocephalus. A plastic tube is inserted into one breathing, atypical weight and stature, sexual
of the lateral ventricles and connected to a one-way valve. issues (such as dysfunction and precocious
Another tube runs under the skin from the valve to the puberty), and allergy to latex. Many of these
abdominal cavity. Enough extra tubing is left in the abdomen
to uncoil as the child grows. disabilities and medical complications can be
460 Liptak
prevented, or their impact lessened, by meticu- adolescence, as it offers the advantages of speed,
lous clinical care and monitoring by the family, efficiency, and attractiveness.
the child, and health care professionals.
Intellectual Impairments
Mobility Impairments Approximately three quarters of children with
The higher the level of the meningomyelocele meningomyelocele have intelligence quotient
and the greater the muscle weakness, the more (IQ) scores that fall within the typical range (IQ
ambulation will be impaired. Even children > 70; Barf et al., 2004). Most of the remaining
with low-level lesions (L4 and below), however, one quarter have mild intellectual disability (IQ
are likely to have significant impairment in 55–70). Children with meningomyelocele but
mobility. Many infants with meningomyelocele without hydrocephalus have higher IQs, bet-
have delayed rolling, sitting, and walking skills. ter memory, and better executive function than
Children with sacral lesions generally learn those with hydrocephalus (Lindquist, Uve-
to walk well by 2 or 3 years of age with bracing brant, Rehn, & Carlsson, 2009). In one study,
at the ankles or no bracing at all (Table 25.2). half of the adolescents with spina bifida plus
Children with low lumbar level lesions can hydrocephalus required special intervention
usually walk with short leg braces and forearm for secondary education, compared with only
crutches. Children with high lumbar-thoracic 8% for those with spina bifida without hydro-
lesions may stand upright and walk for short cephalus (Barf et al., 2004). The few children
distances, but often with support of the hips, with meningomyelocele who have severe intel-
knees, and ankles. This support may be provided lectual disability usually have sustained second-
by extensive bracing and/or mobility devices, ary brain injury resulting from severe prenatal
such as a parapodium (an adjustable standing hydrocephalus or a complicating brain infec-
brace), a reciprocal gait orthosis (RGO), or a tion resulting from an infected shunt.
hip-knee-ankle-foot orthosis (HKAFO) used in Although the majority of children with
combination with crutches or a walker. By early meningomyelocele have average intellectual
adolescence, most use a wheelchair for primary function, they often have impairments in per-
mobility. ceptual skills, organizational abilities, attention
As children with low lumbar level lesions span, speed of motor response, memory, prag-
approach adolescence, and their center of grav- matic language, and hand function (Norrlin,
ity and relative strength changes, most will Dahl, & Rosblad, 2004). By school age, many
rely increasingly on wheelchairs for mobility children with meningomyelocele and hydro-
(Norrlin, Strinnholm, Carlsson, & Dahl, 2003; cephalus are diagnosed with a nonverbal learn-
van den Berg-Emons et al., 2001). Because ing disability (see Chapter 23). These children
most children with meningomyelocele will typically have better reading than math skills.
not become effective community ambulators, In addition to the learning disability, they often
the supplemental or primary use of a wheel- have impairments in executive function that
chair should be considered at least by early have an impact on education, social, and self-
help skills. Executive function skills include the
ability to plan, initiate, sequence, sustain, inhibit
Table 25.2. Functional levels in children with competing responses, and pace work (Burmeis-
meningomyelocele and implications for mobility
ter et al., 2005). For example, the child may
Level Mobility know the steps involved in self-catheterization
High lumbar- Can walk for short distances but may have difficulty planning and carrying
thoracic using long leg (high) out the process. Also, disorders of the cer-
braces. By early adoles- ebellum have been associated with intellectual
cence most use wheelchair
for mobility. impairments, including impairments in execu-
tive function, visual-spatial function, expressive
Low lumbar Can walk with short leg
braces and forearm
language, verbal memory, and modulation of
crutches. affect (Barnes, Dennis, & Hetherington, 2004;
Iddon, Morgan, Loveday, Sahakian, & Pick-
High sacral Can walk with a gluteal lurch
using braces to stabi- ard, 2004; Simos et al., 2011). Many children
lize the ankle and foot. with meningomyelocele have attention-deficit/
Walking ability is usually hyperactivity disorder (ADHD), but only about
retained through adoles- one third of them respond to stimulant medica-
cence.
tion (Burmeister et al., 2005; see Chapter 22).
Because children with meningomyelo- correction is controversial and may be appro-

cele are at increased risk for multiple develop- priate only for those children with low lumbar
mental disabilities, they should be referred to paralysis who have the potential for functional
an early intervention program during infancy ambulation (Lorente, Molto, & Martinez,
(see Chapter 30). This should be followed by 2005). The goals of orthopedic treatment are to
a formal psychoeducational evaluation prior to maintain alignment and range of motion, stabi-
school entry to identify strengths and weak- lize the spine and extremities, maximize func-
nesses and to develop an IEP (see Chapter 31). tion, provide comfort, and protect the skin. Loss
of muscle strength and inactivity predispose
Seizure Disorders affected children to fractures (Dosa, Eckrich,
Approximately 15% of individuals with menin- Katz, Turk, & Liptak, 2007). These pathologi-
gomyelocele develop a seizure disorder (Battaglia cal fractures may also occur after orthopedic
et al., 2004). The seizures usually are generalized surgery, especially following prolonged casting.
tonic-clonic and respond well to antiepileptic All individuals with spina bifida should receive
medication (see Chapter 27). If a new type of sei- adequate calcium and vitamin D in order to
zure develops or if seizure frequency increases, minimize osteoporosis and the susceptibility to
however, a blocked shunt or shunt infection pathological fractures. This is especially true if
should be suspected and investigated. the child is taking antiepileptic drugs that inter-
fere with calcium and vitamin D metabolism.
Visual Impairments In addition, weight-bearing activities should be
encouraged whenever possible. Following sur-
Strabismus (lazy eye) is present in about 20% gical procedures, steps should be taken to pre-
of children with meningomyelocele and often vent deep vein thrombosis, which predisposes
requires surgical correction (Verhoef et al., the individual to pulmonary emboli. Lastly,
2004). Visual impairments can result from as individuals with spina bifida age, they may
abnormalities of the visual gaze center in the develop arthritis of the hips or knees second-
brain or from increased intracranial pressure ary to abnormal sensation and gait (Nagarkatti,
caused by a malfunctioning ventricular shunt Banta, & Thomson, 2000).
(see Chapter 11). All children with meningo-
myelocele should see an ophthalmologist at Spinal Curvatures and Humps
least once prior to starting school. Almost 90% of children with a meningomy-
elocele above the sacral level have spinal cur-
Musculoskeletal Abnormalities vatures and/or humps (Trivedi et al., 2002).
With partial or total paralysis, muscle imbal- These deformities include scoliosis (a spinal
ances and lack of mobility may lead to deformi- curvature), kyphosis (a spinal hump; see Fig-
ties around joints (Dias, 2004). This can occur ure 25.8), and kyphoscoliosis (a combination
even prior to birth. For example, children with of both conditions). Scoliosis and kyphosis may
meningomyelocele may be born with a calca- be present before birth (congenital) or develop
neus deformity (clubfoot) as a result of the later in childhood (acquired). If untreated, spi-
foot being pressed against the uterine wall and nal deformities may eventually interfere with
becoming stuck in one position. Treatment of sitting and walking and even decrease lung
clubfoot typically involves serial casting dur- capacity.
ing the first 3–4 months of life to gradually Scoliosis greater than 25 degrees is treated
straighten the deformity. Corrective surgery, if with an orthotic support, a molded plastic
needed, can then follow at 4 months to 1 year shieldlike orthotic jacket called a thoracolum-
of age (Flynn et al., 2004). Other ankle and foot bosacral orthosis (TLSO). Despite this, the
deformities may require surgical intervention to curvature often progresses, and surgery may
facilitate proper foot placement in shoes. Brac- be necessary (Parisini, Greggi, Di Silvestre,
ing is used to help maintain proper positioning Giardina, & Bakaloudis, 2002). Surgical correc-
of joints and should be monitored to minimize tion involves a spinal fusion with bone grafts.
the occurrence of skin breakdown over bony This often requires two surgical procedures,
prominences (e.g., decubitus ulcers of the ankle one through the front and one from the back.
or buttocks). The procedures use metal rods (internal fixa-
Muscle imbalance and lack of move- tion) and wires (Luque procedure; see Chapter
ment also can lead to hip deformities. Surgical 24, Figure 24.19) for stabilization of the spinal
462 Liptak
Figure 25.8. Common spinal deformities associated with meningomyelocele.
column. The two-stage procedure has been to rapidly progressive scoliosis. Surgery to
successfully replaced by a single frontal (ante- untether the cord may halt or even reverse the
rior) approach in some children whose curve is progression of the curve in individuals whose
less than 75 degrees in the absence of abnor- curves are less than 50 degrees at the time
malities of the spinal cord. A new device, the of surgery (Pierz, Banta, Thomson, Gahm,
vertebral expandable prosthetic titanium rib & Hartford, 2000). In addition, a significant
(or growing rod) has been used with success in number of individuals with spina bifida will
the treatment of scoliosis in some children who have an abnormal fluid collection in the spi-
have spina bifida (Flynn et al., 2011). Children nal cord or even thinning (hypoplasia) of
with congenital rather than developmental sco- the cord (Moskowitz, Shurtleff, Weinberger,
liosis or kyphosis generally respond poorly to Loeser, & Ellenbogen, 1998). Because spinal
orthotic treatment and require spinal fusion at surgery fuses the bones of the spine, making
younger ages. subsequent neurological surgery especially
Kyphosis is usually located in the thoracic challenging, many centers obtain an MRI scan
spine and may measure as much as 80–90 degrees of the spine on all individuals prior to surgery
at birth. The hump on the spine may be rigid for kyphosis or scoliosis. In this way, they can
and may worsen over time. Surgical removal of identify tethering or cavities in the spinal cord
the deformity is accomplished by an operation that might require surgery prior to the ortho-
called a kyphectomy. This procedure has a high pedic procedure. Following scoliosis surgery,
rate of complications and recurrences in infancy, some children benefit in seating; however,
but when performed in school-age children it overall physical functioning and quality of life
has been quite effective (Niall, Dowling, Fog- are not improved significantly. Major compli-
arty, Moore, & Goldberg, 2004). cation rates following scoliosis surgery exceed
Some evidence indicates that tethering 50% (Mercado, Alman, & Wright, 2007;
of the spinal cord (discussed later) may lead Wright, 2010).
Urinary Dysfunction long-term prophylactic oral antibiotics such

as cephalexin (Keflex) or trimethoprim/sulfa-
Because the bladder, urethra (urinary outlet), methoxazole (Bactrim, Septra) may be given to
and rectum are all controlled by nerves that prevent infections. Alternatively, antibiotics can
leave the spinal cord in the lower sacrum (see be instilled directly into the bladder through
Figure 25.3), bladder and bowel dysfunction the catheter. Neither of these procedures has
are present in virtually all children with menin- been validated with scientific research.
gomyelocele. Even children with sacral lesions Attempts to achieve urinary continence are
and normal leg movement typically have blad- generally begun at 3–4 years of age. In addition,
der and bowel problems. In addition, children medications may be used. Oxybutynin chloride
with meningomyelocele have a higher inci- (Ditropan) can be given orally or instilled into
dence of malformations of the kidneys, such as the bladder to diminish bladder wall contrac-
a horseshoe kidney and an absent kidney. tions; newer agents such as propiverine (Detru-
The bladder has two major functions: 1) to norm) may be better tolerated (Madersbacher
store urine that has been produced by the kid- et al., 2009). Pseudoephedrine (Sudafed) or
neys, and 2) to empty the urine once the blad- imipramine (Tofranil) may be given orally to
der is full. Children with meningomyelocele enhance storage of urine. About 70% of chil-
often have difficulty with both functions and dren who receive a combination of CIC and
are consequently incontinent. In addition, the medications achieve continence during elemen-
inability to completely empty the bladder of tary school.
urine may predispose the child to infections of If CIC and medication are unsuccessful in
the bladder and/or kidneys. The combination producing continence, a surgical intervention
of a tight bladder outlet and increased tone in may be undertaken. In the past, a silicone-like
the bladder also may produce kidney damage material was injected around the urethra using
over time (Hopps & Kropp, 2003; Snodgrass & an endoscope; however, its long-term effective-
Adams, 2004). ness has been questioned (Block, Cooper, &
To detect early structural damage, the uri- Hawtrey, 2003; Dean, Kirsch, Packer, Scherz, &
nary tract is imaged using ultrasound at regular Zaontz, 2007; Halachmi et al., 2004). Another
intervals beginning in infancy. It also permits approach is a bladder augmentation procedure,
detection of malformations and abnormal in which the bladder capacity is increased using
functioning of the bladder and urinary outlet. a flap of bowel or stomach. A third procedure is
Bladder function additionally may be evaluated an appendicovesicostomy (Mitrofanoff proce-
using a cystometrogram, a procedure in which dure), in which the appendix is used to connect
fluid is injected into the bladder and pressure is the bladder to the abdominal wall, permitting
measured. If elevated pressure is found, it must catheterization through the appendix. These
be reduced to avoid permanent kidney damage. approaches may be used in combination. A new
Reducing bladder pressure (and achieving experimental surgical procedure (Xiao, 2006)
continence) is accomplished by using daily CIC that disconnects sensory nerves from the spinal
(Hopps & Kropp, 2003). In CIC, the child or cord and connects them to the bladder nerves
his or her parents are taught to insert a clean, has been touted as being extremely successful
but not sterile, catheter through the urethra in partially restoring bladder function but these
and into the bladder. This commonly is done results need to be replicated.
at least four times per day to drain urine. When “Volitional” voiding is also possible using
CIC is performed correctly, urine does not an artificial urinary sphincter that surrounds
accumulate, become infected, or flow back into the urethra and stays closed to prevent leak-
the kidneys. In some infants, however, this is age of urine. A bulb mechanism is placed in the
not successful and a surgical procedure called scrotum or labia majora; when it is squeezed,
a vesicostomy is performed. In this procedure, fluid flows out of the artificial sphincter allow-
an opening through the abdominal wall and ing urine to drain from the bladder. However,
into the bladder is created, allowing urine to complications are common with this procedure,
drain directly into the diaper. When the child is including erosion of the skin around the bulb
older, the vesicostomy typically is closed surgi- and poor adherence leading to overdistension
cally and he or she begins a CIC program. of the bladder with resultant kidney damage
In addition to assessing bladder pressure, (Kryger, Spencer Barthold, Fleming, & Gonza-
the infant is monitored for urinary infections, lez, 1999). Yet, for a select group of highly moti-
which occur in at least half of individuals with vated individuals, the artificial sphincter can
meningomyelocele. If these happen frequently, permit volitional voiding. In the past 5 years,
464 Liptak
botulinum toxin (Botox) has been injected into about 60% of individuals were still using their
the bladder muscles of children with neuro- ACE 5 years after the surgery (Yardley et al.,
genic bladder; the goal is to relax the muscle 2009). There is a newer ACE procedure in
and increase bladder capacity. Preliminary stud- which a surgical hole is placed on the left side of
ies show improvement in bladder capacity and the abdomen; irrigation fluids can be inserted
continence (Deshpande, Sampang, & Smith, into the descending colon, allowing more rapid
2010). Finally, because the risk of bladder can- washout of stool (Ahn, Han, & Choi, 2004;
cer is increased, adults with meningomyelocele Kim, Han, & Choi, 2006). Its long-term effec-
should be monitored annually with endoscopy tiveness, however, has not been established.
of the bladder and cytological analysis of the For a select group of older children with
cells from the urine (Gamé et al., 2006). low-level (sacral) meningomyeloceles who
have rectal sensation, biofeedback training
Bowel Dysfunction may be used to improve rectal function (Aslan
Bowel problems in children with meningomy- & Kogan, 2002). In this training technique,
elocele are related to uncoordinated propulsive children use a balloon pressure transducer con-
action of the intestines, ineffectual function of nected to a visible pressure monitor to optimize
the anus, and lack of rectal sensation. Constipa- rectal function, including coordinating efforts
tion is common and may be interspersed with to expulse stool.
periods of overflow diarrhea. Lack of sensation
and failure of anal function also lead to soiling Skin Sores
that can be socially devastating. In individuals Skin sores, or decubitus ulcers, frequently
with typical bowel function, the rectal sam- occur in children with meningomyelocele,
pling reflex can discriminate between gas, liq- whose weight-bearing surfaces (e.g., feet, but-
uid stool, and solid stool. Absence of this reflex tocks) are not sensitive to pain. These children
in children with meningomyelocele worsens may sustain injuries that they do not feel, often
continence. resulting in a skin sore. This problem becomes
Attempts at bowel management can begin more common during adolescence and, if not
as soon as the child starts eating solids, by caught early, the decubitus ulcer may require
encouraging the consumption of foods that are prolonged hospitalizations for debridement
high in fiber. Between 2½ and 4 years of age, (removal of dead tissue), plastic surgery, and
timed potty sitting can be tried after every meal intravenous antibiotics. Therefore, the best
to take advantage of the postfeeding gastro- treatment is prevention. Certain reasonable
colic (propulsive) reflex. If bowel control has rules should be followed: 1) examine insensate
not been achieved after several months, parents skin regularly to detect small sores, 2) replace
may be instructed to administer one or more tight-fitting shoes or braces with looser-fitting
of the following medications that will facilitate ones, 3) avoid hot baths, 4) give the child pro-
more complete bowel emptying: 1) a daily laxa- tective foot covering for swimming, 5) do not
tive such as lactulose (a complex sugar), Mira- let the young child crawl about on rough or hot
LAX (an agent that keeps water in the stool), surfaces, and 6) ensure that wheelchair cushions
or senna (e.g., Senokot); 2) a fiber supplement continue to be protective.
such as psyllium (e.g., Metamucil); or 3) a For children in wheelchairs, pressure sores
nightly rectal suppository such as bisacodyl on the buttocks or coccyx (tail bone) can be
(e.g., Dulcolax), or daily saline enemas. These prevented by modifying the wheelchair with an
may be used in combination. adaptive seating system. Individuals can mini-
Two surgical procedures, one that connects mize prolonged pressure by performing regu-
the appendix to the colon (Malone procedure) lar wheelchair push-ups to relieve pressure and
and another that provides a direct connection by frequently changing position (Samaniego,
between the abdominal wall and the colon 2002). Small skin sores should be treated by
(cecostomy), allow irrigation of the colon on a alleviating pressure and using saline-soaked
regular basis (ACE procedure). The cecostomy dressings or artificial skin preparations, such
can be performed either in the operating room as Tegaderm or Vigilon. If ulcers do not heal
or in an interventional radiology suite. These in a reasonable time, an underlying infection
approaches have been shown to be successful may be present, requiring surgical debridement
in children for whom more conventional bowel and intravenous antibiotic treatment. Many
techniques have failed (Aksnes et al., 2002; Lei- new coverings and techniques, such as vacuum-
bold, Ekmark, & Adams, 2000). In one study, assisted closure, have been tried to heal pressure
ulcers. The most important rule, however, is levels (Gatti et al., 2009). It should be noted
that the only thing that should not be placed on that because of the high risk of latex allergy in
a pressure sore is the child! spina bifida, nonlatex condoms should be used.
Females with meningomyelocele have nor-
Weight and Stature Abnormalities mal fertility and, if sexually active, should use the
Children with meningomyelocele, particularly same precautions to avoid pregnancy and sexu-
those with thoracic to L2 lumbar lesions, are ally transmitted diseases as the general popula-
at increased risk for obesity (Dosa, Foley, Eck- tion. Although many of these women are able
rich, Woodall-Ruff, & Liptak, 2009). About to experience orgasm during sexual intercourse,
two thirds of these children are significantly they usually have decreased genital sensation
overweight. Attention should be directed at and less sexually stimulated lubrication. As a
increasing involvement in physical activities result, frequent intercourse without adequate
such as aerobic conditioning (e.g., wheelchair lubrication can lead to vaginal sores. Preco-
sports) and strength training, such as lifting cious puberty (breast development, menarche,
free weights (Buffart, van den Berg-Emons, van and other sexual changes 2 or more years before
Meeteren, Stam, & Roebroeck, 2009; Widman, average) is a common occurrence in females
McDonald, & Abresch, 2006). Exercise should who have meningomyelocele with hydroceph-
be combined with dietary restrictions of sweets alus due to a disorder of the hypothalamus (a
and fats, especially because children who have part of the brain that controls certain endocrine
paraplegia need fewer calories to grow and hormones). This can be treated with leupro-
maintain typical weight. Affected children also lide (Lupron), a synthetic sex hormone that can
are likely to have short stature. This results from slow sexual development (Trollmann, Strehl,
a combination of failure of growth of the legs, & Dorr, 1998). Women with meningomyelo-
spinal curves, and, occasionally, a deficiency cele who become pregnant benefit from close
of growth hormone (Hochhaus, Butenandt, monitoring during gestation. Problems such
& Ring-Mrozik, 1999). Long-term treatment as recurrent urinary tract infections, persistent
of select individuals with recombinant human decubitus ulcers, back pain or slipped disk, and
growth hormone may lead to more typical final difficult vaginal delivery secondary to hip con-
adult stature (Rotenstein & Bass, 2004; Troll- tractures may occur. Although these are con-
mann, Bakker, Lundberg, & Dorr, 2006). cerns, it is important to note that most women
with meningomyelocele have good pregnancy
Sexual Issues outcomes with relatively few complications
Although three quarters of adult males with (Arata, Grover, Dunne, & Bryan, 2000). Sexual
meningomyelocele can have erections, most do abuse of women and female teenagers who have
not have control of them (Gamé et al., 2006). spina bifida appears to be more common than
Penile implants, injection, or application of that found in the general population (Wood-
prostaglandin prior to coitus (Kim & McVary, house, 2005).
1995); vacuum devices (Chen, Godschalk,
Katz, & Mulligan, 1995); and sildenafil (Viagra; Allergy to Latex
Palmer, Kaplan, & Firlit, 1999) can help males Between 1990 and 2000, more than half of all
achieve volitional erections that allow inter- children with meningomyelocele developed an
course. There may be the additional problem allergy to latex in childhood (Cremer, Kleine-
of retrograde ejaculation, in which the semen Diepenbruck, Hering, & Holschneider, 2002).
is discharged into the bladder. Despite this, two Although the reason for this is unclear, the
thirds of males with spina bifida have sufficient allergy seems to be more common in children
sperm in their ejaculate to permit fatherhood who have had frequent surgical procedures.
using artificial insemination or in vitro fertiliza- The risk of allergy increases as the child gets
tion (Hultling, Levi, Amark, & Sjöblom, 2000). older (Mazon et al., 2000). This allergic reac-
Although there are many sexual and reproduction can be life threatening. Latex allergy can
tive health issues relating to meningomyelocele, be diagnosed by a clear history of an allergic
in a survey of young adults with spina bifida, reaction to latex, by skin testing, or by immu-
95% stated that they had inadequate knowledge noassay blood testing (Nieto, Mazon, Estornell,
about these issues (Sawyer & Roberts, 1999). In Reig, & Garcia-Ibarra, 2000). As a result of the
a recent study, adults with the highest chance of high prevalence of allergy to latex in these chil-
finding a partner and engaging in sexual activity dren, all surgical procedures, including dental
were those with the lowest (least severe) lesion procedures, should occur in latex-free settings.
466 Liptak
Early contact of the infant to latex should be first year should include evaluations of range
avoided, if possible, in an effort to prevent the of joint motion, muscle tone, strength and
development of allergy. Catheterization should bulk, sensation, movement skills, postural con-
be performed with nonlatex catheters, and non- trol, and sensory integration skills. Treatment
latex gloves should be used during care. Toys should focus on maintaining range of motion,
that contain significant amounts of latex, such enhancing strength, and moving toward stand-
as balloons and rubber balls, should be avoided, ing and ambulation. Because of the considerable
as should latex products that come into contact variability in the degree of motor delay among
with the skin, such as Band-Aids and Ace wraps. these children, individualized intervention
Since the 1990s, latex-avoidance programs have plans must be developed. Adaptive equipment
been implemented around the country. Lower should be provided as needed (see Chapter 36).
rates of latex sensitization have been found in As the child moves toward school entry, it
children born after the avoidance programs is important to perform psychoeducational test-
have been instituted (Blumchen et al., 2010). ing. This permits the identification of the child’s
cognitive and learning strengths and chal-
Neurological Deterioration lenges, the development of realistic expecta-
If a child’s strength, bowel and bladder function, tions that will optimize the child’s learning, and
or daily living skills deteriorate, a cause must be the planning of an IEP for school. PT should be
sought. The origin of the deterioration may be provided as part of the school program. Yearly
a malfunctioning or blocked ventricular shunt, reassessments will permit modification of the
a tethered spinal cord, or, rarely, swelling in program based on the child’s changing needs
(syrinx, syringomyelia, or hydromyelia) or split- (Thompson, 1997; see Chapter 31).
ting of (diastematomyelia or diplomyelia) the
spinal cord. A tethered spinal cord may result PSYCHOSOCIAL
from 1) scarring at the site of the initial surgery
ISSUES FOR THE CHILD
to close the back, 2) scoliosis, or 3) the pressure
of a lipoma. Pressure or stretch on the tethered During the preschool years, the achievement of
cord leads to poor circulation and diminished independence may be thwarted by difficulties
motor functioning. The Chiari type II malfor- with mobility and bladder and bowel control.
mation may become symptomatic, too, leading A sense of industry that develops in the school-
to difficulty with swallowing, hoarseness, weak- age child may be reduced by the child’s execu-
ness of the arms, or difficulty with respiration. tive function impairments, as well as by his or
All children who present with neurologi- her inability to compete with peers in physical
cal deterioration should be evaluated for struc- activities and sports. Difficulty in the school
ture and function of the ventricular shunt. This environment may exacerbate a preexisting poor
involves imaging of the head (e.g., CT, MRI) self-image that many of these children have as
with or without plain radiographic imaging of a result of their physical disabilities. The feel-
the shunt from head to abdomen (to look for ing of being different can impair the establish-
a break in the tubing). In addition, the poste- ment of peer relationships in both school and
rior fossa and spinal cord should be evaluated community. The child’s self-esteem also may be
by head MRI with flow (to look for Chiari type lowered if he or she must continue to wear dia-
II malformation and for tethered, swollen, or pers or care for an ostomy bag (Moore, Kogan,
split cord, respectively; Levy, 1999) and by spi- & Parekh, 2004).
nal MRI. If identified early, each of these prob- Teenagers with spina bifida tend to be more
lems can be addressed successfully. A blocked socially immature and passive, more socially
shunt can be replaced, a tethered cord released, isolated, less independent, and less physically
a lipoma removed, and a posterior fossa decom- active (Holmbeck et al., 2003). During adoles-
pressed. Treatment of a split or swollen cord, cence, lower self-esteem may relate to a poor
however, is more controversial and often less body image and difficulty in dealing with sexual
rewarding (Piatt, 2004). changes and feelings. Positive self-image has
been linked to factors such as higher socioeco-
EDUCATIONAL PROGRAMS nomic status (Holmbeck et al., 2003) and the
presence of social supports (Antle, 2004). Issues
Referral to an early intervention program for the young adult with meningomyelocele
should occur by 6 months of age (see Chapter may include increased social isolation, a realiza-
30). Sensorimotor assessment during the child’s tion that the disability is permanent, and sexual
dysfunction. Achieving good social outcomes as care of meningomyelocele; a nurse specialist;

adults, including living independently, attend- physical and occupational therapists; a social
ing college, being employed, and establishing worker; consulting orthopedic, urological, and
social relationships (romantic and platonic), neurosurgeons; and an orthotist. Other team
have been associated with the adolescent’s members or consultants may include a psychol-
level of executive function, socioeconomic ogist, plastic surgeon, dentist, special educator,
status, intrinsic motivation, and parental sup- speech-language pathologist, genetic counselor,
port (Zukerman, Devine, & Holmbeck, 2010). and financial counselor. The services that the
Behavior problems do not necessarily relate to child needs and receives should be coordinated
the severity of physical impairment but are cor- by a designated service coordinator. Efforts
related with functional status, such as scholastic should be made to empower the child and fam-
achievement (Hommeyer, Holmbeck, Wills, ily by involving them in the design of a manage-
& Coers, 1999). Several programs, such as the ment plan that is both appropriate and realistic.
New York State Institute for Health Transition The successful development of the child
Training for Youth with Developmental Dis- with meningomyelocele is largely dependent on
abilities, and Spina Bifida University (Spina how well the family is able to meet the child’s
Bifida Association, 2010) are available to help needs. This requires emotional and behavioral
adolescents with spina bifida transition to inde- supports, realistic expectations, special edu-
pendence successfully as they enter adulthood. cation services, and coordinated community
Some studies have found a higher than services. The care of a child with meningomy-
expected rate of depression in individuals with elocele is expensive, with lifetime cost of illness
meningomyelocele compared to age peers estimated to be $635,000 (in 2002 dollars; Case
(Bellin et al., 2010). However, medical prob- & Canfield, 2009). Therefore, one of the pri-
lems, such as an adverse reaction to medication, orities of care is to provide financial counseling
problems with the ventricular shunt, and infec- to families.
tions, can cause similar symptoms to depression
and must be ruled out. Many individuals with
meningomyelocele develop learned helpless-
OUTCOME
ness; they behave in a helpless pattern, even The survival rate of children with meningomy-
when the opportunity to avoid or address a neg- elocele improved dramatically between 1950
ative circumstance is present. This contributes and 1970. For instance, in the 1950s survival to
to depressive feelings. Depression should be adulthood was less than 10% (Dunne & Shur-
recognized and brought to the attention of an tleff, 1986); in the 1990s, about 85% of children
appropriate health care professional. A multi- with meningomyelocele survived to adulthood
modal approach including counseling, exercise (Davis et al., 2005). This improved survival has
programs, and medications, especially selective resulted from many factors, including the use of
serotonin reuptake inhibitors such as fluoxetine VP shunts to control hydrocephalus and the pre-
(Prozac), is usually effective. vention of kidney damage by CIC and urological
surgery. However, survival remains well below
that of the general population. In a 40-year
INTERDISCIPLINARY
follow-up, Oakeshott, Hunt, Poulton, and Reid
MANAGEMENT (2010) found that mortality rates between the
The goals of therapy are to improve function- ages of 5 and 40 years were almost 10 times
ing and independence and to prevent or correct higher than the national average; more than half
secondary physical or emotional impairments. of the deaths of individuals over the age of 5 were
This generally involves surgical interventions, described as sudden and unexpected.
adaptive equipment, special education services, Outcome data for adults are incomplete,
and psychosocial support for the child and fam- and the population is quite heterogeneous.
ily (see Chapter 37). As a result of the complexity One center found that half the individuals with
of the resultant disabilities, an interdisciplinary meningomyelocele were able to walk 50 yards
approach to treating the child with menin- or more in adulthood (Hunt, 1990; Hunt, 1999;
gomyelocele is essential (McDonald, 1995). Hunt & Oakeshott, 2003). Half were also able
The team of health care professionals should to maintain urinary and bowel continence.
include a physician (e.g., neurodevelopmental Overall, 12% had minimal disabilities, with
pediatrician, pediatric neurologist, physiatrist) average IQ scores, community ambulation, and
with particular interest and expertise in the well-managed continence; 52% had moderate
468 Liptak
disability with borderline IQ scores, the ability sigmoidostomy. Pediatric Surgery International, 20,
to attend to toilet needs independently, and the 488–491.
Aksnes, G., Diseth, T.H., Helseth, A., Edwin, B.,
ability to use and transfer from a wheelchair. Stange, M., Aafos, G., & Emblem, R. (2002). Appen-
Severe disability involving intellectual disabil- dicostomy for antegrade enema: Effects on somatic
ity, incontinence, and dependence for most and psychosocial functioning in children with
self-help skills was found in 37% of the indi- meningomyelocele. Pediatrics, 109(3), 484–489.
American Academy of Pediatrics, Committee on
viduals and was most often related to a history
Genetics. (1999). Folic acid for the prevention of neu-
of shunt infections or shunt failure. Adults with ral tube defects. Pediatrics, 104, 325–327.
hydrocephalus have persistent learning disabili- Antle, B.J. (2004). Factors associated with self-worth
ties, including difficulties with executive func- in young people with physical disabilities. Health &
tion (Barnes et al., 2004; Iddon et al., 2004). Social Work, 29(3), 167–175.
Arata, M., Grover, S., Dunne, K., & Bryan, D. (2000).
Verhoef et al. (2004) found that pain was com- Pregnancy outcome and complications in women
mon in adults with spina bifida; males frequently with spina bifida. The Journal of Reproductive Medi-
had problems with sexual function. About 15% cine, 45(9), 743–748.
of adults in that study had problems with pres- Aslan, A.R., & Kogan, B.A. (2002). Conservative man-
agement in neurogenic bladder dysfunction. Current
sure sores.
Opinion in Urology, 12, 473–477.
Babcock, C.J. (1995). Ultrasound evaluation of prena-
tal and neonatal spina bifida. Neurosurgery Clinics of
SUMMARY North America, 6, 203–218.
Bahado-Singh, R.O., & Sutton-Riley, J. (2004). Bio-
In meningomyelocele, which is a form of NTD, chemical screening for congenital defects. Obstetrics
an overlying sac protruding from the spine con- and Gynecology Clinics of North America, 31, 857–872,
tains a malformed spinal cord; this leads to the xi.
most complex birth defect compatible with life. Barf, H.A., Verhoef, M., Post, M.W., Jennekens-Schin-
kel, A., Gooskens, R.H., Mullaart, R.A., & Prevo,
Paralysis and loss of sensation occur below the
A.J. (2004). Educational career and predictors of
level of the spinal cord defect, usually associ- type of education in young adults with spina bifida.
ated with hydrocephalus. Numerous disabilities International Journal of Rehabilitation Research, 27(1),
arise as a consequence of this condition, includ- 45–52.
ing paralysis, musculoskeletal abnormalities, Barnes, M., Dennis, M., & Hetherington, R. (2004).
Reading and writing skills in young adults with spina
bowel and bladder incontinence, impotence, bifida and hydrocephalus. Journal of the International
obesity, and cognitive impairments, including Neuropsychological Society, 10(5), 655–663.
nonverbal learning disorders. Meningomy- Bartonek, A., & Saraste, H. (2001). Factors influencing
elocele, however, should be considered a non- ambulation in myelomeningocele: A cross-sectional
study. Developmental Medicine and Child Neurology, 43,
progressive condition, and any deterioration in
253–260.
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cause, such as a blocked ventricular shunt or a Garver, K., Linroth, R., & Braun, P. (2010). Corre-
tethered spinal cord. Advances in surgical and lates of depressive and anxiety symptoms in young
medical care have enhanced the survival and adults with spina bifida. Journal of Pediatric Psychology,
35(7), 778–789.
physical well-being of individuals with menin- Block, C.A., Cooper, C.S., & Hawtrey, C.E. (2003).
gomyelocele but have not completely cor- Long-term efficacy of periurethral collagen injection
rected the associated impairments. To help a for the treatment of urinary incontinence secondary
child with meningomyelocele reach his or her to myelomeningocele. The Journal of Urology, 169(1),
327–329.
potential, professionals must advocate for the
Blumchen, K., Bayer, P., Buck, D., Michael, T., Cre-
child and family in the areas of education and mer, R., Fricke, C., … Niggemann, B. (2010). Effects
psychosocial adjustment while providing inte- of latex avoidance on latex sensitization, atopy and
grated, high-quality health care. allergic diseases in patients with spina bifida. Allergy,
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26 Traumatic Brain Injury
Melissa K. Trovato and Scott C. Schultz

■ Know the incidence and causes of traumatic brain injury (TBI) in children
■ Understand the types of brain injuries that can occur
■ Be able to distinguish between different severities of brain injury
■ Understand the treatment and rehabilitation processes associated with TBI
■ Understand why a comprehensive and multidisciplinary approach is effective
and sometimes necessary during TBI recovery
■ Be able to determine ways to reduce the risk of TBI in children
Traumatic brain injury (TBI) is a nondegenera- with peers and family in school and at home.
tive, noncongenital insult to the brain result- Because TBI can cause multiple areas of dam-
ing from an external mechanical force. After age, a comprehensive, multidisciplinary, team-
a TBI, the child will likely need to be brought oriented approach to rehabilitation is essential
to the emergency department (ED) for further to identify problems and provide strategies
evaluation and potentially acute treatment. If both in the home and school environment.
neurological impairments persist after the acute
period, the child may need inpatient or outpa- ■ ■ ■ PAUL
tient rehabilitation. Fortunately, in most TBI Paul was 9 years old when he was involved in
cases in children the trauma is not severe and a motor vehicle collision. He was a belted pas-
symptoms resolve within the first few weeks senger in the backseat of the family vehicle. The
or months after injury. In severe TBI, how- vehicle was hit on the driver’s side by a tractor
ever, many different cognitive and motor areas
trailer while traveling on the highway. Paul was
may be affected, including the ability to walk,
unresponsive at the scene and was noted to
to perform daily living skills (e.g., dressing), to
swallow, and to communicate. Difficulties with have an open brain injury. At the scene, Paul’s
attention, concentration, intellectual process- Glasgow Coma Scale (GCS) score (a quantitative
ing, and memory are also of concern. These scale to rate or rule out coma in a neurologically
impairments can cause difficulties both academ- impaired person) was a 5. He was intubated and
ically and socially when the child is interacting transported via helicopter to the nearest trauma
473
474 Trovato and Schultz
center. Computed tomography (CT) of the modified barium swallow and was cleared for
head showed an open depressed skull fracture intake of a regular diet with nectar-thickened
with hemorrhage. He emergently went to the liquids. The gastrostomy tube is currently used
operating room for craniotomy and intracranial only for liquid supplementation.
pressure (ICP) monitor placement. He required Paul was transitioned to a Level 5 school
medications to maintain an adequate blood placement. An individualized education program
pressure. Paul also required a tracheostomy and (IEP) was developed with the help of an educator
a gastrostomy tube placement during his acute from the day program, in coordination with the
care hospitalization. Magnetic resonance imag- school system. At school, he continues to receive
ing (MRI) done 1 month post injury revealed therapy services as well as outpatient physical,
extensive injury to the left occipital lobe, right occupational, and speech therapy. Even though
frontal lobe, and brainstem, as well as diffuse Paul’s injury was over 1 year ago, he continues to
axonal injury (DAI). make slow progress in all domains.
Paul was admitted to an inpatient rehabili-
tation unit 4 weeks post injury. At that time, Paul INCIDENCE OF
had spontaneous eye opening and intermittent TRAUMATIC BRAIN INJURY
eye opening to verbal stimuli. Occasional track-
ing of objects was noted as well. After 16 weeks, Each year, approximately 1.7 million Americans
Paul was inconsistently following simple com- sustain a TBI (Faul, Xu, Wald, & Coronado,
2010). Approximately 275,000 of these individ-
mands and was inconsistently answering yes/
uals are hospitalized and 52,000 die. In children
no questions with a head nod/shake. Spontane-
under 14 years of age, an estimated 511,000 sus-
ous movements of his extremities were noted, tain a TBI each year. In children 17 years of age
right greater than left. Paul was discharged from and younger, the overall rate of hospitalizations
inpatient rehabilitation 24 weeks post injury. He for TBI in the United States has been reported
required a ventilator for nighttime ventilation to be 119 per 100,000. The male-to-female
due to central sleep apnea and was also depen- ratio for TBI is approximately 1.4:1. TBI most
dent on the gastrostomy tube for all nutrition. commonly occurs in the seasons of spring and
Paul was then admitted to a day rehabilitation summer and on weekends when children and
program, where he continued to receive inten- adolescents are outside participating in sports
sive physical, occupational, and speech therapy and recreation.
services. At 28 weeks following injury, Paul con-
tinued to be in posttraumatic amnesia (PTA), CAUSES OF
but he was consistently following commands TRAUMATIC BRAIN INJURY
and was able to make choices using eye gaze
The most common causes of TBI in the general
or reaching with the right hand. Gradually over population are motor vehicle accidents, falls,
the next 6 months, he continued to make steady sports injuries (especially football, lacrosse,
gains. At time of discharge from the day pro- and hockey), recreational activities (e.g., ski-
gram, however, his cognitive functioning was ing, surfing), and assault. The most common
impaired in all areas. Ongoing impairments in precipitants of TBI change with age. In chil-
receptive and expressive language consistent dren less than 1 year of age, physical abuse is
with aphasia were noted. He was able to com- the most common cause (e.g., shaken baby syn-
municate his basic wants and needs with cues, drome). Toddlers sustain TBI most commonly
he moved all his extremities, and he was walk- as a result of falls. In young school-age children,
transportation-related injuries are common,
ing with a walker and bilateral forearm plat-
especially bicycle crashes. In older school-age
forms for 200 feet with minimal assistance. Paul
children, motor vehicle accidents and sports
required the use of bilateral ankle-foot orthoses and recreational activities are the most com-
to maintain foot position and provide stability. mon causes of TBI. During adolescence and
He was able to feed himself with supervision through the mid 20s, motor vehicle accidents
and required minimal assistance for grooming, are the most common origin (Faul et al., 2010;
bathing, and dressing skills. Paul underwent a Figure 26.1).
Traumatic Brain Injury 475
Figure 26.1. Causes of traumatic brain injury in children by age and percentage. (Source: Faul, Xu,
Wald, & Coronado, 2010).
TYPES OF BRAIN INJURIES States (Langlois, Rutland-Brown, & Wald,

2006). A concussion is a closed-head type of
Primary head injuries, which occur at the brain injury, which may occur when the head
moment of impact, include brain contusions strikes an object or when a moving object strikes
(a localized bruise of brain tissue), vascular the head. Common causes include motor vehi-
injuries causing hemorrhage or hematomas cle accidents, falls, and sports injuries. A person
(bleeding within the brain), scalp injuries, skull who sustains a concussion may or may not lose
fractures, and cranial nerve injuries. Secondary consciousness. Loss of consciousness indicates a
injuries occur typically within the first 24 hours more severe injury and warrants further medi-
after the inciting events and include 1) brain cal attention (i.e., an ED visit). Even brief con-
swelling/edema; 2) elevated ICP; 3) seizures; cussions without loss of consciousness can cause
4) electrolyte disturbances, such as changes in both short- and long-term impairments.
sodium; and 5) hydrocephalus (increased fluid Symptoms of a concussion include con-
in the brain). Severe TBI is usually associated fusion, headache, nausea, vomiting, dizziness,
with DAI, an extensive injury to the white mat- hypersensitivity to lights (photophobia) or
ter tracks of the brain that is caused by inertial sounds (phonophobia), loss of balance, blurry
forces at the moment of impact. During high- vision, double vision, and loss of memory
velocity impacts, such as motor vehicle acci- (including memories before, during, and/or
dents, acceleration or deceleration forces cause after the incident). Loss of consciousness, sei-
the brain to move about inside the skull, caus- zures, personality changes, slurred speech, and
ing DAI. Most clinical brain injuries include body/facial weakness or numbness can also
both impact and inertial components. occur. Three validated systems exist for the
rapid diagnosis of concussion: the Maddocks
CONCUSSIONS questions, the Standardized Assessment of
Concussion (SAC), and the McGill Abbreviated
The term concussion has received a significant Concussion Evaluation (McGill ACE). These
amount of media attention in the last 3–4 years, tests, which should be completed by a physi-
especially in relation to its frequency and recur- cian, are used to quickly assess the individual
rence in professional football and the associated suspected of having a concussion.
sequela of dementia reported by some players. The Maddocks questions are a qualitative
Each year, there are approximately 1.6–3.8 mil- measure used for sideline concussion assess-
lion sports-related concussions in the United ment in sports injuries. Any incorrect response
requires removal from the field for a more Jennett, 1974) and duration of PTA. The GCS
comprehensive medical evaluation (Maddocks, assesses motor response (scored from 1–6),
Dicker, & Saling, 1995). verbal response (1–5), and eye opening (1–4)
The SAC objectively documents the pres- within the first 24 hours after brain injury.
ence and severity of neurocognitive impair- After assessing each category, the scores are
ment associated with concussion. The SAC, added together, with higher scores indicating
a quantitative measure, includes measures of a milder brain injury. The lowest GCS score
orientation, immediate memory, concentration, is a 3, and the highest score is a 15. Scores of
delayed recall memory, exertional maneuvers, 8 or below indicate a severe TBI, scores 9–12
and neurologic screening (McCrea et al., 1998). indicate a moderate TBI, and scores 13–15
The McGill ACE is a hybrid containing indicate a mild TBI. A person with a score
both qualitative and quantitative components. below 8 is said to be comatose (Chung, Chen,
It includes measures of immediate memory, & Cheng, 2006).
concentration, delayed memory, orientation Duration of PTA includes the length of
(with some Maddocks questions), amnesia, time in coma and the time after coma it takes
concussion symptoms, neurologic screening, the individual to remember events and store
and exertional provocative tests (Johnston, Las- new memories. The Children’s Orientation and
sonde, & Ptito, 2001). Amnesia Test (COAT; Ewing-Cobbs, Levin,
Fletcher, Minor, & Eisenberg, 1990) is a widely
used tool to assess PTA. In mild TBI, duration
DETECTION OF of PTA is less than 1 hour. In moderate TBI,
TRAUMATIC BRAIN INJURY duration of PTA is between 1 hour and 1 day.
Most head trauma is minor and does not require In severe TBI, duration of PTA is longer than
treatment or surgical interventions. If a child 1 day (Wilson, Teasdale, Hadley, Wiedmann, &
hits his or her head and is awake, alert, conver- Lang, 1994).
sant, interactive, and otherwise asymptomatic,
close observation and monitoring at home are ACUTE TREATMENT OF
sufficient. However, if any of the following
signs or symptoms occurs, a more comprehen-
TRAUMATIC BRAIN INJURY
sive evaluation is necessary and the child should Treatment of TBI begins in the ED and con-
be taken to the ED: 1) a change in mental sta- tinues throughout any hospitalization. Initially
tus (e.g., difficulty speaking, loss of conscious- a rapid assessment of the child’s breathing abil-
ness, seizures, confusion, lethargy, irritability); ity and circulation will occur. A breathing tube
2) weakness in the arms or legs; 3) complaints may be placed in the child’s airway if needed.
of severe headaches; 4) complaints of changes Vital signs will be checked frequently. The head
in hearing or vision; or 5) nausea and projectile and spine will be examined and imaged for
vomiting. Any loss of consciousness should lead injury, and a GCS score will be assigned. The
to an ED evaluation. In the ED, a neurological films will help determine the next step. A CT
examination will be performed and a neuroim- scan of the head can show bleeding, bruising, or
aging study may be done. CT scans are used to swelling of the brain, as well as fractures of the
detect bleeding and swelling in the brain fol- skull. Blood pressure values and oxygen levels
lowing TBI. CT is commonly used in the ED will be monitored. Children with more severe
and is followed up with an MRI scan on admis- injuries may require a special monitor to be
sion, which cannot only detect bleeding and placed within the skull to monitor brain pres-
swelling but also DAI and metabolic injury (see sure. Pressures that are too high require further
Chapter 12). Depending on the results of the medical intervention and even surgery to help
physical examination and neuroimaging stud- relieve the pressure.
ies, the child may be discharged to home with Throughout a child’s hospital course, the
close observation and follow-up, or admitted to goal of treatment is to prevent or limit sec-
the hospital for further care. ondary brain damage. This may be achieved
through ventilator management, medications
SEVERITY OF to control swelling of the brain, and/or sur-
gery (Huh & Raghupathi, 2009; Walker et al.,
TRAUMATIC BRAIN INJURY
2009). An MRI may be obtained once the child
There are two major ways to determine is stabilized to provide further information on
the severity of TBI: the GCS (Teasdale & the extent of brain damage.
Seizures may occur after a TBI. If they REHABILITATION OF CHILDREN

occur within the first 24 hours, they are called WITH TRAUMATIC BRAIN INJURY
immediate posttraumatic seizures; seizures
within the first week are called early posttrau- Once a child is felt to be medically stable and
matic seizures; and seizures anytime after the ready for the next level of care, he or she may
first week are called late posttraumatic seizures. be transitioned to a rehabilitation hospital for
Children ages 7 and younger have a greater intensive inpatient therapy or may participate
frequency of early seizures than do older chil- in outpatient therapy services, depending on
dren and adults. Older children and adults have the severity of the injury and impairments. A
a greater frequency of late posttraumatic sei- rehabilitation facility should have the following
zures (Asikainen, Kaste, & Sarna, 1999; Statler, components of care: 1) expertise in rehabilita-
2006). Risk factors for late seizures include skull tion of children, 2) developmentally appropri-
fractures and bleeding in the brain (Annegers, ate treatments, 3) family-centered care, and
Hauser, Coan, & Rocca, 1998; Asikainen et al., 4) attention to the child’s education and rein-
1999). Antiepileptic drugs may be used for the tegration into the school system. Many reha-
first week after injury to prevent posttraumatic bilitation hospitals are accredited through the
seizures (Temkin et al., 1990). Commission on Accreditation of Rehabilitation
In the acute care hospital, efforts will be Facilities (CARF). CARF sets standards of care
made to prevent the complications of “bed for the facilities and also has specialty accredi-
rest.” These problems may include decreased tations for brain injury programs and pediatric
muscle mass and strength, bone loss, skin break- specialty programs.
down, loss of range of motion at joints (contrac- As the child recovers from TBI, functional
tures), and weight loss. Contractures and skin impairments may become apparent in the follow-
breakdown may be prevented by appropriate ing domains: motor, sensory, communication,
positioning and frequent repositioning. Passive cognition, and behavior (Savage, DePompei,
range of motion should be undertaken once Tyler, & Lash, 2005). Rehabilitation strives to 1)
the child is medically stable. Nutrition plays prevent complications that are caused by immo-
an important role following TBI because of bilization and disuse, 2) increase the use of abili-
increased daily calorie and protein needs dur- ties regained, 3) teach strategies to compensate
ing the healing process (Pepe & Barba, 1999). for impaired or lost function, and 4) alleviate
The child may require an alternative means of the effect of chronic disability on the process of
nutrition, such as a nasogastric tube, to receive growth and development (Cope, 1995).
calories, liquids, and medication. Gastroesoph-
ageal reflux and decreased rate of stomach Motor Impairments
emptying may also be a problem. Urinary and Family members will frequently ask about
bowel incontinence is common after moderate motor recovery and functional prognosis fol-
to severe brain injury, but there may also be uri- lowing TBI. Studies have shown that motor
nary retention and constipation, which should weakness tends to improve over time and that
be treated with medication. functional outcomes are good. Approximately
The autonomic nervous system con- 85% of children with a history of coma for
trols automatic body activity, such as breath- a minimum of 1 week will regain indepen-
ing, heart rate, blood pressure, temperature dence with ambulation and self-care between
control, sweating, and so forth. Paroxysmal 1–7 years after TBI (Brink, Garrett, Hale,
autonomic instability with extensor posturing Nickel, & Woo-Sam, 1970). Of children who
or dystonia (both terms refer to atypical posi- are in coma for more than 24 hours, 10% are
tioning of limbs) may occur following severe found to be physically normal at 1 year, and
brain injury. Symptoms can include agitation, approximately 75% regain physical indepen-
sweating, increased temperature, hypertension, dence (Brink, Imbus, & Woo-Sam, 1980). Per-
tachycardia (rapid heart rate), and tachypnea sistent impairments may be noted in strength,
(rapid breathing). Autonomic instability can balance, speed, and coordination (Beretta et al.,
persist for weeks to months following injury. 2009; Katz-Leurer, Rotem, Lewitus, Keren, &
It is caused by dysfunction of the thalamus or Meyer, 2008). Hand function reveals decreased
hypothalamus (or their connections within the fine motor skills, speed, and coordination
brain) and is treated with medication (Black- (Kuhtz-Buschbeck et al., 2003). Prognosis of
man, Patrick, Buck, & Rust, Jr., 2004). motor recovery is related to duration of coma.
Significant motor recovery may occur in chil- inner (sensorineural) ear due to skull base frac-
dren who are comatose for less than 3 months tures or damage to the central neuronal path-
(Brink et al., 1970; Brink et al., 1980). ways. Sensorineural loss is more pronounced
Motor recovery is also affected by motor at the higher hearing frequencies (Lew, Jerger,
impairments related to movement patterns and Guillory, & Henry, 2007; Munjal, Panda, &
tone, such as spasticity, dystonia, and ataxia or Pathak, 2010). Audiologic evaluation is recom-
tremor. Medications and/or surgery may be mended following TBI. Brainstem auditory
used as treatment of these impairments. Tremor evoked responses (BAER) can be used for test-
may be treated with propranolol (Inderol) or ing children who are unable to participate in
carbidopa/levodopa (Sinemet). Medications to traditional behavioral audiometric testing (Lew
treat spasticity and dystonia include baclofen et al., 2004; see Chapter 10).
(Lioresel), dantrolene (Dantrium), diazepam
(Valium), trihexiphenadyl (Artane), and tizani- Feeding Disorders
dine (Zanaflex). Baclofen may be given orally Dysphagia (difficulty in swallowing) can be
or directly into the spinal fluid with an intrathe- caused by TBI. Dysphagia affects oral nutri-
cal baclofen pump (Albright & Ferson, 2006). tion and hydration. It can also have a nega-
There is, as of 2012, no medicine or surgery tive impact on the child’s ability to protect the
that is effective for ataxia. airway, leading to increased risk of aspiration
Management of spasticity may also involve pneumonia (see Chapter 9). The incidence of
localized neuromuscular blockade with botu- dysphagia following TBI overall is low; how-
linum toxins or nerve blocks, such as phenol ever, it increases markedly with increasing
injections. The effects of botulinum toxins last severity of the TBI. The incidence of acute
several months, but repeated injections may dysphagia associated with severe TBI is 68%–
be required (Bjornson et al., 2007; Meholjic- 76% (Morgan, 2010; Morgan, Mageandran,
Fetahovic, 2007). Injections should be followed & Mei, 2010). Associated impairments include
by physical or occupational therapy services to atypical tongue movements, poor jaw stability,
obtain the desired results. Orthopedic surgery inefficient chewing, impaired lip closure, and
may be necessary for treatment of contractures reduced attention and impulsivity during feed-
or bony orthopedic deformities. Surgeries may ing. Signs of aspiration can include coughing
include tendon lengthening, femoral osteoto- after a swallow, wet voice after swallowing, and
mies (reconfiguring the femur to treat hip spas- delayed swallow initiation. Motor impairment
ticity), or spinal fusion for scoliosis. is significantly associated with dysphagia (Mor-
gan et al., 2010). A child with dysphagia may
Sensory Impairments require a feeding tube to provide nutrition and
Both vision and hearing may be affected fol- hydration. The tube may be a temporary mea-
lowing TBI. Visual impairments may be due to sure, such as a nasogastric tube, or a long-term
injury of the optic nerves, impaired visual pro- option, such as a percutaneous (placed through
cessing in the brain, or limitation of eye move- the skin without opening the abdomen) endo-
ments resulting from cranial nerve damage. scopic gastrostomy (PEG) tube. Children with
Double vision is common following TBI because a PEG tube will receive a standard concentra-
of cranial nerve injury. Other impairments may tion enteral formula to attain maximum nutri-
include nystagmus (shaking eye movements tion with minimum volume (Cook, Peppard, &
caused by cerebellar damage), decreased visual Magnuson, 2008).
acuity, difficulty with tracking, and visual field
cuts. Traumatic injury to the optic nerve is not Communication Skills Impairments
reversible and can cause blindness (Bodack, Dysarthria is a dysfunction in the motor con-
2010; Cockerman, et al., 2009). Injury to the trol of the muscles used for speech. It affects
occipital lobes, leading to visual cortex damage, articulation and intelligibility. The incidence
can cause cortical blindness (ability to see but reported ranges from 2% to 60% in children
not process visual information; see Chapter 11). with TBI (Cahill, 2005; Morgan et al., 2010).
Vision testing is recommended for evaluation of Language impairments may be expressive or
the above impairments. receptive (involving auditory perceptual prob-
Sensorineural hearing loss or conduc- lems). Motor impairment and dysphagia are
tive hearing loss can occur following TBI and significantly associated with dysarthria (Mor-
is generally unilateral. Hearing loss may be a gan et al., 2010). The more complex features
result of trauma to the middle (conductive) and of language processing are affected by cognitive
deficits involving difficulty with judgment Recovery from Mild

related to topic management, turn taking, and Traumatic Brain Injury
pause time (Fyrberg, Marchioni, & Emanu-
elson, 2007). Individuals with TBI are less Mild TBI is relatively common, and most of the
appropriate in their use of language and style children seen in the ED for TBI are released
of speech and have difficulty initiating and sus- rather than hospitalized. Seventy-five percent
taining a conversation (Dahlberg et al., 2007). of TBIs that occur each year are concussions
Social isolation may result from these commu- or other forms of mild TBI (Faul et al., 2010).
nication impairments. Recovery from mild TBI is generally complete;
however, some children may continue to have
Cognitive Impairments symptoms consistent with a postconcussive
syndrome. These symptoms include headache,
Cognitive impairments are common follow- fatigue, difficulties with memory and concen-
ing TBI. Areas affected may include attention, tration, dizziness, confusion, anxiety, and vision
memory, executive function (planning, initiat- issues (Konrad et al., 2010; Sroufe et al., 2010).
ing, problem solving), and speed of process- The length of time that these postconcussive
ing (Dikmen et al., 2009). Long-term outcome symptoms last is variable. Typically, symptoms
is correlated with injury severity. The more decrease within the first week, but they may con-
severe the injury sustained, the worse the out- tinue for months to years (Barlow et al., 2010;
come across all cognitive domains. Environ- Keenan & Bratton, 2006; Sroufe et al., 2010).
mental factors unrelated to the injury also have
an impact on outcome. These factors include
parental occupation, preinjury adaptive abilities, Outcome of Moderate to
age of injury, and preinjury behavior (Anderson, Severe Traumatic Brain Injury
Morse, Catroppa, Haritou, & Rosenfeld, 2004).
Preschool children with severe TBI dem- The outcomes for children who have sustained
onstrate slower recovery with poorer cognitive moderate to severe TBI are variable. The more
outcome up to 5 years after injury compared severe the injury (as documented by lower initial
with children less severely injured (Anderson et GCS scores), the longer the duration of intensive
al., 2009; Ylvisaker & Feeney, 2007). Children care unit (ICU) stay; the longer the hospital stay,
who are younger at the time of injury may not the more likely is a child to have lasting impair-
show the full extent of their cognitive impairments (Anderson & Catroppa, 2006; Campbell,
ments until they reach school age, when the Kuehn, Richards, Ventureyra, & Hutchison,
task complexity increases (Anderson & Cat- 2004). Areas typically affected include receptive
roppa, 2005; Meekes, Jennekens-Schinkel, & language, working memory, executive function,
van Schooneveld, 2006). and speed of processing (Anderson & Catroppa,
Cognitive impairments are identified 2006; Anderson et al., 2004; Campbell et al.,
through evaluation by a neuropsychologist 2004). Even with these impairments, a child’s
using items that measure intelligence as well as preinjury academic skills and global intelligence
subtle impairments in cognition. The assess- may remain intact; it is new learning that is
ment is typically performed in a quiet setting impaired (Ylvisaker et al., 2001).
with minimal distractions. It involves a set of Following severe TBI, recovery is sig-
standardized measures to assess concept for- nificant over the course of the first year, with
mation, reasoning, problem solving, language, slowing over the next year (Taylor et al., 1999).
memory, attention, visuospatial skills, and aca- Recovery is influenced not only by severity
demic performance. The results of this testing of injury but also by family factors, including
can be used during the rehabilitation stay, and socioeconomic status, resources, and support
to direct educational placement and accom- systems (Anderson & Catroppa, 2006; Keenan
modations as necessary (Ylvisaker et al., 2001). & Bratton, 2006). Recovery and outcome are
Additional testing may be recommended as the also affected by age at the time of injury. For
child reintegrates into the school and com- many years it was felt that the younger the age
munity, including parent and teacher behavior of injury, the better the outcome, due to the
scales and educational testing. As the child ages plasticity of the brain. However, it has been
and demands are increased, cognitive impair- shown more recently that children who sustain
ments may become more apparent and warrant a brain injury at an earlier age are at increased
repeat testing and monitoring. risk for lasting impairments across all areas
(Anderson et al., 2009). Stage of development at postinjury performance. If a student qualifies,

the time of injury has an impact on outcome. A an IEP will be created by a team of individuals
child may return to the previous developmen- including the parents and representatives from
tal level following injury but may have trouble the school or school district (see Chapter 31).
progressing past that stage (Giza, Kolb, Harris, The IEP will outline modifications needed
Asarnow, & Prins, 2009). This difficulty with for the student to be successful in the school
progressing into new developmental levels or environment. Examples include therapy ser-
attaining new developmental milestones has vices provided by the school system, a range
been described as a neurocognitive stall (Chap- of classroom settings from self-contained to
man, 2007). This may be noted in all age groups assistance in the classroom, focused instruc-
and is typically a slowing or lack of further pro- tion, organizational support, and increased
gression in the intellectual, motor, and social time or strategies to address impairments in
development of the child 1 year after injury. attention, organization, or memory. If a child
does not qualify for an IEP because he or she
Rehabilitation is academically at or near grade level, the child
The primary goals of rehabilitation for all may qualify to receive support and accommo-
impairments related to TBI include promotion dations with a Section 504 plan (Rehabilitation
of recovery, compensation for impairments, and Act of 1973, PL 93-112).
identification and treatment of cognitive and Obtaining an IEP or a Section 504 plan
behavioral issues. Following TBI, the medical is an important aspect of school reintegra-
team or primary care provider helps determine tion. Without a plan in place, educators may
the level of care needed. A multidisciplinary not recognize the impairments and needs of
intervention including physical therapy (PT), the student. During their training, teachers
occupational therapy (OT), speech therapy, are rarely exposed to children with TBI; due
neuropsychology, special education, and social to their lack of knowledge of the long-term
work may be necessary, depending on the sever- sequelae of TBI, they may underestimate its
ity of the injury and impairments. effects on learning, memory, and behavior
(Glang et al., 2008; Hawley et al., 2004; Ylvi-
School Reentry saker et al., 2001). An IEP or Section 504 plan
allows for communication across all school
One of the main goals following rehabilitation
settings regarding the injury and the impair-
is school and community reintegration. Sustain-
ments (Hawley et al., 2004). Children with
ing a TBI places a child at risk for the presence
TBI who receive transition support from the
of long-term academic difficulties, especially
hospital are more likely to have an IEP or Sec-
following moderate to severe TBI. Reading and
tion 504 plan in place. Planning for school
math abilities may be compromised as well as
reentry, transition support, and education of
attention, concentration, and memory (Cat-
school staff, as well as long-term monitoring,
roppa et al., 2009; Hawley, Ward, Magnay, &
are all important for successful reintegration
Mychalkiw, 2004). Educational testing as well
and school placement.
as neuropsychological testing should be com-
pleted to obtain a comprehensive view of the
child’s impairments (see Chapter 16). Children Behavioral and Social Impairments
injured at a younger age may not demonstrate Following TBI, changes may be noted in a
the full effects of the injury until later, when child’s behavioral, emotional, and social inter-
demands and expectations are increased. Long- actions. These changes may include adjustment
term follow-up studies of school-age children difficulties, psychiatric disorders (including
with TBI reveal impairments that persist or depression and anxiety), disinhibition, impul-
worsen as the children progress through school sivity, poor safety awareness, social withdrawal,
(Glang et al., 2008). and inappropriate social behavior (Anderson &
TBI is a special education eligibility cat- Catroppa, 2006; Ylvisaker et al., 2005). Man-
egory under the Individuals with Disabili- agement may include medications, counseling,
ties Education Improvement Act (IDEA) of and/or behavioral reinforcement, all of which
2004 (PL 108-446). Eligibility in most states are tailored to the child’s needs (Anderson &
requires medical documentation of a TBI, Catroppa, 2006; Bates, 2006; Riggio & Wong,
and physical and intellectual assessments 2009; Ylvisaker et al., 2005). Behavioral issues
must show a difference between preinjury and and social withdrawal can lead to tension within
the family; social isolation not only affects the up to 2 years of age, 2) forward-facing car safety
child but can lead to isolation of the entire fam- seats for most children through 4 years of age,
ily (Kapapa et al., 2010). 3) belt-positioning booster seats for most chil-
Caregivers of children with a severe TBI dren through 8 years of age, and 4) lap-and-
are also under greater stress and are at higher shoulder seat belts for all children who have
risk for psychological symptoms (Aitken et al., outgrown booster seats. Children under the age
2005; Gan & Schuller, 2002). Preinjury behav- of 13 years should ride in the rear seats of vehi-
ioral and family functioning is also correlated cles. Child safety seats decrease the risk of non-
to postinjury function (Anderson et al., 2001). fatal injury by approximately 75% (Zaloshnja,
Coping strategies used by families may include Miller, & Hendrie, 2007) and the risk of fatal
denial and disengagement (Stancin, Wade, injury by 28% (Elliott, Kallan, Durbin, & Win-
Walz, Yeates, & Taylor, 2008). Parents and sib- ston, 2006). Booster seats decrease the risk of
lings may feel guilt and remorse after the injury. nonfatal injury among 4- to 8-year-old children
Fathers are more likely to use denial, whereas by 45% compared with seat belts (Arbogast,
mothers are more likely to use acceptance and Jermakian, Kallan, & Durbin, 2009). The AAP
emotionally focused strategies. These differ- also recommends that children should not ride
ent coping styles may further exacerbate family in the flatbeds of pickup trucks; nor is it recom-
dysfunction (Wade et al., 2010; see Chapter 37). mended for children or teenagers younger than
Prolonged hospitalization may place a finan- 16 years to ride an all-terrain vehicle (ATV) or
cial burden on the family and affect the overall a lawn mower.
finances and dynamics of the family as well. In school-age children, pedestrian inju-
Family support is important in all phases ries typically occur while the child is crossing
following a TBI, including acute hospitaliza- the road. Strategies that have been utilized to
tion, rehabilitation, and school reintegration. improve street-crossing skills include group
Social workers, psychologists, educators, and education and individualized behavior train-
other health professionals may work with the ing. Individualized training appears to be more
family to assist with resources, family coping successful than group training (Schwebel &
and adjustment, discharge planning, and school McClure, 2010). Programs developed to help
reentry. Ongoing support groups in the com- teach pedestrian safety included the WalkSafe
munity may be recommended and utilized (Ait- program. This program has been shown to
ken et al., 2005). improve pedestrian safety knowledge of school-
age children after receiving a 3-day educational
Prevention experience (Hotz et al., 2009). The Safe Kids
Many types of unintentional injuries are pre- organization was established in 1987 at Chil-
ventable (Schnitzer, 2006). The leading causes dren’s National Medical Center in Washington,
of nonfatal injuries are falls, poisoning, burns, D.C. Its goals are to change attitudes, behav-
and motor vehicle, bicycle, and pedestrian acci- iors, laws, and the environment to prevent
dents (Centers for Disease Control and Preven- injury to children (http://www.safekids.org).
tion, 2011). Falls are more common in younger Children ages 5–14 years have the high-
children, bicycle and pedestrian collisions in est rate of bicycle-related injuries. Head injury
elementary and middle school-age children, and accounts for 62% of bicycle-related deaths,
motor vehicle collisions in adolescents (Men- 33% of bicycle-related ED visits, and 67% of all
delson & Fallat, 2007). The use of window bicycle-related hospital admissions (Centers for
guards, the use of gates at stairways, and refrain- Disease Control and Prevention, 1995). Bicycle
ing from using infant walkers are three strate- helmets are effective in decreasing head, brain,
gies for the prevention of falls (Schnitzer, 2006). and facial injuries when used properly. The risk
The appropriate use of car seats, boosters, and of TBI is reduced by 60% when wearing a bicy-
seat belts has been shown to reduce brain injury cle helmet (Attewell, Glase, & McFadden, 2001;
in children following a motor vehicle accident Lee, Schofer, & Koppelman, 2005; Thompson
(Keenan & Bratton, 2006). The American Acad- et al., 1999). Helmets and protective gear are
emy of Pediatrics (AAP) released a policy state- also recommended for skating, skateboarding,
ment on child passenger safety in 2011 (Durbin skiing, snowboarding, scooter riding, horse-
& Committee on Injury, Violence, and Poison back riding, motorcycle riding, and participation
Prevention, 2011). The statement provides in contact sports such as football, hockey, and
recommendations for best practices, including lacrosse (Dellinger & Kresnow, 2010; Jagodzin-
1) rear-facing car safety seats for most infants ski & DeMuri, 2005; Schnitzer, 2006 ).
Motor vehicle collisions are the lead- Anderson, V., Catroppa, C., Morse, S., Haritou, F., &
ing cause of injuries in teenagers. Prevention Rosenfeld, J.V. (2009). Intellectual outcome from
preschool traumatic brain injury: A 5-year prospec-
strategies include limiting nighttime driving, tive, longitudinal study. Pediatrics, 124(6), e1064–
limiting driving with teenage passengers, and e1071.
developing graduated licensing measures (Wil- Anderson, V.A., Morse, S.A., Catroppa, C., Haritou,
liams & Ferguson, 2002). As in younger chil- F., & Rosenfeld, J.V. (2004). Thirty month out-
come from early childhood head injury: A prospec-
dren, appropriate use of seat belts is important.
tive analysis of neurobehavioural recovery. Brain,
Prevention should be addressed at well- 127(12), 2608–2620.
child visits through parent-focused strategies Anderson, V., Spencer-Smith, M., Leventer, R., Cole-
and through education to teachers and commu- man, L., Anderson, P., Williams, J., … Jacobs, R.
nity groups as well as the children themselves. (2009). Childhood brain insult: Can age at insult help
us predict outcome? Brain, 132, 45–56.
The focus should be on the appropriate use of Annegers, J.F., Hauser, W.A., Coan, S.P., & Rocca,
seat belts, safe pedestrian behavior, helmet use, W.A. (1998). A population-based study of seizures
prevention of falls, and sports injury prevention. after traumatic brain injuries. The New England Jour-
nal of Medicine, 338, 20–24.
Arbogast, K.B., Jermakian, J.S., Kallan, M.J., &
SUMMARY Durbin, D.R. (2009). Effectiveness of belt position-
ing booster seats: An updated assessment. Pediatrics,
Traumatic brain injury is a significant risk dur- 124(5), 1281–1286.
ing childhood. There is a wide range of sever- Asikainen, I., Kaste, M., & Sarna, S. (1999). Early
ity of injury, and the outcome may range from and late posttraumatic seizures in traumatic brain
injury rehabilitation patients: Brain injury factors
complete recovery to severe functional and causing late seizures and influence of seizures on
intellectual disability. Persistent functional long-term outcome. Epilepsia Journal, 40(5), 584–
impairments may involve several areas, includ- 589.
ing motor, sensory, feeding, communication, Attewell, R.G., Glase, K., & McFadden, M. (2001).
Bicycle helmet efficacy: A meta-analysis. Accident
cognition, and behavior. Restoration and adap-
Analysis and Prevention, 33, 345–352.
tation are the goals of rehabilitation and require Barlow, K.M., Crawford, S., Stevenson, A., Sandhu,
a multidisciplinary team including medical pro- S.S., Belanger, F., & Dewey, D. (2010). Epidemiol-
fessionals, allied health professionals, and edu- ogy of postconcussion syndrome in pediatric mild
cation specialists. Children should be followed traumatic brain injury. Pediatrics, 126(2), e374–
e381.
throughout their education to provide support Bates, G. (2006). Medication in the treatment of the
and accommodations as needed. Most brain behavioural sequelae of traumatic brain injury.
injuries are preventable. Therefore, brain injury Developmental Medicine and Child Neurology, 48,
prevention programs are needed and legislation 697–701.
Beretta, E., Cimolin, V., Piccinini, L., Carla Tur-
must be written and enforced to decrease the
coni, A., Galbiati, S., Crivelleni, M., … Strazzer,
risk and long-term consequences of TBI. S. (2009). Assessment of gait recovery in children
after traumatic brain injury. Brain Injury, 23(9),
751–759.
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27 Epilepsy
Tesfaye Getaneh Zelleke,
Dewi Frances T. Depositario-Cabacar,
and William Davis Gaillard

■ Be familiar with the signs and symptoms that define epilepsy
■ Understand the epidemiology and causes of epilepsy
■ Understand the basic classification of epilepsy
■ Be familiar with some common epilepsy syndromes
■ Be knowledgeable about the evaluation and treatment of epilepsy
■ Be aware of antiepileptic medications and their side effects
Seizures, also referred to as “fits” or “convul- 6 months to 6 years), an overdose of certain

sions,” are transient disturbances of brain func- medications (e.g., insulin), meningitis, or a fall in
tion resulting from abnormal excessive excitation which the child hits his or her head can lead to
of cortical neurons. They are seen frequently a seizure (Huang, Chang, & Wang, 1998). Most
in childhood. As many as 1 in 10 children will seizures are either solitary events (e.g., a single
experience at least one seizure before adulthood seizure following minor head trauma) or limited
(Hauser, 1994). The clinical signs and symptoms to a specific and narrow developmental window
of a seizure vary depending on the location of (e.g., febrile convulsions).
the epileptic discharge in the cerebral cortex The diagnosis of epilepsy requires two
and the extent of spread of the discharge within unprovoked seizures that occur at least 24
the brain. Seizures can cause changes in motor hours apart. The prevalence of epilepsy in the
movement (e.g., tonic or clonic movements), general pediatric population is 4–10 per 1,000
sensation (e.g., a tingling sensation), bodily func- (Berg, 1995). It has variable severity; the child
tions (e.g., incontinence), attention (e.g., loss may experience anywhere from two or three
of attention), and awareness and behavior (e.g., seizures to hundreds over a lifetime. Epilepsy
loss of consciousness and/or presence of unusual may have a clear origin (e.g., resulting from a
behaviors such as stereotypic actions). Seizures malformation of cortical development or a peri-
can be provoked by an infection (e.g., meningitis, natal stroke) or it may not have an identifiable
encephalitis), metabolic disturbance (e.g., hypo- cause (called idiopathic).
glycemia), toxic agent (e.g., pesticides), trauma, Children with developmental disabilities
or other acute illness. A fever (in children ages are at a significantly increased risk for epilepsy
487
488 Zelleke, Depositario-Cabacar, and Gaillard
(Sunder, 1997). It is 5 times more common in well for 2 years without any seizures and the plan
individuals with cerebral palsy than in typi- is to now discontinue her medication.
cally developing children (Hundozi-Hysenaj &
Boshnjaku-Dallku, 2008). With intellectual dis-
ability the risk of developing epilepsy through EPILEPSY:
the lifespan is 15%–20% (Besag, 2002; Fors- DEFINITIONS AND CLASSIFICATION
gren, Edvinsson, Blomquist, Heijbel, & Siden- Epilepsy, derived from the Greek word meaning
vall, 1990). In addition, if a child has comorbid “take hold of” or “seize” (Reynolds, 2000), is a
conditions the risk for epilepsy is increased fur- neurologic condition in which a person experi-
ther. For example, autism spectrum disorders ences recurrent unprovoked seizures (Hauser,
(ASD) are associated with a 2% risk of mani- Rich, Lee, Annegers, & Anderson, 1998). For
festing epilepsy by 5 years of age and an 8% risk the majority of children, epilepsy resolves after
by 10 years (Tuchman & Rapin, 2002); how- several years. Thirty percent of children with
ever, this risk increases to 35% at 5 years and epilepsy, however, will have an incomplete
67% by 10 years if the child has intellectual dis- response to medications, and approximately
ability associated with the ASD. In general, the 5%–10% will have intractable epilepsy (sei-
more severe the cerebral pathology, the higher zures that are frequent despite multiple seizure
the risk of epilepsy (Holmes, 2002). medications; Hauser, 2006).
The control of epilepsy in children with A seizure results from an excessive dis-
developmental disabilities tends to be harder charge of a large population of cortical neurons.
to achieve, and medically refractory epilepsy This usually occurs when the excitatory inputs of
(> 3 seizures/year despite treatment with three neurons outweighs the inhibitory components.
standard antiepileptic drugs [AEDs]) is more Excessive neuronal firing continues until either
common (Airaksinen et al., 2000; Alvarez, Besag, excitatory neurotransmission is exhausted or the
& Iivanainen, 1998). Furthermore, both epilepsy inhibitory networks extinguish it. The seizure
and AEDs may contribute to learning difficul- usually stops in seconds to minutes, but it may
ties and to disruptive behavior. Children with occasionally persist, requiring acute medical
epilepsy exhibit a higher incidence of cognitive intervention. When a seizure lasts more than 30
impairments, attention-deficit/hyperactivity dis- minutes, it is termed status epilepticus. The clini-
order, anxiety disorders, and depression. cal signs and symptoms of the seizure will vary
depending on the location of the epileptic dis-
■ ■ ■ PATRICIA charge in the cerebral cortex and the extent of
Patricia is a 7-year-old girl who has been referred spread of the discharge in the brain.
to the neurology clinic because of spells. She has Not everyone will have a seizure if pre-
been reported by her teachers at school to have sented with the same brain insult because
staring spells and was thought to have difficul- structural and chemical brain interactions are
ties with attention. Her teacher has noticed that
modified by genetic and acquired factors (Bri-
ellmann, Jackson, Torn-Broers, & Berkovic,
she sometimes submits a written test with unfin-
2001; Frucht, Quigg, Schwaner, & Fountain,
ished answers. There are also occasions when 2000). Several factors modulate a predisposi-
Patricia feels that she has missed a conversation for seizures and the threshold at which they
tion and is often teased by her classmates. Her occur. For example, the age of the child and
grades have also gone down. At the neurology stage of brain development appear to affect the
clinic office, the pediatric neurologist had her seizure threshold (Moshé, 2000). Some epilep-
hyperventilate, during which a typical spell was sies are predominantly seen during particular
elicited. To confirm the clinical impression and age windows, including infantile spasms (4–16
establish a diagnosis, a sleep-deprived electro- months), childhood absence epilepsy (4–12
encephalogram (EEG) was done, which showed years), benign rolandic epilepsy (6–14 years),
a generalized 3 Hz spike and wave pattern char-
and juvenile myoclonic epilepsy (8–26 years).
The brain undergoes global and regional struc-
acteristic of absence seizures. She was started
tural changes over time that involve changes in
on ethosuximide, and although she improved, cortical thickness and myelination (Gage, 2002)
she continued to have some spells. Her medica- as well as changes in brain chemistry and meta-
tion dose was further increased, and she became bolic rates. Changes in normal brain develop-
asymptomatic. A follow-up EEG was normal. Her ment, structure, or chemistry can predispose
grades have also improved. She has been doing the child to epilepsy (Lowenstein & Alldredge,
Epilepsy 489
1998). Repair mechanisms following some term symptomatic is used when there is a clear
brain insults can also lead to the formation of structural brain abnormality (e.g., tuberous
abnormal neuronal networks that generate sei- sclerosis), an acquired cause of epilepsy (e.g.,
zure activity (Cole, 2000). Brain maturation stroke, tumors, meningitis), or an associated
may explain why some children appear to grow neurological impairment (e.g., intellectual
into or out of epilepsy (Sillanpää, 2000). disability, cerebral palsy). Idiopathic epilep-
Seizures are disorders of neuronal trans- sies are assumed to be genetic in origin and
mission and brain network interactions. Fac- comprise about 30% of childhood epilepsies
tors that predispose a child to having seizures (Hauser & Kurland, 1993). In this form of
include 1) injury to brain cells that make them epilepsy there are no abnormal neurological
dysfunctional (e.g., traumatic brain injury, or neuroimaging findings, and there may be a
stroke, and brain tumors), 2) disruption of brain family history of seizures. The term cryptogenic
cell circuits (e.g., tuberous sclerosis and malfor- has been used for epilepsies where a cause can-
mations of cortical development), and 3) altera- not be identified. More recently this classifica-
tions in intrinsic brain cell excitability (e.g., tion system has been proposed to be amended
inherited epilepsies such as severe myoclonic to 1) genetic (replaces idiopathic), when the
epilepsy and autosomal dominant nocturnal epilepsy is secondary to a presumed genetic
frontal lobe epilepsy). defect (e.g., SCN1A mutation in Dravet syn-
The clinical signs and symptoms of sei- drome); 2) structural (either acquired [e.g.,
zures usually reflect the function of the areas brain tumors, stroke], or congenital central
from which they arise. In the 1989 classification nervous system malformations) or metabolic;
scheme (Commission on Classification and Ter- and 3) unknown cause (replaces cryptogenic),
minology of the International League Against when the underlying cause is not identified
Epilepsy, 1989), seizures are divided into par- (Berg et al., 2010).
tial (i.e., focal or localized) and generalized, Children with a first seizure of remote
depending on the origin and degree of spread symptomatic etiology (i.e., a seizure that is
of the seizure activity. Partial seizures are fur- removed in time following a brain insult)
ther divided into simple and complex, depend- tend to have a higher rate of seizure recur-
ing on whether consciousness is affected. In rence: approximately 65% (Berg & Shinnar,
simple partial seizures there may be 1) a strange 1991; Shinnar et al., 1996). Among those with
sensation called an aura (e.g., an epigastric sen- a remote symptomatic etiology, children with
sation arising from the mesial temporal lobe), static brain dysfunction since birth, such as
2) unusual motor activity (e.g., a jerking of the intellectual disability or cerebral palsy, tend to
hands, originating from the primary motor cor- have the highest rates of seizure recurrence. In
tex of the frontal lobe), or 3) atypical dystonia- contrast to children with a remote symptom-
like posture (resulting from spread of the seizure atic etiology, children with a first seizure of
through the basal ganglia). In complex partial idiopathic or cryptogenic etiology tend to have
seizures there is propagation to brain structures lower rates of additional seizures, with approxi-
that alter the state of consciousness (e.g., the mately a 35% chance of recurrence (Berg &
limbic system). As a result, there may be staring, Shinnar, 1991; Shinnar et al., 1996).
oral automatisms (lip smacking), or fumbling The causes of epilepsy vary with age. Mal-
with hands and clothing. When multiple parts formations of cortical development, perinatal
of the brain are involved or there is spread of brain injury, and metabolic disorders are com-
the electrical discharge to both cerebral hemi- mon causes of epilepsy in infancy; genetic and
spheres, generalized tonic-clonic activity may congenital disorders are found in early and later
result. In the new classification scheme (Berg et childhood; and hippocampal sclerosis, alcohol
al., 2010), seizures are described as generalized or drug abuse, and trauma may be present in
or focal, with or without loss of consciousness older children and adolescents (Shorvon, 2000).
(replacing simple, complex, secondarily gener-
alized, and primary generalized). Classification of Epilepsy
The International League Against Epi-
and Epilepsy Syndromes
lepsy (ILAE) has divided epilepsies into three
categories: focal epilepsy, generalized epilepsy, The diagnosis, treatment, and prognosis of sei-
and epilepsy syndromes. Epilepsy may also zure disorders depend on both the correct iden-
be divided into idiopathic, symptomatic, and tification of the type of seizures and its epilepsy
cryptogenic (Commission on Classification classification. Childhood epilepsies are classi-
and Terminology of the ILAE, 1989). The fied using variations of the ILAE classification
system (Commission on Classification and Ter- and atonic seizures. These seizures have simul-
minology of the ILAE, 1989). taneous bilateral onset in the brain. During gen-
As mentioned above, the ILAE classifies eralized seizures, the child may have decreased
epilepsy into two major classes: generalized nonconvulsive motor activity (e.g., the arrest of
(seizures coming from both cerebral hemi- activity and automatisms seen in absence sei-
spheres simultaneously) and partial (starting in zures) or bilateral synchronous abnormal motor
a focal area of the cerebrum), as well as a class activity (e.g., myoclonic, tonic, tonic-clonic sei-
of syndromes (see Table 27.1). Epilepsy syn- zures).
dromes (and recently added constellations) are Absence seizures, as described in the case of
classified based on the clinical appearance of the Patricia, are also referred to as “petit mal” and
seizures, the EEG, and the age of onset. A modi- are characterized by brief episodes of impaired
fied classification system has been developed for consciousness, usually lasting less than 30 sec-
some seizures (e.g., neonatal seizures, infantile onds, without postictal (immediately follow-
seizures, status epilepticus, epilepsy surgery). ing the seizure episode) confusion (Table 27.2).
Another proposed classification system is the These seizures may occur numerous times dur-
5-axis diagnostic scheme, which divides seizures ing the day and can affect the child’s learning
into 1) descriptive ictal terminology, 2) seizure ability by interrupting attention and vigilance.
type, 3) syndrome, 4) etiology, and 5) impair- Absence seizures are mediated through the
ment (Engel, 2001). Several task forces have thalamus, and onset is usually between 3 and
considered providing for alternative classifica- 12 years of age. The classic EEG pattern of
tion schemes, and this will likely be an ongo- absence seizures shows a 3 Hz spike and wave
ing dynamic process (Berg et al., 2010; Engel, pattern, which can be precipitated by hyper-
2006). ventilation or photic (flickering light) stimula-
Occasionally, there is difficulty in classify- tion (Figure 27.1). Sometimes the child may
ing epilepsy because 1) the seizure onset is not continue to perform a simple automatic activity
observed, 2) the focal signs may not be apparent such as walking during the seizure but is unable
because of the rapid spread of the seizure, or to continue a novel task such as reading aloud.
3) the subtleties of the seizure may be missed Eye blinking or changes in head and extremity
because the observers may be too overwhelmed tone may accompany the behavioral arrest (e.g.,
during the event. Fortunately, the interictal abruptly stopping reading aloud). Absence sei-
(between seizure) EEG pattern can provide zures cannot be interrupted by verbal or tactile
some information on the seizure type in these (touch) stimulation (Loiseau, 1992).
cases (Panayiotopoulos, 1999). Myoclonic seizures are due to brief con-
traction of muscles often associated with cortical
Generalized Seizures discharges. They often manifest as either a sud-
Primary generalized seizures (those without a den flexion or bending backward of the upper
clear focal cortical onset) account for more than torso and head that lasts less than a second. In
one third of all pediatric epilepsy. They include
absence, myoclonic, tonic, clonic, tonic-clonic,
Table 27.2. Comparison of complex partial

seizures and absence seizures
Table 27.1. Classification of seizures Indication Complex partial Absence
Primary generalized seizures Incidence Common Uncommon
Absence seizures
Duration 30 seconds to 5 Less than 30
Myoclonic seizures minutes seconds
Tonic-clonic seizures
Frequency of Occasional Multiple
Atonic seizures occurrence times daily
Partial seizures Aura Yes No
Simple partial seizures
Consciousness Partial amnesia Immediate
Complex partial seizures and confusion return to
Partial seizures with secondary generalization conscious-
ness
Syndromes
Electroencepha- Focal Generalized
Unclassified logram (EEG)
pattern
Source: Berg et al., (2010).
Epilepsy 491
Figure 27.1. Absence seizure, generalized 3Hz spike, and wave discharge.
contrast, atonic seizures consist of a brief loss Partial Seizures

of postural tone, which may simulate a fainting
spell. While the motor component of individual Partial (focal) seizures start in a localized area
myoclonic and atonic seizures is brief, these sei- of the cerebral cortex; they may spread in space
zures often cluster within a few minutes. Atonic and time, and may progress to become a gener-
seizures that cause an abrupt loss of postural alized seizure. They may arise in areas involv-
tone are often referred to as “drop” seizures. ing motor, sensory, behavioral, autonomic, or
Consciousness is usually impaired during these cognitive function (see Figure 27.2). These sei-
events, and the child makes no attempt to pro- zures often begin with an aura and/or an abrupt
tect him- or herself during the fall. As a result, and unprovoked alteration in behavior. Partial
there is an increased risk of head injury. Brief seizures are classified as simple partial, com-
clonic seizures may also result in falling and plex partial, and complex partial with second-
may be difficult to distinguish from myoclonic ary generalization (see 1989 ILAE classification
seizures. Children with these kinds of seizures scheme, above).
may need to wear a protective helmet through- A simple partial seizure occurs when the
out the day. Following these brief seizures, the epileptic discharge occurs in a limited region
child immediately regains consciousness, often of one cerebral hemisphere and consciousness
crying, seemingly not in pain but upset by the is maintained. If the event is merely sensory in
sudden disruption. nature, it is called an aura. If the seizure spreads,
Tonic-clonic seizures are commonly resulting in an alteration of consciousness, it
referred to as “grand mal” seizures. They may is referred to as a complex partial seizure. As
originate from a focal area of the cerebral cortex noted above, this seizure can progress to sec-
(a partial seizure) that secondarily generalizes, ondary generalization, resulting in a tonic-
or they may arise bilaterally (a primarily gener- clonic motor seizure.
alized seizure). Clonic motor activity involves Complex partial seizures are usually
repetitive jerking of the arms or legs at a regular accompanied by motor movements such as
rate. Tonic activity consists of sustained stiffen- focal jerking, motor arrest, or automatisms.
ing and/or posturing of the extremities. The sei- Automatisms are involuntary movements such
zure usually starts with a loss of consciousness as eye blinking, lip smacking, facial grimacing,
followed by tonic-clonic movements. Respira- groaning, chewing, fidgeting, and fumbling
tion may stop briefly and cyanosis and inconti- hand movements. Occasionally, as a result of
nence are common. The EEG shows bilateral impaired awareness, agitation and anxiety may
spike or polyspike and wave complexes. occur in the confused postictal state.
Figure 27.2. This figure shows the spread of a simple partial seizure. A simple partial seizure may begin anywhere—in this
case, the amygdala of the temporal lobe. The initial feature may be the child’s smelling an unusual odor. The seizure may stop
there or project out to the hippocampus, which may trigger feelings of fearfulness or abdominal queasiness. Memory and visual
perception may be affected if the frontal or occipital lobe is involved. The seizure might ultimately extend to the motor strip,
resulting in twitching of the limb, which may spread to other limbs or to central structures (causing loss of consciousness), thus
becoming a complex partial seizure. Finally, the seizure may cross the corpus callosum to the other cerebral hemisphere and thus
be converted from a partial to a generalized seizure.
A focal clonic seizure may spread from common onset of infantile spasms is between 3
one portion of the brain to a contiguous area and 7 months of age; 90% of children with this
(Jacksonian seizure). If there is a focal onset, condition have onset before 12 months of age.
occasionally tonic or clonic seizures can be fol- An underlying cause or disorder is found
lowed by a reversible weakness on one side of in over three quarters of children with infan-
the body, called a Todd’s paralysis. tile spasms (Transmonte & Barron, 1998), and
almost half have a prenatal or congenital cause.
Epilepsy Syndromes Etiologies include neurocutaneous syndromes
(especially tuberous sclerosis), metabolic syn-
Epilepsy syndromes are seizure disorders that
dromes (e.g., pyridoxine deficiency), genetic
share signs and symptoms, characteristics, spe-
syndromes (e.g., Down syndrome), brain mal-
cific EEG features, clinical course, prognosis,
formations of cortical development (e.g., lis-
response to treatment, and sometimes a com-
sencephaly, polymicrogyria, focal cortical
mon pathogenesis or genetic origin (Wolf,
dysplasia), and intrauterine insults (Pellock et
1994). The epilepsy syndromes fall into two
al., 2010). The most common perinatal cause
broad categories: localization-related epilepsies
is hypoxic-ischemic encephalopathy; common
and generalized-onset syndromes (Table 27.3).
postnatal causes include trauma, infection, and
A few of the common epilepsy syndromes are
brain tumors (Pellock et al., 2010). Infantile
discussed below and are organized primarily by
spasms may evolve into Lennox-Gastaut syn-
age of expression (Table 27.4).
drome after infancy (see the next section).
A small percentage of children with infan-
Infantile Spasms
tile spasms have a cryptogenic cause (i.e., no
Infantile spasms, also known as West syndrome, identifiable etiology). These children tend to
are characterized by clusters of brief flexor (head, respond well to therapy (Kivity et al., 2004),
arms, and hip) or extensor (arm and trunk) con- have normal development before the spasm
tractions or spasms, typically associated with a onset, have a better epilepsy prognosis, and
distinctive EEG finding called hypsarhythmia have a better developmental outcome than chil-
and resulting in developmental regression or dren with an identified etiology.
arrest (Commission on Pediatric Epilepsy of Early recognition and prompt treatment
the ILAE, 1992). It is one of the most common may improve outcome in infantile spasms.
forms of epileptic encephalopathy. The most The goal of prompt medical therapy is to
Epilepsy 493
Table 27.3. Epilepsy syndromes normalize the EEG pattern and to suppress the
seizures. Currently, adrenocorticotropic hor-
Localization-related
mones (ACTH) and vigabatrin are considered
Idiopathic with age-related onset as the first line of treatment, based on limited
Benign childhood epilepsy with centrotemporal evidence (Mackay et al., 2004); high dose pred-
spikes
nisolone has also been used successfully (Lux
Childhood epilepsy with occipital paroxysm
et al., 2004; Pellock et al., 2010). Vigabatrin is
Primary reading epilepsy
used as a first choice for children with infan-
Symptomatic
tile spasms secondary to tuberous sclerosis
Temporal lobe epilepsies
(Wheless, Clarke, Arzimanoglou, & Carpenter,
Frontal lobe epilepsies
2007). Other AEDs have also been used to treat
Parietal lobe epilepsies
infantile spasms, including valproate, phenobar-
Occipital lobe epilepsies
bital, lamotrigine, topiramate, clonazepam, and
Cryptogenic
pyridoxine (Vitamin B6, used to treat infantile
Generalized-onset spasms caused by pyridoxine dependency; Ito,
Idiopathic with age-related onset 1998). In some instances of refractory infantile
Benign neonatal familial convulsions spasms initiated by partial seizures (called facili-
Benign neonatal convulsions tated spasms), or when a single seizure focus is
Benign myoclonic epilepsy of infancy identified, epilepsy surgery may be an option
Absence epilepsy (Shields et al., 1999).
Juvenile myoclonic epilepsy
Grand mal seizures Lennox-Gastaut Syndrome
Cryptogenic or symptomatic Lennox-Gastaut syndrome (LGS) often evolves
West syndrome (infantile spasms) from infantile spasms. This syndrome is defined
Lennox-Gastaut syndrome by a mixture of seizure types consisting of atypi-
Symptomatic cal absence, tonic, drop or atonic, myoclonic,
Undetermined tonic-clonic, and complex partial seizures.
Children with LGS are at increased risk for
Neonatal seizures
frequent falls and injury. The EEG has charac-
Severe myoclonic epilepsy in infancy
teristic features: slow background, anterior slow
Epilepsy with continuous spike-wave activity
during sleep spike wave, and multifocal spikes. Both seizure
Acquired epileptic aphasia (Landau-Kleffner control and resolution of EEG abnormalities
syndrome) appear to be necessary for improved cognitive
and behavioral outcomes. Unfortunately, the
Special syndromes
seizures are difficult to control, and all affected
Febrile seizures children manifest intellectual disability.
Source: Commission on Classification and Terminology
of the International League Against Epilepsy (1989). Landau-Kleffner Syndrome
Landau-Kleffner syndrome, also called acquired
epileptic aphasia, is a disorder of childhood
Table 27.4. Common age occurrence of various characterized by a loss of language skills in
types of seizures and epilepsies association with EEG abnormalities. It is char-
Type of seizure or epilepsy Age of occurrence
acterized by auditory agnosia (the inability to
distinguish different sounds in the presence of
Infantile spasms 4–16 months normal hearing), language regression, and a
Febrile seizures 6 months to 6 years behavioral disturbance that includes inatten-
Lennox-Gastaut syndrome 1–5 years tion. These symptoms may develop gradually
over months. The EEG pattern shows continu-
Childhood absence 4–12 years
epilepsy ous abnormal epileptiform activity that is acti-
vated by sleep and obscures the normal sleep
6–14 years (peak at
Benign rolandic epilepsy pattern (Rossi et al., 1999). The goal for treat-
5–8 years)
ment is normalization of the EEG and control
7–17 years (peak at of overt clinical seizures. Several AEDs can be
Juvenile absence epilepsy
14 years)
tried, and steroids may be useful. However,
Juvenile myoclonic epilepsy
8–26 years (peak at while medication may resolve the EEG abnor-
17 years) malities, the aphasia often persists. Prognosis is
variable; some children recover some function years of age and causes simple partial seizures.
after several years, while others are left with The seizure typically starts in the region of the
permanent speech impairments. cortex that controls mouth and face movements;
it most commonly occurs at sleep onset or at
Juvenile Myoclonic Epilepsy arousal and can generalize. When the seizure
Juvenile myoclonic epilepsy (JME) commonly starts in sleep, the partial component is unob-
begins during adolescence and is manifested served; therefore, children may appear to be hav-
by myoclonic jerks that occur upon awakening a generalized tonic-clonic seizure (Lerman,
ing. More commonly, these myoclonic jerks 1992). The characteristic EEG abnormality is
are overlooked; until a generalized tonic-clonic epileptic spikes in the centrotemporal area (Fig-
seizure occurs, medical attention is not sought. ure 27.3). Treatment is often not needed, and
The seizures are exacerbated by alcohol inges- these syndromes are not usually associated with
tion, sleep deprivation, and photic stimulation. long-term sequelae. Some studies, however, have
JME is likely to be genetically mediated, and found an increased incidence of language and
individuals with JME have normal intelligence. reading disabilities in children who have BRE
In terms of treatment, AEDs that are effective (Fejerman, Caraballo, & Tenembaum, 2000).
for generalized rather than partial seizures are A second seizure type in this grouping is
indicated, such as valproate and lamotrigine benign occipital epilepsy. It is characterized by
(Montalenti, Imperiale, Rovera, Bergamasco, visual disturbances and may be accompanied by
& Benna, 2001; Wallace, 1998). Previously, vomiting, headache, eye blinking, and alteration
individuals with JME were thought to require of consciousness. At times it may be difficult to
lifelong treatment with an AED. However, in a differentiate these signs from migraine headaches.
long-term follow-up study one third of partici- Unlike BRE, one half of patients with benign
pants experienced seizure remission over time, occipital epilepsy will not outgrow their seizures.
and lifelong AED treatment was not needed Panayiotopoulos syndrome, which also exhibits
(Camfield & Camfield, 2009). occipital epileptiform discharges, is characterized
by brief, paroxysmal, and varying autonomic signs
Benign Epilepsy Syndromes and symptoms.
The most common idiopathic benign epilepsy
syndrome of childhood is called benign child- Febrile Seizures
hood epilepsy with centrotemporal spikes, also Febrile convulsions are the most common sei-
referred to as benign rolandic epilepsy (BRE). zures occurring in the pediatric age group. This
This syndrome usually begins between 3 and 12 is not considered an epilepsy syndrome because
Figure 27.3. Centrotemporal spikes typical of benign rolandic epilepsy.

Epilepsy 495
the seizures are provoked (by fever). Febrile For prevention of febrile seizures in sus-
seizures occur in approximately 5% of children ceptible children, parents are taught to treat
who are between the ages of 6 months and 5 fever aggressively and promptly with anti-
years (Nelson & Ellenberg, 1978). They gener- pyretics (medication for fever, such as acet-
ally occur with temperature elevations above 39 aminophen). Prophylactic AEDs are usually
degrees Celsius (102 degrees Fahrenheit). Those not recommended because the benefit of pre-
that occur with lower temperatures are associ- venting subsequent seizures does not outweigh
ated with an increased risk for recurrent febrile the risks of adverse effects from long-term
seizures (Berg, Darefsky, Holford, & Shinnar, use. Although medications may prevent subse-
1998). Acute illnesses such as upper respiratory quent febrile seizures, AEDs do not prevent the
infections, middle ear infections, gastroenteri- development of future epilepsy, and they may
tis, and viruses associated with skin rashes (e.g., interfere with learning and attention (Knudsen,
roseola) are frequent causes of febrile seizures. 2000). An alternative to chronic treatment is
Febrile seizures occur in two forms: simple acute management with rectal or nasal benzo-
febrile seizures, which manifest as a single gen- diazepines at the time of the seizure, which may
eralized tonic seizure lasting less than 15 min- abort a prolonged febrile seizure or prevent
utes (usually much less than this) and occurring clusters of febrile seizures.
during an acute illness, and complex febrile
seizures, which are prolonged, focal, and/or Conditions that Mimic Epilepsy
recurrent during a single illness (Hirtz, 1997). There are a number of conditions that mimic
Febrile seizures tend to be familial and thus are seizures but are not epileptic events because
postulated to have a genetic basis (Audenaert, they do not involve abnormal discharges of the
Van Broeckhoven, & De Jonghe, 2006). In a cortical neurons (Table 27.5). In general, if a
child with a febrile seizure, the risk for a febrile behavior can be triggered, interrupted, or mod-
seizure in a sibling is 10%; if a parent has a his- ified by external stimuli, then it is probably not
tory of febrile seizure, the risk for that sibling a seizure. A few examples are discussed below.
increases to 50%. Most random movements seen during
In a child who presents with a febrile sei- sleep are a part of normal sleep activity. These
zure, the risk of a subsequent febrile seizure is include random jerks of the extremities or eyes
30%–50%, depending on the child’s age at the (rapid eye movements) that occur during active
time of the first seizure, the presence of a fam- sleep, when the child is dreaming. Occasionally,
ily history of febrile seizures, and the degree sleep movements can be confused with seizures.
of fever (Berg et al., 1992). After a simple Benign sleep myoclonus of infancy occurs in
febrile seizure, the risk of developing epilepsy newborns and infants during sleep and disap-
by school age is 1%. The risk of epilepsy is pears on arousal (Pachatz, Fusco, & Vigevano,
2%–3% following a complex febrile seizure 1999). It is characterized by a brief arrhythmic
(Nelson & Ellenberg, 1976). The risk of devel- twitching of a limb during sleep that may be
oping epilepsy later in life increases if a fam-
ily history of epilepsy exists or if the child has
a developmental disability such as cerebral
palsy, autism, or intellectual disability (Nelson Table 27.5. Conditions that may mimic epilepsy
& Ellenberg, 1976). In some studies, febrile Migraine headaches
seizures with focal features or febrile status Movement disorders (tic disorders, paroxysmal
epilepticus have been associated with the devel- kinesogenic choreoathetosis)
opment of temporal lobe epilepsy. As many as Breath-holding spells
30%–50% of adults with refractory temporal Shuddering
lobe epilepsy associated with mesial tempo- Parasomnias and normal physiological movements
ral epilepsy have a history of febrile seizures in sleep
(Bower et al., 2000). In contrast, children with Sleep disorders (narcolepsy, cataplexy, night terrors)
frequent but brief generalized febrile seizures Behavior disorders (rage attacks, inattentiveness,
are more likely to have a genetic cause. One attention-deficit/hyperactivity disorder)
example is the SCN1A gene mutation, which Panic attacks and hyperventilation
interferes with the sodium channel ionophore Nonepileptic seizures (previously “pseudoseizures”)
(an ion transporting system) that mediates neu- Syncope and other cardiac dysrhythmias, valvular
ronal firing and is the underlying cause of the disease, or autonomic dysfunction
syndrome known as generalized epilepsy with Hyperexplexia
febrile seizures plus (GEFS+). Gastroesophageal reflux
mistaken for a seizure; the EEG is normal dur- with brief generalized convulsions followed by
ing this behavior. lethargy (Kuhle, Tiefenthaler, Seidl, & Hauser,
Other more complex motor behaviors may 2000). There is, however, no epileptic activity
occur 1–2 hours after sleep onset or occasion- on the EEG during these episodes.
ally upon arousal. These parasomnias include
night terrors, sleep talking, sleepwalking, and
DIAGNOSIS AND EVALUATION
teeth grinding (Laberge, Tremblay, Vitaro, &
Montplaisir, 2000). Rarely, nocturnal frontal Epilepsy is defined as two or more unprovoked
lobe seizures are misinterpreted as a para- seizures separated by at least 24 hours. The diag-
somnia; a video EEG recording is required nosis of epilepsy starts with the clinical history
to distinguish between the two (Lombroso, and physical examination. A detailed descrip-
2000; Zucconi, Oldani, Ferini-Strambi, Biz- tion of the event is crucial. The history should
zozero, & Smirne, 1997). During a parasom- include mention of the presence or absence of
nia, the eyes are open and the child appears to an aura, the child’s responsiveness during the
be awake, but the EEG shows a normal sleep event, and postictal changes, including altered
rhythm. These parasomnia episodes may last mental status and transient focal neurologi-
as long as 15–30 minutes, much longer than a cal impairments. For example, a tongue bite
typical seizure, and the parent may be unable and urinary or bowel incontinence during the
to end the spell or rouse the child during this episode suggests a seizure as a cause of the epi-
time. Rarely, treatment with medication such sode. Acute seizure precipitants should also
as diazepam is necessary if the behavior is sig- be explored, including infection, trauma, and
nificantly disruptive to family life. drugs (illicit or accidental ingestion).
Behavior disorders such as staring spells The history helps to distinguish seizures
and rage attacks can be mistaken for seizures. from seizure mimics and assists in classifica-
Brief staring spells (daydreaming or “spacing tion of seizure type. For example, an infant or
out”) are most commonly a sign of inattention young child who turns blue or pale and loses
but may resemble absence seizures. Staring consciousness after being upset or hurt likely
spells, however, lack the subtle motor changes has a breath-holding spell rather than a seizure.
seen with absence or complex partial seizures The presence of an aura or a brief one-sided
(Bye, Kok, Ferenschild, & Vles, 2000). In tem- weakness following the convulsion suggests a
per tantrums and rage attacks, the child cries, partial (focal) seizure. In children who present
yells, throws him- or herself on the floor, and with a generalized tonic-clonic convulsion, an
lashes out at nearby people (Gordon, 1999). initial rapid head turn or eye deviation to one
This may be associated with sweating, pale- side may suggest a partial seizure, with the epi-
ness, and dilated pupils. Although a similar leptogenic focus in the contralateral (opposite
dyscontrol syndrome (intermittent explosive side from the head turn) hemisphere. A staring
disorder) has been seen following frontal or spell that lasts for a minute or more followed by
temporal lobe brain injury, ictal rage is usu- postictal altered mental status (e.g., confusion,
ally unprovoked, very rare, and not directed lethargy) points to a complex partial seizure.
toward a person (Pellock, 2006). After a rage On the other hand, brief staring spells lasting
attack the child resumes a normal state and a few seconds with return to full consciousness
may express remorse, while after an ictal event immediately afterwards suggests an absence sei-
the child does not remember the episode (Pel- zure. Staring, however, could also be a manifes-
lock, 2006). tation of non-epileptic events like daydreaming
Breath-holding spells typically occur in and inattention. About half of non-epileptic
infants 6–18 months of age and are accompa- events captured on EEG monitoring are star-
nied by a loss of consciousness and a generalized ing episodes (Uldall, Alving, Hansen, Kibæk, &
convulsion. The child becomes upset and cries Buchholt, 2006).
vigorously, followed by an arrest in breathing. The physical and neurological examina-
If the breath holding lasts long enough, it may tion may identify an acute illness or a remote
result in a brief loss of consciousness followed neurologic disorder. Attention should be paid
by rapid neurological recovery. In pallid infan- to head circumference, skin exam (e.g., café-
tile syncope, the child faints or convulses after a au-lait spots), and focal neurological impair-
startling, often minor, injury. This presumably ments (e.g., weakness on one side, as in Todd’s
results from an exaggerated vasovagal reflex. paralysis).
Occasionally a prolonged breath-holding or Routinely performed laboratory tests such
syncopal (fainting) episode can be associated as complete blood count, electrolytes, glucose,
Epilepsy 497
and toxin screen are not helpful in a well child neurologic examination, the seizure recurrence
who has recovered from a brief seizure. How- risk is higher if the EEG is abnormal (Shinnar
ever, electrolytes should be determined in chil- et al., 1996). In situations in which the nature
dren younger than 2 years to check for sodium, of the events is unclear, continuous video EEG
calcium, and glucose levels. Glucose should be monitoring for 23 hours or longer may be
checked in all children in status epilepticus and needed to capture and characterize the events.
in those who have a history of seizures with Continuous video EEG is also required as part
fasting. Physicians need to individualize such of the evaluation in children for whom epilepsy
tests to the specific clinical context (Hirtz et al., surgery is being considered.
2000). Similarly, lumbar puncture (spinal tap)
should be reserved for febrile individuals or Neuroimaging
those with prolonged altered consciousness or Brain imaging with MRI is essential to identify
in whom meningitis or encephalitis is a concern structural lesions that cause seizures. In some
(Hirtz et al., 2000). A lumbar puncture, chemi- epilepsy syndromes (BRE, childhood or juve-
cal panel, metabolic tests for inborn errors of nile absence epilepsy, and JME), the likelihood
metabolism (e.g., plasma amino acids, urine of a structural lesion is low, and routine neuro-
organic acids, lactate, pyruvate), imaging (com- imaging is not indicated unless atypical features
puted tomography [CT]/magnetic resonance are present or the clinical course is unusual.
imaging [MRI]), and an EEG should be consid- In all other children with recently diagnosed
ered in children with continuing neurological localization-related (partial or focal) epilep-
impairment after a seizure. sies or generalized epilepsies, neuroimaging is
recommended (Gaillard et al., 2009; Hsieh et
Electroencephalogram al., 2010). Neuroimaging should also be done
A sleep-deprived EEG is indicated in the workup in any child younger than 2 years of age with
of all children suspected of having seizures. seizures that are other than benign febrile con-
To perform the EEG, recording electrodes vulsions. The preferred imaging modality is
(approximately 20) are placed on the scalp at set brain MRI because of its higher yield and bet-
points over the frontal, central, parietal, tempo- ter anatomic detail than CT scan (Gaillard et
ral, and occipital regions bilaterally. These elec- al., 2009). Head CT is usually performed in the
trodes record voltage changes from the cortex emergency department setting and may identify
below. The EEG displays electrical potential tumors, bleeding, and calcifications.
differences between neighboring electrodes, or Functional neuroimaging studies are used
an electrode and a reference point. The EEG to identify the location of the seizure focus
provides information regarding 1) background when epilepsy surgery is considered and the
electrical activity (e.g., generalized or focal MRI is normal. FDG-PET (a type of positron
slowing, which suggests diffuse or focal cere- emission tomography [PET] that uses fluoro-
bral dysfunction, respectively), 2) the presence deoxyglucose [FDG], an analog of glucose)
or absence of epileptic discharges (e.g., sharp assesses interictal brain metabolism. A seizure
waves or spike and wave discharges indicating focus tends to have low metabolism between
cortical hyperexcitability), and 3) response to seizures. A related technique, SPECT (single
seizure-activating procedures (e.g., hyperven- photon emission computed tomography),
tilation, photic stimulation, sleep deprivation). assesses blood flow to the brain and may identify
The EEG should be recorded during wakeful- the seizure focus. MEG (magnetoencephalog-
ness and light sleep. Light sleep tends to acti- raphy) helps in localization of the epileptiform
vate epileptiform discharges and increases the discharges or spikes. Functional MRI is used to
yield of the EEG. identify noninvasively eloquent (language) and
The EEG findings along with the clinical sensory/motor areas to be spared during epi-
data will help to establish the diagnosis of the lepsy surgery (O’Shaughnessy, Berl, Moore, &
specific seizure type. For instance, the finding Gaillard, 2008). Magnetic resonance spectros-
of 3 Hz generalized spike and wave discharges copy (MRS), which can be performed during an
activated by hyperventilation is diagnostic of MRI scan, assesses the concentration of some
absence epilepsy (Figure 27.1). Centrotempo- chemicals (e.g., N-acetylaspartic acid, choline,
ral spike and wave discharges activated in sleep creatine, lactate) in specific brain regions and is
suggest BRE (Figure 27.3). The EEG may also helpful in the workup of certain metabolic dis-
provide prognostic information. In children orders (e.g., abnormal lactate peak may be seen
with a first unprovoked seizure and normal in mitochondrial disorders).
TREATMENT following indicators: 1) remote symptomatic

causes (i.e., occurring more than 1 week after a
The treatment of seizures starts prior to arrival disorder known to precipitate a seizure, such as
at the hospital, and parents need to be educated a head injury), 2) an abnormal EEG, 3) a history
about prehospital care. of febrile seizure, 4) Todd’s paralysis, or 5) a sei-
zure during sleep (Berg, 2008; Shinnar et al.,
Prehospital Management 1996). About half of seizure recurrences occur
of Acute Seizures in the first 6 months, and 88% within 2 years
For children with epilepsy, the child and family of the initial seizure (Shinnar et al., 1996). The
must be educated about common-sense seizure seizure recurrence risk increases to 65%–79%
precautions. These include taking a shower after two unprovoked seizures (Camfield et al.,
instead of a bath, leaving the bathroom door 1985; Hauser et al., 1998). Postponing initiating
unlocked, avoiding climbing heights (e.g., a lad- AEDs until the second seizure does not appear
der), wearing a helmet while riding a bicycle, to alter the ultimate prognosis, the risk of brain
and swimming in clear water and only with vigi- injury, or the efficacy of AEDs (Arts & Geerts,
lant adult supervision. 2009; Hirtz et al., 2003). Thus, a child who has
First aid measures and emergency plans two or more unprovoked seizures should be
during a seizure should be discussed with par- considered for initiation of AED. Treatment
ents and the school nurse. During a generalized should be individualized, however, as some
tonic-clonic convulsion (grand mal seizure) the children with benign epilepsy syndromes may
child should be placed on a flat surface and not need AEDs even if they have two or more
turned to one side to prevent aspiration. Tight seizures, providing the seizures are infrequent,
clothes should be loosened around the neck, nocturnal, or simple partial seizures.
but no object should be placed between the
teeth. The airway should be maintained using Mechanisms, Selection
a jaw thrust, but cardiopulmonary resuscitation and Use of Antiepileptic Drugs
is rarely required. AEDs act on excitatory (glutamate) and inhibi-
Seizures usually last less than 5 minutes, tory (gamma-aminobutyric acid, or GABA)
but if they persist longer they may continue mediated neurotransmission in cortical neu-
for a prolonged period of time (status epilepti- rons. The specific mechanisms of action of
cus) if there is not intervention (Shinnar, Berg, various AEDs include 1) modulation of volt-
Moshé, & Shinnar, 2001). Therefore, if a sei- age-gated sodium channels (phenytoin, carba-
zure lasts 5 minutes or longer, rectal diazepam mazepine, felbamate, lamotrigine, topiramate,
gel should be given at home. Intranasal or buc- oxcarbazepine, and zonisamide), 2) modulation
cal midazolam (Holsti et al., 2010; Scott, Besag, of calcium channels (ethosuximide, zonisamide,
& Neville, 1999) and dissolving clonazepam and valproic acid), 3) enhancing GABA action
wafers placed between the cheeks and gum (benzodiazepines, barbiturates, tiagabine, viga-
(Troester, Hastriter, & Ng, 2010) are alterna- batrin), and 4) inhibiting glutamate (topiramate
tives to rectal diazepam with comparable effi- and felbamate). Many AEDs exert their effect
cacy and better ease of administration. through multiple mechanisms of action (Sankar
& Holmes, 2004). Selection of AEDs is based
Antiepileptic Drugs primarily on seizure type (partial versus gener-
AEDs are the first line of treatment in almost all alized), specific epilepsy syndrome, side effect
types of epilepsy. The ideal AED would control profile, and comorbid conditions (Wilfong,
seizures and correct the underlying epilepto- 2007).
genic focus without producing adverse effects. AEDs are broadly divided into narrow-
Unfortunately, as of the publication of this book spectrum (carbamazepine, gabapentin, lacos-
none of the currently available AEDs meet this amide, oxcarbazepine, phenobarbital, phenytoin,
standard. As a result, the decision to start AED tiagabine) and broad-spectrum (lamotrigine,
treatment involves balancing the risk of poten- levetiracetam, rufinamide, topiramate, valpro-
tial harm caused by recurrent seizures against ate, and zonisamide). The narrow-spectrum
the adverse side effects of the medication. drugs are effective in partial or secondarily gen-
In considering recurrence after a single eralized epilepsies, while broad-spectrum AEDs
unprovoked seizure, data indicate a risk of are effective in both partial and generalized
40%–50% (Berg, 2008). The risk of recurrence epilepsies (Asconape, 2010). Table 27.6 shows
tends to be higher in children with one of the the choice of AEDs based on seizure type. For
Epilepsy 499
Table 27.6. Selection of antiepileptic drugs failed in a child with partial/focal epilepsy,
(AEDs) based on seizure types other treatment modalities should be consid-
Seizure type First line AEDs ered (e.g., surgery). For generalized seizures
that are refractory to AEDs, the ketogenic diet
Partial or secondarily Carbamazepine,
(discussed below) may be a viable alternative.
generalized epilepsy oxcarbazepine
When receiving AEDs, the child should be
Generalized epilepsy Valproate, lamotigine, monitored for adverse effects. In addition, AED
topiramate
drug levels can be useful to assess adherence to
Absence seizures Ethosuximide, lamotrig- treatment, to know the individual’s effective
ine, valproatea
therapeutic drug level for future comparisons,
Juvenile myoclonic Valproatea, lamotrigine, to diagnose clinical toxicity, and to adjust dos-
epilepsy topiramate age (Patsalos et al., 2008).
Tonic-clonic seizures Valproatea, lamotrigine,
topiramate Antiepileptic Drugs Adverse Effects
Lennox-Gastaut Valproatea, lamotrigine, Prior to 1993, carbamazepine, ethosuximide,
syndrome topiramate phenobarbital, phenytoin, and valproate were
Infantile spasms ACTH, vigabatrinb the only commonly used AEDs. Since 1993, a
Source: Wheless, Clark, & Carpenter (2005). number of new AEDs have been introduced:
aThe risk of valproate-induced hepatic toxicity is high in felbamate, gabapentin, lacosamide, lamotrigine,
children < 2 years of age. levetiracetam, oxcarbazepine, pregabalin, rufin-
bVigabatrin is the treatment of choice in children with amide, tiagabine, topiramate, zonisamide, and
tuberous sclerosis.
vigabatrin. The newer AEDs, as a group, have
comparable efficacy in controlling seizures, and
several have a better side effect profile overall as
example, carbamazepine and oxcarbazepine are compared to the older AEDs.
first line drugs in partial seizures with or with- AED adverse effects fall into three catego-
out secondary generalization, while valproate, ries: dose-related adverse effects, idiosyncratic
lamotrigine, topiramate, and perhaps leviteraci- reactions, and chronic adverse effects (Perucca
tam are first line drugs in generalized epilepsies & Meador, 2005). Dose-related adverse effects
(Wheless, Clarke, & Carpenter, 2005). Valpro- are often related to the central nervous system
ate, pregabalin, and carbamazepine are associ- and manifest as somnolence, dizziness, ataxia,
ated with weight gain while topiramate and and cognitive impairment. Idiosyncratic reac-
zonisamide result in weight loss. Therefore, in tions include urticaria, Stevens-Johnson syn-
children with comorbid obesity, avoiding AEDs drome, hepatitis, and aplastic anemia. Chronic
that cause weight gain and selecting topiramate adverse effects include weight change, gingival
or zonisamide may be appropriate. As another hyperplasia, hair loss, and osteopenia (Perucca
example of a comorbid condition, children with & Meador, 2005). When adverse effects occur,
migraine and epilepsy could be treated for both the dose of the AED should be decreased or
conditions with topiramate or valproate. Car- stopped if the reaction is severe.
bamazepine, lamotrigine, and valproate are AED-related cognitive adverse effects are
appropriate choices for children with comorbid especially important in young children because
mood disorders. Phenobarbital and topiramate, they may result in long-lasting developmental
on the other hand, are associated with depres- impairments (Loring & Meador, 2004). AEDs
sion and are better avoided in children with predominantly affect attention and psychomotor
mood disorders. In terms of side effects, many speed (Hessen, Lossius, Reinvang, & Gjerstad,
parents whose children have refractory epilepsy 2006; Lagac, 2006; Loring & Meador, 2004).
will tolerate a few seizures if it means a more Although all AEDs can cause cognitive adverse
alert child with a lower AED dose or the use of effects at high doses and in the presence of poly-
fewer drugs. pharmacy (Perucca & Meador, 2005), pheno-
AEDs should be started at a low dose barbital and topiramate seem to be incriminated
and titrated steadily upward until control is most often (Glauser et al., 2007; Park & Kwon,
achieved. Whenever possible, monotherapy is 2008; Sulzbacher, Farwell, Temkin, Lu, & Hirtz,
preferred to polypharmacy, which increases the 1999). Leviteracitam is also a concern, as it has
risk of adverse effects and drug interactions. If been associated with reversible deterioration in
two or more AEDs at appropriate doses have behavior and occasionally psychosis.
Drug Interactions of estrogen and increase protein binding of pro-

AEDs that induce (e.g., carbamazepine, phe- gesterone; therefore, increasing the estrogen
nytoin, and phenobarbital) or inhibit (e.g., val- dose and backup contraception may need to be
proate) hepatic cytochrome P450 (CYP450) considered (Zupanc, 2006). A second concern is
enzymes may affect the levels of other concomi- teratogenesis (the induction of malformations in
tantly used AEDs or their metabolites, as well the fetus). Most AEDs are categorized as preg-
as different classes of drugs (Perucca, 2005). nancy category C (teratogenicity in experimental
CYP450 enzyme-inducing AEDs reduce the animals, no human studies) and the risk of con-
concentration of other AEDs that are metab- genital malformations is higher than in the gen-
olized by the hepatic enzyme system, in some eral population (Asconape, 2010). Risk-benefit
instances to a significant degree. Valproic acid analysis, however, favors continuation of most
inhibits the glucuronidation of lamotrigine and AEDs during pregnancy. Valproate and pheno-
may result in higher plasma lamotrigine levels, barbital, however, are associated with a higher
increasing the risk of adverse effects, especially incidence of congenital malformations and
Stevens-Johnson syndrome. To prevent such should be avoided during pregnancy. Valproate
adverse effects, lamotrigine should be started at is associated with an increased risk of neural tube
a very low dose, titrated up slowly, and main- defects (see Chapter 25). In addition, a study that
tained at a lower dose in patients taking valproic compared the effect of in utero exposure of carba-
acid. Other drugs could also affect the hepatic mazepine, lamotrigine, phenytoin, and valproate
enzyme systems. Erythromycin and clarithro- on IQ at 3 years of age showed that valproate was
mycin, for instance, inhibit CYP450 enzymes; associated with a substantially increased risk of
children taking carbamazepine may develop cognitive impairment and perhaps autism com-
toxicity if these antibiotics are used at the same pared with the other AEDs (Meador et al., 2010).
time. Anticipating potential drug interactions,
avoiding drug combinations that have sig-
Discontinuing Antiepileptic Drugs
nificant interactions, adjusting doses carefully, There are a number of concerns about the long-
monitoring for adverse effects, and monitoring term use of AEDs. These include teratogenic-
blood levels of AEDs will all decrease the risk ity, poor self-image, adverse effects of drugs,
of drug toxicity and loss of efficacy due to drug and cost of treatment in time and money. As a
interactions. It is also important to anticipate a result, practitioners attempt to stop AEDs after
significant change in the blood level of AEDs a sufficient period of seizure freedom. An EEG
when a concomitantly administered drug that is is performed when a decision about stopping
an enzyme inducer or inhibitor is discontinued. AEDs is considered. A normal EEG is reassur-
ing, while an abnormal EEG introduces a level
Antiepileptic Drugs of uncertainty about seizure recurrence risk.
The risk of seizure recurrence after discontinu-
and Bone Metabolism
ation of an AED in a child who has been seizure
Chronic use of AEDs may be associated with free for 2 years or longer is 25%–36% (Caviedes
abnormal bone metabolism. AEDs that induce & Herranz, 1998; Shinnar et al., 1994). Chil-
CYP450 enzymes accelerate vitamin D metabo- dren with symptomatic causes of their epilepsy
lism and may cause vitamin D deficiency (Shell- or comorbid developmental disabilities have a
haas & Joshi, 2010). In children with prolonged lower rate of seizure freedom after discontinua-
AED therapy, bone metabolism should be moni- tion of AEDs (20%–50%). If a decision is made
tored using laboratory tests (25-OH vitamin D) to stop AED treatment, the medication should
and imaging studies (DEXA scan). Multivita- be tapered off over several months and not
mins with calcium and vitamin D (400–800 IU) abruptly discontinued, as this may precipitate a
need to be considered in this group of children. seizure or have other side effects.
Antiepileptic Drugs Other Treatment Options

in Adolescent Women In children who failed to respond to 2 or more
There are two major concerns in the treatment appropriate AEDs, the ketogenic diet and sur-
of adolescent women with epilepsy. One concern gery are treatment options.
is loss of efficacy of contraception in individuals
who are taking certain AEDs (carbamazepine, Ketogenic Diet
phenytoin, phenobarbital, and topiramate, at The ketogenic diet mimics the fasting state and
high dose). These drugs increase the metabolism is a high fat, low carbohydrate and low protein
Epilepsy 501
diet. It is restrictive and not tasty. The ketogenic is a treatment option for refractory epilepsy,
diet has been used in treating a few rare inborn including atonic (or drop) seizures and second-
errors of metabolism, including glucose trans- arily generalized epilepsy (Rosenfeld & Rob-
porter deficiency (a condition associated with erts, 2009). A vagus nerve stimulator (VNS)
epileptic encephalopathy and resulting from provides intermittent electrical impulse to the
impaired glucose transport to the brain; Klep- left vagus nerve. Approximately 30%–40% of
per, 2008) and pyruvate dehydrogenase defi- individuals may have a 50% reduction in tar-
ciency. More commonly, this diet has been used geted seizures following the procedure (Map-
to treat children with a wide variety of seizure stone, 2008). Deep brain stimulation (DBS)
types and syndromes that have proven refrac- and direct cortical stimulation are currently
tory to AEDs (Freeman, Kossoff, & Hartman, being studied in adults (but not yet available for
2007). During treatment with a ketogenic diet, children) to control or to abort seizures (Jobst,
urine and blood ketone levels should be moni- Darcey, Thadani, & Roberts, 2010).
tored to ensure adequate ketosis. Side effects
during the initiation of this dietary therapy Nonspecific Interventions
include metabolic acidosis, hypoglycemia (low Common seizure exacerbating or provoking
blood sugar), gastrointestinal distress, and leth- factors include sleep deprivation and infection,
argy. Renal stones, dyslipidemia (abnormal lipid with or without fever. Parents and children
profile), and failure to thrive are late side effects should be counseled about good sleep hygiene
(Freeman et al., 2007). The diet can be stopped and the importance of prevention and treat-
after the child is seizure free for a prolonged ment of infections and fever. Flashing lights
period, in much the same way as discontinua- provoke seizures in children with photosensi-
tion of AEDs. tive epilepsy. Seizures may also be exacerbated
around the time of ovulation or menses (cata-
Surgical Resection of Epileptic Focus menial epilepsy) and may respond to hormonal
Surgical resection of the epileptic focus should treatment (birth control pills). Poor adherence
be considered in children with partial epilepsy to medications is an important cause of break-
who have failed two or more appropriate AEDs through seizures, and compliance issues should
administered at adequate dosage. After adding a be discussed with the family.
third medication, the likelihood of subsequent
medications working is 4%–8%. Epilepsy sur- Vitamins, Minerals,
gery should be considered when there is a clear and Complementary
focal lesion (e.g., mesial temporal sclerosis, focal and Alternative Medicine
cortical dysplasia, developmental tumor, vascu- Folate supplementation is recommended for
lar malformation). In these cases the likelihood females of childbearing age who are taking val-
of excellent outcome from surgery is 80%–85% proate, in order to decrease the risk of neural
(50%–60% seizure free, 25%–30% rare sei- tube defects in their fetus should they conceive
zures). If the MRI is normal but the PET or while taking this AED. Pyridoxine is indicated
SPECT is abnormal, then there is a 50%–60% in the treatment of a rare form of epilepsy
likelihood of excellent surgical outcome. If all resulting from pyridoxine dependency. Calcium
imaging studies are normal, surgical benefit and vitamin D supplementation may be help-
drops to 25%–30%. Hemispherectomy (involv- ful in preventing osteopenia and osteoporosis.
ing removal of a damaged or diseased hemi- Seizures resulting from certain inborn errors of
sphere) is performed for hemimegalencephaly, metabolism may be treated with vitamins and
Rasmussen’s encephalitis, and occasionally for nutritional supplements. Although some fami-
porencephaly and widespread malformations of lies consider alternative medicine for the treat-
cortical development. ment of epilepsy, there is no evidence that the
various homeopathic and herbal remedies are
Palliative Surgery effective (Danesi & Adetunji, 1994). It is also
When a seizure focus cannot be identified or important to understand that “natural” is not
resected, or when there are multiple seizure foci, necessarily harmless (see Chapter 38).
palliative epilepsy surgery may reduce seizure
frequency or severity. These procedures rarely MULTIDISCIPLINARY CARE
result in seizure freedom but may improve
quality of life. Disconnecting the corpus callo- Addressing the various needs of a child with
sum (a procedure called a corpus callosotomy) epilepsy requires a multidisciplinary approach,
preferably in a comprehensive epilepsy center. learning disorders), the presence of an underly-

The team includes neurologists, psychiatrists, ing neurological disorder, social stigma, and the
neuropsychologists, nurses, social workers, and unpredictability of seizures. Even children who
other health professionals. have had only a single seizure or children newly
diagnosed with epilepsy are more likely to report
School Performance impaired HRQL, probably indicating the impact
and Special Education of child and parental anxiety (Modi et al., 2009).
Children with epilepsy may have cognitive and Social stigma may affect the child’s self-perception,
learning difficulties. A child with absence sei- leading to low self-esteem and depression. Parents
zures may start to do poorly in school as the may react to seizures by overprotecting the child,
seizure frequency increases. Dose change or which may have the unintended consequence of
introduction of new AEDs may cause decreased fostering a lifelong dependence. Seizures affect
attention and somnolence, and interfere with the entire family. Mothers of children with epi-
the child’s school performance. Irritability and lepsy tend to be at increased risk for depression
aggression may occur as a result of medication (Ferro & Speechley, 2009). There is also a sig-
adverse effects. Comorbidities such as atten- nificant financial and time burden to the family.
tion-deficit/hyperactivity disorder may accom- The child as well as the whole family needs to be
pany epilepsy and contribute to poor school educated about epilepsy, and support should be
performance. provided.
Teachers should be aware of the need for Children with epilepsy should generally
closer monitoring of school performance in be encouraged to participate in sports. Routine
children with epilepsy. A child with declining safety precautions should be applied as with any
school performance needs a thorough evalua- child participating in sports. However, some
tion for possible causes, including seizure exac- sport activities pose a significant danger to a per-
erbation, AED adverse effects, comorbidities, son with epilepsy (e.g., scuba diving, rock climb-
learning and memory problems, and psychoso- ing, parachuting, swimming in water that is not
cial stress. Corrective actions may include med- clear, and/or swimming unsupervised) and must
ication adjustment, treating comorbidities, and/ be avoided (Fountain & May, 2003).
or designing a revised individualized education Family vacations and camping trips should
program (IEP). Children with epilepsy are eli- be encouraged, but excess fatigue should be
gible to receive special education and related avoided. The family needs to have an adequate
services through the Individuals with Dis- supply of AEDs and the doctor’s and pharmacy’s
abilities Education Improvement Act (IDEA) telephone number at hand during trips. Wear-
of 2004 (PL 108-446) under “other health ing a medical identification bracelet or necklace
impairments.” may be useful, if it is acceptable to parents and
A seizure in the classroom may be a source the child.
of anxiety and embarrassment for a child, per- Independence should be encouraged as
haps more so when the seizure is associated with the child enters adulthood. Driving license laws
bladder or bowel incontinence. For children vary from state to state but generally require the
with seizures associated with incontinence, a individual to be seizure free for between 3–12
towel and a fresh change of clothing can be months. Altered fertility rate and potential tera-
kept in the nurse’s office. Educating classmates togenic effects of AEDs are issues that need to
about epilepsy and what to expect may be help- be addressed. Several organizations, such as the
ful. Parents may request a classroom discussion American Epilepsy Society, the Epilepsy Foun-
about seizures. The discussion does not have to dation, and the ILAE, advocate for acceptance
identify the specific child (Coleman & Fielder, of individuals with epilepsy in society.
1999). In contrast, if a child’s seizures are well
controlled or if he or she does not have daytime OUTCOME
seizures, a discussion about seizures to class-
mates may be counterproductive. A majority of children (70%–80%) with epilepsy
achieve seizure control with the first or second
Psychosocial Issues AED, and about two thirds can be successfully
Seizures affect health-related quality of life weaned off their AEDs after 2 years of being
(HRQL) measures through several mechanisms. seizure free (MacDonald et al., 2000). Children
These include frequency of seizures, AED adverse who have had a single seizure exhibit intel-
effects, comorbidities (e.g., anxiety, depression, ligence scores comparable to sibling controls
Epilepsy 503
(Sogawa, Masur, O’Dell, Moshé, & Shinnar, Arts, W.F, & Geerts, A.T. (2009). When to start drug
2010). In one prospective study, about 74% of treatment for childhood epilepsy: The clinical-epi-
demiological evidence. European Journal of Paediatric
children with epilepsy had average global cog- Neurology, 13(2), 93–101.
nitive function, while 26% had lower cognitive Asconape, J.J. (2010). The selection of antiepileptic
function. Significant independent risk factors drugs for the treatment of epilepsy in children. Neu-
predisposing to cognitive impairment include rology Clinics, 28(4), 843–852.
Audenaert, D., Van Broeckhoven, C., & De Jonghe, P.
young age at seizure onset, symptomatic causes,
(2006). Genes and loci involved in febrile seizures
epileptic encephalopathy, and requirement for and related epilepsy syndromes. Human Mutations,
continued AED treatment (Berg et al., 2008). 27(5), 391–401.
Children with idiopathic epilepsy have the best Berg, A.T. (1995). The epidemiology of seizures and
outcomes, followed by those with cryptogenic epilepsy in children. In S. Shinnar, N. Amir, & D.
Branski (Eds.), Childhood seizures (pp. 1–10). Basel,
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epilepsy. Continued seizures, medication side Berg, A.T. (2008). Risk of recurrence after a first unpro-
effects, and depression are associated with poor voked seizure. Epilepsia, 49(Suppl. 1), 13–18.
outcomes, including reduced quality of life, Berg, A.T., & Shinnar, S. (1991). The risk of seizure
recurrence following a first unprovoked seizure: A
undereducation and underemployment, failure
quantitative review. Neurology, 41(7), 965–972.
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Mortality in epilepsy is linked to accidental (2010). Revised terminology and concepts for organi-
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Shinnar, 2010). The possible mechanisms of (1998). Seizures with fever after unprovoked seizures:
SUDEP are thought to be related to asphyxia, An analysis in children followed from the time of a
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Berg, A.T., Langfitt, J.T., Testa, F.M., Levy, S.R.,
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Berg, A.T., Shinnar, S., Hauser, W.A., Alemany,
M., Shapiro, E.D., Salomon, M.E., & Crain, E.F.
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28 The New Face
of Developmental
Disabilities
Nancy J. Roizen and Adrienne S. Tedeschi

■ Describe the effects of a silent stroke and overt stroke on children with sickle-
cell disease
■ Understand the role of cranial irradiation in the treatment of acute lymphocytic
leukemia and brain tumors and understand irradiation’s long-term effects on
cognitive function
■ Explain the impact of multidrug therapy and Cesarean section on the outcome
in mother-to-child transmission of human immuno-deficiency virus
■ Be aware of the effects of chronic kidney failure on neurodevelopment
This chapter considers a group of children with ■ ■ ■ KISHA

neurodevelopmental disabilities who repre-
sent a new phenemonon in that they are now Kisha is a teenager with SCD who was diagnosed
surviving to adulthood with diseases that were shortly after birth and treated from infancy with
previously fatal during childhood. These dis- prophylactic penicillin, specialized immuniza-
orders include sickle-cell disease (SCD), can- tions, and routine well-child care. In general,
cer, human immunodeficiency virus (HIV) and her family has been able to manage the painful
chronic kidney failure (CKF). Affected children episodes caused by the SCD at home, but once
have been found to experience “late effects” that or twice a year she has been hospitalized to
include significant disabilities as a consequence control crisis-level episodes. On one occasion
of their illness and/or its treatment. These late
she was admitted to the intensive care unit with
effects were previously unrecognized because
an episode of acute chest syndrome (see SCD
of the early death of the child, and they often
represent side effects of the aggressive therapy section), but she fortunately responded well to
required to preserve life. Many of these comor- interventions that included transfusions, antibi-
bidities affect the central nervous system (CNS) otics, and oxygen. She is monitored routinely
and emerge over time, influencing develop- using transcranial Doppler ultrasonography. So
mental trajectories. far she has had normal findings, placing her at
507
508 Roizen & Tedeschi
low risk for stroke, unlike her friend Dwayne who retinopathy (disorder of the retina), leg ulcers,
also has SCD and suffered a stroke during early and delay in physical growth and sexual matu-
childhood. Kisha will be graduating from high ration (Section on Hemotology, Oncology, and
school this year and plans to attend college. Committee on Genetics, 2002).
Patients with SCD, especially infants, also
have abnormal immune function which places
SICKLE-CELL DISEASE them at risk for bacterial infections that are a
SCD is an autosomal recessive disorder that leading cause of mortality and morbidity in this
results in the production of an abnormal disorder. This is because infections can initiate
hemoglobin, called Hemoglobin S or HbS. the cascade of sickling of red blood cells and
Red blood cells that contain predominately result in vaso-occlusive episodes with associated
HbS have a greatly limited life span, leading pain and other organ-related complications.
to chronic hemolytic (excessive breakdown of As early as 6 months of age, and usually by 5
red blood cells) anemia. In addition, the cells years of age, children with SCD have functional
become crescent or sickle-shaped in a low-oxy- asplenia, increasing the risk of infection because
gen environment and can cause blockage of the the spleen normally helps orchestrate the body’s
microvasculature, leading to severe pain in the response to infection. They are particularly at
affected limb or body organ (vaso-occlusive risk for infection from Streptococcus pneumoiae
episode). The most common and severe form and Haemophilus influenzae type B. (DeBaun &
of SCD is homozygous sickle-cell anemia Vichinsky, 2007).
(HbSS), which comprises about two thirds of Neurological complications of SCD are
all cases (Serjeant, 1999). rather common and range from headaches
SCD occurs most commonly in individu- to strokes. Among children with SCD, about
als of sub-Saharan African ancestry. Virtually all 10% (Lopez-Vincent et al., 2010; Pegelow et
states now screen newborns for SCD, which has al., 2002) will have overt strokes and almost
become the most common genetic disease iden- a quarter will have silent strokes before their
tified by state screening programs. It occurs in 18th birthday (Pegelow et al., 2002). An overt
1 out of 2,647 births, exceeding the next high- stroke involves a focal (localized) neurological
est genetic disorder, cystic fibrosis (1 out of deficit that lasts more than 24 hours. It results
3,900; see Chapter 1). SCD occurs in 1 out of from an occlusion of one of the large anterior
396 African American births, with Asian Indi- cerebral circulation vessels (DeBaun & Vich-
ans being next in frequency at 1 out of 16,000 insky, 2007). Strokes most frequently occur in
births (DeBaun & Vichinsky, 2007). the frontal lobe (59%), and usually have two or
more damaged areas (77%; Gold et al., 2008).
Clinical Manifestations In a silent stroke there is evidence of a cere-
SCD is a complex, chronic disorder that, as bral infarct on an magnetic resonance imaging
noted in the case report, is characterized by (MRI) scan, but a focal neurological deficit will
hemolysis and intermittent vascular occlusion. be absent on clinical examination. The major-
This results in chronic damage to multiple ity of silent strokes occur in the frontal lobe
body organs and acute complications that can (38%) and principally in one cortical area (75%;
rapidly become life threatening. Acute manifes- Gold et al., 2008). Strokes can occur as young
tations include bacterial sepsis (blood poison- as 1 year of age, but the highest incidence is
ing) or meningitis, recurrent vaso-occlusive between 2 and 5 years of age (Ohene-Frempong
pain crises, splenic sequestration (accumulation et al., 1998). Genetic factors may play a role
of red and white blood cells in the spleen, lead- in predisposing to stroke in SCD (DeBaun &
ing to acute anemia and increased risk of infec- Vichinsky, 2007).
tion), aplastic crisis (shutting down of the bone
marrow which normally produces white and red Developmental and Behavioral
blood cells), acute chest syndrome (a pneumo- Manifestations of Sickle-Cell Disease
nialike condition), and stroke. The long-term SCD is associated with a number of biopsy-
medical consequences of SCD include ane- chosocial risk factors for neurodevelopmental
mia, jaundice, splenomegaly (enlarged spleen), deficits. Biological factors include overt and
functional cholelithiasis (gall stones), restric- silent strokes, anemia, and insufficient oxygen
tive lung disease, pulmonary hypertension, and glucose delivery to CNS tissue. Children
avascular necrosis (destruction of bone from born to mothers with SCD are also at increased
microvascular occlusion) of the hip or shoulder, risk for preterm birth and perinatal problems,
The New Face of Developmental Disabilities 509
including infections (Schatz & McClellan, was measured by MRI scans, higher IQs were
2006). In addition, a disproportionate number found in those children with more grey matter
of children with SCD are born into families (Chen et al., 2009).
who are in a low socioeconomic status (SES) The impact on families of having a child
and have fewer financial resources to assist in with SCD shares many features with families
the care of this chronic, disabling disease. who have children with other severe neurode-
About one quarter to one third of children velopmental disabilities. Social-environment
with SCD have some type of developmental factors related to low SES; concerns about social
disability, most frequently affecting the cogni- stigma; and recurrent, unpredictable medical
tive and academic domains (Schatz & McClel- complications contribute to a high level of fam-
lan, 2006). Children with overt stroke, on ily stress (Schatz & McClellan, 2006). Despite
average, have a 10–15 point drop in IQ scores the increased support provided by extended
from prestroke levels (Schatz & McClelland, family networks in the African American com-
2006; Wang et al., 2001), while silent strokes munity (Radcliffe et al., 2006), the increased
impart a milder degree of cognitive impair- prevalence of poverty, limited access to quality
ment (Armstrong et al., 1996). But even with- health care, poor housing, lower quality schools,
out stroke, cognitive testing generally reveals and undernutrition in this population can nega-
lower overall cognitive function, with uneven tively affect family, parent, and child functioning
abilities (Schatz et al., 2004). Although cogni- (Evans 2004; McLoyd, 1998). In addition, pain,
tive patterns are not consistent across all stud- infection, and other medical complications lead
ies, most show that measures of attention and to a substantial amount of school absenteeism.
executive function (cognitive tasks related to Children with SCD are absent from school an
taking in, organizing, processing, and acting average of 26 days per year, compared to 16 days
on information) are adversely affected, leading per year in children with other chronic diseases
to an attention-deficit/hyperactivity disorder and fewer than 7 days per year in typical children
(ADHD) picture (Schatz et al., 2001; Schatz & (Eaton et al., 1995).
McClelland, 2006). Behavior problems in youth with SCD are
Studies demonstrate contributions to defi- also increased. Externalizing behavior problems
cits in developmental functioning from both are increased (e.g., aggression, oppositional defi-
biologic and social factors. Neurocognitive ant disorder, conduct disorder), although less so
functioning through the first year of life, as mea- in children with higher baseline IQs (Thompson
sured by tests of infant development, generally et al., 2003). Additionally, depression is more
falls within the typical range (Thompson et al., common compared to physically healthy peers.
2002). Infants with moderate to high severity Children with SCD have higher rates of moder-
SCD, however, do show developmental delays ate to severe depression symptoms (20%) com-
even at this early age (Hogan et al., 2006). By 24 pared to peers with other chronic illnesses such
months of age, average scores of children with as diabetes mellitus (8%) and cystic fibrosis (7%),
SCD in motor development are maintained, but although similar to those with asthma (21%; Key
delays become measurable on the Mental Devel- et al., 2001). A longitudinal study of social func-
opmental Index (MDI) of the Bayley Scales of tion, however, revealed no significant differences
Infant and Toddler Development. Lower MDIs in measures of friendship or social acceptance
are found in children with increased biomedi- when compared with peers (Noll et al., 2010).
cal and parenting risk factors (Thompson et al.,
2002). Meta-analysis reveals that even children Treatment and
with no evidence of a cerebral infarct have small
Management of Sickle-Cell Disease
but detectable decrements on IQ measures over
time (4–5 point difference overall; Schatz, Finke, All newborns are now screened for SCD as
Kellett, & Kramer, 2002). part of state newborn screening programs. The
In measures of specific abilities, attention results of a 15-year, multicenter natural history
and executive function generally appear more study of SCD have led to the use of prophy-
sensitive to cognitive decrements than IQ scores lactic penicillin to prevent bacterial infections
(Schatz et al., 2002). Anemia severity predicts from birth. This has dramatically decreased
general cognitive ability, with a greater impact the risk of early death from bacterial sepsis in
on children of higher SES (Schatz et al., 2004). affected children (DeBaun & Vichinsky, 2007;
When school-aged children with SCD who had Falletta et al., 1995). Many new treatment
not sustained silent or overt strokes were divided options are now directed at decreasing sickling
into high and low IQ groups and grey matter and its complications including bone marrow
transplantation and hydroxyurea therapy (Ian- children, pneumococcal immunization, red cell
none et al., 2003; Kratovil et al., 2006). Health transfusions for selected patients, hydroxyurea
maintenance includes regularly scheduled visits therapy to stimulate the production of non-
to the doctor, immunizations (including pneu- sickling fetal hemoglobin, parental and patient
mococcal vaccines), documentation of spleen education, and, above all, treatment at com-
size, and baseline blood cell counts. The family prehensive SCD centers have all contributed to
needs ongoing education regarding the urgency improved longevity. Earlier data reported that
for prompt evaluation and treatment of febrile half of individuals with SCD did not survive
illnesses and the acute complications that can beyond 20 years of age; now the vast majority
cause morbidity and mortality. Anticipatory (94%) of children with sickle-cell anemia and
guidance includes a discussion of the need to nearly all (98%) with milder forms of SCD live
avoid temperature extremes and to maintain to become adults (Quinn, Rogers, McCavit, &
adequate hydration. Parents also need to know Buchanan, 2010). Even with this great improve-
initial home treatment steps for pain and pria- ment in mortality, there are geographic dis-
pism (painful and long-lasting penile erection) crepancies. Wang et al. (2011) have developed
and the indications for urgent evaluation (Sec- quality-of-care indicators to provide a starting
tion on Hematology/Oncology and Committee point for quality improvement efforts.
on Genetics, 2002).
Effective management of painful episodes
requires a collaborative management plan CANCER: ACUTE LYMPHOCYTIC
between the family and the multidisciplinary LEUKEMIA AND BRAIN TUMORS
medical team. Pain management includes the
titration (incremental increase and decrease) About 1–2 children per 10,000 develop cancer
of potentially addicting medication. Early in each year in the United States. In 2001, approx-
the course of managing, comfort measures imately 8,600 children were diagnosed with
such as heating pads, and medications such as cancer, and about 1,500 died from the disease.
ibuprofen and acetaminophen, are used. This The most common cancers in children are leu-
is followed by acetaminophen with codeine kemias (blood cell cancers) and central nervous
and short- or long-acting opiods or morphine system (CNS) tumors, which together account
derivatives. Severe painful episodes, however, for more than half of all the new cases. Leu-
require hospitalization and the use of intrave- kemia accounts for about one third of all new
nous morphine. Patients with multiple pain epi- cases of cancer; and acute lymphocytic leukemia
sodes requiring hospitalization within 1 year or (ALL) accounts for approximately three quar-
with hospital stays of longer than 7 days should ters of all leukemia cases. CNS cancers are the
be evaluated for comorbidities and psychosocial second most common childhood malignancy
stressors that may aggravate pain crises. and account for about 20% of childhood can-
Any acute neurology symptom such as cers (Ries et al., 2005). This chapter will limit
hemiparesis, aphasia, seizures, severe headache, the discussion on developmental disabilities in
cranial nerve palsy, stupor, or coma requires cancer to leukemia and brain tumors, although
urgent evaluation for stroke. Strokes are treated many of the principles apply to other cancers in
acutely with oxygen and blood transfusion children (Barrera, 2005; Bonneau et al., 2011).
therapy to increase hemoglobin levels. Primary
stroke prevention using transcranial Doppler Clinical Manifestations
(TCD), which assesses blood velocity in cere- Approximately 2,000 children under 15 years of
bral arteries, has been shown to decrease the age are diagnosed with ALL in the United States
incidence of overt stroke by 90% (Enninful- each year. ALL occurs more frequently in boys
Eghan et al., 2010). When low velocity is found, than girls and has a peak incidence between 2–6
prevention of stroke is accomplished by blood years of age. The etiology is unknown, but it
transfusion therapy aimed at keeping the HbS is associated with both genetic disorders (e.g.,
concentration low, thereby decreasing sickling. Down syndrome) and environmental factors
(e.g., irradiation). The clinical presentation
Outcome of ALL is usually nonspecific with anorexia,
As a result of early identification and the use of fatigue, bone pain, and irritability often asso-
disease-modifying therapies, the life expectancy ciated with an intermittent, low-grade fever.
of children with SCD has significantly increased. The child appears listless and pale, often with
Neonatal screening, penicillin prophylaxis for purpuric skin lesions. The diagnosis is usually
suggested by an abnormal peripheral blood chemotherapy, which lasts for 2–3 years. About
count showing immature malignant blast cells, 15%–20% of children have a relapse in the
which is followed by a bone marrow aspiration bone marrow and less commonly in the CNS
to establish the definitive diagnosis (Tubergen or testes (Tubergen & Bleyer, 2007). Bone mar-
& Bleyer, 2007) row transplantation may be part of the treat-
The incidence of childhood brain tumors is ment regimen if there is a relapse.
highest in infants and young children (< 7 years Outcomes for children with brain tumors
of age), with a male predominance for medul- have improved with innovations in neuro-
loblastomas (cerebellar tumors) and ependy- surgery and radiation therapy as well as the
momas (tumors developing from cells that line introduction of effective chemotherapy. The
both the hollow-cavities on the ventricles of the foundation of treatment is complete surgical
brain and the canal containing the spinal cord). resection, if feasible, with radiation therapy
The etiology of pediatric brain tumors is not and chemotherapy used depending on the diag-
well defined. About 5% of cases are associated nosis, patient age, and other factors (Kuttesch
with familial and hereditary syndromes (Kut- & Ater, 2007). Multidisciplinary approaches
tesch & Ater, 2007). The clinical presentation include seizure management, physical therapy,
depends on the tumor location, tumor type, and endocrine management with growth hormone
the child’s age. Subtle changes in personality, and thyroid replacement, tailored educational
mentation, and speech may precede the clas- programs, and vocational intervention, all
sical symptoms of a brain tumor, which include depending on the individual needs of the child
persistent and severe headache and vomiting. (Kuttesch & Ater, 2007).
Young children with open cranial sutures can The treatment of both ALL and brain
present with irritability, lethargy, vomiting, and tumors is associated with adverse effects on
increased head size. Others can present with healthy tissue in the CNS. ITC, especially
disorders of equilibrium, gait, and coordination methotrexate, has been associated with acute
(Kuttesch & Ater, 2007). Evaluating a child sus- white matter (the part of the brain with mainly
pected to have a brain tumor is an emergency; nerve fibers) injury, and persisting decreased
it includes a history, physical examination, oph- white matter volumes have been associated with
thalmological examination, and MRI scan of IQ declines (Hudson, 1999; Janzen & Spiegler,
the brain (Kuttesch & Ater, 2007). 2008; Zhang et al., 2008). Many of the acquired
neurocognitive and psychological disturbances
Treatment associated with the treatment of ALL and brain
The goal of ALL treatment is to minimize the tumors are similar to those found in children
adverse late effects, while maintaining high sur- who suffer from ADHD and traumatic brain
vival rates. Most children are treated according injury. Initial studies indicate some success
to a national clinical trial protocol where the using a cognitive remediation program (CRP)
initial phase involves induction of remission, in which the child is guided through exercises
achieved by eradicating leukemic cells from the that promote sustained, selective, divided, and
bone marrow. The second phase is CNS pro- executive attentional control (Butler et al.,
phylactic treatment to prevent relapses (Tuber- 2008; Sohlberg & Mateer, 1986). Treatment
gen & Bleyer, 2007). This approach has been with stimulant medication has also improved
largely responsible for the increase in long- performance on tests of attention and on par-
term survival for children with ALL because ent and teacher reports (Butler, Copland, et al.,
the CNS is a sanctuary for leukemic cells. Ini- 2008; Butler, Sahler, et al., 2008; Conklin et al.,
tially, cranial radiation therapy (CRT) was used 2010; Mulhern et al., 2004; Netson et al., 2011).
to prevent relapse, but studies determined that
CRT was associated with significant declines Development and Behavior
in IQ scores among survivors of childhood Early studies of survivors of childhood ALL
ALL (Cousens et al., 1988). As a result, CRT determined that cranial radiation therapy
is now reserved for high-risk subgroups or for was associated with declines in intelligence
CNS relapse (Butler & Haser, 2006). CRT has (Cousens et al., 1988). They also reported more
largely been replaced by intrathecal chemo- impairment in non dominant hemisphere func-
therapy (ITC; infusion of medication within tions, shortened attention spans, poor concen-
the space surrounding the spinal cord; Butler & tration, increased distractibility, and impaired
Haser, 2006). After remission has been induced, school performance especially in arithmetic
most children enter a maintenance phase of computation (Butler & Haser, 2006). Studies
of chemotherapy-only treatment for childhood it is about 65% for a medulloblastoma and less
ALL also indicate a specific pattern of neu- than 10% for a brainstem glioma (Butler &
ropsychological late effects. Although verbal Haser, 2006).
subtests are not significantly different between Children who have undergone cancer
the groups, perceptual reasoning skills, work- treatment are more likely than the general pop-
ing memory, and processing speed are affected ulation to repeat a grade in school and/or need
in the chemotherapy-only group. The result more learning supports and special education
is that academic progress in both reading and services. Compared to their typically develop-
math is impaired. Girls are at greater risk for ing peers, children treated for brain tumors are
these effects than boys (Peterson et al., 2008). 4 times as likely to repeat a grade, and those
Children who experience relapses have poorer receiving cerebral irradiation are 2.5 times as
neurocognitive outcomes, with 20% displaying likely (Barrera, 2005). Other risk factors for
IQ scores in the range of intellectual disability repeating a grade include attending secondary
(Janzen & Spiegler, 2008). school at the time of diagnosis, low education
Studies in children treated in the level of father, and requiring school-organized
1970s–1990s for CNS tumors with surgery and educational support on return to school (Bon-
CRT reported declines in intellectual function neau et al., 2011). Compared with siblings, sur-
and academic achievement (Butler & Haser, vivors of leukemia and CNS tumors were less
2006). In a study of 120 children treated with likely to finish high school, but only those with
surgery and CRT for medulloblastoma, 42% CNS tumors were also less likely to complete
had a full-scale IQ of less than 80 at 5 years fol- college (Mitby et al., 2003).
lowing treatment, and 75% had a full scale IQ Compared with healthy controls, adult
of less that 80 at 10 years following treatment survivors of childhood cancers are nearly twice
(Hoppe-Hirsch et al., 1990). Commonalities as likely to be unemployed, with those with
that emerged included deficits in all the follow- CNS or brain tumors being nearly 5 times
ing areas: memory, attention/concentration, more likely to be unemployed. Additional
sequencing, processing speed, visual perceptual predictors of unemployment are younger age,
ability, and language. lower education level or intelligence quotient,
Children with brain tumors who require female gender, motor impairment, epilepsy, and
only surgical treatment can have a range of radiotherapy (de Boer et al., 2006).
outcomes. Surgery may result in global intel- Minimizing the adverse late effects of
lectual ability remaining intact but with deficits childhood cancers while maintaining high sur-
in selected domains. This can affect a single vival rates with treatment is a goal that has been
domain motor functioning, e.g., benign cere- largely achieved in treatment regimens for ALL
bellar tumors; Steinlin et al., 2003), or multiple but less so for brain tumors. Improvements in
domains (cognitive, academic, social adaptive, therapy have greatly decreased mortality and
and motor functioning, e.g., cerebellar astro- morbidity, but more advances are needed to
cytomas; Beebe et al., 2005). In addition, more achieve optimal neurocognitive outcomes.
than half of children with brain tumors that
are treated surgically experience some form of
significant psychological adjustment problem
HUMAN
such as depression, externalizing behaviors, and IMMUNODEFICIENCY VIRUS
academic problems (Meyer & Kieran, 2002). HIV is a viral infection transmitted by 1) sexual
In childhood survivors of both ALL and brain contact; 2) blood exposure from contaminated
tumors, risk factors for increased neuropsy- needles; 3) mucous membrane exposure to con-
chological dysfunction include younger age at taminated blood or bodily fluids; 4) mother-to-
developing the disease and being female (Butler child transmission during pregnancy, mainly
& Haser, 2006). around the time of labor and delivery, or
through breast feeding; and 5) contaminated
Outcomes blood products (Committee on Infectious Dis-
Because of advances in treatment, the mortal- eases, 2009). When an HIV infection manifests
ity rate for ALL dropped by half between 1975 as a severe clinical condition, it is called AIDS
and 1995. Presently, the overall survival rate (acquired immunodeficiency syndrome). In the
for children with ALL is nearly 80% (Butler United States, AIDS has gone from being a rap-
& Haser, 2006). For CNS cancers, the survival idly fatal disease for children who acquired the
rates vary greatly depending on the tumor type; virus by vertical transmission to one in which
HIV vertical transmission is prevented in 98% One major medical factor affecting devel-
of cases (Centers for Disease Control and Pre- opment in vertically infected infants and chil-
vention, 2006). This has been accomplished via dren is HIV-related encephalopathy. It can
two ways: 1) treating HIV-infected pregnant present with a number of profiles. One type,
mothers and their newborn infants with ART labeled subacute progressive encephalopathy,
(antiretroviral treatment) regimens, and 2) pre- is characterized by a gradual and insidious loss
venting vertical transmission to infants born to of previously obtained cognitive and motor mile-
HIV-infected mothers by C-section deliveries stones. Although this loss of skills may stabilize
and complete avoidance of breastfeeding (Com- for a time, usually new losses are subsequently
mittee on Infectious Diseases, 2009). In the 100– appreciated (Armstong et al., 1993; Brouwers et
200 children per year in the United States who al., 1994; Simpson & Berger, 1996). A second
do develop an HIV infection via vertical trans- type includes children with plateau progressive
mission, the disease is now managed as a chronic encephalopathy who, while not progressing
illness with survival well into late teen and early in their development, may not show deteriora-
young adult years (McConnell et al., 2005). tion for a lengthy time period. Nevertheless,
Rates of HIV infection in adolescents, however, they eventually deteriorate. A third type is static
continue to increase, primarily through sexual encephalopathy that is characterized by sig-
exposure. Fourteen percent of newly diagnosed nificantly delayed development, with new skills
cases of HIV infection in the United State occur acquired at a slower rate than is typical. These
among people 13 to 24 years of age (Committee children have cognitive skills in the low-average
on Infectious Diseases, 2009). to impaired range (Armstrong et al., 1993;
Brouwers et al., 1994). A final subset displays a
Clinical Manifestations relatively mild neurocognitive deficit with aver-
age overall intellectual functioning but specific
Most newborns with HIV have a normal exami-
learning, language, and visual-motor deficits
nation despite being infected with HIV. When
(Armstrong et al., 1993).
disease symptoms develop later in infancy they
Research in the cognitive development
include enlargement of lymph glands, liver,
of children with HIV infection is problem-
and spleen; poor weight gain; diarrhea; pneu-
atic in comparability of studies (Sherr et al.,
monia; and thrush (a fungal infection com-
2009); however, of the 54 studies with control
monly involving the mucous membranes of
groups, 81% reported a detrimental effect on
the mouth). Symptoms found more commonly
neurocognitive development, 3 showed no dif-
in children than in adults with AIDS include
ferences, and 4 had mixed findings. In a study
recurrent bacterial infections, chronic swell-
of the development of 175 children with HIV
ing of the parotid (the salivary gland beside
infection (Nozyce et al., 2006), on the Wechsler
the ear), lymphocytic interstitial pneumonia
Intelligence Scales for Children III, the average
(LIP), and progressive neurologic deterioration
scores were Verbal IQ of 85, Performance IQ
(Yogev & Chadwick, 2007).
of 90, and Full-Scale Score of 86. In another
Development and study of 85 HIV-infected school-aged children,
the mean developmental quotient (DQ) was 85,
Behavior in Children with with 12% of the group having a DQ of less than
Human Immunodeficiency Virus 70. Of the 85% children in public schools, three
There are multiple factors that determine the quarters were in the appropriate grade level for
consequences of HIV infection including the their age, but 56% required some special edu-
viral load (amount of virus present in the body), cation services (Mialky et al., 2001).
the age of the child at the time of the infec- A large study (n = 274 children; Nozyce et
tion, the clinical symptoms at time of diagnosis, al., 2006) of the behavioral and cognitive profiles
and treatment (Armstrong & Mulhern, 1999; of clinically and immunologically stable antiret-
Corscia et al., 1997; Mintz, 1999; Mitchell, roviral treated HIV-infected children who were
2001; Willen, 2006). These biomedical fac- 2–17 years of age revealed that over half had more
tors are also confounded by biosocial factors than one behavior problem on the Conners Par-
including prenatal drug exposure, malnutrition, ent Rating Scale. The most common behavior
prematurity, poverty, neglect, family stress asso- problems were psychosomatic symptoms (28%),
ciated with death or illness of the primary care- learning deficits (25%), hyperactivity (20%),
giver, and the presence of other developmental impulsive-hyperactive behavior (19%), conduct
disabilities associated with AIDS (Armstrong et disorder (16%), and anxiety (8%). In children
al., 1993; Coscia et al., 2001). older than 9 years of age compared with younger
children, anxiety problems were more com- In developing countries, where most HIV-
mon. There was no difference in the occurrence infected children are born, ART and sophis-
of behavior problems in HIV-infected children ticated diagnostic testing are not available. In
and in HIV-exposed (in utero) children. In both these countries, the prognosis is worst in chil-
groups there was no association with HIV infec- dren with HIV who have opportunistic infec-
tion or prenatal drug exposure, but biological tions, encephalopathy, or wasting syndrome.
and environmental factors were thought to be These children have a mortality rate of 75%
important (Mellins et al., 2003). before 3 years of age. Those children with per-
Children with HIV face unique challenges sistent fever and/or oral thrush, serious bacterial
and barriers to care due to the stigma associated infections (e.g., meningitis, pneumonia, sepsis),
with the illness. While confidentiality rules may hepatitis, and persistent anemia and thrombo-
protect children with HIV from undue stigmati- cytopenia (low platelet count) also have a poor
zation, they may also prevent access to necessary prognosis, with more than 30% dying before 3
services, particularly school-based interven- years of age (Yogev & Chadwick, 2007).
tions. In addition, caregivers may choose not to In children treated with ART, morbidity is
disclose to the child his or her HIV diagnosis. greatly improved. Chiriboga et al. (2005) have
This may especially happen with vertical trans- demonstrated a decrease in active progressive
mission when the mother may want to protect encephalopathy from 31% in 1992 to 1.6% by
her own as well as her child’s confidentiality 2000. Of the 13 children with arrested progres-
(Inston, 2000; Mialky et al., 2001). Yet, studies sive encephalopathy in his cohort of 126 peri-
indicate that children who are told about their natally infected children treated with ART, 6
HIV status generally exhibit better adjustment out of 9 children with microcephaly had resolu-
(Steele et al., 2007) or, at least, have no adverse tion, 8 out of 12 with delays in cognitive func-
change in quality of life post disclosure (Butler tion had improved cognitive function, and of
et al., 2009). The average age of disclosure is the 10 children with spastic diparesis (weakness
reported to be between 9 and 11 years of age or paralysis of lower extremities) or hypotonic
(Mialky et al., 2001; Butler et al., 2009). Also, diparesis, 2 improved sufficiently to no longer
appropriate disclosure outside the immediate meet criteria for this diagnosis.
family has been found to benefit the child in In sum, treatment with ART now prevents
psychological and physical health (Steele et al., vertical transmission in the vast majority of
2007). cases involving HIV-infected pregnant women.
For infected infants and children, ART has con-
Treatment and Outcomes verted HIV from a fatal infection to a chronic
Pizzo et al. (1988) documented the response of condition and has markedly decreased morbid-
AIDS encephalopathy to antiretroviral therapy ity. However, long-term survivors still have
in children. This eventually led to the era of neurodevelopmental deficits that require care-
highly active antiretroviral therapy (HAART) ful follow-up and therapeutic interventions.
or simply ART, which has greatly decreased the
mortality and morbidity associated with perina- CHRONIC KIDNEY DISEASE
tally acquired HIV infection (Gortmaker et al.,
2001; de Martino et al., 2000). A good prognosis Chronic kidney disease (CKD), also known
is related to sustained suppression of the blood as chronic renal disease, is a progressive and
viral load and a high CD4 lymphocyte count, a irreversible loss of renal (kidney) function that
marker for immune competence to help fight occurs over a period of months to years depend-
the infection (Yogev & Chadwick, 2007). In ing on the disease’s underlying cause. CKD
infants and toddlers, those with lower neuro- occurs in stages based on the severity of renal
psychological functioning (MDI on the Bayley function impairment, with Stage 1 represent-
Scales of Infant and Toddler Development of ing normal glomerular filtration rate (a mea-
less than 70) had a higher risk for later dis- sure of kidney function) and Stage 5 reflecting
ease progression (56%) than did those with IQ very poor to no kidney function. Stage 5 is also
above 90 who had a risk of progression of 18% referred to as kidney failure or end stage renal
(Pearson et al., 2000). ART has also decreased disease (ESRD).
the annual mortality rate in HIV-1-infected There is little known about the CKD’s
children and adolescents in the United States progression in children during early stages and
from 5.3% in 1996 to 0.7% in 1999 (Gortmaker its effect on neurodevelopment and cognitive
et al., 2001). function. In order to answer these questions a
longitudinal natural history study is being per- stages of CKD (Stages 1 and 2) but become
formed, the Chronic Kidney Disease in Children increasingly symptomatic as renal function
(CKiD) Study. This prospective, observational deteriorates. Children may present with poly-
cohort study of 540 children aged 1–16 with uria (excessive passage of urine), oliguria
mild to moderate CKD (enrollment occurred (decreased passage of urine), anuria (absence of
over a 2-year period beginning in 2006) are urine), edema (abnormal accumulation of fluid
being followed annually until initiation of renal in body tissues), hypertension (elevated blood
replacement therapy is required. This study pressure), hematuria (blood in urine), and/or
was designed to 1) identify novel risk factors for proteinuria (protein in urine).
CKD progression; 2) understand the impact of Children may be diagnosed prenatally via
kidney function decline on growth, cognition, ultrasonography or postnatally through abnor-
and behavior; and 3) document the evolution of malities on urinalysis or elevation in serum
cardiovascular disease risk factors (Furth et al., creatinine concentration (a product produced
2006). The longitudinal data to be collected will by muscle tissue and normally filtered from the
be used to compare the rate of decline in kid- blood by the kidney). Signs and symptoms of
ney function to changes in neurocognitive func- uremia (accumulated urinary waste products
tion, blood pressure, fasting lipids, and rates of in the blood) begin to appear in some chil-
growth; such data should help to improve under- dren with Stage 3 disease and become increas-
standing of this complex disease. ingly prevalent in Stages 4 and 5 ESRD. These
In children, CKD can result from congen- symptoms of severe renal impairment include
ital (present at birth) causes, acquired diseases, anorexia (loss of appetite), vomiting, weakness,
and genetic disorders. The incidence and prev- fatigue, and deficits in neurocognitive function
alence of CKD in the U.S. pediatric population (Vogt & Avner, 2007).
is unknown as epidemiological information is Many complications of CKD result from
limited and imprecise. The 2010 Annual Data impaired kidney functions. Fluid and elec-
Report published by the United States Renal trolyte imbalances result when the kidney is
Data System (USRDS) reported the pediatric unable to moderate sodium and water amounts
incident rate of ESRD to be 15 per million pop- in the body. Metabolic acidosis and elevations
ulation, or affecting about 7,000 children ages in potassium (hyperkalemia) occur when the
0–19 years in the U.S. Nearly twice as many kidneys are unable to remove enough acid or
boys as girls have CKD, the result of the higher potassium from the blood.
incidence in males of congenital disorders The presence of acidosis results in
including obstructive uropathy (a pathologic decreased growth, as the body breaks down
condition that blocks urine flow), renal dyspla- bone to neutralize the acid. Bone structure is
sia (small, abnormal kidneys), and Eagle Bar- further affected by metabolic bone disease
rett (formerly “prune belly”) syndrome. Eagle (MBD, formerly called renal osteodystrophy),
Barrett syndrome involves three main prob- which results from abnormalities in calcium,
lems: 1) poor development of the abdominal phosphorous, vitamin D, and parathyroid hor-
muscles, causing the skin of the stomach area mone. Anemia results from decreased produc-
to wrinkle like a prune; 2) undescended testicles tion of erythropoietin by the kidney and is
(cryptorchidism); and 3) urinary tract problems associated with decreased exercise tolerance,
(Warady & Chadha, 2007). Compared to Cau- weakness, and fatigue. Cardiovascular compli-
casian children, the incidence rate of ESRD is cations include hypertension, left ventricu-
3.6 times higher in African American children, lar hypertrophy (Mitsnefes et al., 2003), and
1.8 times higher in Native American children, abnormal lipid metabolism. Growth impair-
and 1.8 times higher in Hispanic children ment results from metabolic acidosis, anorexia,
(USRDS, 2010). increased caloric requirements due to chronic
illness, metabolic bone disease, and abnormali-
Clinical Manifestations ties in growth hormone metabolism (Vogt &
The clinical manifestations of CKD are varied Avner, 2007).
and relate to the underlying cause of the renal
disease and the severity of impairment. As CKD Neurodevelopment and Behavior
progresses, the kidney is no longer able to bal- Children with CKD are at increased risk for
ance electrolytes, filter waste products from the alterations and delays in neurocognitive devel-
blood, and regulate blood pressure. Children opment. Historically, the outcomes of infants
are generally asymptomatic during the early and toddlers with CKD were poor, with high
rates of mortality and morbidity (Gerson et al., similar findings, with parent and child reporting
2006; Madden et al., 2003; Qvist et al., 2002). lower health-related quality of life and poorer
The aggressive treatment of malnutrition, physical, social, emotional, and school function-
hypertension, and anemia, plus the elimina- ing as compared with healthy youth.
tion of aluminum-containing compounds to
bind phosphate in hemodialysis, are believed to Treatment and Management
have resulted in a decrease in the neurological
sequelae of CKD (Gerson et al., 2006; Gipson Care of the child with CKD includes efforts to
et al., 2006); nevertheless, children with CKD slow progression of kidney failure, correction
remain at risk for neurodevelopmental delay of metabolic disturbances intrinsic to CKD,
(Warady et al., 1999). provision of nutritional and hormonal support
Madden et al. (2003) reported on the cog- for growth failure, and preparation for renal
nitive development of 16 surviving children replacement therapy (Noe & Jones, 2007).
from a cohort of 20 who developed ESRD Strategies to protect the kidney (renoprotec-
requiring chronic hemodialysis prior to 1 year tive therapy) include controlling hypertension
of age. The mean IQ was 86, but with scores with dietary changes (salt and fluid restriction)
ranging from 50–102 (Madden et al., 2003). and pharmacotherapy (diuretics and antihyper-
Gipson et al. (2006) reported similar intellec- tensive medication). Correction of anemia with
tual function (mean IQ of 89) in a group of 20 iron supplementation and recombinant human
children and adolescents with CKD undergo- erythropoietin may result in decreased fatigue
ing dialysis or managed with conservative ther- and increased exercise tolerance, cardiovascular
apy. When compared to a typically developing improvement, and better neurocognitive out-
group, Gipson’s cohort demonstrated signifi- comes (Vogt & Avner, 2007).
cantly lower IQ, memory difficulties, and prob- When a child reaches ESRD, renal
lems with executive functioning. Duquette et al. replacement therapy must be initiated. The
(2007) examined the intellectual and academic ultimate goal for the vast majority of children
functioning of 30 children and adolescents with with ESRD is successful kidney transplantation;
CKD and found that the control group out- however, when preemptive transplantation is
performed the CKD group on Full Scale IQ not an option, peritoneal dialysis or hemodialy-
(FSIQ), Verbal IQ, Performance IQ, as well as sis is chosen based on on family preference and
Word Reading and Math Reasoning scores as on technical, social, and compliance issues.
measured by the Weschler Abbreviated Score
of Intelligence (WASI) and Weschler Individual Outcome
Achievement Test—Second Edition (WIAT-
II). In addition, the percentage of full-scale IQ There is no cure for CKD, and the progressive
scores falling below the 25th percentile was loss of kidney function will generally result in
57% in the CKD group as compared with 15% the development of ESRD during childhood
in the control group. or early adulthood. Improvements in the treat-
While academic achievement is adversely ment of CKD (including renoprotective thera-
affected by cognitive deficits and school pies, tight control of blood pressure, improved
absences, the prevalence of youth with CKD dialysis techniques, correction of anemia and
receiving special education services (6%–21%) metabolic disorders, and aggressive nutrition
is similar to U.S. national data (Gerson et al., supplementation) have resulted in improved
2006). Studies reporting higher numbers of neurocognitive function and slowed renal dis-
children with CKD receiving special education ease progression.
services have included children with comor-
bidities (prematurity, genetic syndromes) or SUMMARY
were conducted prior to recent improvements
in medical care. Through life-saving interventions, children
Not surprising, children with ESRD and with SCD, cancer, HIV, and chronic renal fail-
their parents report lower health-related qual- ure are largely surviving to adulthood. These
ity of life across all domains including physical diseases that were previously considered fatal
health, psychosocial health, emotional function- now have shifted to the level of a chronic disease.
ing, social functioning, and school functioning Due to rapid medical advances, children surviv-
when compared to their healthy peers (Goldstein ing with these illnesses today are very different
et al., 2006). Gerson et al.’s (2010) study of 402 from those who survived even 10 years ago. In
children with mild to moderate CKD reported addition, continued innovations are leading
to improved treatment and outcomes (Table REFERENCES

28.1). However, all of these children remain
at increased risk for the spectrum of develop- Armstrong, F.D., & Mulhern, R.K. (1999). Acute lym-
mental disabilities resulting from their primary phoblastic leukemia and brain tumors. (pp. 47–77). New
York, NY: Guilford Press.
disease and/or complications and side effects of
Armstrong, F.D., Seidel, J.F., & Swales, T.P. (1993).
treatment. Interventions for their developmen- Pediatric HIV infection: A neuropsychological and
tal problems as well as for their chronic diseases educational challenge. Journal of Learning Disabilities,
can enable them to lead productive lives. 26, 92–103.
Table 28.1. Innovations in treatment

Neuro/developmental Recent interventions
Disease/frequency problems will improve outcomes
Sickle cell disease Strokes, biopsychosocial 1) Hydroxyurea treatment (Rx)—has changed the face
1: 2,647 births; risk, attention-deficit/ of this disease, daily oral nontoxic Rx yields dra-
1: 396 African hyperactivity disorder, matic decreases in occurrence of pain, acute chest
American births executive function syndrome, and hospitalizations
2) Transcranial doppler ultrasound screening of
cerebral vessels beginning at age 2–3—identifies
subgroup at high risk for stroke—leading to chronic
transfusion Rx which yields a dramatic decrease in
stroke occurrence
3) Bone marrow transplant—curative
Acute lymphocytic Perceptual reasoning 1) Escalating-dose intravenous methotrexate has

leukemia (ALL) skills, working memory, improved the event-free survival of children
annual incidence: processing speed, with ALL
3.5: 100,000 intellectual disability 2) High-dose intravenous methotrexate was superior
(20%) to intermediate dose for children with high-risk ALL
Brain tumors Deficits in memory, 1) Improvements in neuroimaging and neurosurgi-

annual incidence: sequencing, processing cal techniques have resulted in better staging of
28: 1,000,000 speed, visual percep- patients and better outcomes for some types of
tual ability, language tumors
skills 2) Creation of multidisciplinary neuro-oncology
centers
3) Institution of and improvement in multi-institutional,
cooperative group clinical research trial design and
implementation allows for the definition of “stan-
dard of care” therapy via evidence based data.
4) An explosion of basic research identifying molecu-
lar fingerprints for various types of pediatric brain
tumors hopefully will change approaches and
improve outcomes
Human immunodefi- Patterns of develop- 1) Recognition of the role of heightened inflammation

ciency virus (HIV) mental progres- and immune activation in HIV and their key role
100–200 births/year sions: gradual loss of in HIV comorbidities (cardiovascular disease and
in USA milestones, plateauing malignancies) and mortality
of development, devel- 2) Recognition of the high prevalence of persistent
opmental delays with central nervous system infection with HIV and low
static encephalopathy, grade dementia
mild neurocognitive 3) Potent HIV cocktail regimens leading to mainte-
delays nance of virologic suppression for more than a
decade and decrease in mortality and morbidity
Chronic kidney disease Memory difficulties, 1) Recognition of the presence of masked hyperten-
(CKD) executive function sion and provision of more aggressive treatment
annual incidence: deficits, full scale 2) Recognition of the role of vitamin D in bone and
15: 1,000,000 IQ <25th percentile cardiovascular health with improved interventions
in 57% of children and outcomes
3) Recognition of the early development of atheroscle-
rosis and the need to institute measures to control
calcium and phosphorous balance
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29 Behavioral and
Psychiatric Disorders in
Children with Disabilities
Adelaide Robb

■ Understand that individuals with developmental disabilities have a relatively
high prevalence of psychiatric disorders
■ Be able to describe the types and symptoms of psychiatric disorders among
people with developmental disabilities
■ Be able to discuss interventions in children who have a dual diagnosis of a
developmental disability and a psychiatric disorder
Children with developmental disabilities mani- of a psychiatric disorder and obtain early assess-
fest the same range of psychiatric illnesses that ment, diagnosis, and treatment. This chapter
typically developing children do, but they may addresses the identification and treatment of
also face psychiatric illnesses specific to their behavioral and psychiatric disorders in children
disorder. The presence of a developmental dis- with disabilities; it also discusses developmental
ability, especially intellectual disability, often transitions and their effect on behavior.
alters the symptomatic presentation of psychi-
atric disorders and makes accurate diagnosis ■ ■ ■ WILLIAM
more difficult. Recognition of these problems
in children with “dual diagnoses” (i.e., a devel- William, age 15, has Asperger’s Disorder, atten-
opmental disability and a psychiatric disorder) tion-deficit/hyperactivity disorder (ADHD), and
is crucial for caregivers. When these psychi- obsessive-compulsive disorder (OCD). He was
atric disorders go unrecognized or untreated, in a special educational setting for high school
affected children can fail in educational and students with Asperger’s Disorder and was
social settings, be unmanageable at home, and being treated with two antipsychotic medica-
show aggression and self-injury. These comor-
tions (risperdal and quetiapine), a mood stabi-
bid conditions may ultimately determine the
lizer (valproate), a stimulant (methylphenidate),
child’s outcome and placement. If the condi-
tion is identified early, however, treatment can and the selective serotonin reuptake inhibitor
be started and long-term adverse effects mini- (SSRI; fluoxetine). He had been stable for a long
mized. It is a challenge for parents and individ- period with resolution of his previous psychiatric
uals working with children with developmental symptoms, so the family asked that his medica-
disabilities to be alert to the possible presence tion regimen be simplified. In consultation with
523
524 Robb
his family, the child psychiatrist began slowly adults with 22q11.2 deletion 32% experienced
tapering off the mood stabilizer, antipsychotic psychotic symptoms and 41% had depres-
medications, and SSRI. Eight months into this sion (Antshel et al., 2006; Arnold et al., 2001;
process he was off all medications except meth- Feinstein et al., 2002; Green, 2009). Both boys
ylphenidate. However, the school and parents and girls with fragile X syndrome have higher
were motivated to consult with the psychiatrist rates of social anxiety than typically develop-
ing peers. Affected girls have higher rates of
again after they noted that William had become
depression, and affected boys have higher rates
withdrawn and sad for 4 weeks. He was crying
of aggression (Bailey et al., 2008; Baumgardner
at school, not eating lunch or dinner, no longer et al., 1995; Einfeld et al., 1994). In children
playing or reading his favorite books, not sleep- with fragile X syndrome, the rates of anxiety
ing at night, and saying that he was a bad person were reported to be as high as 42% when teach-
who should be dead. The psychiatrist restarted ers were asked to rate symptoms; parents noted
William on a higher dose of fluoxetine (which anxiety in 26% of the same children (Sullivan
had originally been prescribed to treat his OCD et al., 2007). In girls with fragile X syndrome,
symptoms). Over the following 2 weeks, Wil- the rates of mood disorders were found to be
liam started smiling and eating again. His sleep 47%, with major depression representing half
improved, and he was back to being himself of those disorders (Freund et al., 1993). Rates of
bipolar disorder, however, are lower in children
by the end of the 6th week on fluoxetine. His
with fragile X than in the general population
“simplified” medication regimen now consists
(Hessl et al., 2001). Up to 58% of boys with
of fluoxetine and methylphenidate. fragile X syndrome can exhibit self-injurious
behavior, with 72% of them biting hands and
PREVALENCE OF fingers (Symons et al., 2003).
Children with trisomy 21 (Down syn-
PSYCHIATRIC DISORDERS
drome) have increased rates of behavioral disor-
AMONG CHILDREN WITH ders; 20%–40% exhibit aggression and ADHD
DEVELOPMENTAL DISABILITIES versus 5%–8% ADHD in typically develop-
OF SPECIFIC ETIOLOGIES ing children. Adults are at increased risk for
dementia and withdrawal depression compared
In their landmark study of the epidemiology of to typically developing adults. In trisomy 21,
childhood psychiatric disorders on the Isle of conduct disorder (CD) and oppositional defi-
Wight, Rutter, Graham, and Yule (1970) found ant disorder (ODD) occur at comparable rates
emotional disturbances in 7%–10% of typically to the general population (12%), while autism
developing children. In contrast, 30%–42% occurs in about 10% versus <1% in the general
of children with intellectual disability dem- population (Dykens, 2007; Myers et al., 1995;
onstrated psychiatric disorders (Rutter et al., Prasher et al., 1995; Visootsak et al., 2007; see
1970). In a Swedish study, Gillberg et al. (1986) Chapter 21).
found that 57% of children and adolescents In children with Prader-Willi syndrome,
with mild intellectual disability and 64% with the occurrence of OCD symptoms varies
severe intellectual disability met diagnostic cri- according to the molecular defect. Long type
teria for a psychiatric disorder. Additional stud- I 15q deletions have compulsive cleaning (e.g.,
ies have confirmed these results; children with grooming and showering); short type II 15q
intellectual disabilities have a 4–5 fold higher deletions have academic OCD symptoms (e.g.,
rate of psychiatric disorders than typically rereading, erasing, and counting; Zarcone et
developing peers and that higher rate does not al., 2007). Prader-Willi is also associated with
diminish as the children grow into adolescence higher rates of bipolar disorder: 15%–17%,
(Calles 2008; Feinstein & Chahal 2009). versus 2%–5% in the typically developing; and
In examining specific neurodevelopmen- mood disorders with psychotic features in 28%
tal disorders, it is apparent that patients can versus 0.4% in the general population (Boer et
have different rates of psychiatric disorders (see al., 2002; Vogels et al., 2004). Adolescents with
Table 29.1). In children with velocardiofacial Turner syndrome (XO) have high rates of social
syndrome (22q11.2 deletion syndrome), the phobia and shyness, with anxiety and mood
most common behavioral/psychiatric disorders swings becoming evident in adulthood (Cati-
are ADHD (25%–46%), major depressive dis- nari et al., 2006; Siegel et al., 1998). Almost half
order (MDD) (12%–20%), and anxiety disor- of individuals with XXYY have major depres-
ders including specific phobias (27%–61%). In sion (Tartaglia et al., 2008).
Table 29.1. Percentages of mental illness by developmental disability
Population MI ADHD ODD CD MDD BPD SZ/PSY AXD PH GAD SIB ASD
General 7–10 5–8 6–10 2–9 3.3–11.2 2–5 1.1 6–25 .6–15 .4–1.0 <1 <1
DD 30–42 48
Mild ID 57 5
Severe ID 64
VCF-child 25–46 12–20 27–61
VCF-adult 41 32
FRX 26–42
FRX-girl 47 mood
half
MDD
FRX-boy 58
TR21 20–40 12 12 10
PWS 15–17
TS High SP
XXYY 50
FAE 50 33–35
FAS 18 33–35
WS 80 65 54 12
Key: DD, developmental disability; ID, intellectual disability; VCF, velocardiofacial syndrome; FRX, fragile X; TR21, Trisomy 21; PWS, Prader-Willi syndrome; TS, Turner syndrome; FAE, fetal
alcohol exposure; FAS, fetal alcohol syndrome; WS, Williams syndrome; MI, mental illness; ADHD, attention-deficit/hyperactivity disorder; ODD, oppositional defiant disorder; CD, conduct
disorder; MDD, major depressive disorder; BPD, bipolar disorder; SZ/PSY, schizophrenia/psychotic disorder; AXD, anxiety disorder; PH, phobia; GAD, generalized anxiety disorder; SIB, self-
injurious behavior; ASD, autism spectrum disorder; SP, social phobia.
525
526 Robb
In children who have prenatal exposure are associated with memory and language dis-
to alcohol but without features of fetal alco- orders (see Chapter 24). The increased risk of
hol syndrome (FAS; see Chapter 3), rates of psychiatric disturbance due to neurobiological
CD are as high as 50% (Burd et al., 2003). For disorders may be attributable to factors such as
children with FAS, both suicide and depression irritability, affective instability, distractibility,
rates are elevated. Up to half attempt suicide, and communication impairments (Feinstein
and major depression is found in approximately & Reiss, 1996). Risk may also increase in the
18% of those exposed to alcohol in utero (Burd presence of conditions such as epilepsy, devel-
et al., 2003; O’Connor et al., 2002). For those opmental language disorders, and sensory
with fetal alcohol spectrum disorder (includ- impairments, which are independently associ-
ing both FAS and prenatal alcohol exposure), ated with an increased incidence of psychiatric
rates of bipolar disorder range from 33%–35% disorders.
(O’Connor et al., 2002). The cause of most psychiatric disorders
In a comprehensive study of children with among children with developmental disabilities
Williams syndrome, 80% were found to have one is likely, however, to be a complex interaction
or more psychiatric disorders, the most common among biological (including genetic), environ-
being ADHD (65%), followed by specific pho- mental, medical, and psychosocial factors. For
bia (54%), and then generalized anxiety disorder example, a young man who has sustained a sig-
(12%; Leyfer, 2006). As one example, a young nificant traumatic brain injury (see Chapter 26)
adult with Williams syndrome was described in with resulting cognitive impairment may regu-
the literature as having a severe eating disorder larly become depressed because of a combina-
which resulted from his thoughts of eating lead- tion of neurotransmitter changes due to brain
ing to constipation (Young, 2009). injury, a familial predisposition to depression,
his parents’ grief, and his own despair over loss
of previous abilities. Children with severe intel-
CAUSES OF lectual disability may develop SIB in response
PSYCHIATRIC DISORDERS IN to an ear infection or constipation as they can-
DEVELOPMENTAL DISABILITIES not verbally express feeling discomfort.
Children with developmental disabilities are
at risk for the same types of psychiatric disor- PSYCHIATRIC DISORDERS OF
ders as typically developing children. In addi- CHILDHOOD AND ADOLESCENCE
tion, certain maladaptive behavior disorders are
found principally among individuals with severe The following sections cover a number of psy-
to profound levels of intellectual disability. chiatric disorders; however, two important dis-
These behaviors include stereotypic movement orders, ASDs and ADHD, are not discussed
disorder (i.e., repetitive, self-stimulating, non- here because separate chapters are devoted to
functional motor behavior, which may include them (see Chapters 21 and 22 ). It should be
self-injurious behavior [SIB]) and pica (i.e., the noted that in the Diagnostic and Statistic Man-
persistent ingesting of nonfood items). ual—Fifth Edition (DSM-5; www.dsm-5.org) the
In some cases, the cause of a psychiat- American Psychiatric Association (APA) has pro-
ric disorder in individuals with developmental posed several criteria changes for diagnosing a
disabilities is the direct result of a biochemical number of disorders covered in this section.
abnormality. For example, in the inborn error These are described as follows: Posttraumatic
of metabolism Lesch-Nyhan syndrome (see stress disorder (PTSD) in children will need
Appendix B), an abnormality in the dopamine only two symptoms of negative alterations
neurotransmitter system causes affected indi- in cognition and mood and two symptoms in
viduals to exhibit a compulsive form of SIB arousal and reactivity. The trauma can be the
(Zimmerman, Jinnah, & Lockhart, 1998). In loss of a parent and can be manifest as nonspe-
other cases, conditions that affect the devel- cific frightening dreams, themes of trauma in
oping brain are risk factors for a psychiatric play, or reenactment of the trauma. In pediatric
disorder. In addition to fetal alcohol exposure eating disorders, less emphasis is placed on the
described above, congenital infections such as strict diagnostic requirement of being < 85%
rubella (which is associated with autism spec- of ideal body weight and having amenorrhea.
trum disorders [ASDs]), and perinatal or neo- The criteria now focus on previous weight
natal hypoxic ischemic encephalopathy (brain and growth patterns and the impact of starva-
disorders due to lack of oxygen or blood flow) tion on multiple organ systems, not just the
Behavioral and Psychiatric Disorders in Children with Disabilities 527
reproductive system. A new disorder in children children. If a child meets criteria for CD, he
under consideration in DSM-5 is temper dys- or she does not receive a concurrent diagnosis
regulation with dysphoria which is considered of ODD. Both ODD and CD occur at higher
a milder condition than the classic combined rates in children with developmental disabilities
oppositional defiant disorder and bipolar disor- than in typically developing children, 48% ver-
der. This proposed disorder describes children sus 6%–10% ODD and 2%–9% CD in non-
with persistent negative mood who have out- clinical populations (Hardan et al., 1997).
bursts of rage. Both of these disorders are often asso-
Changes to other disorders will be described ciated with ADHD, and the treatment for
in each section. one may improve the condition of the other
(Kutcher et al., 2004). Treatment of both CD
Oppositional Defiant and ODD includes the same behavior manage-
and Conduct Disorders ment techniques useful in ADHD. Similarly,
In order for a child to be diagnosed with oppo- both disorders may benefit from stimulant and
sitional defiant disorder (ODD), there must be a other ADHD medications (Connor, Barkley, &
pattern of negative, hostile, and defiant behav- Davis, 2000). Among the latter medications are
iors (APA, 2011). Children must have angry/irri- 1) atomoxetine (Strattera), a norepinephrine
table moods, defiant/headstrong behaviors, and reuptake inhibitor that is effective at higher
vindictiveness. In terms of the persistence and doses for children and adolescents with ADHD
frequency used to differentiate normative and comorbid with ODD or CD (Newcorn et al.,
symptomatic behavior, there are different stan- 2005); and 2) long-acting guanfacine (Intuniv),
dards for under-5 and over-5 children. Under-5 an α-2 receptor antagonist, which also helps
children should show these behavior problems control ADHD with comorbid ODD/CD
most days for at least 6 months, while over-5 chil- (Connor et al., 2010). A long-acting form
dren should show such problems at least once a of clonidine (Kapvay), another α-2 receptor
week for at least 6 months. Developmental level, antagonist, is now approved for ADHD mono-
gender, and culture must also be considered in therapy in 6–17 year olds (Jan 2011).
making the diagnosis, and these behaviors must Although all categories of ADHD medica-
occur outside of a psychotic or mood disorder. tion (stimulants, norepinephrine reuptake inhib-
They must cause impairments in social, educa- itors, and α-2 receptor agonists), can help when
tional, or vocational activities and may occur in ADHD is comorbid with ODD/CD, behavioral
one or multiple settings. This diagnosis is usually therapy is the preferred treatment for ODD and
given to preadolescent children. CD. Behavioral therapy involves setting con-
To be diagnosed with a conduct disorder sistent limits, behavioral expectations, and con-
(CD), an individual must demonstrate a pattern sequences (see Chapter 32). This intervention
of callous and unemotional behavior in which must be consistent at home and school so that
other people’s rights are violated, norms are the child knows that the rules and expectations
ignored, or rules are broken, and it must have are in force in all settings. For younger chil-
continued for at least 12 months. The four dren, a positive reinforcement system employing
main problem areas are 1) aggression toward stickers and/or a behavior chart, targeting being
people and animals, 2) destruction of property, respectful and following directions, can cover
3) deceitfulness or theft, and 4) serious violation most daily rules and activities. For older chil-
of rules. Some examples of aggression include dren and adolescents, tokens are commonly used
bullying and threatening, starting physical to reinforce appropriate behavior. These can be
fights, using a weapon in fights, being physi- traded for desired activities, such as an extra 30
cally cruel to people or animals, stealing while minutes of television or free computer time. In
confronting a victim, and forcing someone into this way, adolescents earn and pay for their privi-
unwanted sexual activity. Destruction includes leges in the same way that adults earn money to
deliberate fire-setting or vandalism or destruc- buy what they need or want.
tion of property. Deceitfulness or theft includes
breaking into a house or car, lying to obtain Impulse Control Disorders
goods or services, and stealing or shoplifting. These disorders include intermittent explosive
Serious violation of rules includes staying out disorder and hair-pulling disorder. Intermittent
at night (but not overnight) before age 13, run- explosive disorder is diagnosed after several
ning away from home overnight at least twice, discrete episodes of failure to resist aggressive
and frequent truancy from school before age impulses, with resultant assaults or destruction
13. CDs are rarely diagnosed in preadolescent of property. The severity of the assault must
528 Robb
be out of proportion to the precipitating psy- and worry most days about two or more of fam-
chosocial stressor. An example might be a child ily, health, finances, and school or work (APA,
who is told that he cannot have cake until he 2011). The child has difficulty controlling the
has finished his lunch. The child then throws worry and has accompanying symptoms includ-
his plate across the room, breaks his chair, and ing restlessness or feeling keyed up, quick
starts kicking his little sister over the incident. fatigue, problems concentrating, irritability,
Treatment of intermittent explosive disorder muscle tension, and disturbed sleep. The child
in adults includes the use of beta-blockers such also shows marked avoidance of, or marked
as propranolol, certain antiepileptic/mood sta- time and effort spent, preparing for situations
bilizing drugs (e.g., valproic acid [Depakote]), with potentially negative outcomes. In addition,
and novel antipsychotics (e.g., risperidone [Ris- the child procrastinates in behavior or decision-
perdal]; Hässler & Reis, 2010). Children with making due to worries and needs repeated reas-
mild to moderate intellectual disability are surances. The child has problems at home or
more likely to have this disorder than their typi- school because of the anxiety and the anxiety is
cally developing peers. unrelated to another psychiatric or medical ill-
An individual fits the profile for hair pull- ness. Treatment includes cognitive-behavioral
ing disorder, historically called trichotilloma- therapy to reduce worry and at times medica-
nia, when it results in noticeable hair loss; this tion such as SSRIs. Several studies have shown
can be anywhere on the body. It should not be that medications are effective for pediatric
associated with an underlying skin or physical anxiety including sertraline for generalized
condition causing hair loss. Consultation with a anxiety disorder in children (Rynn, Siqueland,
dermatologist to rule out skin problems such as & Rickels, 2001) and fluvoxamine (Luvox) for
tinea capitis (ringworm), which can cause hair generalized anxiety disorder, social phobia,
loss, may be appropriate. A child with this dis- and separation anxiety disorder (Walkup et
order feels tension that makes the child pull out al., 2001). More recently, a large NIMH study
the hair, which is followed by a sense of relief demonstrated that a combination of sertraline
after doing it. Children who have hair pull- and cognitive-behavioral therapy had the best
ing disorder may eat the hair, which can cause outcome in treating anxiety disorders found in
bezoars (hair balls) in the stomach or gastroin- children (Walkup et al., 2008).
testinal track that need to be surgically or endo-
scopically removed. In children with hair loss, Panic Disorder
it is important to ask the parent and child if the To meet diagnostic criteria for panic disorder
child is pulling out and eating hair. Treatment a person must have one or more panic attacks
of this disorder is similar to that for OCD, with that include at least four of the symptoms
the use of SSRIs (e.g., fluoxetine) and cognitive- listed in Table 29.2. People with panic disorder
behavioral therapy. This hair pulling is seen have panic attacks that recur, are unexpected,
on the spectrum of OCD in contrast to other and combine with worry about having more
forms of self-mutilation, such as self-cutting panic attacks, worry about the consequence of
seen in teenagers, which fall on the mood and an attack (e.g., that the child might die or go
personality disorder spectrums. crazy), or a significant change in behavior due
to the attacks (e.g., stopping exercising because
Anxiety Disorders of a fast heartbeat, rapid breathing, and sweat-
Anxiety disorders include the DSM-IV-TR ing—feeling like a heart attack). Because panic
classifications generalized anxiety disorder, attack symptoms can mimic other disorders
panic disorder, social anxiety disorder, OCD, such as heart problems, stomach disorders,
and PTSD. In DSM-5 skin-picking disorder seizures, and asthma, appropriate treatment is
has been added (APA, 2011). Anxiety disorders often delayed while other medical causes are
not discussed in this section include separation ruled out. In patients with panic disorder, other
anxiety, where children become anxious when family members also have or have had a history
away from family or the home, and simple of anxiety disorder or panic attacks.
phobias such as being frightened of needle Panic attacks do not usually begin until
sticks or the dark. puberty. Adolescents with panic disorder may
begin to avoid certain places or situations such
Generalized Anxiety Disorder as crowds, public transportation, and other
The diagnosis of generalized anxiety disorder places where a panic attack could occur. This
requires at least 3 months of excessive anxiety maladaptive change in behavior can lead to
Table 29.2. Symptoms of panic disorder family members and friends but being afraid
1. Rapid or racing heartbeat of other peers and adults. Exposure to the
2. Sweating, trembling, or shaking social situation (e.g., a birthday party) provokes
3. Feeling short of breath or as if being anxiety and the child may cry, have a tantrum,
smothered freeze, or shrink from situations with unfamil-
4. Feeling as if choking iar people. The child may not be aware that the
5. Chest pain or discomfort fear is unreasonable, and the fear must impair
6. Nausea or abdominal distress social functioning. Social phobia is classified
7. Feeling dizzy, lightheaded, or faint as generalized if it takes place in multiple set-
8. Feeling of unreality or detachment (like tings, and the symptoms must last for more
floating or in a dream) than 6 months. Treatment includes cognitive-
9. Fear of losing control or going crazy behavioral therapy to reduce anxiety in social
10. Fear of dying situations, speech-making and acting classes for
11. Numbness and tingling people with performance anxieties, and the use
12. Hot flashes or chills of SSRIs. Children with extreme cases of social
Note: At least four symptoms need to be present during phobia are too frightened to speak in the class-
an attack for a diagnosis of panic disorder. room, eat in the cafeteria, or use the restroom
at school. This can markedly impair school per-
formance and should not be dismissed as simple
avoiding exercise or unfamiliar situations or, shyness. Some children with a variant of social
in extreme cases, to comorbid agoraphobia phobia may, like children with social anxiety
(fear of leaving the house). Patients with panic disorder, have selective mutism, in which they
disorder can be treated with high-potency refuse to speak to unfamiliar people or chil-
benzodiazepines such as alprazolam (Xanax) dren; SSRIs may be helpful in this case (Black
and clonazepam (Klonopin) alone or in com- &Udhe, 1994). Girls with fragile X syndrome
bination with SSRIs. Patients with panic have been found to have severe shyness that
disorder can also be helped through cognitive- may be a manifestation of social phobia (Hager-
behavioral therapy to develop a list of things man et al., 1992).
that are least to most likely to cause a panic
attack. Patients then work their way through Obsessive-Compulsive Disorder
the list, facing the different issues that cause A child with OCD has obsessions, compul-
the attacks. The therapist helps the adolescent sions, or both. Obsessions are recurrent
devise strategies to temper or overcome the thoughts, images, or impulses that are expe-
attacks in real time and observes how the anxi- rienced as intrusive and inappropriate and
ety decreases over time. cause anxiety or distress. The obsessions are
not excessive worries about real-life problems
Social Anxiety Disorder (as in generalized anxiety), and individuals
A phobia particularly relevant to children is attempt to ignore, suppress, or neutralize the
social anxiety disorder, which includes school obsessions. Children may not be aware that the
phobia. In this disorder there is an intense fear obsessions and compulsions are unreasonable;
(phobia) of acting in a way or showing anxiety furthermore, children with a developmental
symptoms that will be negatively evaluated. disability may not realize that the obsessions
The fear is out of proportion to the actual dan- are a product of the mind. Compulsions are
ger posed by the social situation. For children, repetitive behaviors (e.g., hand washing) or
social anxiety disorder may result in not only mental acts (e.g., praying, counting) that are
making excuses to avoid school but also prac- done to neutralize an obsession or as part of
ticing selective mutism in which the child does following rigid rules. A child with obsessions
not speak at all in school but speaks normally in about germs would have washing compulsions
other situations. to neutralize the germs. The compulsions
Social phobia involves a marked and per- are designed to reduce distress or to prevent
sistent fear of one or more social or perfor- some dreaded act. For example, a child might
mance situations in which a person is exposed refuse to step on green tiles in the school cor-
to strangers or to scrutiny by others and wor- ridor because the child believes his or her
ries about possibly doing something embar- mother might die if the child stepped on green
rassing. A diagnosis for this disorder involves tiles. Children, especially younger ones, are
a child having appropriate relationships with more likely to have compulsions without the
530 Robb
accompanying obsessions; thus, a child might Posttraumatic Stress Disorder

have an elaborate 2-hour bedtime ritual with-
out self-awareness regarding why their bed- PTSD is an anxiety disorder that occurs after
time ritual is that certain way. exposure to a traumatic event in which the per-
Some children develop the rapid onset of son experiences or witnesses an actual or threat-
OCD after a streptococcal skin or throat infec- ened death, serious injury, or (in the case of a
tion referred to as PANDAS. Pediatric auto- child) the loss of a parent or other attachment
immune neuropsychiatric disorders associated figure. In children with developmental disabili-
with Streptococcus infections (PANDAS; Swedo ties, PTSD may occur after physical abuse or
et al., 1998) describes a subset of childhood after the injury that caused the disability. Chil-
OCDs and tic disorders triggered by group-A dren with intellectual disability are particularly
beta-hemolytic Streptococcus pyogenes infection. at risk for PTSD, as they have more limited
Like adult OCD, PANDAS is associated with coping skills. The child responds to the incit-
basal ganglia dysfunction. ing event with intense fear, helplessness, or
Common compulsions in children include horror and may have disorganized or agitated
ordering and arranging, counting, tapping, behavior. A child with diagnosis of PTSD must
touching, and collecting/hoarding. Since nearly have symptoms for at least one month and have
all children exhibit some or all of such behaviors impaired functioning. The symptoms are bro-
during development, in order to meet criteria ken down into three categories 1) reexperienc-
for the diagnosis, the obsessions and compul- ing the trauma, 2) avoidance and numbing, and
sions must consume more than 1 hour per day 3) increased arousal. Reexperiencing behavior
and interfere with functioning. includes recurrent recollections of the event
The definition also includes a level of (in children, this may manifest as a repeti-
insight by the child for the irrationality of the tive theme in play), dreams of the event (chil-
OCD. Individuals with chronic tic disorder dren may have distressing dreams that are not
may exhibit OCD symptoms, and children with trauma-specific), flashbacks of the event (chil-
ASD may exhibit OCD-like rigidity and repeti- dren may reenact the trauma), intense mental
tive, compulsive behaviors (see Chapter 21). distress at physical or mental cues that remind
Treatment of OCD in children and ado- the child of the event, and physiological reactiv-
lescents includes cognitive-behavioral therapy, ity on exposure to cues that remind the child of
which is aimed at experiencing the obsessive the event. Avoidance behavior includes efforts
thought without carrying out the compulsion to avoid thoughts or feelings associated with
designed to reduce the anxiety. This form of the trauma, efforts to avoid people and places
cognitive-behavioral therapy is called exposure- associated with the trauma, inability to recall
and-response prevention. A child with fear of important aspects of the trauma, decreased
germs would be asked to touch a doorknob but interest or participation in activities, feelings of
then be forbidden to wash his or her hands. detachment or estrangement, restricted range
Children have weekly assignments in this ther- of feelings, and a sense of a shortened future.
apy. Several medications are also approved for Symptoms of increased arousal include diffi-
the treatment of OCD in children including culty sleeping, irritability or angry outbursts,
clomipramine (Anafranil), sertraline (Zoloft), difficulty concentrating, hypervigilance, and an
fluoxetine (Prozac), and fluvoxamine (Luvox) exaggerated startle response. PTSD is charac-
(DeVaugh-Geiss et al., 1992; Geller et al., 2001; terized by duration, either acute (3 months or
March et al., 1998; Riddle et al., 2001). One less) or chronic (more than 3 months), and by
paper in the literature described the difference delayed onset (starts 6 months after the trauma).
in outcome among children with OCD who Treatment of PTSD has included both
were treated with one of four treatments ser- psychotherapy and SSRIs (March et al., 1998).
traline, placebo, cognitive-behavioral therapy, The largest controlled trial of the SSRI sertra-
or a combination of medication and therapy line in PTSD failed to show that medication
(POTS Team, 2004); of those, combination was superior to placebo (Robb et al., 2010).
therapy helped the most children, followed by Other studies have shown that trauma-focused
cognitive-behavioral therapy alone, then sertra- cognitive-behavioral therapy shows the best
line, and placebo. OCD can be comorbid with efficacy in youth with PTSD (Smith et al.,
other developmental disabilities, especially 2007). Patients must practice talking through
ADHD and ASDs. the thoughts and events that remind them of
the incident that elicited the PTSD. Play ther- Bipolar Disorder
apy, in which a child has a chance to relive and Bipolar disorder consists of swings between
triumph over the trauma, may also help work depression and mania/hypomania. A manic epi-
through the loss. Therapy must be based on the sode consists of a distinct period of abnormally
cognitive level of the child. and persistently elevated, expansive, or irritable
mood lasting at least 1 week. The mood distur-
Skin Picking Disorder
bance must have three of the following symp-
In this anxiety disorder, skin picking results in toms if happy and four if irritable: 1) inflated
actual skin lesions. It also causes clinically signifi- self-esteem or grandiosity, 2) decreased need for
cant distress or impairment in social, occupation, sleep, 3) more talkative or pressured speech or
or other important areas of function. Medical vocalizations (in nonverbal children), 4) flight of
afflictions (e.g., scabies) and other psychiatric ideas (idea moves from topic to topic) or racing
disorders (e.g., psychosis) must be eliminated thoughts, 5) distractibility, 6) increased goal-
from consideration to make this diagnosis. directed activity or psychomotor agitation, and
7) excessive involvement in pleasurable activi-
Mood Disorders ties that have a high potential for painful conse-
quences (e.g., sexual touching of self and others,
Major Depression drug use, spending sprees). Hypomania is a less
Children carrying a diagnosis of major depres- severe set of symptoms than mania. A patient
sion must have a 2-week period with at least with hypomania would not need to be hospital-
five of the following symptoms that represent a ized, would have symptoms for less than 7 days,
change from previous functioning: 1) depressed would only have two of the manic symptoms, or
mood by subjective report or as observed by continue to do well at school and home despite
others (children and adolescents may have an silly goofy behavior.
irritable mood), 2) decreased interest or plea- Individuals with bipolar disorder are
sure in most activities, 3) significant change in treated with mood stabilizers such as lithium
weight or appetite (children may fail to make or valproic acid (Depakote, which is also used
expected weight gains), 4) insomnia or hyper- as an antiepileptic drug; it is not approved for
somnia (excessive sleep), 5) psychomotor agita- the treatment of bipolar disorder in children
tion or retardation, 6) fatigue or loss of energy, or adolescents). They may also benefit from
7) feelings of worthlessness or guilt, 8) decreased antipsychotic medication such as risperidone
concentration or indecisiveness, and 9) recur- (Risperdal), aripiprazole (Abilify), olanzapine
rent thoughts of death and dying. Symptoms (Zyprexa), quetiapine (Seroquel), and zipra-
must not be due to bereavement and must cause sidone (Geodon) in conjunction with mood
impairment in the child’s daily function. stabilizers or as monotherapy (use of antipsy-
A study of individuals with trisomy 21 chotics alone rather than in combination with
and depression showed they were more likely a primary mood stabilizer such as lithium or
to have crying, depressed appearance, hallu- valproic acid). All of these medications except
cinations, vegetative symptoms (loss of sleep ziprasidone are FDA-approved for the treat-
energy and appetite), mutism, and psychomo- ment of bipolar disorder mixed or manic epi-
tor retardation (Myers et al., 1995). Children sodes in older children and teenagers. Children
with major depression can be treated with with bipolar disorder must have consistent bed-
medication or psychotherapy or a combina- times and routines so that lack of sleep does not
tion of both. Studies have shown that sev- precipitate either a manic or mixed episode.
eral SSRIs are superior to a placebo in the
treatment of depression (Emslie et al., 2002; Psychotic Disorders
Wagner et al., 2003; Wagner et al., 2004). A Psychotic disorders (sometimes called “psycho-
National Institute of Mental Health (NIMH) sis”) consist of alterations in thinking or percep-
study found that for adolescents with major tions that are not connected with reality. The
depression, placebo, and cognitive-behavioral primary psychotic disorder is schizophre-
therapy alone were similar in improvement, nia. The diagnosis of schizophrenia requires
whereas fluoxetine was better, and fluoxetine the presence of one or more of the following
plus cognitive-behavioral therapy had the best three symptoms for at least 6 months, with
outcome (TADS Team, 2004). active symptoms for 1 month or less if treated:
532 Robb
1) delusions (fixed idiosyncratic false belief; or very guilty afterwards. The binge eating epi-
e.g., that someone is following the person), sodes should not occur exclusively during the
2) hallucinations (sensory perception without course of anorexia, bulimia, or avoidant/restric-
an environmental stimulus; e.g., hearing a voice tive food intake, and they must occur on average
when no one else is present), and 3) disorga- at least once a week for 3 months (APA, 2011).
nized speech (APA, 2011). In children there will It should be emphasized that children who do
be an associated failure to achieve expected lev- binge risk choking to death. In Prader-Willi
els of interpersonal relationships and academic syndrome, binge eating is a frequent complica-
achievement. tion and contributes to the morbid obesity seen
Patients with a mood disorder or an ASD among individuals with Prader-Willi. Children
may have psychotic symptoms that are confused with binge eating disorder need nutritional
with the formal diagnosis of schizophrenia. An guidance and counseling, parental and school
individual with ASD must have prominent oversight of meals, limited access to food out-
delusions or hallucinations to meet the schizo- side of meals, and an exercise routine. For some
phrenia diagnosis in addition to ASD. Other children with a severe binge eating disorder,
medical conditions that can mimic schizophre- admission to a long-stay residential setting
nia include epilepsy, effects of an illegal drug, with strict oversight of meals and activity lev-
and brain tumors. Once the diagnosis of schizo- els can dramatically change the child’s weight
phrenia has been confirmed, treatment with and improve the underlying medical condition.
antipsychotic drugs will reduce the delusions Untreated ADHD, especially in girls, has been
and hallucinations, thereby improving psycho- found to place them at higher risk for binge eat-
social functioning. Five atypical antipsychotic ing in adolescence and young adulthood (Bie-
medications for schizophrenia are approved for derman, 2010).
adolescents 13 and up: aripiprazole, olanzapine Pica, the persistent craving and ingesting
(second line due to metabolic issues), quetiap- of nonfood items, is a typical behavior of tod-
ine, paliperidone (Invega), and risperidone. Tri- dlers. When a child older than 2 years displays
als of ziprasidone for adolescent schizophrenia pica, however, professionals should explore the
failed to show a benefit compared to placebo. possibility that the child has a psychiatric dis-
order or a nutritional deficiency. Also, pica in
Eating Disorders older children can also be a typical behavior of
The three important types of eating disorders individuals with severe to profound intellectual
that occur in children with developmental disability. Pica from any cause described above
disabilities are rumination, binge eating, and can seriously affect a child’s well-being. It can
pica. In rumination, infants or young children result in toxicity from ingested materials such as
repeatedly regurgitate without nausea or gas- medications or lead-containing plaster or paint
trointestinal illness for at least 1 month. Regur- chips, and can physically damage the gastroin-
gitated food may be rechewed, reswallowed, or testinal tract. Behavior management techniques
spit out. To meet the definition of rumination (see Chapter 32) have been found to be the
in the context of intellectual disability or ASD, most effective intervention for pica (McAdam
regurgitation should be sufficiently frequent et al., 2004).
and severe to warrant independent clinical
attention because it may instead be a self-stim- Adjustment Disorders
ulatory behavior in these children. Treatment These disorders involve the development of
includes behavioral interventions and the use of emotional or behavioral symptoms in response
gastrointestinal motility agents (e.g., laxatives). to an identifiable stressor and occur within
The second common eating disorder is 3 months of the onset of that stressor. The
binge eating, whereby the child has recurrent symptoms or behaviors are clinically signifi-
episodes of eating large amounts of food dur- cant and cause marked distress, in excess of
ing short periods of time. Binge eating episodes what would be expected from exposure to the
demonstrate at least three of the following fea- stressor, and are accompanied by significantly
tures: 1) eating much more rapidly than nor- impaired social or occupational (academic)
mal; 2) eating until feeling uncomfortably full; functioning. With the exception of an ASD,
3) eating large amounts of food when not feel- individuals with adjustment disorders do not
ing physically hungry; 4) eating alone because have another major psychiatric disorder. Once
of embarrassment over how much one is eating; the stressor ends, the symptoms do not persist
and 5) feeling disgusted with oneself, depressed, for more than 6 months. Adjustment disorder
with anxiety has symptoms such as nervousness, Tissue destruction, infection, internal injury,
worry, or jitteriness or, in children, separation loss of vision, and even death may result. These
anxiety focused on parents. Adjustment disor- behaviors may be accompanied by additional
der with depressed mood includes depression, repetitive, stereotyped behaviors, such as hand
tearfulness, or hopelessness as the predomi- waving and body rocking. When these repeti-
nant symptoms. Adjustment disorder with dis- tive behaviors interfere with activities of daily
turbances of conduct presents with significant living or result in significant injury to the indi-
problematic behaviors such as truancy, van- vidual, a diagnosis of stereotypic movement disor-
dalism, reckless driving, or fighting. Finally, der with SIB is made.
adjustment disorder with mixed disturbance Although serious SIB occurs in fewer than
of emotions and conduct includes anxiety or 5% of people of all ages with intellectual dis-
depression plus conduct symptoms. ability, these behaviors cause enormous dis-
Children with developmental disabilities tress to the individuals and their caregivers, can
may be at higher risk for adjustment disorders result in severe bodily injury, and may lead to
because they have limited coping skills and residential placement, separating the individual
frequently have medical illnesses or require from the family and other community con-
procedures that produce stress. When chil- tacts. Some children with SIB also demonstrate
dren with developmental disabilities enter the severe aggressive behavior toward their caregiv-
hospital for a medical procedure or illness, ers or peers.
parents, caregivers, and health care providers SIB is a puzzling and disturbing phenom-
must be prepared for exaggerated emotional enon that prompts asking why these individu-
and behavioral responses to being in the hos- als hurt themselves. Although no simple answer
pital and kept away from their normal rou- exists, there is evidence for both environmental
tine. Children may cry, have tantrums, or act and biological causes in the context of enor-
out; they may alternatively become quiet and mous individual variation (Buitelaar, 1993;
withdrawn, refusing to eat or cooperate with Mace & Mauk, 1995; Schroeder et al., 1999).
staff. Patience and reassurance will generally Some children exhibit SIB because it elicits a
help the child navigate the stressful situation desired environmental outcome (i.e., operant
and return to his or her baseline emotional and control; Loschen & Osman, 1992). For exam-
behavioral functioning. Interventions to help ple, a girl who is nonverbal but demonstrates
prevent and treat these adjustment disorders head-banging will have that reinforced once she
include allowing parents to stay overnight in learns that this action captures the attention she
the hospital and allowing the child to bring craves. Other environmental factors that can
special bedding, pillows, transitional objects reinforce SIB include access to desired items
(e.g., security blankets), stuffed animals, or (e.g., food), avoidance of task demands (e.g.,
favorite books or games to improve the child’s chores), and certain sensory effects (e.g., bright
comfort in the hospital. Visits to the hospital lights from eye pressing; Mace & Mauk, 1995).
or treatment center ahead of an admission may The inference that the sensations produced
also help provide familiarity with new places through self-induced painful stimulation may
and people, and thus diminish fear. somehow be gratifying has led to the notion
that SIB plays a role in regulating physiologic
Maladaptive Behavior Disorders states such as arousal. Guess and Carr (1991)
Some individuals with severe to profound lev- proposed a biobehavioral model in which the
els of intellectual disability develop behavioral regulation of normal sleep, wake, and arousal
symptoms that are qualitatively different from patterns is delayed or disturbed in some individ-
those seen in people without developmental uals. These individuals then develop stereotypic
disabilities. These symptoms, which include movements and SIB as a way to self-regulate
repetitive self-stimulating behavior and self- arousal in under- or overstimulating environ-
injurious behavior (SIB), rarely occur in typi- ments. There is also a relationship between
cally developing children (Hardan et al., 1997). SIB and pain in nonverbal children with severe
Individuals who engage in SIB typically cognitive impairment. They have been found
display a specific pattern for producing injury. to increase SIB during an ear infection, con-
They may bang their heads, bite their hands, stipation, or other conditions associated with
pick at their skin, hit themselves with their pain (Breau et al., 2003). Other biological fac-
fists, or poke their eyes. They may do this once tors are suggested by the increased prevalence
or twice a day in association with tantrums, of SIB in certain genetic syndromes, including
or as often as several hundred times an hour. de Lange syndrome, Lesch-Nyhan syndrome,
534 Robb
Prader-Willi syndrome, and Rett syndrome classmates, and living situations, including
(see Appendix B). Psychiatric disorders such family members and pets; they all can be both
as ASDs, depression, mania, and schizophrenia strengths and vulnerabilities.
are also risk factors for SIB. General medical
conditions and medication side effects can be
acute precipitants of SIB. For example, a pain-
EVALUATION
ful middle-ear infection may lead to head bang- Psychiatric needs can be met only if parents,
ing. Evaluating any individual for the cause of teachers, and other staff who work with children
SIB demands the systematic testing of a broad with disabilities are aware that emotional dis-
range of behavioral and biomedical hypotheses turbances may be present. Ideally, the referral
(Sternberg, Taylor, & Babkie, 1994). for evaluation should be made to professionals
Although the brain mechanisms underly- (e.g., psychiatrists, psychologists, neurologists,
ing most forms of SIB remain unknown, several developmental-behavioral pediatricians, neu-
neurotransmitters are thought to be involved. rodevelopmental pediatricians, social workers)
These include dopamine, which mediates cer- with specific training, experience, and expertise
tain reinforcement systems in the brain; sero- in the psychiatric disorders of children with
tonin, the depletion of which is sometimes developmental disabilities. The goal of evalua-
associated with violent behavior; gamma- tion is to formulate an intervention plan based
aminobutyric acid (GABA), an inhibitory neu- not only on the psychiatric diagnosis but also on
rotransmitter; and opioids, the brain’s natural the developmental level of the child, accompa-
painkillers (Verhoeven et al., 1999). The atypi- nying medical conditions, the family’s strengths
cal antipsychotic risperidone has been found to and challenges, and the needs and limitations
be useful in treating SIB (Zarcone et al., 2001) of the settings where the child spends his or
together with applied behavior analysis. As of her time. Often this requires referral to a spe-
2006, risperidone was FDA-approved for the cialized tertiary care center with a multidisci-
treatment of violent and aggressive behavior, plinary team, such as a university hospital. Less
including SIB in individuals with autism. Also, experienced mental health professionals who
by 2009 aripiprazole was approved for treating undertake such evaluations should have access
irritability and aggression in children and ado- to consultation from a specialized center.
lescents with autism (Robb et al., 2010). The mental health professional first takes
a detailed history of the current symptoms
and problematic behaviors from parents or
VULNERABILITY
other caregivers. For example, recent changes
Individuals with developmental disabilities are in sleep pattern, appetite, or mood provide
at higher risk for psychiatric disorders than important evidence of depression. In addition,
their typically developing peers for a variety of an individual and family medical history should
reasons, which include 1) higher rates for cer- be obtained. The family history may reveal, for
tain psychiatric disorders in specific syndromes example, other members with mood or anxiety
(e.g., ADHD in Williams syndrome, irritabil- disorders. A review of the individual’s past med-
ity in ASD); 2) impairment in acquisition of ical and psychological assessments may indicate
age-dependant coping skills (e.g., some syn- prior behavior or psychiatric problems. After
dromes particularly affect skill development taking the history, an interview is conducted
including trisomy 21, fragile X syndrome); 3) posing both structured and open-ended ques-
multiple hospital stays for treatment of associ- tions to the child and parents. If impairments in
ated medical problems (e.g., surgical releases communication and cognitive skills are signifi-
of contractures in cerebral palsy); 4) physi- cant, the professional can still gain important
cal differences readily seen by peers who may information from directly observing the child
bully the child (e.g., facial features in trisomy both alone and with parents (King et al., 1994).
21, skin lesions in neurofibromatosis, morbid Input from the school and other care providers
obesity in Prader-Willi syndrome); and 5) a frequently helps clarify the diagnostic issues.
family history of psychiatric disorders that The evaluation should also focus on the
adds to the genetic risk for mental illness in social system and setting in which the psychi-
the child with developmental disability. When atric disorder occurs. Thus, the professional
assessing patients with developmental dis- should evaluate the current level of family func-
abilities for psychiatric symptoms the practi- tioning by assessing 1) family members’ ability
tioner must also consider changes in school, to cope with the child’s psychiatric disorder and
therapy; 2) their current morale, problem-solv- can cause symptoms of hyperactivity or depres-
ing abilities, external social supports, and prac- sion (Alvarez, 1998). Careful evaluation for
tical resources (e.g., finances, insurance); 3) the medical conditions or drug reactions should be
system of beliefs that sustains their efforts; and a part of any assessment of new-onset behav-
4) the stability of the parents’ relationship. It ioral or psychiatric symptoms.
is important to understand how individual fam- After the evaluations have been completed,
ily members are reacting and adjusting to the the professional can start formulating an inter-
child’s underlying developmental disability as vention plan based not only on the psychiatric
well as any current mental health problems (see diagnosis but also on the child’s developmental
Chapter 37). level, accompanying medical conditions, the
Following the comprehensive interview, family’s strengths and challenges, and the needs
the child may be referred for psychological and limitations of the settings where the child
testing or behavioral assessment. Although spends his or her time.
standardized behavior rating scales are avail-
able, they are insufficient by themselves as diag-
nostic tools. A single, structured psychological TREATMENT
testing instrument may not be able to cover the Treatment of psychiatric illness in children
range of developmental levels and behavioral and adolescents with developmental disabilities
baselines exhibited by individuals with devel- involves some or all of the modalities described
opmental disabilities. These instruments are in the following sections. Interventions must
important, however, for confirming or adding be tailored to each child’s needs at home, at
to information obtained from the history and school, and with peers. The treatment modali-
interview. They can also be extremely helpful ties utilized may need to be adjusted as the child
in measuring changes that occur during the matures and individual needs change.
course of intervention (Aman, Burrow, & Wol-
ford, 1995; Demb et al., 1994; Linaker & Helle, Educational Interventions
1994; Reiss &Valenti-Hein, 1994).
Educational interventions can include a vari-
Standardized rating scales may be combined
ety of supports to help a child succeed in the
with a functional behavior analysis. This type of
classroom (see Chapter 31). Children may ben-
combined assessment is most useful regarding
efit from schoolwide positive-behavior inter-
children with severe behavioral abnormalities
ventions and supports, with an individualized
for which specific family or behavior therapies
behavior intervention plan being developed if
are being considered. One of the more helpful
necessary. The education setting can also be
rating scales, the Aberrant Behavior Checklist
a form of support: children may be placed in
(ABC), can be completed by parents or caregiv-
smaller self-contained classes or included in the
ers, is normed on the developmentally disabled
general education class but with extra aides or
population, and tracks five subscales including
a one-to-one helper. When the child becomes
irritability and hyperactivity (Aman, 1995). This
upset, the aide can help calm the child, avoid-
scale can be given at baseline and then tracked
ing the need to leave the classroom. The child
over time to evaluate responses to interventions
may also benefit from therapy sessions with the
both pharmacologic and behavioral. Behavior
school counselor or behavioral psychologist.
analysis provides direct observation of the child in
There should be close collaboration between
a natural setting, yielding a clear description of the
school personnel, parents, and the child’s medi-
abnormal behavior itself and its antecedents and
cal team.
consequences (see Chapter 32). Often, changes in
a child’s environment such as a new teacher, class-
mate, or bus driver or other changes in a child’s
Rehabilitation Therapy
routine can precipitate behavioral symptoms. There is evidence that language impairments
It is important to note that many symp- significantly contribute to the development of
toms of a psychiatric disorder can actually be certain behavior problems. Some aggressive
caused by a variety of medical disorders and behaviors and SIBs have been linked to the
treatments. For example, hypothyroidism, inability to communicate needs, and teach-
common in individuals with Down syndrome, ing functional communication skills has been
can cause emotional disturbances that pres- shown to decrease SIB. Thus, speech-language
ent as anxiety or depression. In excessive (and therapy and training in augmentative and alter-
sometimes therapeutic) dosages, drugs used to native communication systems (see Chapter 20)
treat associated impairments such as epilepsy may be an important part of the intervention
536 Robb
program. Similarly, if the child has a physi- therapist should have expertise in working with
cal disability, the pain from contractures, an individuals with developmental disabilities.
inability to ambulate, or difficulty reaching for Behavior therapy is perhaps the most widely
desired objects may lead to behavior and mood researched psychotherapeutic intervention for
alterations. Physical and occupational therapy children and adolescents with intellectual dis-
may improve motor function, with associated abilities (see Chapter 32). Cognitive-behavioral
improvement in behavior and mood. therapy and family interventions have been suc-
cessful in children with ASD. There are exten-
Psychotherapy sive findings supporting the effectiveness of
There is ample evidence that various forms of behavioral approaches in psychiatric disorders
psychological or behavioral therapy (individual, (Benjamin, 2011; Weisz et al., 2004). When used
group, and family) can benefit a child or ado- in conjunction with comprehensive assessment,
lescent with developmental disabilities and psy- accurate medical and psychiatric diagnoses, and
chiatric disorders, if it is adapted to the child’s programmatic intervention, behavior therapy
developmental age and communication abilities is among the most powerful available interven-
(Brosnan, 2011; McGinnes, 2010; Plant, 2007). tions. As with other forms of psychotherapy and
Table 29.3 shows different types of psychother- pharmacotherapy, however, it should be imple-
apy and the disorders that they are most use- mented only under the supervision of licensed
ful in treating. Goals of therapy are to relieve professionals who have been specifically trained
symptoms and help the child understand the in this methodology.
nature of the disability and associated feelings
and to come to recognize and appreciate his Pharmacotherapy
or her strengths. Psychotherapy, particularly Medication can play an important role in treat-
group work, can also enhance social skills and ing the psychiatric disorders that occur in chil-
help the child deal with stigmatization, rejec- dren with developmental disabilities (Efron et
tion, peer pressure, and attempts at exploitation al., 2003). Table 29.4 lists the various medica-
(American Academy of Child and Adolescent tions in each of the diagnostic groups that are
Psychiatry, 1999). Regrettably, individuals with described next. (Additional information on
developmental disabilities are seriously under- uses and side effects of these medications can
served regarding psychotherapy, despite the be found in Appendix C.) In order to minimize
fact that psychotherapy can provide a support- side effects when a child with a developmental
ive relationship, help restore self-esteem, and disability is started on a psychotropic medica-
enhance the child’s capacity to recognize and tion, it is important to begin treatment at a low
master emotional conflicts and solve problems. dose and then slowly titrate the dose up. This
Psychotherapy also can be added to behav- is particularly important because these children
ior therapy and pharmacotherapy when these are at a greater risk for side effects than are
approaches have not adequately resolved symp- their typically developing peers. An example of
toms or improved quality of life. Ideally, the this was seen in the aripiprazole pediatric trials:
Table 29.3. Types of psychotherapy and uses in different disorders

Social Supportive/ Parent
Therapy Behavior CBT skills Group Individual educational training
ADHD X X X X
ODD and conduct disorder X X X X
Generalized anxiety disorder X X X
Social phobia X X X X X X
Panic disorder X X X
PTSD X X X
OCD X X
Major depression X X X
Bipolar disorder X X X
ASDs X X X X X X
Schizophrenia X X X X X
Key: CBT, cognitive-behavioral therapy; ADHD, attention-deficit/hyperactivity disorder; ODD, oppositional defiant disor-
der; PTSD, posttraumatic stress disorder; OCD, obsessive-compulsive disorder; ASDs, autism spectrum disorders.
the titration was quickest in typically develop- Antihypertensives

ing adolescents with schizophrenia who could Beta-blockers, such as propranolol, are used
accept increased doses every 2 days to a maxi- to treat explosive and aggressive behavior,
mum of 30 mg in less than two weeks (Find- whereas alpha-2 adrenergic receptor agonists
ling et al., 2008). In contrast, for the children (e.g., clonidine [Catapres, Kapvay], guanfa-
with irritability associated with autism when cine [Tenex, Intuniv]) are used to treat ADHD,
the dose was increased weekly to a maximum tic disorder, and Tourette syndrome. These
dose of 15 mg over 4 weeks these children with medications sedate and can also lower blood
autism had higher rates of side effects despite pressure; thus, they should be used cautiously,
a lower maximum dose and slower titration especially in children with developmental dis-
schedule (Robb et al., 2011). In another study, abilities associated with comorbid cardiac dis-
stimulants given to children with autism were orders (Ahmed & Takeshita, 1996). Recently,
associated with a higher rate of emotional labil- the long-acting formulations Intuniv and Kap-
ity, crying, and other side effects than were seen vay have both been FDA approved for the treat-
in typically developing preschool children with ment of ADHD in children and adolescents as
ADHD (Nickels et al., 2008). monotherapy and in combination with stimu-
Antidepressants lants (Connor 2010; Jain, 2011; Kollins, 2011).
Antidepressants are used to treat major depres- Antipsychotic Medications
sion and anxiety disorders including OCD,
Antipsychotic medications have been used pri-
generalized anxiety disorder, and separation
marily to treat aggression and SIB in children
anxiety disorder (De-Vaugh-Geiss et al., 1992;
with intellectual disability or ASDs. There is, in
Emslie et al., 2002; Geller et al., 2001; March,
fact, more safety data on risperidone in children
et al., 1998; Riddle et al., 2001; Wagner et al.,
with intellectual disability and ASDs than in
2003; Wagner et al., 2004). The class of anti-
their typically developing peers. In 2006, risper-
depressants most commonly used in children
idone became the first antipsychotic medication
and adolescents is the SSRIs. In 2004, the Food
approved for the treatment of aggressive behav-
and Drug Administration (FDA) required drug
ior in individuals with autism. Aripiprazole has
companies to start putting “black box” (black
also been approved for the treatment of irrita-
box warnings are the FDA’s highest level of
bility and aggression in children 6–17 showing
warning before removing a drug from the mar-
such symptoms in autism (Robb, 2010). Many
ket) warnings on the packaging of all catego-
of the other novel neuroleptics have also been
ries of antidepressants, as well as atomoxetine
studied in individuals with ASDs. Although
(Strattera) for ADHD, aripiprazole (Abilify)
novel neuroleptics are much more likely to
for treatment-resistant depression, and que-
cause weight gain, they are less likely to cause a
tiapine (Seroquel) for bipolar depression. More
movement disorder (Martin et al., 2004; Stigler
recently the antidepressant black box warning
et al., 2004).
has been revised and expanded to include all
those individuals younger than 25 years. The Benzodiazepines
warning states that these antidepressants may
increase suicidal thoughts and actions when Benzodiazepines are helpful in reducing anxiety
first started. Depression and other mental ill- in the short term. Children with developmen-
nesses are the most important causes of suicidal tal disabilities, however, may have paradoxical
thoughts and actions; some people may be at a reactions to these medications and may become
particularly high risk of having suicidal thoughts agitated rather than calm and sleepy (Roths-
and actions. Families should watch closely for child, 2000; Mancuso, 2004). Because chronic
changes in mood, behavior, and the appearance use of these agents can cause chemical and
of suicidal thoughts and actions when starting a behavioral dependency and may alter seizure
child on antidepressants, and clinicians should control, they should not be used for long-term
monitor their young patients for any change in control of anxiety symptoms.
mental state and for indications of suicidal ideas
or plans. With these controls in place, antide- Mood Stabilizers
pressants can continue to be useful in the treat- Mood stabilizers include lithium and anti-
ment of pediatric mood and anxiety disorders epileptic medication (Findling et al., 2005).
and remain an important part of treatment for They are most commonly used to treat bipo-
these illnesses (Hammad, Laughren, & Raco- lar disorder and aggressive behaviors. Lithium
osin, 2006). is effective in treating current episodes and in
538 Robb
Table 29.4. Medications used to treat psychiatric disorders

Other
Generic name Trade name Type Uses formulations
Antidepressants Fluoxetine Prozac, Sarefem SSRI Depression, anxi- Liquid and weekly
ety, OCD
Fluvoxamine Luvox SSRI OCD None
Sertraline Zoloft SSRI Depression, anxi- Liquid
ety, OCD
Paroxetine Paxil, Paxil CR SSRI Depression, anxi- Liquid (not in CR)
ety, OCD
Citalopram Celexa SSRI Depression Liquid
Escitalopram Lexapro SSRI Depression, Liquid
anxiety
Venlafaxine Effexor, Effexor SNRI Depression, None
XR anxiety
Duloxetine Cymbalta SNRI Depression None
Buproprion Wellbutrin, Dopami- Depression, None
Wellbutrin SR, nergic ADHD
Wellbutrin XL
Antihypertensives Propranolol Inderal, Inderal Beta Aggressive None
LA blocker behavior
Clonidine Catapres, Cat- Alpha- ADHD, tics, Weekly skin patch
apres-TTS 2-ad- sleeping agent
patch renergic Monotherapy or
Kapvay agonist with stimulant
Guanfacine Tenex Alpha- ADHD, tics None
Intuniv 2-ad- Monotherapy or
renergic with stimulant
agonist
Antipsychotics Clozapine Clozaril Atypical Treatment- None
resistant schizo-
phrenia, bipolar
disorder (not
FDA approved
for acute bipo-
lar mania)
Risperidone Risperdal, Risp- Atypical Schizophrenia, Liquid, oral dis-
erdal M-Tab, bipolar disor- solving tablets
Risperdal der, aggressive (M-Tab), 2-week
Consta behavior in injection (Con-
children with sta)
autism spec-
trum disorders
Olanzapine Zyprexa, Atypical Schizophre- Oral dissolving
Zyprexa Zydis, nia, bipolar tablets, 2-week
Zyprexa disorder, acute injection (Rel-
Relprev agitation prev) requires
extensive
monitoring
Ziprasidone Geodon Atypical Schizophre- Daily injection
nia, bipolar
disorder, acute
agitation
Quetiapine Seroquel Atypical Schizophrenia, None
bipolar disor-
der (acute
mania and
bipolar depres-
sion)
Aripiprazole Abilify, Abilify Atypical Schizophrenia, Liquid, oral dis-
Discmelt (plus bipolar disorder solving tablets,
sero- daily injection
tonin
agonist)
Other
Generic name Trade name Type Uses formulations
Paliperidone Invega, Atypical Schizophrenia 4-week injection
Invega Sustenna (Sustenna)
Haloperidol Haldol, Haldol Typical Schizophrenia, Liquid, daily injec-
Decanoate Tourette syn- tion, monthly
drome, agita- injection
tion, severe
behavior
disorders
Pimozide Orap Typical Tourette syn- None
drome
Benzodiazepines Lorazepam Ativan Typical Anxiety Liquid, daily injec-
tion
Alprazolam Xanax, Xanax High Panic, anxiety None
XR potency
Clonazepam Klonopin, High Panic, anxiety Oral dissolving
Klonopin potency tablets
Wafers
Mood stabilizers Lithium carbon- Lithobid, Eska- Mood sta- Bipolar disorder Liquid
ate lith, Eskalith- bilizer (acute mania
CR and mainte-
nance)
Valproic acid Depakote, Antiepilep- Bipolar disorder Liquid, intrave-
Depakote tic drug nous, sprinkles
ER, Depacon,
Depakene
Carbamazepine Tegretol, Antiepilep- Bipolar disorder Chewable tablet,
Tegretol XR, tic drug liquid
Carbatrol,
Equetro
Oxcarbazepine Trileptal Antiepilep- Not FDA Liquid
tic drug approved yet
for bipolar
disorder, but
used
Lamotrigine Lamictal Antiepilep- Bipolar mainte- Chewable tablets
tic drug nance
Stimulants and Methylpheni- Ritalin, Ritalin Synthetic ADHD Sprinkles for
atomoxetine date-racemic LA, Metadate stimulant Ritalin LA and
mixture CD, Concerta, Metadate CD,
Daytrana transdermal
patch (Day-
trana)
Dexmethylphe- Focalin, Focalin Synthetic ADHD Sprinkles for XR
nidate XR stimulant
Dextroamphet- Dexedrine, Stimulant ADHD Chewable generic
amine Dexedrine ER tablet, ER
spansules spansule
Mixed amphet- Adderall, Stimulant ADHD Sprinkles for XR
amine salts Adderall XR
Modafanil Provigil, Sparlon Unknown ADHD (not FDA None
approved for
ADHD due to
concern about
Stevens-
Johnson syn-
drome)
Atomoxetine Strattera NRI ADHD, mainte- None
nance 6–14
years
Key: SSRI, selective serotonin reuptake inhibitor; OCD, obsessive-compulsive disorder; CR, controlled release; SNRI,
serotonin norepinephrine reuptake inhibitor; XR, extended release; SR, slow release; XL, extra long; ADHD, attention-deficit/
hyperactivity disorder; LA, long acting; TTS, transdermal system; ER, extended release; FDA, Food and Drug Administration;
CD, controlled delivery; NRI, norepinephrine reuptake inhibitor. For further information see Appendix C.
540 Robb
preventing future bipolar episodes. It is a salt Alvarez, N. (1998). Barbiturates in the treatment of epi-
that is excreted through the kidneys and causes lepsy in people with intellectual disability. Journal of
Intellectual Disabilities, 42(1), 16–23.
increased thirst and urination. It must be used Aman, M.G., Burrow, W.H., & Wolford, P.L. (1995).
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by the kidneys. Lithium toxicity can occur with treatment of children, adolescents and adults with
rapid onset if normal fluid intake is decreased, mental retardation and comorbid mental disorders.
for example with vomiting, diarrhea, or acute Journal of the American Academy of Child and Adolescent
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IV
Interventions,
Families, and
Outcomes
30 Early Intervention
Toby Long

■ Know the rationale for early intervention services
■ Understand the principles of early intervention
■ Be aware of the services and supports available for early intervention
■ Understand the components of federal legislation that support early
intervention
The provision of early intervention services intensive care unit, he was discharged home.
in virtually every community in the United Neurodevelopmental assessment just prior to
States shows society’s commitment to sup- discharge showed that his cognitive function
port infants and toddlers with developmen- was at a newborn level and he had markedly
tal disabilities and their families (Guralnick, increased tone in his legs. Based on these sig-
2005a). These programs in the United States nificant developmental delays he was referred
are usually provided in the context of federal
by his neonatologist to the local early interven-
early intervention legislation. Such legislation
tion program. After a comprehensive, multidis-
defines the structural components and prin-
ciples governing state-based early intervention ciplinary evaluation, he was determined eligible
systems for infants and toddlers (age birth to 3 for services, after which an intervention plan, the
years) with disabilities. Services and supports individualized family service plan, or IFSP, was
available include habilitation therapies, family developed. Carl attended a child care center;
counseling, and early childhood educational thus, the services he required, physical therapy
services. This array of services is provided in and special instruction, were provided at the
many settings, in collaboration with a variety center on a weekly basis. Additionally, each
of agencies, and utilizes various models of ser- provider arranged a home visit with Carl’s par-
vice delivery. ents once a month so that they could discuss
family concerns and priorities. Carl’s parents
■ ■ ■ CARL
and Carl’s early intervention staff and child care
Carl is a 6-month-old boy who was born at providers together have embedded creative
a gestational age of 26 weeks. After a diffi- activities and strategies into naturally occur-
cult 4-month hospitalization in the neonatal ring learning opportunities and routines. These
547
548 Long
encourage positive social relationships and help consistent evidence for long-term benefits is
Carl develop skills to reach his full potential. As limited. Current research on the effectiveness
a result of these interactions, Carl’s parents feel of early childhood interventions focuses on
increasingly confident and competent in caring determining which program elements are most
for Carl and in supporting his development. effective for which children and under which
circumstances. Research also investigates how
programs can produce the greatest benefits at
PRINCIPLES OF the lowest cost.
EARLY INTERVENTION
The primary goals of early intervention are Components of Part C
1) to support families in promoting their child’s of the Individuals with
optimal development, and 2) to facilitate the Disabilities Education
child’s participation in family and community Improvement Act: The
activities. Within those, intervention focuses Infants and Toddlers
on encouraging active participation of families
in the intervention by embedding strategies
with Disabilities Program
into home routines. To meet this goal early Based on research indicating that services
intervention services are delivered in a manner provided to young children could prevent or
that are ameliorate biological, social, and environmen-
• Family centered and culturally and linguis- tal risks on development (Guralnick, 2005b),
tically competent the 1986 amendments to the Individuals with
Disabilities Education Act (IDEA; then called
• Developmentally supportive, strengths based,
the Education of the Handicapped Children
and helpful for promoting children’s partici-
Act) included the establishment of the Infants
pation in their natural environments
and Toddlers Program or Early Intervention
• Comprehensive, coordinated, and team-based System. From its inception this part of the
• Individualized, flexible, and responsive to law was meant to be a system of cooperation
the changing needs of young children and and collaboration across child-serving sys-
families tems to provide comprehensive services and
• Based on the highest-quality evidence available supports to families with infants and toddlers
with disabilities or delays. The purposes of
the Infants and Toddlers Program, or Part C
RESEARCH SUPPORT FOR THE of IDEA, are stated in the supporting legisla-
VALUE OF EARLY INTERVENTION tion as follows:
1. To enhance the development of infants and
Research over the last 25 years indicates that toddlers with disabilities, to minimize their
intervention during early childhood achieves potential for developmental delay, and to rec-
immediate and sustained developmental ben- ognize the significant brain development that
efits (Center on the Developing Child at Har- occurs during a child’s first 3 years of life
vard University, 2010; Hebbler et al., 2007). 2. To reduce the educational costs to society,
Also, these benefits save money for the com- including our nation’s schools, by minimizing
munity and family over time (Guralnick, 2004). the need for special education and related ser-
Much scientific evidence demonstrates that vices after infants and toddlers with disabilities
early intervention programs generate impor- reach school age
tant benefits for both young children at risk for 3. To maximize the potential for individuals with
disability and for those with established disabil- disabilities to live independently in society
ities (Early Childhood Outcomes Center, 2011; 4. To enhance the capacity of families to meet the
Ramey, Ramey, & Lanzi, 2007; Ramey, Ramey special needs of their infants and toddlers with
& Lanzi, 2006). Numerous studies also have disabilities
identified that a decline in development can be
5. To enhance the capacity of States and local
prevented or at least mitigated through pro- agencies and service providers to identify,
viding comprehensive early intervention pro- evaluate, and meet the needs of all children,
grams (Guralnick, 2005b). It should be pointed particularly minority, low-income, inner city,
out, however, that individual and subgroup and rural children, and infants and toddlers in
responsiveness to early intervention varies, and foster care
Early Intervention 549
Each state must create a system that includes components are administrative in nature, address-
16 components (see Table 30.1). States are required ing interagency cooperation, reimbursement, and
to ensure that those individuals providing the ser- procedural safeguards, among others. In addi-
vices are appropriately qualified and that a cen- tion to policies that regulate procedures, financ-
tral directory of providers, services, and agencies ing, and professional standards, five components
is available to help identify resources of all kinds are specific to providing services and will be dis-
relevant to early intervention. Other structural cussed below. These include: 1) identification and
referral, 2) determination of eligibility, 3) devel-
opment of an IFSP, 4) provision of services, and
Table 30.1. Minimum components of a statewide, 5) transition from early intervention services at
comprehensive system of early intervention services age 3. Additionally, states are required to report
to infants and toddlers with special needs
the percentage of infants and toddlers with IFSPs
1. A rigorous definition of the term ”devel- who demonstrate improvement in three outcome
opmental delay” areas: social-emotional skills, acquisition and use
2. Appropriate early intervention services of knowledge and skills, and the ability to take
based on scientifically based research, to the
extent practicable, are available to all infants appropriate action to meet needs.
and toddlers with disabilities and their families,
including Native American and homeless infants Identification and Referral
and toddlers
Under Part C regulations of The Individu-
3. Timely and comprehensive multidis-
ciplinary evaluation of needs of children and als with Disabilities Education Improvement
family-directed identification of the needs of Act (IDEA) of 2004 (PL 108–446), states are
each family required to establish programs for finding and
4. Individualized family service plan and identifying infants and toddlers who may qualify
service coordination for services. These programs and procedures
5. Comprehensive child find and referral are referred to as Child Find. Child Find efforts
system
(http://www.childfindidea.org/) are most effec-
6. Public awareness program including the
preparation and dissemination of information
tive when coordinated with other early identi-
to be given to parents, and disseminating such fication programs such as Medicaid’s early and
information to parents periodic screening, diagnosis, and treatment
7. Central directory of services, resources, (EPSDT) program. Primary care providers are
and research and demonstration projects in a key position to identify young children who
8. Comprehensive system of personnel are at risk for or who have developmental delays
development, including the training of parapro- or disabilities (American Academy of Pediatrics,
fessionals and the training of primary referral
sources Committee on Children with Disabilities, 2010;
9. Policies and procedures to ensure that Sand et al., 2005).
personnel are appropriately and adequately Developmental screening is often the first
prepared and trained step in identifying and referring infants and tod-
10. Single line of authority in a lead agency dlers who could benefit from early intervention
designated or established by the governor services. When developmental screening occurs
11. Policy pertaining to contracting or other- in the context of a well-child medical visit, it
wise arranging for services
reinforces the concept that health and develop-
12. Procedure for securing timely reimburse-
ment of funds
ment are interrelated. Responding to parental
13. Procedural safeguards
concerns about a child’s development has been
14. System for compiling data on the early
shown to be as effective in identifying develop-
intervention system mental delay as professional opinion and/or stan-
15. State interagency coordinating council dardized screening (Glascoe, 2000). An infant or
16. Policies and procedures to ensure that to toddler can be referred to the local early inter-
the maximum extent appropriate, early interven- vention program directly by anyone (including a
tion services are provided in natural environ- relative or friend) who suspects that the child has
ments except when early intervention cannot be a developmental delay or disability.
achieved satisfactorily in a natural environment
Developmental screening is an option that
Adapted from Minimum Components Under IDEA for a state may choose to include as part of its com-
a Statewide, Comprehensive System of Early Intervention
Services to Infants and Toddlers with Special Needs prehensive Child Find system (IDEA, 2011). It
(Including American Indian and Homeless Infants and should involve the family and other sources of
Toddlers). National Early Childhood Technical Assistance
Center. Retrieved October, 10, 2010, from http://www.
information, using a process that is culturally
nectac.org. and linguistically sensitive. It should be reliable,
550 Long
valid, cost effective, and time efficient. It should (§303.310 [b, 2]). After a family is referred, a
be seen not only as a means of early identification service coordinator is assigned to partner with
but also as a service that helps the family under- the family to plan and coordinate all of the
stand the child’s developmental progress. Several steps leading to the development of a service
developmental screening tests are commercially plan, if appropriate. If the child is eligible the
available including 1) Ages & Stages Question- service coordinator will continue to assist the
naires®, Third Edition (ASQ-3™; Squires & family in coordinating services across agency
Bricker, 2009); 2) Denver II (Frankenburg et al., lines, serve as the single contact for parents/
1992); and 3) Parents’ Evaluations of Develop- families to obtain needed help and services,
mental Status (PEDS; Glascoe, 1997). assist families in gaining access to services
identified in the IFSP, and help the family
Determining Eligibility for through the transition process.
Early Intervention Services The eligibility evaluation process must be
timely, comprehensive, and multidisciplinary.
According to Part C of IDEA each state is indi-
Pertinent records relating to the child’s current
vidually required to define criteria by which a
health status as well as medical history must be
child is eligible to receive early intervention
reviewed. The evaluation includes assessing
services under the Part C system (note that
the child in five areas of development: physi-
infants and toddlers who do not meet the eli-
cal (including vision, hearing and gross and
gibility criteria for services under the state-run
fine motor development), cognitive, commu-
Part C program can receive services through
nication, social-emotional, and adaptive. The
other systems, such as directly at a clinic or
multidisciplinary evaluation team must include
through a private practitioner.)
a family member and two professionals repre-
Current federal regulations describe cat-
senting different disciplines or may include one
egories of eligibility: 1) the child demonstrates
individual who is qualified in more than one
a measurable developmental delay as defined
discipline or profession (§303.24). For example,
by each state, 2) the child has a diagnosed
the professionals might include an early child-
physical or mental condition that has a high
hood special educator and a speech-language
probability of resulting in developmental delay
pathologist, or perhaps a motor therapist
(e.g., child with Down syndrome), or 3) pro-
such as an occupational therapist or a physical
fessionals who are conducting the evaluation
therapist. The process must reflect the unique
determine that a child demonstrates behaviors
strengths and needs of the child. In addition,
indicating atypical development and could
family members provide information about
benefit from early intervention services and
their concerns, priorities, and resources that
supports, a process referred to as informed
may affect their child.
clinical opinion (e.g., a child suspected on
evaluation of having autism). The federal law, Development
IDEA, indicates that a child meets the defini-
tion of developmental delay if he or she has a
of an Individualized
“measurable delay in one or more of 5 areas Family Service Plan
(cognitive, physical, communication, social or If the child is found eligible for services through
emotional, adaptive).” States, however, decide the multidisciplinary child and family evalua-
how to define measurable delay. State-specific tion process, a multidisciplinary team, including
eligibility criteria can be found online (Shack- the parents, develops an IFSP, ensuring that the
elford, 2006). diverse services are identified and coordinated
A multidisciplinary team will conduct and relate to the outcomes decided by the team.
the eligibility evaluation to determine if a The array of services available in Part C includes
child meets the eligibility criteria. The pro- assistive technology devices and services; audiol-
cess often begins when the family first calls ogy; family training; health services; medical ser-
the infant and toddler program for assistance. vices only for diagnostic or evaluation purposes;
The program then makes a referral to the speech, physical, and occupational therapies; psy-
local agency that coordinates early interven- chological services; service coordination services;
tion services, assessment, eligibility determi- social work services; special instruction; trans-
nation, and the IFSP meeting, which must be portation and related costs; and vision services.
completed within 45 calendar days from the This list of services is not exhaustive. The IFSP
date that the family provides consent to the can identify other services if needed to meet the
initial screening, evaluation, or assessment outcomes identified on the IFSP (§303.13 [d]).
Services identified in the IFSP must be provided consultative and direct services. This approach
in the natural environment, which are defined in often departs from the traditional discipline-spe-
federal regulations (Sec.303.26) as “settings that cific model of a set frequency per week. Meaning-
are natural or normal for an infant or toddler ful outcomes go beyond specific disciplinary goals
without a disability, may include the home.” The to effectively address the child’s participation in
regulations further state that early intervention family and community activities and routines.
services must be provided in the natural envi- Different types of service as well as levels of
ronment to the maximum extent appropriate to service may be needed depending on the number
meet the needs of the child. However, natural of caregivers and the learning contexts. On the
environments are not limited to the home or any one hand, a biweekly visit with a parent and child
other place but include activities and routines who spend the day together at home may suf-
that offer naturally occurring learning opportu- fice to accomplish the desired outcome. On the
nities (DEC/NAEYC, 2009). The importance of other hand, a multiple-caregiver situation often
the IFSP is evident in the law’s detailed require- requires more frequent contacts to demonstrate
ments regarding the plan’s contents (Table 30.2). strategies and allow for more collaboration with
key adults. A flexible model might emphasize
Service Provision sequential rather than simultaneous services
According to the statement paper, Principles Table 30.2. Required elements of an individual-
and Practices in Natural Environments (Hurth ized family service plan
& Pletcher, 2007), “Part C early intervention
1. A statement of the infant’s or toddler’s
builds upon and provides supports and resources present levels of physical development, cogni-
to assist family members and caregivers to tive development, communication development,
enhance children’s learning and development social or emotional development, and adaptive
through everyday learning opportunities.” This development, based on objective criteria
mission is based on seven key principles that 2. A statement of the family’s resources,
priorities, and concerns relating to enhancing
underpin family-centered services and supports the development of the family’s infant or toddler
(Hurth & Pletcher, 2007; Table 30.3) and act with a disability
as guidelines on how early intervention services 3. A statement of the major outcomes
should be provided. expected to be achieved for the infant or tod-
The principles promote a flexible system dler and the family, and the criteria, procedures,
of service provision developed to respond to the and time lines used to determine the degree to
which progress toward achieving the outcomes
team-based outcomes and not just to the diag- is being made and whether modifications or
nosis or the child’s level of delay. Contemporary revisions of the outcomes or services are neces-
practice models that encompass the principles sary
described above as well as those defined by the 4. A statement of specific early intervention
Division of Early Childhood (Sandall, McLean, services necessary to meet the unique needs of
the infant or toddler and the family, including
Santos, & Smith, 2005) include routines-based the frequency, intensity, and method of deliver-
intervention (McWilliam & Scott, 2001), activity- ing services
based intervention (Pretti-Frontczak & Bricker, 5. A statement of the natural environments
2004; Valvano, 2004), context-based learning in which early intervention services shall appro-
opportunities (Dunst, 2001), and participation- priately be provided, including a justification of
based services (Campbell & Sawyer, 2007): the extent, if any, to which the services will not
be provided in a natural environment
1. The critical roles of families as teachers of 6. The projected dates for initiation of
their children and practitioners as facilita- services and the anticipated duration of the
tors and teachers of both families and their services
children 7. The identification of the service coordi-
nator from the professional most immediately
2. The use of common activities and routines relevant to the infant’s or toddler’s or family’s
as contexts for children’s learning (Chai, needs (or who is otherwise qualified to carry out
all applicable responsibilities under this part)
Zhang, & Bisberg, 2006; Stremel & Camp- who will be responsible for the implementation
bell, 2007) of the plan and coordination with other agencies
3. The need for practice and repetition in and persons
order for learning to occur (Ulrich, 2010) 8. The steps to be taken to support the
transition of the toddler with a disability to pre-
To be successful these models all require that school or other appropriate services
meaningful outcomes be identified and that early- Source: IDEA, Part C regulations 34 CFR §§303.342–
intervention professionals provide a spectrum of 303.345.
552 Long
Table 30.3. Key principles for providing early may need to move between home and hospital
intervention services in natural environments or from early intervention to preschool. Under
1. Infants and toddlers learn best through IDEA, young children will no longer be eligible
everyday experiences and interactions with to receive early intervention services at age 3.
familiar people in familiar contexts. Thus, the Part C system must begin, if needed,
2. All families, with the necessary supports to transition the child from the Part C system
and resources, can enhance their children’s
learning and development. at about 2 years, 6 months to early childhood
3. The primary role of a service provider in special education services, inclusive preschool
early intervention is to work with and support or child care programs, or to other appropriate
family members and caregivers in children’s services. Careful planning and preparation can
lives. ensure that change occurs in a timely and effec-
4. The early intervention process, from initial tive manner. Transition planning may also help
contacts through transition, must be dynamic
and individualized to reflect the child’s and fam-
to alleviate parental stress. To ensure a seamless
ily members’ preferences, learning styles and move from early intervention to other appro-
cultural beliefs. priate services and supports, the IFSP must
5. IFSP outcomes must be functional and include a transition plan.
based on children’s and families’ needs and
family-identified priorities.
6. The family’s priorities, needs and interests STATUS OF EARLY
are addressed most appropriately by a primary INTERVENTION SERVICES
provider who represents and receives team and
community support. It has now been over 25 years since the establish-
7. Interventions with young children and ment of a formal early intervention system in the
family members must be based on explicit
principles, validated practices, best available United States. Judged by usual standards, this
research, and relevant laws and regulations program has been successful. All 50 states and
Reprinted from Workgroup on Principles and Practices
jurisdictions are participating in Part C, meaning
in Natural Environments. (November 2007). Mission and that each of the required structural components
principles for providing services in natural environments. is in place. Moreover, the number of children
OSEP TA Community of Practice-Part C Settings. http://
www.nectac.org/topics/families/families.asp served continues to grow annually. Including
those at risk, approximately 342,821 children,
or 2.6% of the population under the age of 3,
received services under Part C of IDEA in 2010
or varying levels of intensity or frequency. For
(Danaher, Goode, & Lazara, 2011).
example, it may be beneficial to “front-load”
An analysis utilizing a nationally represen-
services, increasing the frequency of services
tative sample (N = 3,338) from the National
initially and then gradually decreasing them to
Early Intervention Longitudinal Study (NEILS)
weekly. Each outcome should have distinct ser-
also suggests that Part C is achieving its intended
vices, frequency, intensity, and location identified
goals. Overall, approximately 64% of children
prior to the implementation of the IFSP. Shift-
became eligible because of a developmental
ing to a flexible, outcomes-guided model that is
delay, 20% as a result of a diagnosed medi-
family-directed increases the likelihood that the
cal condition, and 16% due to biomedical and/
recommendations for services will emerge from
or environmental risk factors (Hebbeler et al.,
a thorough analysis of child and family priorities.
2007). It is also clear that the early intervention
This individualized, outcomes-driven model
system is reaching disadvantaged groups, as 43%
contrasts with the traditional model of provid-
of children receiving services live in households
ing a predetermined group of services by specific
with incomes less than $25,000 a year. Given the
disciplines that are driven by a particular disabil-
well-established association between disadvan-
ity rather than by the specific needs, priorities,
taged status and disability (Emerson, 2007) the
and concerns of the family (Colyvas, Sawyer, &
system’s ability to enroll large numbers of these
Campbell, 2010).
families is commendable.
Although the Part C program is serving
Transition from Early many children, over the last 10 years 20% of the
Intervention Services states have narrowed the eligibility criteria. Chil-
Transition is a process that children and fami- dren with milder disabilities and less significant
lies experience as they move from one program delays may actually be the ones who benefited
or setting to another. Families of young chil- most from early intervention services for which
dren with developmental delays and disabilities they are no longer eligible to receive (Hebbeler,
2010). Additionally, evidence exists to suggest those with mothers who graduated from college
that children are receiving fewer services and (Hebbeler et al., 2010).
supports to meet IFSP outcomes (Hebbeler, At kindergarten, 54% of children receiv-
Mallik, & Taylor, 2010). For example, a recent ing early intervention services were receiving
study in Texas indicated that although nation- special education services, 35% did not have
ally infants and toddlers receive an average of 6.5 a disability and thus did not receive additional
hours of early intervention services per month, services; however, 11% had a disability but were
the children in Texas receive only 2.7 hours not receiving special education or related ser-
(Hebbeler, Mallik, & Taylor, 2010). This trend vices (Hebbeler, 2010). Additionally, children
may be happening in other states as well due to who received early intervention but who were
financial restrictions. not receiving special education services were
In many respects, the early intervention sys- performing at peer level in reading and math
tem has proven highly responsive. The NEILS skills. Teachers reported that 37% of children
study indicated that critical events in the process receiving special education services had at least
occurred over a 7–8 month period. The average average academic skills (Hebbeler, 2010).
age in which critical points occurred include: Taken together, it is evident that a com-
first concern about child’s health or development prehensive early intervention system composed
(7.4 months), first diagnosis or identification of well-defined structural components can be
(8.8 months), first searched-for early interven- found in states and communities throughout the
tion (11.9 months) of age, first-referred early United States, providing services and supports
intervention (14.0 months), and age at which to increasing numbers of infants and toddlers
IFSP was developed (15.7 months; Bailey et al., and their families. However, it is recognized
2004, 2010). Moreover, most families found an that such a complex and evolving system can
early intervention program easily, with 79% of be substantially improved to more effectively
children receiving an IFSP within 10 weeks of and efficiently meet the needs of children and
referral (Bailey et al., 2004). The system was families (Dunst, 2007; Ramey, Ramey, & Lanzi,
not equally accessible to all families, however. 2007; Tomasellio, Manning, & Dulmus, 2010).
Minority or low-income families were more
likely to report that much effort was required to FUTURE CONSIDERATIONS
access the services (Hebbeler et al., 2010).
The NEILS data also revealed that fami- This section will discuss some current issues that
lies received numerous services offered in Part may in the future affect the effectiveness and effi-
C, with 37% receiving 6 services (Hebbeler et ciency of early intervention service delivery.
al., 2010). Of the specific intervention services,
52% receive speech and language therapy, Life Course
43% special instruction (i.e., early childhood A life course perspective (Halfon, Shonkoff,
education), 38% occupational therapy, 37% Boyce, & McEwen, 2009) posits that a complex
developmental monitoring, and 37% physi- interplay of biological, behavioral, psychologi-
cal therapy. The vast majority of the families cal, social, and environmental factors contrib-
receive services in their home (76%); however a ute to health and developmental outcomes
sizable number (28%) receive them in either a across the course of a person’s life. This finding
center-based early intervention setting or clinic extends recent social science and public health
setting. Despite these impressive service utiliza- literature that suggest that each life stage influ-
tion rates, the number of actual direct service ences the next, and that social, economic, and
hours turns out to be surprisingly quite small. physical environments interacting across the
NEILS data indicates that 63% of the families life course have a profound impact on individ-
received 2 hours or less per week, with the aver- ual and community health.
age being, as noted above, 6.5 hours per month. Research on the effectiveness of early
From the parents’ perspective, the ser- intervention and early childhood practices indi-
vices received have been satisfactory. Although cate that although the impact of intervention is
most families in the NEILS study had a positive substantial, many children and families still do
early-intervention experience, minority or low- not fare well (Hebbler, 2009). This especially
income families were slightly less positive. With surfaces when families are affected by multiple
regard to individualization of services, 61% of stressors such as disability, poverty, substance
the families with mothers who did not graduate abuse, and maternal depression (Shaw & Goode,
from high school reported that services were 2008). For early intervention programs to be
highly individualized compared with 69% of most successful for all children and families,
554 Long
a science-based approach that is responsive to professional teaches the family to execute a

variations in socio-cultural factors, health sta- specific strategy (Peterson et al., 2007). Inter-
tus, genetics, and neurobiology, to name a few, vention strategies that assist families and other
must be created (Halfon, Shonkoff, Boyce & caregivers to promote the child’s development
McEwen, 2009). In addition, evaluation plans within the context of naturally occurring learn-
must surpass the child-focused developmental ing opportunities are consistent with the con-
status to consider all factors that relate to suc- cept of natural environments and the intent
cessful adulthood, such as participation in soci- of family-centered early intervention (Bruder,
ety and health status. 2000; Peterson et al., 2007).
By focusing intervention on activities and
System of Care routines that individual families participate in
Approach to Service Delivery rather than on locations, the provider takes
advantage of natural learning opportunities
For implementation, the importance of coor- and the family’s role as teacher. One way to
dinating services was clearly recognized in Part accomplish this is through participation-based
C and was identified as a separate and required early intervention (Campbell & Sawyer, 2007;
service in the law. However, for service coordi- Colyvas, Sawyer & Campbell, 2010), which has
nation to be most effective, simply coordinat- a primary goal of promoting a child’s partici-
ing independent services, with the potential for pation in family and community activities and
duplication and redundancy, may not be opti- routines. In a participation-based approach,
mal. In such cases, the systems of care approach early intervention professionals intervene with
(Stroul & Freidman, 1986) that promote the a child by teaching caregivers how to use two
coordination of services across agencies and primary types of child interventions to promote
providers into a network of services and sup- the child’s participation and learning: 1) adapt-
ports may be more successful. Consistent with ing the environment, materials, or the activity/
the principles of early intervention, hallmarks of routine, including the use of assistive technol-
systems of care include a family-centered, indi- ogy; and 2) embedding individualized learning
vidualized, integrated system of supports. Col- strategies within family routines (Colyvas, Saw-
laborative consultation models that attempt to yer, & Campbell, 2010).
truly integrate services will achieve outcomes Other strategies, for example, activity-
that will likely be more functionally valuable for based intervention (Pretti-Frontczak & Bricker,
the child and family (Dunst et al., 2001; Hanft & 2004; Valvano & Rapport, 2006), emphasize
Pilkington, 2000). The increasingly diverse and that while intervention is within an activity,
complex array of services and supports required routine, and context, the target of intervention
by children and families pose special challenges is the child, promoting his or her skill develop-
to the systems of care (National Research Coun- ment. Routines-based intervention stresses the
cil & Institute of Medicine, 2000). This is espe- importance of engagement, independence, and
cially true when the services come from agencies social relationships within a naturally occur-
that are not commonly part of the early interven- ring child activity (McWilliam, 2010). Because
tion system, such as those related to the mental intervention with infants and toddlers is a col-
health of children and families. laborative process, often including multiple
caregivers, caregiver satisfaction or dissatisfac-
Natural Environments tion is stressed. Caregivers must indicate dis-
For infants and toddlers, Part C requires that satisfaction with the child’s performance if they
children and families receive services in “natu- are going to identify functional outcomes from
ral environments” to the extent possible. But which they can make adaptations or embed a
this has been very difficult to implement due to learning strategy. Dunst (2006) promoted the
barriers related to financing, definitional issues, use of contextually mediated practices as an
parent preferences, and provider resistance, approach to promote the child’s acquisition of
among others (Bruder, 2001; Rabb & Dunst, new skills, competence, and knowledge. Con-
2004). Yet, contemporary practice models sup- textually mediated practices use everyday fam-
port intervention in the natural environment by ily and community activities as the sources or
stressing the critical roles of the family as the “context” for learning.
child’s teacher and the early intervention pro-
vider as the family’s educator. Evidence-Based Practice
Traditional service delivery is child focused; Providing services based on scientific evi-
families often simply observe the service, or the dence is stressed in many disciplines including
medicine, therapeutic services, and education. of early intervention has demonstrated the
Evidence-based practice refers to the preferen- potential for achieving important benefits
tial use of interventions that are supported by for children and families. Nevertheless, fully
empirical research and describes the process implementing the principles that guide early
of finding and using scientifically based infor- intervention within a system of care that maxi-
mation to guide practice. In addition to using mizes intervention effectiveness has not been
known evidence-based strategies, evidence- achieved. As noted, this circumstance is to be
based practice incorporates critical thinking in expected in complex, evolving systems. Fortu-
order to systematically gather and synthesize nately, the meaning of those critical principles
many sources of information, to help make is now better understood, and the intercon-
decisions about a variety of practice and inter- nections among those principles is recognized.
vention questions including This provides clear directions to ensure that the
• What interventions or strategies are most system will continue to evolve to meet the needs
effective? of young vulnerable children and their families.
• How much intervention should a child
receive to achieve desired outcomes? REFERENCES
• What is the best way to provide information American Academy of Pediatrics, Committee on Chil-
and intervention to achieve the desired out- dren with Disabilities. (2010). Initiatives target
comes and support? developmental screening services. AAP News, 31, 24.
doi:10.1542/aapnews.2010311–24
The process is a logical system for defining Bailey, D., Hebbeler, K., Scarborough, A., Scarborough,
a problem and then finding the best available A., Spiker, D., & Mallik, S. (2004). First experiences
evidence to support decisions from research, with early intervention: A national perspective. Pedi-
experience, and family values about interven- atrics, 113, 887–896.
Bruder, M.B. (2000). Family-centered early interven-
tion, policies and practices. tion: Clarifying our values for the new millennium.
Increases in scientific knowledge have Topics in Early Childhood Special Education, 20, 105–115.
been able to identify best practices and elimi- Bruder, M.B. (2001). Inclusion of infants and toddlers:
nate those having little validity. The early Outcomes and ecology. In M.J. Guralnick (Ed.),
Early childhood inclusion: Focus on change (pp. 203–228).
intervention field has been subject to many
Baltimore, MD: Paul H. Brookes Publishing Co.
claims of dramatic successes that have subse- Campbell, P., & Sawyer, L.B. (2007). Supporting learn-
quently been exposed as poorly documented ing opportunities in natural settings through partic-
(Dunst, 2007). While Part C notes that inter- ipation-based services. Journal of Early Intervention,
ventions should be based on peer-reviewed, 29, 287–305.
Center on the Developing Child at Harvard University.
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be a major challenge for the early intervention childhood. Retrieved from http://developingchild.
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Chai, A.Y., Zhang, C., & Bisberg, M. (2006). Rethink-
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been the recent publication of clinical guide- examining various interpretations and approaches.
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the participation and activity-based strategies Daft, R., & Lengel, R. (1998). Fusion leadership. San
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(DEC) and the National Association for the Education
of Young Children (NAEYC). Chapel Hill, NC: The
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31 Special
Education Services
Elissa Batshaw Clair

■ Be knowledgeable about services and supports available for children with
disabilities
■ Understand the components of an individualized education program
■ Be aware of the history of special education services
■ Be familiar with the Individuals with Disabilities Education Improvement Act of
2004, The No Child Left Behind Act, and other legislation pertaining to educa-
tion for children with disabilities
■ Understand the roles of a special education teacher
Special education is defined by the Individuals impairments have the right to a FAPE in the
with Disabilities Education Improvement Act least restrictive environment (LRE).
of 2004 (IDEA 2004; PL 108–446) as “specially Before the enactment of the Education
designed instruction, at no cost to parents, to for All Handicapped Children Act of 1975 (PL
meet the unique needs of a child with a dis- 94-142), the educational needs of millions of
ability” (§ 602[29]). Special education includes children with disabilities were not being fully
direct educational instruction by a special edu- met. They did not receive appropriate educa-
cation teacher; related services such as language tional services, were excluded entirely from the
therapy, speech therapy, physical therapy, occu- public school system and from being educated
pational therapy, or social work services; para- with their peers, had undiagnosed disabilities
professional support; or consultation from a that prevented them from having a successful
special education professional to the general educational experience, or faced a lack of ade-
education teacher. All special education ser- quate resources within the public school system,
vices are individualized to provide the instruc- requireing them to find services outside of the
tion necessary to reach each child’s goals. IDEA public school system (PL 108-446 § [601][c][2]).
2004 guarantees a free appropriate public edu- Since the 1970s, legislation has attempted
cation (FAPE) for all children with disabilities to address each of these issues. Figure 31.1
ages 3–21. A zero-reject provision mandates summarizes the history of educational law prior
that even students who have severe and multiple to the current law, IDEA 2004.
559
560 Clair
Elementary and Secondary Education Act Attempted to correct unequal educational opportunities that
of 1965 (PL 89-10) resulted from a child’s economic condition
Education of the Handicapped Act (EHA) Amendment to earlier legislation that established a core grant
of 1970 (PL 91-230) program for local education agencies (LEAs) to provide
services for children with disabilities
Pennsylvania Association of Retarded PARC proved
Citizens (PARC) v. Commonwealth of • All children with intellectual disability are capable of benefit-
Pennsylvania (1971) ing from a program of education and training
• Education cannot be defined as only the provision of aca-
demic experiences for children
• Having undertaken to provide all children with a free appro-
priate public education (FAPE), the state could not deny
students with intellectual disability access to FAPE
• The earlier students with intellectual disability are provided
education, the better the predictable learning outcomes
(Yell, 1998).
Education for All Handicapped Children • Provided FAPE to all school-age children, regardless of their
Act of 1975 (PL 94-142) disability
• Was a funded program
• Defined the disabilities that would be covered and estab-
lished guidelines for fair evaluation and assessment
Education of the Handicapped Act • Extended special education services to infants and pre-
Amendments of 1986 (PL 99-457) schoolers
• Developed an individual family service plan (IFSP) for infants
and toddlers in early intervention programs (Mercer, 1997)
Individuals with Disabilities Education Act • Used person-first language and replaced the word handicap
(IDEA) of 1990 (PL 101-476) with disability
• Arranged for transition planning to occur to help students
progress from high school into adulthood (Mercer, 1997)
• Emphasized meeting the needs of ethnically and culturally
diverse children with disabilities
• Indicated early intervention programs to address the needs
of children who were exposed prenatally to maternal sub-
stance abuse (Mercer, 1997)
Individuals with Disabilities Education Act • Strengthened the role of parents
Amendments of 1997 (IDEA ’97; PL • Gave increased attention to racial, ethnic, and linguistic
105-17) diversity to prevent inappropriate identification and
mislabeling
• Ensured that schools are safe and conducive to learning
• Encouraged parents and educators to work out their differ-
ences by using nonadversarial means
Figure 31.1. History of educational law prior to the current law, the Individuals with Disabilities Education Improvement Act of
2004 (IDEA 2004; PL 108-446).
Special Education Services 561
■ ■ ■ JOHN John made good progress in this program

and was reassessed regularly so that his IEP
John did not walk or speak his first word until could be adjusted. When John was 16 years
18 months. As a toddler, John received speech old, he began the transition planning process
therapy in his home once per week in accor- mandated by IDEA. With his input during a tran-
dance with an individualized family service plan sition-planning inventory, a transition IEP was
(IFSP) provided under Part C (Infants and Tod- developed. John was very interested in cook-
dlers with Disabilities) of IDEA. These services ing, often preparing creative meals at home.
were designed to help John’s parents facilitate He chose to attend prevocational food service
their son’s communication skills. When John classes in addition to his academic courses. The
entered kindergarten, he was soon identified high school offered career cluster experiences
as having significant delays compared with his in culinary arts, and John continued taking voca-
classmates and as needing assessment for spe- tional classes, honing his skills as a chef. With
cial education services. His parents gave per- the help of a job coach provided by the Bureau
mission for testing, which showed him to be of Vocational Rehabilitation, John secured a
functioning in the range of mild intellectual dis- summer job at a local restaurant. He continued
abilities. He was thus eligible for special educa- in his school program through age 21 because
tion services. special education legislation offers services
An individualized educational program through this age for students with disabilities
(IEP) was developed with input from a team con- who 1) have not earned all of their credits toward
sisting of a psychologist, a general education graduation, 2) need additional transition ser-
teacher, a special education teacher, a speech- vices, or 3) are earning an alternative certificate
language pathologist, and John’s parents. The rather than a general education diploma. Begin-
IEP identified the goals for John, the amount of ning in eleventh grade, when John was 17, he
time he would receive special education services, worked half days at the restaurant while continu-
and the related services that would be provided ing to attend school part-time. At 20 years old,
to support his educational progress. he enrolled in culinary classes at a community
The IEP team reviewed information from college as part of his ITP. At 21, he completed
his most recent evaluation as well as data col- his public education, receiving a diploma, and
lected by teachers, parental input, and IEP was subsequently hired full-time as an assistant
team discussion. The IEP team determined that chef at the restaurant.
the most appropriate placement for John was
in an inclusive environment in a class contain- ELIGIBILITY FOR
ing children both with and without disabilities. SPECIAL EDUCATION
The class was cotaught by both a general edu-
cation and special education teacher working Eligibility for special education services is
together. Ideally this class would be cotaught defined by IDEA 2004. Two other laws, Sec-
throughout the entire day, but it is more typi- tion 504 of the Rehabilitation Act of 1973 (PL
cal for classes to be cotaught for portions of the
93-112) and the Americans with Disabilities Act
(ADA) of 2008 (PL 110-325), also contribute to
day, with only the general education teacher
this concept. Another law affecting special edu-
teaching other portions. The class contained cation but not directly pertaining to eligibility,
children with and without disabilities. The two the No Child Left Behind (NCLB) Act of 2001,
teachers worked together so that all children will be addressed later in this chapter.
could have access to the same core curriculum,
with differentiated instruction and modifica- Individuals with Disabilities
tions to the schoolwork. The team also decided Education Improvement Act of 2004
that John would require related services from a For a child to receive special education services,
speech-language pathologist. Sometimes this he or she must have a physical, cognitive, or
therapist would teach a lesson to all or part of behavioral impairment that interferes with the
the class; at other times, she worked with John ability to benefit from instruction in the general
individually. classroom curriculum. The specific disabilities
562 Clair
recognized by IDEA 2004 legislation (§ 602[3] creates access to physical barriers. An example
[a]) fall under the following categories of this is mandating an elevator or lift in a school
• Intellectual disability building if needed for a student with a physical
disability. Section 504 of the Rehabilitation Act
• Hearing impairments (including deafness)
of 1973 creates access to programmatic needs.
• Speech or language impairments An example of this is requiring a place to rest
• Visual impairments (including blindness) and shortened assignments if needed for a stu-
• Emotional disturbances dent with narcolepsy.
The definition of disability is broader
• Orthopedic impairments under Section 504 than under IDEA 2004.
• Autism Although Section 504 covers the majority of
• Traumatic brain injury students covered by IDEA 2004, the reverse
is not the case. Specifically, Section 504 pro-
• Other health impairments (including chronic
tects persons who have a physical or men-
diseases and attention-deficit/hyperactivity
tal impairment that substantially limits one
disorder [ADHD] if they impair educational
or more major life activities, have a record
performance)
of such impairment, or are regarded as hav-
• Specific learning disabilities ing such impairment. Examples of major life
• Young child with a developmental delay activities include functions such as caring for
(ages 3–9) oneself, performing manual tasks, walking,
Autism is the fastest growing of these cat- seeing, hearing, speaking, breathing, learning,
egories. For the 2002–2003 school year there and working (34 C.F.R. 104.3[j][2][ii]). Con-
were 137,000 students identified with autism. gress further refined this list to include eating,
This accounted for 1.8% of the special educa- sleeping, standing, lifting, bending, reading,
tion population and 0.2% of the general popula- concentrating, thinking, and communicating
tion. For the 2007–2008 school year there were (US Department of Education, 2009). The
296,000 students identified with autism. This following are examples of students who may
accounted for 4.5% of the special education be covered by Section 504 to receive special
population and 0.6% of the general population. education services but not by IDEA 2004:
(U.S. Department of Education, 2009). Students • Students with communicable diseases (e.g.,
who qualify as having a disability under IDEA HIV)
are provided services through an IEP. • Students who use alcohol
Section 504 of the • Students with temporary disabilities result-
ing from accidents who may need short-term
Rehabilitation Act of 1973 hospitalizations or homebound recovery
and the Americans with Disabilities
• Pregnant students
Act Amendments Act of 2008
• Students with attention disorders without
The basic concept of IDEA is that of zero- significant academic deficiencies
reject—in other words, that the public school
system must accommodate or find alternate • Students with Tourette syndrome, epilepsy,
accommodations at public expense for every or cancer
child with disabilities. If a child does not satisfy
the IDEA 2004 criteria for disabilities, he or Attention-Deficit/Hyperactivity
she may still receive special education services Disorder: IDEA or 504
through Section 504 of the Rehabilitation Act Children diagnosed with ADHD may require
of 1973 (PL 93-112) or the ADA of 2008 (PL services under IDEA in the category of Other
110-325), of which the objectives and language Health Impairment, services under Section 504
are very similar. These two acts are intended of the Rehabilitation Act, or may not require
to establish a “level playing field” by eliminat- any services that differ from other students at
ing barriers that exclude people with disabili- their school. Making the decision whether a
ties from participation in the community and child requires an IEP or a 504 plan is individual
workplace. They attempt to eliminate hurdles and based on a team decision after weighing
and discrimination that prevent or hamper par- that child’s unique strengths and weaknesses.
ticipation, whether physical (e.g., steps instead Examples of educational needs that may require
of ramps) or programmatic (e.g., exclusion of a accommodations, modifications, or instruction
child with HIV from the classroom). The ADA in students with ADHD include the following:
• Difficulty sustaining attention during instruc- placing the child in a special education pro-
tion or when presented with long assignments gram; this must be obtained separately. A child
• Difficulty following multistep directions is usually evaluated by a multidisciplinary team
(working memory) consisting of a psychologist and one or more of
the following education professionals: speech-
• Misplacing assignments/supplies
language pathologist, occupational therapist,
• Difficulty completing long-term assignments physical therapist, and/or social worker. The
(organization) evaluation team should use a comprehen-
• Behavior problems (impulsivity, oppositional sive assessment process to address the child’s
defiant behavior) strengths, interests, goals, and needs in order
When deciding between an IDEA diag- to determine whether and which special educa-
nosis and a 504 plan, the team should consider tion services are required. The evaluation may
whether the student needs accommodations, include tests of intelligence, academic skills,
modifications, or specialized instruction to memory, visual-motor integration, adaptive
allow him or her access to the general educa- behavior, reading, math, social-emotional skills,
tion curriculum. For students whose needs can motor skills, sensory integration, and language.
be served by accommodations, the team may For children whose cognitive functioning is at a
determine that a 504 plan is the most appro- preschool level, testing focuses on communica-
priate action. Accommodations for students tion, social, and adaptive skills.
with ADHD may include, for example, hav- The multidisciplinary team must follow
ing assignments shortened without changing specific guidelines during the child’s evaluation.
the difficulty level, having multistep directions These guidelines were created in response to
written down, or writing assignments in a daily certain faulty evaluation practices in the past,
planner. For students who need specialized which led to many children (especially minor-
instruction, the team may determine that an ity children; see section called Overrepresenta-
IEP will most appropriately address deficits in tion) being incorrectly diagnosed and placed in
social skills, self-monitoring, accessing mem- special education. Many minority children who
ory, regulating alertness, or sustaining effort. functioned appropriately outside of school were
For students who require modifications such classified as “intellectually disabled” based on a
as lowering the difficulty level of assignments single IQ test. These children became known as
or shortening assignments so that integral por- “6-hour retarded” children (Skiba et al., 2008).
tions are omitted, the team may develop an IEP With this in mind, a number of mandates for
after carefully weighing both options and con- nondiscriminatory evaluation procedures were
sidering additional factors. installed as part of IDEA 2004. The key man-
dates are 1) that a number of tests must be used
to determine whether the child has a disability,
Other Factors That Define Disability and 2) that parental input must be included (PL
108-466, § 614[a][2][A–C] and 614[b][3][A]).
Nondiscriminatory With increasing concerns about the ris-
Assessment and Eligibility ing number of students classified as having a
Public schools are obligated to provide a non- learning disability, IDEA 2004 prohibits eli-
discriminatory evaluation for any child sus- gibility decisions from being made based on
pected of having a disability. This includes a lack of instruction or as a result of limited
children enrolled in private schools and chil- English proficiency (PL 108-446, § 614 [b][5]
dren ages 3–5 years who are not yet registered [A–C]). Reevaluation of a child with a disability
for school. Implementing this requirement var- is required to take place no more than once per
ies from state to state. In addition to having year or less than once every 3 years, unless the
access to official preschool Child Find (early parent and local education agency agree that
intervention) programs, generally parents can the timelines should be altered.
bring their child to the local school district and
request an evaluation. The stated purpose of Overrepresentation
the initial evaluation is to determine whether a One of the goals of IDEA 2004 is to reduce
child has a disability and, if present, to establish the overrepresentation of minorities in special
the child’s educational needs (PL 108–446, §§ education. African Americans have the highest
612 [a][10][A][ii] and § 614[a] [1][A]). level of overrepresentation; this is most pro-
Parents must consent prior to an evalua- nounced in the areas of intellectual disability
tion. This consent, however, is not consent for and emotional disturbance. African American
564 Clair
students make up 31% of the population with difficulty learning at the same rate as their
intellectual disabilities in public schools and peers. Students with learning difficulties are
29% of the population with emotional distur- provided supplementary instruction within
bance, although they represent only 17% of the general education, with special education being
overall population (U.S. Department of Educa- the final rung on the ladder of support. RTI
tion, 2008). Within the population of children also concerns the diagnosis of students with
with disabilities, African American students are SLD. RTI was introduced by IDEA 2004 as an
also overrepresented in the more restricted set- alternate and preferred method for diagnosing
tings over a range of disabilities (Skiba et al., children with SLD. It is likely when IDEA is
2006). In 2008 African American students made next reauthorized, RTI will be the only accept-
up 20% of the population receiving special able method for diagnosing SLD. As noted by
education services but 28% of the population VanDerHeyden and Burns, RTI includes
spending 40% or less of the day in general edu-
cation (US Department of Education, 2008). (a) quality core instruction; (b) universal screen-
Although many posit that poverty may be the ing; (c) progress monitoring for students identi-
fied with difficulties; (d) increasingly intensive
underlying cause of overrepresentation, Skiba
interventions implemented based on student
et al. found that rates of free-lunch status was need; and (e) resulting data used to instructional,
a weak predictor of overrepresentation of Afri- resource allocation, placement and special educa-
can American students. In fact, they found tion identification decisions. (2010, p. 6)
that as poverty decreases, overrepresentation
increases. However, race (white) and limited The RTI model is a three-tier model.
classroom management skills of teachers are About 80% of students fall in Tier 1; these are
both strongly linked to overrepresentation of students that respond to the research-based
minority students (Harry & Klingner, 2006; instruction provided in the classroom and per-
Skiba et al., 2005). form near grade level or above.
In contrast, the Latino and Native Ameri- About 20% of students are serviced in Tier
can populations are proportionately represented 2; these are students performing below grade
in special education (20% and 20% for Latino level. Tier 2 students are provided with research-
and 1% and 1% for Native American), and Asian based small-group instruction in deficit areas in
Americans are underrepresented in special educa- addition to the instruction they receive in the
tion (2.3% in special education and 4.7% of the classroom. With this additional instruction, they
population; U.S. Department of Education, 2008). make progress at a rate that will allow them to
catch up with their peers. Some Tier 2 students
Evaluation under Discrepancy Model gain the requisite skills they were lacking and
In the past, students were diagnosed with a no longer require additional instruction; these
specific learning disability (SLD) based on students return to Tier 1. Some Tier 2 students
a discrepancy between their ability (IQ) and make appropriate progress but require addi-
academic achievement (generally one to two tional instruction to continue their gains; these
standard deviations) on standardized tests. The students remain on Tier 2.
discrepancy model is often called the “wait to About one quarter of Tier 2 students (5%
fail” model; as a child ages, he or she will fall far of the general population) do not progress at a
enough behind to have a significant difference rate that allows them to approximate typical stu-
between his or her ability (IQ) and achieve- dent performance. These students require more
ment, and the school will finally be permitted to intensive services and move to Tier 3. At Tier
provide special education services at that time. 3, students receive smaller group or individual
This delays receipt of necessary services for the instruction targeted to meet their unique areas of
student. Studies have also indicated that the weakness in addition to the services they receive
discrepancy model was not applied with fidelity on Tiers 1 and 2 (Daly, Martens, Barnett, Witt,
and that many students were identified as hav- & Olson, 2007; Glover & DiPerna, 2007; Shinn,
ing SLD without having met the discrepancy 2007; VanDerHeyden & Burns, 2010).
criteria either because of political reasons or
because of a lack of resources in general educa- Evaluation Under the
tion (VanDerHeyden & Burns, 2010). Response to Intervention Model
Within the response to intervention (RTI)
Response to Intervention model, when a student does not make adequate
Response to intervention (RTI) represents progress at Tier 3, he or she may be consid-
a shift in thinking about students who have ered for a special education evaluation. Both
discrepancy and RTI evaluations are compre- requiring less-challenging spelling concepts. The
hensive as guaranteed by IDEA. In states or dis- student is responsible for learning 5 -it spelling
tricts that use the RTI model for instruction but words, such as sit, while his classmates are respon-
not for evaluation, a discrepancy analysis evalua- sible for 10 -tion words, such as conversation.
tion will likely be used as part of the comprehen- Curriculum modifications in reading may
sive evaluation. For states/districts that use RTI involve approximations of grade level curricu-
for evaluation, a different route is taken within lum such as Hi/Lo readers for students with mild
the comprehensive evaluation and generally does disabilities. Hi/Lo readers allow access to high-
not involve any measure of cognition. content literature (e.g., Gulliver’s Travels) at a low
reading level. Students with moderate disabilities
Dual Discrepancy Model may access reading curriculum through activities
The most common RTI evaluation method is such as reading recipes and defining cooking
called the dual discrepancy model. It is called a terms (Collins, Karl, Riggs, Galloway, & Hager,
dual discrepancy model because both a student’s 2010). Cooper-Duffy, Szedia, and Hyer (2010)
level of progress and rate of progress are used propose a modified reading curriculum for stu-
to make a SLD determination. A Tier 3 student dents with severe disabilities that requires the
who continues to function at a level significantly student to “stamp his name using a stamp, dem-
below his or her peers and has a rate of progress onstrate awareness that a story is being read to
at least one standard deviation below progress him, [or] go to the bookshelf to select a book he
levels of typically developing peers would qual- likes” (p. 34).
ify as a student with a SLD. An alternate RTI
evaluation method qualifies a student as having Inclusion Practices
a SLD when that student is making progress at A number of practices have been developed
Tier 3 but needs a level of service that approxi- to accomplish the goal of inclusion. Inclusion
mates special education and can no longer be refers to educating persons with disabilities
maintained using only general education services alongside students without disabilities. Such
(Shinn, 2007; VanDerHeyden & Burns, 2010). students attend neighborhood schools and gen-
eral education classes with the necessary accom-
SPECIAL EDUCATION: modations, modifications, and supplemental
A DESCRIPTION supports (Williamson, McLeskey, Hoppey, &
Rentz, 2006).
Accommodations and Modifications
Students with disabilities can be supported
Specialized Instructional Methods
within the general education curriculum in many One instructional method beneficial to students
different ways, among which are accommoda- with disabilities within the general education
tions and curriculum modifications. environment is cooperative learning, a term
Accommodations are changes in the way a that describes a range of team-based learn-
student has access to the curriculum or demon- ing strategies. Students are divided into small
strates learning. Accommodations provide equal teams with varying abilities and are assigned a
access to learning, do not substantially change task that they complete together. Team mem-
the instructional level or content, are based on bers monitor, assist, and provide each other
individual strengths and needs, and may vary in with feedback. Methods such as direct instruc-
intensity or degree. An example of this would tion, small-group instruction, and independent
be reducing a spelling list that teaches the con- practice are combined with cooperative learn-
cept of the -it ending from 10 words to 5 words. ing to teach skills and information. Cooperative
The student with a disability is responsible for learning is successful in teaching both academic
learning the same material as the students with- and social skills (Downing, 2003; Fore, Riser, &
out disabilities, although with a reduced output. Boon, 2006).
Other examples include reading directions to Another strategy is peer tutoring, which
the student, providing extended time to com- provides students opportunities to support each
plete assignments, providing study aids, giving other as they practice to attain mastery of mate-
frequent reminders of rules, providing taped rial initially taught by the teacher. Peer tutoring
texts, and giving note-taking assistance. may occur as part of a classwide program such as
Modifications to curriculum provide mate- Peer Assisted Learning Strategies (PALS). PALS
rial that substantially changes the general edu- are codified programs for a variety of subjects
cation curriculum. An example of this would be with set instructional materials, routines, and
566 Clair
guidelines for practice. These programs allow related services is defined as “transportation
students to master complex skills such as read- and such developmental, corrective, and other
ing comprehension (McMaster, Fuchs, & Fuchs, supportive services … as may be required to
2006; Stenhoff, & Lignuaris/Kraft, 2007). Alter- assist a child with a disability to benefit from
nately, peer tutoring can be more informal, with special education” (PL 108- 446, § 601[26]).
the stronger student reviewing rote material According to IDEA 2004 (PL 108-446, §
such as spelling words or multiplication facts. 602[26]), these services include the following:
Two of the most successful instructional • Speech-language pathology and audiology
methods for increasing proficiency in students services
with disabilities are direct instruction (DI)
• Psychological services
and cognitive strategy instruction (CSI). DI
is a codified approach to teacher-led instruction • Physical and occupational therapy
that provides explicit instruction with teacher • Recreation, including therapeutic recreation
modeling, extensive practice through choral • Social work services
response, brisk pacing, and immediate correc-
tive feedback. The DI technique is very success- • Counseling services, including rehabilita-
ful for teaching fundamental reading skills, and tion counseling
building reading fluency and reading compre- • Orientation and mobility services, including
hension (Tomas & Axelrod 2005). therapeutic recreation
CSI is beneficial when teaching more • Medical services
complex material involving problem solving
• Nurse services
and decision making. CSI teaches metacog-
nitive strategies (thinking about thinking) to Table 31.1 summarizes the types of related
improve learning and performance. Montague services that may be provided for individuals by
and Dietz (2009) found that “students with disability.
learning disabilities have not acquired strategies
that facilitate problem solving or may have dif-
THE INDIVIDUALIZED
ficulty selecting strategies” (p 285). CSI teaches
students to approach problems the way that EDUCATION PROGAM
higher-achieving students solve problems. Like
DI, CSI is also teacher-modeled and highly The IEP consists of the educational services a
structured, with immediate corrective feedback. child will receive and the expected achievement
The CSI model has six stages, as described by goals with the support of these services, over the
Montague and Dietz (p. 286): course of the school year. According to IDEA
2004, these goals must be developed based on
1. Developing and activating background knowl- the strengths of the child; the concerns of the
edge
parents; the results of the most recent evaluation
2. Discussing the strategy of the child; and the academic, developmental,
3. Modeling the strategy and functional needs of the child (§ 614[d][3]
4. Memorizing the strategy [A]). A new IEP must be written at least once per
year and should be modified as often as needed
5. Supporting the strategy (e.g., guided practice based on an assessment of the child’s progress;
using scaffolded instructional techniques)
however, pilot programs have been commis-
6. Performing independently sioned to develop an IEP that lasts up to 3 years.
POSSE (Predict, Organize, Search, Sum- In addition, an IEP can now be amended when
marize, Evaluate) and SQ3R (Survey, Question, changes are necessary (as opposed to rewriting
Read, Recite, Review) are commonly used CSI the entire IEP) if the changes are covered within
methods that guide struggling learners through the time frame of the original IEP.
the process of strategic reading (Jitendra, Bur-
gess, & Gajria, 2011). Format and Content
The law is very specific about what must be
Related Services included in an IEP. According to IDEA 2004,
Within Special Education an IEP must contain the following items (PL
In addition to the academic services provided 108-446, § 614 [d][1][A]):
by the teacher, children with disabilities are • A statement of the child’s present level
eligible to receive related services. The term of academic achievement and functional
Table 31.1. Examples of disabilities and typical related services provided
Services
Behavior Vision
Speech- support Occu- (orientation
language and Physical pational and Assistive Medical
Disability pathology Audiology counseling therapy therapy mobility) Social work technology Transportation services
Vision impairment X X X X X X
Hearing impairment X X X X X X
Intellectual disability X X X X X X
Autism X X X X X X
Attention-deficit/hyperactivity X X X X
disorder
Learning disabilities X X X
Cerebral palsy X X X X X X X X X
Traumatic brain injury X X X X X X X X

567
568 Clair
performance and how the child’s disability benefited academically and socially from being
affects participation in the general curriculum educated in an inclusive environment (William-
• A statement of measurable annual goals, son, McLeskey, Hoppey, & Rentz, 2006). IDEA
including academic and functional goals clearly states that the need for modifications to
the general education curriculum is by itself not
• A description of how the child’s progress
a valid reason for placing a student in a more
toward the annual goals will be measured
restrictive educational setting. According to the
• A statement of the special education, related Office of Special Education and Rehabilitative
services, and supplementary aids and ser- Services (OSERS; 1994), appropriately placing a
vices, based on peer-reviewed research to student is made on a case-by-case basis based on:
the extent practicable, that will be provided
to the child or on behalf of the child …that child’s unique level of educational benefits
available to the disabled student in a traditional
• A statement of modifications or supports for classroom, supplemented with appropriate aids
school personnel that will be provided for and services, in comparison to the educational
the child benefits to the disabled student from a special
• An explanation of the extent, if any, to which education classroom; the non-academic benefits
the child will not participate with children to the disabled student from interacting with non-
who do not have disabilities in the general disabled students; and the degree of disruption of
the education of other students, resulting in the
education classroom
inability to meet the unique needs of the disabled
• A statement of any individual modifications student.
that are needed for the child to participate
in state- or districtwide assessments of stu- There has been great improvement in
dent achievement reducing the time students spend in separate
settings for special education. Between 1989
• A statement of the projected date for the
and 2007, the percentage of students with dis-
beginning of the services and modifications,
abilities receiving services inside of the gen-
along with descriptions and an indication
eral education environment for 80% or more
of the anticipated frequency, location, and
of the day almost doubled, from 31%–57%
duration of those services and modifications
(U.S. Department of Education, 2009). Table
• A statement for students 16 years or older of 31.2 summarizes the different approaches and
postsecondary goals based on age-appropriate environments for providing special education
transition assessments related to training, services and the distribution of students within
education, employment, and, when appro- these environments.
priate, independent living skills
Development of Annual Goals
Personnel and Benchmarks or Objectives
Members of an IEP team include the parent(s), IDEA 2004 requires the development of mea-
the child (when appropriate), the special educa- surable annual goals to enable parents and edu-
tion teacher, representatives of related services cators to determine a student’s progress. These
such as therapists and social workers, the gen- goals should address both academic and nonac-
eral education teacher (if the student is likely ademic concerns and be based on the student’s
to participate in the general education environ- current education and behavior level. Parents
ment), an interpreter if needed, a representative of children with disabilities are to be informed
of the LEA (Local Educational Agency), and an of their child’s progress as often as are parents
individual who can interpret evaluation results of children without disabilities. Therefore, if
(PL 108-446, § 614 [d] [1][B] [i–vii]). general education report cards are distributed
quarterly, reports on goal progress must also be
Establishment of the distributed quarterly. Progress toward reaching
Least Restrictive Environment annual goals does not necessarily require a let-
IDEA 2004 emphasizes that the general edu- ter grade but can be performance based or crite-
cation classroom is the appropriate beginning rion referenced and can be rated on a spectrum,
point for planning an IEP. A more restrictive for example, from “no progress” to “goal met.”
placement should be considered only when par- In addition to goals, students who participate
ticipation in the general education classroom is in alternative assessments require benchmarks
demonstrably not beneficial to the student. Even that delineate smaller steps needed to meet the
students with severe cognitive impairment have goal (Federal Register, §300.320[a][2][ii]). If the
Table 31.2. Levels of educational placement, from least to most restrictive

% of all students
Environment with disabilities Means of service provision
0%–21% of the day All disabilities 57 General education class with consulting special educa-
spent in a special Learning disabilities 59 tion teacher or related services provider, services
education setting with or without special materials: A special educa-
Speech/language impair-
tion teacher or related services provider assists the
ments 87
general education teacher in adapting the general
Emotional disturbance 37 education curriculum to best meet the needs of the
Intellectual disability 16 child with a disability. The special education profes-
Other health impairment 59 sional may come into the classroom to work directly
with the child. The special education teacher may
coteach class with the general education teacher.
Modified general education class: The child receives
services from a special education teacher and/or
related services provider (e.g. physical therapist,
occupational therapist, speech-language patholo-
gist) outside of the general education setting for a
small (<22%) portion of the day.
22%–60% of the day All disabilities 22.4 General education class with resource services: The
spent in a special Learning disabilities 30 child typically joins a small group of students in a
education setting separate classroom (21%–60% of the school day)
to work on areas of need with a special education
ments 6
teacher or related services provider.
Emotional disturbance 20
Intellectual disability 27
Other health impairment 25
61%–100% of the All disabilities 15 Self-contained environment: The child is in a separate

day spent in a Learning disabilities 9 special education class for the majority (61%–100%)
special education of the school day but typically has lunch and non-
setting academic classes with peers without disabilities.
ments 4.5
Emotional disturbance 24
Intellectual disability 49
Other health impairment 12
100% of the day All disabilities 3 Special day school: The child attends a school that
spent in a special Multiple disabilities 20 serves only children with disabilities, and he or she
education setting spends no time during the school day with children
Deaf blind 21
without disabilities.
All disabilities 0.4 Residential school: The child attends an overnight

special education program.
All disabilities 0.4 Hospital or home instruction: The child is unable to

attend school and is educated in the hospital during
a hospital stay or receives services at home.
Sources: Mercer (1997); U.S. Department of Education, Office of Special Education and Rehabilitative Services (2009); and
Ysseldyke and Algozzine (1995).
annual goal is that “David” will achieve a fifth- 2. By October, when given 20 unfamiliar words
grade level reading score or above, as measured that contain long-vowel sounds, David will
by the Qualitative Reading Inventory (QRI), decode them with 90% accuracy on each of
benchmarks delineating the path to that goal 5 trials.
may look like the following (NICHCY, 2010):
3. By December, David will correctly pronounce
Short-Term Objectives 20 words with 90% accuracy on each of 5 tri-
1. By October, when given a list of 20 unfamiliar als to demonstrate understanding of the rule
words that contain short-vowel sounds, David that where one vowel follows another, the first
will decode them with 90% accuracy on each vowel is pronounced with a long sound and
of 5 trials. the second vowel is silent (ordeal, coast).
570 Clair
4. By December, David will correctly separate 20 service professionals (as discussed in section
words by syllables with 90% accuracy on each Related Services Within Special Education).
of 5 trials to demonstrate understanding of the Special education teachers spend the major-
[syllable-separation rule]. ity of their time directly instructing children
with disabilities. The balance of time is spent
The Transition Individualized creating, adapting, and modifying materials for
Educational Program special education students, maintaining IDEA
An adolescent with a disability needs to start documentation, and collaborating with general
preparing for life in the community (see Chap- education teachers (Vannest & Hagan-Burke,
ter 40). According to IDEA 2004, the plans for 2010). As an IEP manager, the special educa-
meeting this goal may include preparing for tion teacher is responsible for leading the team
“post-secondary education, vocational train- developing the IEP in accordance with the
ing, integrated employment (including sup- child’s needs, interacting with families, and
ported employment), competitive employment, ensuring that the IEP is followed with integrity
continuing and adult education, adult services, by general education staff, paraprofessionals,
independent living, or community participa- and related service providers.
tion” (§ 602[30][A]). Special education teachers instruct in aca-
Beginning at age 16 (though it is widely demic, functional skills and in behavioral areas.
recommended to start sooner), a formal transi- In academics, they teach the same material or
tion IEP must be prepared and should be based content (for moderate to severe impairments)
on the individual student’s needs, interests, and as is taught in the general education curricu-
choices. According to the National Center for lum, but with accommodations and modifica-
Learning Disabilities (2009), it must include tions (as discussed in the previously covered
• Development of appropriate measurable post- section, Accommodations and Modifications)
secondary goals based upon age appropriate that allow the student to access the material
transition assessments related to training, edu- at his or her appropriate instructional level or
cation, employment, and, where appropriate, mode of communication. Academic material
independent living skills; may be approximated for students with moder-
• Development of a statement of the transition ate to severe impairments (Browder, Wakeman,
services (including courses of study) needed to Flowers, Rickelman & Pugalee 2007; Cooper-
assist the child in reaching those goals. Duffy, Szedia & Hyer, 2010). In the NCLB leg-
Carter et al. (2009) recommend that as islation, special education teachers who teach
“postsecondary goals are deeply entrenched content, rather than support content taught
in values and beliefs about family, commu- by general education teachers, are required to
nity, adulthood and disability,” transition IEPs be “highly qualified” in that content area (see
should be culturally responsive. A transition section addressing No Child Left Behind).
IEP will map out “instruction, related services, Functional skills include academic skills, social/
community experiences, the development of communicative skills, recreation and leisure
employment and other post-school adult living skills, personal care skills, vocational skills, and/
objectives, and, when appropriate, acquisition or participation in the community. An example
of daily living skills and functional vocational of a functional skill that approximates an aca-
evaluation” (§ 602[30][C]). demic skill is following a picture recipe instead
of a written recipe in cooking class (Collins,
Karl, Rigga, Galloway, & Hagar, 2010).
SERVICES PROVIDED BY
SPECIAL EDUCATION TEACHERS
Special education teachers provide individu- THE ROLE OF THE
alized instruction, supplementary aids, and SPECIAL EDUCATION
support designed to meet the needs of stu- TEACHER IN THE GENERAL
dents with disabilities. The special education EDUCATION CURRICULUM
teacher’s mission is to instruct and support the
student so he or she is able to access the cur- Although in the past the special educator’s role
riculum, benefit from educational instruction, in general education was to support inclusion
and be prepared for life after school. Students (students who qualify for special education
with disabilities receive the majority of services services during instruction in the general edu-
they need from special education teachers, with cation classroom), that role is changing. As spe-
the remainder of services provided by related cial education and general education services
become more integrated (see section Response differentiated in the following areas (Council
to Intervention), the role of the special educa- for Exceptional Children, 2011):
tor becomes more complex. The responsive • Content (altering complexity or presenta-
special educator will fill the following roles as tion)
described by Hoover and Patton (2008):
• Process (altering the amount of support
1. Data-driven decision maker as necessary; e.g., determining whether
2. Implementer of evidence-based interven- teacher or peer support is most appropriate)
tions • Products (individual versus group projects,
3. Differentiator of instruction including varying methods of demonstrat-
4. Implementer of socioemotional and behav- ing mastery and using different scoring
ioral supports methods)
5. Collaborator • Learning environment (the physical struc-
ture of the room; established learning rou-
The special educator should also be prepared
tines and culturally inclusive materials)
to supervise paraprofessionals and function as a
co-teacher in the general education setting.
The Special Education
The Special Education Teacher Teacher as Implementer and
as Data-based Decision Maker Facilitator of Socioemotional
Special educators serve as members of problem- and Behavior Supports
solving teams for at-risk students and students Special educators provide socioemotional and
with disabilities. The team interprets teacher- behavior supports to students through social
generated data to evaluate the amount of prog- skills instruction and many other positive
ress students are making. The team uses the data behavioral supports and interventions. Social
to make decisions about the need for instruc- skills instruction can be taught discretely with
tional changes (Kovaleski & Pedersen, 2008). programs that break down social skills into steps
and engage the students in role play. Most pro-
The Special Education grams also have a homework component (the
Teacher as Implementer of students practice the skill independently) and a
Evidence-Based Interventions self-monitoring component. Examples of such
programs include Skill Streaming (McGinnis
Evidence-based interventions are teaching & Goldstein, 1997) and The Tough Kids Social
methods that scientific studies have indicated Skills Book (Sheridan, 1995). Social skills can
are the most effective. Their use is imperative be taught during literacy lessons by incorporat-
when working with students with disabilities. ing books containing social conflicts or the use
Students are identified with educational disabil- of prosocial strategies (Marchant & Womack,
ities because they have not learned effectively 2010). In addition to supporting their own stu-
when taught with typical instructional methods dents, special educators often serve on “School-
(Cook, Tankersley, & Landrum, 2009). Com- Wide Positive Behavior Support teams,” which
mercial evidence-based interventions can be provide and monitor schoolwide programs
found on the “What Works Clearinghouse” intended to decrease interfering and bullying
web site of the U.S. Department of Education. behaviors (Simonsen, Sugai, & Negron, 2008).
Information about noncommercial evidence-
based practices can be found in educational The Special Education
research journals. As an example, publications Teacher as Collaborator
of the Council for Exceptional Children (a
professional organization for special education As a collaborator, the special education teacher
professionals) are valuable resources for finding must familiarize the general education teacher
evidence-based interventions. with the adaptations and modifications necessary
to enable the child to benefit from inclusion. The
The Special Education Teacher two teachers then discuss who will be responsi-
ble for each aspect of the student’s instructional
as Differentiator of Instruction needs. For a student who needs only limited sup-
Differentiated instruction means that the port, the special education teacher might provide
teacher structures instruction to best fit the content enhancements such as the use of graphic
needs of each student. Instruction can be organizers, study guides, or visual displays
572 Clair
(Jitendra, Burgess, & Gajria, 2011). The special 94-142), addresses IDEA in three areas: highly
educator may create adapted tests or check on qualified teachers, high quality instruction,
the student at the end of the day to confirm that inclusion in state assessment for all children,
all of the homework assignments have been writ- and high-stakes testing.
ten down. For a student who needs more exten-
sive support, the special education teacher may Highly Qualified Teachers
supply modified assignments that cover the same “Highly qualified teachers” by NCLB regula-
content as the general education lesson but that tions are teachers who hold a bachelor’s degree,
are at the student’s functional level (see section have full state certification, and can prove
Accommodations and Modifications; Hoover & knowledge in the subject they teach. NCLB
Patton, 2008). requires the special education teachers who
provide direct instruction in core academic
The Special Education Teacher subjects to be highly qualified (see Table 31.3).
as Supervisor of Paraprofessionals New special education teachers generally prove
As a supervisor, the special education teacher their knowledge by taking college courses in
maintains the level of service delivered to stu- the subjects they teach. Veteran teachers can
dents by paraprofessionals. Teachers need to prove that they are highly qualified by alternate
actively manage paraprofessional support by cre- methods, including a record of teaching expe-
ating a job description so that expectations are rience or attending professional development
clear. Paraprofessionals help provide services but (U.S. Department of Education, 2004, 2006,
should not engage in instruction, assessment, and 2007).
long-term planning, collaborating and consult-
ing with general educators, or supervising other High-Quality Instruction
paraprofessionals. These tasks are the job of the One of the most significant changes to edu-
special education teacher. The special educa- cation under NCLB is the requirement that
tion teacher can best maintain quality parapro- instruction must be of “high quality,” mean-
fessional support by conducting frequent, brief ing proven with evidence-based research. Evi-
observations with both verbal and written feed- dence-based research is defined as “research
back of performance (French, 2011). that involves the application of rigorous, sys-
tematic, and objective procedures to obtain
The Special Education reliable and valid knowledge relevant to educa-
Teacher as Coteacher tion activities and programs” (U.S. Department
As a coteacher, the special education teacher of Education, 2007). The field of education is
shares the classroom with a general education known for swinging from one end of the spec-
teacher. The two teachers take joint responsi- trum or the other when deciding policy and
bility for all of the students in the class, regard- curriculum, (one noticeable example has been
less of ability. Coteaching may take many forms. the debate between phonics instruction or
Although not the most effective form, the most whole language instruction that has has con-
prevalent is the “one teach, one assist” model: tinued from the early 1980s, with an eventual
While one teacher teaches the entire class, the recognition that both are necessary for read-
other helps any students in need. Other methods ing progress.) Many such debates are based on
include 1) setting up stations, and 2) parallel or beliefs about instruction rather than objective
alternative teaching (in which students are sepa- scientific processes. Additionally, many teachers
rated into small groups based on need but not (both special education and general education)
disability). In the ideal situation, teachers team- engage in a personalized curriculum, combin-
teach and both teachers share responsibilities ing material from many different commercial
and teaching duties equally (Scruggs, Mastrop- (not validated) teachers’ guides. Under NCLB,
ieri, & McDuffie, 2007). idiosyncratic curricula are no longer acceptable.
High Stakes Testing

GENERAL EDUCATION
LEGISLATION AFFECTING High stakes testing is one of the most contro-
versial tenets of NCLB. Under NCLB, all stu-
SPECIAL EDUCATION TEACHERS dents, in all schools, in all districts must take
The No Child Left Behind Act of 2001, which standardized assessments to determine whether
is a reauthorization of the Elementary and they are functioning on grade level in the areas
Secondary Education Act (ESEA) of 1965 (PL of reading/language arts, math, and science,
Table 31.3. Summary of requirements to be a highly qualified special education teacher per the Individuals
with Disabilities Education Improvement Act of 2004 (PL 108-446)
Category of special education teachers Requirements
All special education teachers—general requirements At least a bachelor of arts degree
Full state special education certification or equivalent
licensure
No emergency or temporary certificate
New or veteran elementary school teachers teaching In addition to the general requirements listed above,
one or more core academic subjects only to chil- may demonstrate academic subject competence
dren with disabilities held to alternative academic through a High, Objective, Uniform State Standard
standards (most severe cognitive disabilities) of Evaluation (HOUSSE) process
New or veteran middle or high school teachers In addition to the general requirements, may dem-
teaching one or more core academic subjects only onstrate “subject matter knowledge appropriate
to children with disabilities held to alternative aca- to the level of instruction being provided, as deter-
demic standards (most severe cognitive disabilities) mined by the State, needed to effectively teach to
those standards”
New teachers of two or more academic subjects who In addition to the general requirements, has 2-year
are highly qualified in math, language arts, or sci- window in which to become highly qualified in
ence the other core academic subjects and may do this
through the HOUSSE process
Veteran teachers who teach two or more core aca- In addition to the general requirements, may demon-
demic subjects only to children with disabilities strate academic subject competence through the
HOUSSE process (including a single evaluation for
all core academic subjects)
Consultative teachers and other special education Only meet general requirements
teachers who do not teach core academic subjects
Other special education teachers teaching core aca- In addition to the general requirements, meet
demic subjects relevant requirements for new elementary school
teachers, new middle or high school teachers, or
veteran teachers
regardless of disability. NCLB requires states school perform well on the high stakes test but
to hold schools responsible for the progress of the students with disabilities do not, that school
all students. Students are ranked at four lev- is labeled a failing school.
els: below basic, basic, proficient, or advanced.
Schools and districts are graded by the perfor- High Stakes Testing of
mance of their students. Schools and districts Students with Disabilities
with significant populations of students per- Students with disabilities are required to par-
forming at below basic or basic are labeled as ticipate in high stakes testing because the goal
“failing schools” or “failing districts.” of NCLB is for all students to perform on grade
Failing institutions are forced to pay level. No more than 1% of students per grade
tuition for their students who wish to go to level (those with significant cognitive disabili-
other schools or districts. If these schools or ties) are assessed using alternative assessment.
districts continue to fail, corrective action will For example, in Missouri, alternative assess-
take place: after 4 years, they may have their ments may be used for students who “[have]
staff replaced; after 5 years, districts may have limited reading, writing and or speaking, and
their elected boards disbanded and be taken whose primary educational priorities primarily
over by the state or a contracted private firm. address essential skills that will be used in adult
Schools or districts with a continued history of daily living” (Missouri Department of Elemen-
failure can be eliminated, with their students tary and Secondary Education, 2010, p.10).
sent to other schools or districts (Peterson, Information regarding alternative assessment
2005). Determination of school performance for other states is available from the National
depends on groups of individuals within the Center on Educational Outcomes.
school, for example children with disabilities Students with significant cognitive disabili-
or English language learners. Each group of ties are required to demonstrate their compe-
students must perform well on the tests. If the tency in the general standards that are assessed
majority of the general education students in a by the state but on their own functional level.
574 Clair
The following example from Kohl, McLaughlin, of $12,474 per year was spent per student with
and Nagle (2006; p. 114) illustrates this process: a disability as compared with $8,080 spent
• Reading standard (Level A): Student responds per general education student. (Diskey, 2002).
to a variety of texts. With this level of expenditure, it is important
• Benchmark (Level B): Student understands the to evaluate outcomes. As one marker of suc-
significance of literature and its contributions cess, 56% percent of students receiving special
to human understanding and culture. education services graduated with a standard
• Indicator (Level C): Student understands diploma from high school (Realize the Dream,
diversity. 2007). This rate is far from ideal, but it com-
• Extended indicator: Student waves to a fellow pares relatively favorably with the nationwide
student but shakes hands with a principal. average that shows 69% of general education
students graduating (Editorial Projects in Edu-
The majority of states make their pro-
cation, 2009).
ficiency decisions using a rubric to measure a
Although graduation rates are an impor-
portfolio of student work on teacher-designed
tant indicator of positive educational outcomes,
activities. The portfolio represents student
the outcome for many students with disabilities
achievement over an extended period of time.
is more adequately represented through other
(Kettler, Beddow, Compton & McGrath, 2010)
means. The NLTS-2 (National Center on Sec-
ondary Education and Transition, 2009) sur-
THE SCHOOL–PARENT veyed outcomes of young adults with disabilities
CONNECTION in many areas. As an example, 83% liked their
job very much or fairly well. Unfortunately the
One of the keys to positive results for students unemployment rate for persons with disabilities
with disabilities is the teamwork between the is 14.5% compared to 8.4% for that of persons
school and family. Educators only see one without disabilities (Department of Labor, 2011).
facet of a child’s abilities: his or her perfor- One of the goals of education is to provide stu-
mance at school; parents, conversely, see the dents with the tools they need to succeed in life;
whole child. For example, a parent might individuals who have benefited from their edu-
know of a special interest or enjoyable activ- cation should feel positively about their future.
ity that the educator might provide as a moti- Table 31.4 represents the percent of students
vator for the child’s school performance. who feel hopeful about the future, broken down
Goals and placements also need to be decided by disability. The results are positive, with over
jointly by the parents and the special educa- half of students with a wide range of disabilities
tion team. It is encouraging to note that par- indicating that they are hopeful about the future
ent attendance at IEP meetings is strong. A a lot or all of the time.
federal longitudinal study (Special Education
Elementary Longitudinal Study, [SEELS])
found that 90% of parents of students with
SUMMARY
disabilities attended their child’s IEP meeting Special education and related services refer to
(SRI International, 2007). instruction and supplementary supports that
The close partnership between special are specifically designed to meet the unique
educators and parents has another direct ben- educational needs of a student with a disabil-
efit: The parents understand and appreci- ity. These services are mandated by federal law
ate the efforts being made for their children. and are provided by special education teachers
The SEELS study found that 91% of parents and related service providers to students with
believed that IEP goals were challenging and defined disabilities. The scope of instruction
appropriate (SRI International, 2007). Addi- and support for a student with a disability is
tionally, The National Longitudinal Study 2 documented in that student’s IEP. Services are
(NLTS2) Wave 4 (2007) reported that 90% of provided within the framework of LRE, which
secondary school parents were satisfied with supports general education as the starting point
their child’s special education experience. when determining the setting most appropriate
for the education of the individual student.
IDEA 2004 is federal legislation that
OUTCOMES
describes diagnosis and provision of services
In 2010, more than $190 billion was spent for students with disabilities. Section 504 leg-
on the education of students with disabilities islation provides coverage for the wider array
(CEC, 2010). As of the last census, an average of students with disabilities who do not qualify
Table 31.4. How often youth felt hopeful about the future (Item np2V2d): Overall and by primary disability category
Learning Speech Mental Emotional Hearing Visual Orthopedic Other health Traumatic Multiple dis- Deaf/blind-
Total disability impairment retardation disturbance impairment impairment impairment impairment Autism brain injury abilities ness
(1) Rarely or 14.7% 13.7% 14.5% 22.5% 15.0% 7.2% 4.3% 8.4% 9.6% 17.1% 16.8% 20.5% 7.5%
never
(2) Some- 22.7% 19.5% 30.4% 23.5% 31.1% 23.7% 16.5% 24.3% 25.7% 26.1% 17.7% 16.8% 18.4%
times
(3) A lot of 19.3% 20.8% 19.8% 16.0% 15.4% 28.0% 29.7% 15.0% 14.9% 22.7% 24.6% 14.4% 30.1%
the time
(4) Most or 43.3% 42.1% 41.1% 31.1% 38.6% 41.2% 49.6% 52.3% 49.8% 33.5% 41.0% 48.0% 44.0%
all of the
time
From National Center on Secondary Education and Transition, Institute on Community Integration. (2009). NLTS2 Wave 5 Parent/Youth Survey Youth Report of Youth Social Involvement Table 340
Estimates. Retrieved November 28, 2010, from http://www.nlts2.org/data_tables/tables/14/np5V2dfrm.html
575
576 Clair
under the stricter guidelines of IDEA. NCLB Recent decline threatens progress. Broader Hori-
has changed the qualifications for special edu- zons, 28. Retrieved November 28, 2010, from www.
edweek.org/ew/toc/2009/06/11/index.html.
cation teachers, required the use of research- Education for All Handicapped Children Act of 1975,
based instruction, and caused students with PL 94-142, 20 U.S.C. §§ 1400 et seq.
disabilities to be included in high stakes testing. Education of the Handicapped Act Amendments of
RTI is a recent innovation in serving struggling 1986, PL 99-457, 20 U.S.C. §§ 1400 et seq.
Education of the Handicapped Act of 1970 (EHA), PL
learners and defining SLD.
91-230, 84 Stat. 121-154, 20 U.S.C. §§ 1400 et seq.
Since the advent of special education, most Elementary and Secondary Education Act of 1965, PL
students with disabilities are hopeful about the 89-10, 20 U.S.C. §§ 241 et seq.
future. Federal Register. (2008). Title 34 Education: Subtitle
B Regulations of the Offices of the Department of
Education Chapter I—office for civil rights, depart-
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32 Behavioral Principles,
Assessment, and Therapy
Michael F. Cataldo, SungWoo Kahng, Iser G. DeLeon,
Brian K. Martens, Patrick C. Friman, and Marilyn Cataldo
Upon completion of this chapter, the reader will understand

■ The role of operant learning approaches in helping individuals with develop-
mental disabilities
■ Operant principles and their application to important everyday problems
■ Operant learning approaches for decreasing problematic behaviors and
increasing adaptive behaviors
■ Intensive treatment approaches for severe behavior problems
■ Principles underlying effective teaching and skill instruction
■ Practical approaches for parents and teachers to address mild behavior prob-
lems and access programs
OPERANT LEARNING operant learning principles to change behavior,

PRINCIPLES AND PRACTICES both excesses and deficits.
Experts on the use of operant learning
Many of the earliest studies of behavioral prin- approaches generally have degrees in psychol-
ciples involved groups of people with develop- ogy or education, and there are several terms
mental disabilities. Initially, this was because for their approaches, methods, procedures, and
people with intellectual disabilities, in general, techniques. These terms include applied behav-
learn more slowly, thus making it easier to study ior analysis (ABA), behavior analysis, behavior
the learning process. This had two important modification, and positive behavior interven-
sequelae: 1) it led to studies of clinical prob- tion and supports (PIBS). The differences in
lems, and 2) it provided the necessary evidence terms mainly reflect changes that have occurred
for landmark court cases on the rights of those during the development of this field of research
with intellectual disabilities (Levy & Ruben- and practice, both with regard to preferred
stein, 1996). In the late 1960s, the branch of terminology and to emphasis on specific tech-
psychology dedicated to studying operant niques. For example, most recently, an empha-
learning began to emphasize applications (Baer, sis has been placed on using only “positive”
Wolf, & Risley, 1968). Since then, hundreds approaches to help people with developmental
of studies have reported the clinical utility of disabilities. This emphasis has validity because it
579
580 Cataldo et al.
lessens the likelihood of abuse resulting from the task when encountering it again. Negative rein-
inappropriate use of operant approaches. Also, forcement exists when the contingent removal
positive approaches alone are sufficient for the of a stimulus increases the likelihood of the
vast majority of people needing help. behavior. For example, a teacher may provide
In all instances, regardless of the term a break from work (i.e., removal of a stimulus)
used, the approaches respond to behavioral after the student has completed a certain portion
challenges (behavioral excesses and deficits) of the task. This would lead to an increased likeli-
that adversely affect the lives of people with hood that the student would complete the task
developmental disabilities. Excesses range from when presented again. It is important to note
common problems such as bedtime difficul- that reinforcement always leads to an increase
ties to rarer but more dramatic disorders such in behavior and that the terms “positive” and
as self-injurious behavior (SIB) or aggres- “negative” simply refer to the action taken (i.e.,
sion. Behavioral deficits include poor academic a stimulus is presented or removed). Both can be
performance, inadequate social skills, deficient used to describe the acquisition of new behav-
communication skills, and inability to indepen- iors as well as the maintenance or reduction of
dently complete activities of daily living. These problem behaviors. Extinction is the process
behavioral excesses and deficits are often inter- through which reinforcement is withheld for a
related (e.g., children who engage in SIB and previously reinforced response, resulting in a
other severe forms of problem behavior often decrease in that response’s future occurrence.
display skill deficits of various sorts; Baghdadli For example, a child in a toy store may have a
et al., 2003; Chadwick et al., 2000; Matson & tantrum if denied a toy, which in the past that
Rivet, 2008; Murphy, Healer, & Leader, 2009). child may have received. If the parent does not
Current operant learning-based practices are attend to the tantrum, tantrums should eventu-
grounded in a rich tradition of learning theory. ally decrease.
Although biologic/genetic factors must be taken Punishment is technically defined as a pro-
into account, the assumption is that typically, cess in which consequences delivered contingent
both appropriate and inappropriate behaviors upon a behavior result in decreasing the future
are learned over time through their effects on occurrence of that behavior. Thus, its effect is
the environment. Stated differently, patients opposite that of reinforcement. Punishment,
change behavior based on whether it results too, can involve separate classes (Figure 32.1).
in valuable outcomes or in escaping or avoid- Positive punishment involves the contingent
ing unpleasant ones. This simple yet powerful delivery of a consequence (sometimes termed
functional relationship between behavior and an aversive stimulus), whereas negative pun-
its consequences, sometimes characterized as ishment involves the contingent removal of
the “Law of Effect,” forms the basis for current a consequence (i.e., positive reinforcer). An
operant learning approaches. Because behavior example of positive punishment is overcorrec-
operates on the environment and results in dif- tion when a child throws a toy. The teacher may
ferential consequences which in turn “select” order the child to pick up the toy as well as clean
future behaviors, it is termed operant behavior. up the surrounding environment. This would
decrease the likelihood of the child throw-
Reinforcement, ing the toy in the future. Common examples
Extinction, and Punishment of negative punishment include time-out (the
individual is removed from potential sources of
Reinforcement is fundamental to all behavior
programs. Strictly defined, it is a process in which
the consequences that follow a given behavior
result in an increase in that behavior’s future EFFECT
strength. Reinforcement can be formally divided Increases Decreases
into two subclasses: positive and negative (Fig- likelihood likelihood
ure 32.1). Positive reinforcement exists when of behavior of behavior
the contingent delivery of an outcome increases Stimulus Positive Positive
the likelihood of the behavior(s) upon which it is
ACTION
presented reinforcement punishment

contingent. For example, a student may receive
Stimulus Negative Negative
a token, which can later be exchanged for a pre- removed reinforcement punishment
ferred item each time he or she correctly com-
pletes a task. This in turn would increase the Figure 32.1. Distinction between positive and negative
likelihood that the student would complete the reinforcement and punishment.
Behavioral Principles, Assessment, and Therapy 581
reinforcement) and response cost (previously attention a stronger reinforcer and increase
earned reinforcers, such as tokens that can be the frequency of behavior that has historically
redeemed for a reward, are removed contin- produced attention (McComas, Thompson, &
gent on inappropriate behavior). Punishment Johnson, 2003; O’Reilly et al., 2006). Regard-
is always defined by its effect on behavior and ing human clinical problems (especially with
always decreases behavior. Punitive therapeutic people with developmental disabilities), exami-
arrangements have become less common over nation of MOs has become increasingly preva-
the years owing to a variety of factors, including lent in research and intervention programs. For
diminished social acceptability and the increase example, the presence or absence of recurrent
in research on the efficacy of reinforcement- medical conditions (Carr & Owen-DeSchryver,
based interventions (Kahng, Iwata, & Lewin, 2007), medications (Crosland et al., 2003), and
2002a; Pelios et al., 1999). Furthermore, the general states of alertness (O’Reilly & Lancioni,
term punishment relates a basic learning prin- 2000) have all been shown to alter the effective-
ciple to legal and negative associations. Yet, the ness of certain consequences as reinforcers and,
facts are that regardless of the term employed, thus, alter the frequency of problem behaviors
most learning cannot occur without feedback maintained by those reinforcers.
about incorrect responses. And, when feedback
on incorrect responses occurs and enhances
learning, it meets the technical definition of
BEHAVIORAL ASSESSMENT
punishment. From a technical, operant learn- OF PROBLEM BEHAVIORS
ing perspective, grades in school can serve as Since the early 1990s, the dominant approach
reinforcement or as punishment. to intervening with severe problem behaviors
It is important to note that punishing and initially involves performing evaluations collec-
reinforcing stimuli are not characterized by their tively referred to as functional assessment. Its basic
outward appearance but by their effects on the goal is to identify the antecedent events and con-
behaviors upon which they are made contin- sequences that serve as motivational variables
gent. The success of many behavior programs for a problem behavior. There are three types
hinges upon the parent’s, caregiver’s, or teacher’s of functional assessment: indirect assessment,
ability to arrange or rearrange the relationship descriptive analysis, and functional (experi-
between behavior and its consequences. How- mental) analysis (Iwata et al., 2000).
ever, knowing which stimuli can be effective as Indirect assessment is the simplest method
consequences to increase or decrease behavior is of gathering information about behavioral func-
not always intuitively obvious. For example, nor- tion. Indirect assessments consist of question-
mally punitive consequences, such as verbal rep- naires and rating scales (Matson & Wilkins,
rimands (Kodak, Northup, & Kelley, 2007) and 2009) that are completed by caregivers (e.g.,
physical restraint (Magee & Ellis, 2001) under parents, teachers, school staff, child care staff).
certain circumstances actually function as rein- The caregivers are asked a series of questions
forcers for some individuals. Thus, an important about the problem behavior and related events
part of successful behavior management is the (i.e., antecedent events and consequences). Typi-
process of identifying stimuli that are effective cally, a score is derived from this assessment that
consequences for each individual. may be suggestive of behavioral function. Indi-
rect assessments quickly and efficiently gather
Motivation preliminary information about the problem
Both behavior and response–consequence inter- behaviors. However, it is not generally recom-
actions are dynamic. Motivation is an important mended that these assessments be the sole source
concept in understanding how the effectiveness of information about behavior because of their
of consequences varies across time. Motivat- questionable reliability and validity.
ing operations (MOs) play a central role in Descriptive analyses involve the quan-
the operant learning conceptualization of moti- titative, direct observation of the individual’s
vation (Laraway, Snycerski, Michael, & Pol- behaviors as well as antecedent events and con-
ing, 2003). An MO produces two effects: 1) a sequences under naturalistic settings (Camp,
change in the value of a consequence, and 2) a Iwata, Hammond, & Bloom, 2009; Samaha
corresponding change in the strength (e.g., et al., 2009). Conditional probability of the
frequency, amount) of behavior historically behavior’s occurrence and the antecedents/con-
influenced by that consequence. For example, sequences can then be determined, a process
being lengthily deprived of attention can make that can help identify a relationship between
582 Cataldo et al.
the problem behavior and environmental identification of a behavioral function helps

events that preceded it. Descriptive analyses eliminate unnecessary or irrelevant compo-
are objective means of gathering more informa- nents of a treatment plan.
tion about variables that may be maintaining The adoption of functional assessments
a problem behavior. They permit determina- has changed how behavioral interventions are
tion of the degree of correspondence between developed (Mace, 1994). Prior to the advent
a behavior and environmental event. However, of functional assessment, providers/clinicians
descriptive analyses tend to be time consuming, attempted to change problem behaviors with-
and because they are correlational, they may out consideration of the likely cause. In most
not identify the variables that are maintaining cases, this resulted in a standard selection of
the problem behavior. treatment components. Functional assess-
The most powerful demonstration of the ment technology has led to hypothesis-based
relationship between antecedent and conse- (i.e., function-based) treatment development,
quent events on problem behaviors consists of which has resulted in increased numbers of
the controlled manipulation of these events, evidence-based treatment options and indi-
typically called a functional analysis (Iwata et al., vidualized treatments. When behavioral
1982, 1994). In this approach, the individual is treatment fails to produce a positive outcome,
exposed to a variety of antecedent conditions and functional assessment has provided informa-
consequences that may have evoked problem tion on factors responsible for the failure.
behaviors. The antecedent variables may include Once the likely maintaining contingencies
presenting demands as well as limited access to for a problem behavior have been identified,
adult attention or preferred items. Consequences a hypothesis-driven approach to treatment
for problem behaviors may include a brief escape development is possible. Some examples are
from the demand, attention, or access to pre- described next.
ferred items. Patterns of differential responding
are observed over time through repeated expo- Social-Positive Reinforcement
sure to each of these conditions. Responses that The most basic intervention for problem behav-
occur more often in a particular condition (e.g., iors that are maintained by social-positive rein-
when demands are presented) leads the clini- forcement is terminating the reinforcer, such
cian to conclude that the problem behavior is as attention or access to tangibles (e.g., toys,
maintained by that particular consequence (e.g., TV, food). This extinction approach typically
escape from demands). involves ignoring the problem behavior (Hago-
pian, Toole, Long, Bowman, & Lieving, 2004).
FUNCTIONAL ASSESSMENT However, extinction is sometimes associated
with the problem behavior initially increasing,
AND TREATMENT DEVELOPMENT
followed by a gradual decrease and increases
Interest in functional assessments as a treat- in other nontargeted behaviors (Lerman &
ment development tool has increased since the Iwata, 1996). In most instances, extinction is
early 1980s (Iwata et al., 1982, 1994; Kahng, combined with differential reinforcement pro-
Iwata, & Lewin, 2002b). This interest and a cedures, such as differential reinforcement of
corresponding body of research has resulted other behaviors (DRO) or differential rein-
in government-enacted mandates in the Indi- forcement of alternative behaviors (DRA).
viduals with Disabilities Education Act Amend- DRO consists of the delivery of reinforcers
ments of 1997 (IDEA ’97; PL 105-17) and the (e.g., attention) contingent on the absence of
law’s 2004 reauthorization (IDEA 2004; PL problem behaviors. Reinforcers are typically
108-446) and is specifically addressed in the No provided after prespecified intervals of time in
Child Left Behind (NCLB) Act of 2001 (PL which the problem behavior has not occurred
107-110). Using a functional assessment, the (Conyers et al., 2004). DRA is the delivery of
antecedent conditions that influence a problem the reinforcer contingent on the performance
behavior can be identified and changed in order of alternative, more appropriate behaviors.
to reduce the likelihood of the problem behav- Oftentimes this alternative response takes the
ior recurring. Once identified, the source of form of appropriate communicative responses,
reinforcement for the problem behavior can be such as requesting attention or access to the
minimized or eliminated. Then, the reinforcer tangible item. An example is the use of func-
that maintains the behavior can be used in the tional communication training (FCT; Jarmolo-
behavioral intervention to reduce it. Finally, wicz, DeLeon, & Kuhn, 2009).
Social-Negative Reinforcement competing stimuli and consist of presenting

Procedurally, extinction of problem behaviors stimuli that displace the problem behavior, such
maintained by social-negative reinforcement is as providing food or mouthing toys to children
different from extinction of problem behaviors that display pica (DeLeon, Toole, Gutshall,
maintained by social-positive reinforcement. & Bowman, 2005). Finally, some studies have
Whereas the latter involves not giving attention attempted to replace the hypothesized source
(i.e., ignoring) to the problem behaviors, extinc- of sensory stimulation that is produced by the
tion of escape-maintained problem behaviors behavior. Although determining such sources is
involves preventing escape. The aversive event difficult, researchers have provided alternative
(e.g., demand) is continued and NOT terminated sources of stimulation based on the appearance
(Kodak, Lerman, Volkert, & Trosclair, 2007). of the behavior. For example, studies have pro-
Hypothesis-based differential reinforcement vided alternative sources of visual stimulation
procedures have also been effective in reducing for individuals who demonstrate eye poking
escape-maintained problem behaviors. As with behavior (Kennedy & Souza, 1995).
attention-maintained problem behaviors, DRO
consists of the delivery of a brief period of escape PREFERENCE ASSESSMENT AND
that is contingent on absenting the problem REINFORCER EVALUATION: FROM
behavior (Kodak, Miltenberger, & Romaniuk,
2003). DRA typically consists of delivering brief
BASIC PRINCIPLE TO APPLICATION
escape contingent on the performance of alter- During the early eras of applying behavioral
native behaviors, such as appropriate communi- principles to improving the lives of individuals
cation or compliance (Reed, Ringdahl, Wacker, with developmental disabilities, little attention
Barretto, & Andelman, 2005). was paid to empirically identifying reinforcers
to strengthen behavior. In many cases, stimuli
Automatic Reinforcement were arbitrarily selected and may not have
In some instances, behavior produces inter- functioned as reinforcers for specific behaviors.
nal consequences that can reinforce and thus This, in turn, may have resulted in ineffective
produce functional relationships that maintain interventions.
problem behaviors. This has been termed auto- Since the early 1980s, there has been a
matic reinforcement. For example, studies have growing body of research that examines meth-
linked some forms of self-injury to releases of ods of systematically identifying stimuli that may
endogenous opiates that may relieve pain or serve as reinforcers (Hagopian, Long, & Rush,
provide pleasure. Thus, SIB in this instance 2004). In one of the first such studies, Pace, Ivan-
can be viewed as a form of self-reinforcement. cic, Edwards, Iwata, and Page (1985) examined
Rates of such automatically reinforced behav- preference by exposing individuals with devel-
ior have been found to decrease dramatically opmental disabilities to 16 stimuli to measure
via the administration of an opiate antagonist whether or not that individual responded to that
(Cataldo & Harris, 1982). Although it is diffi- stimulus. They identified multiple stimuli, which
cult to identify the specific source of stimula- they later demonstrated as being reinforcers.
tion for problem behaviors that are maintained These preference assessments typically expose
by automatic reinforcement, the fact that the individual to a large number of stimuli over a
responding occurs regardless of social stimula- relatively brief period of time. The goal of such
tion provides useful information for treatment assessments is to identify high-preference stimuli
development. Extinction of problem behaviors that may be potential reinforcers. More recently,
that are maintained by automatic reinforcement research on preference and reinforcer identifica-
requires the attenuation or elimination of the tion has led to research that focuses more broadly
source of reinforcement. For SIB, this typically on choice and its impact on behavior (Fisher &
involves using protective equipment such as Mazur, 1997).
mitts or helmets that permit the occurrence of
the behavior but minimize the amount of rein- COMMON BEHAVIOR PROBLEMS
forcement produced (Moore, Fisher, & Pen-
nington, 2004). Research has clearly demonstrated that from
Another type of treatment focuses on these basic operant learning principles, a broad
providing stimuli that compete with problem variety of applications for treatment of rou-
behaviors. These procedures are sometimes tine child behavior problems can be derived, a
referred to as enriched environments or sample of which will be discussed next (Friman,
584 Cataldo et al.
2005a; 2008). These applications are extremely Toileting

effective for mild behavior problems, which
Toileting accidents are common in young
if addressed early can avoid more serious and
children and continue to be present in many
treatment resistant forms of behavior problems.
typically developing children through age 6
(especially boys). When achievement of develop-
Routine Oppositional Behavior mental milestones is slowed by a developmental
Optimal treatment of routine oppositional behav- disability, the probability of toileting problems
ior usually includes at least five components: increases substantially and extends well past
1. Establishing the clarity and simplicity of age 6. Effective treatment of toileting problems
the instructions or requests that are to be usually includes at least four components.
followed in the program. 1. Detection of accidents by the child and caregiver
2. Dramatically increasing pleasant social must be heightened. Market forces in the
and physical contact between the child and United States are actually working against
caregiver; this is sometimes called time-in. this first component through the use of
The more pleasant the circumstances at diapers and pull-ups in increasingly older
the time of oppositional behavior, the less children. Both garments inhibit detection
intensive or intrusive an intervention has to of accidents. The polymer structure of the
be in order to produce a behavior changing garments prevents urine from dampening
aversive experience. Mere cessation of or clothing, thus interfering with visual detec-
removal from the pleasant circumstances is tion by caregivers. The structure also traps
often highly aversive (an example of nega- urine within the garment itself and main-
tive punishment). tains its temperature at or near body levels;
3. Causing a temporary dramatic decrease in thus this delays the child’s sensory detection
pleasant social and physical contact between of accidents. Not surprisingly, wearing the
child and caregiver, ceasing all preferred garments inhibits developing continence
activity, and confining the child to a speci- (Tarbox, Williams, & Friman, 2004). As
fied location, usually a chair or a bedroom; a result, achieving the first component
this is usually called time-out (the obverse involves removing diapers and pull-ups
of time-in). The key to effectiveness is its when and where possible (Figure 32.2).
contiguity with and contingency upon 2. Learning trials must be increased in frequency.
the targeted oppositional behavior and its This can be accomplished by increasing
release criteria. Generally, release requires fluid loads, usually by providing unlimited
quiet acceptance of the time-out (which amounts of the child’s favorite beverages.
can take a while to achieve, especially in 3. Any movement associated with imminent uri-
the beginning stages) and verbal or gestural nation should be quickly followed by a guided
assent to a query by the caregiver (i.e, ask- trip to the bathroom. In addition, during
ing whether the child would like to leave the training period, guided trips should be
time-out). scheduled at least every 2 hours.
4. Providing an immediate and brief but
4. Attempts to urinate should be praised, and
intensive practice session wherein the child
successes should be rewarded (positive rein-
is instructed to complete several small tasks
forcement). If timing is critical or if the
(e.g., put the pencil on the desk, place the
previously listed components do not yield
paper in the wastebasket) and is praised for
success, a vibrating urine alarm can be
compliance or sent back to time-out for
added (e.g., Wet Stop). Alarms are mois-
noncompliance.
ture-sensitive, and they simultaneously
5. Making an ardent attempt to catch the child increase detection of accidents by child and
complying with commands or following caregiver (there is a detectable sound) and
instructions in his or her everyday life and supply a mildly unpleasant consequence.
to praise (reinforce) the performance. This This sequence teaches the child to engage
is sometimes called incidental teaching. the lower abdominal musculature respon-
Variations on this procedure have been sible for inhibiting or forestalling urination
used successfully with oppositional behavior (i.e., the muscles used to “hold it” when
in more children at more developmental levels urination is inconvenient; Christopersen &
than any other documented treatment. Friman, 2010).
Figure 32.2. Number of toileting accidents per day are depicted in the top panel. Number of success-
ful voids per day are depicted in the bottom panel. (From Tarbox, R., Williams, L., & Friman, P.C. [2004].
Extended diaper wearing: Effects on continence in and out of the diaper. Journal of Applied Behavior
Analysis, 37, 99; reprinted by permission.)
Bedtime Problems with extinction. Fortunately, a method used to

reduce disruptive behavior can be adapted to
Crying, calling, and/or coming out of the bed- improve bedtime problems and increase paren-
room after bedtime are among the most com- tal compliance. This method involves allowing
mon behavior problems for young children, a brief period of time during which children’s
and this is true whether they are typically devel- (appropriate) requests and demands are met,
oping or have a developmental disability. The contingent upon their exhibiting the target
potential for bedtime problems is high because, behaviors (Bowman et al., 1997). The derived
faced with the prospect of being alone in the method involves giving children who appropri-
dark for hours, children often exhibit distress. ately prepare for bed (e.g., brushed teeth, put
Furthermore, any response from caregivers to pajamas on) a “bedtime pass” (usually a lami-
the bedtime problem, pleasant or unpleasant, nated piece of cardboard) that they are allowed
creates a reinforcing experience because chil- to use in exchange for the satisfaction of one
dren prefer human contact to being alone (Fri- (appropriate) request. The children are allowed
man, 2005b). to call out the request or get up and deliver the
Treatment involves a variation on ignor- “pass” to the caregiver. Following satisfaction of
ing distress calls and preventing bedroom exits, the request, the pass is surrendered, the child is
essentially an extinction procedure. The inten- tucked in bed for the night, and all subsequent
sity and duration of the child’s distress, how- distress calls are ignored. The pass has success-
ever, frequently impedes caregiver compliance fully eliminated bedtime problems in children
586 Cataldo et al.
between the ages of 3 and 10 years (Moore, 4. All public exhibitions of the habit result in a
Friman, Fruzetti, & MacAleese, 2007) and brief time-out, but private practice of the habit
both parents and pediatricians rate it as highly is allowed. The logic behind allowing pri-
acceptable. The bedtime pass program’s high vate practice is that unless a child spends an
success with children as young as 3 years of age inordinate amount of time alone, the likeli-
suggests it could be mastered by children with hood that a private habit will cause social or
disabilities whose cognitive abilities approach physical problems is minimal.
the 3-year level. 5. An incentive system is employed to reward the
child when the habit is not exhibited during an
Common Habit Disorders established number of defined intervals.
Habit disorders (“bad habits”) are highly Variations on this form of treatment for com-
prevalent in children, especially in those with mon habits have proven highly successful in
developmental disabilities. The likelihood of a research studies, even when the habit is part of
behavior hardening into a habit increases along a cluster of self-stimulatory behaviors (Friman,
with the size and frequency of intervals between 2003). Other variations have been used to treat
stimulating or nurturing events in the lives of a broad range of behavior problems includ-
children (e.g., contacts with people, absorbing ing fingernail biting and chronic hair pulling
social activities; Friman, Byrd, & Oksal, 2001). (Woods & Miltenberger, 2001).
Thus, habits are more prevalent in industrial- Obviously, the previously mentioned prob-
ized societies than in developing or agrarian lems form a much abbreviated sample of com-
ones because children in nonindustrialized soci- mon behavior problems. But those discussions
eties have abundantly more “skin-to-skin” con- so far represent the kind of problems for which
tact with caregivers in the early periods of their operant learning-based strategies have proven
lives (e.g., they sleep with parents for years, are effective. These techniques are evidence-based
swaddled with a parent throughout the day). and can easily be disseminated to parents
Because of the abundance of highly stimulat- through brief well-child visits.
ing contact and activities throughout the day,
the pleasant but less stimulating experiential SEVERE PROBLEM BEHAVIORS
contrast provided by self-stimulatory habits is
insufficient to result in their developing or con- Problem behaviors such as self-injurious behav-
tinuing. ior (SIB), aggression, and property destruction
Common habits include biting fingernails, cannot be dealt with in the same practical man-
picking skin, grinding teeth, and playing with or ner described in the preceding section. Although
pulling hair; however, the most prevalent habit there is compelling evidence that problem behav-
is probably thumb-sucking and, with minor iors (e.g., SIB) involve neurobiological mecha-
exceptions, successful treatment of it is proto- nisms (Nyhan, 2002), medical approaches, such
typical for most habits. All of these behaviors, as the use of atypical antipsychotic medicines
like other pediatric presenting problems, can be (i.e., risperidone), are only partially successful.
signs of underlying medical or psychiatric prob- Research shows that these problem behaviors
lems. A proper evaluation is a prerequisite for also have a learned component, which influences
behavioral treatment. If warranted, however, a frequency and long-term disability, and can be
behavioral approach would proceed as follows: reduced by applying operant-learning–based
approaches (Hastings & Noone, 2005; Iwata,
1. Aversion of time-in (as previously described) is
Pace, Dorsey, et al., 1994; National Institutes of
used. To the extent possible, the frequency
Health, 1991). For example, studies show that
and length of intervals associated with
SIB is maintained by environmental contingen-
limited external stimulation is reduced by
cies such as negative reinforcement (escape) and
increasing the delivery of pleasant social
positive reinforcement (attention; Carr, Newsom,
and physical contact.
& Binkoff, 1976; Lovaas et al., 1965). Numer-
2. Detection of the habit is increased through ous studies have demonstrated that other prob-
intensive monitoring. lem behaviors such as aggression and property
3. The child’s awareness of the habit is raised destruction can be maintained through similar
through methods that increase its recogni- environmental contingencies (Crockett & Hago-
tion. With thumb-sucking, this is achieved pian, 2006; Fisher, DeLeon, Rodriguez-Catter, &
by applying edible but bitter-tasting sub- Keeney, 2004). Therefore, children with severe
stances to the thumbnail. behavior problems should be referred to properly
trained and credentialed behavior analysts, psy- to pain, and the body’s response to opiate-like
chologists, or educators. substances (Cataldo & Harris, 1982). These
The environmental contingencies that nonsocially mediated contingencies have col-
maintain problem behavior can be catego- lectively become referred to as automatic rein-
rized into three groups that were only briefly forcement (O’Reilly et al., 2010; Vaughan &
mentioned previously: social-positive rein- Michael, 1982).
forcement, social-negative reinforcement, and
automatic reinforcement (Iwata et al., 2000). The Viability of
These are described in more detail next. Extinction and Implications
from Behavioral Economics
Social-Positive Reinforcement
Although extinction is clearly effective in the
Events or stimuli that follow a behavior’s occur-
treatment of problem behaviors, applied behav-
rence may function to strengthen that behav-
ioral researchers have increasingly acknowl-
ior. Oftentimes, these consequences are socially
edged that extinction is not always possible in
mediated (i.e., delivered by other individu-
natural environments (Carter, 2010; Lomas,
als) and take the form of attention or material
Fisher, & Kelley, 2010). For example, it may be
items (e.g., toys, food). For example, a common
difficult or unethical to ignore disruptive and
response by parents when their child engages
dangerous behaviors. And, it may be impos-
in less intensive forms of SIB (or stereotypic
sible to persist in issuing academic demands
behavior) may be to provide a verbal reprimand
when the learner acts aggressively towards
(e.g., saying “Don’t do that”) or physical com-
the instructor or throws tasks materials to the
fort (e.g., hugging the child). Although these
floor. In each case, the behavior may result in
consequences may lead to a temporary decrease
even brief periods of escape and thus be rein-
in the problem behavior, repeated pairing of
forced. Considerable research has been devoted
either consequence with the problem behavior
to how well interventions hold up if problem
may inadvertently result in a future increase in
behavior continues to be reinforced (Vollmer,
both the frequency and intensity of this prob-
Roane, Ringdahl, & Marcus, 1999). A related
lem behavior.
consideration is that alternative behavior can-
not always be reinforced each time it occurs.
Social-Negative Reinforcement
Reinforcers must sometimes be delivered inter-
The removal of some unwanted or aversive mittently (e.g., for every third or fifth appro-
event contingent on a behavior may also result priate response) if the procedure is to remain
in strengthening of that behavior and may man- practical enough for caregivers to implement.
ifest as escape or avoidance from the unwanted Combining these considerations creates a situa-
event. For example, a teacher may present a stu- tion in which both the problem behavior and an
dent with a challenging task (e.g., answering a appropriate alternative are each reinforced only
difficult question), which may result in the child some of the time.
becoming aggressive. This aggressive behavior To address this situation, clinical research
may eventually lead the teacher to terminate has begun to study the variables that spur
the task and provide the student a break so choice-making behavior. Such research inves-
that he or she will calm down. In this situation, tigates choices when two schedules are con-
the escape may temporarily reduce aggression. currently in effect by extending findings from
However, the inadvertent pairing of the escape the field of behavioral economics. Behavior
with the aggression may lead to future increases analysts have increasingly applied economic
in aggression by the student when he or she is concepts to understand issues of social signifi-
presented with similarly challenging tasks. cance in areas including consumer choice, gam-
bling, substance abuse, and more recently, to
Automatic Reinforcement the treatment of problem behaviors. Behavioral
Some forms of SIB occur independent of economics is concerned with how reinforc-
environmental or socially mediated conse- ers are earned when the number of responses
quences (Kern, Bailin, & Mauk, 2003; Long, required to produce them are increased, as in
Hagopian, DeLeon, Marhefka, & Resau, making a reinforcement schedule increasingly
2005). These behaviors are oftentimes said to intermittent (DeLeon, Neidert, Anders, &
be self-stimulatory, and a variety of biologi- Rodriguez-Catter, 2001; Roane, Falcomata, &
cal explanations have been suggested. These Fisher, 2007; Shore, Iwata, DeLeon, Kahng, &
include biochemical deficiencies, insensitivity Smith, 1997).
588 Cataldo et al.
The behavioral “translation” of the eco- Several types of schedules can be used,
nomic law of demand asserts that as the number including picture schedules, word schedules,
of responses required to produce a reinforcer and checklists. Choosing the appropriate
increases, the total number of reinforcers con- schedule and its design should be influenced
sumed declines. How those decreases affect by each student’s cognitive level, adaptive skills,
consumption can differ dramatically from and motor abilities. For example, a student
reinforcer to reinforcer. Although two rein- with minimal reading or word identification
forcers may be consumed equally when each skills may benefit most from a picture schedule
can be earned for a single response, they may (McClannahan & Krantz, 1999), with each pic-
have highly disparate “demand profiles”—one ture corresponding to an activity or step within
may continue to be consumed at relatively high an activity (see Figure 32.3). During a morning
levels while consumption of the other declines routine, a child may be required to remove his
steeply—when the response requirements are or her jacket and bag, place them in a locker,
increased. collect materials for an independent activ-
Laboratory investigations involving indi- ity, and then sit at a desk. Each step would be
viduals with developmental disabilities have depicted by a picture that appears on a board or
shown that these relationships similarly remain folder and is removed as the step is completed.
when considering common classroom reinforc- For example, Miguel, Yang, Finn, and Ahearn
ers (DeLeon, Iwata, Goh, & Worsdell, 1997; (2009) used a match-to-sample procedure with
Tustin, 1994 ). One of the variables that influ- two children with autism to transfer control
ences consumption decline is related to the type
of reinforcer concurrently available. Generally,
consumption of a reinforcer declines more Weekday
steeply when response requirements increase
get ready circle time
or when “substitute” commodities (for exam-
ple, those that provide a similar kind of rein- 7:30 12:00
forcement) can be earned with less effort. The am pm
implication in the treatment context is that if

the problem behavior continues to elicit its
maintaining reinforcer while the reinforcement set up tables lunch
schedule for the alternative behavior is made

increasingly intermittent, interventions rely-
ing on differential reinforcement of alternative breakfast
8:00 12:15
behaviors may remain effective. This is true am pm
if the alternative behavior is reinforced with clean up
something dissimilar to what the person can clean up
gain with less effort by emitting the problem
behavior. Thus, when extinction is difficult to
implement and schedules must be thinned for
session session
practical reasons, reinforcing alternative behav-
ior with a reinforcer that is distinct from that 9:00 1:00
am pm
maintaining the problem behavior may be a
more viable treatment option.
academics academics
PRACTICAL STRATEGIES
10:00 2:30
FOR THE CLASSROOM am pm
Establishing Routines and Schedules

session gross
In order to reduce behavior problems and cre- motor
ate an organized, predictable classroom, it is 11:00 4:00

am pm
key to establish individual student and class-
room schedules. Using schedules in a classroom
provides students with predictability and can
teach them to tolerate waiting and transitions Figure 32.3. Picture schedule using line drawings and their
between activities. corresponding words.
over the completion of activity schedules from Providing Instruction

photographs to printed words contained in a
First and foremost, readiness skills such as
binder. Activities used in this study required
remaining seated, attending to materials, and
students to retrieve items corresponding to the
listening to instructions are extremely impor-
picture/word on each page of the binder (e.g.,
tant. If a child is unable to sit in a chair or make
sorting shapes, completing a puzzle, obtaining
eye contact with an instructor, he or she will
a play set) from an array or from a bookshelf.
be more likely to become distracted or focused
on irrelevant stimuli. A good strategy for
Arranging the Classroom addressing attention problems is to teach stu-
for Maximum Impact dents to ready themselves. Each student can be
The concept of space management and posi- taught a “ready position.” For example, before
tioning of staff and students can powerfully any instruction begins, the students can be
affect behavior, and it is one of the easiest vari- prompted to “get ready to learn,” meaning that
ables to manipulate (see Figure 32.4). First, it they should sit quietly in their chairs with their
may be necessary to assess the level of supervi- feet on the floor and hands on their desk, look-
sion each student requires. Some students may ing at the instructor and listening for instruc-
need to sit close to the teacher or might benefit tions. For children who are very distractible,
from working one to one with a support staff teaching these attending skills one at a time may
person, either periodically or for extended peri- be necessary (e.g., sitting, then keeping feet on
ods. Second, the use of individual carrels, and floor, then keeping hands still, then looking at
appropriately locating them in the room, can the instructor, and so forth) before beginning to
reduce distractibility in students with attention address other educational objectives.
problems. If carrels are located in high-traffic Where and how instructions are given also
areas, it should be determined whether they can greatly influence providing an optimal learning
be relocated to a quieter or less-traveled section environment. For some activities and students,
of the room. In addition, the location of group written instructions on the board may be most
activities and lessons should be considered, and effective in conjunction with verbal instruc-
if possible, moved away from individual work tions, whereas for other activities and students
stations into an area where group work will not recorded instructions may be necessary so that
be distracting to other students. It is critical to students can replay them as needed. Regardless
frequently assess auditory and visual stimula- of the activity, instructions should be deter-
tion during the day and modify as needed for mined by student ability and modified based on
students who are easily distracted. performance progress.
Figure 32.4. Schematic of classroom (A) Carrels to help decrease visual distraction. This design is used for one-to-one instruc-
tion or independent work (B) A computer workstation, separate from the rest of the stations with a divider to minimize distraction
(C) Table for small-group instruction.
590 Cataldo et al.
Just as instructions should be individual- abilities, as some students learn best via model-
ized based on activity and ability, the types of ing whereas others learn best from more restric-
instructional materials chosen for each student tive guidance. Severe aggression might warrant
should be individualized. These materials may use of limited physical prompting focusing
need to address a number of variables includ- mainly on verbal and gestural models. Extremely
ing motor abilities, sight limitations, hearing disruptive behavior, such as ripping and throw-
deficits, attention deficits, and student interests. ing materials, may require more intrusive physi-
For instance, if a student has a hearing impair- cal guidance, at least initially.
ment, an FM receiver to amplify sounds may be These guidelines arrange space, materials,
helpful. Also materials should be visually stimu- and routines, to name a few, to reduce the prob-
lating and easily viewed from afar. By choosing ability of the problem behavior and increase the
materials based on these criteria, a teacher is occurrence of behavior that is appropriate and
less likely to encounter problem behaviors that necessary for learning skills and academics. This
arise out of boredom or frustration. attention to setting events or establishing opera-
Another important variable is the appro- tions, as discussed previously, decreases reli-
priate arrangement of educational materials. ance on staff intensive behavioral programs that
Although choosing materials based on cognitive employ positive and negative social contingencies.
and motor abilities is important, the presenta-
tion of these materials is equally important. The Reinforcement
use of easily destroyed or thrown materials with Every classroom should have a system of rein-
a child who has disruptive behavior will only forcement. Ideally, this system would include
contribute to these problems. Conversely, the reinforcement programs for both individuals
use of Velcro to attach materials to a table could and the group as a whole. However, it is impor-
serve to decrease the opportunity for problem tant to remember that individual students have
behaviors to occur, therefore maximizing the specific preferences, and what works to rein-
student’s opportunity to learn. In addition, it is force appropriate behavior for one student may
always a good idea to keep any excess materials not work for another. In addition, a student’s
out of reach or sight of the student. This will preferences can change, either gradually or fre-
also reduce distractions and self-stimulatory or quently. Therefore, students should be assessed
disruptive behaviors. regularly and reinforcement systems changed
Finally, prompting procedures (both verbal accordingly (Deleon, Fisher, Rodriguez-Catter,
and nonverbal) are critical tools for improving Maglieri, Herman, & Marhefka, 2001; Hanley,
skill acquisition and minimizing the occurrence Iwata, & Roscoe, 2006).
of maladaptive behaviors. Prompting procedures Some examples of reinforcement systems
should be selected according to the students’ commonly used in the classroom are 1) token
Figure 32.5. Example of a token board. The icon on the left is the reinforcer for which the
child is working.
boards and token economies, 2) sticker charts, reinforcement (i.e., practice). Notice that as
3) edible and tangible reinforcers (including practice progresses, two types of learning take
access to self-stimulatory behaviors), 4) class- place: how to perform the behavior correctly
room “stores,” and 5) extracurricular activities (e.g., tearing lettuce into bite-sized pieces), and
(see Figure 32.5). In addition, reinforcement when performing the behavior is likely to be
may be provided for a variety of contingencies. reinforced (e.g., in response to the instruction,
Students may earn tokens, for instance, for the “Let’s make a salad”). Key factors in develop-
absence of a problem behavior, the completion ing stimulus control are 1) the ability to per-
of a specified task, or the appropriate commu- form the behavior, 2) differential reinforcement
nication of a want or need. Furthermore, the of correct responding, and 3) attention to the
frequency at which these reinforcers should be relevant situational cues that signal that the
delivered is determined by a number of factors, behavior will be reinforced. Early in training,
including the student’s skill level, compliance, a learner’s response becomes more accurate
and motivation. It is a common practice to and eventually efficient as a result of corrective
deliver reinforcement more frequently when a feedback and reinforcement. At the same time,
system is first initiated and then gradually thin the key features of stimuli that control respond-
the schedule of reinforcement as student coming become more salient, making them easier
pliance and behavior problems improve. As the to detect across learning trials. Later in train-
frequency of reinforcement is decreased, it may ing, when nonessential features of the control-
be beneficial to provide visual cues (e.g., tokens, ling stimuli are varied (e.g., font of text, person
pieces of a puzzle) that indicate progress toward giving the command) or their context changes,
distribution of a reinforcer (McClannahan & stimulus control enables the learner to continue
Krantz, 1999). responding correctly. Stimulus control and
generalization, therefore, represent two ends of
a skill-training continuum linked in the middle
BEHAVIORAL by repeated practice opportunities in tandem
TEACHING STRATEGIES with feedback and reinforcement.
Goals of Effective Teaching Tailoring Instruction to

Teachers are rarely satisfied if their students’ Student Performance Levels
accurate performance of a new skill or behav- Whether learning to read, prepare meals, or
ior is only done with assistance and under engage in leisure or sporting activities, a stu-
simplified conditions. Rather, instruction is dent’s mastery of a skill is attained through a
considered effective when learners can perform sequence of stages referred to as the learning/
newly-acquired skills independently, with accu- instructional hierarchy or IH (Daly, Mar-
racy and fluency, and in situations outside of tens, Barnett, Witt, & Olson, 2007). The IH
training (what is termed generalization; Milten- describes behaviors to be learned and mastered,
berger, 2008; Stokes & Baer, 1977). Common not only by their form (e.g., single-digit addi-
forms of generalization include 1) performing tion, sums to 18), but by the proficiency level
the same skill when the stimuli that occasion with which they are performed (e.g., at least 20
it differ in some way from the training stimuli digits correct per minute two days after training
(e.g., holding up a yellow card to request atten- has ended). Each stage of the IH (i.e., acquisi-
tion from adults other than the therapist); tion, fluency and maintenance, generalization)
2) performing the same skill when the stimuli can be described by a different training goal
that occasion it are presented in different con- and performance measure (a learning hierar-
texts (e.g., requesting attention from adults at chy) and an associated set of teaching strategies
school and at home); and 3) combining differ- (an instructional hierarchy). Once the student
ent skills in ways not trained (e.g., holding up reaches the training goal at each stage, opportu-
the card and an empty glass to ask for a drink). nities for learning are maximized by then “shift-
Stimulus control is a prerequisite to all ing” the focus of instruction to the next stage.
forms of generalization and develops as the The IH is an important teaching tool for
learner’s response is brought under the control several reasons. First, it describes how perfor-
of certain key stimuli. Stimulus control does mance of a wide range of behaviors and skills
not happen instantly but accumulates gradually improves over time with effective instruction.
over time as learners receive multiple opportu- Second, because learning at each IH stage is
nities to respond with feedback and differential promoted in different ways, knowing how well
592 Cataldo et al.
a learner performs a skill enables selection of certain amount of assistance (i.e., prompting
the most effective teaching strategy for that and error correction), the assistance is with-
proficiency level (Daly et al., 2007). Third, drawn or gradually faded until the learner can
frequent performance monitoring allows for perform the skill accurately and independently.
changes in instructional procedures as needed Numerous procedures for systematically fad-
in order to maximize practice opportunities, ing prompts have been documented in previous
minimize errors, and avoid escape-motivated research and include the following (Erchul &
problem behaviors. In this respect, behavioral Martens, 2010):
approaches to effective teaching require educa- 1. Prompt and test, in which a set number of
tors to actively change their instructional activi- prompted trials are followed by unprompted
ties, and be responsive to improvements in their test trials to assess learning
students’ performance.
2. Prompt and fade, in which the prompt pre-
Acquisition sented on initial trials is gradually with-
drawn on later trials
The goal at the IH’s first stage, acquisition, is
3. Most-to-least prompting, in which succes-
for learners to perform a new skill or behavior
sively less-intrusive prompts from a hierar-
accurately on repeated occasions without assis-
chy are presented on subsequent trials after
tance. Performance measures during acquisi-
learners meet a performance criterion on
tion typically include the percentage of correct
previous trials
responses across trials, the percentage of errors,
and type of assistance provided. Because learn- 4. Least-to-most prompting, in which succes-
ers are attempting new skills and behaviors for sively more intrusive prompts from a hier-
the first time during acquisition-level training, archy are presented if needed after a delay
teaching these skills in their natural context on each trial
may provide too few learning opportunities 5. Graduated guidance, in which prompts are
or be too difficult for some learners. For these provided as needed
students, learning the skill in isolation at least 6. Time delay (constant or progressive), in
initially may be more effective. This requires which the controlling prompt is presented
teachers to guide students through a number of on initial trials immediately after the dis-
discrete learning opportunities with assistance criminate stimulus (0 second delay), with
(prompting), feedback, and reinforcement, presentation delayed on subsequent trials
or what are termed complete learning trials
(Granpeesheh, Tarbox, & Dixon, 2009; Milten- Promoting the acquisition of new, more
berger, 2008). A complete learning trial refers adaptive forms of behavior (e.g., imitation,
to an opportunity to respond that is controlled receptive language, appropriate play) is par-
by the trainer. Complete learning trials include ticularly important for children with autism
several components as illustrated in the follow- spectrum disorders (ASDs), who often fail to
ing example: learn such skills on their own. For these chil-
dren, complete learning trials form the basis
1. A task direction that includes key stimuli of a comprehensive training package known
(saying, “Pick up the fork”) as discrete trial training (DTT). With DTT,
2. A controlling prompt (holding up another children may receive up to several hours of
fork as a model) complete learning trials a day with breaks in
3. An opportunity to respond (waiting 10 sec- between each session or block of trials (Lovaas,
onds) 1987; Smith, 2001). During each session, data
are taken on the percentage of correct tri-
4. Corrective feedback for incorrect responses
als as well as the level of prompting required
(providing hand-over-hand guidance)
to produce a correct response. Because DTT
5. Reinforcement for correct responses (the takes learning out of context, it allows for more
child is given a bite of a preferred food individualized training (e.g., type of controlling
item) prompt, preferred reinforcers) and more fre-
Although prompts may take a variety of quent opportunities to respond. Moreover, the
forms (i.e., gesturing, verbal instructions, mod- careful use and gradual withdrawal of prompts
eling, pictures, partial physical guidance, full during DTT enables accuracy goals to be
physical guidance), controlling prompts con- reached with few or no errors, promotes posi-
sistently produce the correct response. Once tive interactions between teachers and learners
learners can perform a skill accurately with a as well as high rates of reinforcement, reduces
problem behaviors that are motivated by escape Because fluency building occurs gradu-
or avoidance, and decreases the chances of prac- ally and involves a variety of tasks and mate-
ticing errors. Once stimulus control has been rials, students are inevitably exposed to both
established with DTT, instruction can shift to programmed variations (e.g., different types of
teaching the skill in the natural environment clothing and fasteners when learning to dress)
through techniques such as incidental teach- and naturally occurring variations (e.g., inter-
ing or activity schedules, discussed previously ruptions by staff, dropped clothing items) in the
in the chapter. DTT has shown effectiveness stimulus conditions surrounding performance.
at teaching children with ASD a wide variety Under such conditions, practice to high levels
of behaviors including initiating conversations of fluency can also help promote the general-
with peers (Krantz & McClannahan, 1993) ization of responding. First, as performance
and functional communication using Picture becomes more efficient and even automatic, it
Exchange Communication System (PECS) becomes easier to execute at different times and
cards (Charlop-Christy, Carpenter, Le, LeB- in different contexts, and this ease of execution
lanc, & Kellet, 2002). itself can be reinforcing as students notice it
(Martens & Collier, 2011). Second, when cor-
Fluency and Maintenance rect performance is reinforced under different
During fluency building, the goal is to per- practice conditions and with different materi-
form an already acquired skill accurately but als, relevant dimensions of the key stimuli that
at higher rates as indexed by the frequency of control behavior become more easily recog-
correct responses during brief timings (e.g., nized. From this perspective, the benefits of
words read correctly per minute; McDowell & fluency building result, not only from increases
Keenan, 2001; Shinn, 1989). Productive prac- in response rate per se (Doughty, Chase, &
tice time should include 1) tasks and/or mate- O’Shields, 2004) but also from the strength-
rials to which the learner can respond with ening of stimulus control and stimulus gener-
high accuracy and minimal assistance (i.e., alization of prolonged practice under varying
instructionally-matched materials); 2) brief, conditions.
repeated practice opportunities with feedback In order to prepare both typically develop-
and reinforcement; 3) monitoring and charting ing children and children with disabilities for
of performance; and 4) performance criteria testing that was mandated in 2001 by the No
for changing to more difficult material (Chard, Child Left Behind Act (NCLB; PL 107-110)
Vaughn, & Tyler, 2002; Martens et al., 2007). public educators have emphasized the training
Implicit in these requirements is the need to of complex composite skills (e.g., reading a
assemble a large enough pool of materials, word problem in math, executing the relevant
sequenced by difficulty and with sufficient computations, graphing or writing a narrative of
variety, in order to allow for repeated practice the answer) instead of basic component skills
opportunities over time. Students are initially (e.g., fluency with multiplication facts). Fluency
assigned material to which they can respond researchers advocate the opposite approach and
with high accuracy but minimum fluency have found an interesting, albeit counterintui-
(e.g., at least 90% accuracy and between 50 tive, benefit of devoting time to building flu-
and 70 words correct per minute in reading). ency in basic skills. As learners develop basic
When students reach the performance goal on component skills to higher levels of fluency, less
material at this level (e.g., 100 words correct instruction and assistance is needed to combine
per minute on first-grade passages), practice these skills in the performance of more difficult,
begins again using more difficult material (e.g., composite tasks (Johnson & Layng, 1996).
second-grade passages), and the sequence is
repeated (Martens et al., 2007). Two aspects Generalization
of this sequence are noteworthy. First, fluency The goal of generalization training is accurate
building is a dynamic process that requires and rapid performance of behavior in the natu-
periodic changes in practice material to ensure ral environment or in situations that differ from
that it matches the student’s proficiency level. training. Generalization is best promoted by
Second, when using instructionally-matched reinforcing the correct use and application of
material, students require less assistance to skills with diverse materials, people, or contexts
respond correctly. This means that practice (Daly et al., 2007). By varying practice condi-
can still be productive minus direct teacher tions, learners gain experience in responding to
involvement. key stimuli in different contexts (e.g., identifying
594 Cataldo et al.
the symbol for men on bathroom doors in dif- and affective measures (Adams & Engelmann,
ferent public locations) and responding to key 1996; Watkins, 1997).
stimuli that differ in nonessential ways (e.g., Precision teaching (PT) is a behavioral
identifying the symbol for men when it appears instruction and monitoring program, also based
in different sizes, colors, or with other features). on the IH, that emphasizes practicing skills to
Based on the principle of stimulus control, high levels of fluency and charting of perfor-
a rule of thumb for promoting generalization is mance (Binder, 1996). PT involves daily, timed
that skills trained in one condition will transfer practices of basic skills (e.g., writing answers to
to another condition to the extent that the two math problems or reading aloud for 1 minute)
conditions are similar (i.e., contain the same until learners reach fluency levels high enough
key stimuli or reinforce the same behaviors in to promote maintenance and application (i.e.,
the same way). In order to promote general- Retention, Endurance, Stability, Application,
ization, this can be accomplished by training and Adduction [RESAA] fluency aims). Per-
in the natural environment or training under formance frequencies during these brief, timed
conditions that are made to resemble the natu- practices (e.g., 50 words correct per minute) are
ral environment in terms of stimuli, behaviors, displayed on charts that easily illustrate changes
or reinforcers. Common stimuli might involve in learning rate. The charts, in turn, are used
having the same people present or highlighting to evaluate the effectiveness of instruction and
common parts of words, training in multiple to make changes as needed. Students in PT
and varied settings, using multiple trainers, or classrooms have been shown to gain between
using a range of stimulus examples (Mesmer et two and three grade levels per year on group-
al., 2010; Silber & Martens, 2010). Focusing on administered achievement tests (Johnson &
behaviors that are trained in order to promote Layng, 1992).
generalization has included 1) training to high
levels of fluency as discussed previously (Cod-
SUMMARY
ding, Archer, & Connell, 2010); 2) training
behaviors that are useful in a variety of settings The decades since the 1950s have seen dynamic
(e.g., functional communication training; Char- advancement in society’s support to individu-
lop-Christy et al., 2002); and 3) training behav- als with developmental disabilities. Behavioral
iors that remind the child of what to do (e.g., research, based on operant learning theory, has
self-instruction training; Mithaug & Mithaug, resulted in innovative and effective approaches
2003). Finally, focusing on common reinforcers that have led to significant improvements in
has involved using reinforcers from the natu- the lives of individuals with developmental dis-
ral environment during training trials, provid- abilities. Much of this research has focused on
ing reinforcement on an irregular schedule and making socially significant changes to harmful
thereby encouraging persistence, and teaching behaviors, as well as improvements in skills nec-
children to recruit reinforcement (Cammilleri, essary for success in everyday community living.
Tiger, & Hanley, 2008).
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33 Occupational and
Physical Therapy
Philippa Campbell

■ Understand the role(s) that occupational therapists and physical therapists may
play in supporting families and helping children with disabilities to achieve their
full potential
■ Become familiar with common intervention frameworks and how they are
applied to children of different ages and disabilities
■ Identify intervention strategies used by pediatric therapists to enhance chil-
dren’s skill development and to increase participation in everyday activities
and routines
Children with disabilities may experience a and improve physical areas such as increasing
wide range of impairments in body structure strength or range or motion. Occupational
and function, limitations in participation in therapists also work with children whose per-
daily life activities, and restrictions in their formance may be affected by differences in sen-
ability to be an active part of their community sory processing often associated with autism
(World Health Organization [WHO], 2001). spectrum disorders (ASD), intellectual dis-
Occupational therapy and physical therapy ability, and learning disabilities.
are commonly recommended to enhance par- Experienced pediatric therapists are knowl-
ticipation in everyday activities and routines, edgeable about strategies to promote children’s
teach new skills, improve physical function, and learning across developmental areas. In terms of
prevent any possible future physical limitation. skill development, occupational therapy practice
Pediatric therapists frequently work with chil- usually focuses more on upper extremity and fine
dren’s families and other disciplines in a team motor skills (i.e., play and self-care) while physi-
approach and provide services in a variety of cal therapists more frequently center on lower
settings including homes, schools, and hospi- extremity or gross motor skills (i.e., mobility).
tals or clinics. Both occupational and physical Most therapists select play activities for young
therapists work with children who have expe- children as a context for providing specific inter-
rienced delays in learning various skills. They ventions. Depending upon the individual child’s
also assist children with physical dysfunctions, needs, these interventions may include exercise,
such as cerebral palsy and other neuromotor physical agents, splinting or casting, adaptive
or neuromuscular disorders, to acquire skills aids and equipment, adaptations and assistive
599
600 Campbell
technology, and behavioral training (American environment. She was, however, unable to sit
Occupational Therapy Association [AOTA], without support, and the muscle tone in her
2002; American Physical Therapy Association legs had increased compared with the tone in
[APTA], 2001). Overlap in the roles of physi- her arms. A diagnosis of spastic diplegic cere-
cal and occupational therapists exists for several bral palsy was made during a visit to the Neona-
reasons. Both professions require similar edu- tal Follow-Up Program, and she was referred for
cational backgrounds in human development,
early intervention services.
anatomy and physiology, the scope and nature of
An early intervention physical therapist
disabilities, and a general approach to habilita-
tion (teaching skills not yet learned) and reha- made weekly home visits and learned about
bilitation (teaching skills lost through illness how Ameena participated in typical family activ-
or injury). Postgraduate continuing education ities and routines and the extent to which her
allows therapists from both disciplines to develop motor disability affected her participation. At
advanced skills in selected interventions, such as 6 months of age, her motor disability primarily
splinting, application of assistive technology, and affected playtime activities and influenced func-
other specialized therapy approaches. The inter- tional skills, such as exploring her environment.
ests and talents of individual therapists, along As she got older, other motor skills such as walk-
with the philosophy and needs of the workplace, ing were affected by the high muscle tone in her
often dictate the exact nature of a therapist’s role
legs. This, in turn, affected how often she had to
in that setting.
be carried and her positioning for mobility, for
While important, both skill learning and
improving physical function are not the only example, in a stroller. The therapist arranged for
areas addressed by occupational or physi- Ameena to be fitted for bilateral foot orthoses
cal therapists. Both disciplines recognize the and showed her parents how to use them. She
importance of meaningful life outcomes as a and Ameena’s mother explored a variety of off-
goal of therapy services. These functional child the-shelf chairs, strollers, and walking devices
outcomes relate to children’s successful partici- and selected ones that allowed Ameena to be
pation in the everyday activities and routines independent. The physical therapist also taught
at home, in school, and in community settings. the mother a variety of strategies to use within
For example, satisfactory family mealtimes may typical activities and routines to provide oppor-
occur when a child independently eats and
tunities for Ameena to sit, crawl, and walk. By
drinks. The fact that mealtimes go well may be
3 years of age, Ameena was able to walk with
more important than whether or not the child
actually performs the skills of bringing the cup canes and was enrolled in a preschool program
or spoon to his or her mouth. A child may be where she was provided with adaptations and
independent at mealtimes by using a straw to assistive technology devices that allowed her to
drink from a cup that is fastened to the table. participate in classroom activities with the other
Similarly the utensils and dishes may be modi- children. Occupational and physical therapy
fied so that the child is able to hold the spoon consultations with the preschool staff allowed
and get it to the mouth independently. for design and use of supports to enable
Ameena to be successful in a variety of activi-
■ ■ ■ Ameena: Lifelong
ties, such as using the bathroom. Upon entering
Impact of Physical Disability
kindergarten, Ameena was eligible to continue
Ameena was born prematurely and was diag- receiving consultative physical therapy and
nosed with periventricular leukomalacia (a occupational therapy services under the provi-
cause of cerebral palsy; see Chapter 7) shortly sions of Section 504 of the Rehabilitation Act of
after birth. Physical therapy intervention began 1973 (PL 93–112).
in the neonatal intensive care unit (NICU). The At age 6, Ameena underwent orthopedic
physical therapist met with Ameena’s parents surgery to lengthen her lower extremity muscles,
and taught them ways of positioning her and followed by a period of intensive physical ther-
changing her position so that she would have apy to improve her hip and knee control. This
opportunities to develop postural control and allowed her to continue to walk for fairly long
maintain a quiet, alert state during her waking distances in her community with only the sup-
hours. By 6 months of age, Ameena was actively port of canes, although she preferred a manual
engaged with both people and objects in her wheelchair for extended trips. By third grade,
Occupational and Physical Therapy 601
Ameena was falling behind in schoolwork due child with a physical disability may be indepen-
to handwriting difficulties. Her occupational dent in visiting a neighborhood friend’s house
therapist recommended classroom modifica- with the use of a power chair and curb cuts in
tions that included provision of a word proces- neighborhood streets. A young child may par-
sor with accompanying instruction so that she ticipate in bath time by using a bath seat, foam
completed classroom assignments more effi- soap, and a washcloth mitt, even when he or she
is unable to sit independently or demonstrate
ciently. As she continues to progress through
grasp and release functionality.
school and participates in more extracurricular
activities, Ameena may not need continual or Intervention Frameworks
regularly scheduled occupational or physical
Used by Physical and
therapy sessions. However, occupational and
Occupational Therapists
physical therapists will be available throughout
her school career to provide consultation when The types of interventions used by occupa-
needed to address specific situations that may tional or physical therapists when working
with children of varying age levels or disabili-
occur or limit her participation in home, school,
ties are guided generally by one of two frame-
or community activities and routines.
works: a rehabilitation/traditional framework
or a participation-based framework. While
Therapy Types and Purposes many interventions are used within both disci-
Occupational and physical therapy have two plines, there are instances, particularly within
different purposes when provided to children the rehabilitation/traditional framework, where
with disabilities. The first purpose is rehabili- the expertise of a particular discipline is better
tation. Here therapy services are provided to matched to a specific situation. For example,
increase functional or developmental abilities a physical therapist would be more likely than
or to reduce limitations that may be pres- an occupational therapist to provide therapy
ent in physical or sensory areas (e.g., muscle designed to teach a child with a physical dis-
strength or tactile sensitivity). Therapy may ability such as myelomeningocele to walk,
help achieve increased range of motion or while an occupational therapist would be the
decreased sensory defensiveness. It may also more likely discipline to provide intervention
support learning a particular skill such as for a child with autism who has a sensory pro-
walking, reaching, grasping, or talking. A sec- cessing deficit.
ond purpose is to achieve full participation or
inclusion. When the purpose is participation,
The Rehabilitation
services may be directed less at addressing a or Traditional Framework
child’s physical or skill limitations than at Occupational and physical therapy are often
enhancing participation in activities and rou- delivered via a traditional framework when
tines that occur in the home, school, or other rehabilitation is the purpose (Campbell &
community settings (Campbell, 2004; Jung, Sawyer, 2007; Dunst, Trivette, Humphries,
2003; Rogers, 2010.) Raab, & Roper, 2001). In a traditional service
Therapy outcomes may include success- framework, also referred to as the “medical
ful completion of, for example, participation model,” individual disciplines focus on iden-
in home routines such as getting up in the tifying deficits (or areas of need) and then
morning, bathing, going to bed at night, and provide intervention to improve functioning
going on family errands like grocery shopping. in deficient areas. Physical therapists using a
It also includes active participation in school rehabilitation/traditional framework might
activities such as circle time, language arts, or provide exercises to increase a child’s muscle
after-school activities (Campbell, 2011b; Dunst strength or design activities to improve endur-
& Bruder, 1999; McWilliam, 2010). Participa- ance. When a child’s grasp has been identified
tion is not necessarily tied to improvements in as deficient, occupational therapists might
physical limitations or increases in skill learn- create opportunities for a child to hold and
ing; it may result from environmental changes manipulate toys to eventually achieve inde-
or the use of adaptations including assistive pendent play skills.
technology (AT; Campbell, Milbourne, & Wil- In pediatrics, traditional services are more
cox, 2005; Jones & Gray, 2005a; Jones & Gray, frequently provided in acute care or rehabilita-
2005b; Milbourne & Campbell, 2007; Sadao & tion hospitals or clinics than in early intervention
Robinson, 2010; Chapter 36). For example, a or school-based settings. Therefore physicians
602 Campbell
and other medically-based personnel may be general education curriculum (e.g., Campbell,
more familiar and comfortable with a traditional 2004; Dunst, 2001; Law et al., 2006; Rogers,
than with a participation-based framework. Fig- 2010; Coster & Khetani, 2010).
ure 33.1 illustrates a “traditional service” pro- Participation frameworks are tied directly
cess. In general, a physician or other professional to the World Health Organization’s Classifi-
refers a child for evaluation from which the OT cation of Functioning, Disability and Health
or PT makes recommendations and plans for (ICF, 2001), which considers disability as an
intervention, follows through on the recom- interaction among a number of components
mended plan, and discontinues services when the that may limit or promote functioning includ-
child has either achieved goals or made as many ing disease, structure, activity (i.e., skill perfor-
gains as are likely in the short term. mance), environment, and participation. The
WHO interactive perspective allows therapists
The Participation-Based Framework not just to provide exercises or activities to
From birth through the early young adult years, remediate structural or activity limitations; the
a majority of children with disabilities who interactive perspective also recommends strate-
receive occupational or physical therapy services gies to support participation by addressing the
do so through publicly-supported early inter- social and physical characteristics of the envi-
vention or school programs, although additional ronments where the person with a disability
therapy services may be provided privately. The spends time. This model expands the focus of
emphasis in early intervention therapy is shift- both occupational and physical therapy beyond
ing from a rehabilitation focus to a broader per- structure and activity (i.e., skills) to encompass
spective where therapy outcomes are expected environmental and participation components.
to enhance infants’ and toddlers’ participation A physical therapist addresses environment and
in natural environments. In older children the participation components, for example, by eval-
focus is on inclusion and participation in typi- uating a child’s home and/or school environ-
cal school settings including their access to the ment and making recommendations to install a
Steps In Providing Traditional Occupational or Physical Therapy Service
Identification
Referral to therapy
Evaluation
Recommendation:
needs therapy
No or Establish child outcomes,

not at this time goals, objectives
Determine frequency,
intensity, duration
Discharge Scheduled follow-up
Provide service
Sufficient progress? Design treatment
YES
Attains goals Activities
Monitor progress
NO
Figure 33.1. An illustration of a traditional service process.

ramp or arrange classroom furniture so that a autism, cerebral palsy, learning disabilities).
child may move independently in a wheelchair Occupational and physical therapists work with
or safely when using crutches or a walker. a child and family as part of a team of profession-
In work with infants and young children, als; they seldom work in isolation. Many differ-
participation has been interpreted through mod- ent structures have been described to delineate
els such as routines-based intervention (McWil- various types of teams and to outline team mem-
liam, 2000, 2010; Stremel & Campbell, 2007), ber roles. Teams are described using labels such
activity-based physical therapy (Valvano & Rap- as multidisciplinary, interdisciplinary, transdisci-
port, 2006), participation-based services (Camp- plinary, integrated, collaborative or single service
bell, 2004, 2011a; Campbell & Sawyer, 2007, provider. They may also be labeled by the service
2009) and coaching other professionals (Buysee plan title (e.g., IEP team). The array of struc-
& Wesley, 2007) and caregivers (Hanft, Rush, & tures defines different ways that professionals
Shelden, 2004; Rush & Shelden, 2011). In school interact with children, families and each other,
settings, the term inclusion is used to represent and describe how services are coordinated.
children’s participation in school settings and Different team structures inherently entail
activities. An important purpose of school-based roles for both families and professionals. For
therapy is to enable children to access the general example, in an interdisciplinary team, a profes-
education curriculum and participate in social sional from each discipline conducts an evalua-
activities (Dunn, 2011; Effgen, 2005, 2006). tion separately, meets with the team to discuss
A common element across both early inter- findings, and then makes recommendations for
vention and school-based therapy is to embed services to the family. In contrast members of a
the child’s goals and interventions into family or multidiscipinary team might conduct an arena
classroom activities and routines (Dunn, 2007; evaluation, where all team members evaluate and
Pretti-Frontzcak & Bricker, 2004; Sandall & discuss the child’s needs at the same time. Families
Swartz, 2008; Wilson, Mott, & Batman, 2004). are acknowledged as members of most teams, but
One approach has been developed that encom- in reality families may or may not be substantively
passes 1) assessment of the child’s participation included in decision making or implementation of
in activities and routines, 2) embedding the interventions. For example, a caregiver may not
child’s intervention strategies in daily activities, truly be an equal team member when all therapy
3) collaborating with and training caregivers and is provided in a school setting and the parent and
teachers, and 4) monitoring the child’s progress the therapist(s) communicate little outside of the
(Campbell, 2010; Campbell, Milbourne, & annual IEP meeting.
Kennedy, 2012). In this approach, activities and In services provided to children, the most
routines provide a context for embedding two commonly used team structures are transdisci-
distinct categories of intervention strategies: plinary, integrated, collaborative, or single ser-
1) adult-provided intervention strategies; and vice provider, all of which describe fairly similar
2) adaptations including environmental modi- team structures. The common feature across
fications, assistive technology (AT), and visual these approaches is the central role of profes-
supports. Because therapists are unlikely to be sional team members as consultants to and
with a child during all typical daily activities and teachers of families and other team members
routines, other adults who spend time with the rather than as hands-on providers of therapy
child such as parents, child care workers, rela- for children (King, Stracham, Tucker, Duwyn,
tives, and professionals of various disciplines, Desserud, & Shillington, 2009). In these struc-
are taught how to embed the intervention strat- tures, team members such as occupational and
egies within typical activities and routines. physical therapists spend considerable time con-
sulting with and teaching caregivers, teachers,
Team Structures or other health care professionals (e.g., speech
and language pathologist). When therapy ser-
and Therapist Roles
vices are provided in traditional ways, the OT
Traditionally, therapists’ roles have focused on or PT might teach specific activities or strate-
evaluating performance and providing hands-on gies to use with a child in a home or follow-up
intervention to help children improve physical program. But when services are provided from
functioning or acquire identified skills. Thera- a participation-based framework, teaching is
pists have played this direct service provider role explicit and focuses on embedding intervention
to children across many settings (i.e., school, strategies within existing activities and routines.
home, clinic), age levels (i.e., infant to ado- Even though therapists may have willingness to
lescent), and developmental disabilities (e.g., teach others, recent data suggest that many of
604 Campbell
them lack experience teaching other adults and in gross motor developmental skills such as sit-
thus lack confidence to do so (Campbell, Mil- ting, crawling, or walking. As the child gets older
bourne, Chiarello, & Wilcox, 2009). Other data the therapist may examine functional mobility in
show positive outcomes when therapists teach the school or neighborhood or even when using
others. For example, parents report increased public transportation. In a traditional framework,
confidence and competence when taught about when deficits or delays are identified, therapists
interventions such as adaptations and assistive design special activities to provide opportunities
technology (Kling, Campbell, & Wilcox, 2010). for the child to acquire or master skills (Camp-
bell, Vanderlinden, Palisano, 2006; Dunn, 2011;
Effgen, 2005). The underlying philosophy is
Features of Pediatric that when improvements are noted in skill per-
Therapy Services and formance, children will be able to participate
the Role of Therapists in a variety of tasks, activities, or routines. For
example, if a child is unable to dress or undress
Although the emphasis of therapy is different
independently because fine motor skills are not
within traditional and participation-based frame-
performed well enough to manage fastenings, the
works, evaluation/assessment, intervention plan-
child must improve his or her fine motor skills
ning, implementation, and progress monitoring
before becoming independent in the task of dress-
are common components of both frameworks.
ing, improvements in fine motor skills will be nec-
Each component, however, may be implemented
essary before the child will be independent in the
differently (Table 33.1) and is discussed next.
task of dressing or in morning routines.
Therapists also assess areas related to motor
Evaluation and Assessment skill performance such as endurance, efficiency,
Therapists select different evaluation and assess- or speed, and determine the level of function-
ment instruments dependent on the age of the ing in body structures such as joints, muscles, or
child being evaluated and the therapy framework sensory systems (e.g. vision, hearing). Occupa-
being used. The evaluation process typically tional therapists, for example, may use family- or
depends on using formal tests or instruments to teacher-completed checklists or questionnaires
assess the child’s skill in developmental or physi- to gather information about areas such as sen-
cal areas and to identify areas where performance sory processing, temperament, or behavior. If
does not meet a particular standard such as an occupational therapist’s role on a team is to
chronological age, speed, or efficiency (Bagnato, be responsible for the child’s eating, other adap-
Neisworth, & Pretti-Fronczak, 2010; Chiarello tive/self-care, and fine motor skills, then formal
& Kolobe, 2007; Dunn, Nickelson, Cox, Pope, & instruments or informal assessments are used
Rinner, 20011; Effgen, 2006). A physical therapist to measure baseline performance in these tasks.
evaluating an infant or young toddler is likely to Physical therapists may use instruments to mea-
select instruments to determine a child’s abilities sure gross motor skills such as walking, jumping,
Table 33.1. Features of traditional and participation-based frameworks

Feature Traditional service framework Participation-based framework
Evaluation/assessment Standard evaluation measures and Assessment of participation in
clinical judgment to determine typical activities/routines via
functioning in comparison to a interview, survey, observation;
norm evaluation measures/clinical
judgment of functioning
Intervention planning Identify goals and outcomes Identify goals and outcomes
based on areas where deficits based on activities/routines
are identified (e.g., skills; physi- going well or not going well
cal structure)
Implementation Direct intervention by the thera- Adult-administered, environmen-
pist with the child; caregiver or tal or adaptation intervention
other adult may observe and strategies embedded into activi-
carry-over using home program ties and routines; collaboration/
suggestions teaching for people who will use
the interventions
Progress monitoring Track client progress by review Track client abilities to participate
of performance of goals and in activities/routines successfully
objectives
or balance, and use observation or clinical judg- from one class or activity to another). Student
ment to assess strength, range of motion, and performance is assessed in terms of the number
endurance. Evaluation results provide informa- and type of supports required to achieve inde-
tion to support recommendations for therapy pendence). The focus of this type of assessment
services and provide a basis for establishing ther- is on identifying areas where performance may
apy goals and objectives and measuring change be enhanced so that the child is more success-
over time. ful in environments such as schools. This has
The same skill performance evaluations a distinctly different purpose than evaluation
and assessments of physical functioning are measures designed to assess skill performance or
implemented when therapy is provided within physical functioning in order to identify deficits.
a participation-based framework. Additionally, Other newly developed instruments such
the therapist collects information about activi- as the Children’s Assessment of Participation
ties and routines that are part of settings where and Enjoyment (CAPE; King, Law, King,
children spend time. Therapists may gather this Hurley, Hanna, & Kertoy, 2004) or similar
information by observing a child, interviewing instruments for use with preschoolers (Kemps,
those who spend time with the child, or using Siebes, Gorter, & Ketelaar, 2011; Petrenchik,
surveys or checklists to find out about settings, Law, King, Hurley, Forhan, & Kertoy, 2006)
activities and routines. Before children are able assess participation based on parental or client
to clearly explain their own experiences, parents report. Information is provided about a child’s
or other caregivers provide information about preference or interest in particular activities as
what happens in typical family routines, such as well as the frequency and intensity of partici-
at bath or meal time (Campbell, 2011; McWil- pation in recreation, leisure, and other related
liam, Casey, & Sims, 2009; Woods & Line- activities. These instruments are used to assess
man, 2008). Occupational or physical therapists interest and participation in extracurricular or
might select instruments such as the Routines- non-school activities so that therapists may sup-
Based Interview (RBI; McWilliam, 2010) or the port families to expand opportunities for their
Assessment of Family Activities and Routines children with disabilities and provide supports
(Campbell, 2005, 2011). When children are for child engagement and success.
older, therapists may directly observe partici- When disability is viewed from the per-
pation in structured settings such as child care, spective of the International Classification of
school activities, or routines, or may use inter- Functioning, Disability, & Health (ICF, 2001)
views or checklists to gather information from it is clear that far more instruments are avail-
teachers (Campbell, Milbourne, & Kennedy, able to assess the dimension of activity (i.e., skill
2012; Milbourne & Campbell, 2007; Sandall performance) than to assess environment or par-
& Schwartz, 2008). These formats are designed ticipation dimensions (Bagnato, Neisworth, &
for intervention planning and to help identify Pretti-Fronczak, 2010). Some instruments have
therapy goals. Therapists may intervene to “fix” been published that measure structural factors
activities or routines that are not going well or such as muscle strength or the sensory systems,
to embed learning opportunities and therapy but more often structure is assessed through indi-
intervention strategies into activities or rou- rect and informal clinical judgment-based proce-
tines that are going well. dures. With the exception of the SFA, rarely do
Because encouraging the child’s participa- available instruments consider the environments
tion in daily activities is an emerging focus in in which the child needs to function.
pediatric therapy, ways of assessing participa-
tion is an emerging area of test development. Intervention Planning
New instruments are being designed and tested All disciplines and programs use an interven-
so that participation may be measured over time tion plan of some sort to define outcomes or
(Coster & Khetani, 2010). Evaluation instru- goals. Most plans include essentially the same
ments such as the School Function Assessment features but may differ based on the service set-
(SFA; Coster, Deeney, Haltiwanger, & Haley, ting or funding source. In early intervention
1998) are designed to assess the child’s partici- programs funded through Part C of IDEA or
pation in elementary school activities and rou- through Early Head Start, individualized family
tines over time so that progress can be assessed service plans (IFSP) are used. For school-aged
through readministrations of the instrument. children individualized education programs
Participation is evaluated in activities or rou- (IEPs) or 504 plans define goals while services
tines that occur in settings such as the classroom, for children in residential settings are gener-
cafeteria, bathroom, or hallways (for transition ally described in individual habilitation plans
606 Campbell
(IHPs). In hospitals, rehabilitation centers, or primary distinguishing features are 1) the activity/
outpatient programs, children’s therapy services routine that is used for intervention, and 2) the
generally also require treatment plans with sim- ways in which the actual intervention strategies
ilar information to that written on documents are delivered. In traditional services, the thera-
such as the IEP, IFSP, or IHP. pist plans and selects the activity through which
Optimally, the evaluation/assessment infor- therapeutic opportunities will be provided and,
mation of one discipline is integrated with data via hands-on interaction with the child, func-
from other disciplines and then goals are identi- tions as the implementer of both the activity and
fied in collaboration with the child and family. the intervention. The therapist may also design
When intervention is remedial in focus, goals are programs for the caregiver to do with the child
based on evaluation data about structure and skill outside of the therapy session. This may involve
performance. Goals target what needs to be fixed writing up or illustrating program directions or
(e.g., increase range of motion) or improved (e.g., modeling the therapy for parents, caregivers, or
pick up small objects using a pincher grasp; walk teachers.
10 steps without assistance). Therapists then In contrast, natural activities that occur in
design treatment and home program activities to home, child care/school, or community settings
provide opportunities for improvements in these are therapeutic opportunities when participation
skills. For example, an OT might suggest a table- is the goal. Intervention strategies are not deliv-
top play activity where small toys are provided so ered directly as they are in providing traditional
that opportunities to use and practice a pincher services but are embedded into activities/routines
grasp occur. Or, a physical therapist might use an and implemented by the person who spends time
activity where a child’s parent stands away from with the child in that setting. Therapists collabo-
but leaning toward the child, encouraging inde- rate with parents, caregivers, and teachers and
pendent steps. explicitly teach them both how to create learn-
When services aim to promote the child’s ing opportunities and implement therapeutic
participation in activities/routines, goals are interventions by embedding them within these
based on assessment data about the child’s par- naturally occurring routines/activities (Colyvas,
ticipation in combination with information Sawyer, & Campbell, 2010; Spagnoia & Fiese,
about any structural or skill performance limita- 2007; Woods, Kashinath, & Goldstein, 2004).
tions. Integrating assessment information from The responsibilities of the therapist in tra-
all three sources (i.e., skill, structure, participa- ditional services are to 1) identify the areas in
tion) helps support goals that emphasize reduc- which a child needs to develop; 2) design activities
ing the negative impact of structural, skill, or such that learning opportunities are present; and
environmental limitations on the child’s partici- 3) show parents, caregivers, or teachers activities
pation. For example, if a child with difficulties they can use to support learning between therapy
grasping small objects is unable to participate in sessions. In contrast, the responsibilities of the
play activities with other children at child care, a therapist providing participation-based services
goal may be to increase playtime participation by are to 1) learn about activities/routines that are
using environmentally based interventions. This going well or not going well for the child as well
could include adaptations and assistive technol- as areas in which a child needs to develop; 2) col-
ogy, such as correctly-sized toys so that the child laboratively create plans for embedding learning
is able to participate regardless of having the fine opportunities and intervention strategies into
motor skills to manipulate small objects/toys. existing activities/routines; and 3) teach parents,
The emphasis in a participation framework is on caregivers, and teachers how to create learning
using existing activities/routines rather than cre- opportunities and use intervention strategies.
ating therapist-designed activities.
Progress Monitoring
Implementation Tracking the child’s performance and the out-
Traditional services can take place anywhere: a comes of occupational or physical therapy
hospital, therapy clinic, child care program or services is important irrespective of whether a
school, or home. Participation-based services traditional rehabilitation or participation-based
are more likely to be implemented in typical set- framework is employed, where the therapy
tings (e.g., child care, home, school classroom or is being provided, or what sources of funding
other areas, community settings) than in hospitals are being provided (Case-Smith & O’Brien,
or clinics. However, physical location where ser- 2010; Dunn, 2011; Effgen, 2005). Monitoring
vices are provided is not the distinguishing factor the child’s progress allows therapists to deter-
between the two service frameworks. Rather, the mine if implemented intervention strategies are
working or should be changed and to determine In order to help a child eat independently, a
when goals are achieved. Progress monitoring therapist might carefully consider how the child
also provides objective data to inform adjust- is positioned and then use an adapted spoon, a
ments in the frequency or duration of therapy special bowl or plate, or even a feeding device
services, including discontinuing therapy when so that the child is able to eat independently and
goals have been achieved to the satisfaction of without adult assistance. In this situation, the
the child or caregiver or when therapy is no therapist promotes participation and indepen-
longer of benefit to the child or family. dence via the use of adaptations and AT devices.
This contrasts with the use of a hand-over-hand
Intervention Strategies feeding strategy where the required motor pat-
tern is potentially taught through movement
Both occupational and physical therapists employ experience and practice. The two types of inter-
a variety of intervention strategies that enable the vention strategies are not necessarily mutually
child to learn and practice new skills and partici- exclusive and are frequently combined. For
pate successfully in activities and routines across example, a therapist might consider 1) posi-
many settings. Intervention strategies may be tioning, 2) providing the child with an adapted
divided into two basic categories (Campbell, spoon and dish, and 3) using the adult-aided
2010; Campbell, Milbourne, & Wilcox, 2008). intervention strategy of hand-over-hand feed-
The first category is strategies requiring an adult ing.
to implement them with a child. For example, Each of the these two intervention cat-
physical guidance is an intervention strategy used egories are further subdivided into levels:
by both occupational and physical therapists to 1) universal, used with all same-aged children;
guide a movement pattern so that the child is able 2) specialized, used with some but not all same-
to perform a particular skill. A therapist might aged children; and 3) customized, used only in
physically guide the hand and arm so that the very specific circumstances. Table 33.2 provides
child moves a spoon to the mouth, sometimes examples of strategies for each of these levels.
called hand-over-hand feeding. In a situation like
this, a child is being taught how to eat using a
spoon. The strategy provides passive practice and
Universal Intervention Strategies
experience of the movement pattern. Strategies are labeled as universal because of
A second intervention category is labeled their use with all children, whether they have
as environmental strategies and includes adap- disabilities or delays or are, in fact, developing
tations and AT interventions. These do not typically. Universal strategies are not linked to
require another person and, in fact, are designed a particular discipline and, because anyone may
to allow a child to be independent without any use these strategies with children, few require
greater amount of adult assistance than would specific training or expertise. Any strategy that
be appropriate for the child’s chronological age. supports child learning and participation and
Table 33.2. Examples of categories and levels of intervention strategies

Category
Require another person Environment, adaptation, & assistive
to use with child technology
Universal Physical prompting or cueing; labeling; High chair; bath seat; computerized toys;
expanded language; selection of age- special spoons and bowls; choice making
appropriate toys; opportunity to use or with pictures; picture schedule boards
do; opportunity to practice; feedback for
correct performance or behavior
Specialized Physical guidance; specially designed Picture communication board; personal
reinforcers; time delay; specially designed picture schedule; if-then board, social
access and practice (e.g., treadmill) story book; bath seat for 4-year-old; use
of off-the-shelf battery-operated car for
mobility
Custom Craniosacral therapy; neurodevelopmental Power chairs; computerized communica-
therapy tion devices; access to and specialized
computers; architecturally (universally)
designed bathroom for wheelchair acces-
sibility
608 Campbell
may be used by parents, teachers, child care- moving the spoon to the mouth is the ability to
givers, therapists, and other professionals is eat a highly preferred (as opposed to a disliked)
included in this category. food. One of the consequences of activating a
Occupational and physical therapists use computer-based toy may be to hear sounds. A
universal strategies such as opportunity, prac- consequence of being positioned in a car seat
tice, and consequences to promote the child’s is to see the environment from a different per-
acquisition of sensory or motor skills and to spective than when lying on the floor at home.
further their participation in activities or rou- Occupational and physical therapists help
tines. A primary universal strategy is opportu- children achieve skill acquisition and success-
nity. Children need opportunities to perform a ful participation in activities or routines by
particular skill in order to learn how to use the using universal intervention strategies. For
skill. A child who is never placed on the floor example, therapists who use strategies to sup-
may lack the opportunity to perform motor port the child’s sensory processing may suggest
skills, such as rolling or crawling. Similarly, a adaptations that any caregiver might perform.
child who is dressed by her parents lacks oppor- Examples include cutting tags out of the back
tunities to learn dressing skills. All children of shirts so that they don’t bother the child,
also need opportunities to participate in activi- and providing play opportunities such as find-
ties or routines. Any infant or young child can ing objects “hidden” in wet sand to give tactile
be placed in a bath seat to increase the child’s learning experiences (Dunn, 2007). Many of
opportunities to participate safely in bath time. the motor learning strategies used by therapists
Similarly, children’s opportunities to participate to promote a child’s acquisition of motor skills
in playtime are structured by the types of toys are based on opportunity, practice, and conse-
provided. A 6-month-old’s toys are different quences (Hickman, Westcott, Long, & Rauh,
from those that would be safe or of interest to a 2011; Valvano & Rapport, 2006). Occupational
4-year-old. Both the bath seat and the types of and physical therapists are likely to have more
toys are examples of universal-adaptation/AT- knowledge of these universal strategies (as used
intervention strategies. in sensory or motor skill situations) than most
Another strategy that supports all chil- parents, caregivers, or teachers.
dren’s learning is practice—a strategy that goes
hand in hand with opportunity. The child is Specialized Intervention Strategies
afforded opportunities to use a particular skill, Universal strategies that are used longer than
to participate in a specific activity, or to rou- would be typical for children or are individual-
tinely practice these skills by virtue of having ized to reflect unique needs are included in the
repeated opportunities to use them. Practice is category of specialized intervention strategies.
a primary learning strategy for refining skills These strategies are more carefully designed
and performing them competently for func- than are universal strategies. For example, most
tional use. A child who engages in outdoor play children under 9–18 months of age would sit in
many times will be better at using equipment a bath seat if being bathed in an adult bathtub,
and interacting with other children than when but most children older than 18–24 months do
first spending time at the playground. not require this adaptation as their sitting bal-
A third universal strategy is broadly termed ance allows them to participate safely. Bath seats
consequences. This strategy describes outcomes are a specialized-adaptation/AT-intervention
that follow the child’s actions either by design strategy that might be suggested so that an
or naturally as part of the environment. For older child without sufficient sitting balance
example, a child may crawl not just for the sake may participate safely in bath time. Similarly,
of moving around but for the purpose of obtain- permitting logical consequences to an action
ing a toy or to be picked up by a caregiver. The is a universal strategy used with all children.
natural consequences to crawling, in this exam- When a specific consequence is selected and
ple, include playing with a toy or being cuddled used, for example, to motivate a child to move,
by a caregiver. A physical therapist who wants the intervention is now specialized because it
a child to crawl may place a preferred toy dis- has become individualized to a particular child’s
tant from the child, creating an opportunity for unique characteristics.
the child to crawl, and then may encourage the When a child is initially taught self-feeding
child by drawing attention to the consequence only by feeding herself ice cream, a food that
of crawling (e.g., being able to play with the she really likes, the consequence of bringing the
toy). Self-feeding with a spoon is likely to be spoon to the mouth has been individualized to
acquired more rapidly when the consequence of match this particular child’s preferences and to
promote learning to eat with a spoon indepen- the area of sensory integration. Certification in
dently. Infant- or preschool-sized treadmills are design and use of positioning equipment and
another example of a specialized intervention assistive technology is also available for therapists
strategy to promote acquisition of walking skills who wish to acquire expertise in designing posi-
by providing maximum opportunities for prac- tioning devices such as adaptive seating includ-
ticing taking steps (Angulo-Barroso, Burghardt, ing power chairs. Occupational and physical
Lloyd, & Ulrich, 2008; Ulrich, Lloyd, Tiernan, therapists also may pursue pediatric specializa-
Looper, & Angulo-Barroso, 2008). A picture tion within their disciplines by acquiring post-
schedule board posted on the wall is likely to graduate knowledge, training, and skills specific
be used by a child care or preschool teacher so to pediatric practice. There are many other spe-
that all the children know what is happening cialized techniques such as constraint-induced
throughout the day. When an individualized therapy or specific handwriting approaches that
picture schedule board is made for a child who may not require certification but are best used
has difficulty with concepts of time or knowing by therapists who have completed training in the
what will happen next, this universal strategy particular custom strategy.
has been individualized and used in a special-
ized way (Kluth & Danaher, 2010; Milbourne
& Campbell, 2007; Sandall & Swartz, 2008; Evidence-Based Intervention
Schwarz & Kluth, 2007).
Use of all intervention strategies but especially
Both occupational and physical therapists
specialized and custom strategies should be
may design a variety of specialized strategies
based on evidence of their appropriateness and
that require involvement of another person, are
effectiveness. Optimally, this evidence should be
adaptations or AT, or are a combination of both
the result of well-designed research studies that
adult-directed and adaptation interventions.
have tested the intervention systematically (Law,
Although therapists design specialized strate-
2002a; Palisano, Campbell, & Harris, 2006).
gies, they are not likely to be the only people
A body of research evidence about the use and
who will implement these strategies with the
effects of therapeutic interventions is just emerg-
child. When specialized strategies are embed-
ing in both the occupational and physical ther-
ded into the child’s activities/routines, other
apy fields. Availability of well-designed studies
adults, or peers who spend time with the child,
of almost any practice or intervention strategy is
become the implementers.
limited although some studies have examined the
Custom Intervention Strategies effectiveness of strategies such as using weighted
vests (Fertel-Daly, Bedell, & Hinojosa, 2001),
These interventions are used most often with
providing treadmill training (Dieruf, Burtner,
children who have diagnoses such as sensory
Provost, Phillips, Bernitsky-Beddington, & Sul-
impairment, motor disability, autism, severe
livan, 2009), and teaching power mobility (Rago-
health conditions, sensory processing disorders,
nesi, Chen, Agrawal, & Galloway, 2010).
or specific language disorders or some combina-
A well-established research base for a par-
tion of these conditions. Children with diagnoses
ticular practice or intervention strategy is only
such as these are often labeled as “low incidence”
one source of evidence. Data about potential
within the population of children with special
appropriateness or effectiveness may be gath-
needs. They are the children, however, most
ered from other sources such as policy or expe-
likely to benefit from customized occupational
riential knowledge (Winton, Buysse, Epstein,
or physical therapy interventions. Use of these
& Lim, n.d.; Law, Baum, & Dunn, 2005). A
customized strategies may require specialized
first step in searching for various types of evi-
training, certification, or other credentials. For
dence is to define the practice (e.g., interven-
example, occupational and physical therapists
tion strategy) operationally so that the practice
complete specific requirements to become cer-
that is being investigated will be understood
tified to practice neurodevelopmental treat-
across people and situations. For example, an
ment (NDT), an intervention approach used
operational definition of the category of adap-
with children with neurologically based motor
tation and AT intervention strategies might be
disabilities such as cerebral palsy. Therapists
worded as
may need advanced training to use other cus-
tom interventions such as craniosacral therapy Assistive technology (AT) interventions involve
or myofascial release (MFR). Additional train- a range of strategies to promote a child’s access
ing and certification to administer and interpret to learning opportunities, from making simple
tests is also needed by therapists working within changes to the environment and materials to
610 Campbell
helping a child use special equipment. Combining occupational and physical therapy profession-
AT with effective teaching promotes the child’s als may not always be distinct especially among
participation in learning and relating to others. experienced therapists. Many factors differen-
(CONNECT, 2012) tiate how therapists work and what they do in
their discipline. Therapists focus on children’s
The operational definition forms a basis
skill acquisition and use, and on their participa-
for using literature-based search engines such
tion in everyday activities and routines.
as PubMed or ERIC to identify peer-reviewed
Therapists may do things differently
research reports but also provides structure
depending on whether they use a traditional or
for Internet searches to identify a wider range
participation-based framework, the settings in
of evidence including policy or best-practice
which they practice, and the ages and disabili-
documents. Both the American Occupational
ties of children with whom they work. When
Therapy Association (AOTA) and the American
using a traditional framework, therapists are
Physical Therapy Association (APTA) provide a
likely to create activities to provide learning
number of publications that discuss best practice
opportunities, work directly with the child, and
for therapists working in pediatrics. These doc-
create follow-through programs to be used by
uments give guidance about the extent to which
other people (e.g., parents, teachers). Thera-
an intervention is appropriate for a particular
pists practicing from a participation-based
age group or type of disability or is within the
framework will embed learning opportuni-
scope of practice for the profession. Therapists
ties and intervention strategies within existing
make decisions about intervention approaches
activities or routines and teach others how to
by using policy and best-practice documents as
implement the strategies. Therapists who prac-
a source for determining the appropriateness of
tice in school settings may collaborate more
an intervention practice.
with children themselves or their teachers than
A third source of evidence is experiential
with children’s parents but, when working with
knowledge, a source that is used by many clini-
infants, are likely to work more with families.
cians to judge both appropriateness and effec-
Practice may also look different depending on
tiveness of intervention practices. Within this
the age of the child as well as limitations in the
category is a therapist’s own personal experi-
child’s performance or participation. As with
ence as well as the experiences of the recipients
other professionals, occupational and physi-
of the practice. For example, testimonials from
cal therapists are likely to use what they know
a group of people about effectiveness or their
about and what matches their cultural values,
own personal satisfaction with a practice are
childrearing perspectives, and other personal
widespread and easily accessed via the Internet
factors. Strategies used by therapists may be
and social networking or video websites. Expe-
based more often on experiential or policy/best-
riential knowledge is an important source of
practice evidence, although there are emerging
evidence but needs to be balanced with other
databases documenting the effectiveness of par-
evidence sources and considered objectively.
ticular therapy strategies. In the future, these
In highly clinical fields such as occupational or
data may provide therapists with a more robust
physical therapy, intervention strategies origi-
basis for making decisions about the appropri-
nating from clinical practice situations may
ateness and effectiveness of both occupational
eventually be found to be effective (or not).
and physical therapy intervention strategies
In other words, a therapist may try something
used with children.
out with a child and find it successful and then
try it out with other children, thus creating an
experiential data base about a practice that may References
inform future decisions about its appropriate- Angulo-Barroso, R., Burghardt, A.R., Lloyd, M.,
ness and effectiveness. Ulrich, D.A. (2008). Physical activity in infants with
Down syndrome receiving a treadmill intervention.
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(2010). Linking authentic assessment & early childhood
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Basu, S., Salisbury, C.L., Thorkildsen, T.A. (2010).
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34 Physical Activity,
Exercise, and Sports
Donna Bernhardt Bainbridge and James Gleason

■ Be familiar with the specific benefits of exercise for the child with developmen-
tal disabilities
■ Be aware of the laws regarding the inclusion of children with physical and cogni-
tive disabilities in physical education and community programs
■ Understand how to incorporate physical education adaptations into a child’s
individualized education program (IEP) based on his or her abilities
■ Be aware of community sports and recreation programs available to children
with special needs
■ Know about the pre-participation evaluation for children and adolescents with
disabilities
■ Have knowledge of the types of injuries encountered in athletes with disabilities
Physical activity is important for all children as also promotes psychological health and well-
it promotes general and cardiovascular health being. In a recent study by Parfitt, Pavey and
(Faulkner, Lurbe, & Schaefer, 2010), weight Rowlands (2009), children with higher levels of
management (Kitzman-Ulrich et al., 2010), vigorously intense activity were found to be less
and development of strong muscles (Katz et al., anxious and reported higher perceptions of self-
2010) and bone (McKay, Liu, Egeli, Boyd, & worth than children with high levels of light
Burrows, 2010; Nikander et al., 2010). Physical activity but low vigorous activity. Despite these
activity is especially important for children with recommendations, the Healthy People 2010
developmental disabilities, in whom the risks of mid-course review (2006) indicated that only
inactivity are increased. In 2010, the Centers for 64% of adolescents have regular physical activ-
Disease Control and Prevention (CDC) recom- ity and only 8% of middle and high schools’
mended that children should engage in 60 min- curricula require students to engage in daily
utes of moderate to vigorous physical activity per physical activity (CDC and President’s Coun-
day, including muscle- and bone-strengthening cil on Physical Fitness and Sports, 2006). This
exercises 3 times per week. Not only is physical data suggests greater opportunity is needed
activity necessary for health of the body, but it for participation in physical activity, as well as
613
614 Bainbridge and Gleason
improved understanding of strategies that are participation in sports activities without specific
effective in increasing children’s physical activ- limitations. She also told the family that this
ity (Baruth et al., 2010). Recent reports indicate activity could be helpful to Jamie in a number
that the number of minutes per day children of ways. It could aid in weight control, which is
spend in moderate to vigorous physical activ- often an issue for people with Down syndrome.
ity decreases significantly from 180 minutes at It could also support Jamie’s emerging social
age 9 to less than 50 minutes by age 15 (Nader,
skills and self-esteem. The pediatrician, how-
Bradley, Houts, McRitchie, & O’Brien, 2008).
ever, counseled the family about certain inju-
This problem of inadequate physical activity is
accentuated in children with developmental dis- ries that Jamie was at higher risk to sustain as
abilities. A recent report by the American Acad- a result of his generalized ligamentous laxity.
emy of Pediatrics’ (AAP) Council on Children To avoid these, she suggested that he perform
with Disabilities (COCWD) encourages physi- particular warm-up exercises and avoid certain
cians to 1) counsel children and families on the sustained activities that would predispose him
importance of physical activity; 2) encourage to injury. She also recommended a generalized
schools to include interventions that enhance strengthening program, explaining that stron-
motor skill development and provide instruc- ger muscles help to stabilize and protect joints
tion geared toward the individual skills and from injury.
needs of the child; 3) encourage communities
to develop safe and accessible environments for
outdoor activities, including playgrounds and HEALTH RISKS OF CHILDREN
parks; and 4) support walking and biking to WITH DISABILITIES RELATED TO
school (Keeton & Kennedy, 2009). A LACK OF PHYSICAL ACTIVITY
■ ■ ■ JAMIE Special concerns related to exercise and physi-
Jamie is a 14-year-old boy with Down syndrome
cal activity exist for children and youth with
developmental and related disabilities. Some of
who is interested in playing on a Special Olym-
these concerns relate to community access and
pics basketball team. He became interested in barriers that hamper including children with
the Special Olympics because one of his class- disabilities, and some relate to specific needs
mates plays in a local league. In preparation for of individual children. Participation of children
his participation, Jamie visited his pediatrician, with disabilities in routine physical activity may
who noted that Jamie has not had many of the be less than what is reported in typically devel-
medical complications associated with Down oping children and youth (Emck, Bosscher,
syndrome. Jamie’s pediatrician first asked about Wieringen, Doreleijers, & Beek, 2010; Frey,
symptoms suggestive of atlantoaxial sublux- Stanish, & Temple, 2009; Maher, Williams,
ation (see Chapter 18), including neck pain, stiff Olds, & Lane, 2007; Pan, 2008; Schott, Alof,
neck, torticollis (wry neck, a condition in which
Hultsch, & Meerman, 2007). In addition, com-
pared to children with typical development,
contracted or spastic neck muscles cause the
children with disabilities are at greater risk
head lean or twist to one side), progressive loss for adverse health consequences including the
of bowel or bladder control, change in strength potential for secondary conditions and loss of
or sensation in any of his limbs, or change in gait functional skills as they grow older due to lack of
pattern. Jamie’s mother reported that Jamie physical activity. Levels of obesity in 2010 were
had not had any of these symptoms. The pedia- reported at 17% in children ages 2–19 years of
trician then examined Jamie and concluded age (CDC, 2010) with potentially higher risk
that he was mildly overweight and had mild to for overweight in children with physical dis-
moderate ligamentous laxity (hyperflexible, flat abilities (50.9% versus 30.6%) and learning dis-
feet) but had no neurologic signs or symptoms orders (35.1% versus 31.1%) when compared
suggestive of atlantoaxial subluxation.
to children without disability (Bandini, Curtin,
Hamad, Tybor, & Must, 2005). In a national
After discussing the findings with Jamie’s
study of youth in Grades 9–12 just 35% of chil-
family, the pediatrician decided to obtain spe-
dren with disabilities reported meeting current
cial cervical spine (neck) x rays to screen for physical activity recommendations according to
atlantoaxial subluxation; these were found to self-report using the CDC data set of the Youth
be normal. As a result of the examination, the Risk Behavior Survey (Everett Jones & Lol-
pediatrician signed the form permitting Jamie’s lar, 2008). Maher et al. (2007) found children
Physical Activity, Exercise, and Sports 615
with cerebral palsy had less physical activity and Disability (NCPAD; http://www.ncpad.org/)
than typical peers, their activity level declined can assist children with special needs, their
with age, and children with greater functional parents, caregivers, and health professionals in
limitations on the Gross Motor Function Clas- understanding disability-specific needs, options,
sification System (GMFCS) engaged in less and resources and can facilitate greater participa-
physical activity. Shields, Dodd, and Abblitt tion of children with disabilities in community
(2009) found a similar pattern of declining activities, sports and recreation.
physical activity with increasing age in children
with Down syndrome, with 8 of 19 children
achieving 60 minutes per day of moderate to CONSIDERATIONS
vigorous physical activity. FOR SPECIFIC DISABILITIES
Children with disabilities encounter many
Recent research that has focused on children
potential barriers to physical activity including
with specific developmental conditions related
less opportunity for in- and after-school exer-
to exercise and activity participation provides
cise, inaccessible facilities and playgrounds,
important insight into their intervention needs
attitudinal barriers of coaches, physical edu-
and strategies. The following examples are not
cation instructors and teachers, and in many
exhaustive but include studies on children with
sports and competitive activities, an emphasis
autism spectrum disorders (ASD), Down syn-
on winning rather than participation (Rimmer
drome, intellectual disability and cerebral palsy
& Rowland, 2008). Parents of youth with dis-
as a basis for principles that might apply to other
abilities may be reluctant to encourage their
developmental conditions or disabilities. For
child’s participation in activities where there
additional information the National Center on
is potential for physical harm or verbal abuse.
Physical Activity and Disability (NCPAD) web
Additionally, concern is warranted in relation to
site provides excellent resources and informa-
children with intellectual disability (ID) regard-
tion. As a general principle, the needs of chil-
ing lack of knowledge of the importance of
dren with disabilities are not unlike any other
physical activity and its contribution to health,
child; they need opportunities to participate, to
and lack of understanding of long-term health
be active and to exercise, as well as the benefits
consequences (Rimmer, Rowland, & Yamaki,
these bestow in terms of physical health and psy-
2007). Many communities do not offer ade-
chological well-being.
quate opportunities for children with disabilities
to participate in physical activity on a regular
basis. At the same time, parents of children Autism
with disabilities are seeking out and identifying Children with autism spectrum disorders (ASD)
appropriate and interesting activities for their have been described as having a range of move-
child in the hopes of finding fun and engag- ment difficulties including, among others, low
ing activities that encourage movement. An scores on tests of motor skill and coordination
array of options that promote physical activity (Green et al., 2009), unevenness of develop-
and movement within each child’s capabilities mental milestone acquisition (Baranek, 2002),
and interests must be explored. Incorporating atypical features of motor function including
behavioral techniques into program planning low muscle tone, oral-motor difficulties, repeti-
and intervention, and family-based strategies to tive movement and dyspraxia (Klim, Volkman,
promote healthy life styles and physical activity, & Sparrow, 1992), and motor planning diffi-
may be crucial to achieving effective behavioral culties and dyspraxia (Baranek, 2002; Rinehart
change in children, particularly children with et al., 2001). These studies suggest that while
intellectual disability (Fleming et al., 2008). children with ASD are at significant risk for
Parents must observe carefully when start- motor impairments, the type and severity of
ing any new physical activity to ensure that staff motor difficulty varies from child to child with
and facilities provide appropriate programs for no consistent pattern across the population;
their child’s individual needs. Parents must con- indeed some children with ASD are found to
sider many factors: the needs, desires and enjoy- have good motor abilities (Pan, Tsai, & Chu,
ment of the individual child; the experience, 2009). Pan (2007) measured recess time activity
training and expertise of staff and volunteers; in children with ASD in Taiwan using acceler-
supervision of these providers, and the degree to ometry, an instrument that uses motion sens-
which there may be established protocols, inter- ing to record movement, and noted that these
ventions strategies, or curricula. Organizations children did not achieve a target of 40% of
such as the National Center on Physical Activity school recess time in physical activity. Pan and
Frey (2006) found that youth with ASD are less In another study, Fragala-Pinkham, Haley and
active than their peers without ASD and that O’Neil (2008) reported about an aquatic program
activity level of children with ASD declines that emphasized aerobic and strength training for
with increasing age. Interventions to improve ambulatory children with a range of disabilities
strength and aerobic fitness in children with (ASD, myelomingocele, cerebral palsy, Down
ASD have demonstrated attainable improve- syndrome and developmental delay), and found
ments (Lochbaum & Crews, 2003; Pitetti, improvements in cardiorespiratory endurance on
Rendoff, Grover, & Beets, 2007) in strength, a half-mile run/walk test. Many of these programs
aerobic fitness, several parameters of treadmill identify not only improvements in the target mea-
walking including speed, elevation, frequency sures of strength or aerobic conditioning, but sug-
of use, and body mass index (BMI; Pitetti et al., gest improvements in functional skills, vocational
2007; see Chapter 8). Some medications used performance, and athletic performance (Tamse
to treat behavioral symptoms in children with et al., 2010). Exercise interventions indicate that
ASD have been found to contribute to weight adults and adolescents with Down syndrome have
gain and movement difficulty (McPheeters et the capacity to improve muscle strength and speed
al., 2011); additional research on the role of of climbing stairs as a result of resistance training
physical activity in helping to manage these (Crowley et al., 2011), and significantly improve
complications is needed (Hellings et al., 2001). cardiovascular fitness (Dodd & Shield, 2005).
Programming for persons with ASDs has Mondonca et al. (2010) have extensively evalu-
also identified that moderate and vigorous levels ated the exercise capacity in adults with Down
of physical activity can be beneficial in reducing syndrome, pointing out that no studies exist that
undesirable behavior. Elliot, Dobbin, Rose, and include adequate follow-up to evaluate the long-
Soper (1994) studied vigorous aerobic exercise term impact of exercise in this population. They
engaged in prior to a community-based voca- strongly encourage physical activity and exercise
tional task and found that compared to gen- programs early in life for children with Down
eral motor training activities, maladaptive and syndrome in in order to improve the potential
stereotypic behaviors (during the vocational for better health and physical capacity through-
task) were reduced in 6 adults with ASD and out life. These authors have identified specific
ID when they participated in vigorous activity concerns related to the exercise capacity of people
prior to vocational tasks. In addition, a study by with Down syndrome including chronotropic
Fragala-Pinkham et al. (2005) of children with incompetence, or inability of the heart to increase
a range of disability including ASD found that rate appropriately in response to increased activ-
a group program was much more effective than ity or metabolism, and low strength, which affects
individualized home programs in achieving fit- their ability to achieve and sustain vigorous activ-
ness goals and consistent participation. Stud- ity and points to the need for continued atten-
ies of physical activity programming indicate tion to evaluating and understanding the exercise
that with appropriate training and supervision needs and the impact of strength and condition-
of staff, participation by children with ASD in ing on children with Down syndrome and other
physical activity can increase and have a positive disabilities (Mondonca et al., 2010).
impact on their health and well-being (Todd &
Reid, 2006). Strategies such as visual displays Children with
for self-monitoring, daily activity logs, social Special Health Care Needs
stories, social reinforcement and other behav-
In addition to children with identified or known
ioral reinforcement are all useful in encourag-
developmental disabilities, other children who
ing and sustaining participation.
at some point can be identified as children with
special health care needs (CSHCN) may be at
Down Syndrome and risk for decreased participation in physical activ-
Intellectual Disabilities ity. For example, a recent study (Burns et al.,
Children with ID can also benefit from exercise 2008) found that children weighing less than
and physical activity. In one study, adolescents 1,000 grams at birth, termed extremely low birth
with ID 16–22 years of age (members of Spe- weight (ELBW; see Chapter 7), were found to
cial Olympics) who participated in a structured have significant motor coordination difficulties
strengthening program for 3 months, twice per (on the Movement Assessment Battery for Chil-
week demonstrated improvements in the force dren—MABC) at 11–13 years of age. Roberts
generated by one repetition in several muscle et al. (2010) found that 16% of children in their
groups (Machek et al., 2008; Tamse et al., 2010). sample of 132 children with a history of extreme
prematurity or extremely low birth weight were therapist, or other health professional to decide
identified as having developmental coordina- which physical activities or programs are best
tion disorder, including poor coordination and for their children. Some activities may be physi-
clumsiness, at 8 years of age. Similarly, Emck cally demanding, stressful, or demand particular
et al. (2010) found that a significant number of expertise, behavioral support, or specific coach-
children with psychiatric disorders including ing skills. Some may need to be monitored or
emotional, behavioral, and pervasive develop- provided by licensed or certified practitioners
mental disorders also had motor impairments or health professionals. As the exertion level,
and poorer neuromotor and aerobic fitness than competition, or challenge increases, the league
their peers. In this context the findings of Wrot- or sponsoring organization may require physical
niak et al. (2006) are useful, in that they identified examinations.
a clear relationship between motor proficiency Soccer, basketball, baseball, and other
and participation in physical activity or sedentary youth sports may include children with disabili-
behaviors in a study of 10- to 13-year-old chil- ties when possible, and properly trained coaches
dren (without disabilities). Children who rated can facilitate meaningful inclusion. Children
in the 75th percentile on the Bruninks-Oseretski with relatively minor impairments and good
Test of Motor Proficiency, First Edition, had physical abilities can continue competing in
significantly higher levels of physical activity such programs into high school. Although it is
and a higher percentage of time in moderate to uncommon, some children with disabilities may
vigorous physical activity than all other children be able to participate in varsity level sports, and
(Wrotniak et al., 2006). Attention to improving examples are becoming more frequent of chil-
motor skill and proficiency in children at risk for dren with autism on basketball teams and chil-
even mild motor impairments may have signifi- dren with Down syndrome on swimming teams
cant implications in health-promoting physical (among others).
activity in childhood and beyond. Specialized sports associations and pro-
Palisano et al. (2010) have identified a range grams provide meaningful physical activity,
of factors that impact the ability of a child with competitive participation, and social recre-
cerebral palsy to participate in recreation and ation. Special Olympics and the International
leisure time activities. These factors include the Sports Federation for Persons with Intellec-
child’s preferences, other family members’ inter- tual Disability (INAS-FID) promote sports
est and participation levels, and family cohesion and competition for those with intellectual
and relationships; they all impact the types of and developmental disability, while Paralym-
activities a child participates in. Rimmer and pics, Disabled USA, and Blaze Sports provide
Rowland (2008) provide important guidance for sports programs for anyone with a physical
understanding the lack of participation of youth disability. The President’s Council on Fitness,
with disability in physical activity, recreation Sports, & Nutrition has a Presidential Active
and sport, and provide an important concep- Lifestyle Award (PALA) for people with disabil-
tual framework described as the Pep-for-Youth ity. Other programs with local programming
physical activity intervention model. This model include Little League Baseball’s Challenger
assists families and service providers with under- Division, Wheelchair Sports, USA, TOPSoc-
standing individual preferences and desires that cer, STRIDE, YMCA, and National Disability
are relevant to participating in activities and Sports Alliance. Additional resources can be
evaluating individual needs, opportunities for, found on the Educated Sports Parent (http://
and barriers to, community-based participation. www.educatedsportsparent.com).
Key concepts in this approach are a clear under- It is important to recognize that youth with
standing of the individual child’s interests and disabilities may not be as active as their peers
experiences, careful assessment of community without disabilities. Programs need to encour-
resources, setting realistic goals, offering routine age participation of children with disabilities at
support guidance to reassess where necessary, all levels. Unfortunately, even when commu-
and offering positive reinforcement for the suc- nity resources exist to support youth with dis-
cesses achieved. abilities, most staff are lacking in the expertise,
facilities, equipment and supervision required
to realize a goal of universal access, particularly
COMMUNITY PROGRAMS
for children with more significant disability or
Community sports programs help many children behavioral difficulties. Recent research indi-
develop sports skills and enthusiasm, as well as cates that youth with disabilities can benefit
improve health. Parents may consult a physician, tremendously from increased participation in
such activities and that lifelong health can be only five states required PE in every grade
improved, but many barriers continue to exist. K–12, with only one state aligning with
national recommendations for physical activ-
Sample Program Models ity time (National Association for Sport and
Two types of programs, initially designed for chil- Physical Education, 2010). As a consequence
dren with disabilities, serve as models of enjoy- of increased awareness regarding high rates of
able recreation with potential health benefits and overweight and obesity in all children, many
therapeutic impact. As previously mentioned, communities have advocated for increased
Special Olympics, a program for children, youth access to PE. In this context parents, teach-
and adults with intellectual and physical disabili- ers and advocates need to understand state
ties, provides sports activities and competitions education requirements for PE and whether
worldwide with over 3 million participants (Spe- the IEP for a child with a disability needs to
cial Olympics, 2010). It offers coaches’ train- contain specific recommendations related to
ing, sport-specific instruction manuals, weekly PE, physical activity, and exercise. The web
practices and seasonal competitions. Special site of the National Association for Sport and
Olympics uses a “divisioning” system to ensure Physical Education (http://www.aahperd.org/
that athletes and teams compete against others naspe/standards/stateStandards/) provides
with similar abilities. In another venue, Unified links to current state standards. Individual
Sports, typically developing youth of similar age schools and local education agencies (LEAs)
compete on a team with Special Olympics ath- may provide PE as part of a routine education
letes. Competitions are organized at every level: curriculum on a weekly basis. In terms of an
local, state, regional, national, and even interindividual child’s need, parents need to under-
national. Additionally, Special Olympics offers stand the PE program’s contents, and their
health screenings and health promotion advice duration and frequency in the child’s sched-
at many events. ule, to evaluate whether the school provides
For many years, horseback riding cen- enough physical activity. Parents also need
ters have developed expertise in providing to evaluate what after-school and weekend
horseback riding therapy, therapeutic riding, activities need to be planned so the child may
or hippotherapy (Sterba, 2007; Sterba, Rog- achieve recommended levels of physical activ-
ers, France, & Vokes, 2002). Children with ity for fitness and strength development. Even
a broad range of disabilities, including sig- if PE is a regular part of the school curricu-
nificant multiple impairments, can participate lum, the frequency, duration and consistency
(Murphy, Kahn-D’Angelo, & Gleason, 2005). of PE throughout the school year may vary
These programs can provide integrated activi- according to how the school system sched-
ties or programs to address specific develop- ules courses and content delivery, especially
mental, therapeutic, and functional skills of at the high school level. For example, block
these children. National organizations have scheduling approaches may provide significant
emerged to promote dissemination of informa- amounts of access to PE during some months
tion and intervention strategies, and education or quarters of the school year and minimal PE
and certification programs for instructors and during other periods.
therapists (NAHRA; American Hippotherapy Where necessary parents should con-
Association, 2010). Research evaluating the sider including specific objectives in the
impact of these interventions on function has child’s IEP that provide access to PE, adapted
been modest, but physicians, therapists, and PE, or physical therapy or other related ser-
parents advocate for the importance of riding vices offering consistent opportunity to be
therapies for recreational reasons at minimum physically active, and also to learn necessary
(Dirienza, Dirienzo, & Baceski, 2007; Dunst,& life skills. In addition to strength and fitness
Rolandelli, 2003; Sterba, 2007). goals, some individuals may benefit from the
inclusion of exercise or moderate to vigorous
activity as part of the IEP in order to enhance
POLICIES AFFECTING behavioral interventions. Both IEP planning
PARTICIPATION IN and Section 504 plans (see Chapter 31) can be
PHYSICAL ACTIVITY used to ensure necessary levels of access and
the child’s inclusion into the appropriate type
School-based physical education (PE) require- of class or programming.
ments vary from state to state (http://www. Transition planning beginning at age 16
ncsl.org/default.aspx?tabid=14027). In 2010, should also emphasize the range of life skills
that need to be learned in preparation for adult- therapists and other health consultants are
hood and independent living, including health- available to provide guidance, instruction and
and wellness-related objectives that help youth accommodation (Heller, Marks, & Ailey, 2001).
understand the importance of physical activity,
what types of activities they enjoy, and what
skills are needed in order to ensure that physi-
CHOICE AND
cal activity will become a routine part of their PREPARATION FOR PHYSICAL
adult life (see Chapter 40 for further details on ACTIVITY, EXERCISE, OR SPORTS
transition planning).
Most physical activity is experienced, cho-
Research shows that levels of physical
sen, and repeated by the child based on his or
activity decline as individuals with disabilities
her interests and desires. However, families
age. In recent interviews of adults living with
can facilitate exposure to additional activities
cerebral palsy, participants noted a noticeable
after consulting health professionals or other
decline in physical ability with increasing age
families who have children with disabilities.
in their 30s and 40s; related to this decline were
Physicians performing pre-participation exami-
symptoms of fatigue, pain, decline in ability
nations (PPE) examinations can assist in sug-
to work a full work day, and loss of flexibility,
gesting suitable sports. Several questions can
strength and balance (Horsman et al., 2010). A
help frame the relevant issues when choosing
key recommendation resulting from this and
physical activity:
related research is that children and adolescents
need to develop a clear understanding of their • What are the child’s interests?
condition or disability, plus the potential course • What activities are readily available to the fam-
of their condition over their lifetime. They also ily? This question includes proximity, cost,
need to have access to key information on how coaches/support personnel, and access.
to plan for adulthood and prevent loss of func- • What activities could the child be most successful
tion or adverse health consequences through- in? For example, children with spastic cere-
out life. Children with disabilities need this bral palsy may succeed in horseback riding,
awareness prior to leaving school and fostering wheelchair racing, or field events. Like-
such awareness should be part of the transition wise, children with spina bifida might excel
planning process beginning at age 16 or earlier. in swimming, track-and-field, or archery.
Both within the school, and when consid- A wide continuum of physical activity and
ering access to community-based recreation sport options combined with proper evalu-
and fitness opportunities, the Americans with ation and response monitoring will be the
Disabilities Act (ADA; Title II) of 1990 with most appropriate approach for assuring
2008 amendments (PL 110-325) and the Archi- ongoing and successful participation.
tectural Barriers Act of 1968 (90-480, 82 Stat.
718) are important laws to be aware of. All Key components of an exercise program
new construction must comply with these laws, (for all children) should include warm-up
providing physical access and accommodation activities, aerobic activities, balance activities,
for people with disabilities. When evaluating strength training, and cool-down activities.
the potential barriers, certainly physical access The warm-up and cool-down activities can be
to the facility is necessary, but the programs, 5–10 minutes each with the majority of exer-
instructors, equipment, and interior facil- cise/activity time spent on aerobic, balance, and
ity areas where desired activities must be held strength-training, activities. For many people
barrier-free. For example, some equipment or just beginning a program, exercise duration
classes may be located in an area lacking ramped can be fairly short, with successful participation
or elevator access; or equipment such as weight being the initial goal. With consistent participa-
machines may not be useable by an individual tion, the duration and intensity of exercise can
in a wheelchair. Several equipment manufac- be increased based on individual response and
turers now produce exercise equipment that need. A total exercise period including warm-
is more accessible and safer for use by people up and cool-down is usually 60–75 minutes.
with disabilities including swivel seats for easier
transfer, covered weight stacks to prevent fin- Pre-participation Examinations
ger or other injuries, and other modifications. Medical examination prior to sport or exercise
Exercise trainers and health facility staff can participation is designed to ensure safety and
be an important resource for learning specific manage injury risk. PPEs are typically man-
exercise routines, and in many places physical dated to meet legal or insurance requirements in
junior high or high school. Currently, 49 of 50 cause risk, 2) identify medical contraindications
states and the District of Columbia require some to participation, 3) assess physical maturity and
form of physical evaluation before high school readiness, 4) identify safe sports, and 5) educate
sport participation (Saglimbeni, 2010). Physical the child and family about risks and benefits of
exams for younger children and preadolescents, participation in PA.
while not mandatory, should be encouraged to The Preparticipation Physical Evaluation
promote engagement in physical activity; assess (PPE), Fourth Edition (Bernhardt & Roberts,
developmental and medical suitability to partici- 2010) is the definitive guide for implement-
pate; and match physical, social, and cognitive ing PPE and expands evaluation to athletes
maturity with appropriate activities (Kurowski & with special needs. It includes a medical his-
Chandran, 2000; Lyznicki, Nielsen, & Schnei- tory, physical examination, and clearance form.
der, 2000; Maron et al., 2007). In addition to screening for potentially cata-
Although frequency of PPE is debated, the strophic conditions, the PPE, Fourth Edition
American Medical Association Guidelines for also screens for conditions that predispose to
Adolescent Preventive Services recommends injury or illness. Areas that require attention
evaluation at least every other year during ado- for all participants include exercise-induced
lescence. The American Academy of Pediatrics syncope or asthma; family history of heart dis-
(AAP) recommends that adolescents involved ease or sudden death; personal history of heart
in strenuous activity have an examination prior symptoms, loss of consciousness, concussion,
to entering high school, followed by a lim- neurological problems; heat stroke or hypo-
ited annual reevaluation (Saglimbeni, 2010). thermia, musculoskeletal dysfunction; allergies,
Desired outcomes of a PPE are to 1) define surgery, or hospitalization; and absence or loss
general health status and detect conditions that of a paired organ (see Table 34.1).
Table 34.1. Components of the Preparticipation Examination (Bernhardt & Roberts, 2010)
Variable assessed Normative values Source Cautions
Height and weight Standard growth charts Centers for Disease
Control and Pre-
vention
Blood pressure Gender and Ht National Heart, Lung BP > 95% requires further evaluation
percentiles and Blood Institute before clearance
Heart sounds Normal rhythm and Stethoscope Assess any murmur in supine and
rate standing; further evaluation
needed if change in murmur
Organs Assess tenderness and Auscultation Note any missing organs with cau-
size tions for participation in certain
sports
Vision — Snelling Charts or Vision should be correctable to
Lea Chart for those 20/40; note pupil inequality in size
with intellectual or reactivity for baseline
disability
Skin Visual and sensation — Defer participation if communicable
exam skin disease
Musculoskeletal
Posture — Visual assessment —
Spinal symmetry — Visual assessment —
Leg lengths — Tape measure —
Gait Walk and run Visual assessment —
Joint mobility Standards range of Goniometry Caution with instability in Down
motion syndrome
Consider ROM requirements of sport
Muscle strength Grade 5/5 Manual muscle Note weakness or muscle atrophy
testing
Muscle tone Normal, hypo-, or — May restrict certain sports like
hypertonic archery
Balance — Berg Balance Test May limit certain sports like skiing
Equipment Fit, function, safety — Equipment must conform to the
sport and the sport regulations
As children with special needs may be at risk Training Errors

for additional injury or illness secondary to their Sudden transitions from unregulated play to
disability, the Supplemental History for the Athlete increased hours of participation can increase
with Special Needs further defines the nature of the incidence of overuse. Repetitive demands
the disability, assistive devices used for it, history of activity or sport may result in muscle or
of autonomic dysreflexia, seizures or urinary tendon imbalances unless the child is on a
tract infections, and specific disability-related well-designed training plan. For example, a
impairments. In addition, the physician may swimmer might develop shoulder problems
assist with functional classification of the athlete from a loose anterior and tight posterior joint
based on physical ability and type or severity of capsule (Chen et al., 2005). Repetitive running
impairment. The physician must be aware of increases strength only in the anterior thigh
national and international classification systems muscles, so increasing stride length could stress
for competition such as those developed by the the weaker posterior muscles.
International Paralympics Committee.
The PPE’s outcome will determine clear- Developmental Conditions
ance level for participation, defined as Poor posture and joint limitation or deformity,
• Unrestricted for any sport frequent issues in children with disability, can
• Unrestricted with recommendation for fur- cause injury if the body cannot compensate
ther evaluation or treatment under sport-caused demands. Increased curva-
ture of the lower spine or excess extension of
• Not cleared pending further evaluation for the knee can cause abnormal joint loading and
any sports, or for certain sports pain. Flat feet can increase stress on the inside
If the physician’s recommendation is “no of the knee, and cause the body weight to land
clearance for certain sports,” the physician must on a flexible instead of rigid foot.
specify which sports are prohibited and why. The major cause of overuse injury in chil-
The AAP Committee on Sports Medicine and dren is growth. Bones grow primarily in length
Fitness wrote a policy statement, “Medical Con- with secondary lengthening of soft tissues. Dur-
ditions and Sports Participation” (2001), with ing periods of rapid bone growth, or “spurts,”
an excellent sports classification system (contact the muscle and tendon structures tighten and
or physical touching, collision or violent, direct lose flexibility. Recent studies have documented
impact, limited contact, or noncontact) that is an increase in overuse injuries during such
used in defining sports recommendations. The spurts (Soprano, 2005). Also, as bone matures,
committee also developed participation recom- it stiffens and loses resistance to impact. Sudden
mendations for children with various medical overload may cause the bone to bow or buckle.
conditions to assist physicians in decision mak- The growth area in long bones is most suscep-
ing (Rice, 2008). tible to shear or fracture, potentially impacting
bone growth. Likewise, growing cartilage offers
low resistance to repetitive loading, resulting in
INJURY RISK IN CHILDREN
microtrauma to the cartilage or the underly-
Three questions arise when discussing risks for ing growth plate. Damage may result in growth
injury in children with disabilities. asymmetry or osteoarthritis (Caine, DiFiori,
• What are the major reasons for injury risk to & Maffulli, 2006).
children with disabilities?
Injuries in Children with Disabilities
• What injuries are specific to children with
Minimal information exists on incidence and
disabilities?
type of activity-related injuries in individuals
• Do children with disabilities receive similar with disabilities. Studies use small sample sizes
injuries as other children? and select groups of individuals with specific
Although injuries such as fractures can disabilities.
result from a single trauma, repetitive micro- Several studies indicate a lower injury rate
trauma (or overuse) causes many injuries in chil- in students with disability. A study was con-
dren (Adirim & Cheng, 2003; Bainbridge, 2006; ducted of 210 athletes (including children with
Oeppen & Jaramillo, 2003). Several factors pre- ID, emotional disturbance, learning disability,
dispose to overuse injury (Cassas & Cassettari- multiple disability [including traumatic brain
Wayhs, 2006; Hogan & Gross, 2003). injury], and autism) in 8 special education high
schools that participate in interscholastic sports to NCPAD, American College of Sports Medi-
(basketball, softball, soccer, and field hockey). cine, Field, & Oates, 2001):
The study’s results noted 38 injuries among 512 • Monitoring heart rate and blood pressure
athletes, a rate of 2.0 per 1000 athlete exposures before and during participation for any sud-
(Ramirez et al., 2009). Soccer had the highest den or significant changes; avoiding any
rate of injury (3.7 per 1000). Youth with ASD, breath-holding during exercise
although few in number, had the highest injury
• Padding any adaptive equipment or wheel-
risk, five times that of athletes with other dis-
chairs to reduce pressure
abilities. Those with histories of seizures had
injury rates >2.5 times the rate of those with no • Checking skin below the level of the injury
seizure history. Injuries to athletes with special for irritation
needs were less severe, required less time away • Utilizing adaptive equipment such as cuffs,
from the sport, and resulted in less missed school gloves, or Velcro straps to assist with grip
days than typically developing peers. They also • Using wide benches and low seats for easier
had fewer sprains and strains, and no fractures transfers
or concussions.
Other studies indicate higher injury rates in • Considering the need to stabilize the trunk
children with disability; the authors posit that and pelvis with strapping
a compromised ability to perceive and manage • Using machines for strengthening instead
environmental hazards may increase risk for of free weights
injury. Ramirez, Peek-Asa, and Kraus (2004) • Forbidding breath-holding during exer-
studied 697 reported injuries in 6,769 school cise—encouraging slow breathing
children with disability, and documented an
injury rate of 4.7/100 students per year. Children
with multiple disabilities had a 70% increased Cerebral Palsy
odds of injury compared with those with intel- Abnormal muscle tone or inadequate muscle
lectual (1.7) or physical disability (1.4). Xiang, control in children with cerebral palsy may
Stallones, Chen, Hostetler, and Kelleher (2005) increase risk for ligament sprains and muscle
noted injury rates of 4.2% vision disability, 3.2% strain. Contractures place stress on affected
mental retardation, 4.5% attention-deficit/ joints, and increased muscle tone that is exac-
hyperactivity disorder, and 5.7% asthma versus erbated by exercise. Appropriate padding and
2.5% for typically developing children. Raman, fitting of adaptive equipment (e.g., braces,
Boyce, and Pickett (2007) also documented wheelchairs) is essential. Strategies for safe par-
increased risk in children with disabilities com- ticipation (NCPAD) include:
pared to those without disability (67% versus • Padding any adaptive equipment or wheel-
51%) for single, multiple, or serious injuries. chairs to reduce pressure
• Utilizing adaptive equipment such as non-
Disorder-Specific Injuries
slip handgrips, cuffs, gloves, and Velcro
and Strategies for Prevention straps to assist with grip
Children with disabilities and related physical • Using wide benches and low seats for easier
impairments have greater risk for specific inju- transfers
ries and may need modifications to training and
participation for safety and success. • Performing slow, controlled movements;
using a metronome to set a pace
Spinal Cord Injury and Spina Bifida • Avoiding exercises that increase tone
A child with spinal cord injury or spina bifida • Strengthening muscle group opposed to
may not perceive pain below their injury level, spastic muscle to induce relaxation
and may be at risk for soft-tissue damage from • Slowly stretching spastic muscles; not using
contusions or pressure. Athletes with spinal bouncing stretches
cord lesions at or above the sixth thoracic ver-
• Using seated exercises if standing balance is
tebra (T6) may have problems with autonomic
unsteady
dysreflexia, resulting in poor thermoregulation
and altered blood pressure control (Klenk &
Gebke, 2007). Trunk balance and stability may Muscular Dystrophy
be compromised by lack of muscles. Strate- This progressive disorder results from damage
gies for safe participation include (according to the nerves at an individual rate with episodes
of exacerbation and remittance. Maintaining • Familiarizing child with environment and

muscle strength slows the functional decline, exercise protocol
but the child can be easily fatigued. Strategies • Demonstrating, then practicing all exercises
for safe participation (NCPAD, American Col- one at a time
lege of Sports Medicine) include
• Providing simple, short instructions and
• Maintaining proper hydration feedback; using pictures and large font
• Emptying bladder prior to exercise • Providing frequent reminders of good form
• Utilizing adaptive equipment such as non- and technique
slip handgrips, cuffs, gloves, and Velcro • Checking for correct socks (wicking fabric
straps to assist with grip as those with ID tend to produce more foot
• Using wide benches and low seats for easier perspiration)
transfers • Controlling the seizure disorder for water
• Performing slow, controlled movements; sports, or sports involving heights; compli-
stopping when fatigued ance with medications should be stressed
• Using seated exercises if standing balance is • In children with cardiac problems, stop-
unsteady ping exercise if they have extreme or sudden
• Demonstrating exercises near child as vision shortness of breath, leg cramps, or abnor-
may be impaired or blurred mal fatigue
Down Syndrome Children with Impairments

and Intellectual Disability in Vision or Hearing
Individuals with Down syndrome have specific Impairments in vision or hearing can have many
physical concerns associated with their dis- causes, but with children with partial or com-
ability. A 10%–20% incidence of atlanto-axial plete loss of vision or hearing can still actively
instability (AAI) necessitates screening prior participate in exercise and sports with modifica-
to participation in activities that put the neck tion for their physical limitation.
at risk (e.g., gymnastics, contact sports, div- Children who are visually impaired or
ing). If a child is found to have AAI by x ray, blind often exhibit lower levels of fitness than
an examination should determine if the AAI is sighted peers (Houwen, Hartman, & Visscher,
symptomatic. Research has demonstrated that 2010; Lieberman & McHugh, 2001). Physi-
only 1%–2% are symptomatic, demonstrating cal activity levels of children who are visually
compression of the spinal cord (Ali, Al-Bustan, impaired and blind can be improved, better-
Al-Busairi, Al-Mulla, & Esbaita, 2006). If so, ing their economy of movement (Lieberman,
further consultation is necessary prior to clear- Butcher, & Moak, 2001).
ance for sport (Ali et al., 2006; Down syndrome Those who are hard of hearing typically
Health Issues online, 2011; Tassone & Duey- rely on hearing aids and other assistive listening
Holtz, 2008). Children with Down syndrome devices to maximize residual hearing. Individu-
also have a higher incidence of orthopedic als who are deaf use modalities ranging from
conditions including pronated feet, which may verbal communication to manual sign language.
become painful with increased physical activ- In some cases, the use of interpreters may be
ity. Cardiac problems are prevalent in many required to aid in communication. Strategies
types of ID. Fetal alcohol, Down, fragile X, and for safe participation (NCPAD; American Col-
Williams syndromes are highly associated with lege of Sports Medicine) include
heart or aorta defects. Experts believe the occur- • Always facing the child so that he or she sees
rence rate for the cardiac defect that underlies supervisor’s face, lips, eyes, and body
sudden cardiac death syndrome is 10–20 times
• Maintaining eye contact and speaking
more prevalent in the ID population (Jewell,
directly to the person, not to the interpreter
2011; Khan, 2009; Vaux, 2010; Vis et al., 2009).
Those with ID are also more likely to be taking • Demonstrating in person or by video exactly
medications that cause abnormal heart rhythms. what is required from beginning to end
Seizure disorders occur in about 36% of people • Using visual and tactile cues, facial expres-
with ID (McBrien & Macken, 2009). Strategies sions, body language, gestures, and common
for safe participation (NCPAD; American Col- signs, such as thumbs-up or thumbs-down
lege of Sports Medicine) include to communicate meaning
• Using normal enunciation and loudness to many causes including medications, lack of
• If an individual’s speech is unclear or diffi- physical movement, and diet (Plotkin & Sueiro,
cult to understand, the listener not pretend- 2007; Skrinth, Cassidy, Joiner, et al., 2010).
ing at comprehension, but rather asking for Osteoporosis is common in the lower extremi-
clarification ties of children in wheelchairs and can lead to
increased risk of fractures, even in situations
• Avoiding loud, constant background noise
where similar force might not affect ambula-
that may cause headaches or reduce effec-
tory children (Wilson, 2005). Further evalua-
tiveness of hearing aids
tion and management might be warranted if a
• Orienting the child to all aspects of the child is taking medications that might induce
environment with special attention to emer- bone loss or has a disability with a predilection
gency aspects (exits and fire evacuation pro- for low bone density (Apkon, Fenton, & Coll,
cedures) 2009; Kilpinen-Loisa et al., 2010). Strategies
• Equipping facilities with strobe or visual for safe participation (National Osteoporosis
fire alarms or other alerting devices (buddy Foundation) include
or tapping system, very loud sounds, vibra- • Using low-impact aerobics if child is frail or
tions, colorful flags) falls easily
• Establishing and consistently using cue • Avoiding full sit-ups or stretches that bend
or feedback gestures for whatever words the spine forward and twist
are necessary for activities such as “ready,”
• Avoiding extreme back extension
“start,” “ok,” and “stop”
• Removing hearing aids and external Equipment and Support
cochlear implant devices before participat-
ing in water activities or those involving The use of proper equipment should be man-
contact dated and enforced for the safety of all children.
Equipment must be activity-appropriate, high-
Children Using Assistive Technologies quality and fit properly to function correctly.
Proper footwear with adequate cushioning,
Children who use wheelchairs are particularly rear foot control, sole flexibility for the activ-
susceptible to injuries resulting from extensive ity (Ceroni, De Rosa, De Coulon, et al., 2007;
use of their upper extremities in sports like road Micheli & Jenkins, 2001), and protective pad-
racing, basketball, track, and tennis (Barnard, ding such as shoulder and shin pads (for contact
Nelson, Xiang, & McKenzie, 2010). Most com- or kicking sports) should be required. Protec-
mon injuries involve sprains, strains, and wrist tive headgear can limit head and neck injuries
and shoulder overuse (Chen, Diaz, Loebenberg that occur from contact and collision in football,
et al., 2005; Finley & Rogers, 2004). Strategies baseball, and hockey; such headgear is approved
for safe participation (NCPAD; American Col- by the National Operating Committee on Stan-
lege of Sports Medicine) include dards for Athletic Equipment and the American
• Using appropriate equipment National Safety Institute.
• Implementing a well-designed stretching, Eye protectors should be required for rac-
training, and rest program quet sports, ice hockey, baseball, basketball, and
football and should cover a wide area, be made
• Being aware of new or modifiable equip- of impact-resistance material, and not reduce the
ment designed to minimize repetitive use visual field. All eye protectors should be approved
injuries by the American Society for Testing and Materials
• Paying careful attention to blisters and lac- or the Canadian Standards Association.
erations Mandatory use of mouth guards has cut
• Using straps or harnesses if needed for trunk the rate of oral trauma. Mouth guards absorb
stability oral and facial blows, preventing not only injury
to teeth and mouth, but also fractures, disloca-
• Using brakes to stabilize chair during static
tions, and concussions. Mouth guards should
activities
be inexpensive, strong, and easy to clean and
should not interfere with speech or breathing.
Low Bone Density They can function alone in field hockey, rugby,
Low bone density (osteopenia/osteoporosis) wrestling, basketball, and similar field events,
occurs in many children with disability due or together with face protectors in football, ice
hockey, baseball, and lacrosse (Roccia, Diaspro, wheelchairs, skiing outriggers, ergonomic han-
Nasi, et al., 2008). dles, rotation platforms, and custom prostheses
Environment assessment is also vital to are examples of technological advances that
safety. All playing areas should be well-lit; make sports more accessible. Children with
surfaces should be smooth and obstacle free spinal cord injury (SCI), who may have abnor-
with good shock-absorbing qualities (wood as mal sensory function, can wear aqua boots in
opposed to concrete). Equipment modifica- the pool to avoid pressure ulcers. Likewise,
tions shown to decrease injury (e.g., breakaway children with racing wheelchairs may require
bases in baseball) should be installed. Sports specifically placed padding to prevent skin
equipment and playing environments should be breakdown (Wilson, 2002). The use of bells
scaled to athlete size. in balls can make activities more inclusive for
Temperature and humidity should also be those with visual impairments.
carefully monitored as children have greater Proper supervision is the final ingredient
surface area for body weight compared with to safe participation. The coach is a supervi-
adults and thus a greater rate of heat exchange. sor, educator, and motivator. Approximately 2.5
They have less ability to exercise in weather million adult volunteers with varying levels of
extremes, demonstrating greater heat gain on expertise currently coach 20 million children.
hot days and greater heat loss on cold days. The AAP recommends coaches enforce warm-
Children also produce less sweat with less evap- up procedures, require suitable protective
orative heat loss, so they carry a larger heat load equipment, and enforce safety rules. In addi-
(AAP, 2000). Children acclimatize slower and tion, AAP recommends coaching certification
require more “exposures” (Bergeron, Laird, that covers teaching techniques, basic sports
Marinik, et al., 2009; Bytomski & Squire, 2003; skills, fitness, first aid, sportsmanship, and
Naughton & Carlson, 2008). Since children improving self-image and motivational skills
require more fluid replacement per kilogram of (AAP, 2010).
body weight during exercise to prevent dehy- Qualified officials and medical personnel
dration, it is important to drink plenty of liq- at games and practices are the second level of
uid before, during, and after play; thirst is not a supervision. These individuals provide game
valid indicator of water needed (Decher, Casa, control and immediate injury containment.
& Yeargin, 2008). Hydration recommendations Medical personnel can include physicians,
include pre-activity hydration of 3–6 oz for physical therapists, or athletic trainers certi-
less than 90 lbs; 6–12 oz for greater than 90 lb fied in first aid and CPR along with their sports
weight 1 hour before activity, and 3–6 oz just medicine skills (AAP, 2010).
prior to activity. During activity, 3–5 oz for less Parents are the final level of supervision
than 90 lb; 6–9 oz for greater than 90 lb should since many activities occur in the home and
be ingested every 10 to 20 minutes relative to local community. Parents have unique knowl-
temperature and humidity (Casa, Clarkson, & edge of their child, but medical personnel can
Roberts, 2005). educate them about specific issues their child
Children will generally not drink enough might confront when participating in activities.
water to hydrate; flavor-added water often stim- Parents can also provide valuable modeling and
ulates greater-volume intake (Passe et al., 2000; encouragement to their child, since many chil-
Rivera-Brown, Ramirez-Marrero, Wilk, et al., dren with disabilities have less experience with
2008). In addition, well-constituted sports exercise and sport.
drinks have a low-carbohydrate content that
provides energy, speeds fluid absorption, and
SUMMARY
provides sodium to stimulate thirst (Davis et al.,
2001; Meadows-Oliver & Ryan-Krause, 2007). Physical activity helps maintain and promote
As cool fluids infuse more easily, liquids should physical health, functional capacity, and stam-
be cold or iced. Universal education about ina for daily activities in all children. There is
hydration, and common signs of dehydration— significant need for families, schools and health
irritability, headache, nausea, dizziness, weak- professionals to increase attention to physical
ness, cramps, abdominal distress, and decreased activity needs of children with developmen-
performance—are a positive influence for com- tal disability. Concern is increasing in relation
pliance, problem recognition, and intervention to health and overweight status of children
(Casa et al., 2000). because it appears that physical activity levels
Children with disabilities often require in general may be decreasing while more sed-
specialized equipment to participate. Special entary options compete for time and attention
among children and youth. In many communi- American College of Sports Medicine. (2010). Exercis-
ties families have a wide range of recreational ing with cystic fibrosis. Retrieved from http://www.
medscape.com/viewarticle/719536
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view Wrotniak, B.H., Epstein, L.H., Dorn, J.M., Jones, K.E.,
Vis, J.C., Duffels, M.G., Winter, M.M., Weijerman, & Kondilis, V.A. (2006). The relationship between
M.E., Cobben, J.M., Jusiman, S.A., & Mulder, B.J. motor proficiency and physical activity in chil-
(2009). Down syndrome: A cardiovascular perspec- dren. Pediatrics, 118(6), e e1758–e1765. doi:10.1542/
tive. Journal of Intellectual Disabilities Research, 53(5), peds.2006-0742
419–425. Xiang, H., Stallones, L., Chen, G., Hostetler, S.G., &
Wilson, P.E. (2002). Exercise and sports for children Kelleher, K. (2005). Nonfatal injuries among US
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35 Oral Health Care
H. Barry Waldman, Steven P. Perlman, and George Acs

■ Understand the causes of dental decay and periodontal disease and become
familiar with preventive strategies and treatment
■ Become aware of the special oral considerations for children with disabilities
■ Appreciate the oral health needs during the transition to adulthood
■ Know the needs of the medical-dental home
Providing services for individuals with intel- ■ ■ ■ MAGGIE

lectual/developmental disabilities includes the
Maggie is a 6-year-old girl with Down syndrome
responsibility of community practitioners to
give needed dental care. This is not always real- being examined by her pediatrician. She is
ized effectively, however, due to numerous fac- accompanied by her parents, who have tried
tors. Limited training, experience, attitude, and to prepare their daughter for this experience.
interest of health care professionals combine However, Maggie gyrates her head and is dis-
to make one factor. Another factor sometimes tracted by bright lights and other stimuli in the
limiting care is inadequate financial reimburse- pediatrician’s office, and the clinician thus strug-
ment for dental care professionals provided gles to observe her face, lips, and tonsils. She
through the Medicaid program (Mansell et al., concludes that everything appears to be “within
2002; Waldman et al., 2001; see Chapter 41). normal limits.” Unfortunately, all too often when
Educators and clinicians also frequently lack
it comes to the oral cavity, many pediatricians’
knowledge about the dental needs of children
examinations tend to be rather cursory, consist-
with specific developmental disabilities. Such
knowledge is important so they can advocate ing of just a glance at the lips and throat. For
for care and prevent dental issues from inter- most children this sort of examination would be
fering with learning activities. This chapter routine and sufficient, but for children like Mag-
focuses on providing this information regarding gie, oral-examination procedures warrant spe-
dental needs of children with disabilities. cial care and the gathering of more information
631
632 Waldman, Perlman, and Acs
than might be apparent to routine observations defects and abnormally shaped teeth or contrib-
because of the specific risks for dental disease ute to eruption difficulties as seen in Cornelia
related to her Down syndrome. de Lange syndrome. Dentition anomalies also
occur in children with chromosomal disorders
such as Down syndrome, or in children with
ERUPTION OF TEETH inborn errors of metabolism such as mucopoly-
Although it is commonly said that the first pri- saccharidoses, Lesch-Nyhan syndrome, and
mary tooth should erupt by 6 months of age, the inherited disorders of bone formation such as
age of eruption actually varies widely, with the osteogenesis imperfecta.
first primary tooth coming anywhere between Environmental influences can also affect
4 and 17 months of age, while the full com- intrauterine tooth development. For example,
plement of primary teeth takes 2–3 years for nutritional deficiencies—especially of calcium;
complete eruption. The first permanent tooth phosphorus; and vitamins A, C, and D—may
typically emerges around 6 years of age, and result in generalized enamel hypoplasia (under-
most permanent teeth have erupted by 12–13 development), resulting in defective mineral-
years of age. Third molars (“wisdom teeth”) ization of the teeth during their development.
may erupt between 17–25 years of age. Teeth developmental anomalies may also
When a permanent tooth erupts, a pri- occur as a result of childhood illness or its
mary tooth is usually exfoliated. This does not treatment. For example, if a developing fetus
occur with the first, second, and third molars, or child between 4 months and 8 years of age
however, because they do not have primary is exposed to the antibiotic tetracycline, the
teeth counterparts. As noted previously, tooth primary or permanent teeth may have yellow,
eruption tables should be evaluated cautiously, brown, or gray discoloration when they erupt.
especially in children with developmental dis- Traumatic injury to a tooth can cause a white or
abilities, as each child’s growth and develop- brown defect on a single tooth, whereas infec-
ment is unique. Symmetry in eruption may be tious diseases (e.g., measles, chickenpox) and
more important than development coincid- chronic diseases (e.g., liver failure, congenital
ing with a conventional time schedule. What heart disease) can cause hypoplasia or defects in
occurs on the right side should occur within a multiple teeth (Avery et al., 2004).
few months on the left, and what occurs in the
mandible should occur in the maxilla within a CONTRIBUTING FACTORS
reasonable period of time.
TO ORAL CONDITIONS OF
INDIVIDUALS WITH DISABILITIES
PROBLEMS AFFECTING
It is essential to overcome the pervasive
THE DEVELOPMENT OF TEETH
attitude that “children lose teeth anyway.”
Many genetic syndromes associated with devel- While extraction is always one treatment to
opmental disabilities may have characteristic relieve discomfort (and is often the answer
developmental dental anomalies. These could for children, whether with or without special
include the presence of extra teeth, congenitally needs), extraction is but one solution. Another
absent teeth, unusually shaped teeth, abnor- approach is to emphasize the role of teeth
malities in their mineralization, or delays in in eating, speech, growth and development,
eruption. These abnormalities may contribute and aesthetics. Children with or without spe-
to malocclusion (i.e., an overbite) and/or to an cial needs may not smile because of missing
increased risk for dental caries (decay; Poole teeth, and missing teeth can negatively affect
& Redford-Badwal, 1991) and periodontal dis- the child’s physical, social, and psychological
ease. Anodontia (the absence of all teeth) is well-being as he or she develops. Various fac-
rare, but oligodontia (the absence of one or tors related to the individual child’s disability,
several teeth) can be seen in children with a such as being able to articulate the source of
number of genetic syndromes including Hall- oral pain, may make it more difficult to pre-
ermann-Streiff syndrome, chondroectoder- vent, diagnose, and treat dental disease. The
mal dysplasia, Williams syndrome, Crouzon actual treatment may also differ because oral
syndrome, achondroplasia, incontinentia disease often presents at a later stage, and
pigmenti, ectodermal dysplasia, and cleft lip treatment must be adapted to the individual’s
and palate (see Appendix B). Disorders affecting physical and cognitive impairment. Therefore
development of teeth may also lead to enamel in examining the oral cavity in the child with
Oral Health Care 633
a developmental disability, it is important to include chewing on hard, nonedible objects that

consider many factors. tend to fracture teeth. Broken and/or discolored
teeth can indicate potential infection and should
Regurgitation be documented and treated. Dentists need to be
Regurgitation (rumination) is often seen in many aware also that the fracture of anterior teeth may
individuals with moderate to profound intellec- be associated with physical abuse.
tual disabilities. Swallowing of food, followed by
regurgitation, may lead to acid reflux, indiges- Soft Tissue Complications
tion, malnutrition, erosion of teeth, and possi- Seizure medication (i.e., phenytoin) can cause
bly gastroesophageal reflux disease (GERD). hypertrophy or overgrowth of the gingival (gum)
Excessive drooling may be associated with tissue. This can lead to difficulties in delayed
regurgitation, pouching (accumulation of food exfoliation or eruption of primary and perma-
between cheeks/lips and gums) or pocketing. nent teeth, masticatory and possible advanced
periodontal problems.
Physical Limitations
Physical limitations, as seen in cerebral palsy, for Bruxism
example, may affect individuals’ ability to carry This is the grinding of teeth and usually occurs
out personal care, including teeth brushing, rins- while the individual is asleep. Continued grind-
ing, and flossing. In addition, involuntary move- ing erodes tooth structure and may cause the
ment may make treatment more difficult. need for restoration.
Prescription–Medication-Induced Decay
ORAL DISEASES
As the saying goes,“A little bit of sugar may help
the medicine go down,” but antibiotics, pain, There are two basic types of oral disease: dental
seizure control and antihistamine medication caries and periodontal disease. Both are usually
with a high sugar concentration to mask the initiated by specific bacteria and, therefore, can
taste can prove to be an ideal medium for bac- be considered infectious in nature. In general,
terial growth, acidic biofilm, and dental decay. they occur more commonly in children with
disabilities than in their neurotypical peers.
Altered Salivary Flow
Psychotropic medications will result in decreased Dental Caries
salivary flow. This can cause xerostomia (dry Dental caries, commonly called dental decay or
mouth), salivary gland with retrograde infections, cavities, occur in children and adolescents and is
possible stone formation, and an increased rate of related to the presence of the bacteria Strepto-
dental decay. In addition, reduced salivary flow is coccus mutans and Lactobacillus acidophilus. Tooth
associated with increased burning/soreness of oral decay is a multifactorial process that involves the
mucosal tissues, and with difficulty in chewing, teeth themselves, bacteria, diet, saliva, biofilm,
speaking, and swallowing. These all can adversely the immune system, biochemistry, and physiol-
affect food selection and dietary compliance. ogy. The “chain of decay” can be seen in Fig-
ure 35.1. Bacteria adhering to the teeth break
“Placating” Tooth Decay down food, creating acid as a byproduct. The
Fruit Roll-Ups, candy bars, and yes, pediatri- acid damages the integrity of the enamel, and
cian-dispensed lollipops may meet the imme- cavitation begins. Tooth breakdown and possible
diate need to calm and soothe a child or serve abscess formation can occur when caries is left
as positive reinforcers for behavior, but com- untreated over a period of time.
bined with other factors, they may dramatically Bacteria adhere to the teeth in an organized
increase decay rates. Frequent intake of sugary mass called dental plaque. Plaque consists of
snacks and sugar-coated cereals is also a poten- bacteria, bacterial byproducts, epithelial cells
tial source of tooth decay. (from the linings of the lips and mouth), and
food particles (Pinkham, 2005). When plaque
Fractured and Avulsed Teeth becomes calcified, it is called calculus, or tartar.
Mutilated dentitions, particularly of anterior Plaque, as well as unremoved tartar, can cause
teeth, are often associated with poor ambula- dental decalcification and decay, inflammation,
tory skills, a past history of trauma (accidental tenderness, and swelling of the gums. This is an
or nonaccidental as with seizures or physical early phase of periodontal disease and can lead
abuse), pica, or self-injurious behavior. Pica may to loosening of the teeth. The process of decay
I. II.
III. IV.
Figure 35.1. The chain of decay. In the presence of adverse factors, the chain of decay follows: Acid formed from the
action of bacteria on carbohydrates damages the enamel, leading to cavity formation. If untreated, the decay eventually
affects the dentin and pulp layer of the tooth and may lead to abscess formation.
is characterized by demineralization of enamel development problems or who require chronic

and dentin. The prevalence of dental caries has liquid medications that contain sugar, cavities
been cited in 42% of 2–11 year olds (National may be rampant. Evidence suggests that the
Health and Nutrition Examination Survey, infant formula’s impact on the development of
1999–2004). early childhood caries depends on the specific
For young children who are receiving car- properties of the formula. Until more definitive
bohydrate-enriched diets to treat growth and information is available, children should not be
allowed to fall asleep with a nursing bottle con- and increase the risk of dental caries and peri-
taining any liquid other than water. The same odontal diseases. In addition, it can create prob-
principle applies to children who are breast-fed. lems with facial appearance and self-image.
Prolonged breast-feeding and falling asleep with Although most malocclusions are minor and
the nipple in the mouth can also promote decay require attention only for cosmetic reasons, oth-
by acid demineralization. In addition, some cul- ers may be more severe and debilitating. The
tures’ practice of dipping pacifiers in sweetened prevalence of severe malocclusion has been
solutions increases the risk of cavities. reported to be as high as 14% in children with
In considering the role of bacteria in the disabilities; however, children with certain devel-
tooth decay cycle, it is important to note that opmental disabilities, such as cerebral palsy, have
children acquire cavity-causing bacteria duran even higher prevalence (Avery et al., 2004).
ing the early phases of eruption of their first In these children, correcting malocclusion by
few teeth. They usually contract the bacteria orthodontic therapy to position the teeth prop-
from their primary caregiver. If that person has erly can also ease routine oral hygiene and thus
a high bacterial count or possesses bacteria that decrease the risk of dental disease.
are more efficient in causing cavities, the child is
at increased risk for future cavities. Parents can
help reduce the risk of bacterial spread by them- PREVENTION OF DENTAL CARIES
selves undergoing frequent dental cleanings and AND PERIODONTAL DISEASE
restoring carious teeth.
Perhaps the most important component of pre-
Periodontal Diseases venting dental decay begins even before a child’s
birth. Eliminating or reducing the transmission
Periodontal diseases involve the gingiva and bony
of cavity-causing bacteria from the mother to the
sockets of the teeth. Like caries, gingivitis (the
child, particularly during the susceptible period
most common and reversible form of periodontal
of bacterial colonization as the first teeth are
disease) is associated with plaque and specific bac-
erupting, can have enormous benefits. There-
terial organisms (Matthewson & Primosch, 1995).
fore, strategies such as the mother having rou-
The early signs of periodontal disease involve
tine professional dental cleanings, rinsing with
inflammation and bleeding of the gums, insidi-
the antimicrobial mouthwashes, or using xylitol
ous processes whose true impact can go unrecog-
containing products such as chewing gum or loz-
nized for years. Advanced stages lead to loss of the
enges can suppress the number of cavity-forming
alveolar bone that supports the tooth. Periodon-
bacteria that would ultimately be transmitted to
tal disease is caused by both local and systemic
the child (Soderling et al., 2000).
factors. Local factors can include dental crowd-
Once the child’s teeth have erupted, the
ing of teeth, poor oral hygiene, dry mouth, and
three most important factors in protecting the
destructive dental habits. Systemic factors include
teeth from dental decay are 1) maintaining good
side effects of medications, hormonal alterations,
oral hygiene, 2) limiting ingestion of carbohy-
and immune deficiency states. Although the exact
drates, and 3) eliminating or reducing cavity-
etiology of this condition is unknown, the over-
causing bacteria. Tools for preventive dentistry
growth is generally regarded as an exaggerated
include brushing, flossing, fluoride intake, rins-
response to a local irritant. Overall, gingivitis can
ing, and dental sealants when necessary for
be found in up to half of children 4–5 years of age
permanent teeth.
with disabilities (Pinkham, 2005). All too often,
tooth extraction may be the inevitable solution in
cases of advanced periodontal disease and exten- Brushing
sive dental decay. Difficulties in patient behavior, Children younger than 6 years generally have
the effects of the disability on teeth, and limited not developed the manual dexterity to effec-
financial resources are some of the variables that tively remove plaque from their teeth. They
may lead to the removal of the teeth of individuals should be encouraged to participate in their
with disabilities. own oral hygiene; however, adults must take an
active role and assume responsibility for ade-
quately cleaning the teeth and gums. Individu-
MALOCCLUSION
als older than 6 with an intellectual disability
Malocclusion is the improper interdigitation or may not understand how to take care of their
alignment of the teeth or jaws. It can interfere own oral hygiene, and others with physical dis-
with oral functions such as speech and chewing abilities may not be able to accomplish it.
A soft, nylon bristle brush with polished, Many different fluoride formulations are
rounded ends works best. A scrubbing motion available, each with specifically indicated uses.
of the brush is nearly universal, and a power- For children who are capable of rinsing, low-
assisted toothbrush can be helpful and may potency over-the-counter fluoride rinses may
be advantageous for gingival health (Barnes, be helpful in preventing cavities. In addition,
Weatherford, & Menaker, 1993). When brush- some children may need prescribed fluoride
ing, a small, pea-sized amount of toothpaste rinses, varnish, pastes, or gels that contain
with fluoride is best. If bubbles and foam from higher concentrations of fluoride. Very often,
the paste cause a problem for the child or these higher-concentrated products are pro-
guardian performing the tooth brushing, an vided to attempt to reverse the early stages of
alternative to paste would be to use water or cavity formation. For patients at high risk for
a fluoride-containing mouth rinse. Position- developing cavities, and for those for whom it
ing the child in a supine (reclining) position may be difficult to apply daily fluoride supple-
facilitates good vision, access, and head control ments, professionally applied fluoride varnishes
and will help the adult doing the brushing. The may help. Varnish applications may provide
myriad of successful positions are as unique benefits for up to 3 months.
as the disability with which the child presents
(Avery et al., 2004; Pinkham, 2005). Dental Sealants
Sealants consist of a plastic coating that is
Flossing bonded to the chewing surface of molars to
Adults should floss for a child until he or she has prevent decay. Many children’s permanent
demonstrated adequate dexterity to do the task, molars have deep grooves that are difficult to
as improper flossing can harm gingival tissues. keep clean, but if warranted, the molars can be
Flossing should be performed wherever teeth protected by the application of sealants. Seal-
are in contact with each other as the toothbrush ants are most effective upon eruption when the
cannot clean in between the teeth. Unwaxed molars can be isolated. Studies have shown that
floss is preferred; however, any floss may be in the absence of sealants, two thirds of children
used. When dexterity or motor-coordination will have a cavity on at least one of their first
is a problem, floss-holding devices are available permanent molars (Pinkham, 2005).
and can be used by parents and/or caregivers.
Diet
Fluoride Frequent feedings or snacking is common in
Whether present in the municipal water supply, children with poor weight gain (see Chapter 8).
taken as a daily supplement, found in toothpaste, It also increases the total amount of time that
contained in a mouth rinse, or professionally teeth are exposed to foods or liquids that initi-
applied, fluoride treatment has been shown to ate the development of dental caries. To pre-
significantly reduce the incidence of dental decay vent caries, more frequent and intensive oral
and is an integral part of a preventive program. hygiene regimens are required. Similarly, chil-
Studies have demonstrated that fluoride in water dren with neuromuscular disorders that result in
can decrease the prevalence of tooth decay by up decreased oral-motor abilities need an extended
to 60% (Pinkham, 2005). Fluoride makes enamel period of time to clear food from their mouths.
more resistant to decay and remineralizes incipi- The increased contact time between teeth and
ent carious lesions, making them hard again. food, especially puréed carbohydrates, places
Fluoride supplementation should be considered these children at greater risk to develop cavities.
if fluoride is absent in the community drinking Children with neurological impairments who
water or in the water where child care is pro- have gastrostomy tubes often have poor oral
vided. Although reverse osmosis home filtration hygiene and low salivary flow, which may result
does remove fluoride from water, other systems in greater frequency of aspiration pneumonia
do not. Bottled water must disclose its fluoride and significant build-up of calculus (Jawadi et
content if fluoride has been added but not if it al., 2004). Even for neurotypical children, the
is naturally occurring. On the basis of the child’s consistency, frequency, and timing of snacks
needs and abilities, specific fluoride supplements contributes to the potential for decay. Snacks
may be recommended. It should be noted that that are sticky (not just caramels but also foods
excessive systemic fluoride, however, could cause such as sweet rolls) or oily (potato chips, fries),
fluorosis, a condition in which permanent teeth eaten frequently, and eaten between meals have
are discolored or malformed. a high potential for causing dental decay. Table
35.1 contains a list of snacks that do not com- adolescents, and people with special health care
promise dental health. needs (AAPD, 2004, 2005b). Family-centered
care is an approach to planning, delivery, and
evaluation of health care where the cornerstone
PROVIDING DENTAL AND is active participation between families and pro-
ORTHODONTIC TREATMENT fessionals. The patient-centered medical-dental
The American Academy of Pediatric Dentistry home is modeled after this approach. Children
(AAPD) recommends that all children have who have a dental home are more likely to
their first dental visit by 12 months of age. At receive appropriate preventive and routine oral
this time, parents or caregivers are educated health care because of the ongoing monitoring
about development issues that affect the teeth they receive.
and are taught strategies to effectively prevent The first dental visit should be followed by
dental disease. The greatest benefits are derived regular checkups, at intervals depending on the
when a combination of preventive dentistry child’s risk for oral disease. During these check-
techniques is recommended. Usually, very little ups, an oral prophylaxis and topical fluoride
if any treatment is necessary at this time (AADP, application will be performed to help minimize
2004–2005a). the risk of caries and periodontal disease. If car-
In order to establish effective interaction ies is present despite all preventive efforts, the
among the patient, parents, medical profes- dentist will treat this condition by removing
sionals, and other health care professionals, the decay and placing a restorative material or
the child’s oral health needs are best served a crown. The newer dental materials available
in a “dental home.” The concept of a dental today are able to offer combined advantages
home is derived from the American Academy of good strength, aesthetics, and antimicrobial
of Pediatrics’ (AAP’s) definition of a “medical activity.
home,” which states that primary health care is In terms of orthodontic care, the objectives
best achieved when comprehensive, continu- are to realign the teeth using mechanotherapy
ously accessible, family-centered, compassion- (braces) and other techniques. Although maloc-
ate, and culturally effective care is delivered or clusion is the most common condition requiring
supervised by qualified child health specialists orthodontic care, other aesthetic, functional,
(AAP, 2002). The AAPD supports the con- or periodontal considerations may pertain.
cept of a dental home for all infants, children, Orthodontic care may be indicated in certain
genetic syndromes associated with develop-
mental dental abnormalities. For patients with
Table 35.1. Foods that are good to use as snacks
Down syndrome, cerebral palsy, or cleft palate,
to maintain dental health for example, orthodontic therapy may be used
to increase room for teeth, to shape the den-
Raw vegetables
tal arches more appropriately, or to align teeth
Carrot sticks
to fabricate a well-fitting appliance. In patients
Celery sticks
with poor oral hygiene or who have a history
Cauliflower bits
of high caries activity, however, deferring orth-
Cucumber sticks
odontic treatment may be necessary until the
Green pepper rings
patient improves oral hygiene or cooperation.
Lettuce wedges
This is necessary to protect against the develop-
Radishes
ment of new dental problems, which are more
Tomatoes
likely to occur if braces are worn for extended
Drinks
periods of time.
Milk
Sugar-free carbonated beverages
Unsweetened vegetable juices SPECIAL ISSUES
Other snacks REGARDING DENTAL CARE
Nuts
FOR CHILDREN WITH SPECIFIC
Popcorn
Unsweetened plain yogurt
DEVELOPMENTAL DISABILITIES
Unsweetened peanut butter The basic principles of pediatric dental care
Cheese and oral health apply to all children. There
Sugarless gum or candy are, however, specific dental care issues related
Source: American Dental Association (1983). to several common developmental disabilities,
including Down syndrome, autism, cerebral tongue is a powerful muscle, it can reposition
palsy, meningomyelocele (spina bifida), and the teeth, leading to an anterior open bite and
patients that have seizure. flared, widely spaced teeth. Poor motor control
also results in a high incidence of uncontrolled
Down Syndrome drooling (Inga et al., 2001).
In addition to having an intellectual disability, The predilection for falling due to gait
children with Down syndrome may have certain problems, and the frequent protrusion of the
congenital anomalies such as a crowded denti- maxillary incisors, also increase these children’s
tion that place them at increased risk for oral risk for dental trauma. In addition, mouth
disease. They often exhibit mid-face hypopla- breathing and bruxism are often present (Avery,
sia and can have extra (supernumerary), miss- Dean, & McDonald, 2004; Cooley & Sanders,
ing, or small teeth which can contribute to the 1991; Nowak, 1976). Furthermore, caries and
development of malocclusion and periodontal periodontal disease appear more frequently
disease (Cooley & Sanders, 1991). Their open- because of problems in the oral clearing of
mouth posture with mouth breathing can lead food (pocketing) and difficulty in brushing and
to dry gum tissue. Congenital heart disease is flossing. The soft, sticky, high-carbohydrate
also sometimes present, which places these chil- diet that may be needed to maintain adequate
dren at increased risk for bacterial endocardi- nutrition is also a problem. Despite receiving
tis (a severe infection of the inner lining of the limited or no nutrition by mouth, children with
heart chambers) that may require antibiotic cerebral palsy who are fed through gastros-
prophylaxis prior to dental procedures. tomy tubes (see Chapter 9) are still susceptible
to reflux of stomach acid as well as plaque and
Autism Spectrum Disorders calculus buildup, placing them at increased risk
In autism, oral health needs are often dictated for aspiration problems, dental caries, and peri-
by the behavior or level of cooperation in pre- odontal disease.
vention by a child with sensory integration A number of treatment approaches can
issues, how the disorder manifests itself in the help. Providing dental care in the child’s wheel-
child’s abilities to care for his or her own den- chair or using positioning supports such as pil-
tal needs, the risk of self-injurious behavior to lows in the dental chair will allow the patient
teeth, and the impact of restricted food prefer- to be more comfortable. If brushing teeth after
ences on dental health. Dental issues related eating is not possible, wiping soft food debris
to pica, bruxism, pocketing, and side effects from the mouth using a moistened face cloth or
of psychotropic and antiepileptic medication gauze pad provides benefits. In older children,
are of particular concern in these children. In an adapted toothbrush with handle modifica-
addition, the often sugar-based food reinforcers tions, an electric toothbrush, and floss holders
that may be used in applied behavior analysis can help maintain good oral hygiene. Involun-
therapy (ABA; see Chapter 32) increase the risk tary movements and severe bruxism will often
of caries. Dental care in children with autism make restorative dentistry more difficult.
thus may require a number of strategies. Behav-
ioral guidance approaches can prepare the child Meningomyelocele
for visiting the dentist’s office and can desensi- Individuals with meningomyelocele have a caries
tize the child to preventive-practice difficulties. rate similar to that found in the general popula-
Limiting foods that generate caries should be a tion. As a result of compromised oral hygiene,
goal as well as using reinforcers that have lower however, they have a high level of periodontal
carbohydrate content. disease. Because so many of these individu-
als have spinal curvatures and many individuals
Cerebral Palsy ambulate using a wheelchair, positioning and
Poor motor control and altered muscles com- comfort are important in their dental care. The
plicate routine dental care in children with cere- presence of hydrocephalus with a shunt may also
bral palsy (see Chapter 24), who have specific bear on the child’s dental treatment; individuals
and unique oral problems. A higher incidence with ventricular shunts may require antibiotic
of malocclusion is more likely as a conse- prophylaxis prior to dental procedures. Also,
quence of the involuntary movements of the individuals with meningomyelocele have an
muscles of the jaws, lips, and tongue. Persistent increased risk of developing an allergic reaction
tongue thrusting is a particular concern. As the to latex (Engibous, Kittle, & Jones, 1993).
Seizure Disorders The 2006 National Survey of Children

In children with seizure disorders, the major with Special Health Care Needs (CSHCN)
issues are side effects from certain antiepileptic reported that over 81% of CSHCN were in
drugs (see Chapter 29), as discussed previously, need of routine preventive dental care and 24%
and from dental trauma. Approximately half of needed other dental care in the past twelve
the children receiving the antiepileptic drug months. Preventive dental care was second only
phenytoin, and occasionally those receiving to prescription medication in the frequency
phenobarbital (Luminal), develop overgrown of needs. Overall, almost 580,000, or 9% of
gingiva. Eliminating the medication may begin CSHCN who needed dental care, were unable
to reverse the condition, but the child may to obtain it. Lewis (2009) noted that “den-
require surgical removal of the overgrown tis- tal care was the most common unmet need of
sue. Fortunately these drugs have been largely CSHCN… a (statistically) significant higher
replaced by newer antiepileptic medications proportion of CSHCN relative to children
that do not cause these side effects. In children without special health care needs.” In particu-
with poorly controlled generalized tonic–clonic lar, 10% of teenagers with special health care
seizures, the use of a helmet throughout the day needs from 13–17 (who are approaching the
to reduce risk of dental trauma from falls may end of their Medicaid/CHIP eligibility years)
be appropriate until seizure control is achieved had unmet dental care needs (Lewis, 2009).
(Avery et al., 2004; Cooley & Sanders, 1991; Whether due to the financial and bureau-
Nowak, 1976). cratic limitations of the Medicaid/CHIP
programs or other factors, the reality is that
general and specialist practitioners are provid-
THE CHALLENGE OF ing only limited oral health services for children
PROVIDING DENTAL SERVICES TO and adults with disabilities and a wide range of
INDIVIDUALS WITH DISABILITIES special needs. The facts are 1) many children,
due to passing the allowed age, are out of pro-
As of the time of this publication, no nation- grams that provide support for oral health care
wide study has been conducted to determine the and into a virtual financial-assistance void in
prevalence of dental disease or the availability most states; and 2) only 10% of general den-
of dental services among the adult populations tists report that they treat children with cere-
with disabilities in the USA. As for children, the bral palsy, intellectual disabilities, or medically
report from the National Study of Children with compromising conditions often or very often
Special Health Care Needs highlighted the find- (Casamassimo, 2004).
ing that “the service most commonly reported Another issue is competency to provide the
as needed but not received was dental care” services required. In the past, dental students
[sic] (U.S. Department of Health and Human received little to no educational experiences in
Behavior, 2007). Numerous local and regional caring for children and adults with disabilities.
reports, however, provide a general apprecia- Recent changes in dental school accreditation
tion of the needs (Dao et al., 2005; Lewis et al, require creating new learning experiences to
2005; Ngui & Flores, 2007; Waldman & Perl- prepare them to care for individuals with spe-
man, 2006; White, 2002). cial needs who increasingly reside in the general
While dentistry for children was elective community. The unresolved issue is the fact
under the SCHIP legislation (see Chapter 41), that adult Medicaid programs in many states
most state programs included dental services. are limited to relief of pain and infection—even
In 2007, the reenactment of SCHIP as the for adults with disabilities. In essence, young-
Children’s Health Insurance Program (CHIP) sters with special needs are aging out of den-
mandated the inclusion of dental services for tistry (Waldman & Perlman).
all children up to age 19 who are eligible in a It should also be noted that the costs of
particular state. The reality is that the Medic- dental services are far higher than the costs of
aid/CHIP programs provide a critical funding other health services for individuals with (and
source for needed medical and dental services without) special health care needs. For families
for youngsters with disabilities (Centers for with limited financial means this may result in
Medicare and Medicaid Services, 2010b; Edel- their seeking less dental care. In 2009, private
stein, 2009). Unfortunately, the reimbursement insurance accounted for 48% of expenditures
to practitioners providing this service is low for dentist and physician services and 35% of
and many dentists have opted out of accepting hospital costs. By contrast, out-of-pocket pay-
patients with this insurance. ments represented 44% spending for dentist,
10% of physician and 3% of hospital expendi- dental education matter. Journal of Dental Education,
tures. Government spending represented 8% of 69, 1107–15.
Edelstein, B.L. (2009). Putting teeth in CHIP: 1997-
dental, 36% of physician, and 58% of hospital 2009 retrospective of Congressional action on chil-
expenditures. Despite the recent enactment of dren’s oral health. Academic Pediatrics, 9, 467–75.
national health legislation, limited changes in the Gastroesophageal Reflux Disease (GERD). (2010).
comparative sources of funding are anticipated Retrieved from http://www.medicinenet.com/gastro-
esophageal_reflux_disease_gerd/page3.htm. Retrieved
during the 2010s (Centers for Medicare and
November 22, 2010
Medicaid Services, 2009). As a result of limited Kaiser Family Foundation. (2010a). Medicaid/CHIP.
government support and the inability of private Retrieved from http://www.kff.org/medicaid. Retrieved
insurance to compensate for the void, particu- April 13, 2010.
larly for youngsters and adults with the compli- Kaiser Family Foundation. (2010b). Focus on health report.
Medicaid and Children’s Health Insurance Program
cations of special health needs, dental costs often provisions in the new health reform law. Retrieved
are “felt” to a greater extent than the propor- from http://www.kff.org/. Retrieved April 13, 2010.
tional total higher costs for medical services. Kozol, J. (1999). Savage inequalities: Children in America’s
schools. New York, NY: Harper Perennials.
Lewis, C., Robertson, A.S., & Phelps, S. (2005). Unmet
SUMMARY dental care needs among children with special health
care needs: Implications for the medical home. Pedi-
Oral health is an important component of atrics, 116, e426–e31.
overall health. It contributes to wellness of Lewis, C.W. (2009). Dental care and children with spe-
cial health care needs: A population-based perspec-
the child, eliminates pain and discomfort, and
tive. Academic Pediatrics, 9, 420–6.
enhances quality of life. Furthermore, good oral Mansell, J., Ashman, B., Macdonald, S., & Beadle-
health maximizes healthy nutrition, speech, and Brown, J. (2002). Residential care in the community
appearance. The emphasis in oral care for the for adults with intellectual disabilities: Needs, char-
child with a developmental disability should be acteristics and services. Journal of Intellectual Disabil-
ity Research, 46, 625–33.
the same as the neurotypical developing child: Maternal and Child Health Bureau. (2007). The national
prevention through home dental care and regu- survey of children with special health care needs chart-
lar office checkups in the dental home. book 2005–2006. Rockville, MD: US Department of
Health and Human Services.
Ngui, E.M., & Flores, G. (2007). Unmet needs for spe-
REFERENCES cialty, dental, mental, and allied health care among
children with special health care needs: Are there
Casamassimo, P.S., Seale, N.S., & Ruchs, K. (2004). racial/ethnic disparities? Journal of Health Care for the
General practitioners’ perceptions of educational and Poor and Underserved, 18, 931–49.
treatment issues affecting access to care for children U.S. Census Bureau. (2010). Statistical Abstract of the United
with health care need. Journal of Dental Education, 68, States. Retrieved from http://www.census.gov/compen-
23–28. dia/statab/2010/tables/10s0010.pdf.
Centers for Disease Control and Prevention. (2008a). U.S. Department of Health and Human Services.
Adverse childhood experiences study: Welcome. Retrieved (2007). The national survey of children with special health
from mhtml:file://F:ACE%20Study%20-%20Adver care needs, chart book, 2005–2006. Rockville, MD: US
se%20Childhood%20Experiences.mht. Department of Health and Human Services.
Centers for Disease Control and Prevention. (2008b). Waldman, H.B., & Perlman, S.P. (2000). Deinstitution-
Adverse childhood experiences study: Major findings. alization of children with mental retardation: What
Retrieved from http://www.cdc.gov/nccdphp/ACE/ of dental services? Journal of Dentistry for Children,
findings.htm. 67, 413–417
Centers for Medicare and Medicaid Services, Office of Waldman, H.B., & Perlman, S.P. (2005). Abuse of chil-
the Actuary. (2010). National heath expenditure projec- dren with disabilities. Environmental Protection Maga-
tions 2009–2019. Retrieved from http://www.cms. zine, 35(6), 63–68.
hhs.gov/NationalHealthExpendData/downloads/ Waldman, H.B., & Perlman, S.P. (2006). California com-
proj2009.pdf. munity residential facilities for individuals with intel-
Centers for Medicare and Medicaid Services. (2010a). lectual and developmental disabilities. Journal of the
Medicaid early periodic screening. Retrieved from California Dental Association, 34, 235–238.
http://w w w4.cms.gov/MedicaidEarlyPeriodic- Waldman, H.B., & Perlman, S.P. (2006). Dental needs
Scrn/01_Overview.asp#TopOfPage. assessment and access to care for adolescents. Dental
Centers for Medicare and Medicaid Services. (2010b). Clinics of North America, 50, 1–16.
CHIP dental coverage. Retrieved from http:// Waldman, H.B., Perlman, S.P., & Swerdloff M. (2001).
www.1.cms.gov/CHIPDentalCoverage. Children with mental retardation/developmental
Cornell University. (2008). Disability status report: disabilities: Do physicians ever consider needed den-
United States. Retrieved from http://disabiltystatis- tal care? Mental Retardation, 39, 53–56.
tics.org. White, P.H. (2002). Access to health care: Health insur-
Dao, L.P., Zwetchkenbaum, S., Inglehart, M.R. (2005). ance considerations for young adults with special
General dentists and special needs patients: Does health care needs/disabilities. Pediatrics, 110, 1328–35.
36 Assistive Technology
Larry W. Desch

■ Know the definitions of assistive technology and medical assistive technology
■ Be aware of the major types of both rehabilitative and medical assistive technol-
ogy and know examples of each
■ Understand the types of conditions that frequently create a need for assistive
technology.
■ Understand the basics of assessment for, acquisition of, and training for assis-
tive technology including the principles of “universal design”
■ Be aware of issues regarding funding for assistive technology including the defi-
nition of Durable Medical Equipment (DME) and the limitations that are often
put on the purchase of DME by insurance companies and other third parties.
The goal of this chapter is to provide neces- ■ ■ ■ JEFFREY

sary information about the major categories of
currently available rehabilitative and medical Jeffrey is a 10-year-old boy who, according to
technology assistance and the process for eval- his mother, “has come a long way” but had a
uating their use and effectiveness. This chapter “rough beginning” to his life. Jeffrey was born
does not address complementary, or alterna- 6 weeks premature and had severe hyperbiliru-
tive, therapies—for example, devices using binemia (jaundice) due to blood group incom-
unproven or disproven methodologies, such as patibility. He spent more than a month in the
colored lenses for treatment of dyslexia (AAP- neonatal intensive care unit. Jeffrey had occa-
Section on Opthalmology & Council on Chil- sional episodes of apnea and bradycardia
dren with Disabilities et al., 2009; see Chapter (periodic breathing arrests accompanied by low
38). The devices discussed in this chapter have
heart rate) and was sent home on a cardiore-
at least some basic empirical or scientific evi-
spiratory monitor. At 6 months of age, he had
dence to document their effectiveness. The
chapter also focuses on “mid-tech” and “high- severe gastroesophageal reflux (GER) that led to
tech” devices; many “low-tech” devices are displacement of a gastrojejunal tube. This required
cussed in Chapter 33. Jeffrey’s parents to learn how to use a feeding
641
642 Desch
pump that would give him formula over several communication. In this chapter, the term assis-
hours. After 2 months the manner of feeding tive technology is used to encompass all of
shifted to oral, and by one year he seemed to these terms. The chapter uses this general term
be doing fairly well with feeding and in most for medical devices as well. Medical assistive
other areas. At 16 months, however, he often technology refers to that subset of assistive
would rock back and forth “for no reason” and technology that is used for primarily medical or
life-sustaining reasons (e.g., ventilators, feeding
his language development was delayed. Soon
pumps). These devices also improve function-
thereafter, Jeffrey was referred to early inter-
ing but perhaps in more basic ways. Medical
vention, had an extensive evaluation by a team assistive devices are the only type of assistive
of developmental specialists, and was found technology which are regulated by a division of
to have an autism spectrum disorder (ASD). the FDA that deals with medical devices (http://
Despite intensive speech-language therapy for www.fda.gov/MedicalDevices/default.htm).
9 months Jeffrey did not develop much speech There are also legal definitions for “assis-
and exhibited increasing frustration because of tive technology” described in laws of the United
his communication difficulties. Jeffrey’s speech States. Although it is beyond the scope of this
therapist recommended, initially, a simple pic- chapter to go into detail about these laws, Sadao
ture-based card system and, later, a computer- and Robinson’s book (2010, pp. 9–23) provides
an excellent summary. The most recent update
ized speech-generating device for Jeffrey. After
of special education law (Individuals with Dis-
nearly a year of negotiating with their insurance
abilities Education Act [IDEA] of 2004) has
company and with Jeffrey’s school, his parents defined assistive technological devices as “any
were finally able to purchase the device. Jef- item, piece of equipment, or product system,
frey gradually became less irritable and after 6 whether acquired commercially, off-the-shelf,
months of using the speech-generating device modified or customized, that is used to increase,
he was beginning to say some words himself. maintain, or improve the functional capabili-
ties of a child with a disability. The term does
not include a medical device that is surgically
DEFINITIONS AND OVERVIEW
implanted, or the replacement of such a device”
Many children with disabilities are able to func- (IDEA, 2004, C.F.R. § 300.5).
tion more independently, have increased oppor- For many years, assistive technology has
tunities, and have improved access to the world often been thought of as referring only to
through the use of assistive, adaptive (alterna- devices containing microcomputers or other
tive), or augmentative devices. Although defi- electronics (Desch, 1986). Although such com-
nitions for these types of devices vary, there plicated devices may be the only solution for
seems to be some consensus emerging (Alper a particular disability-related problem, they
& Raharinirina, 2006; Beukelman & Mirenda, represent the higher end of the spectrum of
2005; Desch & Gaebler-Spira, 2008). Assistive assistive technology that includes low-tech,
devices are those that help alleviate the impact mid-tech, and high-tech categories and every-
of a disability, thus reducing the functional thing in between (Desch, 2008). Many people,
limitations (e.g., tape-recorded lessons for stu- even professionals working with children with
dents with a specific reading disability; Alper disabilities, do not realize that they may them-
& Raharinirina, 2006). Adaptive, sometimes selves be using assistive technology on a daily
called “alternative,” technology substitutes or basis. For example, a foam or rubber cushion
makes up for the loss of function brought on by placed over a pencil or pen to help with one’s
a disability (e.g., a sophisticated robotic feeding grip and prevent writer’s cramp is a low-tech
device providing more independence for peo- assistive device. However, the use of assistive
ple with severe spastic quadriplegia; Desch & technology is usually reserved for people with
Gaebler-Spira, 2008). Augmentative devices considerably more loss of function due to dis-
increase an area of functioning that is defi- ability.
cient, sometimes severely, but for which there Table 36.1 provides examples of assis-
are some residual abilities (e.g., a microchip- tive devices. Some items on the table are low-
powered voice output augmentative device tech assistive technology—that is, those using
for a person with dysarthria; Beukelman & low-cost materials and not requiring batteries
Mirenda, 2005). The term augmentative devices or other electric sources to operate. Exam-
currently only refers to devices used to improve ples include wheelchair ramps, gastrostomy
Assistive Technology 643
Table 36.1. Examples of available assistive devices

Types of technology
Area of disability Low-tech Mid-tech High-tech
Physical Swivel spoon (and other Reciprocating gait Electronically controlled
feeding aids) orthoses wheelchairs
Wheelchair ramps Lightweight wheelchairs Environmental control
Adapted playgrounds Adapted toys units
Most orthotics Robotic devices
Grips for pencils Functional electric stimu-
lation
Voice-input and eye-
gaze-input devices
Communication Simple picture/word On/off light for yes/no Adapted laptops
boards responses Commercial computer-
Eye-gaze picture boards One to multiple digital ized speech gener-
Visual schedule/planner message recorders ating devices (e.g.
Scanning light board TouchTalker)
Sensory Magnifying lenses Alerting systems (to Digital hearing aids
Large-print books movement/sound) Cochlear implants
Books on tape Braille typewriters Kurzweil 1000 voice-
FM transmitting output scanner
Learning Color-coded notebooks Talking calculators Problem-solving soft-
Post-it™ tags Electronic spelling/dic- ware
Flash-cards tionary Hypertext learning
Tape recorders programs
Visual schedule/planner
Books on tape Software for cognitive/
attention rehabilitation
Medical assistance Nasogastric tubes Oxygen systems Home ventilators
Bladder catheters Gastrostomy tubes Oxygen monitors
Indwelling intravenous Apnea monitors
tubes Dialysis machines
feeding tubes, and printed picture communica- items). Some of these modified devices are con-
tion boards. Mid-tech assistive technology structed at rehabilitation centers at a high cost.
generally requires battery/electrical power or However, the availability of microprocessing
is more complex in its use; for example, tele- technology has increased such that the purchase
typewriter (TTY) devices for those who are of commercial devices or commercial modifica-
deaf, home-infusion pumps, suction machines, tions to devices is becoming the most common
and sophisticated manual wheelchairs. Finally, way to acquire even the most complex, high-tech
high-tech assistive technology is more assistive devices. Where assistive devices can be
complicated and often expensive to own and obtained also varies, from public schools and
maintain. Examples include microcomputer- therapy providers to large university or private
enabled voice-output devices, home ventilators, rehabilitation centers. Most assistive devices,
cochlear implants, electronic wheelchairs, and excluding the medical assistive devices, can be
even a robotic arm controlled by a microchip obtained without prescriptions from physicians
implanted into the brain (the latter recently (but doing so usually precludes their purchase
developed by a division of the Pentagon). using insurance or other third party medical-
Assistive devices are acquired in one of three related funding).
ways: 1) direct purchase from a commercial sup-
plier; 2) development of a custom-made device TECHNOLOGY FOR
(these can be simple, handmade devices or com-
plex, one-of-a-kind devices made by an engineer
MEDICAL ASSISTANCE
or technician for use by one person); or 3) modi- The Office of Technology Assessment (OTA)
fication of an existing device such as a desktop defined a child who receives medical technol-
computer, laptop computer, or telephone (these ogy assistance as one “who requires a mechani-
modifications can also be commercially available cal device and substantial daily skilled nursing
644 Desch
care to avert death or further disability” (OTA, chest wall abnormality can decrease respiratory
1987, p. 8). These medical devices replace or muscle power and lung function necessitating
augment a vital body function and include supplemental oxygen. An example of the second
respiratory technology assistance (e.g., category is neuromuscular disorders, including
nasal cannulae for oxygen supplementation, Duchenne muscular dystrophy and spinal
mechanical ventilators, positive airway pressure muscular atrophy (Bush et al., 2005; Gilgoff et
devices, artificial airways such as tracheotomy al., 2003; see Chapter 20).
tubes), monitoring and surveillance devices Children who have chronic respiratory
(e.g., cardiorespiratory monitors, pulse oxime- failure require medical technology assistance to
ters), nutritive assistive devices (e.g., nasogas- maintain normal blood oxygen levels, prevent
tric or gastrostomy feeding tubes), equipment additional lung injury from recurrent infections,
for intravenous (IV) therapy (e.g., parenteral and promote optimal growth and development.
nutrition, medication infusion), devices to aug- These goals usually can be accomplished via a
ment or protect kidney function (e.g., dialysis, combination of oxygen supplementation, con-
urethral catheterization), and ostomies (artifi- tinuous positive airway pressure (CPAP),
cial openings for feeding or for the elimination chest physiotherapy (CPT), suctioning, and
of bodily wastes; e.g., gastrostomy urostomy medications (e.g., bronchodilators). When these
or colostomy). The use of medical technology treatments are ineffective or insufficient, how-
assistance by infants and children is fortunately ever, mechanical ventilation and tracheostomy
uncommon and most of these uses are tempo- tube placement are considered. Equipment for
rary (e.g., premature infants on apnea monitors monitoring the child’s cardiorespiratory status
or home IV use). However a recent study found may also be required (e.g., heart rate and blood
that about 20% of children admitted to a ter- oxygen monitors).
tiary hospital are dependent on technological Oxygen is the single most effective agent
devices (Feudtner et al., 2005). in treating the infant or child with chronic
In a 1987–1990 survey of children in Mas- lung disease, and supplemental oxygen may
sachusetts who are dependent on technology, be required for months or even years. Oxygen
more than half (57%) had neurological deficits, can be administered by nasal cannulae (plastic
and 13% had multisystem involvement (Pal- prongs placed in the nose and connected to a
frey et al., 1994). Since then, the incidence of tube that delivers an oxygen/air mixture), face-
technological dependency does appear to be mask, oxygen tent or hood, or an artificial air-
increasing especially in children younger than way (i.e., tracheostomy).
3 years of age, primarily as a result of improved For the child with mild respiratory fail-
survival of very low birth weight infants which ure or obstructive sleep apnea, CPAP may be
leads to increases in “chronic illness” (Wise, employed (Downey, Perkin, & MacQuarrie,
2007). The types of medical assistive devices 2000). CPAP can be applied to the child’s natural
that are required in a number of these chronic airway (via a tight-fitting mask or nasal pillows/
illnesses are described next (see Table 36.1 for cannulae). For more severe conditions CPAP
examples). can be given long-term through a tracheostomy
tube (Tibballs et al., 2010). If a child is on a
Respiratory Support mechanical ventilator, positive pressure can be
Infants and children who require respiratory administered between mechanical breaths, in
support most often fall into one of two cat- which case the technique is referred to as posi-
egories: 1) those with lung or heart problems, tive end expiratory pressure (PEEP).
and 2) those with problems with neurologi- Children with respiratory or oral-motor
cal control of breathing and/or weakness of problems also may produce excessive secre-
the muscles used to control breathing. As an tions (e.g., saliva) and/or be unable to cough
example of the first category, severe dam- effectively. Chest physiotherapy (CPT) and
age to the lungs related to prematurity, called suctioning, which can be taught to all caregiv-
bronchopulmonary dysplasia, can lead to the ers, help clear pulmonary secretions (Krause
prolonged need for supplemental oxygen (Bass & Hoehn, 2000). CPT involves the repeti-
et al., 2004; see Chapter 7). Another example tive manual percussion of the chest wall using
is the child with spastic quadriplegic cere- cupped hands. For infants, this often involves
bral palsy who may develop a severe scolio- using a vibrator. Secretions are loosened and
sis (curvature of the spine), leading to rib cage can then be cleared by coughing or, in children
distortion and stiffness (see Chapter 13). This with tracheostomies, by suctioning. Typically,
supplemental oxygen is administered before tank) or a change in the child’s condition (e.g.,
and after suctioning to prevent hypoxia from an increased need for supplemental oxygen
occurring during the procedure (Flenady & because of a respiratory infection). Because this
Gray, 2000). Suctioning and CPT are done in device records how well oxygen is being deliv-
response to need, which can mean several times ered to vital organs, it is an important moni-
a day. The newest modality for CPT is the use tor; unfortunately, it is quite susceptible to false
of an automatic device, the high-frequency alarms resulting from probe displacement,
chest compression vest. A number of recent movement of the extremity, or electrical inter-
studies attest to its effectiveness, especially ference.
in people who have cystic fibrosis (Davidson, A cardiorespiratory monitor has electrodes
2002; Dosman & Jones, 2005). pasted to the child’s chest to record heart and
A tracheostomy involves inserting a plastic respiratory rate (Silvestri et al., 2005). An alarm
tube through a surgically created incision in the is part of the system and is set off by rates that
trachea cartilage, just below the Adam’s apple. are either too high or too low. If the alarm
It is secured around the neck with foam-padded sounds, the caregiver should examine the child’s
strings. This open airway can then be attached respiratory, cardiovascular, and neurological
to a mechanical ventilator or to a CPAP device status. Like the oximeter, the cardiorespira-
with tubing that provides humidified air or an tory monitor can produce false alarms, most
air/oxygen mixture. If ventilatory support or commonly resulting from inadvertent detach-
oxygen is not needed, then a humidifying device ment of the chest leads. In the very rare event
(an “artificial nose”) is attached to the tracheos- that the alarm sounds because of a cardiore-
tomy tube. A speaking valve (e.g., Passey-Muir spiratory arrest (i.e., slowing or stopping of
valve) often is used with the tracheostomy tube breathing and/or heart rate), cardiopulmonary
to increase air through the vocal cords to allow resuscitation (CPR) and possibly the use of an
phonation. The tracheostomy tube also allows automated external defibrillator (AED) must
the caregiver to have direct access to the airway, be instituted immediately.
permitting suctioning of secretions or removal
of other blockages. Children who have tra- Nutritional/
cheostomies may spend part or all of their day Gastrointestinal Fluid Assistance
connected to a mechanical ventilator that aug-
Children with cerebral palsy and other chronic
ments or replaces their own respiratory efforts
neurological conditions are often limited in their
(Edwards, O’Toole, & Wallis, 2004).
ability to take in nutrition by mouth. Despite
often needing increased food intake as a result
Monitoring and Surveillance Devices of their motor-control problems (e.g., dyskine-
Children with disorders that affect the heart or sia), these children may be unable to ingest even
lungs are likely to require monitoring or sur- a normal intake because of oral-motor impair-
veillance devices. Although these instruments ments, gastroesophageal reflux (GER), or food
provide no direct therapeutic benefit, they refusal. In these instances, nutritional assis-
warn early of potential problems and thereby tance devices may prove helpful. Tube feed-
improve care indirectly. The two most common ings can be provided in a number of ways. The
types of electronic surveillance devices are pulse tube can be temporarily inserted into one nos-
oximeters and cardiorespiratory monitors. tril and passed into the stomach (nasogastric
They can be used individually or in combina- [NG] tube) or the second part of the intestine
tion in the hospital and at home. (nasojejeunal tube). When long-term feedings
To avoid giving too much or too little oxy- are required, a permanent tube can be placed
gen, oxygen saturation (the oxygen-carrying directly through the skin and into the stomach
capacity of red blood cells) can be monitored (gastrostomy [G] tube) or intestine (jejunos-
using a device called a pulse oximeter. The tomy [J] tube). A G-J tube combines a G tube
pulse oximeter measures oxygen saturation in and a J tube. The J tube portion travels through
the arterial blood, using a probe that is attached the stomach, the duodenum, and into the jeju-
with a special tape to one of the child’s fingers num to prevent reflux of nutrients. If the child
or toes (Nadkarni, Shah, & Deshmukh, 2000). has GER, the intervention of choice may be the
An alarm can be set to sound below a certain combination of a surgical antireflux procedure
oxygen saturation level. This most commonly (e.g., fundoplication by open or laparoscopic
occurs when there is low oxygen delivery (e.g., route; see Chapter 9) and insertion of a G tube
kinked tubing, low oxygen level in the oxygen or G-J tube. Once the feeding tube is inserted,
646 Desch
nutrition can be provided by using a commer- Universal design is defined as “the design of
cially available formula, such as Jevity or Pedia- products and environments to be usable by
sure or foods from the family’s meals that have all people, to the greatest extent possible,
been puréed along with fluids. without the need for adaption or specialized
design” (Center for Universal Design, accessed
Intravenous Fluid 3/2/12 at http://www.ncsu.edu/project/design-
Assistive Devices projects/udi/center-for-universal-design/the-
principles-of-universal-design/). A common
Long-term IV therapy (months to years), gen-
example of this is wheelchair ramps. Although
erally provided through a central venous line,
originally conceived with wheelchair users in
is most often used to provide nutrition and/
mind, anyone can use these ramps including
or to administer medication (McInally, 2005).
harried parents pushing child strollers through
Total parenteral nutrition involves providing
theme parks. The exponential increase in tech-
a high-calorie, high-protein solution directly
nology has accelerated the pace of universal
into the bloodstream by intravenous adminis-
design and most high-tech companies have
tration. Prolonged intravenous access may also
discovered the profitability of making devices
be needed to provide antibiotics (e.g., when a
suitable for the largest number of people (e.g.,
child has osteomyelitis, a deep bone infection)
touch screens on tablet computers). Table 36.2
or for cancer chemotherapy. In these situations,
lists some other principles that have been sup-
a catheter (often called a central line, Hickman,
ported by research, as defined by Sadao and
or Broviac line) may be tunneled into a deep
Robinson (2010). Additional principles will be
vein under radiological guidance and advanced
discussed later as they pertain more to specific
to a more central position, near the heart. This
types of disabilities or the assessment process.
type of catheter averts the need for repeated
placement of peripheral venous lines. In addi-
tion, a central venous catheter allows the child Table 36.2. Principles for assistive technology (AT)
to receive medication and/or nutrition at home device use with children
rather than having to remain in the hospital. 1. Families are involved in selecting,
Central lines are more stable than peripheral developing and implementing AT devices for
lines and can be maintained for months or children.
years, provided that child and caregivers strictly 2. AT devices should be an integral part of
the child’s daily routines across the home, child
adhere to sterile techniques and proper care. care, school, and other settings.
For a medical need of a few week to months, 3. AT devices should be easy to use and
a peripherally inserted central catheter (PICC) adaptable to all of the environments of the child
can be used (e.g., for short-term parenteral and family.
nutrition), and for longer-term but intermit- 4. Families are always able to obtain
tent use (e.g., chemotherapy) a subcutaneous needed AT from providers or a lending library
and receive directions for using the device or an
infusion port can be used (e.g., Mediport). Both activity.
of these catheters, however, can limit a child’s 5. AT assessment and interventions are
movement considerably, and the subcutaneous always done using an interdisciplinary team-
port site needs to be prepared before use with based manner with the family and child (if
a local anesthetic to lessen the pain of the nee- possible) being integral members of the
dle insertion. However, the subcutaneous port decision-making team.
greatly decreases the risk of site infections. 6. AT should be a consideration for every
child during the development of the IFSP
or IEP in the schools.
ASSISTIVE TECHNOLOGY 7. AT should always be seen as a tool to
foster increased learning, functioning and
FOR DISABILITIES— independence.
PRINCIPLES AND EXAMPLES 8. Families and professionals should have
access to ongoing opportunities for training to
The past three decades have seen increas- increase knowledge and understanding of AT
ing emphasis on ways to enable children use and benefits.
(and adults) who have disabilities to improve 9. Families and professionals should have
their functioning and participation in various adequate knowledge about funding sources for
AT devices and for the training needed for these
activities (e.g., mobility, communication). An devices.
important methodology for assistive technol-
Source: Sadao and Robinson (2010).
ogy which has been actively promoted and Key: IFSP, individualized family service plan; IEP, individu-
validated is the principles of “universal design.” alized education program.
Technology for Physical Disabilities Many high-tech devices such as personal com-
Children with cerebral palsy or neuromuscular puters or e-book readers that allow extra-large
disorders commonly use assistive technology, type on video screens often with one-touch
especially low-tech devices such as ankle-foot page-turning (helpful for those with physi-
orthoses, hand splints, and spinal braces (see cal limitations), have been truly life-changing.
Chapters 24 and 25). Mid-tech devices include All microcomputers being made today (e.g.,
functional electrical stimulators (FES), which e-book readers like Kindle, tablets like iPads)
provide neural stimulation to increase mobil- have built-in, easily accessible ways to increase
ity; treadmills with support frames to increase the size of the typeface on the screen or to allow
strength even in nonambulatory people; and for screen text-to-speech (including reading off
dynamic braces for treatment of a hemiplegic rows and columns, such as with spreadsheets).
arm (see Chapter 24). Personal computers, with This is another example of using the principles
the appropriate adaptations, can be very useful of universal design.
high-tech tools for people with physical disabil- Various devices using electronic technol-
ities. Transparent modifications to a computer ogy have also been developed for people who
can be made using add-on equipment and/or are blind. These include the Kurzweil 3000
specialized software programs. These modi- reading machine that translates printed words
fications permit most commercially available to voice-synthesized output and refreshable
software programs (including computer games, braille displays (e.g., ALVA Satellite) that pro-
word-processing programs, and instructional vide an alternative access in the form of braille
programs) to be used. Transparent modifica- to the text or content displayed on a computer
tions do not modify or interfere with either the monitor. See Chapter 11 for more information
computer or the standard software program. on assistive technology for people with visual
An example is the keyboard emulator, which is impairments.
often a device such as a joystick that replaces Since the mid-1980s, there has been an
the keyboard (Keates & Robinson, 1999). Key- explosion in the complexity and efficacy of
board emulators function by taking the output hearing aids for people with hearing impair-
from a special keyboard or input device, alter- ment. Digital programmable hearing aids were
ing it, and then translating the original sig- one device to emerge, allowing improved cus-
nal into a different format that the computer tomization for an individual’s specific degree
interprets as coming from its own keyboard. and range of hearing loss. Many mid-tech solu-
Another keyboard emulator is the popular, tions are also available—for example, assistive
affordable speech recognition systems, such as listening devices (infrared or FM transmitters)
those known under the Dragon name, where a in movie theaters and classrooms, and palm-
keyboard is not necessary (especially useful to sized telecommunication devices for use with
those persons with no ability to control hands telephones.
or fingers). More information about these and For the child with a profound hearing
related devices and vendors is available from impairment, as well as for their families and
websites such as http://www.abledata.org and others, there have been advances in methods to
http://www.closingthegap.com. learn lip-reading and sign language by computer
In addition to multiple-use devices such modeling programs. In addition, versions of the
as computers, many single-application devices electronic cochlear implant (CI) have been
have been designed or adapted for people with gradually improving; for most individuals, this
physical disabilities. Examples range from rela- device can restore a type of hearing or at least
tively simple mid-tech feeding devices to elabo- an improved awareness of sounds (Stern et al.,
rate high-tech environmental control units that 2005; Zwolan et al., 2004). The surgical implan-
can turn lights and appliances on and off and tation of CI, however, is not without risks, such
can dial a telephone (See Table 36.1). as meningitis, and children need careful follow-
up (Rubin & Papsin, 2010). See Chapter 10 for
Technology for Sensory Impairments more information on assistive technology for
people with hearing impairments.
People with sensory impairments have been
helped in many ways by assistive devices. For
Technology for
people with visual impairments there are low-
tech magnification devices and mid-tech aids Communication Impairments
such as alerting systems, laser canes, taped books Many types of augmentative and alternative
or hand-held digital text-to-speech systems. communication (AAC) devices exist to assist a
648 Desch
person who is unable to use speech for com- attentional, and motivational demands as well
munication (see Table 36.1). Most devices are as any physical limitations. An overview of the
used for persons who have physical disabili- evaluation process is presented later in this
ties, but AAC has recently been shown to be chapter but resources such as the book edited
quite effective for children who have an autism by Soto and Zangari are invaluable for more
spectrum disorder (ASDs; Schlosser & Wendt, complete details about AAC assessment and use
2010). Concerns have been raised in the past with both younger and older children (Soto &
that using AAC might slow down the acquisi- Zangari, 2009).
tion of verbal language, but recent research has When compared with high-tech comput-
shown that the use of AAC actually increases erized AAC technology, there are significant
the development of speech (Binger et al., 2008). problems with low-tech and mid-tech devices:
Low-tech devices include various lists of 1) they get the message across slowly, 2) they
words or pictures mounted on durable material. provide limited messages (i.e., usually only
These communication cards, books or boards those about basic needs), and 3) they require
are used in face-to-face communication; the user face-to-face interaction. Spoken communica-
points to the selected word or picture to com- tion among typical individuals is normally per-
municate a specific message. A battery-operated formed at such high speed that much patience
scanning communication device using mov- is needed for conversations between typically
ing lights on pictures is an example of a mid- communicating people and those using a com-
tech AAC device. Other mid-tech AAC devices munication system (especially low-tech systems
include portable voice output storage units that involving symbols, letters, or word boards).
require direct selection and hold only a few min- Although these methods are extremely slow,
utes of prerecorded sentences or phrases. such low-tech devices should not be abandoned.
High-tech electronic communication They often are just as effective, if not more so,
aids, often incorporating single symbols to than high-tech devices in face-to-face commu-
substitute for groups of words, are becoming nication. Electronic devices are often limited
more commercially available (Beuekelman & by their need for a power source, and most are
Mirenda, 2005). Building upon the principle of not suitable for outdoor activities such as going
universal design, various software companies to the beach or walking in the rain. Thus, low-
have started using laptop or tablet comput- tech solutions such as word and picture boards
ers (e.g., the Apple iPad), which have internal should always be part of an overall communica-
speakers, as the core part of a communication tion system and should be available as a backup
system, thus increasing the versatility of these to electronic devices. An extensive table which
communication aids. Rather than being used addresses no- and low-tech AAC interventions
only for person-to-person communication, can be found in the recent publication by Sadao
these adapted portables can be used for all and Robinson (2010, pp. 78–81).
types of communication—letter-writing, tele-
communications, social networking, e-mail, and Technology for Cognitive,
tweeting. Transparent modifications to allow
Attentional and Learning Disabilities
for simple switch controls have been developed
for those persons who also have physical dis- Children who have learning differences have
abilities (see http://www.closingthegap.com for been helped by various assistive technology
examples). These adapted computers also can devices and strategies (Behrmann & Schaff,
be the foundation for environmental controls, 2001; Hetzroni & Shrieber, 2004). Often these
safety systems, and therapeutic recreation (e.g., strategies have been used with cognitive reha-
Internet-based, virtual-reality computer com- bilitation as well, such as after a traumatic brain
munities such as Second Life; Lange, Flynn, & injury (LoPresti, Mihailidis & Kirsch, 2004).
Rizzo, 2009; Sigafoos et al., 2004; Weiss, Bialik, Many software programs have been devel-
& Kizony, 2003). The aforementioned web- oped since the late 1980s that use computers
sites, http://www.abledata.org and http://www. to assist in reading, math, and other types of
closingthegap.com, have examples of these sys- special education instruction. These programs
tems as well as lists of vendors. range widely in price and utility, and only
Proper assessment is critical when dealing recently has enough research been performed
with AAC devices as communication demands to begin to determine their effectiveness and
change with developmental level and with the generalizability, especially over the long term
environment. There are many areas of function- (Edyburn, 2006; Lahm et al., 2001). Computer-
ing that have to be evaluated such as cognitive, based instruction, however, has several unique
advantages, perhaps the most important of this equipment to/from a school; and 2) when
which is the ease of individualization. It is pos- recovering at home from a hospitalization or
sible to build on children’s strengths and talents orthopedic surgery (e.g., common in children
and develop alternative ways of learning. Very who have cerebral palsy or spina bifida).
few children in special education have their own
personal teacher on a full-time basis, so using a ASSESSMENT FOR
computer can allow these children to begin to
develop independent learning skills. It is crucial
ASSISTIVE TECHNOLOGY
to first fully evaluate the educational strengths It is important that the assessment process for
and needs of a student who has learning diffi- and the prescribing of any assistive device be
culties and then apply the assistive technology done by a knowledgeable team of individu-
where it can best support learning in multiple als. Depending on the type of assistive device
environments (e.g., home, school, college). to be prescribed, this interdisciplinary team
Most of the time, however, low-tech and mid- may include a speech-language therapist, a
tech solutions should be considered initially. A physical therapist, an occupational therapist, a
high-tech solution is often not the best answer rehabilitation engineer, a neurodevelopmental
for a specific problem that a child is having in pediatrician, neurologist, a physiatrist or other
school (Edyburn, 2006). physician, special educator, a social worker, and
The most promising examples of com- a computer specialist. Also included in the team
puter-based instructional software have been are the child who will be using the device(s)
developed recently using the principles of uni- and his or her family members, who can offer
versal design such that differing levels of need critical advice in making final device recom-
for assistance can be incorporated in the same mendations. This team approach is needed to
software (i.e., text-to-speech for those chil- properly evaluate the child’s motor and intellec-
dren who have severe reading disabilities) and, tual capabilities and to narrow down the devices
thus, being more cost-effective for schools to that may fit within the child’s abilities and needs
purchase (Curry, Cohen, & Lightbody, 2006). (e.g., be part of an IEP—individualized educa-
The National Center on Accessible Instruc- tional program). A recent Clinical Report from
tional Materials has information for schools and the American Academy of Pediatrics (AAP) is
families on assistive technology and alternate- available that provides detailed information
format materials for children with disabilities about this assessment process (Desch & Gae-
(their web site is at http://aim.cast.org/learn/ bler, 2008).
aim4families). For example, a child who may Figure 36.1 summarizes the assessment
or may not have a math disability and requires process. (See the functional evaluation of the
additional work to learn a math concept might individual section, which follows, for more
benefit from drill and practice type of soft- information on the assessment tools mentioned
ware. Or a child who is having difficulty with in this figure). An important aspect of assess-
vocabulary improvement may need additional ment is the consideration of the range of assis-
independent practice using software that helps tive technology that may be useful. The best
to create words and phrases (e.g., using a game approach is to begin with the low-tech devices
format to enhance adherence). and to move on to mid-tech or high-tech devices
“Distance education” methodologies using only if needed. For example, to get around the
the Internet are another potentially cost-effec- home, a child with a severe physical disability
tive method for instruction or rehabilitation. may benefit more from ramps and wider doors
A student can work from an interactive learn- than from a power wheelchair. The assessment
ing experience asynchronously at home or in process often involves making educated guesses
a hospital at their own pace and convenience (based on prior experiences with other people
(Moisey, 2004; Sitzmann, Kraider, Stewart, & with similar disabilities) and then having the
Wisher, 2006). These methods can be either individual try out the devices chosen. A single-
a substitution for in-school instruction or in subject design methodology is often used to add
addition to that instruction and also often use some objectivity to this device selection process
universal design to improve their accessibil- (Zhan & Ottenbacher, 2001). The most com-
ity. Distance methods have also been used for plete evaluation possible should be undertaken
rehabilitation purposes (which is often game- prior to purchasing the equipment, including
based; Lange, Flynn & Rizzo, 2009): 1) when testing the device in all settings where it will be
adaptive equipment is needed (e.g., a keyboard used. This avoids buying a device that is unus-
emulator) the student doesn’t need to transport able or inappropriate.
650 Desch
Evaluation of
the person Determining
(objective and functional
goals (e.g.,
subjective
mobility
measures)
Selection
Monitoring and of devices:
feedback (e.g., matching
using QUEST 2.0 person to
and PIADS) technology (e.g.,
a trial comparison
of devices
Training on
specific device
(e.g., using
simulators, real-
world practice)
Figure 36.1. The assistive device assessment cycle. (Key: QUEST 2.0, Quebec User
Evaluation of Satisfaction with Assistive Technology, Version 2.0 [Demers, Weiss-Lam-
brou, & Ska, 2000]; PIADS, Psychosocial Impact of Assistive Devices Scale [Day, Jutai, &
Campbell, 2002; Routhier et al., 2001].)
Functional 1998a; Scherer & Craddock, 2002). It stresses

Evaluation of the Individual the importance of addressing environmental,
personal, and technology-related issues. Envi-
The ultimate goal for a person using an assistive ronmental issues include the family structure
device is to achieve the highest possible level of and the work or school settings. The personal
functioning. The World Health Organization area includes recognition of functional limita-
(WHO) has introduced the International Classifi- tions, motivation, coping skills, and personality
cation of Functioning, Disability and Health (ICF), traits (e.g., optimism exerts much influence.)
a system that produces an overall picture of an indi- The technology area includes the character-
vidual’s capabilities, rather than solely focusing on istics of the assistive device: reliability, ease of
the disability (WHO, 2001). A number of other use, adaptability, and whether any discomfort or
standardized instruments have been developed that stress is caused by its use. Scherer and colleagues
can be used to evaluate the current functioning developed an assessment tool, the Assistive
and impact of treatment or intervention, includ- Technology Device Predisposition Assessment,
ing assistive technology, on children with various which uses the MPT model to facilitate a match
types of disabilities. These include the children’s between the device and the person to ensure a
version of the Functional Independence Measure good long-term result (Scherer, 1998b; Scherer
(Wee-FIM; Wong et al., 2005) and the Pediatric & Craddock, 2002). Table 36.3 lists factors that
Disability Inventory (PEDI; Ostensjo et al., 2006). are part of this model, in particular, those relat-
A number of studies have shown that ing to the potential abandonment of devices.
between one third and three quarters of assis- There are also assessment tools that determine
tive devices are abandoned shortly after they the efficacy and satisfaction of the device once in
are obtained (see Table 36.3; Day, Jutai, Wool- place: the Quebec User Evaluation of Satisfac-
rich & Strong, 2001; Galvin & Scherer, 2004). tion with Assistive Technology (QUEST), now
To improve utilization, techniques have been called QUEST 2.0 (Demers, Weiss-Lambrou,
developed to predict the successful use of assis- & Ska, 2002), and the Psychosocial Impact of
tive devices. One approach is the Matching Per- Assistive Devices Scale (PIADS; Day, Jutai, &
sons and Technology (MPT) model (Scherer, Campbell, 2002; Jutai et al, 2005).
Table 36.3. Factors associated with abandonment of an assistive device

Possible issues Possible solutions/preventatives
Improper or ineffective training on the use of a device Use a multi- or interdisciplinary team approach to
(e.g., single-session training without follow-up and training with the device.
feedback)
Problems or obstacles in the environment preventing Assess all potential environments in which the device
use of a device (e.g., second-floor rooms inacces- will be used.
sible to a power wheelchair user)
Faults or failures in performance of the device (e.g., Consider using a rental or loaner device to try out.
assistive device that is too sensitive to movement) Become very knowledgeable about the devices
being considered.
Device size, weight, or appearance (e.g., assistive Develop connections with several vendors of
device decorated with pink roses given to a boy) devices. Be creative with individualizing the
devices (e.g., put colorful stickers on).
Motivational factors in the user and/or family mem- Consider cultural factors. May need social work or
bers (e.g., depression occurring after traumatic similar evaluations of the client and the family.
injuries)
Perceived lack of or minimal need for the device (e.g., Consider cultural factors and socioecomic factors
decision made not to leave the house rather than to (e.g., social work assessment)
use a wheelchair)
Functional abilities that worsen or improve (e.g., pro- Ensure appropriate medical follow-up of the underly-
gressive disorder or recovery) ing condition (usually with subspecialists)
Source: Scherer (1998a).
Training in the Use of the Device For example, studies of power wheelchair use
The physicians, therapists, or educators who have demonstrated that a child as young as 2
prescribe or recommend electronic assistive years old can be quite successful manipulating
devices or assistive devices in general must also one and reap considerable social benefits as well
ensure that the child receives proper training from the success (Bottos et al., 2001). One study
for using the device, and then be monitored suggests that for children with communicative
afterwards. For some devices and software, disabilities, if AAC devices are not being suc-
demos and simulators are available (e.g., power cessfully used by first grade, the child will not
wheelchair controls, AAC devices), which can be an active participant in the classroom setting
help with training before the actual device is (Buekelman & Mirenda, 2005).
ordered (Harrison et al., 2002). Simulators are Although assistive devices can mark-
especially helpful in evaluating reaction time, edly improve function, medical technology
speed, and accuracy (Furumasu, Guerette, & can sometimes promote social isolation. In
Deffi, 2004). school, the child is likely to be treated differ-
ently because of the accompanying equipment
and medical/nursing needs. The presence of
EFFECTS OF ASSISTIVE a tracheostomy and ventilator can be particu-
TECHNOLOGY ON THE larly intimidating. This can be partially offset
FAMILY AND COMMUNITY by educating classmates and teachers and pro-
viding psychological counseling for the child.
Assistive technology compensates for or The child and family must also learn to deal
builds on the individual skills that each person with the underlying medical problems that led
already possesses. It can lead to increased feel- to the technology dependence. It is generally
ings of success and self-worth and, it is hoped, easier for a child and family to cope with medi-
improved functioning (Kirk & Glendinning, cal technology assistance on a short-term basis,
2004; Wang & Barnard, 2004). For example, such as when intravenous antibiotics are neces-
several studies have provided evidence for the sary to treat a severe infection or when a tem-
positive effects of adapted toys on intellec- porary ostomy is required following abdominal
tual development (Besio, 2002; Brodin, 1999). surgery. If the child has a severe chronic disease,
Although much uncertainty remains about the however, adaptation to assistive technology is
earliest age at which a child can successfully use only one issue among many that the child and
an assistive device, some pilot studies suggest family must face. Studies have suggested that
children younger than 5 years of age can benefit. families fare better if the more significant type
652 Desch
of technological assistance, such as mechani- in the child’s care. If the child requires special
cal ventilation, lasts less than 2 years (Edwards, rehabilitation therapies after discharge, either
O’Toole, & Wallis, 2004; Montagnino & Mau- center- or home-based providers should be
ricio, 2004). More prolonged periods are asso- arranged. Educational services also need to be
ciated with an increased risk of parental stress identified, and the child’s health care and reha-
and depression (Montagnino & Mauricio, bilitative plans should be written into an indi-
2004). The provision of in-home respite care vidualized family service plan (IFSP) for early
and family-to-family support systems can be intervention services if the child is younger
extremely helpful in these situations. than age 3, or into an IEP if the child is older
Despite financial and psychosocial diffi- (Committee on Children with Disabilities,
culties, children who require chronic and sub- 1999, Council on Children with Disabilities,
stantial medical technology assistance are being 2007). In addition, the school nurse needs to
included in the community (Feudtner et al., develop an individualized health care plan as
2005; O’Brien & Wegner, 2002; Rehm & Rohr, well as emergency plans for the child. A cen-
2002). A very useful, extensive, and practical ter- or school-based educational program offers
book is available from the American Academy the child the opportunity to interact with other
of Pediatrics which has many recommendations children in a stimulating environment. These
that help to ensure successful home care (AAP out-of-home experiences should be encouraged
Section on Home Health Care, 2009). if the child’s physical condition permits and if
Home care, especially when ventilator assis- appropriate medical or nursing supports are
tance is required, becomes a viable option only available.
after a number of requirements have been met
(Carnevale et al., 2006; Heaton et al., 2005): Funding Issues
1. The family must master the child’s medical
Assistive technology can be very expensive,
and nursing care
depending on the type of equipment required
2. The family needs to select a nursing agency and the extent of the disability and the profes-
if home nursing services are required sional staffing needs of the child. For medical
3. A durable medical equipment (DME) sup- assistive technology, the two major issues are
plier needs to be found for equipment, payment for home nursing care and DME and
disposable supplies, and in-home support supplies (including technological assistance). It
(e.g., equipment maintenance and monitor- is sometimes easier to obtain funding for the
ing) former than for the latter; however there is a
4. The funds to pay for all of these services national shortage of pediatric home care nurses.
must be arranged The primary source of funding of both is insur-
ance, private and public, and each has restric-
5. Modifications to the family’s home may be
tions that may affect the provision of medical
needed, such as changing existing electrical
assistive technology (see Chapter 41). Every
systems and adding ramps for wheelchair or
third-party medical payment source has docu-
adapted stroller accessibility
ments which detail which DME will be paid for
6. If mechanical ventilation is required, local and under what circumstances. It is crucial that
electric, ambulance, and telephone com- both the providers (e.g., physician) and the fam-
panies must be notified that a person ily be familiar with this “approved DME list-
dependent on life-support technology will ing,” as it is difficult to get funding approval for
be living in the family’s home so that the items that are not part of the contract from the
household can be placed on a priority list insurance carrier.
in the event of a power failure or a medical For assistive technology that can be used
emergency in schools, the Individuals with Disabilities
Medical, educational, and therapy (e.g., Education Improvement Act of 2004 (PL 108-
occupational therapy, physical therapy) services 446) as well as other laws (e.g., the Technol-
also need to be arranged before discharge from ogy-Related Assistance for Individuals with
the hospital. A community pediatrician or fam- Disabilities Act of 1988 [PL 100-407]—the
ily physician should be identified to provide “Tech Act”) and legal opinions specifically
general medical care. The hospital team should indicate that funding should be provided for
contact this physician prior to the child’s dis- “technological” devices (including software)
charge to introduce the child and encourage that are part of a student’s IEP. Yet, finding
the community physician’s active participation funds to support this actually can be difficult,
and insurance companies, philanthropic agen- new and specialized, and they usually are not
cies, school systems, and parents often must included on lists of approved products that are
cooperate. Another concern is that often eligible for funding. As a result, many funding
schools will restrict the use of the software or agencies need to be properly educated about
device to the school program (and the student these devices’ potential use to improve func-
is not able to take it for use at home). How- tioning and independence for individuals with
ever, this situation should only occur if the disabilities. Patience and perseverance are fre-
school paid the full amount for the device. quently necessary for funding to be secured.
For some devices, such as home ventilators, Initial denials of payment are almost automatic
suctioning, or specialized feeding equipment, for some funding sources; however, these deni-
insurance companies universally recognize that als are usually subject to appeal and reversal. A
these are medically necessary DME and will pay recent Clinical Report from the AAP has addi-
for them. There continues to be controversy, tional information about the funding process,
however, as to whether other assistive devices are especially for AAC devices (Desch et al., 2008).
medically necessary or whether they are educa- Other resources are the guidelines and charts
tionally necessary. For example, AAC devices, included in Sadao and Robinson (2010, pp.
wheelchairs, or standing frames for children who 17–23).
have cerebral palsy could be used both at home
and at school. If a device is shown to be primar- Advocacy Information
ily medically necessary, and therefore DME, it Fortunately, sources of information about assis-
may be possible to obtain funding from medical tive technology are increasingly accessible.
insurance companies. If they are educationally Statewide Technological Assistance Services
necessary, the school system should purchase the (Tech Act sites) are now available in all states,
needed devices. The Tech Act has tried to solve and information from them is becoming more
the problem of discriminating between medical widely accessible. ABLEDATA, which is funded
and educational use by legally allowing Medicaid by the National Institute for Disability and
funding to be used by the school to purchase the Rehabilitation Research, is an example of a large
assistive device. The Tech Act further requires database that holds continuously updated infor-
that the child be permitted to take home such mation about assistive technology pertinent to
devices for educationally related purposes. This many disabilities (http://www.abledata.org).
federal Tech Act sets a precedent for medical Various organizations dealing with children
funding to be at least considered for the purchase who have disabilities, such as the Council for
of essentially all assistive devices. The Tech Act Exceptional Children (http://www.cec.sped.
also funds lending libraries in most states, and org), have developed user-friendly online ser-
many commercial vendors also allow opportuni- vices that can be used to obtain references and
ties for lending out devices for a short time for a abstracts about many facets of assistive technol-
“trial use.” ogy, especially in regard to school-related ser-
For years, most forms of private and gov- vices. On the Internet, there are an increasing
ernment medical insurance (e.g., Medicaid) number of sites offering resources for people
have been willing to pay for the purchase of interested in assistive technology, although
wheelchairs, and they gradually are beginning many of these are thinly veiled advertisements
to fund other types of assistive devices. For- from companies or sites that propose “alterna-
tunately, AAC devices are increasingly being tive therapies.” Therefore, all web sites must be
seen as medically necessary in much the same evaluated critically.
way as wheelchairs are. Physicians are often
called upon to send medical necessity letters
and prescriptions to funding sources for assis-
SUMMARY
tive technology (Committee on Children with Most children with disabilities who use assis-
Disabilities, 1999; Council on Children with tive technology employ it to make their day-
Disabilities, 2007; Desch et al., 2008; Sneed, to-day living easier or to improve functioning.
May, & Stencel, 2004). This can best be done However, some children use a medical assistive
after the physician consults with the child’s device that replaces or augments a vital bodily
therapists and then summarizes current abili- function such as breathing. For the group using
ties and expected outcomes from using the rehabilitative assistive technology (e.g., power
assistive device. Many assistive devices and wheelchairs, AAC, hearing and vision aids),
their related professional services are relatively perhaps the best way to ensure the availability
654 Desch
of future vocational opportunities is to pro- REFERENCES

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Association for Pediatric Ophthalmology and Stra-
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37 Caring and Coping
Helping the Family of
a Child with a Disability
Michaela L. Zajicek-Farber

■ Understand the impact a developmental disability has on family functioning
■ Be knowledgeable about strategies and resources that can help families cope
with having a child with a developmental disability
■ Learn the principles of family-centered care
■ Recognize the influence of societal attitudes on the outcome of children with
disabilities
The preceding chapters have focused on the children, professionals must engage in family-
medical, rehabilitative, and educational sup- centered care (Seligman & Darling, 2007).
ports for various developmental disabilities. This chapter addresses issues that families face
Equally important is the impact disabilities throughout their lifecycle and the approaches
exert on family functioning. All families are professionals can take to help them.
not alike and how a family handles the day-to-
day needs, wants, and stresses of its members’ ■ ■ ■ SAMANTHA
influences to a great extent the well-being and
outcome of the child with disabilities (Reich- Samantha is an 8-year-old girl with Down syn-
man, Corman, & Noonan, 2008). Professionals drome. When Samantha was born, her parents,
have come to realize that most families possess Monica and Sean, were excited by the prospect
strengths and resiliency for guiding their own of having their first child. Both parents were in
life course and for grappling with childrearing their mid-to-late twenties, healthy, and well con-
issues, regardless of the type and degree of their nected with their extended families and friends
child’s disability. In addition, professionals have in the community. They were diligent about pre-
also come to appreciate the importance of lis-
natal care, Sean often attending prenatal visits
tening to the immediate and long-term needs of
with Monica. They were both employed full time,
the families. This leads to building a collabora-
tive partnership with families and other profes- but Monica planned to take a 6-month maternity
sionals to assure optimal care and quality of life leave. Following a medically uneventful delivery,
for children with disabilities and their families. they were devastated to learn that Samantha
To be effective in working with families of these had Down syndrome. As a way to cope, Monica
657
658 Zajicek-Farber
spent several hours in her hospital room refus- also coordinated her ongoing medical needs
ing to see anyone, including Sean or her baby. through the hospital’s Down syndrome clinic.
Sean left the hospital, trying to figure out what They gained information on how to access
to do. He made calls to his and Monica’s parents early intervention services for Samantha’s early
about the turn of events. Everyone in the fam- educational and developmental care, including
ily was distressed. The obstetrician convened a nutrition and feeding, speech and language,
quick team meeting to provide assistance. By and optimal ways for promoting parent–child
the end of the day, Monica and Sean agreed to attachment through play and regular parent–
meet with their obstetrician, the hospital social child interaction. They received information on
worker, and the lactation nurse. The obstetrician health insurance options and future life care
reviewed the health of their baby and noted that planning for Samantha. They were provided
baby Samantha, although currently healthy, had with connections on how to meet other families
a heart defect that would need to be corrected of children with Down syndrome in the commu-
in the future. The social worker explained her nity and with information on services that other
role in supporting new families and provided families found helpful in caring for their child.
a folder with a variety of resource information They learned how to gain emotional and
about maternal postpartum care, breastfeed- mental health support for coping with ongoing
ing, baby care, and specific information about distress and for respite care, and where to seek
raising a child with Down syndrome. The nurse information as future needs arose. The hospital
explained how she would provide support to social worker continued to meet with the family
Monica regarding Samantha’s feeding. Both each time they came for Samantha’s follow-up
parents agreed to a follow-up meeting. Monica at the Down syndrome clinic and coordinated
cried as she breastfed Samantha for the first community services. She noted that over time,
time. In the subsequent days, the social worker the parents’ coping and adaptation changed in
and Samantha’s pediatrician met together with the context of Samantha’s and family members’
the parents and one set of grandparents, while needs. Samantha’s parents’ feelings of distress,
the out-of-town grandparents participated by sorrow, and anger were periodically triggered by
a teleconference, to answer questions about life-cycle events such as when they first enrolled
Samantha’s condition and care. Samantha into a local preschool program that
The whole family was overwhelmed. Mon- was unfamiliar with needs of children with Down
ica and Sean kept asking, “What did we do syndrome, or when Sean became temporarily
wrong?” while one set of grandparents worried “downsized” in his employment and lost family
whether they needed to do genetic testing on health insurance. Such feelings were balanced
everyone in their family, and the other set of by her parents’ ongoing love and commitment
grandparents worried whether Samantha would to Samantha’s well-being and care.
be able to attend regular school and support With time, Monica became involved with
herself in the future. The social worker and the the local Down syndrome organization and
pediatrician answered many different kinds of a resource to other parents; Sean became
questions about what the parents and extended involved in the Special Olympics, assisting
family could do to help Samantha to develop in Samantha and other children with disabilities
healthy and positive ways. This intensive meet- to participate in exercise and other socialization
ing took over an hour and served as a precur- events. Their marriage went through stressful
sor to many other meetings coordinated by the times, and following Samantha’s heart repair,
social worker. they sought marriage counseling that sup-
Subsequently, Samantha’s parents learned ported their bonds. Most of the extended family
about available supports for families of chil- has learned to realistically understand Saman-
dren with developmental disabilities. They tha’s abilities and challenges, but periodically
learned how to establish a medical home for differences in their views and lack of available
Samantha through primary pediatric care that services in the community create family tensions
provided regular well-baby follow-ups and and worries about the future.
Caring and Coping 659
Understanding Family SystemS influence their cultural style and behavior,

including their childrearing beliefs and parent-
Families exist within the broader network of ing practices (Hanson & Lynch, 2004). Their
their communities and social networks. Bron- beliefs can influence how much they will trust
fenbrenner’s (1986) ecological systems model professionals, caregivers, or caregiving institu-
helps illustrate the interactive nature of family tions and the manner in which the family adapts
existence within a microsystem, mesosystem, exo- to their child’s disability.
system, and macrosystem. The family, through its As families deal with their child’s dis-
matrix of activities, roles, interpersonal rela- ability, they also confront their beliefs sys-
tionships, and material and physical charac- tems about who and what can influence the
teristics, represents the primary microsystem. future course of events (Farber & Maharaj,
The family interacts with other microsystems 2005). Some families believe that this control
such as child care, schools, employment, health rests in their own hands, while others believe
care, and a variety of community programs. that control rests in the hands of their reli-
In turn, the interactions among microsystems gious beliefs, fate, or even pure chance (Ariel
constitute the mesosystem. The functioning & Naseef, 2006). Family views influence the
of both the micro- and mesosystems is further interpretation of events related to the disabil-
influenced by the exosystem and macrosystem. ity, their help-seeking behavior as a response
The exosystem represents the policy environ- to the disability, and their approach to caregiv-
ment, and the macrosystem the broader societal ing (Xu, 2007). Views and values also influence
and cultural beliefs and values that influence all the family’s ability to adapt, negotiate differ-
systems. ences, manage stress, and make decisions. In
Within the microsystem, families are viewed turn, families’ adaptability influences their
as interactive, interdependent, or reactive, and ability to provide or facilitate the following:
when something happens to one member in daily care, economic employment, sustenance,
the family, the whole family system is affected. housing, education, vocational-skill develop-
Families differ with regard to their member- ment, socialization, community engagement,
ship characteristics and views. Families must be recreation, bonds of affection, and spirituality.
considered as configurations that include not Children with disabilities can both posi-
only two-parent families but also step-families, tively and negatively affect these and other fam-
adoptive families, foster families, and intergener- ily functions (Durà-Vilà, Dein, & Hodes, 2010;
ational families. Families may consist of commit- Turnbull et al., 2006). Moving through devel-
ted persons who 1) may not be legally married, opmental life cycle transitions can be a major
2) have gay and lesbian partners, 3) are cohab- source of stress and challenge for any fam-
iting or remarried heterosexual couples, 4) are ily, particularly for those raising children with
widowed with children, or 5) are single parents. disabilities. These life cycle events begin with
Families may be adversely affected by an unem- the parent’s marriage and move through chil-
ployed “breadwinner,” a member with a major drearing, management of child schooling and
psychosocial disorder (e.g., substance abuse, adolescence, launching of young adults, post-
mental illness), or a deceased family member parenting, and aging. Stress in families is inevi-
whose cultural influence continues to perme- table, but not all family members are impaired
ate families’ thinking and behavior (Seligman & by it (Alvard & Grados, 2005). However, accu-
Darling, 2007). mulated stresses from unmet needs, lack of
Family membership represents a dynamic access to and use of resources, and inadequate
system that changes with time and through- management strategies can impair adaptation
out the lifecycle of a family. This family system and result in a crisis in the family’s functioning
transmits traditions, values, ethnic heritage, (McCubbin & Patterson, 1983; Xu, 2007).
and spiritual or religious beliefs. In turn, tradi-
tions provide members with guidance, strength,
comfort, and strategies for coping with the dif- HOW FAMILIES COPE
ficulties of daily life (Mackleprang & Slasgiver, WITH THE DIAGNOSIS
2009). Beliefs, communications, and interactions
shape the family’s ideological style, relationships, When families are informed of their child’s
and functional priorities. A family’s adherence disability, individual members and families as
to their ethnicity, culture, and religious/spiritual a whole differ widely in their initial responses.
rituals and observances in public and private life This may depend on 1) the severity of their
and socio-economic and educational status—all child’s disability, 2) their preparedness for the
660 Zajicek-Farber
possibility of this occurring, 3) their prior Darling, 2007). Professionals need to deliver
knowledge about the disability including their the diagnosis honestly, with compassion, care-
own beliefs about why their child might be fully choosing their words, and responding to
aflicted with a disability, 4) their experience any questions that parents may have. However,
of interacting with an individual with a similar professionals also need to understand that the
disability, and 5) the health care professional’s questions parents ask at this juncture are likely
manner of delivery of the news (Meet et al., to predominantly reflect the answers they are
2008). The timing, the words used, duration prepared for or emotionally able to hear (Selig-
of verbal exchange, and the emotional support man & Darling, p. 187). Professionals involved
that professionals provide greatly influence the in establishing the diagnosis should provide
family’s response to the news (Bartolo, 2002). parents with a written summary that captures
The impact on the family also depends on their the main points to be understood and schedule
previous life experiences, religious and cultural a follow-up meeting for review of details and
backgrounds, and age of the child at diagnosis answering questions.
(Reichman et al., 2008; Poston & Turnbull, After being informed of a diagnosis, par-
2004). Other factors that may influence their ents usually experience a compelling need for
reactions include family members’ beliefs information (Hornby, 2000). Brinthaupt (1991)
about individuals with disabilities, knowledge suggested that in learning to understand the
of health treatments, and receptiveness to implications of their child’s disability, parents
accepting help from professionals, friends, and experience various intellectual stresses. They
other family members (van der Veek, Kraaij, & may be required to integrate vast amounts of
Garnefski, 2009). In other families, individu- information about physiology, timing and
als who have had previous experiences with a type of treatments, rationale for treatment
family member with a disability may be able approaches, and potential adverse effects and
to adjust more easily to the news, or they may their management (Roland, 2003). Families are
become more distressed depending on that also often faced with managing instrumental
previous experience. Some parents, after years stresses that relate to 1) the financing of their
of searching, may be relieved to finally receive child’s needs, 2) dealing with learning about
answers and help for their child, but they also and administering unfamiliar insurance health
express delayed anger at those who previously policies, and 3) managing the division of labor
reassured them that their child would “grow for providing care for a child with special needs
out of it.” while accomplishing household chores and
attending to the other family members’ needs.
Parental Responses to Families strive to normalize their life despite
the immediate demands posed by their child’s
Diagnosis and Stresses disability, but they come from a wide range
Responding to the news that a child has a disabil- of circumstances that may impinge on their
ity is unique, very personal, and often embedded care. Some families are very knowledgeable
in distress. The most common initial response about their choices and can financially afford
of parents is some combination of shock, denial, to obtain multiple expert opinions and services.
disbelief, guilt, and an overwhelming sense of Other families do not have a good understand-
loss. Some parents deny their child’s diagnosis ing of the health care and educational systems,
and visit various professionals, hoping that the or the means to obtain private fee-for-service
conventional wisdom to “get a second opinion” programs. These problems, often combined
will yield a more optimistic diagnosis or prog- with poverty, can directly affect the well-being
nosis (Sullivan-Bolyai et al., 2004). Based on of both the child and family (Park, Turnbull, &
the complexity of the child’s condition, some Turnbull, 2002).
parents experience several misdiagnoses before Specialized medical/therapeutic services
a correct one is given. Families have additional and equipment, adapted toys and clothing,
challenges when a child who initially develops and alterations to the household environment
typically later acquires a disability. They often can pose substantial financial burdens, which
have a difficult time accepting that prior aspira- are often overlooked until they urgently sur-
tions for their child (and potentially for their face. Using a family-centered care approach
family) may need to be adjusted. in partnering with families involves educating
When professionals withhold or cre- them about their child’s condition, making
ate ambiguity about the diagnosis, this often them aware of the resources and entitlements
enhances the parents’ anxiety (Seligman & available, and helping them examine different
treatment choices. Families who are knowl- in family caregivers and refer them for further
edgeable about available resources and assertive evaluation and treatment as needed (Earls et al.,
in advocating for their child are usually better 2010). Parents’ depression may also be accom-
able to meet their child’s needs (Freedman & panied by anger, which may be directed at a
Boyer, 2000). person, an event, their sense of divine interven-
Along with intellectual and instrumental tion, or life in general. If directed at a person,
stresses, families also struggle with emotional the anger may be focused on the doctor, other
stresses. Uncertainty regarding the diagnosis professionals, the other partner, other children
and the prognosis is a major factor contributing in the family, the child with the disability, or it
to an emotional response to a disability. As the may be self-directed (Heiman, 2002). Regardless
child grows, family responses are subject to peri- of where the anger is directed, it is important
odic exacerbations tied to their child’s transitions to recognize that such expressions are part of a
along developmental life cycle events as well as coping strategy. Anger may well be an appropri-
to unexpected events (e.g., surgeries, new onset ate expression of frustration when parents feel
seizures) that may be tied to the child’s condi- their opinions are not being heard or respected.
tion and health care needs. An uncertainty or However, it may be inappropriately directed at
ambiguity about a child’s diagnosis/prognosis a “safe” target (e.g., the partner) rather than at
can compromise a parent’s sense of control and the person for whom it is felt (i.e., the profes-
create distress (Pollin, 1995). Children’s ongoing sional who communicated the diagnosis). The
manifestation of severe behavior problems (e.g., professional can suggest several evidence-based
hyperactivity, self-injury, aggression) can chal- psychotherapeutic approaches to assist the fam-
lenge parents’ patience and leave them exhausted ily. The two most validated time limited thera-
from the need for heightened supervision and pies are cognitive-behavioral therapy (CBT)
from sleep deprivation. This can place them at (Dobson, 2002) and interpersonal psycho-
risk for posttraumatic stress disorder (PTSD) therapy (IPT; Blanco, Lipsitz, & Caligor, 2001).
(Oberleitner et al., 2006). Parents of children Family therapy can also be effective (Carr, 2000).
with rare disorders may feel particularly isolated Such programs are available specifically directed
as they will not have a community of families at parents who struggle with domestic violence,
dealing with the same condition (Dellve et al., abuse, neglect, or addictions, or live in very
2006). For these families a useful resource is the impoverished environments (Thomas & Zim-
“Readers’ Forum” in the magazine Exceptional mer-Gembeck, 2007).
Parent where such families often share their Accessing support from the family and
experiences (http://www.eparent.com). community environment is critical for fam-
ily well-being (Hastings, 2002). Families who
Parental Depression have strong interpersonal relationships are bet-
It is not unusual that after the initial shock or ter able to meet the challenges they encounter.
denial subsides, some family members experi- Sometimes, however, family or friends may be
ence depression (Reichman et al., 2008). This unable or ill-equipped to provide the needed
can result from emotional stress combined support. The extended family may not accept
with the physical strain (or sheer exhaustion) the diagnosis or may assign blame to one of the
of following through on the many appoint- parents, most commonly to the one unrelated
ments, procedures, recommendations, and care to them. Friends may feel uncomfortable in the
requirements for their child (Ello & Donovan, presence of the child with a disability, and as a
2005). Other factors contributing to depression result, they often stay away. Parents may also be
may be parental or guardian disagreement over embarrassed by their child’s disability and rarely
the meaning of the diagnosis/prognosis, assign- venture into the community. They may find it
ment of blame, sorting through the choice of difficult to see their friends’ typically develop-
treatment options, and/or responsibility in caring children. All of these factors can lead to
ing for the child (Glidden & Schoolcraft, 2003). social isolation.
Women may tend to be more at risk for
depression (Singer & Floyd, 2006) than males Family Coping
when dealing with the news of a child’s diag- With time, most parents are able to cope with
nosis. Symptoms of clinical depression include their child’s disability and recognize posi-
extreme fatigue, restlessness or irritability, tive outcomes from the experience. In many
insomnia, changes in appetite, and/or loss of sex families, the process of raising a child with a
drive. Professionals should screen for depression disability increases cohesion, hardiness, and
662 Zajicek-Farber
compassion among family members. For some, Conducting an assessment of family

it even leads to a more meaningful life (Bittles strengths and needs is important when trying to
& Glasson, 2004). With experience and sup- determine how much assistance might be pro-
port, parents also become experts in meeting vided (Trute & Hiebert-Murphy, 2005). Several
their child’s needs. They develop assertiveness assessment instruments exist for this purpose
in learning to ask for and obtain what is needed including the Family Functioning Style (FFS)
from professionals and agencies. Their resil- scale (Trivette et al., 1990) and the Parents Need
ience and increasing abilities not only protect Survey (PNS; Seligman & Darling, 2007).
but also benefit the child, who may ultimately Considering the many stresses families
advance more than what was originally pre- experience in childrearing, research has found
dicted at the time of diagnosis. that having a strong marital relationship, good
For most families, the sadness lessens as parenting and problem-solving skills, financial
they develop routines for care, gain access to stability, and supportive social networks lead to
early intervention and respite care services, more positive outcomes (Marshak & Prezant,
and begin seeing progress in their child’s devel- 2007; Risdal & Singer, 2004). Although some
opment (Turnbull et al., 2006). The need for parental relationships are strengthened by chal-
enhanced support and/or therapy, however, lenges in raising a child with a disability, others
may recur at various developmental stages. Use deteriorate, especially if the relationship was
of telehealth or electronic and video-based previously troubled (Wieland & Baker, 2010).
communication is rapidly expanding and can be Fostering early assistance through community
effectively used to support families (Oberleitner affiliations and providing effective behavioral
et al., 2006). Parenting networks in which par- interventions in the home increase family func-
ents educate and support one another are often tioning (Poston & Turnbull, 2004).
very powerful and may be even more effective Parents of children with severe develop-
than professional information and support in mental disabilities, chronic behavior problems,
some cases (Kerr & McKintosh, 2000). and/or medical fragility (e.g., requiring tech-
nology assistance to live and function) are at the
LONG-TERM greatest risk for caregiver burnout and impaired
functioning (Ello & Donovan, 2005). Although
EFFECTS ON THE PARENTS
many families with severely impaired children
Research on support to families suggests that do well, some have difficulty finding or accept-
services benefit families when they are deliv- ing support systems for their child (O’Brien,
ered in a family-centered manner and address 2001). As a result, they continue to experience
parent-identified and prioritized issues (King, chronic stress (Wickler, Wasow, & Hatfield,
Teplicky, King, & Rosenbaum, 2004). Dunst, 1981), which can lead to depression, physi-
Trivette, and Deal (1994) have suggested that cal illness, or post-traumatic stress disor-
to promote positive family functioning, service der. When feelings of sadness or grief become
efforts need to chronic and interfere with the parent’s ability
• Focus on family-identified needs, aspira- to function, psychological intervention is indi-
tions, and plans cated (Gordon, 2009). Kazak et al. (2005) con-
tended that professionals need to explore how
• Identify and capitalize on family strengths
the family has dealt with previous stressors and
for harnessing resources
whether family members emerged with a sense
• Strengthen existing social support networks of competence or insecurity.
and identify other potential sources Reframing and normalizing are important
• Use helping behaviors that promote family intervention strategies in helping families cope.
competencies and strengths Normalizing involves communicating that the
• Use culturally sensitive communication emotions and struggles experienced are both
strategies that convey care and empathy normal and expected (Rehm & Bradley, 2005).
This approach from a professional can help
• Promote collaboration in examining differ-
reduce family members’ feelings of isolation
ent treatments and service options
and stigma. Reframing means reinterpreting a
• Be proactive in mobilizing resources behavior or its context by viewing it from a dif-
• Respect families’ decisions for making ferent lens-frame and focusing on the adaptive
choices and positive aspects rather than negative ones
(Hastings & Taunt, 2002). Family-oriented increased appreciation for children with dis-
approaches are particularly effective in alter- abilities, whereas older female siblings showed
ing the counterproductive belief that children increased behavior problems perhaps because
with disabilities should be the sole focus of fam- of being overburdened with child care respon-
ily concerns. When in need, the whole family sibilities. The same study showed that near-
should take part in the intervention, rather than age siblings had less contact with peers, and
the child alone (Seligman & Darling, 2007). younger siblings showed increased anxiety.
There is much research documentation Sibling concerns also appeared to reflect such
regarding how families of children with disabil- situational variables as whether their own needs
ities encounter barriers to access or experience were being met, how the parents were handling
unfamiliarity with community and human ser- the diagnosis emotionally, what the children
vices including special education services and were being told, and how much they under-
health care (Odom et al., 2007). Such difficul- stood. Some more recent studies have also
ties are further compounded by some families’ found an increased risk for behavior problems
lower socioeconomic and educational status. (Ross & Cuskelly, 2006) and social impairment
They may also be affected by the providers’ (Constantino et al., 2006) in siblings, especially
lack of training in providing culturally sensitive in the presence of demographic risks such as
services, or services to individuals with develop- immigrant status and poverty (Macks & Reeve,
mental disabilities. Finally, access may also be 2007). Other studies, however, have reported
limited by a lack of acceptance of Medicaid pay- siblings to be well-adjusted (Hastings, 2007).
ments by the health care providers (Reichard, It is important to remember that chil-
Sacco, & Turnbull, 2004). dren, in general, have mixed feelings about
To ensure that the values, beliefs, and their siblings whether they have a disability or
perspectives of families are considered when not (Schuntermann, 2009). Children may be
conducting assessments and in developing and glad that they do not have a disability but feel
implementing services, Klinger et al. (2007) simultaneously guilty about this feeling. They
recommend that professionals: may worry that they will “catch” the disabil-
• Become knowledgeable about the impact ity or fantasize that they actually caused it by
that race, class, culture, and language have having bad thoughts about their sibling. Ado-
on families’ access to services lescents may question whether they will pass
on a similar disability to their future children.
• Communicate with families and their chil-
Because of the extra care and time required by
dren (with or without disabilities) in their
the child with a disability, the typically devel-
preferred language using interpreter services
oping siblings may think that their parents love
• Communicate in a manner that uses com- their brother or sister more than them. As a
mon (culturally sensitive) lay words and consequence, siblings may misbehave to get
avoids over-reliance on professional jargon attention, or they may isolate themselves, wor-
• Recognize that families may have their own rying about taxing their overburdened parents
individualistic ways of handling things that (Williams, Williams, & Graff, 2003). Giallo and
do not fit one “particular” culture or style Gavidia-Payne (2006) found that parent and
• Make sure that any printed materials are in family factors were stronger predictors of sib-
the families’ preferred language ling adjustment difficulties than siblings’ own
experience with stress and coping. In particu-
• Whenever possible, provide services to lar, family socioeconomic status, management
diverse families within the inclusive context of stress, degree of family time and routines,
of community services problem-solving and communication, and fam-
ily hardiness influenced siblings’ difficulties.
Hence, care must be taken to balance parenting
EFFECTS ON SIBLINGS
efforts so that both children with and without
The siblings of a child with a disability have disabilities are adequately supported.
unique needs and concerns that may vary with Despite these concerns, some evidence
gender, age, birth order, and temperament indicates that siblings of children with dis-
(Stoneman, 2005) as well as genetic predispo- abilities may demonstrate increased maturity, a
sition and family factors (Orsmond & Seltzer, sense of responsibility, a tolerance for being dif-
2007, 2009). A number of years ago, Coleby ferent, a feeling of closeness to the family, and
(1995) found that older male siblings had an enhanced self-confidence and independence
664 Zajicek-Farber
(Meyers & Vipond, 2005; Taeyoung & Horn, given via the parents can lead them to become
2010). Many siblings of individuals with dis- more supportive of the family and better able
abilities choose to enter helping professions to cope with a child’s disability (McCallion,
(Lobato, 1990). Janicki, & Kolomer, 2004).
Siblings of children with disabilities fare But grandparents can also be a strong
best psychologically when their parents’ rela- source of support to the family. They may
tionship is stable and supportive, feelings are provide respite care, help out with household
discussed openly, the disability is explained chores, and provide financial assistance (Trute,
completely, and the siblings are not overbur- 2003). Other extended family members and
dened with child care responsibilities (Lobato friends also can help or hinder the parents’ abil-
& Kao, 2005). Parents must remember that ity to cope. Some may have their own concerns
children observe them closely and take their or beliefs that interfere with their ability to be
lead. Parents’ approach to assuring that all fam- supportive; others may not know what to say or
ily members’ needs are being addressed sets the how to be supportive. In these instances, profes-
tone for the entire family. sionals can suggest ways to discuss these issues
Children should be informed at an early age with family or friends or access other support-
about their sibling’s disability so their knowl- ive social networks (e.g., advocacy groups for
edge is based on fact, not misconception. This their child’s disorder).
education must be done in an age-appropriate
fashion, with the siblings feeling free to ask
questions at any time. By the time the typically
EFFECTS ON THE
developing siblings reach adolescence, parents CHILD WITH A DISABILITY
need to be ready to share with them informa-
tion about genetic counseling, estate planning, Preschool Age
guardianship arrangements, wills, and so forth. In early childhood, the child with a disability
It is helpful for siblings to know what resources may not recognize that he or she is different
and options exist. Some typically developing from other children. Parents, however, closely
siblings may choose to have their sibling with scrutinize their child’s development (Ray,
a disability live with them as adults, while oth- Pewitt-Kinder, & George, 2009). Play serves as
ers may prefer seeking independent or assisted the early learning experience of young children
living arrangements or other choices for their (Myck-Wayne, 2010). Children’s interactions
sibling once their own parents can no longer with family members and peers during play
provide the needed care (Giallo & Gavidia- serves as a preparation for future school inter-
Payne, 2006). actions, and how parents manage those interac-
tions is critical (Guralnick, 2005).
EFFECTS ON THE Parent education regarding the process
and course of their child’s early development
EXTENDED FAMILY
and a referral to early intervention and special
Having grandchildren creates strong feelings preschool services are very important at this
of satisfaction, fulfillment of life’s purpose, joy, stage (Noonan & McCormick, 2006; Chapter
and comfort, but learning that a grandchild has 30). Federal legislation plays a key role in pro-
a disability can lead to mixed feelings (Kolomer, viding services to young children with disabili-
2008). Just like parents, grandparents can har- ties. Part C of the IDEA addresses the specific
bor guilt, assign blame, or even reject the child needs of infants and toddlers with disabilities
(Lee & Gardner, 2010). The quality of the rela- (birth to age 3) and their families, and Part B
tionship grandparents have with their own chil- mandates services for children ages 3–5 (Beirne-
dren affects their acceptance of the grandchild’s Smith, Patton, & Kim, 2006; see Chapter 30).
disability (Kornhaber, 2002). Typically, when Children with disabilities and their parents who
a grandchild is born with a disability, grand- participate in early intervention programs often
parents grieve for their own loss of a “normal benefit from accompanying services (Zajicek-
grandchild” and for their child’s loss. Some may Farber et al., 2011). The focus on providing
experience denial more strongly than do the early intervention leads to interactions between
parents, and their reaction can interfere with parents and (often) multiple professionals to set
the family’s adaptation to the disability (Selig- up an individualized family service plan (IFSP),
man & Darling, 2007). Counseling, support setting the tone for addressing the child’s dis-
groups for grandparents, and/or information ability in the home and the community. This
process, however, can be overwhelming for par- and developing friendships during typical social
ents, and it helps when they work closely with activities (Rogers, Hemmeter, & Wolery, 2010).
the designated service coordinator or social Summer camps that welcome children with
worker on the team. varied needs provide an avenue to develop
important socialization skills and experience
School Age independence from parents (Henderson et al.,
By school age, most children with disabilities 2007). Such participation encourages matura-
are aware of their abilities and challenges and tion and skill development for the child with
may need help in dealing with feelings of being disabilities (Smith et al., 2004). Furthermore, by
different. Obesity in young children with dis- participating in an inclusive environment, chil-
abilities can present additional challenges for dren and staff without disabilities learn more
their immediate social participation and long- about tolerance, acceptance, and what it means
term health (Emerson & Robertson, 2010). to have a disability. In turn they become more
Assessment of mood and affect in children with knowledgeable and caring of people with differ-
developmental disabilities has been a growing ences and less prone to bias (Siperstein, Glick, &
area of importance for their well-being (Leffert, Parker, 2009).
Siperstein, & Widaman, 2010). Full acceptance
of the child’s abilities must first come from the Adolescence
home. If the child is seen as being worthwhile Adolescence is a challenging period for all
and capable by parents and siblings, his or her children and their families because many bio-
self-image is usually positive. This acceptance logical and social changes are taking place. It
includes participating in family activities rang- can be a particularly difficult time for adoles-
ing from family events and vacations to reli- cents with developmental disabilities and their
gious services and community recreational parents (Kim & Turnbull, 2004). For parents,
programs, and if possible, sports or physical adolescence signals their child’s proximity to
play. This acceptance requires that the child’s adulthood and adult responsibilities. It quite
abilities (or lack thereof) are discussed openly naturally elicits anxieties and fears about inde-
and the child is involved in these discussions pendence, self-sufficiency, and maturity espe-
in an age-appropriate fashion. Discussing and cially if the child has a disability (Mitchell &
demonstrating how to handle different situ- Hauser-Cram, 2010). For adolescents, this
ations at home improves the child’s ability to is a period of many discoveries about self and
cope with social situations in the community. others, and many adolescents become preoc-
Seeking input and guidance from teachers or cupied with comparing themselves to their
school staff who interact regularly with the peers (Orsmond, Krauss, & Seltzer, 2004).
child can help identify the child’s strengths and This desire for fitting in and peer approval in
weaknesses in social interactions (Webb, Greco, areas of physical and intellectual development
Sloper, & Beecham, 2008). In order for school may need to be adjusted because of limitations
and community inclusion to work well, how- posed by the developmental disability. Nego-
ever, teachers and school personnel and com- tiating these differences tends to be less of an
munity-relevant persons must be adequately issue if the adolescent with a disability has 1) at
informed and trained about the specific needs least one supportive peer friend (with or with-
of the child (Ross-Watt, 2005). out a disability), 2) a peer group with diverse
The child with disabilities gains self-con- members, 3) parents who actively encourage
fidence through participation in activities in the adolescent’s participation and involvement
which he or she can be successful (Diamond, in activities that promote independence, and/
2001). The philosophy of inclusion is that chil- or 4) him- or herself accepted being “differ-
dren who are differently challenged can parent” (Zajicek-Farber, 1998). For the adolescent
ticipate in general activities, provided there who has just acquired a disability (e.g., from
are appropriate adaptations or assistance. This a traumatic brain injury) or has significantly
approach, however, should not preclude partici- impaired intellectual functioning, there is an
pation in specific (segregated) programs, such increased risk of mood upheavals and behavior
as the Special Olympics, or camp programs difficulties. In these cases individual, group, or
for children who have varied abilities (Cross, family counseling and/or medication should
Traub, Hutter-Pishgahi, & Shelton, 2004). be strongly considered (Kolaitis, 2008). Active
Some children with disabilities need encour- professional vigilance is needed to screen and
agement and assistance in building social skills assess the mental health of adolescents with
666 Zajicek-Farber
disabilities (Emerson, Einfeld, & Stancliffe, disabilities (Blomquist, 2007; Landmark, Ju, &
2010). However, accessing mental health care Zhang, 2010). Brotherson, Backus, Summers, and
that adequately treats such issues can be diffi- Turnbull (1986) identified tasks that are unique to
cult and requires strong parental persistence, families of young adults with disabilities:
positive provider relationship, and access to • “Adjusting to the adult implications of the
financial resources (Scal & Ireland, 2005). disability”
Adolescents with disabilities are at high risk
• Identifying an appropriate residence
for being excluded from typical daily activities,
which in turn influences their emotional well- • Initiating vocational involvement
being. Heah, Case, McGuire, and Law (2007) • Addressing special issues of intimacy, sexu-
found that children with disabilities enjoyed the ality, and procreation
same activities as typically developing children. • Recognizing the need for continuing family
Activities allowing children to experience enjoy- responsibilities
ment (perceived as “fun”) have the best chance
of ensuring children’s engagement and participa- • Managing health- and condition-related
tion. Parents’ ability to encourage and promote needs
the child’s engagement in the activity by their • Managing the continued financial implica-
attitude, emotional responses, and resources tions of dependency
are crucial for the child’s successful participa- • Dealing with limited socialization opportu-
tion. Murphy and Carbone (2008) made similar nities outside of the family environment
observations regarding participation in sports
• Planning for guardianship
and recreational physical activities.
Adolescents with disabilities who remain Although some adolescents with disabilities
more isolated and parent dependent tend do achieve independence, many struggle, and
to have struggles reaching a more indepen- some never attain this goal. For young adults
dent adulthood (Burdo-Hartman & Patel, who cannot achieve true independence a
2008). Therefore, they need to be particularly number of alternatives are available depend-
included in mainstream health promotion ing on where they live, their self-care abilities,
activities including socializations and sex edu- employment and social/recreational activities,
cation (Maart & Jelsma, 2010). They should and finances. A young adult’s ability to cope and
be provided with appropriate material about become as independent as possible depends not
friendships and intimate relationships and only on the degree of the disability but also on
encouraged to discuss issues of sexuality and the effectiveness of the family to plan and man-
emotions in a way and at a level at which they age this transition emotionally and financially,
feel comfortable and can understand. Parents and their ability to access community resources
also need to be encouraged to give their ado- effectively (Wells, Sandefleur, & Hogan, 2003).
lescent with a disability the necessary freedom However, moving into an independent living
to become progressively more independent. situation can become a difficult time for the
This approach requires taking certain reason- family because it disrupts established structures
able risks (Ankeny, Wilkins, & Spain, 2009). and relationships (Albrecht & Devlieger, 1999).
If parents persist in managing their child’s life Turnbull and Turnbull (1993) offer useful
and the disability, they are imparting to the advice to professionals and families in planning
adolescent that he or she is not competent to toward adulthood:
manage independently. Such a well-meaning • Foster decision making and self-determina-
parental approach often results in poor out- tion skills in children with disabilities, start-
comes. When youths with disabilities and ing from the earliest years
their parents are encouraged and supported to • Approach transitions as generic issues by
become actively involved in planning for tran- focusing on similarities among transitions at
sitions, be they educational or in life, they fare various life stages
better (Cobb & Alwell, 2009).
• Focus on family services and supports
throughout the life span, not just during
Young Adulthood early childhood or adolescence
The transition to adulthood is both important • Connect children and families with differ-
and difficult for parents and adolescents with ent adult role models
PRINCIPLES OF FAMILY- invites and establishes a collaborative relation-

CENTERED CARE: ROLE ship based on mutual respect and open com-
munication (Lotze, Bellin, & Oswald, 2010).
OF THE PROFESSIONAL
When such a family-centered relationship is
Table 37.1 lists principles of family-centered forged, families come to see the professionals
care that represent the current philosophy as partners who are flexible in solving problems
guiding the interaction between professionals and in giving constructive feedback. They are
and families of children with disabilities (Epley, also seen as being respectful of cultural diversity
Summers, & Turnbull, 2010). The goal of fam- and able to listen to family needs with empathy
ily-centered care is to facilitate the best possible and compassion (see http://www.familyvoices.
outcomes for both children and their families. org/). Through this shared focus, both families
To achieve this goal, professionals must initiate and professionals appreciate the unique exper-
a process of service delivery and support that tise that each contributes.
Over time, families of children with disabil-
ities encounter a bevy of professionals including
Table 37.1. Professional behavior using principles physicians, nurses, teachers, physical and occu-
of family-centered care pational therapists, psychologists, social workers,
• Demonstrate respect for the child and family in all and agency or hospital administrators. Individu-
types of interactions, including communication. ally and as a group, professionals bear the pri-
• Be knowledgeable about and recognize the mary responsibility for explaining the results of
importance of racial, ethnic, cultural, and socio- developmental evaluations and testing, present-
economic diversity and its effect on the family’s ing treatment options, teaching intervention and
experiences in seeking help and perception of
care and support.
advocacy strategies, and exploring and accessing
• Actively seek to indentify strengths of each child
available support systems. The initial contact
and family, and help the child and family use that families have with professionals often takes
these strengths to promote their natural resilience place when they are stressed, confused, and vul-
and address challenging situations. nerable; and how professionals respond sets the
• Facilitate a partnering climate and time, and tone for future interactions (Ray, Pewitt-Kinder,
encourage the child and family to ask questions & George, 2009). Wright, Heibert-Murphy,
and express their choices about treatment, care,
and support. and Trute (2010) examined professional percep-
• Explore options and potential effects of different tions and organizational factors that support or
choices for treatment and care with both the child hinder the implementation of family-centered
and family. practices. These included the organization’s cul-
• Assist the family in obtaining interdisciplinary ture and climate (e.g., caseload size and activity,
input and coordination of care regarding options supervision, staff training), policy limitations,
for treatment and support services.
and availability of collateral services. All these
• Ask about barriers or challenges the child and
family may be experiencing in their psychosocial
factors can affect the successful implementa-
adjustment to treatment, care, or receipt of sup- tion of family-centered services. Sloper, Greco,
port. Beecham, and Webb (2006) found that when
• Provide and share with the child and family the the case worker provided emotional support,
types of available formal and informal sup- information, assistance in identifying and meet-
port services that might be helpful for ensuring ing needs, advocacy, and service coordination,
healthy child and family functioning during critical
and transitional developmental periods. and when there were increased contact hours
• Encourage the child and family input and advo- between the worker and the family, outcomes
cacy in all forms of professional interaction and improved. Hiebert-Murphy, Trute, and Wright
education and the development of policies for (2008) found that family-centeredness in coor-
treatment and program interventions. dinating services significantly decreased the fam-
• Ensure flexibility in developing organizational ily’s need for additional psychosocial supports.
policies and procedures and providers’ practices
so that all services can be individualized to the
Professionals need to be flexible and
diverse needs, beliefs, and cultural values of responsive in coordinating efforts with the fam-
each child and family. ily and other professionals. As a result of their
• Strive to collaborate and partner with families at training, experience, and expertise, profes-
all levels of health care service delivery. sionals often have strong opinions about what
Sources: Johnson and Eichner (2003); National Center for is best for the child and family. Yet, they must
Medical Home Implementation (n.d.); and National Early remember that individuals with disabilities and
Childhood Technical Assistance Center (n.d.). For more
information, see http://www.medicalhomeinfo.org and their families have the right to choose their own
http://www.nectac.org. path. If a family encounters difficulties along the
668 Zajicek-Farber
way, members can always turn to professionals Although laws are important, they need to
for further assistance to accomplish their goals. be accompanied by a change in the public’s per-
Families who make their own choices are self- ception and attitudes toward individuals with
sustaining (Seligman & Darling, 2007). The disabilities. Signs of such change seem to be
inclusion of families as active decision-makers in emerging. Young adults who have grown up in
clinical care is becoming more readily accepted; schools with children with disabilities are more
however, more needs to be done for their inclu- sensitive to and appreciative of their needs and
sion in health care policy (Goldfarb et al., 2010). abilities. More individuals with disabilities are
In partnering with families, the profes- in the workforce. They are seen in movies,
sional must take action, however, when the on television shows, advertisements, and in
choices the family makes are perceived as the news. Adaptive and assistive technologies,
potentially deleterious to the child’s well-being. including the use of universal design, are slowly
For example, it is the professional’s responsibil- removing barriers and increasing overall soci-
ity to inform the family of the risks and benefits etal integration of individuals with diverse abili-
of validated and nonvalidated therapies, while ties (Burgstahler, 2005). Although society has
respecting the family’s autonomy. The one made itself more accessible to and supportive of
exception is when it is believed that the family’s individuals with disabilities, the future remains
actions may be harmful to the child. The pro- challenging.
fessional must then contact the local child wel-
fare agency (child protective services) to report
the professional’s suspicion or knowledge of SUMMARY
abuse or neglect. As a family moves through its life cycle, its
members face many challenges and changes.
THE ROLE OF This journey is particularly challenging for
SOCIETY AND COMMUNITY families of children with disabilities. The child,
parents, siblings, extended family members, and
The family’s social context plays an important friends are all affected and may initially undergo
role in determining the outcome of its mem- periods of grieving and disappointment for
bers. Fortunately, in today’s society there is their loss of a chance of a “normal life” for their
greater appreciation for people with disabilities. child. Over time, the family’s coping strategies
There are more educational, vocational, hous- generally improve. Parents learn to master the
ing and support services available. Federal leg- child’s care and to advocate effectively for nec-
islation guarantees equal opportunities for all essary medical, education, and other services.
members of society. Federal funding provides The child learns to cope with the disability at
for a protection and advocacy system for people school and in the community and to become a
with disabilities in each state. The Individuals self-advocate. Working closely with the parents
with Disabilities Education Improvement Act and child in a family-centered approach, the
of 2004 (IDEA 2004; PL 108446) mandates social worker, therapists, teachers, and physi-
free and appropriate educational and rehabilita- cians can play a crucial role in promoting these
tive services for school-age children. Reaching adjustments and may be instrumental in deter-
citizens of all ages with disabilities, the Ameri- mining the prognosis of the child and the out-
cans with Disabilities Act (ADA) of 1990 (PL come of the entire family.
101-336) focuses on the establishment of rights
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38 Complementary and
Michelle H. Zimmer

■ Be introduced to the concept of complementary and alternative
medical (CAM) therapies
■ Become aware of the different types of CAM
■ Be knowledgeable about some of the more common CAM therapies
and how they have been used in treating children with developmental
and related disabilities
Complementary and alternative medicine (CAM) significantly higher rates of use among patients
therapies have been increasingly utilized in the with chronic medical conditions. When consid-
treatment of children with developmental dis- ering the group of children with developmen-
abilities, with over half of these children receiv- tal disabilities, estimates of CAM use are much
ing at least one form of CAM (see below). higher than in the general pediatric popula-
The National Center for Complementary and tion, ranging from 50%–70% (Ball, Kertesz, &
Alternative Medicine (NCCAM) defines CAM Moyer-Mileur, 2005; McCann & Newell, 2006;
as a group of diverse medical and health care Sanders, Davis, Duncan, Meaney, Haynes,
systems, practices, and products that are not & Barton, 2003). For specific disabilities, the
presently considered to be part of conventional prevalence of CAM use has been studied in
medicine. Complementary medicine is used children with attention-deficit/hyperactivity
together with conventional Western medicine, disorder (ADHD), autism spectrum disorders
while alternative medicine (e.g., Chinese and (ASD), cerebral palsy (CP), and Down syn-
Indian medicine) is used in place of conven- drome. Reports of CAM use among children
tional medicine. Integrative medicine refers with ADHD range between 28% and 67%,
to a practice that combines conventional and depending on the definition of CAM (Gross-
types of CAM treatments for which there is evi- Tsur, 2003; Sinha & Efron, 2005). Estimates of
dence of safety and effectiveness (http://nccam. CAM use among children with ASD are par-
nih.gov). ticularly high, ranging from 52%–95%. (Han-
In 2007, the Centers for Disease Control sen, Kalish & Bunce, 2007; Harrington, Rosen,
and Prevention (CDC) reported that nearly Garnecho,& Patrick, 2006). Data is sparse
12% of all children had participated in some regarding the use of CAM among children with
form of CAM in the last 12 months, with Down syndrome. The few studies that have
673
674 Zimmer
examined the issue report rates of CAM use as children and children with ADHD (Kemp, 2008).
high as 87% (Prussing, Sobo, Walker, Dennis, No study of this diet in children with autism has
& Kurtin, 2004). Among children with cere- been published. Sugar restriction is a common
bral palsy, Samdup, Smith, and Il Song (2006) dietary change made by families of children with
reported that severity of CP was positively cor- ADHD. The research literature, however, sug-
related with higher CAM use. Hurvitz, Leon- gests that restricting sugar from the diet does not
ard, Ayyangar, and Nelson (2003) studied CAM significantly improve symptoms of ADHD and
use among children with CP and estimated its is not necessary for the vast majority of children
prevalence at 56%. with this condition (Wolraich, Wilson, & White,
1995).
Evidence of Vitamins/Supplements
Treatment Efficacy Dietary supplements for children with disabili-
NCCAM categorizes complementary and ties are numerous and beyond the scope of this
alternative medicine into four broad categories: review. Many supplements, such as multivita-
1) biologically based practices, which include mins and vitamin C, while having unclear health
nutrition, medicinal herbs and dietary supple- benefits, are safe and most health care workers
ments; 2) mind-body medicine, including do not discourage their use. Other supplements,
practices such as meditation that focus on the such as megavitamin therapy (dosage more than
interactions among the brain, mind, and body, 1,000 times the daily requirement), chelation
to affect health and behavior; 3) manipulative therapy (the use of an oral, intravenous or topi-
and body-based practices such as massage; and cal medication to remove metal from the body),
4) energy-based practices such as acupuncture and antifungal treatments (prescription medica-
(http://nccam.nih.gov). tions such as nystatin) carry a significant risk of
side effects and potential for harm, and their use
Biologically Based Practices should be discouraged. Melatonin, a naturally
occurring hormone that has been promoted as
Diets an over-the-counter remedy for jet lag, is one
Various dietary changes and restrictions have been dietary supplement for which there is substantial
suggested to treat symptoms of developmental evidence of efficacy for improving sleep onset in
disabilities, most commonly for children with children with disabilities. Several small clinical
ADHD and ASD. The gluten-free—casein- trials demonstrated benefits in reducing time to
free diet, which involves removing all wheat and sleep onset (also called sleep latency) in children
milk products from a child’s diet has been studied with ASD (Andersen, Kaczmarska, McGrew, &
in children with ASD, and although commonly Malow, 2008; Garstang & Wallis, 2006), devel-
used, research does not support its effectiveness opmental disabilities (Phillips & Appleton, 2004;
(Elder, Shankar, Shuster, Theriaque, Burns, & Wasdell, Jan, Bomben, 2008), and fragile X syn-
Sherrill, 2006; Johnson, Handen, Zimmer, Mayer drome. (Wirojanan, Jacquemont, & Diaz, 2009)
Costa, & Sacco, 2011). Removing milk products
from the diet carries a risk of inadequate intake Hyperbaric Oxygen Therapy
of vitamin D and calcium. There is some data Hyperbaric oxygen therapy (HBOT) uses com-
to suggest that children on the autism spectrum pressed oxygen chambers to treat specific medi-
have lower bone density than typically develop- cal illnesses such as carbon monoxide poisoning
ing children (Hediger, England, Molloy, Yu, (e.g., from the bends in rapid ascent from deep-
Manning-Courtney, & Mills, 2008); some have sea diving or from a malfunctioning furnace).
hypothesized that this is due, at least in part, to Hyperbaric oxygen saturates tissues with oxy-
avoidance of milk products. The Feingold diet gen and proponents state that this higher tissue
is a controversial diet for children with ADHD availability of oxygen can reverse neurologic
or autism. It involves removing synthetic colors, damage. HBOT is available only via prescrip-
flavors, artificial preservatives, salicylates, and tion and in some outpatient clinics of alternative
sweeteners from the diet. A typical Feingold diet medical providers. However, families have been
would exclude sodas, many common snack foods, known to purchase HBOT chambers for their
and even many fruits which are high in salicylates personal use at the cost of thousands of dollars.
such as raisins, berries, and grapes. Although con- Frequent hourly treatments (40 or more treat-
troversial, there is some European data suggesting ments) are recommended by their practitioners
that this diet reduces hyperactivity in both typical and cost between $100–250 per treatment. Use
Complementary and Alternative Therapies 675
of HBOT has been reported in children with sessions are conducted over several months and
Down syndrome, ASD, and CP; however, the can be rather costly. The American Academy
scientific evidence for its effectiveness in these of Pediatrics (1999) has not endorsed its use for
conditions is completely lacking. Critics of this children with ASD, and states in their literature
and other CAM practices also have raised con- review of this topic that significant methodologi-
cerns about the opportunity cost of spending cal flaws exist in all studies in this area.
time and money engaged in unproven therapies
rather than in therapies that have proven effi- Music Therapy
cacy. HBOT also has inherent risks, such as the Music therapy is delivered by a therapist who
potential of tympanic membrane rupture due to uses musical experiences to engage the child
high air pressure and an increased risk of sei- in a relationship on focused dyadic exchange
zures (McDonagh, Morgan, Carson, & Russ- surrounding rhythm tones and music tailored
man, 2007). HBOT is generally discouraged to the child’s individual preferences. Only case
by health care professionals due to its lack of reports and preexperimental designs have eval-
demonstrated positive outcomes and potential uated this therapy in children with disabilities.
for financial and medical harm. No study with control groups or experimental
designs has assessed the utility of this therapy.
Mind–Body Practices
Manipulative/Body-Based Practices
Biofeedback/
Electroencephalogram Biofeedback Massage Therapy
Biofeedback/Electroencephalogram (EEG) bio- Massage therapy is a body-based practice that
feedback is a mind-body therapy that provides promotes a relaxation response and tissue heal-
information about physiologic processes such ing. There is abundant evidence in the adult
as heart rate, blood pressure and skin tempera- literature for the value of massage for anxiety
ture, with the goal of gaining control over these reduction and relief from pain. In the disabil-
processes to improve mental functioning and ity literature there is some evidence to support
performance. Biofeedback equipment involves a its utility in alleviating symptoms of ADHD
computer screen, a finger temperature monitor, (Khilnani, Field, Hernandez-Reif, Schanberg,
and a heart rate sensor. The goal is to induce the 2003; Maddigan et al., 2003), in promoting
child’s own relaxation response. As “coherence” sleep and decreasing repetitive behavior in
is achieved (meaning more regular breathing, ASD (Escalona, Field, Singer-Strunck, Cullen,
lowered pulse rate), the child receives immedi- Hartshorn, 2001; Silva, Schalock, Ayres, Bunse,
ate feedback on the computer monitor that he or & Budden, 2009), and improving motor func-
she is succeeding in the relaxation exercise. Bio- tion in children with CP (Macgregor, Camp-
feedback/EEG biofeedback as a treatment for bell, Gladden, Tennant, & Young, 2007). In
children with ADHD (Arns, de Ridder, Strehl, sum, massage is a safe practice that has some
Breteler, & Coenen, 2009) and ASD (Coben promise in alleviating problematic symptoms of
& Padolsky, 2007) has been considered contro- certain developmental disabilities.
versial but is gaining an evidence base for effi-
cacy. Methodological issues exist in most of the Craniosacral Therapy
biofeedback/EEG biofeedback studies, but the Craniosacral therapy is a practice in which the
promising results of preliminary studies make therapist “senses” waves of spinal fluid and
this an area that warrants further investigation applies gentle touch to manipulate these flows.
and consideration as a complementary therapy. Although parents may pursue this as a treat-
ment for their child, no controlled studies have
Auditory Integration Training evaluated the effectiveness of this therapy in
Auditory integration training is a therapy in children with disabilities. It may be that the
which children who have a “sensory integration “spa’s” therapeutic environment during the ses-
disorder” are screened for sound sensitivities and sion lends some relaxation benefits, but this is
then delivered a tailored program of auditory yet to be explored in controlled studies.
input that filters out the sound frequencies to
which they are sensitive. It should be noted that Osteopathy
sensory integration disorder itself is not a recog- Osteopathic treatments involve physical manip-
nized medical term but is often used in describing ulation of joints, muscle, bone and fascia (con-
children with ASD. Auditory integration training nective tissue) to aid the recuperative powers of
676 Zimmer
the body. Osteopathic manipulative treatment studied children with intellectual disability who
(OMT) has been reported to improve motor engaged in regular yoga practice and found that
function and quality of life in children with cere- it increased cognitive performance. Jensen and
bral palsy (Duncan, McDonough-Means, Wor- Kenney (2004) reported on a small controlled
den, Schnyer, Andrews, & Meaney, 2008). trial of yoga in ADHD children whose symp-
toms were stable on medication; yoga showed a
Chiropractic positive effect on hyperactivity.
Manipulation of the spine has been used to
treat a variety of pediatric medical conditions. Sensory Integration Therapy
However, the rationale for its use in treating Sensory integration therapy involves exposing
core symptoms of most developmental disabili- the child to a series of sensory-based experi-
ties has not been established scientifically. Rare ences such as swinging, joint compressions,
adverse events have occurred with spinal adjust- brushing, holding, and squeezing. These expe-
ments, including subarachnoid hemorrhage, riences are designed to address the observed
quadriplegia, and vertebral dislocation (Vohra, hypo- and hyperresponsiveness to sensory
Johnston, Cramer, & Humphreys, 2007). The stimuli often seen in children with disabilities.
cervical spine in children may be particularly Although a few articles have been written about
vulnerable to injury. Patients with chronic these therapies, no large double blind clinical
motor disabilities and Down syndrome should trial exists. Although this therapy is safe, behav-
be warned of these potential risks. ior problems seen in children with sensory
integration problems must still be handled with
Hippotherapy appropriate behavioral reinforcement strategies
Hippotherapy or horseback-riding therapy uses and not merely attributed to their problems
the core strength as well as gross and fine motor with handling sensory input.
balance and coordination skills to improve
physical functioning of children with disabili- Energy-Based Practices
ties. Cherng (2004) noted improvement in
Acupuncture
gross and fine motor functioning of children
with CP who engaged in a 16-week hippother- Acupuncture is an ancient energy-based therapy
apy program. that restores flow of energy (called Qi) between
meridians in the body. There is a growing lit-
Patterning erature supporting its use in chronic pain con-
Patterning is a movement therapy based on the ditions. Zhang, Liu, Wang, and He, (2010)
principles that brain injury can be overcome by published a meta-analysis of the utility of Tra-
teaching the young “plastic” brain the develop- ditional Chinese Medicine in treatment of CP
mentally normal sequence of motor activities. and found that there is some evidence that acu-
These movements are passively facilitated by a puncture increases global physical functioning in
therapist who delivers frequent intensive therapy patients with CP who utilize acupuncture versus
to retrain the brain. This involves multiple peo- no treatment or a sham acupuncture treatment.
ple manipulating the child’s limbs and positions Acupuncture is a safe therapy that could be con-
for many hours each day. But open trials of pat- sidered as part of a comprehensive treatment
terning have failed to demonstrate a benefit of plan focusing on enhancing functioning.
this therapy (James, Kolt, McConville, & Bate,
1998). The large financial and opportunity cost APPROACHES TO
makes this therapy suspect, and families should ADVISING FAMILIES
be counseled about the lack of evidence to sup-
port the utility of this treatment.
ABOUT complementary
and alternative medicine
Yoga
Given the common use of CAM therapies for
Yoga is an ancient body-based practice that com- children with disabilities, traditional health care
bined postures, breathing work, and meditative providers are challenged with balancing the
practices to achieve a sense of well-being and desire to support parents’ decisions regarding
physical health. There is some limited evidence their child’s treatment with providing evidence-
to support the use of this practice for certain based medical advice. These challenges can be
developmental disabilities. Uma, Nagendra, managed effectively by incorporating principles
Nagarathna, Vaidehi, and Seethalakshmi (1989) of family-centered care and shared medical
decision making into these types of patient It is important to make parents aware of alter-
encounters. Family centered care is an approach native therapies early on in the diagnosis. The
to health care that is based on mutual respect practitioner should provide families with list of
which promotes optimal health outcomes and resources that include parent support groups,
treatment adherence by encouraging shared reliable web sites, and books and review articles
decision making in daily patient interactions. that present balanced discussions of CAM. This
The American Academy of Pediatrics (2001) can build trust in the provider–patient relation-
endorses the use of shared medical decision ship and lead to a discussion of how to critically
making as a way to promote treatment adher- evaluate these treatments.
ence for children with chronic illness. After openly listening to the family’s con-
Shared medical decision making for use cerns and interest in a given CAM treatment,
of CAM treatments implies that the health the practitioner has a basis to transition into
care provider becomes expert enough about teaching the family about applying the prin-
the potential risks and benefits of the proposed ciples of evidence-based medicine to evaluate
treatment to participate in the decision making the treatment. Evidence-based medicine refers
process as a medical expert. For many practi- to the practice of evaluating the strength of
tioners, training in CAM therapies is limited at scientific evidence behind a proposed medical
best, and this may hinder or even prevent pro- treatment. Many CAM therapies have no sci-
vider-patient communication and subsequent entific evidence behind them or use anecdotal
decision making around these issues. However, reports as evidence of efficacy. Others have
health care providers may be able to give a good some research support that has yet to be rep-
deal of guidance to families regarding medical licated or are supported by studies with sig-
decision making around CAM treatment by nificant methodological flaws that prevent the
advising families on how to scientifically evalu- study’s acceptance by the mainstream medical
ate a potential treatment. This approach does community. The National Institutes of Health
not require expertise about a particular herb, provides parent-friendly information regarding
supplement, diet or therapy, but rather facili- how to evaluate the scientific validity of a par-
tates a discussion about the treatment. ticular CAM treatment at http://nccam.nih.gov.
The shared decision making approach also Of great concern is the fact that some
encourages provider–patient communication. CAM websites actively discourage parents from
It is well-known that families frequently do not considering evidence-based medicine in their
disclose CAM use to their child’s health care decision making process, saying that these types
provider. It is also true that many families who of studies are only necessary for potentially
suspect an ASD diagnosis in their child have harmful treatments, not natural treatments. It
implemented one or more alternative treat- is important for physicians to inform families
ments while they are waiting for an appoint- that the distinction between natural and manu-
ment with a specialist to confirm the diagnosis factured pharmaceuticals is not so clear. Many
(Levy, Mandell, Merhar, Ittenbach, & Pinto- effective medications come from natural plant
Martin, 2003). Families may resent the fact sources and all pharmaceuticals, natural or not,
that their health care provider does not provide have potential side effects.
them with information about alternative treat-
ments when they are so readily available from
SUMMARY
other sources such as the Internet.
The provider might open the door to Despite the lack of supporting evidence, CAM
discussions about CAM by actively asking the therapies are used as part of the treatment regi-
following questions during the course of the men for the majority of children with develop-
medical history: Is your child taking any medi- mental disabilities. Yet, the typical health care
cations? Have you considered, or is your child practitioner has received little if any training
currently taking any vitamins, supplements, in the use of CAM modalities. Clear informa-
herbs, or on any special diet restrictions? Is tion about the potential benefits, the evidence
your child participating in any therapies in addi- base, and the potential side effect profile of the
tion to conventional ones that include physical, specific CAM therapy is important informa-
occupational, and speech-language therapy? tion to relay to families who are pursuing these
This might include massage, acupuncture, or sometimes time consuming and financially
sensory integrative therapy. draining therapies. The health care practitioner
Receiving the responses nonjudgmentally should communicate this information to fami-
is a good way to begin these types of discussions. lies in a way that is open and nonjudgmental.
678 Zimmer
Serious safety concerns or health risks of CAM Gross-Tsur, V. (2003). Use of complementary medicine
approaches also must be clearly communicated. in children with ADHD and epilepsy. Pediatric Neu-
rology, 29, 53–55.
The health care practitioner must always keep Harrington, J.W., Rosen, L., Garnecho, A., & Patrick,
the “do no harm” principle in the forefront P.A. (2006). Parental perceptions and use of com-
of decision making around CAM therapies. plementary and alternative medicine practices for
This approach opens the lines of communica- children with autistic spectrum disorders in private
practice. Journal of Developmental Behavior Pediatrics,
tion with families and it displays respect and
27, S156–S161.
understanding of the families’ need to explore Hanson, E., Kalish, L.A., & Bunce, E., (2007). Use
alternatives or complementary approaches to of complementary and alternative medicine among
treating their child’s developmental disability. children diagnosed with autism spectrum disorder.
Journal of Autism Development Disorders, 37, 628–631.
Hediger, M.L., England L.J., Molloy, C.A., Yu,
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39 Ethical Considerations
Kruti Acharya, Michelle Huckaby Lewis, and Peter J. Smith

■ Become familiar with medical ethical issues concerning children with disabili-
ties, such as informed consent and assent, prenatal diagnosis, genetic testing
and screening, withholding of treatment, and human subjects research
■ Learn the vocabulary of pediatric ethics, including language related to parental
rights and the best interest of the child
■ Understand the differences and similarities between ethical decision making
and legal requirements
■ Be cognizant of ethics committees and the availability of ethics consultations
Given the diversity of cultures and perspectives and beliefs that may exist within families. The
within American society, there is an increas- physician’s moral obligation to families in these
ing need to integrate the fields of clinical care, cases is not always clear, especially in the care
medical research, law, and ethics with the diverse of children with disabilities. Heightened emo-
beliefs and values inherent within families and tions about a child’s disability may make deci-
physicians regarding children with developmen- sion making particularly difficult. Professional
tal disabilities. All of these fields play a role in codes of conduct have been developed to help
the decision-making processes of both parents guide physicians and other medical personnel
and practitioners. Many of the ethical and legal in resolving these conflicts, but these codes do
issues facing parents of children with disabilities not provide obvious answers in all situations.
today have resulted from significant advances in Several different ethical frameworks have
medical technology. In this chapter the ethical been used to assist health professionals in the
paradigms and dilemmas faced by physicians and resolution of these ethical dilemmas. One
families will be discussed as well as points of con- example is the principle-based framework in
cern to be included in decision-making processes. which the four principles of biomedical ethics
provide moral guidance to health care practitio-
ners. These are respect for autonomy, nonma-
Basic Ethical Principles
leficence, beneficence, and justice (Beauchamp
The practice of medicine is not an exact science. & Childress, 2001; National Commission for
Health professionals are faced at times with the Protection of Human Subjects of Biomedi-
situations that highlight the conflicting values cal and Behavioral Research,1979).
681
682 Acharya, Lewis, and Smith
Respect for autonomy refers to respecting care of children with disabilities are in a posi-
the decision-making capacities of autonomous tion to advocate for these children’s needs.
(self-determining) persons. Children are not In the consideration of moral dilemmas,
considered autonomous persons in this regard, no single principle has priority, and no single
but their parents possess the legal and moral principle may override all other moral con-
authority to make decisions on their behalf. siderations. Rather, these principles should
Parents are required to act in the best inter- be used to evaluate a moral dilemma, and the
ests of their children and are considered to be appropriate weight that should be given to each
in the best position to do so. Informed consent principle under the circumstances should be
must be obtained from a child’s parent or legal considered carefully.
guardian in order to treat a pediatric patient.
This ability to grant permission for their chil-
dren’s care is grounded in the concept of respect
The Relationship
for persons and should be honored in all but between Law and Ethics
extraordinary circumstances (e.g., following an While law and ethics are related, they are not
auto accident when the child and parent may synonymous. In some circumstances, consider-
be unconscious and unable to give consent for ation of whether a proposed course of action is
acutely needed treatment). legal may not answer the question of whether it
Nonmaleficence refers to the avoidance of is ethical (e.g., performing a hysterectomy on a
harm, the principal behind the Hippocratic teenager with profound intellectual disability).
oath, which all physicians swear to observe. Conversely, a practice that may be considered
Inherent in this concept is the obligation not ethical by some may not be within the bounds
to harm others. This principle supports more of the law (e.g., euthanasia).
specific rules that prohibit killing, causing Many current laws regarding bioethical
pain or suffering, or causing incapacitation. issues have been enacted in response to novel
This principle is often invoked in discussions bioethics issues. For example, the Baby Doe
regarding whether to withhold or withdraw Amendment (1984) extended the federal defini-
care. It is central to the debate about distinction of child abuse to include the withholding
tions between “killing someone” versus “let- of medical care to seriously ill newborns unless
ting them die.” the provision of such care would be “virtually
Beneficence refers to providing benefits and futile.” This legislation was enacted in the 1980s
also to balancing benefits against risks. This after the death of a baby with Down syndrome
principle requires health professionals to take resulting from the parents’ decision to decline
active, positive steps to help others. The prin- lifesaving and fairly straightforward surgery to
ciples of respect for autonomy and beneficence repair a gastrointestinal condition common to
may be in conflict when paternalistic views Down syndrome.
affect medical decision making. Many physi- Ethical obligations typically are thought
cians consider their primary obligation to be to to exceed legal duties. Under this principal
their patient’s medical benefit and not equally when health care providers believe that a law
to encourage autonomous decision making by is unjust, they should work to change the law
parents. This conflict can be problematic. (American Medical Association, 1994). In
addition, health care personnel have a respon-
Justice sibility to be aware of laws that govern their
This concept refers to the fair distribution of care of children, such as laws requiring health
benefits, risks, and costs. Issues of social jus- care providers to report suspected child abuse
tice are particularly salient with respect to the to the appropriate authorities and laws that
care of children with disabilities. An increasing may be used to intervene in parental health
number of infants with severe disabilities are care decisions that could harm their child.
surviving into childhood and adulthood, placing Respect for autonomy and nonmaleficence
increased demands upon the resources avail- most clearly correspond to legal duties as cur-
able for their care and treatment (McCullough, rently understood in modern culture. How-
2005). Children with severe disabilities are seen ever, not all the principles are even part of
by some people as being less worthy of the con- legal considerations; for example, the entire
sumption of scarce health care resources (Sav- principle of beneficence is usually not consid-
age, 1998). Health practitioners involved in the ered a legal duty. Also, the concept of justice,
Ethical Considerations 683
although key to a general understanding of the ETHICAL DILEMMAS

structure and foundation of legal duties, does
not always enter into specific cases or disputes Prenatal Testing—
between individual parties. Physician versus Parental Views
Unique Aspects of Pediatric Ethics
■ ■ ■ Mr. and Mrs. Jones
The care of children presents health care
practitioners with ethical dilemmas unique to At a routine 20-week prenatal ultrasound, Mr. and
pediatrics. Although many of the ethical issues Mrs. Jones were told, “Something may be wrong
involved in the care of children are similar to with your baby, and we want to do an advanced
those that arise in the care of adults, pediatric ultrasound.” Concerned by the possibility of a
care involves additional ethical questions, such condition that would require immediate interven-
as pediatric assent and issues related to the
tion, they agreed. The test was actually ordered
beginnings of life.
by the obstetrician to exclude Down syndrome
Pediatric Assent since calcifications in the baby’s heart, a sign sug-
gestive of the disorder, were noted on the ini-
A competent adult has the legal right to deter-
mine which medical intervention he or she will tial ultrasound. The subsequent test showed no
accept. In situations in which an adult patient congenital heart defect, but other findings were
is judged not competent to make autonomous strongly suggestive of Down syndrome. Upon
medical decisions, the court designates a sur- learning that the test had been done princi-
rogate to make these decisions for the patient. pally to diagnose Down syndrome, Mr. and Mrs.
In this context, significant value is placed on Jones, who had refused first trimester screening
the previously expressed desires and/or val- for Down syndrome as they would not consider
ues of the patient, if known. In contrast, in termination, were upset about the time, anxiety,
pediatric settings, the patient has never been and expense of the additional testing.
autonomous and has never possessed legal
decision-making authority. Rather, through a Parental decision making about prenatal
process known as pediatric assent, the child testing is complex. It is based both on medical
participates increasingly as he or she matures facts and moral judgments. In the above exam-
in the decision-making process. Yet, a child’s ple, the physician and parents had differing value
developmental ability to participate in medical systems informing their assumptions about the
decision making is difficult to measure and will treatment plan. The physician subscribed to the
vary among children of similar chronological medical model of disability. He viewed Down
ages, depending upon each child’s unique cir- syndrome as equivalent to “a medical disorder,”
cumstances. For children with disabilities, the even in the absence of congenital malforma-
child’s cognitive or physical impairments may tions. From his perspective, the possibility of
limit his or her ability to participate in this Down syndrome required a definitive answer,
decision-making process. warranting the additional prenatal testing. The
physician believed he was acting in accordance
Health Care Professionals as Advocates with the principle of beneficence. For the par-
In general, parents are given the legal author- ents, however, learning prenatally whether or
ity to make medical decisions on their child’s not their child had Down syndrome was not a
behalf. This legal authority is based upon the priority, unless it would influence treatment. In
premise that parents are in the position to contrast to the medical model of disorder, they
make decisions in the best interest of their did not view having a child with Down syndrome
child. Parental authority is not unlimited, as equivalent to having a child with a medical dis-
however. If parents do not make decisions in order or a challenge to their hopes for a healthy
their child’s best interest, the child’s physi- baby. Even though the physician viewed the test-
cian, therapists, educators, caregivers, and so ing as a benefit, the parents viewed the additional
forth have a legal and ethical obligation to testing as harmful, against the principle of non-
advocate for the child, providing an additional maleficence.
safeguard for the care of the child (American Mr. and Mrs. Jones affirm the perspec-
Medical Association, 2008). tive of disability rights, arguing that Down
syndrome, like all developmental disabilities, nursing assistant that their new baby is required
comprises only one aspect of an individual, and to have a blood test performed. The nursing
that decisions should be made about the person assistant tells the parents that all babies have
as a whole and not based on this one charac- the test before leaving the hospital, but she is
teristic. Other parents may hold different views unable to answer any questions about the pur-
about disability, and for them prenatal testing pose of the test. The parents are upset when
would have been very important. In Mr. and
their baby cries during the heel stick procedure
Mrs. Jones case it would have been better for
and they don’t understand why it’s being done.
the physician to explain specifically his reason
for doing the ultrasound and whether it would Newborn screening (NBS) testing is per-
have any therapeutic implications. A discussion formed on virtually all of the 4 million babies
would have better respected parental autonomy. born annually in the United States. Most states
Any physician–patient dialogue about prenatal require mandatory newborn screening, but
testing should present balanced information the public health justification of mandatory
about the rationale for testing so that the deci- newborn screening has come into question
sion is informed by the parents’ religious, spiri- in recent years. Originally, newborn screen-
tual, or value systems (Munger, Gill, Ormond, ing testing, commonly called the “PKU test,”
& Kirschner, 2007). was performed to prevent the devastating con-
In 2000, the Hastings Center convened a sequences of a few heritable metabolic condi-
working group to determine for which conditions, such as phenylketonuria (PKU). Only
tions prenatal screening is ethical. The group’s conditions for which effective treatment was
conclusions were 1) prenatal diagnosis was ethi- available were included (see Chapter 19).
cally permissible for conditions with mortality in Each state determines which disorders to
childhood; and 2) there was no consensus on the include in the state’s newborn screening panel.
ethical permissibility of prenatal testing for all Until recently, wide variability existed amongst
other conditions; thus, parents could choose to states regarding which disorders were included
pursue or reject prenatal testing based on their in state newborn screening panels. This state-
own values (Parens & Asch, 2007). Since 2000, by-state variability led to obvious disparities
however, there has been a tremendous explo- and to calls by parent advocacy groups to cre-
sion in the number and types of prenatal screen- ate national newborn screening standards.
ing tests that are performed (see Chapter 14). This became more of an issue with the recent
There has not been a corresponding increase in development of tandem mass spectrometry,
resources for families to help them understand which permits the testing of dozens of disor-
these tests, which has lead to a dramatic and ders instead of just a few. As a result, in 2005,
unfortunate shift away from the prior consensus a working group convened by the American
for balance in these discussions. The de facto College of Medical Genetics recommended a
experience for most families, like that of the uniform newborn screening panel. This panel
Jones family, is that these are seen as “needed” included 29 core conditions and 25 secondary
tests for “disorders” and not the socially con- conditions that would be discovered inciden-
structed odysseys that they truly are. tally in the screening for the core conditions. As
It must be acknowledged that the issue of of 2008, all 50 states have adopted the uniform
abortion becomes important in any discussion panel (see Chapter 14).
of prenatal screening and ethics. The central The expanded newborn screening panel,
question in a discussion of abortion is the defi- however, has not been without controversy.
nition of personhood. A detailed discussion of Proponents of expanded screening have used a
the abortion debate, however, is beyond the broader definition of “benefit” than that of the
scope of this chapter. Suffice it to say that indi- past. Previously, only the possibility of direct
vidual attitudes towards abortion are diverse medical benefit to the child was considered in
and that abortion is a sensitive, politically- and evaluating whether to include a condition in
religiously-charged topic. the newborn screening panel. The concept of
benefit, however, has expanded now to include
Newborn Screening benefit to the family, to inform future repro-
■ ■ ■ Najar ductive decisions about conditions that carry
an increased recurrence risk (see Chapter 1)
Before going home from the hospital, the proud and to prevent parental anxiety from future
parents of baby boy Najar are informed by a medical odysseys to diagnose these rare and
frequently misdiagnosed conditions. In this had been destroyed as part of the settlement
framework, knowledge, in and of itself, is con- from the initial case, the legal claims were moot.
sidered a benefit. It is important to note that the claims regard-
Critics of expanded NBS have argued, how- ing the legality of the state retention and use of
ever, that it is inappropriate to screen infants for residual newborn screening blood samples were
conditions for which no effective therapy cur- not fully adjudicated in either case.
rently exists. In addition, although the techno- In Minnesota, the newborn screening law-
logical capacity exists to further expand NBS suit was based upon different legal claims. In
to screen for thousands of genetic variants by Bearder v. State of Minnesota, nine families sued
microarray technology, the ability to coun- the Minnesota Department of Health in 2009
sel parents about positive test results from this alleging that the state retention of residual new-
technology is limited, as information about a born screening DBS violated the state genetic
particular variant’s clinical significance is limited privacy law requirement to obtain informed
or unknown. It also has been argued that the consent to store genetic information (Treat-
opportunity cost of expanding newborn screen- ment of Genetic Information Held by Gov-
ing cannot be adequately justified when there are ernment Entitites and Others, 2010).The state
competing underfunded health initiatives. initially prevailed in the Minnesota lawsuit
The retention and use of residual dried because the lower court ruled that the genetic
blood samples (DBS) for medical research privacy act did not supersede existing newborn
unrelated to newborn screening is another area screening law. The lower court’s decision was
of controversy. Whether explicit parental per- upheld upon appeal. The Minnesota Court of
mission (opt-in) is required to retain the DBS Appeals noted that the broad authority of the
or whether the state may retain the sample Commissioner of Health to manage the new-
unless parents object (opt-out) is a contentious born screening program provided authorization
issue. In Texas and Minnesota, parents sued the to retain, use, and disseminate blood specimens
state Departments of Health for retaining their for newborn screening related research.
babies’ DBS without their permission (Bearder The Minnesota Supreme Court rejected
v. State of Minnesota, Beleno v. Texas Department these arguments. The Court held that residual
of State Health Services). newborn screening DBS are biological infor-
In Texas, a group of parents filed a class mation subject to protection under the genetic
action lawsuit in federal court claiming the privacy act and that the use of the residual
action infringed on their constitutional pro- DBS for purposes other than the screening of
tection against unreasonable seizures (i.e., the newborn children and for follow-up services
DBS) and their right to privacy (14th Amend- requires written informed consent.
ment). In response to the Texas lawsuit, the state From a national perspective, the issue
legislature enacted a law that would require par- remains unsettled. As the debate continues about
ents to be informed that DBS could be retained the future development of newborn screening
by the state and used for medical research (H.B. programs, the public health mission of NBS
1672, 81st Leg. Tex. 2009). Furthermore, the needs to be balanced against parents’ right to
law states that parents be given the option to be informed and to protect the best interests of
refuse to allow the state to retain their babies’ their child.
DBS. The Texas lawsuit subsequently was
settled, and as part of the settlement, the state Care for Infants at Risk for Disability
agreed to destroy over 5 million DBS that had
been retained prior to the new legislation’s ■ ■ ■ Baby Girl Smith
enactment. After the media reported that 800 Baby girl Smith was born at an estimated gesta-
residual dried blood samples from Texas had tional age of 25 weeks. In the delivery room she
been given to the U.S. Armed Forces Pathology was immediately intubated and transferred to
Laboratory, a second lawsuit was filed in federal the newborn intensive care unit (NICU), where
court against the Texas Department of Health
she was stabilized on moderate ventilatory sup-
Services (Higgins v. Tex. Dept. of State Health
port for the first 48 hours. On her third day of
Services). The second lawsuit was dismissed in
July, 2011, based upon the court’s finding that life, however, she was found to have a bulging
the Texas Constitution granted the Department fontanel (soft spot on the crown of the head). A
of Health Services immunity from suit by indi- head ultrasound revealed a Grade IV intraven-
viduals and the court’s determination that since tricular hemorrhage (IVH), which carries sig-
the residual dried blood spots of the plaintiffs nificant mortality and morbidity (see Chapter 7).
For those infants surviving this event, the risk of throat surgeon for possible placement of a tra-
developing cerebral palsy, intellectual disability, cheotomy for continuous mechanical ventilation.
and/or other developmental disabilities is sig-
nificant. The care team arranged for a meeting Paralleling the increasing survival seen in
the NICU has been a quiet revolution in the
with her parents to discuss the goals of therapy
outpatient management of many progressive/
and potential outcomes.
chronic conditions that were previously fatal
One of the greatest advancements in medi- during childhood. These include cystic fibro-
cal technology of the past few decades has been sis, DMD, sickle-cell disease, congenital heart
in the NICU care of low-birth-weight infants, disease, and several other severe chronic dis-
resulting in improved survival of newborn eases of childhood. One of the most dramatic
infants like baby girl Smith. Although smaller improvements has been in the effective use of
and sicker infants now survive, they have a home mechanical ventilation to allow children
greater chance than their larger, full-term peers like Nicholas, with DMD, to live many years
of having function-limiting impairments of cog- longer. Helping families navigate the clinical
nitive and motor development. This is further pathways leading to decisions about whether
problematic as it is often difficult to predict, to pursue invasive surgeries and aggressive,
even for children with known central nervous ongoing therapies (e.g., total parenteral [intra-
system abnormalities, the degree of future defi- venous] nutrition or mechanical ventilation), or
cits or their effect on long-term personal and to decline them is a relatively new problem in
familial happiness. These factors combine to pediatrics. These decisions should account for
make important life-affecting treatment deci- the adolescent patient’s emerging preferences
sions of the care team and baby girl Smith’s and autonomy as well as parental autonomy.
parents quite difficult. Research has shown Because these medical technologies are new,
that clinicians and therapists in the NICU are their long-term risks and benefits frequently have
generally overly pessimistic about their predic- not been well-studied. As a result, there contin-
tions of cognitive and motor outcomes (Saigal, ues to be a wide range of perspectives about their
Stoskopf, Feeny, et al., 1999). This is because suitability for use in these populations. Ques-
post-NICU factors, such as early interventions persist regarding 1) the impact of the indi-
tion services, have been shown to have a larger vidual’s choice on his or her own life, and on the
influence upon long-term outcomes than most life of the family and of the community which
NICU teams factor into their considerations surrounds and supports him or her, and 2) eco-
(Stephens, Tucker, & Vohr, 2010). There is nomic factors (both positive and negative) that
currently an ethical mandate to improve the may need to be considered in supporting the
training of pediatricians, especially those who decision. It is critical that practitioners, who are
seek to become neonatologists, to improve their engaging in the care of individuals and families
knowledge, skills, and attitudes about appropri- who are making these decisions, keep abreast of
ately facilitating increasingly common but dif- all these changing factors and not rely solely on
ficult treatment decisions regarding prematures past experiences or conceptions of “what can be
and other at-risk neonates (McCabe, Hunt, & done” or even “what should be done.”
Serwint, 2008).
Diagnostic Categorization
Interventional Decisions
■ ■ ■ Claire
■ ■ ■ NICHOLAS
Claire is a beautiful 3-year-old who has come
Nicholas was diagnosed with Duchenne mus- to the Down syndrome clinic. She has a very
cular dystrophy (DMD) at 6 years of age. Now, mild phenotype, with developmental delays
at age 16, he has multiple impairments, includ- that are responding well to therapy. She is small
ing severe restrictive lung disease (secondary to and has some of the physical features of Down
extreme scoliosis along with his muscular weak- syndrome, including a transpalmer crease. It is
ness). He currently needs overnight pressur- noted that although she was diagnosed pre-
ized oxygen delivery by a nasal canula (bi-pap) natally with mosaic Trisomy 21, she never had
as well as multiple daily respiratory treatments. blood drawn after birth for karyotyping, so it is
His father, who is his sole care provider, has ordered at this visit. Full evaluation of all her
requested a consultation with an ear, nose, and blood cells reveals not a single one with trisomy
21. The clinician is then asked by her family, criticized by the leading professional organiza-
“Does she really have Down syndrome?” tions in the field (Board of Directors of the Ameri-
can Association on Intellectual & Developmental
Practicing clinicians are increasingly find- Disabilities, 2006); and were required to offer
ing that the labels and diagnostic categories
institutional changes to prevent this type of deci-
that once seemed clear are increasingly hard to
sion making from being repeated in the future at
define and use with precision in children with
variant expression, such as Claire. “Does Claire their hospital (Ostrom, 2007).
have Down syndrome?” It is likely that some
The saga of this case has been well docu-
cell lines within her do have trisomy 21 and
mented, and articles both promoting and
that it was chance that the sample of blood col-
denouncing “growth attenuation therapy” con-
lected did not contain these cells. The question
tinue to be written. Two points can be made
is, however, “Does she have it enough to qualify
from this case: 1) membership on an ethics com-
for governmental programs that assist individu-
mittee does not automatically make a person an
als with known specific conditions such as Down
expert in all the laws (e.g., special statutes related
syndrome?” Is it sufficiently present to warrant
to this population or procedure) or clinical facts
a label that may limit the expectations of others
(e.g., at what weight is a person not usually able
for her future achievements? Different perspec-
to be lifted) involved in all case consultations;
tives on these questions lead to radically different
and 2) expertise in addressing the above issues
answers, and it is important for all who work in
can often be found outside the ethics commit-
this rapidly changing field to recognize that past
tee, if time is taken to seek it out. It is incumbent
simple categorizations fail to capture the more
upon ethics committees to seek out the exper-
complicated future of variants of normal.
tise necessary to make recommendations about
a particular course of action, particularly in the
The Ashley “Enhancement” case of novel or controversial situations.
In addition, it is particularly important to
■ ■ ■ ashley have broad public discussion beyond the con-
Ashley is a young girl with a mixed picture of fines of hospital ethics committees for many
severe cognitive and motor impairments of of these issues. This is especially true for those
medical interventions, like hysterectomy in a
unclear etiology. Her parents hope that her pre-
woman with a cognitive impairment, that have
mature puberty might lead to a shortened stat-
been specifically condemned by many bod-
ure, making her easier to care for. In order to ies outside of medicine. Our current culture is
increase the chances of a smaller adult height, more diverse than at any previous time in his-
they ask her doctor if she should undergo treat- tory, and care should be taken to ensure that
ment with hormonal therapy to stunt her linear diverse and divergent views have a voice in
growth, have a hysterectomy (but not oopho- these discussions (MacIntyre, 1999).
rectomy), and breast bud removal. The doctor
asked for an ethics committee consultation as End of Life Decision Making
she is not sure whether to comply with parental
■ ■ ■ miguel
wishes in this case. The committee that was con-
sulted unfortunately lacked a representative from Miguel was born with an anterior encephalocele,
the long-term care community and lacked a cli- which was surgically removed in the first days
nician specializing in the care of individuals with of life to prevent a potentially life-threatening
intellectual disability. In addition, the committee, infection (see Chapter 25). After surgery, his med-
the doctors, and the hospital failed to consult or ical difficulties were many, and he required both a
inform a representative of the legal team of the gastrostomy tube for feeding and a tracheotomy
state that is mandated by federal law to moni- to protect his airway. The abnormalities in his
tor the treatment of individuals with intellectual brain made even the basic function of maintain-
impairment. Because of these oversights, the ing a stable body temperature difficult. Most of
committee recommendation was that the par- the nurses and doctors taking care of him thought
ents’ request for treatments should be respected. he should be allowed to die peacefully. They
When Ashley’s care team publicized their actions recommended that the goals of care should be
(Gunther & Diekema, 2006), however, they were changed from aggressive interventions to com-
found to be in violation of the law; were strongly fort alone. However, Miguel’s parents disagreed;
they wanted continued aggressive interventions of achieving resolution, the Joint Commission
so he could live as long as possible. on Accreditation of Healthcare Organizations
(JCAHO) requires that every U.S. health care
In Greek mythology, there is the story of organization provide a mechanism to address
the two deadly monsters, Scylla and Charybdis, ethical conflicts. To satisfy this requirement,
located in close proximity to one other; together most hospitals have developed institutional
they posed an inescapable threat to passing ethics committees (IECs) to serve three main
sailors. Avoiding Charybdis meant passing too purposes: 1) educating health care profession-
closely to Scylla and vice versa. The phrase als about bioethics issues, 2) developing insti-
“between Scylla and Charybdis” has come to tutional policies concerning bioethics, and
mean being in a state where one is between 3) providing clinical ethics consultation.
two dangers and moving away from one dan- Through case consultations, IECs can
ger will cause you to be at risk from the other. 1) help facilitate communication between family
That precisely expresses the dangers that lurk members and the health care team, 2) identify a
when attempting to navigate the difficult ethical range of morally acceptable treatment options,
dilemmas related to withdrawal of support from and 3) assist in the resolution of conflicts about
individuals with severe intellectual and develop- treatment decisions. It should be noted that the
mental disabilities. recommendations of IECs are advisory and not
Charting a course between the Scylla of binding (Committee on Bioethics, 2001).
vitalism and the Charybdis of futility is an apt The American Academy of Pediatrics’
metaphor for the difficulty inherent in end- (AAP) guidelines for the operation of IECs
of-life decision making and lies behind the include recommendations that any patient, par-
Baby Doe legislation discussed previously. ent/guardian, or family member be able to ini-
Participants in these morally profound deci- tiate an ethics consult. Similarly, the guidelines
sions generally agree that they desire to avoid recommend that any physician, nurse, or other
both the unnecessary suffering of patients and health care provider involved in the care of the
the unwarranted prolongation of death that child also be allowed to initiate an ethics con-
can sometimes accompany decisions for life- sult (Committee on Bioethics, 2001). The care
sustaining treatment options. of children with severe disabilities can result in
Similarly, discussion participants and deci- significant moral distress for health care provid-
sion makers share a desire to avoid bias and ers, and consultation with an IEC can provide
discrimination against those with intellectual one mechanism to ease this distress.
and other developmental disabilities, and seek IEC membership should be multidisci-
to resolve conflicts among the parties involved. plinary and include community representation
The disagreements lie in their interpretations (Lyren & Ford, 2007). The hospital attorney or
of the course that they need to navigate. The risk manager may participate in the IEC (Mer-
“answers” to these dilemmas are not found in curio, 2011). This member may play a crucial
textbooks, but rather through the process of role in the interpretation of case law or state
honest, caring, and often lengthy deliberations regulation. It should be recognized, however,
between the important decision makers: clini- that the hospital attorney or risk manager may
cians and staff, family and supportive friends, experience a conflict of interest between the
clergy, and professional advisors. Unfortu- duty to protect the patient’s interests and the
nately, such lengthy and balanced discussions duty to protect the institution. In these cases,
do not always occur, due to the demands placed participation of the attorney or risk manager
on care providers, hospital staff, clergy, and should be limited to providing specific legal or
families. Miguel’s family never came to agree- administrative advice.
ment with his care team, and he died only after
a prolonged attempt at resuscitation: This out-
come was seen as a “good” one by his family but Protection of Human
as a “bad” one by the care team. Subjects in Research
In the past, the boundaries between clinical
Institutional practice and biomedical research have blurred
for some investigators, resulting in a lack of pro-
Ethics Committees
tection of their research participants. In response
Recognizing the prevalence of ethical dilem- to these abuses, the U.S. government has
mas in health care settings and the importance adopted stringent guidelines to regulate research
involving human subjects, especially for those in to yield generalizable knowledge about the
vulnerable populations including children, indi- subject’s disorder or condition” (§46.406).
viduals with disabilities, and prisoners. In this category, the risk of the research
must represent a minor increase over mini-
The Willowbrook Experiments mal risk. In addition, the intervention must
The Willowbrook experiments are one example present to the child-subjects experiences
of research involving children with disabilities that are reasonably commensurate with
that resulted in serious violations of ethical those inherent in their actual, or expected,
principles. Beginning in 1955 and continuing medical, dental, psychological, social, or
for 15 years, hepatitis research was conducted educational situations. Finally, the inter-
at Willowbrook State School, an institution vention must be likely to yield generalizable
for children with intellectual disability. The knowledge about the subject’s disorder or
research protocol involved the deliberate infec- condition which is of vital importance for
tion of new patients with the hepatitis virus fol- understanding or ameliorating the disorder.
lowed by the injection of protective antibodies For all three categories, provisions must be
(Education Development Center, 2009). made to elicit the assent of the children (over
This research was criticized for two main age 6 years) and the permission of their parents
reasons. First, it was not appropriate to use for participation in the research. Research that
a vulnerable, institutionalized population of does not meet the above criteria is subject to a
children with cognitive impairments for these special level of review by the U.S. Department
experiments, particularly when no benefit to the of Health and Human Services beyond that
children could result. Second, the children’s par- provided by local IRB.
ents were unduly influenced to give consent for There is another side to the issue of chil-
their children’s participation; that is, admission dren’s participation in research. While children
to Willowbrook was contingent upon consent to need to be protected, they also need to have the
participate (Goldby, 1971). opportunity to participate in clinical research.
Subsequent to the Willowbrook experi- Right now over 80% of drugs used to treat chil-
ments, rigorous standards to protect human dren have not been rigorously tested in chil-
subjects in federally funded biomedical research dren to establish correct dosage. The result is
were adopted by the U.S. government. They an increased risk of overdose and side effects
require Institutional Review Board (IRB) review from medication. In response to concerns that
and oversight for most categories of research. children were denied fair access to medical
These standards involve special regulatory advances due to their exclusion from medi-
requirements that provide additional protection cal research, in 1998 the National Institutes of
for children who may be involved in biomedical Health (NIH) began requiring that children be
research. These regulations in the United States included in all human subjects research pro-
Federal Regulations, 45 CFR 46, Subpart (D) tocols unless researchers could demonstrate
permit IRBs to only approve three categories of a compelling reason to exclude them. This
research involving children as subjects: requirement’s goal is to increase children’s par-
1. “Research not involving greater than mini- ticipation in research so that adequate data will
mal risk to the child” (§46.404). be developed to support therapeutic modalities
employed in the care and treatment of medi-
2. “Research involving greater than minimal
cal disorders in children and adults (Office of
risk but presenting the prospect of direct
Extramural Research, 1998). The result of this
benefit to the individual child subject
mandate has been a marked increase in child
involved in the research” (§46.405). In this
participation in drug trials, and important new
category, the risk must be justified by the
research information has been gained on dos-
anticipated benefits to the research subject.
age and side effects of many medications com-
In addition, the relationship of the antici-
monly used in pediatric care.
pated benefit to the risk presented by the
study must be at least as favorable to the
subject as that provided by available alter- SUMMARY
native approaches to treatment. The information provided in this chapter is
3. “Research involving greater than minimal meant to assist health care professionals in pro-
risk and with no prospect of direct benefit viding a framework for ethical decision mak-
to the individual child subjects involved in ing in cases involving pediatric patients. The
the research, can be considered if it is likely issues raised in this chapter make it clear that
physicians and other health care professionals Gunther, D.F., & Diekema, D.S. (2006). Attenuating
should consider many points of view in their growth in children with profound developmental dis-
ability: A new approach to an old dilemma. Archives of
decision making, especially seeking out parents Pediatric & Adolescent Medicine, 160, 1013–1014.
(or parent groups), patients (or patient advo- H.B. 1672, 81st Texas Leg. (2009) Retrieved August 4,
cacy organizations), experts in fields outside of 2011, from http://www.legis.state.tx.us/BillLookup/
medicine (including law, disability rights, and Text.aspx?LegSess=81R&Bill=HB1672.
Higgins v Texas Department of Health Services, Civil
professional organizations outside of medicine),
Action No. SA-10-CV-990-XR. U.S. District Court
and local community members. This may lead for the Western District of Texas, July 7, 2011.
to the development of practical steps that will Lyren, A., & Ford, P.J. (2007). Special considerations
allow physicians and families to come to ethi- for clinical ethics consultation in pediatrics: Pediat-
cal decisions regarding the care of children with ric care provider as advocate. Clinical Pediatrics, 46,
771–776.
disabilities, the education of trainees in these MacIntyre, A. (1999, February). Social structures and
issues, and the awareness of the different per- their threats to moral agency. Annual lecture of the
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structions of the past are no longer adequate for McCabe, M.E., Hunt, E.A., & Serwint, J.R., (2008).
Pediatric residents’ clinical and educational experi-
the more complicated future.
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40 Future Expectations
Transition from
Adolescence to Adulthood
Nienke P. Dosa, Patience H. White, and Vincent Schuyler

■ Be aware of the importance of planning for the transition to adulthood for
youth with disabilities
■ Understand the relationship between self-determination and health outcomes
and social participation
■ Understand the resources and mandated laws available to assist youth with
disabilities
■ Know the role of employment and postsecondary education in the transition
process
■ Understand the role health care providers play in promoting successful transi-
tion to adulthood of youth with disabilities
Individuals with developmental disabilities education 2 years ago. Bryan currently works
encounter the same life transitions as typically in a supported employment position at a local
developing people. Perhaps the most chal- supermarket. He receives support and guidance
lenging is the transition to adulthood, a period from co-workers who were trained by a local job
of complex biological, social, and emotional placement program to provide natural supports
change. This transition involves learning to in the workplace. After work he participates in
move from 1) school to work, 2) home to com-
many recreational and leisure activities with
munity, and 3) child- to adult-oriented health
friends. He goes to the gym and swims regu-
care. This chapter focuses on the steps involved
in the successful transition of an individual with larly at the advice of his physician, for general
developmental disabilities from adolescence to health, and to prevent obesity. With his increas-
adulthood. ing job satisfaction and financial independence,
this past year Bryan expressed a desire to live
■ ■ ■ BRYAN on his own. He and his parents contacted the
Bryan is a young man with cerebral palsy and local United Cerebral Palsy Association chap-
intellectual disability who was born prematurely ter and, with assistance from the staff, found an
23 years ago. He completed his public school apartment and a live-in personal-care attendant.
691
692 Dosa, White, and Schuyler
Bryan still goes to his parents’ house for family Teachers and other individuals providing
dinners and events at least once per week and assistance to families can and should begin pre-
spends additional time with his two younger paring children with developmental disabili-
siblings, ages 16 and 18, who come to visit him ties for independence as early as possible. For
frequently in his apartment. Bryan has recently example, young children between 3–5 years
started dating a young woman he met at his job. of age can begin to incorporate chores into
their daily routine. Families that give children
opportunities to demonstrate competence
GENERAL PRINCIPLES through developmentally appropriate house-
OF TRANSITION hold chores send a clear message of support
and capability. By the developmental age of
There are three basic tenets of successful transi- 6–11 years, children should begin to assume
tion. First, transition is a process, not an event. responsibility for their self-care. During ado-
Planning for transition to adulthood should lescence, self-determination skills should be
begin as early as possible in adolescence on a focused on identifying and meeting educa-
flexible schedule that recognizes the young tional and vocational goals. In early adulthood,
person’s increasing autonomy and capacity for these skills can then be used to identify and
making choices (American Academy of Pediat- meet goals related to independent living. Cur-
rics, American Academy of Family Physicians, ricula, tools, and policies have been developed
and American College of Physicians, Transi- to enhance self-determination for students
tions Clinical Report Authoring Group, 2011). with disabilities (Calkins & Wehmeyer, 2011).
Second, coordination among health care, edu-
cational, vocational, and social-service systems
is essential. It is particularly important to rec- MOVING FROM SCHOOL TO WORK
ognize the complex interplay between health
and social outcomes as youth with developmen- The concept of transition planning originated
tal disabilities age into an employment-based with schools, and education policies are the
health insurance system. Third, self-determi- driving force for almost all aspects of transition.
nation skills should be fostered throughout Five pieces of legislation—the Individuals with
the transition process. Standards for transition Disabilities Education Improvement Act of
services call for a youth-centered and asset- 2004 (PL 108-446; IDEA 2004), the School-to-
oriented approach that involves the person as a Work Opportunities Act of 1994 (PL 103-239),
decision maker during the entire transition pro- the Workforce Investment Act (WIA) of 1998
cess (Pilnick, Clegg, Murphy, & Almack, 2010). (PL 105-220), the Americans with Disabili-
ties Act (ADA) of 1990 (PL 101-336), and the
Higher Education Opportunity Act (HEOA;
MOVING TOWARD PL 110-315) outline important educational
INDEPENDENCE: practices that lead to successful adult outcomes
SELF-DETERMINATION for students with disabilities. Certain aspects
of these key laws are discussed in the following
Human self-determination is an outlook that sections.
involves a combination of attitudes and abili-
ties that lead people to set goals for themselves, Legislation for Transition
to take the initiative to reach these goals, and
to realize those goals (Ryan & Deci, 2000).
Individuals with Disabilities
The capabilities needed for self-determination The 2004 reauthorization of IDEA in particular
are learned through real-world experiences has strengthened school-to-work transitions.
(including mistakes) and by an open and sup- This legislation established 16 years of age as
portive acknowledgement of one’s disability a clear starting point for transition planning in
(Nota, Ferrari, Soresi, & Wehmeyer, 2007). the individualized education program (IEP).
Families, teachers, and other well-intentioned It strengthened the working definition of tran-
people often protect youth with disabilities sition services and redefined transition planning
from making mistakes and avoid discussing the from a statement of needed services to a set of
ramifications of a child’s disability as they help measurable postsecondary goals based upon
them prepare for adulthood. This can predis- age-appropriate transition assessments related
pose the developing child to future failure or to training, education, employment, and, where
can result in learned helplessness (Peterson, appropriate, independent living skills. This leg-
Maier, & Seligman, 1995). islation also requires schools to report progress
Future Expectations: Transition from Adolescence to Adulthood 693
toward meeting transition goals in the IEP. the VR agency can provide or arrange for a host
Under IDEA 2004, schools must provide a of training, educational, medical, and other ser-
“summary of performance” to students whose vices designed to help these individuals acquire
special education eligibility is terminated. This and maintain gainful employment. Similar to
new summary must include information on the the IEP in the school system, all services aim to
student’s academic achievement and functional develop an individualized plan for employment
performance and include recommendations (IPE; previously called an individualized writ-
on how to assist the student in meeting his or ten rehabilitation program [IWRP]), which is
her postsecondary goals. While schools are not directed at meeting the needs of the young per-
required to conduct any new assessments or son. Although VR counselors can provide direct
evaluations in order to provide the summary, services, they more often refer the individual to
they must satisfy the disability documentation appropriate community-based agencies. Ser-
required under other federal laws such as the vices covered by VR may include self-advocacy
Americans with Disabilities Act and Section training, the development of employment-
504 of the Rehabilitation Act of 1973 (http:// readiness skills, adaptive driving evaluation and
www.ncld.org/at-school/your-childs-rights/ instruction, identification and procurement of
iep-aamp-504-plan/idea-2004-improving-tran- assistive technology, job coaching, and so forth.
sition-planning-and-results).
Moving Toward
Vocational Rehabilitation Postsecondary Education
Linking schools with systems of care that Postsecondary education can take many forms.
serve adults with disabilities, including voca- Although traditionally thought of as college,
tional rehabilitation (VR) agencies, strengthens it may be any form of education or training
the transition process. The School-to-Work that takes place after a young adult leaves high
Opportunities Act of 1994 provides workplace school, including on-the-job training, special-
mentoring and skills certificates for youth ized coursework, or even courses through post-
with developmental disabilities. The Work- graduate study. Most colleges and universities
force Investment Act of 1998 links education, have an office designated as disability support
employment, and training services to a network services (DSS) or, at a minimum, a staff member
of resources in local areas called One-Stop designated to assist students with disabilities.
Career Centers (Barnow & King, 2005). Tran- To receive assistance or request accommoda-
sition planning as mandated by IDEA 2004 tions for disability-related needs, a student
stipulates that schools are responsible for bring- must take the lead in disclosing his or her dis-
ing in representatives from other agencies, such ability, providing current documentation of the
as vocational rehabilitative services, to be part disability and identifying needed accommoda-
of the transition planning process. Vocational tions. Accommodations are established on a
rehabilitation agencies help pay for postsecond- case-by-case basis and do not necessarily repli-
ary education for qualified young adults. These cate those provided in the K–12 setting. Exam-
agencies may also be responsible for delivering ples of accommodations that can be requested
some of the student’s needed services. Should of DSS include extra time in test-taking, a sign
these agencies fail to provide the agreed-upon language interpreter, a note taker, and recorded
services, schools must find alternative ways to books. Postsecondary education facilities that
fulfill the transition objectives for the student. receive federal funding are required to pro-
It is important to note that VR counselors are vide reasonable accommodations to qualified
typically assigned to students only during their individuals with disabilities under Section 504
last 2 years of school but that parents and stu- of the Rehabilitation Act of 1973 (PL 93-112)
dents can request their participation as early and under Titles II and/or III of the ADA. The
as age 14 via One-Stop Career Centers (U.S. Higher Education Opportunity Act (HEOA)
Department of Labor, 2005) or through the (PL 110-315) was enacted in 2008, reauthoriz-
school. ing the Higher Education Act (HEA) of 1965.
Unlike the entitlement based system for This law improves access to postsecondary edu-
K–12 education, all adult services and systems cation for students with intellectual disabilities
are eligibility-based and require that individuals by opening up eligibility for Pell Grants, Sup-
meet the established requirements, including plemental Educational Opportunity Grants,
financial eligibility criteria, to receive services. and Federal Work-Study Programs, and by
Once individuals are determined to be eligible, creating model demonstration programs and
coordinating centers for students with intellec- An individual engaged in competitive

tual disabilities (Smith, 2009). employment is expected to perform essential
functions at the same level as other employees
Entering the Work Force without disabilities. Individuals with disabili-
Work experience is a prerequisite for many jobs. ties may request an accommodation under the
Unfortunately, most youth with developmental protections of the ADA that enables them to
disabilities enter the work force later than their perform these functions, as long as the accom-
peers who do not have disabilities (U.S. Depart- modation does not fundamentally alter the
ment of Labor, 2005; Von Shrader, 2010). nature of the job. Accommodations covered by
Nationwide, 41% of high school freshman and ADA include adaptive seating, computer input
85% of high school seniors have regular jobs devices, large-print text, and so forth. To suc-
either during the school year or during summer ceed in this competitive employment setting,
months (U.S. Department of Labor, 2005). In individuals with disabilities must have the same
contrast, only 26% of adolescents aged 16–20 skills requisite for any employee to succeed
years who have disabilities are wage earners in the workplace: knowledge base for the job,
prior to high school graduation (Von Shrader, appropriate social skills, effective communica-
2010). Among youth with developmental tion skills, and motivation. Individuals with
disabilities, those with learning challenges, disabilities also must have appropriate indepen-
emotional disabilities, speech impairments, or dent living skills, and the skills and abilities to
other health impairments are most likely to be manage their disability-related needs, such as
employed. (Cameto et al., 2003). Only 15% of hiring and managing personal care attendants
youth with autism spectrum disorders; approxi- and transportation services.
mately 25% of youth with multiple disabilities,
deaf-blindness, or orthopedic impairments; and Work-Study Employment
about 33% of youth with intellectual disability Work-study employment is part-time work
or visual impairments are employed during high for students sanctioned by the school either
school (Cameto et al., 2003). The implications on or off campus. Age-appropriate transition
of limited early job experience on work force assessment information and the student’s IEP
readiness, long-term employment, economic goals for transition should inform the appro-
status, and social functioning in adulthood are priateness of this type of work. Persons with
profound. Employment rates in 2009 for the 15 disabilities are not immune from social preju-
million U.S. adults who have a disability (8.1% dices and stereotypes, so it is important to avoid
of adults ages 18–64 years) were substantially employment options for adolescents who have
lower than for adults who do not have a disabil- disabilities that reinforce these stereotypes. For
ity (16.8% versus 74%). The correlate to this is example, the number of individuals with devel-
a poverty rate for adults who have a disability opmental disabilities employed in food service
that is substantially higher than that of the pop- (19% of work-study jobs and 16% of regular
ulation without disabilities (28.1% versus 10%; jobs) and maintenance (16% of work-study jobs
Von Shrader, 2010). and 24% of regular jobs) far exceeds what one
A plan for paid work experiences should would expect to be representative of the interest
be written into a student’s IEP starting no later level for these jobs among youth with develop-
than age 16 years (IDEA, 2004). Job placement mental disabilities (Cameto et al., 2003).
choices should be based, when possible, on indi-
vidual interests, abilities, and post-secondary Supported Employment
goals. For example, if a student has set comput- Supported employment is defined by the
ing-related career goals, an appropriate place- Rehabilitation Act Amendments of 1986 (PL
ment would be one that allows the student to 99-506) and 1992 (PL 102-569) as employ-
work with a computer in some fashion. ment in an inclusive setting with ongoing sup-
port services for an individual with a disability.
Work Options Supported employment programs are generally
Individuals with disabilities who are entering administered through the state-level Bureaus
the work force, like those without disabilities, of Vocational Rehabilitation and state develop-
have the option of participating in competi- mental disability agencies. These agencies help
tive employment, but they also have a range of people with disabilities obtain employment
other work alternatives available to them (But- by identifying supports through supervisor or
terworth, Smith, Hall, Migliore, Winsor, 2009). co-worker assistance (natural supports) or job
coaches. A job coach or employment consul- provide a more intensive level of support and
tant is a person who is hired by the individual focus on the development of daily living skills
or the placement agency; his or her duty is to rather than job skills. The ultimate goal for any
provide specialized on-site training to assist of these programs should remain moving the
the employee with a disability in learning and individual toward employment.
performing his or her job and adjusting to the
work environment with the ultimate goal of full
inclusion at the worksite (Degeneffe, 2000).
MOVING FROM HOME
INTO THE COMMUNITY
Customized Employment
There are several key financial and legal issues
Customized employment is a blend of ser- that need to be addressed to insure that at age
vices designed to increase employment options 18 there is no loss of income and/or services,
for individuals with significant disabilities such family assets are protected, and youth with
as self-employment, entrepreneurship, job developmental disabilities are assured suitable
carving and restructuring, personal agents and independent living options as they move from
customized training (United States Depart- home to the community. Financial barriers are
ment of Labor, 2009). the most common reason youth with develop-
mental disabilities fail to make the transition to
Enclaves independent living in the community (McPher-
Enclaves (sheltered workshops) were once con- son et al., 2004).
sidered a viable employment option for individ-
uals with severe disabilities (Wehman & Kregel, Financial Independence
1985). The enclave brings together groups of
Supplemental Security Income (SSI) is a
individuals with disabilities at one site with a
monthly payment for individuals with disabili-
common job coach engaged around a work
ties. To qualify for SSI, individuals must meet
task. Enclaves are seen as a cost-saving model
both disability and financial eligibility require-
for agencies but are controversial because indi-
ments. SSI eligibility is generally determined
viduals often are paid substandard wages and
using adult criteria when adolescents turn
the model does not promote worksite inclusion.
18 years old, with the exception being youth
Placement of individuals in enclave settings is
enrolled in a Social Security Administration
not recommended.
(SSA) work incentive program. Young people
Volunteering with developmental disabilities may lose their
SSI at this time if they fail to meet the adult
In today’s competitive job market, volunteering disability criteria. Conversely, some individuals
is an opportunity for adolescents to gain valu- with disabilities may now qualify for SSI when
able insight into the world of work, to develop they had previously been ineligible because indi-
skills, and to build work-related experience. vidual income, rather than household income,
It can be a positive step toward achievement is used to determine income eligibility at age
of full employment or community inclusion 18. Generally speaking, adults who receive
goals in the IEP. However, volunteer experi- SSI cannot have individual assets greater than
ences should not replace paid work experiences $2,000 and still remain eligible. The SSA, how-
when those opportunities are also available as ever, does allow several important exceptions to
they may inadvertently promote cultural ste- this rule, which are referred to as work incen-
reotypes about the employability of individuals tives (see http://www.SSA.gov/work).
with developmental disabilities (Wolf-Branigin, Despite these incentive programs, a sig-
Schuyler, & White, 2007). nificant number of youth with developmental
disabilities lose SSI benefits when they become
Other Options adults. In 2009, adolescents in the 13–17 year
Some youth with intellectual disabilities may age bracket represented 8.8% of SSI recipi-
not be ready to make the transition into a work- ents. This dropped to 6.9% for young adults
related setting immediately after exiting the in the 18–21 year age bracket (United States
school system. (Shaw et al., 2008). For these Social Security Administration Annual Statis-
individuals, other more supportive options are tical Supplement, 2010). Youth who lose SSI
available, such as day treatment/habilitation benefits when eligibility is redetermined at
or work-readiness programs. These programs age 18 should request a second review because
more than one third of such requests result daunting for some families, but it is necessary
in the reinstatement of SSI benefits (Ameri- for enabling caregivers to continue to advocate
can Academy of Pediatrics, 2009; Rupp, et al., more effectively. Once obtained, guardianship
2005–2006). Some individuals who are found papers should be kept in a wallet so that they
ineligible can continue to receive SSI benefits can be presented at all health care encounters.
as long as they participate in approved VR pro- Guardianship papers are as important as an
grams. In most states, people who receive SSI insurance card when patients with develop-
automatically also qualify for Medicaid. mental disabilities enter the adult health care
Social Security Disability Insurance (SSDI) system.
is a monthly payment for individuals with dis- There are several alternatives to guardian-
abilities. There are two ways to qualify for ship that may be preferable because they avoid
SSDI benefits. Workers (including those in legal “red tape” and are more specific to the
sheltered or supported work settings) who have individual’s needs and rights. A representative
paid into the Social Security system are eligible payeeship can be useful when the only income
for SSDI if they are no longer able to work. an individual receives is his or her monthly SSI
Monthly SSDI benefits are also paid to an adult check and there are no major financial decisions.
with developmental disabilities when a parent A special needs trust permits adults with devel-
or guardian meets disability criteria and cannot opmental disabilities to inherit money, which
work. It is important to know that beneficiaries can be used for services not covered by Medicaid
who receive SSDI for more than 2 years are eli- or Medicare without interrupting these govern-
gible for health care coverage under Medicare. ment benefits. A conservatorship is established
when an individual is mentally competent but
Legal Status/Guardianship has a physical disability that limits his or her
In most states, the natural guardianship of ability to participate in the decision-making pro-
parents ends when children reach age 18 years. cess. Adult protective services can be ordered by
At that point, parents no longer have the legal a court if abuse or neglect of an adult with devel-
ability to make decisions or sign consent forms opmental disabilities is suspected.
for their child unless they submit an applica- In situations where legal guardianship is
tion for guardianship at their local probate not indicated, support can be provided infor-
court. Two prerequisites must exist before a mally. A circle of support is a group of vol-
court appoints a guardian: 1) the child must unteer advocates, such as family members,
show incompetence in at least one impor- friends and neighbors, who make sure that an
tant area of life, such as health care decisions individual with a developmental disability has
or financial matters; and 2) there must be a a support system that meets all of his or her
present need for the guardianship. In accord needs. A microboard is a circle of support that
with the principles of self-determination, it is incorporated to include the individual with
is important to evaluate the extent to which developmental disabilities as the chairperson
an individual can participate in decisions that (Wetherow & Wetherow, 2004). Although
affect his or her own life (Buchanan & Brock, these sorts of informal alternatives to guardian-
1992; Burt, 1996). This allows probate courts ship are gaining acceptance, it should be noted
to appoint someone as a guardian only over that a legal guardian or a representative payee
that portion of a person’s life where the person is often required by programs and services in
both shows incompetence and has a need (e.g., order to disburse funds to an individual with
health care guardianship). Making a decision developmental disabilities. The paperwork for
about guardianship is essential to the health this should be completed before age 18 to avoid
transition process. When a youth who has a interruption in benefits.
developmental disability cannot make health
care decisions independently, there are sev- Housing
eral options to consider and procedures to Approximately 28% of adults with develop-
follow in order to obtain legal guardianship. mental disabilities live in their own homes,
It is important to make these decisions before 58% live with their families, and 15% reside in
the youth’s 18th birthday because an 18-year- publicly funded residential settings (Lakin, Lar-
old is considered a legal adult unless actions son, Salmi, & Webster, 2010) Most new group
are taken to establish guardianship. In other homes are designed for 1–3 individuals and are
words, guardianship is not automatic. The referred to as independent residential alter-
process of establishing guardianship can be natives (IRA), reflecting a trend away from
institutional settings of 16 or more people, (Prouty et al., 2004). Most group homes have
which was the norm a generation ago. In 2009 on-site counselors who provide supervision and
the average per resident expenditures per year support in daily living skills, employment, and
were $203,670 in state operated IRAs (Lakin recreation.
et al., 2010). Home and community-based ser-
vices and programs for young adults with devel- Supported Living Services
opmental disabilities cost substantially less, and Supported living services (SLS) provide ser-
are in high demand. However, waiting lists are vices to adults with developmental disabilities
the norm. An estimated total of 122,870 per- who live in homes that they own or lease in the
sons in the U.S. with intellectual and develop- community. SLS may include assistance with
mental disabilities were waiting for residential 1) selecting and moving into a home, 2) choos-
services in 2009 (Lakin et al., 2010). ing personal attendants and housemates,
Services and programs that assist individuals 3) acquiring household furnishings, 4) address-
with community living have increased dramati- ing common daily living activities and emer-
cally since the 1990s as a result of the New Free- gencies, 5) becoming a participating member
dom Initiative (Executive Order No. 13217), the in community life, and 6) managing personal
ADA, and the Olmstead decision (Olmstead v. financial affairs (Stancliffe & Lakin, 2005)
L.C., 527 U.S. 581, 1999). The Olmstead deci-
sion interpreted Title II of the ADA to require MOVING FROM PEDIATRIC- TO
states to administer their services, programs, and
activities “in the most integrated setting appro-
ADULT-ORIENTED HEALTH CARE
priate to the needs of qualified individuals with As a result of advances in medical technology
disabilities” (Olmstead v. L.C., 527 U.S. 581, and dramatic improvements in the delivery of
1999). State-funded programs as well as private acute health care, the vast majority of children
nonprofit agencies such as The Arc of the United with developmental disabilities can now expect
States, Easter Seals, and United Cerebral Palsy to survive to adulthood (Day, Strauss, Shavelle,
(UCP) provide service coordination and access & Reynolds, 2005; Hemming, Hutton, &
to a wide array of independent living options. Pharoah, 2006; Picket, Paculdo, Shavelle, &
Independent living centers foster networking Strauss, 2006; Strauss, Shavelle, Rosenbloom,
among people with disabilities and offer assis- & Brooks, 2008). As life expectancy for individ-
tance in four key areas: information and refer- uals with developmental disabilities approaches
ral, independent living skills and training, peer that of the general population, socioeconomic
counseling, and advocacy (Seekins, Enders, & factors are increasingly being recognized as
Innes, 1999). important determinants of health, with quality
of life and social inclusion as meaningful health
Family Home outcomes (Krahn & Campbell, 2011; Nota,
Many families whose grown children have Ferrari, Soresi, & Wehmeyer, 2007).
developmental disabilities will choose for The International Classification of Func-
the individual to continue to live at home. tioning, Disability and Health (ICF) provides
Between 1999 and 2009, the number of adults a framework for understanding the impact of
with developmental disabilities living with the social and physical environment on health
family members in the United States increased for individuals with developmental disabili-
from 355,152 to 599,152 (68.7%; Lakin, Lar- ties (World Health Organization, 2001). This
son, Salmi, & Webster, 2010). The aging of framework broadens the array of interventions
these families is an emerging concern. Approx- to be considered as strategies for improving
imately one quarter of home-based adults health and social outcomes. For example, iden-
with developmental disabilities live in homes tifying accessible recreation opportunities in
headed by elderly parents. Support systems the community may be one of the most effec-
for aging parents of adults with developmen- tive ways to treat obesity in individuals with
tal disabilities are lacking (Heller, Caldwell, & meningomyelocele (Rimmer, Riley, Wang,
Factor, 2007). Rauworth, & Jurkowski, 2004).
Coincidental with the ICF’s reconceptual-
Group Home ization of functioning, disability and health is a
The most common form of assisted living pro- paradigm shift in the way health care is delivered
gram (outside of the family home) is the group to people with developmental disabilities. Insti-
home (Lakin et al., 2010). The trend is toward tutions and hospital-based programs are rapidly
smaller group homes of one to three residents being replaced by home and community-based
supports and services. This trend is reflected by age 26 years. It also includes long-term services
the federal health care goal (in Healthy People and supports insurance (CLASS Act provisions)
2020) that young people with developmen- that will benefit people with developmental dis-
tal disabilities receive services needed to make abilities and their families.
necessary transitions to all aspects of adult life, An algorithm for transitioning youths with
including health care, work, and independent developmental disabilities to adult health care
living (U.S. Department of Health and Human is outlined in a recent clinical report (Ameri-
Services, 2010). can Academy of Pediatrics, American Acad-
A major obstacle to transition to adult- emy of Family Physicians, American College
oriented care is that youth often have no options of Physicians, 2011). This report underscores
(Crowley, Wolfe, Lock, & McKee, 2011; the importance of the patient centered medi-
Greiner, 2007; Reiss & Gibson, 2002). Many cal home, which is an approach to providing
adult health care providers lack training in the comprehensive primary care that facilitates
care of individuals with developmental disabili- partnerships between individual patients, and
ties (Peter, Forke, Ginsburg, & Schwarz, 2009). their personal providers, and when appropri-
Curricula are in development to address this ate, the patient’s family (American Academy of
issue (Betz, 2004; Brin, 2008; Nehring, 2005). Family Physicians et al., 2007). The algorithm
Some resources have already been developed. is driven by a process that includes longitudinal
One, from the National Health Care Transition assessment of transition readiness, the planning
Center (http://www.gottransition.org/) offers and implementation of specific transition goals,
resources and toolkits for health care provid- and documentation. This algorithm identifies a
ers. Specific strategies for successful transition sequence of transition-related activities that are
to an adult medical home model are outlined in ideally (although not necessarily) implemented
the joint statement on health care transition put at specific ages:
forth in 2011 (American Academy of Pediatrics, Step 1: Discuss office transition policy (12–13
American Academy of Family Physicians, and years)
American College of Physicians, Transitions
Step 2: Initiate a transition plan jointly with
Clinical Report Authoring Group, 2011).
parent and youth (14–15 years)
Low patient satisfaction with adult provid-
ers has been reported in terms of availability, Step 3: Review and update the transition plan
thoroughness, respect, and privacy (McDonagh (16–17 years)
& Viner, 2006). Pediatric providers, in turn, Step 4: Transfer care to adult provider(s) (18–21
often struggle to “let go” of their adolescent years)
patients and fail to actively promote the tran- Written documentation is a key compo-
sition to adult health care (Reiss, Gibson, & nent of the actual transfer of care. The clini-
Walker, 2005). Studies have documented that cal report recommends that adult providers be
only one out of six pediatricians routinely dis- given a copy of the transition plan as well as doc-
cusses health care transition with young adult umentation of a youth’s transition readiness, or
patients who have developmental disabilities self-care and health care navigation skills. They
(Scal & Ireland, 2005). Lack of insurance and should also be provided with legal documenta-
underinsurance are also major barriers to health tion (signed HIPAA form and/or guardianship
care transition (see Chapter 41). In the United paperwork) that clearly defines the responsible
States, young adults have the highest uninsured party for medical decision making. Finally, the
rate of any age group. Nearly half (45%), or clinical report recommends that adult provid-
approximately 20 million young adults between ers be given a portable medical summary that
the ages of 19–29, are uninsured for a part of includes a succinct medical history as well as 1) a
each year (Hackett, Comeau, Hess, & Sloyer, list of medical providers, 2) key social service
2010). Approximately one third (30%) of young providers, 3) baseline functional and neurologic
adults who have developmental disabilities are status, 4) cognitive status, including formal test
uninsured (Callahan & Cooper, 2006). To help results and date of administration, 5) condi-
remedy this situation, the Patient Protection and tion-specific emergency treatment plans and
Affordable Care Act within the American Recov- contacts, and 6) the patient’s health education
ery and Reinvestment Act (ARRA; PL 111-5) history. The latter should also include an assess-
of 2009 now prohibits discrimination based on ment of the individuals’ understanding regard-
preexisting conditions and ends lifetime caps ing health conditions, treatments, and prognosis
in coverage. ARRA guarantees continuation of with particular attention focused on entry into
insurance coverage under the parents’ plans to adult life, including procreation potential and
genetic information. Medication reconcili- profound intellectual disability) are less likely
ation, when the medication lists are checked to participate in leisure activities (Van Naarden
for accuracy and to make sure there are no Braun, Yeargin-Allsopp, & Lollar, 2009). Ther-
adverse interactions, is recommended at both apeutic recreation programs that incorporate
the giving and receiving end of the transfer. social skills training can help individuals with
The report also underscores the importance developmental disabilities hone conversation
of direct communication. In addition to the skills, maintain eye contact, use appropriate
previously mentioned algorithm for health body language, and become a self-advocate
care transition, several clinical topics generic (http://www.atraonline.com/displaycommon.
to adolescent health care have unique applica- cfm?an=1&subarticlenbr=105). Examples of
tions for youth with developmental disabilities therapeutic recreation programs include the
during the transition to adulthood. Special Olympics (http://www.specialolympics.
org/) and Best Buddies Programs (http://www.
Adherence and Health Literacy bestbuddies.org/). For individuals with motor
To be ready to move to the adult system, the impairments, there is Wheelchair and Ambu-
adolescent needs to be responsible for taking latory Sports USA (http://www.wsusa.org/).
medications (with supervision when appropri- The National Center on Physical Activity and
ate); to develop the ability to understand and Disability (http://www.ncpad.org) is a clear-
discuss his or her disability; and to use required inghouse for information to promote physical
adaptive equipment or appliances (American activity among individuals with disabilities.
Academy of Pediatrics, American Academy of
Family Physicians, and American College of Sexuality
Physicians, Transitions Clinical Report Author- Sexuality is a natural aspect of human develop-
ing Group, 2011). During this process, health ment and is important to all individuals regard-
care professionals should consider when to start less of gender, orientation, or developmental
seeing the individual alone and when to develop level (Ailey et al., 2003). Unfortunately ado-
a confidential relationship with him or her. For lescents with developmental disabilities often
many adolescents this transition occurs around do not receive information about sexuality and
ages 12–13 years. Health care checklists, cur- reproductive health. Professionals and parents
ricula, and tools can be found on the web site either lack the awareness to consider sexuality
for the National Health Care Transition Center as part of the adolescent’s normal growth and
(http://www.gottransition.org/). development or are fearful of discussing sen-
sitive issues and acknowledging vulnerability
Health Promotion (Murphy, 2005; Tice & Hall, 2008). This results
Good nutrition and regular exercise are the in an information gap that may increase the
basis of maintaining health. Adults with devel- chances of sexual exploitation and unintended
opmental disabilities have similar rates of obe- pregnancy. Youth with developmental disabili-
sity and risky behaviors (e.g., tobacco use) as ties are four times more likely to be sexually
people without disabilities but are less likely to abused or exploited than their typically develop-
participate in prevention programs or to receive ing peers (Dixon, Bergstrom, Smith, & Tarbox,
periodic cancer screening (Liptak, Kennedy, 2010; Bowman, Scotti, & Morris, 2010). Lack
& Dosa, 2010; Shireman, Reichard, Nazir, of knowledge of sexuality, lack of information
Backes, & Greiner, 2010). Adults with develop- on exploitation, cognitive deficits, poor social
mental disabilities are also at risk for prevent- skills, poor self-esteem, and poor body image
able secondary conditions such as osteoporosis are some of the factors that place adolescents
and decubitus ulcers (bed sores). Early and with developmental disabilities at increased risk
sustained participation in community-based (Bowman, Scotti, & Morris, 2010; Dixon, Berg-
programs is essential for adolescents to main- strom, Smith, & Tarbox, 2010).
tain healthy lifestyles beyond the school years
(Bazzano, Zeldin, Diab, Garro, Allevato, & Mental Health
Lehrer, 2009). Individuals with developmental disabilities are
Leisure activities are particularly impor- at a higher risk for developing mental health
tant for young adults with developmental dis- problems than their typically developing peers
abilities, who tend to become socially isolated. (see Chapter 29). This so-called “dual diagno-
People with developmental disabilities requir- sis” affects nearly 40% of children with intellec-
ing extensive to pervasive support (severe to tual disability, compared to 8% in the general
population (Emerson, 2003). Children with and their families about physical symptoms of
autism have even higher rates of mental health anxiety and depression, such as altered sleep
disorders. Specific phobias and obsessive- patterns and appetite. Professionals should also
compulsive disorder are very common in chil- monitor excessive school absences as these may
dren with autism who are dually diagnosed be evidence of a mental health issue.
(DD; Leyfer et al., 2006). Children with cere- Environmental factors should be con-
bral palsy are not reported to have increased sidered as precipitants when adolescents with
rates of psychiatric diagnosis, compared to the developmental disabilities present with challeng-
general population; however, ascertainment ing behaviors. For example, it is not unusual for
may be problematic in this population. Boys and an adolescent with developmental disabilities to
teens have higher rates of dual diagnosis than experience anxiety when a long-time aide is no
girls and younger children. For intellectual dis- longer available at school or when opportunities
ability, factors associated with an increased risk to socialize diminish with high school gradu-
of psychopathology include, in addition to age ation. Surgery, a prolonged hospitalization, or
and gender, social deprivation, family composi- medical setbacks can also precipitate depressive
tion, number of potentially stressful life events, episodes. It should be emphasized that behaviors
the mental health of the child’s caregiver, and that occur across all settings are more likely to
family functioning (Emerson, 2003). Among be due to organic causes. Treatments can include
adults with developmental disabilities, the psychological, behavioral, and/or environmen-
prevalence of mental illness is approximately tal interventions along with pharmacotherapy,
four times higher than that found in the general if needed. Quality-of-life spheres should not be
population (Rush et al., 2004). Substance abuse, overlooked. Community-based models of sup-
however, affects approximately 2% of the DD port combined with neuropsychiatric interven-
population which is lower than in the general tion can be a potent therapeutic approach in the
population (Slayter, 2010). The proportion of management of challenging behaviors in indi-
anxiety and mood disorders are similar to the viduals with developmental disabilities (Ferrell
general population. Rates for psychosis are et al., 2004).
higher (Deb, Thomas, & Bright, 2001).
Despite the high reported rates of dual
diagnosis, the proper diagnosis of mental illness SUMMARY
in a person with intellectual or other develop- Health care providers, educators, other profes-
mental disabilities remains a challenge. Reiss, sionals, and families must foster the expectation
Levitan, and Szyszko (1982) termed one major that youth with developmental disabilities will
obstacle “diagnostic overshadowing.” This become healthy, happy, active, and productive
refers to the tendency clinicians have to attri- members of their community. Youth should be
bute all the behavioral and emotional problems provided with opportunities to learn about their
to the developmental disability rather than to strengths, abilities, skills, needs, and interests.
a comorbid mental illness. Another problem is They should also be allowed to take risks and to
that many professionals in the field of mental learn from failure. They should assume respon-
illness simply do not have training or experi- sibility for themselves and understand the dif-
ence in the field of developmental disabilities ference between the protected worlds of school
(Fletcher, Loschen, Stavrakaki, & First, 2007). and home and the worlds of work and adult life.
Most service systems for people with devel- Most of all, they must believe they are capable
opmental disabilities are oriented to chronic of success. These goals can be accomplished
care and long-term support, and provide lim- through comprehensive transition planning and
ited, if any, services for acute mental health advocacy, including self-advocacy, to promote
crises. Emergency mental health services are full participation in society.
typically geared to the needs of the general pop-
ulation. Access to preventive mental services is
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age distribution of federally administered awards, by sex, Geneva, Switzerland: Author.
41 Health Care
Delivery Systems
and Financing Issues
Angelo P. Giardino and Renee M. Turchi

■ Define the term children and youth with special health care needs and under-
stand the impact of this diagnosis on health care delivery and financing issues
■ Describe the complexity involved in developing a system that adequately coor-
dinates various services and supports for these children
■ Explain the importance of the medical home and care coordination in caring for
children and youth with special health care needs
■ Discuss trends in insurance coverage in the provision of health care to these
children
■ Describe how public health care programs and benefits contribute to these
children and their families
The federal Maternal and Child Health Bureau health care needs, and 22% of U.S. households
(MCHB) defines children and youth with spe- with children include at least one child or youth
cial health care needs (CYSHCN) as “those with a special health care need (U.S. Department
who have or are at increased risk for a chronic of Health and Human Services [USDHHS],
physical, developmental, behavioral or emo- 2007). The NS-CSHCN survey confirms that
tional condition and who also require health and CYSHCN is a diverse group comprised of all
related services of a type or amount beyond that races, ethnicities, ages, family incomes, and levels
required by children generally” (McPherson et of functional abilities. Yet, not all children with
al., 1998). Developing a clear definition of chil- developmental disabilities have special health
dren and youth with special health care needs care needs, and not all CYSHCN have develop-
has fostered research investigating prevalence, mental disabilities. For example, children with
quality of care, and health outcomes for this pop- learning disabilities do not generally have special
ulation. According to the nationally representa- medical needs, and children with asthma, who
tive National Survey of Children with Special do have special medical needs, do not gener-
Health Care Needs (NS-CSHCN), conducted ally have developmental disabilities. Therefore,
in 2005–2006, 14% of U.S. children and youth the term CYSHCN includes both a subgroup
(birth through 17 years of age) have special of children with developmental disabilities (e.g.,
705
706 Giardino and Turchi
cerebral palsy, meningomyelocele) and a group educators, mental health providers, and home
of typically developing children with complex health providers (Wells et al., 2000). Table
medical problems (e.g., hemophilia, diabetes, 41.2 lists specific health services utilized by the
severe asthma; Davis et al., 2007). Understand- CYSHCN represented in the 2005–2006 NS-
ing the similarities and differences between the CSHCN.
groups informs clinical decision making, policy An Institute of Medicine (IOM, 2001)
development, and resource allocation. However, report a decade ago suggested that the frag-
each group shares similarities around health care mentation of health care in the United States
structure, processes, policies, and outcomes. In jeopardizes quality of care. In order to address
addition, there is cohort of children that fall into this, all children, whether with a disability or
both groups (having a developmental disability typically developing, should be provided com-
and complex medical problems). Table 41.1 lists prehensive health care that is coordinated and
the more common diagnoses found among the occurs within a “medical home” framework that
CYSHCN represented in the 2005–2006 NS- is described more fully below. Recently, four
CHSCN. medical organizations have issued a joint state-
Developing an effective health care system ment calling for the medical home principles
(which includes a medical home) for CYSHCN to be extended to all primary care for children,
is the focus of this chapter. Optimal functioning youth, and adults throughout the United States.
of high performing, quality medical home and They refer to this care model as the patient-
care coordination systems are paramount for centered medical home (Joint Principles, 2007).
CYSHCN. Several of the core features of this
system, however, are important for all children.
Yet, CYSHCN may require an array of services
THE CONCEPT OF
beyond the primary care doctor, including those A MEDICAL HOME
provided by specialists, therapists, pharmacists, To help families with care coordination and to
improve care, the American Academy of Pedi-
Table 41.1. Percent of children with special health atrics (AAP; 1992) called for all children to have
care needs with selected conditions
Health conditions Percent Table 41.2. Percent of children with special health
care needs needing specific health services
Allergies 53.0%
Specific health care needs Percent
Asthma 38.8%
Prescription drugs 86.4%
Attention deficit disorder/attention- 29.8%
deficit/hyperactivity disorder Preventive dental care 81.1%
Depression, anxiety, or other emo- 21.1% Routine preventive care 77.9%
tional problems
Specialty care 51.8%
Migraine or frequent headaches 15.1%
Eyeglasses/vision care 33.3%
Intellectual disability 11.4%
Mental health care 25.0%
Autism or autism spectrum disorder 5.4%
Other dental care 24.2%
Joint problems 4.3%
Physical, occupational, or speech 22.8%
Seizure disorder 3.5% therapy
Heart problems 3.5% Disposable medical supplies 18.6%
Blood problems 2.3% Durable medical equipment 11.4%
Cerebral palsy 1.9% Hearing aids/hearing care 4.7%
Diabetes 1.6% Home health care 4.5%
Down syndrome 1.0% Mobility aids/devices 4.4%
Muscular dystrophy 0.3% Substance abuse treatment 2.8%
Cystic fibrosis 0.3% Communication aids/devices 2.2%
From U.S. Department of Health and Human Services, From U.S. Department of Health and Human Services,
Health Resources and Services Administration, Maternal Health Resources and Services Administration, Maternal
and Child Health Bureau. (2007). The National Survey and Child Health Bureau. (2007). The National Survey
of Children with Special Health Care Needs Chartbook of Children with Special Health Care Needs Chartbook
2005–2006 (p. 18). Rockville, MD: U.S. Department of 2005–2006 (p. 25). Rockville, MD: U.S. Department of
Health and Human Services. p. 18. Retrieved from http:// Health and Human Services. p. 25. Retrieved from http://
mchb.hrsa.gov/cshcn05/MI/NSCSHCN.pdf mchb.hrsa.gov/cshcn05/MI/NSCSHCN.pdf
Health Care Delivery Systems and Financing Issues 707
“a medical home that provides accessible, con- with a more comprehensive interpretation of
tinuous, comprehensive, family-centered, coor- the concept along with operational definitions
dinated, and compassionate health care in an of a medical home that would make recogniz-
atmosphere of mutual responsibility and trust ing care consistent with the medical home prin-
among clinician, child, and caregiver(s)” (Amer- ciples easier to identify. Table 41.3 describes the
ican Academy of Pediatrics Policy Statement, ideal medical home.
2002; Johnson & Kastner, 2005). The AAP Effective primary care has long been rec-
(2002) subsequently expanded the statement ognized as a valuable component for all children
Table 41.3. Attributes of the ideal medical home

Attributes Description
A medical home provides The family can obtain care in the community, and there are no barriers to
care that is accessible. receiving care based on race, ethnic, or cultural background; based on type
of health insurance, including Medicaid and the Children’s Health Insurance
Program (CHIP); or based on lack of insurance coverage. When families are
forced to change insurance because of employer decisions, the health care
practice makes an effort to accommodate the change and maintain continuity
of care.
The medical home is family Family members are recognized by the clinicians and staff as the principal care-
centered. givers and partners in caring for the child. Information is shared with parents
in an unbiased, ongoing, and complete manner. All care plans reinforce the
family as the center of support and decision makers for the child.
Care from a medical home Families and children value the ongoing relationship with primary care provid-
is continuous. ers, subspecialty clinicians, and staff. The medical home provides continu-
ity of care as the child and family make the transition from the hospital to
the community and to child care, to school, or to home-based care. The
continuity of care from infancy through young adulthood is the foundation of
the medical home; it allows the clinician to know the family and patient and
permits the family to trust the physician and his or her staff. This continuity
shapes clinical judgment so that unnecessary tests are avoided and psycho-
social factors can be weighed in decision making. The long-term relationship
finally fosters the young adult and family to make a smooth transition to
adult-based care with a new provider with support and information from the
pediatrician or pediatric nurse practitioner.
Primary care medical Families can receive health care or advice 24 hours per day, 7 days per week.
homes provide care that The child can receive preventive, acute, or chronic care within the scope and
is comprehensive. knowledge of the clinician. Because of the complexity of medical conditions
today, many children require appropriate referral to subspecialists for man-
agement of acute and chronic conditions.
Medical homes coordinate Not only are families assisted in contacting and utilizing appropriate support,
care. educational services, and community-based services, but also the care pro-
vided in hospital, ambulatory, and community settings is planned and coordi-
nated to the benefit of the family and child. Medical records, care plans, and
other information are shared between providers and across systems avoiding
duplication and fragmentation.
Medical homes are charac- The clinic- and office-based teams in the medical home demonstrate concern
terized by compassion. for the well-being of the child and family. This compassion is communicated
by every member of the staff and felt by the family.
Care in the medical home The medical home must be able to deliver care in cross-cultural situations;
also must be culturally therefore, the staff members must value diversity, be aware of how their own
competent. culture affects their thoughts and actions, understand the dynamics when cul-
tures interact, and have a practicewide cultural education program that helps
ensure culturally competent clinical care and service delivery.
Care delivered by the Primary care is community-based. Although children and families with special
medical home is health care needs often require care by subspecialists who may not be avail-
community-based. able in their own community, the medical home should be in the community
where the family lives whenever possible. The staff and clinicians of the
medical home coordinate and communicate with the subspecialists. In addi-
tion, other providers—including pediatric physical, occupational, speech, and
feeding therapists; home nursing staff; and providers of other important ser-
vices—should be available in the community or as close to home as possible.
Source: American Academy of Pediatrics (1992).
in the highly specialized, technology-dependent, IMPORTANCE OF

tertiary care–based health care delivery system COORDINATION OF CARE
in the United States. Starfield (1992) defined
primary care as health care that is first contact Given the many services that may be needed
(involving an initial physician to whom the fam- and the number of providers and professionals
ily goes to for routine and nonroutine care), potentially involved in coordinating the various
community-based (accessible), longitudinal health care services required by a CYSHCN,
(continuous), coordinated, and comprehensive. coordinating care is important for the child’s
In addition, primary care clinicians for children family and health care providers. The child’s
(e.g., community pediatricians, family physi- needs are complex, and a great deal of time,
cians, nurse practitioners) provide preventive energy, and skill are required to ensure that the
care such as well-child examinations; immuniza- different agencies, institutions, and profession-
tions; and vision, hearing, developmental, and als work effectively together in developing a
medical screenings. Primary care also includes comprehensive plan of care (AAP, 1998, 1999,
personalized care that demonstrates the clini- 2005). Required services may include some that
cian’s knowledge of the patient and family envi- are not traditionally seen as health related such
ronment, including work, personal, emotional as education and housing. Care coordination
and, at times, financial concerns. For the child can avoid both excessive services (e.g., unnec-
and family, often the primary care team’s medi- essary repeated imaging studies) and deficient
cal home coordinates care with the pediatric services (e.g., failure to arrange for medications
subspecialist(s), the school system, and com- to be provided at school). When provided, care
munity providers to ensure comprehensive care. coordination services are readily accepted by
In a few instances, the subspecialist assumes the families and minimize the burden of the child’s
majority of the responsibilities for the medical medical condition (Palfry et al., 2004).
home. In some unusual cases, the specialist may According to the NS-CSHCN in 2005–
also provide well-child care (e.g., for a child with 2006, 46% of parents of CYSCHN received
cystic fibrosis who is receiving care at a compre- coordinated care, 32% lacked one or more ele-
hensive center run by a pulmonologist). ments of coordinated care, and 22% felt they
Looking across several measures, the NS- did not need coordinated care. In response to a
CSHN in 2005–2006 sought to characterize question about their ability to get help in coor-
how many CYSHCN received care that could dinating their child’s care, 55% of parents did
be characterized as consistent with medical not report that they needed any help with care
home principles, namely “ongoing compre- coordination, 30% reported that they needed
hensive, coordinated, family-centered care in help and usually got it, and 15% reported they
the child’s community” (USDHHS, 2007, 46). needed help and did not get it (USDHHS,
On average, 47% of CYSCHN received care 2007). Care coordination can have a favorable
that met all of the following criteria, defined as impact on the family’s experience. An analy-
reflecting an effective medical home: sis of the NS-CSHCN in 2005–2006 found
that those children who received adequate
• The child/youth has a personal doctor or
care coordination had an increased chance of
nurse as well as a usual source of sick and
receiving family-centered care, experiencing
well-child care and has not had problems
partnerships with professionals and indicating
obtaining needed referrals.
satisfaction with services (Turchi et. al, 2009).
• The family is satisfied with the doctors’ Care coordination can also result in cost
communications with each other, the school, savings and decreased hospital stays (Liptak et
and other related systems and receives help al., 1998; Palfrey et al., 2004). Despite this value
coordinating the child’s or youth’s care when in reducing health care costs, more than half of
needed. the time that a health care provider spends with
• The doctor spends enough time with the CYSHCN may involve care coordination that
child/youth, listens carefully, and is sensitive is not reimbursed by insurance (Antonelli &
to the family customs and provides enough Antonelli, 2004; Antonelli, Stille, & Antonelli,
information. 2008). Even when care coordination is available,
• The parents feel like a partner in the child’s many services may not be located in convenient,
or youth’s care and receive interpretation community-based settings, thus further deplet-
when needed. ing the family’s energy and resources.
In an attempt to deal with these issues, to CYSCHN, namely the Medical Home Index
insurers, hospitals, and public and private agen- (MHI). The MHI is a quality improvement tool
cies have developed case management programs. that captures 25 dimensions of being a medi-
The purpose and scope of these programs, how- cal home and organizes them into six domains:
ever, vary with agency type and often are not 1) organizational capacity, 2) chronic condition
focused on the overall coordination of care. As management, 3) care coordination, 4) commu-
an example, a hospital case management pro- nity outreach, 5) data management, and 6) qual-
gram generally deals with patients at one point ity improvement that generates a standardized
in time (i.e., at discharge from a hospital stay) score. The higher the MHI score is, the more
and does not address the patient’s needs beyond “medical home-like” is the care being deliv-
that episode. Hospitals currently use case man- ered. In a study of MHI scores collected from
agers principally to provide information to pay- 43 primary care practices from 7 health plans
ers and assist with discharge planning. In the across 5 states, higher MHI scores and higher
era of health care reform, however, the case individual domain scores were associated with
manager’s job description may broaden in the increased organizational capacity, care coor-
context of an accountable care organization dination, and chronic condition management,
(ACO; Watson, 2011). Case managers work- and with significantly fewer hospitalizations.
ing for insurers and managed care organiza- Higher chronic condition management scores
tions (MCOs) typically focus more on benefits were also associated with fewer emergency
management and resource utilization and less department visits (Cooley et al., 2009).
on care coordination, although some Medicaid
MCOs do organize and coordinate a broader CHANGES IN FINANCING
package of benefits (Abt Associates, 2000). Many
social agencies and public programs provide
HEALTH CARE FOR CYSHCN
case management services as these are often There are several perspectives on what con-
mandated by public policy. Title V programs, stitutes an optimal care system for CYSHCN.
which are state programs for CYSHCN that are These are synthesized and listed in Table 41.4.
funded via block grants from the MCHB, have For most of its history, the health care system
a special mandate to monitor and provide care in the United States utilized a fee-for-service
coordination, but programs vary from state to model in which the health care provider
state (USDHHS, 2008). received a payment for each unit of service ren-
Although Medicaid payment for case man- dered (MacLeod, 2001). The typical payment
agement may be allocated for a child, families was based on a “usual and customary” charge
may find that their case manager lacks neces- for the service. This system was a retrospec-
sary medical knowledge or does not commu- tive payment system. Payment was made after
nicate adequately with their child’s clinicians. the service was rendered; it typically focused
Many specialty programs in children’s hospitals on sick care; and there was little incentive to
have nurse specialists who help coordinate the deliver preventive services. This approach was
medical care. These specialty-based care coor- criticized because of its potential to encourage
dinators may have comprehensive information health care professionals to provide too many
about the particular disorder (e.g., diabetes) acute care services (i.e., overutilization). In
but may lack knowledge about community or response to skyrocketing costs, the U.S. health
primary care level resources and other aspects care system experienced a revolution in the
of comprehensive medical care. This points later years of the 20th century, and it continues
to the importance of providing care coordina- to evolve toward a prospective, or prepayment,
tion at the community practice (medical home) approach. If structured correctly, the prospec-
level. One of the few estimates of the cost of tive approach would encourage “appropriate”
providing care coordination services in a com- utilization, be focused on well and preventive
munity-based practice suggested that although services, and avoid utilization of unnecessary
substantial, it is not cost prohibitive (Antonelli services (Deal, Shiono, & Behrman, 1998;
& Antonelli, 2004). Wagner, 2001). This is a particular issue for
Does the increased cost of the coordinated CYSHCN, whose health care costs may be
care found in a medical home produce better as high as three times that of children in the
outcomes? In one study, the answer appears to general population (Newacheck & Kim, 2005).
be “yes” (Cooley et al., 2009); it used a measure Table 41.5 compares expenditures and utiliza-
of determining the consistency between the tion for health care services for CYSHCN with
medical home principles and the care delivered those for typically developing children.
Table 41.4. Components of an optimal care sys- be responsible for the financial loss. The founda-
tem for children with special health care needs tion of ACOs lies in the primary care medical
• Integration of primary and specialty care in a way home and if adopted, will drive the health care
that combines the expertise of the specialists financial discussion in the next decade.
with the breadth of perspective provided by a
generalist Insurance Coverage:
• Integration of medical care with home- and
community-based services, effectively linking the
Public and Private
person with visiting nurses, Meals on Wheels, Access and use of health care services is affected
transportation, respite care, housekeeping, educa- by insurance coverage, family income, and
tional, and housing services sociodemographic factors (Blumberg & Carle,
• Integration of patient and family perspectives into 2009; Singh et al., 2009). Health insurance for
the care process and planning, using patient-
centered communication and a consumer-oriented all Americans younger than age 65 is primar-
focus to service delivery ily private or commercial insurance provided by
• Emphasis on functional status and quality of life employers. The number of workers receiving
so systems are tracked to be accountable for their employer-provided insurance, however, contin-
effectiveness ues to decline, with a resultant reduction in the
• Improved screening and risk assessment to identify number of children covered under such plans
children early, when specialized services develop-
mentally have the most effect
(Children’s Defense Fund, 2004). Employer-
• Individual and group health education targeted
sponsored health insurance coverage continues
to improve self-care skills and appropriate use of to decline in the present decade (Gould, 2011).
health care services As employer-based insurance coverage for
• Flexible gatekeeping that allows children and children declines, coverage from public forms
families access to a variety of services on a limited of insurance tends to increase. If this increase
basis without prior authorization occurs at a slower rate than the decrease in pri-
• Comprehensive case management moving vate insurance, it results in an expanding num-
beyond benefit management and achieving real
case coordination ber of uninsured children.
• Coordination with public health, education, and To avoid the problem of uninsured chil-
social services, including collaborative arrange- dren, the federal government has developed
ments, to organize and provide services several publicly funded insurance programs that
• An understanding of the differences between provide avenues for children to receive health
adult and childhood disability and the need for care coverage. Table 41.6 lists each program.
managed care models to be flexible in meeting
pediatric needs
In 1965, Medicaid was launched. Medicaid
• Access to a medical home
is a jointly funded federal/state program that
• Fair reimbursement that compensates physicians
serves as a societal safety net for children who
for the increased time and complexity associated are inadequately covered by private insurance,
with care coordination (sometimes referred to as who do not have private insurance, or who meet
risk-adjusted rates in capitated systems) other eligibility criteria. It should be noted
• Viable systems of monitoring the care delivered that coverage under Medicare, the other kind
Sources: American Academy of Pediatrics (1998); McMa- of public insurance, is uncommon in children
nus and Fox (1996a, 1996b); Sandy and Gibson (1996). except for those with end-stage kidney disease.
In addition, Congress created the Children’s
One of the principal proposals of health Health Insurance Program (CHIP) in 1997 and
care reform is the development of accountable reauthorized it in 2009. CHIP provides states
care organizations (ACOs). An ACO is defined with an incentive to extend health care cover-
as “a group of physicians, other healthcare pro- age to uninsured children who do not qualify
fessionals hospitals, and other healthcare provid- for traditional Medicaid (Deal & Shiono, 1998;
ers that accept a shared responsibility to deliver Eskin & Ranji, 2009). Many states have CHIP
a broad set of medical services to a defined set programs (also called SCHIP) with coverage
of patients across the age spectrum and who are that deviates from that of Medicaid. One study
held accountable for the quality and cost of care concluded that CHIP coverage may not be suf-
provided through alignment of incentives” (Joint ficient to care for CYSHCN, suggesting that
Principles Statement on ACOs, 2011). The care coordination and reviewing of insurer’s
ACO would be given annual funding on a per- coverage decisions should be integrated into
capita basis for providing comprehensive care. CHIP program design (Markus et al., 2006).
In this shared-risk model, if the ACO does not Despite the availability of public coverage via
need to expend all the money, it is permitted to Medicaid and CHIP, there are children who do
keep a portion; however, if it spends more it must not have adequate health insurance coverage
Table 41.5. Comparison of health care expenditures and utilization between children and youth with special
health care needs and children without disabilities
Children and youth
with special health Children without
Category care needs disabilities Comparison
Hospital days 464 days/1,000 55 days/1,000 8 times higher
Physician visits 4.6 visits/year 1.9 visits/year 2 times more visits
Nonphysician 3 visits/year 0.6 visits/year 5 times more visits
professional visits
Prescriptions 6.2 medications/year 1.8 medications/year 3 times the number of
prescriptions
Home health 3.8 days/year 0.04 days/year 95 times more days
provider days
Health care $2,669/year $676/year 4 times the cost
expenditures
Out-of-pocket $297/year $189/year 1.5 times the cost
expenditures
Source: Newacheck, Inkelas, and Kim (2004).
Secondary data analysis of 1999 and 2000 Medical Expenditure Panel Survey, with total sample of 13,792 children
younger than 18 years of age and overall response rate of 65.5%. All comparisons are statistically significant.
(Children’s Defense Fund, 2004; Newacheck, time period CYSCHN were more likely than
Halfon, & Inkelas, 2000). children in the general population to have insur-
The federal and state governments provide ance coverage. Only 3.5% of CYSCHN were
several other avenues for CYSHCN and their uninsured at the time of the survey, and only
families to gain access to a range of health care 8.8% had been uninsured at any time in the 12
services and funding for these services. These months prior to the survey (USDHHS, 2007).
include 1) the Social Security Administration’s This compares to a 2006 national overall esti-
Supplemental Security Income (SSI) program, mate of 11.6% of children being uninsured in
which provides income support and/or access the United States (Children’s Defense Fund,
to Medicaid; 2) the MCHB’s Title V programs, 2007).
which provide services (e.g., case management) The NS-CSHCN also assessed the type of
beyond the covered Medicaid services; 3) and insurance held by children with special needs
the Individuals with Disabilities Education and found that 59% had solely private insurance
Improvement Act of 2004 (IDEA 2004; PL provided by an employer, union, or directly
108-446), which links educational and health from an insurance company; 28% had solely
care needs with Medicaid funding. In practical public insurance; 7% had a combination of pri-
terms, these programs may demonstrate con- vate and public insurance; 4% were uninsured;
siderable state-to-state variability in eligibility and 2% had various forms of comprehensive
criteria, types of services covered or offered, coverage (USDHHS, 2007). Comparing the
and amount of care provided. 2005–2006 administration of the NS-CSHCN
Private–public insurance coverage issues with a previous version done in 2001 demon-
and programmatic variability further com- strates a decreasing trend for CYSHCN hav-
plicate the task of fashioning care plans for ing private insurance. In fact, 65% had private
CYSHCN. Children and families experience insurance in 2001 versus 59% in 2006; and
this variability most acutely when navigating while 22% had public coverage in 2001, 28%
through and around a number of agencies, had this coverage in 2006.
institutions, and providers, each with its own Additionally, while two thirds of parents of
set of eligibility requirements, regulations, and CYSHCN responded that their child’s coverage
service provisions that may or may not meet the was adequate, one third thought coverage was
child’s needs. In addition, publicly funded pro- usually or always inadequate (USDHHS, 2007).
grams are coming under increased scrutiny as The adequacy of insurance coverage varied as
legislative and budgetary debates focus on cost a function of the type of insurance. Parents of
cutting efforts (Reichard, 2011; Smith, 2004; CYSCHN who had only public insurance were
White et al., 2005). less likely to view the insurance as inadequate
The NS-CSHCN also assessed insurance compared to parents who had both private and
coverage and found that during the 2005–2006 public insurance (USDHHS, 2007). In addition,
Table 41.6. Overview of assistance programs for children with special health care needs
Program Description
Supplemental Security Income SSI provides benefits to low-income people who meet financial and other
(SSI) eligibility requirements. SSI qualifies children and adults (including
those with disabilities) for Medicaid health care services in many states.
Medicaid Medicaid provides low-income individuals access to health coverage.
States are mandated to cover a core set of benefits (e.g., hospital;
outpatient physician services; laboratory and x ray; basic home health
services; and early and periodic screening, diagnosis, and treatment
[EPSDT]). EPSDT requires states to cover all medically necessary ser-
vices for children, even those optional for adults.
Children’s Health Insurance CHIP funds states to insure children from working families with incomes
Program (CHIP) too high to qualify for Medicaid but too low to afford private health
insurance.
Title V Provides children with special health care needs and their families with
family-centered, coordinated, and community-based services, such
as case management or care coordination, transportation, home visit-
ing, and health education. Also, Title V helps to provide wraparound
services (individualized direct services designed to support a child in
his or her home, school, and community) and provides rehabilitation
services for individuals younger than 16 who are blind or who have dis-
abilities and who receive SSI. Title V may also provide partial funding
for categorical programs (e.g., for children with spina bifida, cerebral
palsy, sickle-cell disease, hemophilia).
Individuals with Disabilities IDEA guarantees all students with disabilities ages 3–21 the right to a
Education Improvement Act of free appropriate public education in the least restrictive environment.
2004 (IDEA 2004; PL 108-446) It also provides federal funds to states and local school districts to help
pay the costs of special education, including related services such as
speech-language and physical therapy.
Sources: U.S. Department of Education, Office of Special Education Programs (2010); U.S. Department of Health and
Human Services, Centers for Medicare & Medicaid Services (2010-a); U.S. Department of Health and Human Services, Centers
for Medicare & Medicaid Services (2010-b); U.S. Department of Health and Human Services, Health Resources and Services
Administration, Maternal and Child Health Bureau (2010); and U.S. Social Security Administration (n.d.).
the NS-CSHCN assessed the financial impact parents reported that their CYSHCN did not
on families of having a child with CYSHCN. receive at least one needed specialty service in
Eighteen percent of parents reported that their the previous year, and 6% responded that they
child’s condition caused financial problems for did not receive two or more services. Of note,
the family. Twenty percent of parents reported only 3% reported not receiving any specialty
more than $1,000 of out-of-pocket expendi- care (USDHHS, 2007).
tures per year, and 24% percent of parents Wagner (1998) has proposed a chronic care
indicated that they had to cut back or quit work model, based on experience and existing litera-
in order to provide care for the child or youth ture focusing on patient–provider interactions;
(USDHHS, 2007). the model is believed to result in improved
The findings in the literature regarding care to both adults with chronic illnesses and
the impact of various health benefit design CYSHCN. The model underscores how favor-
approaches on children in general and those able outcomes for patients, families, and prac-
with special health care needs in particular tice teams ensue when the medical home works
are equivocal (Mitchell & Gaskin, 2004; Szila- in partnership with community resources and
gyi, 1998). While some plan designs can suc- policies. See Figure 41.1 for a graphic repre-
cessfully reduce inpatient hospital bed days sentation of Wagner’s chronic care model. The
and emergency department usage, the impact characteristics of this care model include:
on primary care in the outpatient setting and • Providing care in the context of a medical
access to specialists is less clear. One persistent home
concern around serving CYSHCN is that man-
aged care organizations (MCOs) may reduce • Having processes and incentives to improve
access to specialty services, especially when they the care delivery system
involve high-cost procedures (Szilagyi, 1998). • Having information technology and clinical
In the 2005–2006 NS-CSHCN survey, 16% of decision support for clinicians
Chronic Care Model for Child Health in a Medical Home
Health System
Community Health Care Organization (Medical Home)
Resources Care Delivery Clinical
Decision
and Partnership System Information
Support
Policies Support Design System
supportive, integrated informed, activated prepared, proactive

community patients / family practice team
family-centered, evidence-based coordinated and equitable

timely, efficient and safe
functional and clinical outcomes
Figure 41.1. A modification of the Wagner Chronic Care Model to reflect the unique aspects of of children with special health
needs as defined by the National Initiative for Children’s Healthcare Quality and to reflect the Institute of Medicine’s quality of
domain. (From Wagner, E.H. [1998], Chronic Disease Management: What Will It Take To Improve Care for Chronic Illness? Effec-
tive Clinical Practice, Aug/Sept 1998, Vol 1; adapted by permission.)
• Assuring a focus on effective self-manage- responsibility for Medicaid, has established a

ment training and support set of safeguards promoting attention to the
• Organizing team activities and practice sys- unique aspects of caring for CYSHCN in a
tems around the unique needs of children, managed care environment. To deal with this
youth, and adults with chronic conditions issue, some states have conceived of “carve-
• Utilizing appropriate evidence-based guide- outs” for these children, in which the child is
lines in a measurable manner handled separately from the general popula-
tion. CYSHCN also may be eligible for various
• Fostering increased communication between
Medicaid waivers, including 1) the Home and
primary care and specialty care providers
Community-Based Services Waiver (HCBS),
• Utilizing information systems in a way that sometimes referred to as a 1915(c) waiver, and
produces disease registries, tracking systems 2) the Katie Beckett waiver (Peters, 2005). Both
and reminders about important care needs essentially waive (or permit exceptions to) cer-
• Providing care in the environment of a patient- tain federal requirements to provide home and
and family-centered medical home community-based services as an alternative to
Beyond the chronic care model, additional institutionalization or continued hospitaliza-
innovations in health care delivery models have tion. Such waivers, for example, may permit a
emerged over the last several years including family with a CYSHCN to receive Medicaid in
ACOs, health insurances exchanges, and models order to have health care services and support
for health care delivery. For example, Boden- for keeping that child at home rather than in
heimer and Laing (2007) proposed the use of a a hospital or chronic care facility. One advan-
“teamlet model” where the dyad of a practitio- tage of the waivers is that family income may
ner and a medical assistant/health-care coach be exempted from consideration in determin-
provides care collaboratively with patients to ing eligibility for Medicaid. The waivers are
improve health-care delivery and quality. state-run programs, however, so each state has
The Centers for Medicare & Medicaid different approaches to waivers with different
Services (CMS), which has federal oversight eligibility requirements or services.
LOOKING TOWARD THE FUTURE coordination) hold promise for the future of
primary care. Innovations in how we deliver
Measuring outcomes and demonstrating high and measure health care quality are paramount
quality results (e.g., pay-for-performance mod- to insure that all Americans have equal access to
els) will become increasingly important in justi- health care within a medical home.
fying the enhanced service delivery and higher Classically, the measurable dimensions of
costs for CYSHCN (Palfry et al., 2004). This health care quality are the structure, the process,
will require rigorous collection of data on the and the actual outcomes (Donabedian, 1980).
health care services delivered and analysis of the Structure, from a quality and health services
data using increasingly sophisticated health ser- perspective, describes aspects of the health care
vices techniques. system such as facilities, staffing patterns, and
The United States spent over $2.3 trillion qualifications. Process in this context deals with
dollars on health care in 2008 without improved the policies and procedures that govern aspects
outcomes compared to other countries that of care, such as technical and professional skills,
were spending fewer dollars for their popula- documentation of care, safety practices, and the
tion (CMS, 2011). Then, the year 2010 made use of assessment tools. Finally, outcomes deal
history in the United States as The Patient with the health status of the people served, their
Protection and Affordable Care Act (ACA) was health-related knowledge and behavior, and their
signed by President Barack Obama. The recent satisfaction with the care they receive (Mona-
health care debate and reform provides hope han & Sykora, 1999). Table 41.7 lists the types
that health care transformation will continue of quality questions that can be answered when
for CYSHCN and will improve access and looking at structure, process, and outcomes,
quality as well as reduce costs (Palfrey & Hall, and Table 41.8 outlines potential problems with
2010). States across the nation are operational- assessing outcomes. Related to quality improve-
izing the Affordable Care Act in unique ways. ment and outcomes measurement, the MHI,
Many models and ideas are being brought forth mentioned above, is a validated tool that offers a
to ensure adequate coverage of children and vehicle to measure six domains of a functioning
adults, without compromising quality. Models medical home and provides a readily available
such as ACOs, health insurance exchanges, and framework from which to trend results (http://
innovative infrastructure (e.g., teamlets, care www.medicalhomeimprovement.org).
Table 41.7. Quality indicators in health care and the questions they address
Dimension Indicators examined Examples of questions
Structure Facilities Are primary care and specialty care
Equipment clinics and hospitals accessible?
Conformance to standards How is the service delivery system
structured?
Staffing patterns
Do clinicians providing care communi-
Personnel qualifications and
cate with each other?
experience
Are the health care professionals well
Organizational structure descriptions
educated, well trained, and board
Financing patterns certified?
Are medical records well maintained?
Process Technical and professional skill Was the blood test for lead done for a
Documentation of care child at risk for lead poisoning?
Safety practices Was the child with asthma treated in
the most up-to-date manner?
Monitoring assessment tools
Outcome Health status Did the patient get better?
Health-related knowledge Was the impact of the disability
Health-related behavior reduced?
Satisfaction with care Does a child with special health care
needs have the highest level of func-
tioning possible given what is known
to be possible? If not, why not?
Source: Monahan & Sykora (1999).
Note: Not all outcomes are the result of purely clinical decision making. Clinicians need to acknowledge that parents of
children with special health care needs and other consumers of health care also consider personal preferences and experi-
ence when making health care plan choices.
Table 41.8. Potential problems with assessing org/online/etc/medialib/aaf p_org/documents/

outcomes policy/private/healthplans/payment/acos/20101117.
Par.0001.File.tmp/AAFP-ACO-Principles-2010.pdf.
Self-limited conditions may improve or resolve on American Academy of Pediatrics. (1992). American
their own/even without therapy over time, so Academy of Pediatrics Ad Hoc Task Force on Defi-
attributing the improvement to the treatment nition of the Medical Home: The medical home
may be difficult. (RE9262). Pediatrics, 90, 774.
Treatment of some chronic conditions is only American Academy of Pediatrics. (1998). Managed care
partially effective and is not expected to be cura- and children with special health care needs: A subject
tive, so the presence of the condition cannot be review (RE9814). Pediatrics, 102, 657–660.
used as a measure because the diagnosis does American Academy of Pediatrics. (1999). Care coordi-
not change even though the treatment makes an nation: Integrating health and related systems of care
improvement. for children with special health care needs (RE9902).
Lack of understanding of the natural history of some Pediatrics, 104, 978–981.
chronic conditions leads some authorities to American Academy of Pediatrics. (2002). Medical Home
disagree on what is expected and what the result Initiatives for Children with Special Needs Project
of therapy should be. Advisory Committee: The medical home. Pediatrics,
External factors that may be involved in improve- 110, 184–186.
ment, such as supportive family involvement American Academy of Pediatrics. (2005). Council on
and the responsiveness of community supports, Children with Disabilities: Care coordination in the
are not easily measured but surely can have an medical home: Integrating health and related systems
impact on outcome. of care for children with special health care needs.
Pediatrics, 116, 1238–1244.
Source: Monahan & Sykora (1999). Antonelli, R.C., & Antonelli, D.M. (2004). Providing a
medical home: The cost of care coordination services
in a community-based general pediatric practice.
SUMMARY Pediatrics, 113(5), 1522–1528.
Antonelli, R.C., Stille, C.J., & Antonelli, D.M. (2008).
Given the many services needed and the num- Care coordination for children and youth with spe-
cial health care needs: A descriptive, multisite study
ber of providers and professionals involved, of activities, personnel costs, and outcomes. Pediat-
coordinating health care services for CYSHCN rics, 122, e209–e216.
presents a unique challenge to the child’s fam- Bodenheimer, T., & Laing, B.Y. (2007). The teamlet
ily and health care providers. The complexity of model of primary care. Annals of Family Medicine, 5,
the child’s needs necessitate a great deal of time, 457–61,
Blumberg, S.J., & Carle, A.C. (2009). The well-being of
energy, and skill to coordinate the efforts of dif- the health care environment for CSHCN and their
ferent agencies, institutions, and profession- families: A latent variable approach. Pediatrics, 124(4),
als so that they work effectively together in a S361–7.
comprehensive plan of care. This coordination Center for Medical Home Improvement.CMHI. http://
www.medicalhomeimprovement.org/index.html
is particularly complex because of the labor- Centers for Medicare and Medicaid Services, Office of
intensive nature of the comprehensive case the Actuary, National Health Statistics Group. (2011).
management necessary and because the child’s National Health Care expenditure Data. Retrieved from
needs may span a range of services, including www.cms.gov/NationalHealthExpendData.
some that are not traditionally seen as health- Children’s Defense Fund. (2004). CDF calls on country
to insure all children during “cover the uninsured week.”
related. Further complicating matters are the Washington, DC: Children’s Defense Fund.
many federal and state agencies and programs Children’s Defense Fund. (2007). In harm’s way: True
involved in providing and funding services and stories of uninsured texas children. Available at http://
the revolutionary changes currently occuring in www.childrensdefense.org/child-research-data-pub-
lications/data/in-harms-way-true-stories-of-unin-
the heath care marketplace. All of this points to sured-texas-children.pdf
the importance of each child having a medical Cooley, W.C., McAllister, J.W., Sherrieb, K., &
home and effective case management to assist Kuhlthau, K. (2009). Improved outcomes associated
the family in navigating this system. with medical home implementation in pediatric pri-
mary care. Pediatrics 124(1), 358–364. doi:10.1542/
peds.2008–2600
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Effective Clinical Practice, 1, 2–4. tion with Duke University.
A Glossary
Arlene Gendron
AAC See augmentative and alternate commu- acquired immunodeficiency syndrome

nication. (AIDS) Severe immune deficiency disease
ABA See applied behavior analysis. caused by human immunodeficiency virus
abducens nerve The sixth nerve; controls (HIV).
the lateral resctus eye muscle. actin Protein involved in muscle contraction.
abduction Moving part of the body away acute inflammatory peripheral neuropathy
from one’s mid-line. The most common form is Guillain-Barre
ABR See auditory brainstem response. syndrome. It involves an ascending paraly-
abruptio placenta Premature detachment of sis, with weakness beginning in the feet and
a normally situated placenta; also called pla- hands and migrating towards the trunk. It can
cental abruption. cause life-threatening complications, particu-
abscesses Localized collections of pus in larly if the breathing muscles are affected or if
cavities caused by the disintegration of tissue, there is dysfunction of the autonomic nervous
usually the result of bacterial infections. system. The disease is usually triggered by an
accommodation 1) In special education, a acute infection.
change in how a student gains access to the adaptive technology Substitutes or makes up
curriculum or demonstrates his or her learn- for the loss of function brought on by a dis-
ing. This approach does not substantially ability (e.g., software that permits voice pro-
alter the content or level of instruction (e.g., duction through a computer for an individual
allowing a student additional time to take a who cannot speak).
test); 2) the change in the shape of the lens adduction Moving a body part, usually a
of the eye that allows it to focus on objects at limb, toward the mid-line.
varying distances. adenine One of the four nucleotides (chemi-
acetabulum The cup-shaped cavity of the cals) that comprise DNA.
hip bone that holds the head of the femur in adenoid Lymphatic tissue located behind the
place, creating a joint. nasal passages.
acetylcholine A neurotransmitter for cho- adenoidectomy The surgical removal of the
linergic neurons that innervate many tissues, adenoids.
including smooth muscle and skeletal muscle. adenoma sebaceum Benign cutaneous
acid–base balance In metabolism, the ratio growths, usually seen around the nose, that
of acidic to basic compounds (or pH). resemble acne; these occur in individuals with
acidosis Abnormally high levels of acid in the tuberous sclerosis (see Appendix B).
bloodstream. The normal pH is 7.42; acidosis adenotonsillectomy Surgical removal of
is generally less than pH 7.30. adenoids and tonsils.
719
720 Gendron
adjustment disorders A group of psychiat- amblyopia Partial loss of sight resulting

ric disorders, usually of childhood, associated from disuse atrophy of neural circuitry dur-
with difficulty adjusting to life changes. ing a critical period of development, most
adrenaline A potent stimulant of the auto- often associated with untreated strabismus
nomic nervous system. It increases blood in children.
pressure and heart rate and stimulates other amino acid Building block of protein needed
physiological changes needed for a “fight or for normal growth.
flight” response. amino acid disorders Inborn errors of
advance directives In children with severe metabolism resulting from an enzyme defi-
disabilities or diseases, the term is used to ciency involving amino acids, the building
define the level of intervention a parent wants blocks of protein.
provided in the event of life-threatening amniocentesis A prenatal diagnostic proce-
emergency or illness in the child. dure performed in the second trimester in
AED See automated external defibrillator. which amniotic fluid is removed by a needle
afferent Pertaining to the neural signals sent inserted through the abdominal wall and into
from the peripheral nervous system to the the uterine cavity.
central nervous system (CNS). Sensory fibers amniotic fluid Clear fluid that surrounds
carry signals from muscles, skin, and joints the fetus during pregnancy, acting as a physi-
back to the brain. cal buffer for fetal movements and physical
AFO See ankle-foot orthosis. development. It is formed by fetal urine pro-
AFP See alpha-fetoprotein. duction and lung fluid secretion during fetal
afterbirth See placenta. respirations.
agenesis of the corpus callosum Absence of amygdala A part of the brain involved in sen-
the band of white matter that normally con- sory procession and emotions.
nects the two hemispheres of the brain. anaphase The stage in cell division (mitosis
agonist A muscle that works in concert with and meiosis) when the chromosomes move
another muscle to produce movement. from the center of the nucleus toward the
agyria Absence of the normal convolutions poles of the cell.
on the surface of the brain. anaphylaxis A life-threatening hypersensitiv-
AIDS See acquired immunodeficiency syn- ity response to a medication or food, marked
drome. by breathing difficulty, hives, and shock.
alcohol-related neurodevelopmental disor- anemia Disorder in which the blood has
der (ARND) Previously called fetal alcohol either too few red blood cells or too little
effects (FAE); refers to the range of neurolog- hemoglobin.
ical and developmental impairments that can anencephaly Neural tube defect (NTD)
affect a child who has been exposed in utero in which either the entire brain or all but
to alcohol. The most severe of these effects is the most primitive regions of the brain are
fetal alcohol syndrome. missing.
alleles Alternate forms of a gene that may ankle-foot orthosis (AFO) The AFO stabi-
exist at the same site on the chromosome. lizes the position of the foot and provides a
alopecia The partial or complete absence of consistent stretch to the Achilles tendon.
hair from areas of the body where it normally anophthalmia Congenital absence of the eye
grows. globes.
alpha-fetoprotein (AFP) Fetal protein found anorexia A severe loss of appetite.
in amniotic fluid and serum of pregnant anotia Congenital absence of the external ear
women. Its measurement is used to test for (auricle).
meningomyelocele and Down syndrome in antagonists Muscles that work at cross-pur-
the fetus and is a chemical typically found in poses (e.g., the adductor and abductor mus-
the fetal spinal fluid, brain, and spinal cord. cles of the hip oppose each others’ actions).
alternative technology See adaptive tech- antecedents Events or contextual factors that
nology. precede the manifestation of a behavior.
alveoli Small air sacs in the lungs. Carbon anterior The front part of a structure.
dioxide and oxygen are exchanged through anterior chamber The space between the
their walls. cornea and lens of the eye.
amalgam An alloy of mercury and silver used anterior fontanelle The membrane-covered
in dental fillings. area on the top of the head; also called the “soft
amaurosis Blindness. spot.” It generally closes by 18 months of age.
Glossary 721
anterior horn cells Cells in the spinal col- apnea A lack of spontaneous breathing effort;
umn that transmit impulses from the pyrami- brief breathing arrests.
dal tract to the peripheral nervous system. apneic Pertaining to an episodic arrest of
anthropometrics Measurements of the body breathing.
and its parts. apoptosis Programmed cell death.
antibody A protein formed in the blood- applied behavior analysis (ABA) A treat-
stream to fight infection. ment method, commonly used in autism, that
anticholingeric medications A group of uses behavioral learning theory to change
medications that acts by antagonizing the behavior.
effects of the neurotransmitter acetylcholine. apraxia The inability to perform coordinated
anticipation A term used in genetics to movements or manipulate objects in the
denote an expansion in triplet repeats from absence of a motor or sensory impairment.
one generation to the next, leading to a more aqueous humor The watery fluid in the eye-
severe manifestation of the disease (e.g., in ball that fills the anterior chamber (the space
fragile X syndrome). between the lens and the cornea).
anticonvulsants Medications used for con- architectonic dysplasias Developmental
trol of seizures. malformations affecting the neuronal archi-
antidepressants Medications used to control tecture of the brain.
major depression. areflexia Lack of deep tendon reflexes.
antigen A substance that, when introduced ARND See alcohol-related neurodevelop-
into the body, triggers the production of an mental disorder.
antibody by the immune system, which will arterial blood gas A laboratory profile test of
then kill or neutralize the antigen that is rec- sampled arterial blood, including pH, PaO2,
ognized as a foreign and potentially harmful and PaCO2.
invader. arterial-venous malformation (AVM) Birth
antihistamine A drug that counteracts the defect of blood vessels, most commonly in the
effects of histamines, substances involved in brain, that can be associated with a disastrous
allergic reactions. postthrombotic hemorrhage.
antipsychotic medications Medications arthritis An inflammatory disease of joints.
used to treat psychosis; the atypical antipsy- articular Referring to the surface of a bone at
chotics have also been found to be useful in a joint space.
treating aggression and self-injury in children articulation 1) The formulation of individual
with severe intellectual disability. speech sounds; 2) the connection at a joint.
antipyretics Medications used to treat fever. ARVs See antiretroviral agents.
antiretroviral agents (ARVs) A category of ASDs See autism spectrum disorders.
medications used to treat retroviral infections asphyxia Interference with oxygenation of
(i.e., HIV/AIDS). the blood that leads to loss of consciousness
anuria In chronic renal (kidney) failure, the and possible brain damage.
absence of urine production. aspiration Inhalation of a foreign body, usu-
anxiety disorders Psychiatric disorders char- ally a food particle, into the lungs.
acterized by feelings of anxiety. The disor- aspiration pneumonia Inflammation of the
ders include panic attacks, separation anxiety, lung(s) caused by inhaling a foreign body,
obsessive-compulsive disorder (OCD), and such as food, into the lungs; an infection by
posttraumatic stress disorder (PTSD). the aspiration of food into the lung.
aorta The major artery, originating in the left asplenia Nonfunctioning spleen.
ventricle of the heart and supplying oxygen- assent Agreement to research or treatment,
ated blood to the body and brain. given by a child or minor who is too young to
Apgar scoring system Scoring system devel- give legally valid informed consent.
oped by Virginia Apgar to assess neurologi- assistive devices Any device used to assist in
cal status in the newborn infant. Scores range a body function (e.g., a wheelchair).
from 0 to 10. assistive technology Technology (often soft-
aphasia A class of language disorder that ware) to improve communication, movement,
ranges from having difficulty remembering independence, and so forth.
words to being completely unable to speak, astigmatism A condition of unequal cur-
read, or write due to damage to the brain. vature of the cornea that leads to blurred
apical At the tip of a structure. vision.
722 Gendron
astrocytes Support cells in the central ner- audiometry A hearing test using a device
vous system (CNS) that help form the white called an audiometer that yields results in
matter. the form of a graph showing hearing levels
asymmetrical tonic neck reflex (ATNR) A in sound intensity at various wavelengths of
primitive reflex, also called the fencer’s sound presented through earphones.
response, found in infants; usually is no longer auditory agnosia Inability to distinguish
evident by 3 months of age. When the neck is different sounds in the presence of normal
turned in one direction, the arm shoots out hearing.
on the same side and flexes on the opposite auditory brainstem response (ABR) A test
side; similar changes occur in the legs. of central nervous system (CNS) hearing
ataxia An unbalanced gait or movement of pathways.
any part of the body caused by a disturbance augmentative and alternative communica-
of cerebellar control. Movements are jerky tion (AAC) Devices that assist individuals
and uncoordinated, without the smooth flow who lack the ability to speak (e.g., a micro-
of normal motion. chip-powered voice output augmentative
ataxic Erratic and uncoordinated voluntary device for a person with dysarthria).
movement. augmentative devices Devices used to
ataxic cerebral palsy A form of dyskinetic increase an area of functioning that is defi-
cerebral palsy in which the prominent fea- cient, sometimes severely, but for which
ture is ataxia; characterized by abnormalities there are some residual abilities.
of voluntary movement involving balance aura A sensation, usually visual and/or olfac-
and position of the trunk and limbs in space tory, marking the onset of a seizure.
(ataxia). Ataxic cerebral palsy may be associ- auricle The outer ear.
ated with increased (spastic) or decreased autism spectrum disorders (ASDs) A group
(hypotonic) muscle tone. of related developmental disabilities includ-
athetoid cerebral palsy A form of dyskinetic ing autistic disorder (or autism), Asperger’s
cerebral palsy associated with athetosis. Disorder, and pervasive developmental disor-
athetosis Constant random, slow, writhing der-not otherwise specified.
involuntary movements of the limbs. autoimmune Pertaining to a reaction in
atlantoaxial instability (AAI) Excessive which one’s immune system attacks other
movement at the junction between the atlas parts of the body.
(C1) and axis (C2) bones in the upper spine automated external defibrillator (AED)
as a result of either a bony or ligamentous Portable electronic device that automatically
abnormality. This is a common finding in diagnoses the potentially life-threatening car-
Down syndrome. diac arrhythmias of ventricular fibrillation
atlantoaxial subluxation Partial dislocation and ventricular tachycardia in a patient and
of the upper spine, a particular risk in Down can provide an electrical impulse to correct
syndrome. the arrhythmia.
ATNR See asymmetrical tonic neck reflex. automatic movement reactions See postural
atonic Pertaining to the absence of normal reactions.
muscle tone. automatic reinforcement A behavior that
atopic dermatitis Eczema. produces internal consequences that can
atresia Congenital absence of a normal body reinforce and thus produce functional
opening; often occurs with microtia and relationships that maintain the problem
refers to the absence of the opening to the behavior.
external ear canal. automatisms Automatic fine motor move-
atria The two upper chambers of the heart. ments (e.g., unbuttoning one’s clothing) that
atrial septal defect A congenital heart defect are part of a seizure.
in which where there is lack of closure of the autonomic Describing the part of the ner-
wall separating the two upper chambers of vous system that regulates certain automatic
the heart. functions of the body (i.e., heart rate, sweat-
attention-deficit/hyperactivity disorder ing, and bowel movement).
(ADHD) A developmental disorder charac- autonomic nervous system Controls invol-
terized by impulsivity, hyperactivity, and inat- untary activities of the cardiovascular, diges-
tention to a degree that leads to impairment tive, endocrine, urinary, respiratory, and
in functioning. reproductive systems.
Glossary 723
autonomy The ability and/or right to be self- found also to be useful in treating tremor and
determining, an important concept in partici- migraine headache.
pating in human trials research. binocular vision The focusing of both eyes
autosomal dominant Mendelian inheritance on an object to provide a stereoscopic image.
pattern in which a single copy of a gene (from biotin One of the B-complex vitamins needed
either mother or father) leads to expression to activate a number of important enzymatic
of the trait. reactions in the body.
autosomal recessive Mendelian inheritance bipolar disorder A psychiatric disorder man-
pattern in which identical copies of a gene ifested by cycles of mania and depression; pre-
from both mother and father are required to viously called manic-depression.
result in the expression of a trait. blastocyst The embryonic group of cells that
autosomes The first 22 pairs of chromo- exists at the time of implantation.
somes. All chromosomes are autosomes blepharitis Inflammation of the eyelids.
except for the two sex chromosomes. blood PaO2 A measurement of the partial
avascular necrosis Destruction of bone from pressure of arterial oxygen (i.e., the amount
microvascular occlusion. of oxygen in the blood).
aversive Pertaining to a stimulus, often blood pH Blood acidity normally around
unpleasant, that decreases the likelihood a 7.40.
particular response will subsequently occur. blood poisoning See sepsis.
AVM See arterial-venous malformation. body mass index (BMI) A measurement of
axon A long, slender projection of a nerve cell, the relative percentages of fat and muscle
or neuron, that conducts electrical impulses mass in the human body, in which weight in
away from the neuron’s cell body. kilograms is divided by height in meters and
babinski sign Upgoing toe when the sole of the result used as an index of obesity.
the foot is stroked firmly. bolus 1) A small rounded mass of food made
backward chaining Method of teaching a ready by tongue and jaw movement for swal-
task in which the instructor begins by teach- lowing; 2) a single dose of a large amount of
ing the last step in a sequence because this medication given to rapidly attain a therapeu-
step is most likely to be associated with a tic drug level.
potent positive reinforcer. botulinum toxin (Botox) The neurotoxin that
bacteremia Spread of a bacterial organism produces botulism (food poisoning). Neuro-
throughout the bloodstream. toxin used in the treatment of neuromuscular
banding In genetics, pertaining to a series of disorders such as rigidity and spasticity.
dark and light bars that appear on chromo- botulism Poisoning by botulin toxin and
somes after they are stained. Each chromo- manifested as muscle weakness or paralysis.
some has a distinct banding pattern. BPD See bronchopulmonary dysplasia.
barotrauma Injury related to excess pressure, brachial plexus Network of nerve fibers,
especially to the lungs or ears. running from the spine through the neck, the
basal 1) Near the base; 2) relating to a stan- axilla (armpit region), and into the arm.
dard or reference point (e.g., basal metabolic brachialis A muscle in the upper arm.
rate). brachycephaly Tall head shape with flat back
basal ganglia Brain structure at the base of part of the skull.
the cerebral hemispheres involved in motor bradycardia Abnormal slowing of the heart
control, cognition, emotions, and learning. rate, usually to fewer than 60 beats per minute.
baseline In behavior management, the fre- braille A system of writing and printing for
quency, duration, and intensity of a behavior people who are blind or severely visually
prior to intervention. impaired.
behavior Refers to any action that one per- brainstem The primitive portion of the brain
son can perform and that another person can that lies between the cerebrum and the spinal
observe. cord.
beriberi Disease caused by a deficiency of branchial arches A series of arch-like thick-
the vitamin B1 (thiamin) and manifested as enings of the body wall in the pharyngeal
edema, heart problems, and peripheral neu- region of the embryo.
ropathy. bronchopulmonary dysplasia (BPD) A
beta-blockers Medications (e.g., proprano- chronic lung disorder that occurs in a minor-
lol) that were initially used to control high ity of premature infants who previously had
blood pressure and have subsequently been respiratory distress syndrome. It is associated
724 Gendron
with “stiff” lungs that do not permit adequate result in major malformations of the lower
exchange of oxygen and carbon dioxide, fre- vertebrae, pelvis, and spine.
quently leads to dependence on ventilator caudate nucleus Located within the basal
assistance for extended periods, and markedly ganglia, it is an important part of the brain’s
increases the risk for the child developing learning and memory system.
asthma in the future. CBF See cerebral blood flow.
bronchospasm Acute constriction of the cecostomy Surgical formation of a perma-
bronchial tube, most commonly associated nent artificial opening into the cecum, the
with asthma. end of the colon.
bruxism Repetitive grinding of the teeth. celiac disease Congenital malabsorption
bulging fontanel Bulging soft spot on the syndrome that leads to the inability to gain
crown of the head. weight and the passage of loose, foul-smell-
bulk Foodstuffs that increase the quantity ing stools. It is caused by intolerance of cereal
of intestinal contents and stimulate regular products that contain gluten (e.g., wheat).
bowel movements. Fruits, vegetables, and Affected individuals should avoid wheat and
other foods containing fiber provide bulk in other grains.
the diet. central hypoventilation Shallow breathing
caffeine A central nervous system (CNS) leading to low oxygen level resulting from
stimulant found in coffee, tea, and cola. disordered cerebral control of respiration.
calcify To become hardened through the lay- central nervous system (CNS) The portion
ing down of calcium salts. of the nervous system that consists of the brain
calculus An abnormal collection of mineral and spinal cord. It is primarily involved in vol-
salts on the tooth, predisposing it to decay; also untary movement and thought processes.
called tartar; when plaque becomes calcified. central venous line A catheter that is
callus A disorganized network of bone tissue advanced through a peripheral vein to a posi-
that forms around the edges of a fracture dur- tion directly above the opening to the right
ing the healing process. atrium of the heart. It is used to infuse long-
camptodactyly Deformity of fingers or toes term medication and/or nutrition.
in which they are permanently flexed. centrioles Tiny organelles that migrate to
cancellous Referring to the lattice-like struc- the opposite poles of a cell during cell divi-
ture in long bones (e.g., the femur). sion and align the spindles.
cardiomegaly Enlarged heart. centromere The constricted area of the
cardiopulmonary resuscitation (CPR) An chromosome that usually marks the point of
emergency procedure involving manual attachment of the sister chromatids to the
pumping of the chest combined with rescue spindle during cell division.
breathing which is performed in an effort to cephalocaudal From head to tail; refers to
preserve intact brain function until further neurological development that proceeds from
measures are taken to restore spontaneous the head downward.
blood circulation and breathing in a person cephalohematoma A swelling of the head
in cardiac arrest. resulting from bleeding of scalp veins. Often
cardiorespiratory arrest Slowing or stop- found in newborn infants, it is usually not
ping of breathing and/or heart rate. harmful.
cardiorespiratory monitor A device used to cerebellum A cauliflower-shaped brain struc-
monitor heart and respiratory rate. ture located just above the brainstem beneath
case control study An observational epi- the occipital lobes at the base of the skull that
demiologic study of people with a specific is principally involved in muscle tone and
disease (or other outcome) of interest and a coordination of movement.
suitable control (e.g., comparison, reference) cerebral blood flow (CBF) Poorly autoreg-
group of people without the disease. ulated blood flow within the early developing
catalyze To stimulate a chemical reaction via brain, making the newborn particularly vul-
a compound that is not used up. nerable to any changes in blood pressure.
cataracts Clouding of the lenses of the eyes. cerebellar cognitive affective syndrome A
catheterization Use of a tube to infuse or syndrome associated with cerebellar injury
remove fluids. that includes impairment of executive func-
caudal Posterior pole of the developing embryo. tions such as planning, set-shifting, verbal flu-
caudal regression syndrome Defects that ency, abstract reasoning and working memory;
may occur during embryonic life that can difficulties with spatial congnition including
Glossary 725
visual-spatial organization and memory; per- CI See cochlear implant.

sonality change with blunting of affect or dis- circle of support A group of volunteer advo-
inhibited and inappropriate bahavior. cates, such as family members, friends, and
cerebral contusion A bruise on the cerebrum. neighbors, who make sure that an individual
cerebral hemisphere Either of the two with a developmental disability has a support
halves of brain substance. system that meets all of his or her needs.
cerebral palsy A disorder of movement and choanal atresia Congenital closure of
posture due to a nonprogressive defect of the the nasal passage; part of the CHARGE
immature brain. association.
cerebral vascular accident (CVA) A throm- cholelithiasis Gall stones.
botic (clot) or hemorrhagic (bleed) stroke that cholesteatoma A complication of otitis
can damage large regions of the brain in the media in which skin cells from the ear canal
location of a particular blood vessel (artery or migrate through the perforated eardrum into
vein). the middle ear, or mastoid region, forming a
cerebrospinal fluid (CSF) Clear, watery mass that must be removed surgically.
fluid that fills the ventricular cavities within chorea A disorder marked by involuntary
the brain and circulates around the brain and jerky movements of the extremities.
spinal cord. choreoathetosis Movement disorder, char-
cerumen Ear wax. acteristic of dyskinetic cerebral palsy, involv-
cervical Pertaining 1) to the cervix, or 2) to ing frequent involuntary spasms of the limbs;
the neck. when chorea and athetosis are seen together.
cesarean section (C-section) A surgical chorioamnionitis An infection of the amni-
operation for delivering a baby through incis- otic sac that surrounds and contains the fetus
ing the uterus. and amniotic fluid.
CHARGE syndrome A syndrome defined chorion The outermost covering of the
by Coloboma of the eye, Heart defects, Atre- membrane surrounding the fetus.
sia of the choanae, Retardation of growth chorionic villi Tiny projections that sprout
and/or development, Genital and/or urinary from the chorion to give a maximum area of
abnormalities, and Ear abnormalities and contact with the maternal blood. Embryonic
deafness. These children may have significant blood is carried to the villi by the branches
vision and hearing impairments. of the umbilical arteries, and after circulating
cheilitis An inflammation of the lips. through the capillaries of the villi, is returned
chelation therapy The use of an oral, intra- to the embryo by the umbilical veins. The
venous, or topical medication to remove villi are part of the border between maternal
metal from the body, most commonly used in and fetal blood during pregnancy.
lead poisoning. chorionic villus sampling (CVS) A prenatal
chemotaxis The phenomenon in which cells diagnostic procedure done in the first trimes-
direct their movements according to certain ter of pregnancy to obtain fetal cells for genetic
chemicals in their environment. This is criti- analysis; minute biopsy of the chorion.
cal to early development (e.g., movement of chorioretinitis An inflammation of the retina
sperm towards the egg during fertilization) and choroid that produces severe visual loss.
and subsequent phases of development (e.g., choroid The middle layer of the eyeball
migration of neurons or lymphocytes) as well between the sclera and the retina.
as in normal function. choroid plexus Cells that line the walls of the
chemotherapy Drugs used to treat cancer. ventricles of the brain and produce cerebro-
chest physiotherapy (CPT) A general term spinal fluid.
referring to treatments generally performed chromatids Term given to chromosomes
by respiratory therapists to improve breath- during cell division.
ing by the indirect removal of mucus from the chromosomes Threadlike strands of DNA
breathing passages. and associated proteins in the nucleus of cells
Chiari type II malformation An abnormal- that carry the genes transmitting hereditary
ity, wherein the brain stem and part of the information.
cerebellum are displaced downward toward ciliary body Located behind the iris, this
the neck, rather than remaining within the structure allows drainage out of the eye in the
skull. angle where the cornea meets the iris through
cholelethiasis Gall stones. a spongelike meshwork to Schlemm’s canal.
726 Gendron
ciliary muscles Small muscles that affect competitive employment Individuals with
the shape of the lens of the eye, permitting disabilities must have the same skills req-
accommodation. uisite for any employee to succeed in the
CK See creatine kinase. workplace: knowledge base for the job,
cleft Term used in reference to a congenital appropriate social skills, effective commu-
deformity of the lip or palette. nication skills, and motivation. Individuals
clonus Alternate muscle contraction and with disabilities also must have appropriate
relaxation in rapid succession. independent living skills and the skills and
clubfoot A congenital foot deformity; also abilities to manage their disability-related
called talipes equinovarus. needs, such as hiring and managing per-
CMV See cytomegalovirus. sonal care attendants and transportation
CNS See central nervous system. services.
coagulation Blood clotting. complete learning trials Refers to an oppor-
coarctation A congenital narrowing, such tunity to respond that is controlled by the
as of a blood vessel, most commonly of the trainer.
aorta. compliance training An important prerequi-
cochlea The snail-shaped structure in the site to instructional training. The instructor
inner ear containing the hearing organ. orients the child to attend to the instructor
cochlear implant (CI) A device surgically and then issues a developmentally appropri-
implanted in the cochlea of the ear that per- ate “do” request.
mits a form of hearing in individuals with computed tomography (CT) An imag-
deafness. ing technique in which x-ray “slices” of a
codons Triplets of nucleotides that form the structure are viewed and synthesized by a
DNA code for specific amino acids. computer, forming an image. CT scans are
cognitive strategy instruction (CSI) CSI less clear than magnetic resonance imaging
teaches metacognitive strategies (thinking (MRI) scans but are better at localizing cer-
about thinking) to improve learning and pertain tumors and areas of calcification.
formance. It is beneficial when teaching more concave Having a curved, indented surface.
complex material involving problem solving concussion A clinical syndrome caused by a
and decision making. blow to the head, characterized by transient
cognitive-behavioral therapy (CBT) A type loss of consciousness.
of psychotherapy that focuses on feelings conductive In reference to hearing the con-
about behavior. duction and amplification of sound through
cohort study An epidemiologic study of sub- the middle ear.
groups of a population identified with some cones Photoreceptor cells of the eye associ-
common characteristic (e.g., an exposure, ated with color vision.
an ethnic background) that are followed or congenital Originating prior to birth.
traced over a period of time for the occur- congenital myopathies A group of inherited
rence of disease. muscle disorders often associated with mito-
colic A condition in infancy marked by chondrial dysfunction.
uncontrollable crying usually caused by conjunctiva The mucous membrane that
abdominal discomfort and often the result of lines the inner surface of the eyelid and the
gastroesophageal reflux (GER). exposed surface of the eyeball.
coloboma Congenital cleft in the retina, iris, consanguinity Familial relationship, such as
or other ocular structure. the marriage of first cousins.
comorbid A coexisting condition that wors- conscience A personal sense, generally
ens an underlying disorder. intuitive and urgent, of the way one should
competent Legally recognized to be able to respond under specific circumstances.
make decisions for oneself. Minors are pre- consequences Events or contextual factors
sumed to be incompetent, except under cer- that occur subsequent to a behavior and may
tain specified conditions that may vary from or may not be causally related to it.
state to state. conservatorship A circumstance in which
competing stimuli Stimuli that displace the the court declares an individual unable to take
problem behavior, such as providing food or care of legal matters and appoints another
mouthing toys to children that display pica individual (a conservator) to handle these
(eating of nonfood items). matters on the individual’s behalf.
Glossary 727
contiguous gene syndrome A genetic syn- cortisol A steroid.

drome resulting from defects in a number of CPR See cardiopulmonary resuscitation.
adjacent genes. CPT See chest physiotherapy.
contingent stimulation Applying punishment cranial sutures Fibrous material connecting
following the occurrence of a misbehavior. skull bones.
contingent withdrawal The removal of craniofacial Relating to the skull and bones
access to positive reinforcement following a of the face.
misbehavior. craniosynostosis Premature closure of cra-
continuous positive airway pressure (CPAP) nial bones.
Involves providing a mixture of oxygen and creatinine Product produced by muscle tis-
air under continuous pressure; this prevents sue and normally filtered from the blood by
the alveoli from collapsing between breaths. the kidney.
continuum A spectrum. creatine kinase (CK) An enzyme released by
contracture A shortening of muscle fibers damaged muscle cells. Its level is elevated in
and soft tissue around a joint that causes muscular dystrophy.
decreased mobility and is almost always irre- crib death See sudden infant death syndrome
versible. (SIDS).
contralateral Opposite side. Crohn’s disease An inflammatory bowel dis-
contusion (of brain) Structural damage lim- order.
ited to the surface layer of the brain caused crossover The exchange of genetic material
by trauma. between two closely aligned chromosomes
convex Having a curved, elevated/protruding during the first meiotic division.
surface, such as a dome. cryotherapy The use of freezing tempera-
cooperative learning An instructional method tures to destroy tissue.
that includes a range of team-based learning cryptorchidism Undescended testicles.
strategies. C-section See cesarean section.
copy number variability (CNV) When the CSF See cerebrospinal fluid.
number of copies of a particular gene varies CT See computed tomography.
from one individual to the next. customized employment A blend of services
cordocentesis See percutaneous umbilical designed to increase employment options for
blood sampling (PUBS). individuals with significant disabilities such as
cornea The clear dome that covers and pro- self-employment, entrepreneurship, job carv-
tects the iris of the eye. ing and restructuring, personal agents, and
corpus callosotomy Surgical procedure in customized training.
which the corpus callosum is cut to prevent CVA See cerebral vascular accident.
the generalized spread of seizures from one CVS See chorionic villus sampling.
hemisphere to another. cystic fibrosis An autosomal recessively inher-
corpus callosum The bridge of white mat- ited disorder of the secretory glands leading to
ter connecting the two cerebral hemispheres malabsorption and lung disease.
and permitting the exchange of information cystometrogram (urodynamics) A proce-
between the two hemispheres. dure in which fluid is injected into the bladder
cortex The surface of the cerebral hemi- and pressure is measured.
sphere, composed principally of neurons and cytomegalovirus (CMV) A virus that may
glia. be asymptomatic or cause symptoms in adults
cortical Pertaining to the cortex or gray mat- that may resemble mononucleosis. In the
ter of the brain. fetus, it can lead to severe malformations sim-
cortical visual impairemt Visual impairment ilar to congenital rubella.
caused by damage to the part of the brain cytoplasm The contents of the cell outside
related to vision. Although the eye is normal, the nucleus.
the brain cannot properly process the infor- cytosine One of the four nucleotides (chemi-
mation it receives. The degree of vision loss cals) that comprise DNA.
may be mild or severe and can vary greatly, DAI See diffuse axonal injury.
even from day to day. dB See decibel.
corticospinal pathways White matter path- DDH See developmental dislocation of the hip.
ways leading from the brain through the spi- debridement The removal of dead tissue
nal corticospinal tract; see pyramidal tract. (e.g., after a burn or an infection).
728 Gendron
decibel (dB) A measure of loudness used in dermal sinus A cavity lining extending from
hearing testing. the skin surface to a deeper structure, most
decubitus ulcers Bed sores. notably the spinal cord.
delay Refers simply to a slower than expected descriptive analysis Involves the quantita-
rate in the acquisition of skills, usually defined tive, direct observation of the individual’s
with reference to widely accepted developmen- behaviors as well as antecedent events and
tal milestones. consequences under naturalistic conditions.
deletion Loss of genetic material from a descriptive and functional analysis Observa-
chromosome. tion period in behavior management that pre-
delirium An organically based psychosis cedes treatment.
characterized by impaired attention, disorga- detoxification The conversion of a toxic
nized thinking, altered and fluctuating levels compound to a nontoxic product.
of consciousness, and memory impairment. developmental cerebeller cognitive affec-
It may be caused by encephalitis, diabetes, or tive syndrome A syndrome described in
intoxication and is usually reversed by treat- children who survive prematurity-related
ing the underlying medical problem. cerebellar injury and have deficits range from
delusions False beliefs, often quite bizarre, impaired executive function to serve behav-
that are symptoms of psychosis or drug ioral disturbances that fall into the autism
intoxication. spectrum.
dementia A progressive neurological disor- developmental delay Refers to a significant
der marked by the loss of memory, decreased lag in the attainment of milestones in one or
speech, impairment in abstract thinking and more areas of development.
judgment, other disturbances of higher cor- developmental deviance Refers to non-
tical function, and personality change (e.g., sequential unevenness in the achievement
Alzheimer’s disease). of milestones within one or more streams of
dental caries Tooth decay. development.
dental lamina A thickened band of tissue developmental disabilities A group of
along the future dental arches in the human chronic conditions that are attributable to an
embryo. impairment in physical, cognitive, speech/
dental organ The embryonic tissue that is the language, psychological, or self-care areas
precursor of the tooth; also called tooth bud. and that are manifested during the develop-
dental plaque Patches of bacteria, bacterial mental period (younger than 21 years of age).
byproducts, and food particles on teeth that developmental dislocation of the hip
predispose them to decay. (DDH) A congenital hip dislocation, usu-
dental sealant Plastic substance adminis- ally evident at birth, occurring more com-
tered to teeth, most commonly the molars, to monly in girls.
increase their resistance to decay; consists of a developmental dissociation Refers to a sig-
plastic coating that is bonded to the chewing nificant difference in developmental rates
surface of molars to prevent decay. between two areas.
dentin The principal substance of the tooth developmental regression Loss of previ-
surrounding the tooth pulp and covered by ously attained milestones.
the enamel. deviate See diverge.
deoxyribonucleic acid (DNA) The funda- dextrose A simple sugar similar to glucose
mental component of living tissue. It contains and used to medically correct or prevent low
an organism’s genetic code. blood sugar.
depolarization The eliminating of the elec- diagnostic test A test used to definitively
trical charge of a cell. confirm or exclude the presence of a disease
depolarizing current An electrical current or condition in a particular individual.
causing a change in cell membrane voltage. dialysis A detoxification procedure of the
depressed fracture Fracture of bone, usually blood (i.e., hemodialysis) or across the peri-
the skull, that results in an inward displace- toneum (i.e., peritoneal dialysis) used to treat
ment of the bone at the point of impact. It kidney failure.
requires surgical intervention to prevent diaphysis The shaft of a long bone lying
damage to underlying tissue. under the epiphysis.
deprivation In behavior management, denial diastematomyelia A congenital defect in
of access to a reinforcing item or event. which the spinal cord is divided into halves
Glossary 729
by a bony or cartilaginous divider, often seen areas progress is fairly typical, whereas in
in spina bifida. other areas the child demonstrates a signifi-
diencephalon A part of the forebrain. cant departure (delay or deviation) from the
differential reinforcement A behavior man- expected course.
agement technique in which a preferred alter- distal Involving muscles or body segments
nate behavior is positively reinforced while a farther from the center of the body.
less preferred behavior is ignored. distension Constipation.
differential reinforcement of alternative diuretics Medications used to reduce inter-
behaviors (DRA) When the delivery of the cellular fluid buildup in the body (edema),
reinforcer is contingent on the performance especially in the lungs.
of alternative, more appropriate behaviors. diverge A child demonstrates functional or
differential reinforcement of other behav- behavioral characteristics that are not typical
iors (DRO) Consists of the delivery of for any child at any age.
reinforcers (e.g., attention) contingent on the diving reflex Named for its presence in div-
absence of problem behaviors. ing seals, this also occurs in infants during
diffuse axonal injury (DAI) Diffuse injury to hypoxic ischemic encepolopathy (HIE) and
nerve cell components, usually resulting from results in the redistribution of blood away
shearing forces. This type of traumatic brain from “nonvital organs” (e.g., kidneys, liver,
injury is commonly associated with motor lungs, intestines, and skeletal muscles) to pre-
vehicle accidents. serve the perfusion of the “vital organs” (i.e.,
diffusion-weighted imaging (DWI) A new heart, brain, and adrenal glands). This reflex,
form of magnetic resonance imaging (MRI) if prolonged, may result in insufficient blood
scanning that can identify with great sensitiv- supply and damage to the nonvital organs.
ity areas of brain, especially white matter, that DMD See Duchenne muscular dystrophy.
have suffered an acute injury. DNA See deoxyribonucleic acid.
diopters Units of refractive power of a lens. DNR See do not resuscitate.
diplegia A form of spastic cerebral palsy, do not resuscitate (DNR) Medical orders
most often found in former premature babies, that state that, should a patient develop a car-
in which the legs are predominantly affected. diopulmonary arrest, no attempts at resusci-
diploid Having paired chromosomes in nondi- tation would be undertaken; also called “No
viding cells (i.e., 46 chromosomes in 23 pairs). Code” orders.
diplopia Double vision. dominant In genetics, referring to a trait
direct instruction (DI) A codified approach that only requires one copy of a gene to be
to teacher-led instruction that provides expressed phenotypically. For example, hav-
explicit instruction with teacher modeling, ing brown eyes is a dominant trait, so a child
extensive practice through choral response, receiving a gene for brown eyes from his or
brisk pacing, and immediate corrective feed- her mother or father (or from both parents)
back. The DI technique is very successful will have brown eyes.
for teaching fundamental reading skills, and dopamine A neurotransmitter involved in
building reading fluency and reading com- attention deficits (e.g., attention-deficit/
prehension. hyperactivity disorder [ADHD]) and motor
disability Refers to a decrement in the abil- function (e.g., Parkinson’s disease).
ity to perform some action, engage in some dorsal Back.
activity, or participate in some real-life situa- dorsal induction Describes the processes of
tion or setting. primary and secondary neurulation during
discrepancy model In education this is often embryogenesis.
called the “wait to fail” model. As the child dorsiflexion Upward movement of the foot.
ages, they will fall far enough behind to have dorsolateral Involving both the back and side
a significant difference between their ability of a body part.
(IQ) and their achievement. double effect Principle of a moral argument
dislocation The displacement of a bone out used to defend certain actions that can be
of a joint space. anticipated to have both good and bad out-
disorders of carbohydrate metabolism comes.
Inborn errors of metabolism involving enzyme double helix The coiled structure of DNA; a
deficiencies in the breakdown of sugars. structure that resembles a twisted ladder.
dissociation A child may demonstrate an dual diagnosis Intellectual disability and psy-
uneven pattern of skills, such that in some chiatric disorder.
730 Gendron
dual discrepancy model The student both central and peripheral nervous systems and
performs below the level evidenced by class- muscles.
room peers as well as shows a learning rate dysthymia A mild form of depression charac-
substantially below that of classroom peers. terized by a mood disturbance that is present
Duchenne muscular dystrophy (DMD) See most of the time and is associated with feel-
Appendix B. ings of low self-esteem, hopelessness, poor
ductus arteriosus An arterial connection concentration, low energy, and changes in
open during fetal life that diverts the blood sleep and appetite; seen most commonly in
flow from the pulmonary artery into the adolescents.
aorta, thereby bypassing the not-yet-func- dystocia Structural abnormalities of the uterus
tional lungs. that cause a difficult labor or childbirth.
ductus venosus Open during fetal life, it is a dystonia A disorder of the basal ganglia asso-
shunt that allows oxygenated blood from the ciated with altered muscle tone leading to
placenta to bypass the liver and return to the contorted body positioning.
systemic circulation for distribution to the dystonic cerebral palsy A form of dyskinetic
rest of the body. cerebral palsy, the most prominent feature of
duodenal atresia Congenital absence of a which is dystonia.
portion of the first section of the small intes- E. coli See Escherichia coli.
tine; often seen in individuals with Down Eagle Barrett syndrome Formerly “prune
syndrome. belly syndrome.”
duodenum The first part of the small intes- ECG See electrocardiogram.
tine; the upper part of the small intestine. echocardiography An ultrasonic method of
DWI See diffusion-weighted imaging. imaging the heart. It can be used to detect
dynamic In the context of orthotics, capable congenital heart defects even prior to birth
of active movement. echolalic Pertaining to immediate or delayed
dysarthria Difficulty with speech due to repetition of a word or phrase said by others;
impairment of oral motor structures or mus- often evident in children with autism spec-
culature. trum disorders.
dyscalculia Learning disability affecting skills ECMO See extracorporeal membrane oxy-
in mathematics. genation.
dyscontrol syndrome Intermittent explosive ecological systems model Can be used to
disorder out of proportion to the event that understand the interactive nature of family
provokes it. existence within microsystem, mesosystem, exo-
dysgraphia Learning disability in areas of system, and macrosystem.
processing and reporting information in writ- ectoderm Outer cell layer in the embryo.
ten form. ectodermal dysplasia Abnormal skin devel-
dyskinesia An impairment in the ability to opment.
control movements characterized by spas- ectopias Congenital displacement of a body
modic or repetitive motions organ or tissue.
dyskinetic cerebral palsy Type of “extrapy- ectopic pregnancy Embryo implanted out-
ramidal” cerebral palsy often involving abnor- side of the uterus.
malities of the basal ganglia and manifesting ectrodactyly Congenital absence of all or
as rigidity, dystonia, or choreoathetosis. parts of digits.
dyslexia Learning disability affecting reading eczema A common skin condition, often
skills, which commonly causes the reader to occurring in childhood, marked by an itchy
see a word’s letters in reverse order. inflammatory reaction manifested by tiny
dysmorphic Unusual facial appearance as a blisters with reddening, swelling, bumps, and
result of a genetic disorder. crusting; also called atopic dermatitis.
dysmotility Abnormal motility of the gut. EDC See estimated date of confinement.
dysostosis An abnormal bony formation. EDD Estimated due date; also called estimated
dysphagia Difficulty in swallowing. date of confinement.
dysphasia Impairment of speech consisting of a edema An abnormal accumulation of fluid in
lack of coordination and failure to arrange words the tissues of the body.
in proper order due to a central brain lesion. EEG See electroencephalogram.
dysplasia Abnormal tissue development. efferent Pertaining to the impulses that go
dyspraxia Inability to perform coordinated to a nerve or muscle from the central ner-
movements despite normal function of the vous system (CNS); for example motor fibers
Glossary 731
transmit impulses from the brain to initiate individuals with disabilities at one site with
movement. a common job coach engaged around a work
effusion A middle-ear infection associated task.
with fluid accumulation. endocardial cushion defect A congenital
Ehlers Danlos syndrome See Appendix B. heart defect, found often in Down syndrome,
EKG See electrocardiogram. where there is a lack of closure of the wall
ELBW See extremely low birth weight. separating the two sides of the heart.
electrocardiogram (EKG, ECG) The graphic endocarditis Inflammation of the inner lin-
record of an electronic recording of heart rate ing of the heart.
and rhythm. endochondral ossification Formation of
electroencephalogram (EEG) A recording bone from cartilage.
of the electrical activity in the brain that is endoderm The inner cell layer in the embryo.
often used in the evaluation of seizures. enriched environments A type of treatment
electrolytes Minerals contained in the blood, that focuses on providing stimuli that com-
such as sodium, potassium, chloride. pete with problem behaviors.
electromyography (EMG) A technique enteral nutrition Feeding directly into the
for measuring muscle activity and function; stomach through the nose or mouth to ensure
recording of electric currents associated with that nutritional requirements are met.
muscle contractions are useful in the diagno- enteric nervous system The subdivision of
sis of a variety of neuromuscular disorders, the autonomic nervous system that controls
including anterior horn cell disease, neuropa- the gastrointestinal system.
thies, neuromuscular junction disorders, and enterobacter A rod-shaped bacteria that can
some myopathies. cause gastrointestinal symptoms.
electroretinogram (ERG) A graphic record enuresis Incontinence.
of the electrical activity of the retina. ependomomas Tumors developing from
elixir Hydroalcoholic liquid intended for oral cells that line both the hollow cavities-ventri-
use. cles of the brain and the canal containing the
eloquent cortex The area of the cortex spinal cord.
involved in the production of speech. ephiphysis Growth area in long bones.
emancipated minor A teenage minor who epicanthal folds Crescent-shaped fold of
is legally free of parental control for giving skin on either side of the nose, commonly
informed consent to any medical treatment. associated with Down syndrome.
embryo The earliest stage of conceptional epidemiology The study of the distribution
development after fertilization and during the and determinants of disease frequency in spe-
first 8 weeks of pregnancy. The placenta and cific populations.
most of the primitive organs are formed into epidural anesthesia Pain relief by infusing
the major systems during this time. an anesthetic agent into the epidural space of
embryotic period The first 8 weeks of preg- the spine.
nancy. epidural hematoma Localized collection of
EMG See electromyography. clotted blood lying between the skull and the
enamel The calcified outer layer of the tooth. outer (dural) membrane of the brain, result-
encephalitis Inflammation of the brain, gen- ing from the hemorrhage of a blood vessel
erally from a viral infection. resting in the dura. This most often results
encephalocele A malformation of the skull from traumatic head injury.
that allows a portion of the brain, which is epigenetics Changes in gene expression that
usually malformed, to protrude; a neural tube do not permanently alter the DNA sequence.
defect characterized by a sac-like protrusion epiglottis A lid-like structure that hangs over
of the brain and the membranes that cover it the entrance to the windpipe and prevents
through an opening in the skull. This defect aspiration of food or liquid into the lungs
is caused by failure of the neural tube to close during swallowing.
completely during fetal development. epilepsy A disorder of the brain character-
encephalopathy Disorder or disease of the ized by repeated seizures and by the neuro-
brain. biologic, cognitive, psychological, and social
enclaves Once considered a viable employ- consequences of this condition.
ment option for individuals with severe epiphyses The end plates of long bones
disabilities; it brings together groups of where linear growth occurs.
732 Gendron
epithelial Pertaining to cells that are found extinction The process through which rein-
on exposed surfaces of the body, (e.g., skin, forcement is withheld for a previously rein-
mucous membranes, intestinal walls). forced response, resulting in a decrease in
equinus Involuntary extension (plantar flex- the future occurrence of that response; see
ion) of the foot (like a horse); this position is planned ignoring.
often found in spastic cerebral palsy. It leads extinction burst A transient increase in the
to toe walking. frequency and intensity of a challenging behav-
ERG See electroretinogram. ior before a subsequent reduction occurs.
erythrocytosis An abnormal increase in the extracorporeal membrane oxygenation
number of circulating red blood cells. (ECMO) An extreme and invasive life sup-
erythropoietin A protein that regulates red port technique that involves putting a patient
blood cell production. onto a heart–lung bypass machine.
Escherichia coli (E. coli) Bacteria that can extract In the context of medication, a con-
cause infections ranging from diarrhea to uri- centrated preparation.
nary tract infection to sepsis. extrapyramidal cerebral palsy See dyski-
esophageal atresia A congenital defect in netic cerebral palsy.
which there is a stricture in the esophagus, extrapyramidal system Areas of the brain
preventing food from entering the stomach. involved in subconscious, automatic aspects
esophagus Tube through which food passes of motor coordination.
from the pharynx to the stomach. extremely low birth weight (ELBW) Term
esotropia A form of strabismus in which one often used to describe an infant with a birth
or both eyes turn in; “cross-eyed.” weight less than 1,000 grams (2¼ pounds).
estimated date of confinement (EDC) fading Behavioral instruction process by
Expected date of delivery; also called estimated which prompts are withdrawn gradually.
due date (EDD). FAE See fetal alcohol effects.
estrogen Female sex hormone. failure to thrive (FTT) Inadequate growth
etiology Refers to the cause of a medical con- of both weight and height in infancy or early
dition. childhood caused by malnutrition, chronic
eustachian tube Connection between oral disease, or a congenital anomaly.
cavity and middle ear, allowing equilibration family-centered care An approach to health
of pressure and drainage of fluid. care that is based on mutual respect which
everted Turned outward. promotes optimal health outcomes and treat-
evidence-based research instruction ment adherence by encouraging shared deci-
Defined as “research that involves the applica- sion making in daily patient interactions.
tion of rigorous, systematic, and objective pro- fatty acid oxidation disorders Inborn errors
cedures to obtain reliable and valid knowledge of metabolism involving enzyme deficiencies
relevant to education activities and programs” in the breakdown of fatty acids.
(U.S. Department of Education, 2007). febrile Having an elevated body temperature.
excitotoxic Pertaining to excitotoxins, neu- A child is considered febrile when registering
rochemicals that can cause neuronal cell a fever above 100.4 degrees Fahrenheit (38
death and have been implicated in hypoxic degrees Celsius).
brain damage and acquired immunodefi- FEES Flexible endoscopic evaluation of swal-
ciency syndrome (AIDS) encephalopathy. lowing.
executive function The cognitive tasks Feingold diet This diet involves removing
related to taking in, organizing, processing synthetic colors, flavors, artificial preserva-
and acting on information. Deficits are pres- tives, salicylates, and sweeteners from the
ent in people with autism spectrum disorders diet.
(ASDs), learning differences, and attention- femur Long bone in the thigh connecting the
deficit/hyperactivity disorder (ADHD). hip to the knee.
exotropia A form of strabismus in which one fencer’s response See asymmetrical tonic
or both eyes turn out; “wall-eyed.” neck reflex (ATNR).
expressive language Communication by fertilization The entrance of a sperm into
spoken language, gesture, signing, or body the egg resulting in a conception.
language. FES See functional electrical stimulators.
extension Movement of a limb at a joint fetal alcohol effects (FAE) Former term for
to bring the joint into a more straightened alcohol-related neurodevelopmental disorder
position. (ARND; see Chapter 3).
Glossary 733
fetal heart rate (FHR) Normally 120–140 free level In pharmacotherapy, the amount of
beats per minute and routinely monitored active drug that is able to produce an effect on
by ultrasound throughout labor to indicate the body.
fetal well-being versus fetal distress (i.e., free radicals Chemical compounds, the
FHR < 100). abnormal accumulation of which has been
fetal heart rate monitoring Monitoring linked to cancer and neurotoxicity.
fetal heart rate with ultrasound. frequency Cycles per second, or hertz (Hz), a
fetus Refers to the stages of development measure of sound.
during pregnancy after the first eight weeks. frontal lobe Controls both voluntary motor
FHR See fetal heart rate. activity and important aspects of cognition
fibroma A benign fibrous tumor of connec- (Brodal, 2010).
tive tissue. FTT See failure to thrive.
FISH See fluorescent in situ hybridization. functional (experimental) analysis See applied
fissures On the brain, these are deeper than behavioral analysis.
sulci, are first visible during fetal develop- functional electrical stimulators (FES) Pro-
ment, and separate each hemisphere into four vide neural stimulation to increase mobility.
functional areas or lobes. functional magnetic resonance imaging
flexion Movement of a limb to bend at a joint. (fMRI) A neuroimaging procedure that
flexor A muscle with the primary function of permits evaluation of the effects of activities,
flexion or bending at a joint. such as reading, on brain function.
flexor and extensor spasms Spasms of bend- fundoplication An operation in which the
ing of a limb toward or away from the body. top of the stomach is wrapped around the
flora In medicine, bacteria normally residing opening of the esophagus to correct gastro-
within a body organ and not causing disease, esophageal reflux (GER).
such as E. coli in the intestine. FXS Fragile X syndrome (see Chapter 1).
fluency Aspect of speech, that is, producing G tube See gastrostomy tube.
speech in a fluid manner. GABA See gamma-aminobutyric acid.
fluorescent in situ hybridization (FISH) galactosemia An inborn error of metabolism
Technology used to diagnose a number of involving an enzyme deficiency that prevents
microdeletion syndromes. the breakdown of the sugar galactose, a com-
fMRI See functional magnetic resonance ponent of many foods.
imaging. gamma-aminobutyric acid (GABA) An
focal Localized. amino acid that acts as an inhibitory neu-
focal neurological changes Findings on neurotransmitter.
rological exams that are abnormal and indica- ganglia Masses of nerve cell bodies.
tive of a lesion in a particular part of the brain; gastrocolic reflex A trigger that results in an
also called focal neurological impairments. urge to defecate; it generally occurs 30–60
folic acid A vitamin, a deficiency of which minutes after a meal.
during early pregnancy has been linked to gastroenteritis An acute illness marked by
neural tube defects. vomiting and diarrhea usually associated with
foramen ovale A tiny window between the a viral infection (e.g., rotavirus in infants) that
right atrium and the left atrium. generally lasts a few days; also called stomach
forebrain The front portion of the brain dur- flu.
ing fetal development; also called the prosen- gastroesophageal duodenoscopy Endos-
cephalon. copy in which a flexible instrument with a
forward chaining A behavior management light source examines the esophagous, stom-
technique in which the first skill in a sequence ach, and small bowel.
is taught first and the last skill is taught last. gastroesophageal reflux disease (GER/
fovea centralis The small pit in the center of GERD) The backward flow of food into
the macula; the area of clearest vision, con- the esophagus after it has entered the stom-
taining only cones. ach; acid reflux.
frame shift A type of gene mutation in which gastrointestinal (GI) tract The stomach and
the insertion or deletion of a single nucleo- small intestine.
tide leads to the misreading of all subsequent gastrojejunal (G-J) tube A feeding tube that
codons as the three base pair reading frame is inserted through a gastrostomy site and
is shifted. threaded through the stomach and duodenum
734 Gendron
into the jejunum (the second part of the small glutaminergic neurons Brain cells that
intestine). release the chemical glutamate, an exactatory
gastrojejunostomy (G-J) Surgical proce- neurotransmitter.
dure to prepare for gastrojejunostomy (G-J) gluten-/casein-free diet Involves removing
tube. all wheat and milk products from the child’s
gastroschisis Congenital malformation of diet.
the abdominal wall resulting in the protru- glycine An amino acid that can serve as an
sion of abdominal contents. excitotoxin, causing seizures.
gastrostomy An operation in which an arti- glycogen The chief carbohydrate stored in
ficial opening is made into the stomach the body, primarily in the liver and muscles.
through the wall of the abdomen. This is usu- GMPCS See gross motor function classifica-
ally done in order to place a feeding tube into tion system.
the stomach. goiter Enlargement of the thyroid gland.
gastrostomy tube (G tube) A permanent Golgi apparatus The intracellular organelle
tube placed directly through the skin and into that packages proteins in a form that can be
the stomach. released through the cell membrane and car-
GBS See group B Streptococcus. ried throughout the body.
GDD See global developmental delay. goniometry Use of a hinged measuring tool
gene A molecular unit of heredity consisting to determine joint range of motion.
of stretches of DNA and RNA that code for a graduated guidance A behavior manage-
type of protein or for an RNA chain that has ment technique in which only the level of
a function in the organism. assistance (guidance) necessary for the child
genome The complete set of hereditary units to complete the task is provided.
(genes) in an organism. graft versus host disease A mechanism of
genomic imprinting A condition manifested the body’s immune system that destroys for-
differently depending on whether the trait is eign proteins. It can be life-threatening when
inherited from the mother or father; also called it occurs in a child who has received a bone
uniparental disomy. An example is a deletion marrow or organ transplant and has a sup-
in chromosome 15q11–q13, which when pressed immune system. Symptoms include
inherited from the mother results in Angel- diarrhea, skin breakdown, and shock.
man syndrome and when inherited from the grammar The system of and rules for using
father results in Prader-Willi syndrome. units of meaning (morphemes) and syntax in
genotype The genetic composition of an language.
individual. grapheme A unit, such as a letter, of a writing
genu verum Bowed legs. system.
GERD See gastroesophageal reflux. gravida/para The number of times a woman
germ cells The cells involved in reproduc- has been pregnant (gravid) and has delivered
tion (i.e., sperm, eggs). (parous) a living infant.
German measles See rubella. grey matter The part of the brain rich in
GI See gastrointestinal tract. neurons. It comprises the cortex.
G-J tube See gastrojejunal tube. gross motor function classification system
glaucoma Increased pressure within the (GMFCS) An assessment of ambulatory
anterior chamber of the eye which can cause ability for children with cerebral palsy.
blindness. group B Streptococcus (GBS) Bacteria, caus-
glia Cells that compose the white matter and ing one of the most common and severe neo-
provide a support function for neurons. natal infections.
global developmental delay (GDD) Signifi- guanine One of the four nucleotides (chemi-
cant delays in two or more of the following cals) that comprises DNA.
domains: gross motor/fine motor, speech/ guided compliance A behavior management
language, cognition, social/personal, and technique involving the use of graduated
activities of daily living (ADL). guidance to teach functional tasks.
globus pallidus A subcortical area of the brain Guillain-Barré syndrome An acute inflam-
that is a major component of the basal ganglia matory peripheral neuropathy (see Appendix B).
and is part of the extrapyramidal system. gynecomastia Excessive breast growth in
glossoptosis Protruding tongue. males.
glucose A sugar; also called sucrose; contained gyri Convolutions of the surface of the brain;
in fruits and other carbohydrates. singular: gyrus.
Glossary 735
habilitation The teaching of new skills to hepatosplenomegaly Enlargement of the

children with developmental disabilities. It is liver and spleen.
called habilitation rather than rehabilitation herpes simplex virus (HSV) A virus that
because these children did not possess these can lead to symptoms that range from cold
skills previously. sores to genital lesions to encephalitis; also
haemophilus influenzae A bacteria that can a cause of fetal malformations and sepsis in
cause serious infections in children including early infancy.
meningitis hertz (Hz) Cycles per second; a measure of
hallucinations Sensory perceptions without the frequency of sound.
a source in the external world. These most heterotopia Migration and development of
commonly occur as symptoms of psychosis, normal neural tissue in an abnormal location
drug intoxication, or seizures. in the brain.
hamartomas A benign (not cancer) growth heterozygous Carrying two genes that are
made up of an abnormal mixture of cells and dissimilar for one trait.
tissues normally found in the area of the body hexosaminidase An enzyme, a deficiency of
where the growth occurs which leads to Tay-Sachs disease.
hand splints A form of low-tech assistive HIE See hypoxic ischemic encephalopathy.
device to children with cerebral palsy or neu- high stakes testing One of the most contro-
romuscular disorder. versial tenets of the No Child Left Behind
haploid Having a single set of human chro- (NCLB) Act of 2001. Under NCLB, all
mosomes, 23, as in the sperm or egg. students, in all schools, in all districts must
hCG See human chorionic gonadotropin. take standardized assessments to determine
hearing loss A condition characterized by whether they are functioning on grade level
a decrease in the ability to hear based on in the areas of reading/language arts, math,
decreased intensity, loudness as measured in and science, regardless of disability.
decibels (dB), or frequency of sound. high-tech assistive technology Compli-
hemangiomas Congenital abnormal masses cated and often expensive to own and main-
of blood vessels, such as “birth marks.” tain form of assistive technology.
hematocrit Percentage of red blood cells in hippocampus A region of the brain in the
whole blood, normally about 35%–40%. floor of each lateral ventricle that has a
hematologic Relating to the blood system. central role in the formation of memories,
hematopoietic Relating to the formation of emotion and rapid learning of new infor-
red blood cells. mation.
hematuria Blood in the urine. hippotherapy The therapeutic use of horse-
hemihypertrophy Asymmetric overgrowth back riding.
of the face or limbs. Hirschsprung disease Congenitally enlarged
hemiplegia Spasticity and weakness on one colon.
side of the body. HMD See Hyaline member disease.
hemispherectomy Surgical removal of most holoprosencephaly A congenital defect mani-
of one cerebral hemisphere for treatment of fest by impaired cleavage of the cerebral hemi-
intractable generalized seizures. spheres.
hemodialysis A detoxification procedure homeobox (HOX) A group of genes involved
in which an individual’s blood is gradually in early embryonic development.
removed through an artery, passed through homeostasis Metabolic equilibrium of the
an artificial kidney machine, and then body.
returned cleansed. It is used most commonly homozygous Carrying identical genes for
to treat chronic renal (kidney) failure. any given trait.
hemoglobin Blood protein capable of carry- HOX See homeobox.
ing oxygen to body tissues. HSV See herpes simplex virus.
hemolytic Excessive breakdown of red blood human chorionic gonadotropin (hCG) The
cells. hormone secreted by the embryo that pre-
hemolytic anemia Anemia due to the vents its expulsion from the uterus. A preg-
destruction of red blood cells. nancy test measures the presence of this hor-
hemostat A small surgical clamp used to con- mone in the blood or urine.
strict a tube or blood vessel. Hyaline membrane disease (HMD) A dis-
hepatomegaly Enlarged liver. order characterized by respiratory distress in
736 Gendron
the newborn period, principally in premature euphoric, talks fast or too much but not pres-
infants. Also called RDS. sured, babbling incoherently.
hybrid Offspring of parents of different hypopharynx The area at the back of the
species. throat where the larynx sits next to the
hydrocephalus A condition characterized by entrance to the esophagus.
the abnormal accumulation of cerebrospinal hypoplasia Defective formation of a tissue or
fluid within the ventricles of the brain. In body organ leading it to be small and under-
infants, this leads to enlargement of the head developed.
and compression of the brain. hypoplastic lungs Small lungs that are not
hyperacusis Unusual sensitivity to certain fully developed.
sounds such as a vacuum cleaner, often found hypospadias A congenital defect in which the
in children with autism. opening of the urethra is on the underside,
hyperalimentation See parenteral feeding. rather than at the end, of the penis.
hyperbilirubinemia Excess accumulation of hypotension Low blood pressure.
bilirubin in the blood, which can result in jaun- hypothalamus A portion of the brain that
dice, a yellowing of the complexion and/or the directs a number of important bodily func-
whites of the eyes, or kernicterus, the yellow tions including many autonomic functions of
staining of certain central parts of the brain. the peripheral nervous system. Connections
hypercholesterolemia Elevated cholesterol with structures of the endocrine and nervous
levels in blood. systems enable the hypothalamus to play a
hyperglycemia High blood sugar level as vital role in maintaining homeostasis. The
seen in diabetes. hypothalamus also influences various emo-
hyperimmune globulin Blood that is espe- tional responses.
cially rich in antibodies against a virus. hypothermia Excessively low body tempera-
hyperkalemia Elevations in levels of potas- ture.
sium in the blood. hypothyroidism Condition resulting from
hyperopia Farsightedness. deficient production of thyroid hormone.
hyperparathyroidism High level of blood hypotonia Decreased muscle tone.
parathyroid hormone, which causes abnormal- hypoxemia Seriously low blood oxygen sup-
ities in calcium and phosphorous metabolism. ply to the entire body.
hyperphagia Pathological overeating. hypoxic Having reduced oxygen content in
hyperreflexia Increased deep tendon reflexes, body tissues.
such as the knee jerk. hypoxic ischemic encephalopathy (HIE)
hypersynchronous In the context of the cen- An acute brain malfunction often resulting in
tral nervous system (CNS), pertaining to the coma caused by acute reduction in the blood
discharge of many neurons at the same time flow and the oxygen supply to the brain.
that leads to a seizure. hypsarrhythmia Electroencephalographic
hypertelorism Widely spaced eyes. (EEG) abnormality seen in infants with
hypertension Elevated blood pressure. infantile spasms. It is marked by chaotic
hyperthyroidism Condition resulting from spike–wave activity.
excessive production of thyroid hormone. hysterectomy The surgical removal of the
hypertonia Increased muscle tone as seen in uterus.
spastic cerebral palsy. Hz See hertz.
hypertrichosis Excessive hair growth. ichthyosis Dry and scaly skin.
hypertrophy Overgrowth of a body part or ictal Pertaining to a seizure event.
organ. IDDM See insulin-dependent diabetes mellitus.
hypocalcemia Low blood calcium level. idiopathic Without an identifiable cause.
hypogenitalism Having small genitalia. IEP See individualized education program.
hypoglycemia Low blood sugar level, usually IFSP See individualized family service plan.
below a concentration of 40–50 milligrams IH See learning/instructional hierarchy.
of glucose per 100 milliliters of blood for a ileostomy A surgically placed opening from
period of time. the small intestine through the abdominal
hypogonadism Decreased function of sex wall to divert bowel or bladder contents after
glands with resultant retarded growth and an operation.
sexual development. ileum Lower portion of the small intestine.
hypomania Symptoms not severe enough to imitation training A behavior management
meet full mania criteria with being silly not technique in which the teacher demonstrates
Glossary 737
the desired behavior, asks the child to com- infantile spasms A seizure type in infancy
plete the action, and provides positive rein- marked by brief flexor spasms, usually lasting
forcement when the task is completed. 1–3 seconds.
immunoglobulin An antibody produced by inferior In anatomy, below.
the body after exposure to a foreign agent, inferior vena cava The main vein feeding
such as a virus. into the baby’s heart.
impact In reference to traumatic head injury, influenza An acute illness caused by a virus
the forcible striking of the head against an that attacks respiratory and gastrointestinal
object. tracts.
imperforate Lacking a normal opening in a informed consent The written consent of a
body organ. The most common example in person to undergo a procedure or treatment
childhood is an absent or closed anus. after its risks and benefits have been explained
implantation The attachment and imbed- in easily understood language.
ding of the fertilized egg (blastocyst) into the inhaled nitric oxide (iNO) A new therapeu-
mucous lining of the uterus. tic gas for treating persistent pulmony hyper-
in utero Occurring during fetal development. tension of the neonate (PPHN). It is mixed
in vitro fertilization Fertilization of har- with the baby’s oxygen supply in miniscule
vested eggs and allowing them to develop in amounts and directly stimulates pulmonary
culture to the blastomere, or eight-cell stage, function.
at which point they are implanted into the instructional training A behavior man-
uterus of the recepient. agement technique in which the teacher
inborn error of metabolism An inherited describes the desired behavior, asks the child
enzyme deficiency leading to the disruption to perform it, and provides positive reinforce-
of normal bodily metabolism (e.g., phenylke- ment upon completion of the task.
tonuria [PKU]). insulin-dependent diabetes mellitus
incidence The rate of occurrence of new (IDDM) A disorder in which blood sugar
cases of a disorder in a population expressed level is high enough to require treatment with
as a function of time. insulin.
incidental teaching An ardent attempt to insult An attack on a body organ that causes
catch the child complying with commands damage to it. This may be physical, meta-
or following instructions in his or her bolic, immunological, or infectious.
everyday life and to praise (reinforce) the integrative medicine Refers to a practice
performance. that combines conventional and types of
incisors Front teeth used for cutting. complementary and alternative treatments
incus One of the three small bones in the for which there is evidence of safety and
middle ear that help amplify sound. effectiveness.
independent residential alternatives (IRA) intellectual disability Significantly subaver-
Independent living centers; group homes age general intellectual functioning accompa-
designed for 1–3 individuals. nied by significant limitations in adaptive func-
indirect assessment Simplest method of tioning; previously called mental retardation.
gathering information about behavioral func- intensity Strength.
tion that consist of questionnaires and rating interictal In an individual with a seizure dis-
scales that are completed by caregivers order, pertaining to the periods when seizures
individualized education program (IEP) A are not occurring.
written plan, mandated by federal law, that internal capsule The area of white matter in
maps out the objectives and goals that a the brain that separates the caudate nucleus
child receiving special education services is and the thalamus from the lenticular nucleus.
expected to achieve over the course of the The internal capsule contains both ascending
school year. and descending axons so it can control distant
individualized family service plan (IFSP) A movement.
written plan detailing early intervention and interpersonal psychotherapy (IPT) A time-
related services to be provided to an infant or limited psychotherapy that focuses on build-
toddler with disabilities in accordance with ing interpersonal skills
federal law. interphase The period in the cell life cycle
inertial Pertaining to the tendency to keep when the cell is not dividing.
moving in the same direction as the force that interval schedules Provision of reinforce-
produced the movement. ment based on the passage of a certain amount
738 Gendron
of time relative to the child’s performance of Klebsiella pneumoniae A bacteria that can
a behavior or task. cause pneumonia, especially in immunocom-
intrathecal The infusion of medication into promised individuals.
the spinal space. kyphoscoliosis A combination of humping
intrauterine growth restriction (IUGR) and curvature of the spine.
Restricted growth in the fetus, producing a small kyphosis An excessive anterior (forward) cur-
for gestational age at-birth baby, often resulting vature of the spine creating a hump.
from abnormal placental development. labyrinth One of the major components of
intravenous Infusion into a vein. the inner ear, the other being the cochlea.
intraventricular hemorrhage (IVH) A lactase Enzyme necessary to digest the milk
hemorrhage into the cerebral ventricles. sugar lactose.
intubation Insertion of a tube through the lactic acid Chemical produced in muscles as a
nose or mouth into the trachea to permit result of anaerobic glucose metabolism.
mechanical ventilation. lacrimal gland Gland that produces tears.
inversion In genetics, the result of two breaks lactose Milk sugar composed of glucose and
on a chromosome followed by the reinsertion galactose.
of the missing fragment at its original site but laminar Layered.
in the inverted order. lanugo Fine body hair found in premature
ionic Pertaining to mineral ions, a group of infants.
atoms carrying a charge of electricity. large for gestational age (LGA) Weigh-
iris The circular, colored membrane behind ing more than 4 kilograms, about 9 or more
the cornea that surrounds the pupil. pounds at birth. This typically occurs in
ischemia A decreased blood flow to an area of infants of diabetic mothers.
the body that leads to tissue death. lateral To the side; away from the mid-line.
isochromosome A chromosome with two lateral ventricles Cavities in the interior of
copies of one arm and no copy of the other. the cerebral hemisphere containing cerebro-
isometric contraction Muscular contraction spinal fluid. They are enlarged with hydro-
against resistance in which the length of the cephalus or with brain atrophy.
muscle remains the same. Law of Effect Functional relationship between
ITP See individualized transition plan. behavior and its consequences.
IUGR See intrauterine growth restriction. LBW See low birth weight.
IVH See intraventricular hemorrhage. learned helplessness Occurs when families,
J tube See jejunostomy tube. teachers, and other well-intentioned people
Jacksonian seizure Spread of focal epilepti- often protect youth with disabilities from
form activity to contiguous brain areas result- making mistakes and avoid discussing the
ing in seizure which starts in one part of the ramifications of a child’s disability as they
body and involves adjacent body regions as help them prepare for adulthood.
seizure evolves. learning disability A developmental disabil-
jaundice A yellowing of the complexion and ity characterized by difficulty with certain
the whites of the eyes resulting from hyper- academic skills such as reading or writing in
bilirubinemia. individuals with normal intelligence.
jejunostomy ( J) tube A tube placed through learning/instructional hierarchy (IH) IH
the skin of the abdomen and directly into the describes behaviors to be learned and mas-
jejunum to provide nutrition. tered, not only by their form but by the
jejunum The second portion of the small level of proficiency with which they are
intestine. performed.
karyotyping Photographing the chromo- left ventricular hypertrophy Enlargement
somal makeup of a cell. In a human, there are of the left side of the heart.
23 pairs of chromosomes in a normal karyo- lens The biconvex, translucent body that
type. rests in front of the vitreous humor of the
ketogenic diet Special diet high in fat used eye and precisely focuses the light rays on
to promote the use of ketones as an energy the retina.
source; used in some children with intractable lentiform nucleus A large, cone-shaped
epilepsy. mass of gray matter just lateral to the internal
ketosis The buildup of acid in the body, most capsule of the brain.
often associated with starvation, inborn errors lesions Injuries or loss of function.
of metabolism, or diabetes. leukemias Blood cell cancers.
Glossary 739
LGA See large for gestational age. the fovea centralis, where central vision is
ligament A sheet or band of tough, fibrous processed.
tissue connecting bones or cartilage at a joint. magnetic resonance imaging (MRI) Imag-
ligamentous laxity Double jointedness; ing procedure that uses the magnetic reso-
hyperflexiblity. nance of atoms to provide clear images of
linear fracture Break of a bone in a straight interior parts of the body. It is particularly
line; refers to a type of skull fracture or frac- useful in diagnosing structural abnormalities
ture of a long bone (arm or leg). of the brain.
lipid metabolism The creation and/or break- magnetic resonance spectroscopy (MRS)
down of lipids including cholesterol and fat- A study that can be done as part of a regu-
soluble vitamins. lar MRI scan. Rather than provide a picture
lipoma A benign, fatty tissue tumor. of the brain, it analyzes the presence and
lissencephaly A congenital abnormality amount of certain metabolic components in
marked by a “smooth” brain due to incom- various brain regions. It is particularly help-
plete neuronal proliferation and migration ful in diagnosing certain inborn errors of
and resultant lack of folds (gyri) and grooves metabolism, such as mitochondrial disorders
(sulci). (see Appendix B).
listeria monocytogenes The causative agent major depression A prolonged period of
of listeriosis. depressed mood.
locus Focus or location. malleus One of the three small bones in the
lordosis An excessive posterior (backward) middle ear that help amplify sound.
curvature of the spine. malnutrition Inadequate nutrition for typical
low birth weight (LBW) Term often used growth and development to occur.
to describe an infant with a birth weight less malocclusion The improper fitting together
than 2,500 grams (5½ pounds). of the upper and lower teeth.
lower esophageal sphincter (LES) The mandible Lower jaw bone.
muscular valve connecting the esophagus and mania A distinct period of abnormally and
stomach and normally preventing reflux. persistently elevated, expansive, or irritable
low-tech assistive technology An assistive mood. This mood disturbance is sufficiently
device that does not require batteries or other severe to cause impairment in function.
electric sources to operate. manic depression See bipolar disorder.
lumbar Pertaining to the lower back. Marfan syndrome Disorder of connective
lumbar puncture The tapping of the sub- tissue the strengthens the body’s structures.
arachnoid space to obtain cerebrospinal fluid (see Appendix B).
from the lower back region. This procedure mass spectrometry A technique used for
is used to diagnose meningitis and to mea- identifying chemical, drug, or metabolic
sure chemicals in the spinal fluid; also called abnormalities in the blood or urine.
a spinal tap. mastoiditis Infection of the mastoid air cells
lymphadenopathy Enlargement of lymph that rest in the temporal bone behind the ear.
nodes. This is an infrequent complication of chronic
lymphocyte A type of white blood cell. middle-ear infection.
lymphoma A cancerous growth of lymphoid mature minor A teenage minor who may
tissue. give consent because the physician judges
lyonization The genetic principle discovered that he or she understands the nature, pur-
by Mary Lyon that there is X-chromosome pose, and risks of the proposed treatment;
inactivation in females. generally limited to minors at least 15 years
lysosome Minute organelle in cells that con- old where the treatment is for the patient’s
tains enzymes used to digest potentially toxic own benefit and is judged necessary by con-
material. servative medical opinion (compare with
macrocephaly Large head size. emancipated minor).
macroorchidism Having abnormally large maxilla The bony region of the upper jaw.
testicles; found in fragile X syndrome. maxillary hypoplasia Incomplete develop-
macrosomia Large body size. ment of the upper jaw.
macrostomia Large mouth. MBD See metabolic bone disease.
macula The area of the retina that contains meconium The thick and tarry stool that
the greatest concentration of cones and is formed during fetal life consisting of
740 Gendron
swallowed amniotic fluid debris, gastrointes- menses Menstrual flow.

tinal mucous and green bile secretions from mental retardation See intellectual disability.
the liver, and sloughed off gastrointestinal mentation Thinking.
epithelial cells; is not normally passed until mesencephalon Midbrain region.
after birth. mesoderm Middle cell layer in the embryo.
medial Toward the center or mid-line. messenger ribonucleic acid (mRNA) RNA,
median plane The mid-line plane of the synthesized from a DNA template during
body. It runs vertically and separates the left transcription, that mediates the transfer of
and right halves of the body. genetic information from the cell nucleus to
medical assistive technology Subset of ribosomes in the cytoplasm, where it serves as
assistive technology that is used for primarily a template for protein synthesis.
medical or life-sustaining reasons (e.g., venti- metabolic bone disease (MBD) Previously
lators, feeding pumps). called renal osteodystrophy, results from
medical home Involves a trusting partner- abnormalities in calcium, phosphorous, vita-
ship between a child, a child’s family, and the min D, and parathyroid hormone.
pediatric primary care team who oversees the metaphase The stage in cell division in which
child’s health and well-being within a com- each chromosome doubles.
munity-based system that provides uninter- metaphyses The ends of the shaft of long
rupted care to support and sustain optimal bones connected to the epiphyses.
health outcomes. methionine An amino acid.
medication See Appendix C. methylation The attachment of methyl
medium chain fatty acids Fatty acids that groups to DNA at the cytosine base that turns
can bypass the normal uptake process and go gene function off.
directly to the liver. microcephaly Abnormally small head.
medulloblastomas Cerebellar tumors. microdeletion A microscopic deletion in a
megavitamin therapy The use of more than chromosome associated with a loss of a small
10 times the average daily required amount of number of contiguous genes; a chromosomal
vitamins; also called orthomolecular therapy. deletion spanning several genes that is too
meiosis Reductive cell division occurring small to be detected under the microscope
only in eggs and sperm in which the daughter using conventional cytogenetic methods
cells receive half (23) the number of chromo- but can be detected using newer molecular
somes of the parent cells (46). genetic techniques such as FISH and micro-
melanocytes Pigment-forming skin cells. arrays.
melatonin A naturally occurring hormone microdeletion syndromes Genetic disor-
available as an over-the-counter prepara- ders caused by mutations in a small number
tion for which there is evidence of efficacy in of contiguous genes, an example being velo-
improving sleep onset in children with dis- cardiofacial syndrome; see contiguous gene
abilities who have sleep problems. syndrome.
Mendelian traits Dominant and recessive micrognathia Receding chin.
traits inherited according to the genetic prin- microphthalmia Small eye.
ciples put forward by Gregor Mendel. micropreemie Term often used to describe
meningeal Related to the meninges, the an infant born weighing less than 800 grams
three membranes enveloping the brain and (1.75 pounds).
spinal cord. microswitches Switches used to control
meningitis Infection, often bacterial, of the computers, environmental control systems,
meninges or sac that surround the brain. or power wheelchairs that have been adapted
meningocele Protrusion of the meninges so that less pressure than normal is required
through a defect in the skull or vertebral col- for activation.
umn, a neural tube defect. microtia Small ear.
meningoencephalitis A generalized and microtrauma Small injuries such as stress
often devastating infection of the brain and cracks or fractures that occur in the growth
central nervous system. area or cartilage of growing bones as a result
meningomyelocele Protrusion of meninges of high impact or overloading.
and malformed spinal cord through a defect mid-tech assistive technology An assistive
in the vertebral column; also called myelome- device that generally requires battery/ electri-
ningocele. cal power or is more complex in its use; for
Glossary 741
example, teletypewriter (TTY) devices for MOSF See multi-organ system failure.
those who are deaf, home-infusion pumps, motivating operations (MOs) Play a central
suction machines, and sophisticated manual role in the operant learning conceptualiza-
wheelchairs. tion of motivation; produces two effects: 1) a
MII See multiple intraluminal impedance. change in the value of a consequence, and
milligram One thousandth of a gram. 2) a corresponding change in the strength of
milliliter One thousandth of a liter; equal to motivation.
about 15 drops. motor point block The injection of a dena-
missense mutation Gene error (mutation) turing agent into the nerve supply of a spastic
resulting from the replacement of a single muscle. This effectively interrupts the nerve
nucleic acid for another, resulting in a mis- supply at the entry site to a spastic muscle
reading of the DNA code. without compromising sensation and results
mitochondrial myopathy Congenital mus- in the return of tone towards normal.
cle disorder caused by a mutation in the mito- MRI See magnetic resonance imaging.
chondrial DNA. mRNA See messenger ribonucleic acid.
mitosis Cell division in which two daughter MRS See magnetic resonance spectroscopy.
cells of identical chromosomal composition MS/MS See tandem mass spectrometer.
to the parent cell are formed. Each contains mucopolysaccharides Product of metabo-
46 chromosomes. lism that may accumulate in cells and cause
mixed cerebral palsy A form of cerebral a progressive neurological disorder (e.g.,
palsy with spastic and dyskinetic components; Hurler syndrome, see Appendix B).
this term is used when more than one type of multifactorial Describing an inheritance
motor pattern is present and when one pattern pattern in which environment and heredity
does not clearly predominate over another. interact.
MOs See motivating operations. multi-organ system failure (MOSF) This
modification In special education, a substan- devastating condition can result from the
tial change in the method or scoring scale diving reflex during severe hypoxic ischemic
used to assess a student’s academic perfor- encephalopathy (HIE).
mance or knowledge (e.g., using a portfolio multiple intraluminal impedance (MII) A
of work to demonstrate a student’s learning). relatively new technology that measures the
molded ankle-foot orthoses A plastic insert movement of fluids, solids, and air in the
for the shoe that is used to treat toe walking. esophagus.
monosomy Chromosome disorder in which muscle spindles Muscle fibers that are
one chromosome is absent. The most com- part of the reflex arc that controls muscle
mon example is Turner syndrome, XO (see contraction.
Appendix B). muscle and tendon structures Muscle and
monosomy X Turner syndrome (see Appen- tendons associated with long bones such as
dix B). the tibia, fibia, and femur that are more suc-
morbidity Medical complication of an illness, ceptable to injury during growth periods.
procedure, or operation. musculoskeletal Referring to the muscle and
moro reflex A primitive reflex elicited when a bone support system of the body.
newborn infant experiences a sudden drop of mutation A change in the genomic sequence
the head and neck or a loud noise. The infant resulting in a variant form that may be trans-
responds with sudden extension and then mitted to subsequent generations and may be
flexion of the neck, arms, and legs, and then associated with disease.
cries irritably. myasthenia gravis Neuromuscular disorder
morphemes The smallest linguistic units of involving the muscles and the nerves that
meaning. control them (see Chapter 13).
morula The group of cells formed by the first myelinated Insulating sheath around many
divisions of a fertilized egg. nerve fibers in the white matter, increasing
mosaic trisomy Type of Down syndrome in the speed at which impulses are conducted.
which the individual has two distinct popula- myelination The production of a coat-
tions of cells, one containing 46 chromosomes ing called myelin around an axon, which
and the other containing 47 chromosomes. quickens neurotransmission; a process that
mosaicism The presence of two genetically involves elaboration of supportive struc-
distinct types of cells in one individual. tures that improve transmission of electrical
742 Gendron
impulses from one part of the nervous system neonatal seizure Seizures in newborn
to another. infants appear different than in older chil-
myelomeningocele See meningomyelocele. dren. The seizure may manifest as arm and/
myoclonus Irregular, involuntary contrac- or leg tonic/clonic movements seeming like
tion of a muscle. bicycling or rowing. Movements may also be
myoglobinuria The spillage of myoglobin, more subtle including spasmodic lip smack-
the oxygen-transporting protein of muscle, ing or tongue thrusting, ocular movements
into the urine. This can occur with trauma, such as excessive blinking or prolonged eye
vascular problems, certain drugs and other opening/staring, or episodes of apnea and
situations that destroy or damage the muscle, bradycardia.
releasing myoglobin into the circulation and nerve blocks Direct injection of denaturing
thus to the kidneys. agents into motor nerves to decrease spasticity.
myopathies A muscular disease in which the nerve conduction studies (NCS) Involves
muscle fibers do not function for any one of placing needle electrodes at various points on
many reasons, resulting in muscular weak- the body to test motor and sensory function
ness. The most common example is muscular of the peripheral nerves.
dystrophy. nerve conduction velocity Measure of nerve
myopia Nearsightedness. function.
myosin Protein necessary for muscle con- neuropores The rostral and caudal open-
traction. ings of the neural tube which close around six
myotonia Abnormal rigidity of muscles when weeks gestational age.
voluntary movement is attempted. neural fold During embryonic life, the fold
myringotomy The surgical incision of the created when the neural plate expands and
eardrum, usually accompanied by the place- rises; later it becomes the spinal column.
ment of pressure-equalization tubes, to drain neural network A network involving many
fluid from the middle ear. brain regions working in concert to store
nasal cannula A plastic prong placed in the and use information obtained from the
nose and connected to a tube that delivers an environment.
oxygen/air mixture. neural plate Earliest fetal brain mass devel-
nasal pillows A prop attached to an oxygen opment derived from the ectodermal germ
line to permit the flow of oxygen directly into layer of the embryo in the first 7 weeks of
the nose. gestation.
nasogastric (NG) tube A feeding tube placed neural proliferation A sustained period
in the nose and extended into the stomach. of vigorous cellular division which peaks
nasojejeunal tube A feeding tube placed in between 6 and 22 weeks gestational age, giv-
the nose and extended through the stomach ing rise to precursors of the future neuronal
and into the jejeunum. and glial populations of the brain.
nasopharynx Posterior portion of the oral neural tube The stage of central nervous sys-
cavity above the palate. tem (CNS) development that follows neural
NCS See nerve conduction studies. plate formation, which subsequently gives
NDT See neurodevelopmental therapy. rise to the various parts of the brain (i.e., the
NEC See necrotizing enterocolitis. forebrain folding into the cerebrum and the
necrosis Death of tissue. hindbrain into the cerebellum, brainstem,
necrotizing enterocolitis (NEC) Severe and spinal cord).
inflammation of the small intestine and colon, neural tube defects (NTDs) Birth defects of
most common in premature infants. the brain and spina cord (i.e., spina bifida and
negative punishment Involves the contin- anencephaly).
gent removal of a consequence (i.e., positive neurodevelopmental treatment (NDT) An
reinforcer). intervention approach used with children
negative reinforcement Behavioral phe- with neurologically based motor disabilities
nomenon in which an individual’s behavior such as cerebral palsy.
permits an unpleasant event to be avoided neurogenesis The birth of neurons.
or escaped, with a resultant increase in this neurogenic Originating in, starting from,
behavior in the future. or caused by the nervous system or nerve
neonatal intensive care unit (NICU) Hos- impulses.
pital unit specializing in providing newborn neuroleptic malignant syndrome A rare
life support treatments. toxic reaction to a medication in which there
Glossary 743
is a potentially life-threatening high fever, occipital lobe The posterior area of the brain
most commonly a problem with anesthetic where the visual receptive cortex is located.
agents. OCD See obsessive-compulsive disorder.
neuromuscular Affecting both muscles and ocular Pertaining to the eye.
nerves. oculomotor nerve The third cranial nerve
neuron Any of the impulse-conducting cells controls the four eye muscles not controlled
that constitute the brain, spinal column, and by the trochlear and abducens nerves.
nerves, consisting of a nucleated cell body oligodendrocytes A type of glial brain cell.
with one or more dendrites and a single axon; oligohydramnios The presence of too lit-
also called a nerve cell. tle amniotic fluid, which may result in fetal
neurotoxicant A chemical compound that deformities, including clubfoot and hypoplas-
can damage neurons; also called neurotoxin. tic lungs.
neurotransmitter A chemical released at oliguria Decreased passage of urine.
the synapse that permits transmission of an omphalocele Congenital herniation of
impulse from one nerve to another. abdominal organs through the navel.
neurulation Sequential central nervous onychomycosis A fungal infection of the
system (CNS) developmental processes of nails.
neuron cell proliferation and migration of oophorectomy Surgical removal of the ovary
nascent neurons outward from the center of or ovaries.
the developing brain to the outer cortex. operant control Control established and
neutropenia Low white blood cell count. maintained by operant contingencies (i.e., the
NG tube See nasogastric tube. relationships in effect between the behavior
NICU See neonatal intensive care unit. and its consequences).
nondisjunction Failure of a pair of chromo- ophthalmologist Physician specializing in
somes to separate during mitosis or meiosis, treatment of diseases of the eye.
resulting in an unequal number of chromo- ophthalmoscope An instrument containing
somes in the daughter cells. a mirror and a series of magnifying lenses
nonsense mutation Gene defect in which used to examine the interior of the eye.
a single base pair substitution results in the opiate antagonists A category of medications
premature termination of a message and the that block endorphin receptors of the brain.
resultant production of an incomplete and opisthotonos Abnormal positioning of the
inactive protein; see missense mutation. body in which the back is arched while the
norepinephrine A neurotransmitter. head and feet touch the bed; holding the head
NTDs See neural tube defects (see Chapter 25). arched backward.
nucleotide bases The nucleic acids that form optic chiasm Located just before the nerves
DNA—adenine, guanine, cytosine, and thy- enter the brain, it is where crossover of nerve
mine. fibers occurs.
nutritive assistive devices Devices that optic nerve Transmits visual information
assist in providing nutrition to an individual from the retina to the brain.
who cannot take oral feeding. These include optokinetic Pertaining to movement of the
nasogastric and gastrostomy feeding tubes. eyes.
nystagmus Involuntary rapid movements of oral pharyngeal musculature Muscles in the
the eyes (jiggling of the eyes) due to abnor- throat.
malities in the cerebellum. oral preparatory phase (Phase I) The step
oblique muscles Eye muscles whose primary preceding swallowing in which food is formed
function is to rotate the eyes. Their secondary into a bolus in the mouth.
function is to handle moving the eyes hori- oral transport (Phase II) The transport of
zontally and vertically. a bolus of food to the back of the mouth so
obsessive-compulsive disorder (OCD) A that it can be swallowed; primarily under voli-
psychiatric disorder in which recurrent and tional control.
persistent thoughts and ideas that cannot be organ of Corti A series of hair cells in the
suppressed (obsessions) are associated with cochlea that form the beginning of the audi-
repetitive behaviors (compulsions), such as tory nerve.
excessive handwashing. organic acidemias Inborn errors of
obstructive uropathy Pathologic condition metabolism involving enzyme deficien-
that blocks urine flow. cies in the breakdown of organic acids (e.g.,
744 Gendron
methylmalonic aciduria; see Appendix B); also overt strokes Involves a focal (localized)
called organic acid disorders and organic acid- neurological deficit that lasts more than
urias. 24 hours and results from an occlusion of
ornithine transcarbamylase An enzyme in one of the large anterior cerebral circulation
the urea cycle. An inborn error of metabo- vessels.
lism involving a deficiency of this enzyme oxidative phosphorylation A chemical reac-
leads to episodes of encephalopathy. tion occurring in the mitochondrion, result-
orocutaneous stimulation This stimulation ing in energy production.
therapy mimics the temporal organization of oximeter An instrument that measures oxy-
sucking and can enhance the premature infant’s gen saturation in the bloodstream.
acquisition of a functional suckle pattern. oxygenation The provision of sufficient oxy-
oropharynx The part of the pharynx between gen for bodily needs.
the soft palate and the upper edge of the epi- pachygyria Abnormal convolutions on the
glottis. surface of brain.
orthomolecular therapy See megavitamin palatal Relating to the palate, the back por-
therapy. tion of the roof of the mouth.
orthopedic Relating to bones or joints. palate The roof of the mouth.
orthosis Orthopedic device (e.g., a splint pancreatitis An inflammation of the pancreas.
or brace) used to support, align, or correct panic disorder A psychiatric disorder in
deformities or to improve the function of which the patient has episodes of sudden and
limbs; plural: orthoses; also called orthotic. irrational fears associated with hyperventila-
orthotic Device that supports or corrects tion and palpitations.
the function of a limb or the torso; also called paraplegia Paralysis of the legs and lower
orthosis. body.
orthotist Professional trained in the fitting parapodium A reciprocal gait orthosis or a
and construction of splints, braces, and arti- hip-knee-ankle-foot orthosis used in combi-
ficial limbs. nation with crutches or a walker.
osmolarity The concentration of dissolved parasomnia Sleep disturbances (i.e., night
particles in a liquid. terrors, sleep walking).
ossicles The three small bones in the middle parenchymal Tissue within a body organ.
ear—the stapes, incus, and malleus. parenteral feeding Intravenous provision of
osteoarthritis Degenerative joint disease. high-quality nutrition (i.e., carbohydrates,
osteoblasts Cells that produce bony tissue. protein, fat) used in children with malabsorp-
osteoclast Cell that absorbs and removes tion, malnutrition, and short bowel syndrome;
bone. also called hyperalimentation; parenteral feed-
osteoid The substrate of bone. ing is usually administered in a hospital set-
osteopenia The loss of bony tissue resulting ting on a short-term basis.
in low bone density. parenting networks Parents who educate
osteopetrosis A genetic disorder marked by and support one another.
deficient osteoclastic activity. A buildup of paresthesias Numbness with skin sensations
bone encroaches on the eye, brain, and other such as burning, prickling, itching, or tingling.
body organs, leading to early death; bone parietal lobe The middle-upper part of
weakness. the hemisphere of the brain; brain region
osteotomies Surgical cuts through the bone involved in integrating sensory information
to correct deformities. and in visual-spatial processing.
ostomy An artificial opening in the abdomi- Parkinson’s disease A progressive neurolog-
nal region, for example, for discharge of stool ical disease, usually occurring in older people,
or urine. associated with tremor, slowed movements,
otitis media Middle-ear infection. and muscular rigidity.
otoacoustic emissions Low-intensity sound parotid The salivary gland beside the ear.
energy emitted by the cochlea subsequent to paroxysmal Intermittent.
sound stimulation as measured by a micro- partial graduated guidance Instructor uses
phone coupled to the external ear canal. minimal physical contact but much praise in
ototoxic Toxic to the auditory nerve, leading helping the child learn a desired task.
to hearing impairment. parvovirus A group of extremely small DNA
oval window Connects the middle to the viruses. Intrauterine infection with one type
inner ear. of parvovirus increases the risk of miscarriage
Glossary 745
but has not been shown to result in fetal mal- persistent pulmonary hypertension of
formations. the newborn/persistent fetal circulation
patella Kneecap. (PPHN/PFC) Persistent high pulmonary
patent ductus arteriosus (PDA) The persis- blood pressure in the newborn period due
tence of a fetal passage permitting blood to to vasoconstriction of the pulmonary arterial
bypass the lungs. blood vessels and resulting in severe hypoxia.
patent foramen ovale (PFO) A tiny open pervasive developmental disorder (PDD)
window in the atrial wall of the heart passing One of the autism spectrum disorders (see
oxygenated blood from the right atrium into Chapter 21).
the left atrium, thus bypassing circulation to pes cavus High-arched foot.
the fetal lungs in utero. pes planus Flat feet.
paternalism Imposing a decision on another pesticide A chemical used to kill insects.
person for that person’s welfare (e.g., the the- PET scan See positron emission tomography.
ory that “doctor knows best”). petechiae A small purplish spot, usually on
PBIS See positive behavior interventions and the skin, caused by a minute hemorrhage.
supports. PFO See patent foramen ovale.
PCB See polychlorinated biphenyl. PGD See preimplantation genetic diagnosis.
PDA See patent ductus arteriosus. pH probe A small sensor, which detects the
PDD pervasive developmental disorder (see pH, or acidity, above the gastroesophageal
Chapter 21). junction.
PEEP See positive end expiratory pressure. phalanges Bones of the fingers and toes.
penetrance The percentage of people with a pharyngeal Pertaining to the pharynx or
particular genetic mutation who express symp- back of the throat.
toms of the disorder. A disorder shows reduced pharyngeal transfer phase (Phase III) The
penetrance when some people with the genetic transfer of a food bolus from the mouth to the
defect are completely without symptoms. pharynx on its way to being swallowed; begins
percutaneous umbilical blood sampling when the bolus passes the faucial arches (near
(PUBS) A prenatal diagnostic procedure the tonsils) and triggers the start of the swal-
for obtaining fetal blood for genetic testing; lowing cascade.
also called cordocentesis. pharynx The back of the throat.
percutaneously Through the skin. phenothiazines Antipsychotic medications
perfusion The passage of blood through the that affect neurochemicals in the brain and
arteries to an organ or tissue. are used to control aggressive behavior and
periodontal disease Disease of the gums and psychotic symptoms.
bony structures that surround the teeth. phenotype The physical appearance of a
periosteum Fibrous tissue covering and pro- genetic trait.
tecting all bones. phenylalanine An amino acid, the elevation
peripheral nervous system The parts of the of which causes phenylketonuria (PKU).
nervous system other than the brain and spi- phenylketonuria (PKU) Birth defect in
nal cord. which a child is born without the ability to
peripheral venous lines Catheters that are break down amino acids called phenylalanine.
placed in a superficial vein of the arm or leg philtrum Groove between nose and mouth.
to provide medication. phobias Irrational fears.
peristalsis The voluntary constriction and phocomelia Congenitally foreshortened limbs.
relaxation of the muscles of the esophagus phoneme The smallest unit of sound in
and intestine, creating wavelike movements speech.
that push food forward. phonetic Pertaining to the sounding out of
peritoneal Referring to the membrane sur- words.
rounding the abdominal organs. phonological processing disorder A devel-
periventricular leukomalacia (PVL) Injury opmental disorder in which there is difficulty
to part of the brain near the ventricles caused learning the rules about which sounds go
by lack of oxygen; occurs principally in pre- together in specific positions within words
mature infants. when sounds are voiced or voiceless.
periventricular region The area surround- phonology The set of sounds in a language
ing the ventricles. and the rules for using them.
peroxisome A cellular organelle involved in photoreceptors Receptors for light stimuli;
processing fatty acids. the rods and cones in the retina.
746 Gendron
physes Growth plates of a developing long polar body testing Polar bodies are the by-
bone. products of the egg’s division during meiosis.
physiotherapy Physical therapy. The two polar bodies are essentially discarded
pica The hunger for or ingestion of nonfood by the egg. By analyzing the polar bodies, it is
items. possible to infer the genetic status of the egg.
pitch The frequency of sounds, measured in polio Viral infection of the spinal cord caus-
cycles per second, or hertz (Hz). Low-pitched ing an asymmetrical ascending paralysis, now
sounds have a frequency less than 500 Hz and prevented by vaccination.
a bass quality. High-pitched sounds have a fre- polychlorinated biphenyl (PCB) One of a
quency greater than 2,000 Hz and a tenor quality. group of organic compounds originally used
PKU See phenylketonuria (see Chapter 19 and in industry and now recognized as an envi-
Appendix B). ronmental pollutant.
placebo An inactive substance used as a con- polydactyly Extra fingers or toes.
trol in a study to determine the effectiveness polyhydramnios The presence of excessive
of a drug. amniotic fluid; often associated with certain
placenta The organ of nutritional exchange fetal anomalies such as esophageal atresia
between the mother and the embryo. It has polymicrogyria A brain with too many con-
both maternal and embryonic portions, is voluted gyri that are smaller than normal,
disc-shaped, and is about 7 inches in diam- due to abnormal neuronal migration during
eter. The umbilical cord attaches in the cen- embryogenesis of the central nervous system.
ter of the placenta. Also called the afterbirth; polysomnogram Procedure performed dur-
adjective: placental. ing sleep that involves monitoring the elec-
placenta accreta Abnormal adherence of the troencephalogram (EEG), electrocardiogram
chorionic villi to the uterus. (EKG), and respiratory efforts. It is used to
placenta previa Condition in which the pla- investigate individuals with sleep disorders,
centa is implanted in the lower segment of the including sleep apnea; also called a sleep study.
uterus, extending over the cervical opening. polyuria Excessive passage of urine.
placental abruption See abruptio placenta; POR See prevalence odds ratio.
early separation of the placenta from the uter- positive behavioral interventions and sup-
ine wall. ports (PBIS) Positive reinforcement used
planned ignoring A behavior management to control undesired behaviors.
technique based on withholding positive positive end expiratory pressure (PEEP)
reinforcement following the occurrence of Technique administered to a child who is
a nondangerous, nondestructive challenging on a mechanical ventilator in which positive
behavior; also called extinction. pressure is administered between mechanical
plantarflexion A toe-down motion of the breaths.
foot at the ankle. positive pressure ventilation Application
plantargrade Flat on the floor. of positive pressure to the inspiratory phase
plasma The noncellular content of blood; also when the patient has an artificial airway in
called serum. place and is connected to a ventilator.
plasmapheresis The removal of blood fol- positive punishment Involves the contin-
lowed by filtering the plasma and reinfusing gent delivery of a consequence (sometimes
the blood products. This procedure is done to termed an aversive stimulus).
remove toxins and antibodies as in Guillain- positive reinforcement A method of increas-
Barré syndrome. ing desired behaviors by rewarding them;
plasticity The ability of an organ or part of exists when the contingent delivery of an out-
an organ to take over the function of another come produces an increase in the likelihood
damaged organ; the ability of the nervous sys- of the behavior(s) upon which it is contingent.
tem to change or adapt. positive reinforcers Any tangible (e.g., food,
pneumocystis carinii pneumonia Lung toy) or action (e.g., hug) that is reinforcing
infection often seen in immunocompro- to an individual and will lead to a subsequent
mised individuals, such as those with acquired increase in the behavior that preceded it.
immunodeficiency syndrome (AIDS). positive support reflex (PSR) Primitive
point mutation A mutation in a single nucle- reflex present in an infant, in which the child
otide (DNA) base leading to a genetic syn- reflexively accepts weight on the feet when
drome (e.g., sickle cell disease). bounced, appearing to stand briefly.
Glossary 747
positron emission tomography (PET) preterm birth Birth prior to the 37th week of
Imaging study utilizing radioactive labeled gestation; prematurity.
chemical compounds to study the metabolism prevalence odds ratio (POR) The burden
of an organ, most commonly the brain. or status of a disease in a defined population
posterior In back of or the back part of a at a specified time, including all cases of dis-
structure. ease in the population whether they are newly
postictal Immediately following a seizure diagnosed or previously recognized.
episode. priapism Painful and long-lasting penile
postterm birth Birth after the 42nd week of erections.
gestation. primary neurulation The process by which
posttraumatic stress disorder (PTSD) Psy- the neural plate develops a midline groove the
chiatric disorder in which a previously expe- edges of which fold over, converge, and close
rienced stressful event is reexperienced psy- to form the neural tube.
chologically many times and associated with primitive reflexes Infantile reflexes that tend
anxiety and fear. to fade in the first year of life (i.e., the suck,
postural reactions Normal reflexlike pro- startle, and root) (see Chapter 26).
tective responses of an infant to changes prompts Cues (e.g., verbal, visual) that direct
in position; also called automatic movement the child to participate in a targeted activity.
reactions. prone Face down.
PPHN/PFC See persistent pulmonary prophase The initial stage in cell division
hypertension of the newborn/persistent fetal when the chromosomes thicken and shorten
circulation. to look like separate strands.
PPV See positive pressure ventilation. prophylaxis Use of a preventive agent.
pragmatics The study of language as it is proprioception Ability to sense the position,
used in a social context (e.g., conversation). location, orientation and movement of body
precocious puberty A condition in which parts.
the changes associated with puberty begin at proptosis Appearance of protruding eyes.
an unexpectedly early age. prosencephalon See forebrain. The forward-
preeclampsia Disorder of late pregnancy most bulge, gives rise to the left and right
characterized by high blood pressure with cerebral hemispheres.
swelling and/or protein in the mother’s urine, prosocial Socially acceptable.
seen especially in teenagers and women older prosody The intonation and rhythm of
than 35 years; also called toxemia of pregnancy; speech.
blood toxemia of pregnancy. proteinuria Protein in urine.
preference assessments Assessments to proximal Describing the part nearest the
identify high-preference stimuli that may be midline or trunk
potential reinforcers in a behavior manage- proxy consent Consent for treatment or
ment program. research given by a parent or guardian for a
preimplantation genetic diagnosis (PGD) child or an incompetent adult.
Refers to procedures that are performed on pseudohypertrophy Enlarged but weak mus-
embryos prior to implantation. PGD is con- cle, as found in muscular dystrophy.
sidered another approach to prenatal diagno- pseudomonas A bacterial infection that most
sis. When used to screen for a specific genetic commonly causes pneumonia in immuno-
disease, it avoids selective pregnancy termi- compromised patients.
nation as the method makes it highly likely PSR See positive support reflex.
that the baby will be free of the disease under psychoeducational Pertaining to the testing
consideration. PGD is an adjunct to assisted of intelligence, academic achievement, and
reproductive technology and requires in other types of psychological and educational
vitro fertilization (IVF) to obtain oocytes or processes.
embryos for evaluation. psychological assessment Incorporates test
premolar Teeth in the back of the mouth scores into a broadly based assessment of a
used for grinding. child’s abilities and functioning; also called
prenatal screening Noninvasive (usually psychological testing.
maternal blood) tests used to screen for psychosis A psychiatric disorder character-
genetic disorders in the fetus. ized by hallucinations, delusions, loss of con-
presbyopia A decrease in the accommodation tact with reality, and unclear thinking; adjec-
of the lens of the eye that occurs with aging. tive: psychotic.
748 Gendron
psychotherapy Nonpharmacological treat- into the spinal column and involved in the
ment for an individual with an emotional dis- control of voluntary motor movement. Dam-
order. Various types of psychotherapy range age to this tract results in spasticity, com-
from supportive counseling to psychoanalysis monly seen in cerebral palsy.
with services usually provided by a psycholo- pyridoxine Vitamin B6.
gist, psychiatrist, or social worker. quadriplegia Paralysis of all four extremities.
ptosis Droopy eyelids. quickening The first signs of life felt by the
PTSD See posttraumatic stress disorder. mother as a result of fetal movements in the
PUBS See percutaneous umbilical blood fourth or fifth month of pregnancy.
sampling. rad A measure of radioactivity.
pulmonary Pertaining to the lungs. radiograph A medical x ray.
pulmonary hypertension Increased back ratio schedules Provision of reinforcement
pressure in the pulmonary artery leading to following a set number of correct responses.
decreased oxygenation and right heart failure. real-time ultrasonography The use of
pulmonary vascular obstructive disease sound waves to provide a moving (real-time)
This leads to increased back pressure in the image used in fetal monitoring.
arteries that connect the heart to the lungs rebound A phenomenon in which as a medi-
and results in congestive heart failure. cation dose wears off, a person’s behavior or
pulmonary vascular resistance (PVR) Vaso- symptoms become worse than when com-
constriction of the pulmonary blood vessels pletely off medication.
normally high during fetal life, which should receptive aphasia Impairment of receptive
relax immediately upon birth with the first language due to a disorder of the central ner-
breaths of life. vous system (CNS).
pulmonary vasodilation Relaxation of the receptive language The cognitive process-
lung’s blood vessels soon after birth to establish ing involved in comprehending oral, sym-
lung circulation and extinguish fetal circulation. bolic, or written language.
pulp The soft tissue under the dentin layer recessive Pertaining to a trait that is expressed
in teeth containing blood vessels, lymphatics only if the child inherits two copies of the
(lymph vessels), connective tissue, and nerve gene; from the Latin word for “hidden.”
fibers. recti muscles Eye muscles that converge the
pulse oximeter A device that measures oxy- eyes towards the nose for near activities and
gen tension noninvasively. diverge the eyes for far ones.
punishment In behavior management, a red reflex The reddish-orange reflection
procedure or consequence that decreases the from the eye’s retina that is observed when
frequency of a behavior through the use of using an opthalmoscope or retinoscope.
a negative stimulus or withdrawal of a pre- refracted Bent, toward a focal point.
ferred activity/object. reframing Reinterpreting a behavior by
pupil The aperture in the center of the iris. viewing it from a different lens-frame and
purine A type of organic molecule found in focusing on the adaptive and positive aspects
RNA and DNA. rather than negative one.
purpuric Bruising indicating bleeding into reinforcer A response to a behavior that
the skin. increases the likelihood that the behavior will
purpuric skin lesions Bruising. occur in the future.
putamen A part of the lentiform nucleus that related services Services (e.g., transportation,
is lateral to the globus pallidus in the brain. occupational and physical therapy) that supple-
It is associated with the corpus striatum and ment the special education services provided
receives connections from the suppressor to a child with a developmental disability.
centers of the cortex. renal dysplasia Small, abnormal kidneys.
PVL See periventricular leukomalacia. repetitive microtrauma Small injury of lesion
PVR See pulmonary vascular resistance. that can become problematic if repetitive.
pyloric stenosis A congenital narrowing of representative payee Often required by
the opening from the stomach to the small programs and services in order to disburse
bowel. funds to an individual with developmental
pylorus The sphincter at the junction of the disabilities.
stomach and the duodenum. resonance In linguistics and speech-language
pyramidal tract A nerve tract; also called the pathology, the balance of air flow between the
corticospinal tract, leading from the cortex nose and the mouth.
Glossary 749
resonance disorders Abnormal amounts of of a long, usually single-stranded chain of

nasality, often caused by structural malforma- nucleotide units that contain the sugar ribose.
tions such as enlarged adenoids and tonsils, It is essential for protein synthesis within the
or structural anomalies such as a deviated cell.
septum. ribosome Intracellular structure involved in
respiratory technology assistance Medi- protein synthesis. It reads the genetic code
cal devices used to replace or augment a vital delivered to it by mRNA.
body function. rickets Bone disease resulting from nutri-
response to intervention (RTI) Represents tional deficiency of vitamin D.
a shift in thinking about students who have rights Moral or legal claims by one party
difficulty learning at the same rate as their against another.
peers. Students with learning difficulties are rigid Pertaining to increased tone marked by
provided supplementary instruction within stiffness.
general education, with special education ring chromosome A ring-shaped chromo-
being the final rung on the ladder of support. some formed when deletions occur at both
RTI also concerns the diagnosis of students tips of a normal chromosome with subse-
with specific learning disabilities (SLD). RTI quent fusion of the tips, forming a ring.
was introduced by the Individuals with Dis- RNA See ribonucleic acid.
abilities Education Improvement Act of 2004 rods Photoreceptor cells of the eye associated
(IDEA 2004) as an alternate and preferred with low-light vision.
method for diagnosing children with SLD. It rolandic epilepsy An inherited benign form of
is likely that when IDEA is next reauthorized, epilepsy occurring in children and character-
RTI will be the only acceptable method for ized by sudden episodes of arrested speech and
diagnosing SLD. muscular contractions of the side of the face.
retina The photosensitive nerve layer that rootlets Small branches of nerve roots.
lines the back of the eye, senses light, and ROP See retinopathy of prematurity.
creates impulses that travel through the optic rostral Anterior pole of the developing
nerve to the brain. embryo.
retinopathy Disorder of the retina. RTI See response to intervention.
retinopathy of prematurity (ROP) A disor- rubella A viral infection. Generally causes a
der involving abnormal blood vessel develop- mild elevation of temperature and skin rash
ment in the retina of the eye in a premature and resolves in a few days. However, when it
infant. It has been linked to excessive provi- occurs in a pregnant woman during the first
sion of oxygen. trimester, it can lead to intrauterine infection
retinoscope An instrument used to detect and severe birth defects; also called German
errors of refraction in the eye. measles.
retro-illumination In split-lamp examina- SAH See subarachnoid hemorrhage.
tion of the eye, it is a method of illuminating salicylates Chemicals found in many food
a structure by using the light that is reflected substances and in aspirin.
by the iris or by a lens containing a cataract. saline A salt solution.
retrospective payment system Pertaining to sarcomeres The contractile units of the mus-
a fee-for-service health care model in which cle fiber.
payment occurs after services are rendered. Sarnat neurological score The most popu-
retrovirus The class of viruses that includes lar system for grading the severity of hypoxic
human immunodeficiency virus (HIV), the ischemic encephalopathy (HIE); it ranges
causative agent of acquired immunodefi- from 1 (mild) to 3 (severe) in neonates.
ciency syndrome (AIDS). satiation Having had enough or too much of
Rh incompatibility Condition occurring when something.
an Rh+ baby is born to an Rh– mother. This saturated fatty acid A type of fatty acid in
leads to breakdown of red blood cells in the the diet that has been linked to heart disease
baby and the excessive release of bilirubin, more frequently than unsaturated fatty acids
predisposing the Rh+ baby to kernicterus. have been.
rhabdomyolysis Breakdown of muscle tissue. scala media Fluid-filled cavity within the
rhombencephalon The hindbrain region of cochlea of the ear.
the embryo. schizencephaly A severely malformed brain
ribonucleic acid (RNA) A nucleic acid that is with clefts formed because of a neuronal
an essential component of all cells, composed migrational defect during early embryogenesis.
750 Gendron
schizophrenia A psychiatric disorder with sepsis Infection that has spread throughout
characteristic psychotic symptoms (i.e., the bloodstream and can be life threatening;
prominent delusions, hallucinations, cata- also called blood poisoning.
tonic behavior, and/or flat affect). sequential modification If desired changes
Schlemm’s canal The passageway in which in behavior are not observed to occur across
the aqueous fluid leaves the eye. settings and behaviors, concrete steps are
sclera The thick, white nontransparent taken to introduce the effective intervention
fibrous covering in the eye. (e.g., positive reinforcement) to each of the
scoliosis Lateral curvature of the spine. behaviors or settings to which transfer of
screening test A test designed to screen for, effects is inadequate.
but not definitively diagnose, a particular serotonin reuptake inhibitors A group of
condition. psychoactive drugs, an example being fluox-
SDH See subdural hemorrhage. etine (Prozac) used to treat depression.
seborrheic dermatitis Dandruff. serum See plasma.
secondary Occurring as a consequence of a sex chromosomes The X and Y chromo-
primary disorder. somes that determine gender.
secondary neurulation A series of events at sex-linked trait See X-linked trait.
the lower edge of the neural tube in which SGA See small for gestational age.
the caudal eminence develops into the bot- shadowing Technique in which the instruc-
tom most segments of the spine and elements tor keeps his or her hands within an inch
of the lower intestine. of the child’s hands as the child proceeds to
second-trimester ultrasonography An ultra- complete the task.
sound conducted in the 13th–14th week to shared decision making Patient or proxy
test for Down syndrome and other congenital and physician participate together in commit-
anomalies. ting to a treatment decision.
secretin Hormone produced in the duode- SI therapy See sensory integration therapy.
num that stimulates secretion of pancreatic SIB See self-injurious behavior or aggressions.
enzymes. SIDS See sudden infant death syndrome.
seizure threshold Tolerance level of the silent stroke A stroke without any outward
brain for electrical activity. If level of toler- symptoms.
ance is exceeded, a seizure occurs. single nucleotide polymorphisms (SNPs)
selective serotonin reuptake inhibitors DNA sequence variations in the population.
(SSRIs) Commonly used medications for single photon emission computed tomogra-
treatment of depression and anxiety. They phy (SPECT) An imaging technique that
act by decreasing reuptake of serotonin from permits the study of the metabolism of a body
the synaptic cleft, resulting in more serotonin organ, most commonly the brain.
being available for neurotransmission. single-gene defect A mutation or error in a
selective vulnerability Refers to a suscepti- single gene leads to disease. Examples include
bility of specific regions and cells to injury. sickle-cell disease and phenylketonuria.
self-injurious behavior (SIB) or aggres- sleep apnea Brief periods of arrested breath-
sions The intentional, direct injuring of ing during sleep, most commonly found in
body tissue most often done without suicidal premature infants and in older children and
intentions. adults with morbid obesity.
semantics The study of and conventions sleep myoclonus Sudden jerking movements
governing meanings of words. of the body associated with various sleep
sensorineural Involving the cochlea or audi- stages that may be confused with a seizure.
tory nerve. small for gestational age (SGA) Refers to a
sensory integration (SI) therapy Ther- newborn whose weight is below the third per-
apy that uses controlled sensory stimula- centile for gestational age; prematurely born
tion combined with a meaningful adaptive infants.
response to achieve changes in learning and SNPs See single nucleotide polymorphisms.
behavior. A common method used in occu- social-negative reinforcement The removal
pational therapy. of some unwanted or aversive event contingent
separation anxiety Excessive concern about on a behavior may also result in strengthen-
separation, usually of mother from child (e.g., ing of that behavior and may take the form of
school phobia). escape or avoidance from the unwanted event.
Glossary 751
social-positive reinforcement Events or speech and language disorders Problems

stimuli that follow the occurrence of a behav- in communication and related areas such as
ior may function to strengthen that behavior. oral-motor function.
soft neurological signs A group of neuro- splenomegaly Enlarged spleen.
logical findings that are normal in young spermatocytes Sperm.
children, but when found in older children spina bifida A developmental defect of the
suggest immaturities in central nervous sys- spine, a neural tube defect; also called spinal
tem (CNS) development (i.e., difficulty per- dysraphism.
forming sequential finger–thumb opposition, spina bifida occulta Generally benign con-
rapid alternating movements). genital defect of the spinal column not asso-
soft spot See anterior fontanelle. ciated with protrusion of the spinal cord or
somatic Relating to the body. meninges; the most common neural tube
somatic nervous system (SNS) Part of the defect.
peripheral nervous system associated with spinal braces A form of low-tech assistive
the voluntary control of body movements via device to children with cerebral palsy or neu-
skeletal muscles and with sensory reception of romuscular disorder.
touch, hearing, and sight. spinal cord The thick, whitish cord of nerve
spastic Pertaining to increased muscle tone tissue that extends from the base of the brain
in which muscles are stiff and movements are down through the spinal column.
difficult; caused by damage to the pyramidal spinal dysraphism See spinal bifida.
tract in the brain. spinal muscular atrophy Congenital neu-
spastic diplegia A form of cerebral palsy romuscular disorder of childhood associated
primarily seen in former premature infants with progressive muscle weakness.
that is manifested as spasticity of both lower spinal tap See lumbar puncture.
extremities with only mild involvement of spindle In mitosis and meiosis, a weblike fig-
upper extremities. ure along which the chromosomes are dis-
spastic hemiplegia A form of cerebral palsy tributed.
in which one side of the body demonstrates spondyloepipheseal dysplasia Congenital
spasticity and the other side is unaffected. structural abnormality of vertebral column
spastic hypertonicity Increased muscle tone caused by a lack of mineralization of bone.
and a positive Babinski response, two of the spontaneous recovery In behavior man-
hallmark features of spastic cerebral palsy. agement, the recurrence of an undesirable
spastic quadriplegia A form of cerebral palsy behavior after it has been extinguished.
in which all four limbs are affected. Increased sporadic In genetics, describing a disease
muscle tone (i.e., spasticity) is caused by dam- that occurs by chance and carries little risk of
age to the pyramidal tract in the brain. recurrence.
spasticity Abnormally increased muscle tone. SSRIs See selective serotonin reuptake
speaking valve A valve that can be used by inhibitors.
children who have tracheostomy tubes to per- standardized rating scales Questionnaires
mit vocalizations. concerning specific behaviors that have been
specific language impairment A significant completed for large samples of children so
deficit in linguistic functioning that does not that norms and normal degrees of variation
appear to be accompanied by deficits in hear- are known.
ing, intelligence, or motor functioning. stapes One of the three small bones in the
specific learning disability Includes disor- middle ear, collectively called the ossicles,
ders that affect the ability to understand or that help amplify sound.
use spoken or written language; it may mani- staphylococcus aureus The bacteria resulting
fest in difficulties with listening, thinking, in Staph infections such as cellulitis.
speaking, reading, writing, spelling, and/or static encephalopathy Is characterized by
doing mathematical calculations. significantly delayed development, with the
SPECT See single photon emission com- acquisition of new skills at a slower rate than
puted tomography. is typical.
spectrum of developmental disabilities static Unchanging.
The various neurological disorders that result status epilepticus A seizure lasting more
from abnormalities in cognitive, motor, and than 30 minutes.
neurobehavioral function. stenosis An abnormal narrowing.
752 Gendron
stereotypic movement disorder Disorder supported employment Defined by the

characterized by recurring purposeless but Rehabilitation Act Amendments of 1986 (PL
voluntary movements (e.g., hand flapping in 99-506) and 1992 (PL 102-569) as employ-
children with autism); also called stereotypies. ment in an inclusive setting with ongoing
stereotypies See stereotypic movement dis- support services for an individual with a
order. disability.
steroids 1) Medications used to treat severe suppository Small solid body shaped for
inflammatory diseases and infantile spasms; ready introduction into one of the orifaces of
2) certain natural hormones in the body. the body other than the oral cavity such as the
stimulant Medication used to treat attention- rectrum, urethra, or vagina.
deficit/hyperactivity disorder (e.g., methyl- surfactant A lipoprotein normally secreted
phenidate). into the alveoli with the first breaths of life
stomach flu See gastroenteritis. that acts like a soap bubble and allows for a
strabismus Deviation of one or both eyes significant decrease in the alveolar mem-
during forward gaze; the loss of this coordi- brane’s surface tension, thus making breath-
nated movement leads to misalignment of the ing much easier and the lungs much more
eye; crossed eyes. flexible immediately after birth.
subacute progressive encephalopathy Char- surveillance The ongoing monitoring of dis-
acterized by a gradual and insidious loss of ease in the population.
previously obtained cognitive and motor surveillance devices Devices such as cardio-
milestones. respiratory monitors, and pulse oximeters.
subarachnoid Beneath the arachnoid mem- sutures In anatomy, the fibrous joints
brane, or middle layer, of the meninges. between certain bones (e.g., skull bones).
subarachnoid hemorrhage (SAH) Hemor- synapses The minute spaces separating
rhage into the fluid-filled space between the one neuron from another. Neurochemicals
arachnoid membrane and the underlying breach this gap.
brain that can compress or contuse the under- syncopal episode Fainting spell.
lying brain. syndactyly Webbed hands or feet.
subdural Resting between the outer (dural) synophrys Confluent eyebrows.
and middle (arachnoid) layers of the meninges. syntax Word order.
subdural hematoma Localized collection syphilis A sexually transmitted disease that
of clotted blood lying in the space between can cause an intrauterine infection in preg-
the dural and arachnoid membranes that sur- nant women and result in severe birth defects.
round the brain. This results from bleeding syringomas Benign sweat glad tumors.
of the cerebral blood vessels that rest between syringomyelia A chronic disease of the spinal
these two membranes. cord characterized by the presence of fluid.
subdural hemorrhage (SDH) Hemorrhage syrinx A pathological tube-shaped cavity in
between the tough outer membrane (dura) the spinal cord.
and the meninges surrounding the brain and systemic Involving the body as a whole.
spinal cord that can compress or contuse the T cell lymphocyte population White blood
underlying brain. cells responsible for recognizing and chemi-
subluxation Partial dislocation. cally encoding into immunologic memory
submucosal A supporting layer of loose con- any foreign bacterial substances.
nective tissue directly under a mucous mem- tachycardia Rapid heart rate.
brane, (i.e., below the palate). tachypnea Rapid breathing.
substrate A compound acted upon by an talipes equinovarus See clubfoot.
enzyme in a chemical reaction. tandem mass spectrometer (MS/MS) A
sucrose See glucose. machine that separates and quantifies ions
sudden infant death syndrome (SIDS) based on their mass-to-charge ratio. It is used
Diagnosis given to a previously well infant in newborn screening to detect a number of
(often a former premature baby) who is found inborn errors of metabolism.
lifeless in bed without apparent cause; also tangential migration Cells migrate parallel
called crib death. to the surface of the brain and perpendicular
sulci Furrows of the brain; singular: sulcus. to the radial glia.
superior In anatomy, above. tangibles Rewards given in positive rein-
supine Lying on the back, face upward. forcement procedures (e.g., food, toys).
Glossary 753
tardive dyskinesia A potentially severe do not appear to be under voluntary control.

movement disorder resulting from the long- time-in A behavioral procedure which dra-
term use of phenothiazines or other antipsy- matically increases pleasant social and physi-
chotic medication. cal contact between the child and caregiver.
target behaviors Behaviors selected for time-out A procedure whereby the possibil-
assessment and management. ity of positive reinforcement is withdrawn for
tartar See calculus. a brief amount of time following the occur-
TCD See transcranial Doppler. rence of a targeted challenging behavior.
telangiectasia Abnormal cluster of small TLR See tonic labyrinthine reflex.
blood vessels. tocolysis Use of medications to stop pre-
telehealth Electronic and video-based com- term labor.
munication. Todd’s paralysis Reversible weakness of one
teletypewriter (TTY) An electronic device side of the body following a seizure.
for text communication via a telephone line tonic labyrinthine reflex (TLR) Primitive
used when one or more of the parties has reflex in which the infant retracts the arms
hearing or speech difficulties. and extends the legs when the neck is tilted
telophase The final phase in cell division in backwards, stimulating the labyrinth; also
which the daughter chromosomes are at the called tonic labyrinthine response.
opposite poles of the cell and new nuclear tonic-clonic Spasmodic alteration of muscle
membranes form. contraction and relaxation.
temporal lobe Brain region involved in visual tonotopically Arranged spatially by tone as
and auditory processing. The area of the cor- found in the cochlea of the inner ear.
tex primarily involved in communication and tooth bud See dental organ.
sensation. torticollis Wry neck in which the neck is
tendons Fibrous cords by which muscles are painfully tilted to one side; a form of dystonia.
attached to bone or to one another. toxemia See preeclampsia.
teratogens Agents that can cause malforma- toxoplasma gondii Microorganism causing
tions in a developing embryo. toxoplasmosis.
testosterone Male sex hormone. toxoplasmosis An infectious disease caused
tethered Tied down. by a microorganism, which may be asymp-
tetraploid Having four copies of each chro- tomatic in adults but can lead to severe fetal
mosome (i.e., 92 chromosomes). This is malformations.
incompatible with life. trachea Windpipe.
thalamus Region of the brain situated in the tracheal intubation Introducing a tube into
posterior part of the forebrain that relays sen- the airway to facilitate breathing.
sory impulses to the cerebral cortex. tracheoesophageal fistula A congenital con-
thickening agents Can transform any thin nection between the trachea and esophagus
liquid into a nectar, honey, or milkshake-like leading to aspiration of food and requiring
consistency. surgical correction.
thimerosal A mercury-containing organic tracheomalacia Softening of the cartilage of
compound that was used as a preservative in the trachea.
vaccines. tracheostomy The surgical creation of an
thoracolumbar kyphosis Curvature of the opening into the trachea to permit insertion
mid-lower spine in the front to back plane. of a tube to facilitate mechanical ventilation.
thrombocytopenia Low platelet count. tracheostomy tube A catheter that is inserted
thrombophilia A genetic tendency for one’s into the trachea for the purpose of supplying
blood to clot more than normal. air to a blocked airway.
thrush Monilial (fungal) yeast infection of trachoma A bacterial infection causing blind-
the oral cavity sometimes seen in infants. ness in developing countries.
thymine One of the four nucleotides (chemi- transcranial Doppler (TCD) An instrument
cals) that comprise DNA. that emits ultrasonic beams to diagnose vas-
thymus A gland in the chest which plays a key cular disease in the head.
role in regulating immune responses. transcription The process in which mRNA is
thyrotoxicosis A form of hyperthyroidism formed from a DNA template.
leading to severe symptoms. transition individualized education program
tics Brief repetitive movements or vocaliza- (transition IEP) A written plan for an ado-
tions that occur in a stereotyped manner and lescent receiving special education services
754 Gendron
that maps out his or her postschool educa- undernutrition Inadequate nutrition to sus-
tion, services, and employment and adult liv- tain normal growth.
ing goals. It is required by federal law (IDEA, uniparental disomy See genomic imprinting.
2004) to be part of the student’s individual- unsaturated fatty acid A type of dietary fat,
ized education program (IEP) starting at age certain kinds of which have been linked to
16; previously called individualized transition heart disease.
plan (ITP). upper esophageal sphincter (UES) A mus-
transitional (fetal) circulation Circulatory cle at the entrance to the esophagus.
changes occurring at birth in the lungs and urea End product of protein metabolism.
around the heart, resulting from pulmonary uremia The abnormal accumulation of uri-
vasodilation and closure of the ductus arte- nary waste products in the blood present in
riosus and the foramen ovale (the two fetal renal (kidney) failure.
bypasses around the lungs during fetal life). ureterostomy Surgical procedure creating
translation A process where the mRNA an outlet for the ureters through the abdomi-
moves out of the nucleus into the cytoplasm, nal wall.
where it provides instructions for the produc- urethra Canal through which urine passes
tion of a protein. from the bladder.
translocation The transfer of a fragment of urodynamics A test that accesses how the
one chromosome to another chromosome. bladder and urethra are performing their job
tremor A trembling motion. of storing and releasing urine.
treponema pallium Microorganism causing valgus Condition in which the distal body
syphilis. part is angled away from the mid-line.
trichotillomania Hair-pulling disorder. varicella The virus that causes chickenpox
triplet repeat expansion Abnormal number and shingles.
of copies of identical triplet nucleotides (as varus Condition in which the distal body part
occurs in fragile X syndrome; see Chapter 1). is angled toward the mid-line.
triploid Having three copies of each chromo- vasoconstriction A decrease in the diameter
some (i.e., 69 chromosomes), which is gener- of blood vessels.
ally incompatible with life. vasodilation Relaxation and dilation of blood
trisomy A condition is which there are three vessels.
copies of one chromosome rather than two vaso-occlusive episode In sickle-cell dis-
(e.g., trisomy 21, Down syndrome). ease, the sudden restriction of blood flow due
trochlear nerve The fourth cranial nerve to sickle shaped cells blocking capillaries.
controls the superior oblique eye muscle. ventilator A machine that provides a mixture
trophoblast The outermost layer of cells that of air and oxygen to an individual in respira-
attaches the fertilized egg to the uterine wall. tory failure.
TTY See teletypewriter. ventral Front.
tubers Benign growths found in the brain of ventral induction Describes development of
an individual with tuberous sclerosis. the prosencephalon, its division into two sec-
twinning The production of twins. tions, the telencephalon and diencephalon,
tympanometry The measurement of flexibil- and cleavage of the telencephalon into two
ity of the tympanic membrane as an indica- cerebral hemispheres.
tor of a middle-ear infection or fluid in the ventricles Fluid filled cavities, especially in
middle ear. the heart or brain.
tympanostomy A small tube inserted through ventricular septal defect A congenital heart
the tympanic membrane after myringotomy defect in which the wall separating the two
to aerate the middle ear; often used in the lower chambers of the heart does not close
treatment of recurrent or persistent otitis during embryonic development.
media (middle ear infection). ventricular system Interconnecting cavities
tyrosine An amino acid. of the brain containing cerebrospinal fluid.
UES See upper esophageal sphincter. ventriculoperitoneal shunt (VP shunt)
umbilical cord prolapse The umbilical cord Tube connecting a cerebral ventricle with the
being born before rather than after the baby, abdominal cavity; used to treat hydrocephalus
thereby becoming compressed by the fetus by draining cerebrospinal fluid into the child’s
during the delivery process and interfering abdominal cavity.
with oxygen flow to the fetus during labor; ventriculo-subgaleal shunt Implanted as
typically occurs with polyhydramnios. a temporary measure for treatment of
Glossary 755
hydrocephalus, draining cerebrospinal fluid does not see objects as clearly as usual, or a
from the ventricles to the scalp. loss of visual field, where the eye cannot see as
vertebral arches The bony arches projecting wide an area as usual without moving the eyes
from the body of the vertebra. or turning the head.
vertex presentation Downward position of vitiligo A skin disease marked by patches of
infant’s head during vaginal delivery. lack of pigment.
vertical transmission Mother to child trans- vitreous humor The gelatinous content of
mission of infection, especially in HIV. the eye located between the lens and retina.
very low birth weight (VLBW) Term often VLBW See very low birth weight.
used to describe an infant with a birth weight volunteering An opportunity for adoles-
less than 1,500 grams (3¹/³ pounds). cents to gain valuable insight into the world
vesicles Small bladder-like cavities contain- of work, to develop skills, and to build work-
ing specific chemicals (neurotransmitters) related experience.
that are released from the axon of a neuron. VP shunt See ventriculoperitoneal shunt.
vesicostomy The surgical creation of an watershed area Area of tissue lying between
opening for the bladder to empty its contents two major arteries and thus poorly supplied
through the abdominal wall. by blood.
vestibular system Three ring-shaped bod- watershed infarct Injury to brain due to lack
ies located in the labyrinth of the ear that are of blood flow in the brain tissues between
involved in maintenance of balance and sen- interfacing blood vessels.
sation of the body’s movement through space. work-study employment Part-time work
villi Vascular projections, such as those com- for students sanctioned by the school either
ing from the embryo that become part of the on or off campus.
placenta; singular: villus. xerosis Dryness of eyes.
visceral Relating to the soft internal organs xerostomia Dry mouth.
of the body, especially those contained within X-linked trait A trait transmitted by a gene
the abdominal and thoracic cavities. located on the X chromosome; previously
vision impairment A condition character- called sex-linked.
ized by a loss of visual acuity, where the eye zygote Fertilized egg.
B Syndromes and
Inborn Errors
of Metabolism
Kara L. Simpson
The underlying cause of a developmental dis- factor). Genetic syndromes affect multiple
ability can be explained in some children by a organ systems because the genetic defect is usu-
single genetic or teratogenic mechanism. An ally contained in every cell of the body. This
understanding of the etiology can shed light on abnormality may interfere with typical develop-
the reason for clinical features such as physi- ment or cause abnormal differentiation of more
cal malformations, cognitive impairments, and than one tissue of the body. Most genetic and
behavior problems. Making a diagnosis in such teratogenic syndromes are of prenatal onset
cases may be important for physicians to imple- and are evident at birth, usually because of an
ment appropriate medical management or to unusual appearance (i.e., dysmorphic features)
provide genetic or prenatal counseling. Other or multiple congenital abnormalities. Syn-
professionals may also find that a diagnosis dromes are usually stable conditions, and neu-
assists them in the development of more global rological regression is uncommon. A sequence is
aspects of the child’s care, including educational, a situation where a single event leads to a single
physical, occupational, and speech-language anomaly which has a cascading effect of local
therapy. The direct benefit to families includes and/or distant deformations and/or disrup-
the ability to gather information specific to tions. An association is a nonrandom occurrence
their child’s condition and to seek out support of anomalies with no consistent etiology.
from other parents and/or affected individuals Unlike most syndromes, inborn errors of
through support groups, conferences, and the metabolism are usually not evident at birth. Dur-
Internet. Finally, attaining a specific diagnosis ing pregnancy, the mother’s normal metabolism
can lead patients, families, and health-care pro- usually protects the fetus. After delivery, how-
fessionals to the appropriate disease-oriented ever, there may be an accumulation of toxic
organization, which is often a great source of metabolites as a result of an enzyme deficiency.
information and support (not just medical, but The presentation of inborn errors varies from
emotional and sometimes financial as well). For metabolic crisis and death within days of birth
all of these reasons, the search for an etiology of to occasional episodes in response to external
a child’s developmental disability may focus on factors later in childhood. Some metabolic dis-
syndrome identification. orders are treatable, and many in this category
By definition, a syndrome is a recurring, of genetic conditions are detectable with new-
recognizable pattern of structural defects and/ born screening through biochemical or molec-
or secondary effects that represents a single ular testing (see Chapters 5 and 19). Others,
etiology. Syndromes may have a genetic basis despite early diagnosis and treatment, still lead
(chromosomal, single gene defects; see Chap- to irreversible effects.
ter 1), can be environmental (teratogens; see Although the clinical features associated
Chapter 3), or can be complex (caused by with certain syndromes and inborn errors of
more than one genetic and/or environmental metabolism have been known for centuries
757
758 Simpson
(e.g., Down syndrome, congenital hypothy- Insight into an individual’s specific condition,
roidism), the chromosomal and molecular the behavioral phenotype, cognitive abilities,
basis of the disorders have only been character- and learning strengths and weakness can be of
ized since the 1960s. An increasing number of particular importance in the classroom. Refer-
genetic and biochemical tests can now be uti- ences addressing the cognitive and behavioral
lized to confirm a clinically suspected diagnosis. abilities of individuals with specific genetic con-
This is of particular importance because dif- ditions are included in this appendix.
ferent therapeutic options (or the opportunity Many excellent resources concern-
to participate in clinical research trials) may be ing genetic conditions exist for families and
available to individuals on the basis of a genetic health care professionals caring for children
diagnosis, particularly in the cases of molecu- with disabilities. Some useful ones include
larly based therapies. In addition, a genetic the following
diagnosis allows for accurate recurrence risk • The Genetic Alliance is a nonprofit orga-
estimates and appropriate genetic counseling nization with a directory of support groups,
for other family members. foundations, research organizations, patient
Diagnostic testing in patients with devel- advocacy groups, and tissue registries. The
opmental delay, intellectual disability, con- Genetic Alliance is based in Washington,
genital anomalies, and dysmorphic features has D.C. (202-966-5557; http://www.genetic
evolved significantly in the last several years alliance.org; e-mail: info@geneticalliance.
with the addition of the popular cytogenetic org).
microarrays based on comparative genomic
• GeneTests (http://ncbi.nlm.nih.gov/sites/
hybridization (CGH) and single nucleotide
GeneTests) GeneTests is administered by
polymorphism (SNP) array analyses. With the
the University of Washington and funded by
array CGH, copy number variants (CNVs) are
the National Institutes of Health (NIH), the
determined by comparing the hybridization
Health Resources and Services Administra-
pattern intensities between a patient’s DNA and
tion (HRSA), and the U.S. Department of
control DNA. Microarrays are generally lim-
Energy (DOE). GeneTests has a directory of
ited by the length and spacing between probes
clinics and laboratories that provide genetic
but this resolution has continued to increase,
testing. In addition, some educational tools
allowing for the identification of chromosomal
for professionals are available. Also within
imbalances with greater precision and accuracy.
GeneTests is GeneReviews, which provides
The appeal of microarrays is especially great in
peer-reviewed articles on genetic condi-
those patients with no clear syndrome pattern.
tions that include information on diagno-
However, it should be noted that microarray
sis, management, and genetic counseling of
reports are frequently not straightforward and
individuals with specific inherited disorders
often contain changes of unknown significance.
and their families. It also provides relevant
It is recommended that the ordering of micro-
resources specific to each disease.
arrays be done by geneticists as they have the
appropriate resources to explain the results and • The National Organization for Rare
consequences to patients. (See Manning, M., Disorders (NORD; 203-744-0100; toll
& Hudgins, L. [2010]. Array-based technology free: 800-999-6673 [voicemail only]; http://
and recommendations for utilization in medical www.rarediseases.org) is a nonprofit patient
genetics practice for detection of chromosomal advocacy organization dedicated to orphan
abnormalities. Genetics in Medicine, 12(11), 742– diseases (disorders occurring in less than
745.) 200,000 individuals in the United States).
Research on the cognitive abilities of indi- NORD provides information about dis-
viduals with genetic syndromes is uncover- eases, referrals to patient organizations,
ing specific learning and behavior patterns for research grants and fellowships, advocacy
many syndromes. These are called behavioral for the rare-disease community, and medi-
phenotypes, and they can be used to establish cation assistance programs.
rational and attainable educational goals to • The Online Mendelian Inheritance in
promote a child reaching his or her full cogni- Man (OMIM; http://www.ncbi.nlm.nih.
tive and functional potential. (Behavioral phe- gov/omim) catalog describes all known
notypes in neurogenetic syndromes. [2010]. Mendelian disorders and over 12,000 genes,
American Journal of Medical Genetics Part C: providing clinical, biochemical, genetic, and
Seminars in Medical Genetics, 154C(4), 387–485). therapeutic information. OMIM is authored
Syndromes and Inborn Errors of Metabolism 759
and edited at the McKusick-Nathans Insti- dominant (AD), X-linked recessive (XLR),
tute of Genetic Medicine, Johns Hopkins X-linked dominant (XLD), mitochondrial (M),
University School of Medicine. new mutation (NM; i.e., diseases caused by new
• The National Coalition for Health Pro- mutations that arise in the sperm or the egg),
fessionals Education in Genetics (NCH- or sporadic (SP; i.e., noninherited). Each syn-
PEG; http://www.nchpeg.org) is committed drome has been assigned to a disease category
to a national effort to promote health pro- which is defined next. Although this appendix
fessional education and access to informa- lists a number of the more commonly recog-
tion about advances in human genetics. The nized syndromes associated with developmental
NCHPEG web site offers targeted web- disabilities, it is not intended to be all inclusive.
based educational programs for a variety of Specific medical terminology is defined in the
professionals including dieticians and nutri- Glossary (see Appendix A).
tionists, physician assistants, genetic coun-
selors, speech-language pathologists and Disease Categories
audiologists, and dentists. They also have
tools to aid in family history-taking and gen- auditory disorders Diseases that affect
eral core competencies in genetics. hearing.
chromosome abnormality Disorder due to a
• The Genetics Home Reference, spon-
duplication, loss, or rearrangement of chro-
sored by the U.S. National Library of
mosomal material.
Medicine (http://ghr.nlm.nih.gov/), is an
chromosome breakage syndrome Syn-
excellent resource for health care profes-
dromes associated with increased rates of
sionals, teachers, and families, provid-
chromosomal breakage or instability due
ing basic information about genetics and
to defects in DNA repair mechanisms or
searchable disease-specific data.
genomic instability which leads to chromo-
somal rearrangements.
How Entries Are Organized connective tissue disorders Disorders that
affect the connective tissue, the tissue that
This appendix lists a number of syndromes and helps support, binds together, and protects
inborn errors of metabolism that are often asso- organs.
ciated with developmental disabilities. Included contiguous gene defect A disorder due to
in each listing are the disease category, princi- deletion of multiple genes that are adjacent
pal characteristics, pattern of inheritance, fre- to one another.
quency of occurrence (prevalence or incidence), endocrine disorder Disorders affecting
treatment options when available, and recent the endocrine systems glands and secretions
references that further define the syndrome. (hormones).
Cognitive and behavioral changes are noted inborn error of metabolism Genetic disor-
for disorders in which common developmental ders that disrupt metabolism. Most are due to
abnormalities are widely accepted as being part defects of single genes that code for enzymes
of the syndrome or inborn error. When known, that break down substrates. Each inborn error
the causative gene or chromosome location is of metabolism has been categorized based on
listed. In describing the chromosomal location, the main type of metabolism affected (e.g.,
the first number or letter indicates the chro- carbohydrate, amino acid, organic acid, lyso-
mosome on which there is a genetic change somal storage disease, copper).
(mutation), and the subsequent letter (p or q) imprinting defect Group of disorders where
indicates the short or long arm of the chromo- there is a defect in the process of genomic
some, respectively. The term ter is used when imprinting (where certain alleles are expressed
the site is at the terminal end of one arm of the based on the parent of origin).
chromosome, and cen is used when the site is malformation Birth defect that results from
near the centromere. The numbers following intrinsic defects in genes that control devel-
the p or q specify the location on the chromo- opment.
some. For example, Aarskog-Scott syndrome multiple congenital anomalies Structural
is located on the short arm of the X chromo- defects that are present at birth and affect
some at position 11.21, designated as Xp11.21. multiple structures and organs.
The inheritance patterns of genetic traits are neurological disorders Disorders mainly
listed as autosomal recessive (AR), autosomal affecting the brain, spinal cord, and nerves.
760 Simpson
neuromuscular disease Diseases that affect including frontal bossing and midface hypo-
the muscles and/or the nerves that control plasia, genu varum (bow legs), and trident
them. appearance of the hands. Hypotonia and
ophthalmalogic disorders Diseases that motor delay is common. Cognitive devel-
affect the eye. opment and life span are usually normal,
overgrowth syndromes Disorders in which although cervical spinal cord compression
there is an abnormal increase in the size of the and upper airway obstruction increases risk
body or of a specific body part. of death in infancy. Children with achondro-
peroxisomal disorders A group of disorders plasia should be monitored for changes in
caused by a deficiency in enzymes within the their neurological status, particularly if there
peroxisome (an organelle involved in metabo- are concerns about delayed motor develop-
lism of very long chain fatty acids, biosynthe- ment. Prevalence: Varied reports of 1:15,000
sis of plasmalogens, and energy metabolism), to 1:25,000 live births. Cause: 98% of affected
or proteins encoded by genes for normal per- individuals have a common point mutation in
oxisome assembly. the gene coding for fibroblast growth factor
skeletal dysplasia A group of disorders receptor 3 (FGFR3). Inheritance: AD although
characterized by abnormalities of bone and 80% of cases are caused by NM.
cartilage. References: Horton, W.A., Hall, J.G., &
Hecht, J.T. (2007). Achondroplasia. Lancet,
370, 162–172.
SYNDROMES AND DISORDERS
Trotter, T.L., & Hall, J.G. (2005). Health
Aarskog-Scott syndrome (facio-digito-genital supervision for children with achondropla-
dysplasia) Disease category: Multiple congen- sia. Pediatrics, 116, 771–783.
ital anomalies. Clinical features: Short stature, Wynn, J., King, T.M., Gambello, M.J.,
brachydactyly (short fingers and toes), widow’s Waller, D.K., & Hecht, J.T. (2007). Mor-
peak, broad nasal bridge with small nose, tality in achondroplasia study: A 42-year
hypertelorism, shawl scrotum, cryptorchidism follow-up. American Journal of Medical
(undescended testes); learning disabilities and Genetics Part A, 143A, 2502–2511.
behavioral problems are present in a subset acrocephalosyndactyly, type I See Apert
of patients. Associated complications: Ptosis, eye syndrome.
movement problems, strabismus, orthodontic acrocephalosyndactyly, type II See Carpen-
problems, occasional cleft lip/ palate. Cause: ter syndrome.
Mutations in the FGD1 gene at Xp11.21. acrocephalosyndactyly, type V See Pfeiffer
Inheritance: XLR with partial expression in syndrome.
some females. Prevalence: Unknown, pheno- acrofacial dysostosis (Nager syndrome)
typic overlap with other conditions. Disease category: Multiple congenital anoma-
References: Kaname, T., Yanagi, K., Okamoto, lies. Clinical features: Micrognathia (small
N., & Naritomi, K (2006). Neurobehav- jaw), malar hypoplasia (underdeveloped
ioral disorders in patients with Aarskog- cheeks), downward slant of eyelids, high nasal
Scott syndrome with novel FGD1 muta- bridge, external ear defects, occasional cleft
tions. American Journal of Medical Genetics lip/palate, asymmetric limb anomalies (hypo-
Part A, 140(12), 1331–1332. plastic thumb or radius [a bone in the lower
Orrico, A., Faivre L., Clayton-Smith, J., arm]). Associated complications: Scoliosis, severe
Azzarello-Burri, S.M., Hertz J.M ... Jac- conductive hearing loss, occasional heart or
quemont, S. (2010). Aarskog–Scott syn- kidney defects, intellectual disability pres-
drome: Clinical update and report of nine ent in 16%. Cause: Current candidate gene is
novel mutations of the FGD1 gene. Ameri- ZFP37 linked to chromosome 9q32. Inheri-
can Journal of Medical Genetics Part A, 152A, tance: Most cases NM with evidence of AD
313–318. inheritance, rare reports of AR. Prevalence:
Taub, M., & Stanton, A. (2008). Aarskog syn- Rare.
drome: A case report and literature review. References: Dreyer, S.D., Zhou, L, Machado,
Optometry, 79(7), 371–377. M.A., Horton, W.A., Zabel, B., Winter-
achondroplasia Disease category: Skeletal dys- pacht, A., & Lee, B. (1998). Cloning, char-
plasia. Clinical features: The most common acterization, and chromosomal assignment
form of short stature, associated with rhizo- of the human ortholog of murine Zfp-37, a
melic (proximal) shortening of the arms and candidate gene for Nager syndrome. Mam-
legs, large head with typical facial features malian Genome, 9, 458–462.
Hunt, J.A., & Hobar, P.C. (2002). Common modifications including “Lorenzo’s oil” (oleic
craniofacial anomalies: The facial dysosto- acid and erucic acid) have been shown to lower
ses. Plastic and Reconstructive Surgery, 110, VLCFA levels but clinical effects are still under
1714–1726. investigation.
Herrman, B., Karzon, R., & Molter, D.W. References: Berger, J., Pujol, A., Aubourg, P., &
(2005). Otologic and audiologic features Forss-Petter, S. (2010). Current and future
of Nager acrofacial dysostosis. International pharmacological treatment strategies in
Journal of Pediatric Otorhinolaryngology, 69, x-linked adrenoleukodystrophy.
1053–1059. Cartier, N., & Aubourg, P. (2010). Hemato-
McDonald, J.T., & Gorski, J.L. (1993). Nager poietic stem cell transplantation and hema-
acrofacial dysostosis. Journal of Medical topoietic stem cell gene therapy in X-linked
Genetics, 30, 779–782. adrenoleukodystrophy. Brain Pathology,
adrenoleukodystrophy (X-linked ALD) 20(4), 857–62.
Disease category: Neuromuscular disease. (For Ferrer, I., Aubourg, P., & Pujol, A. (2010).
neonatal form, see adrenoleukodystrophy, General aspects and neuropathology of
neonatal form.) Clinical features: Progressive x-linked adrenoleukodystrophy. Brain
neurological disorder of white matter result- Pathology, 20(4), 817–830.
ing from accumulation of very long chain Kaga, M., Furushima, W., Inagaki, M., &
fatty acids; three main phenotypes are seen in Nakamura, M. (2009). Early neuropsycho-
affected males. Those with the childhood cere- logical signs of childhood adrenoleukodys-
bral form develop normally until between the trophy (ALD). Brain & Development, 31,
ages of 4 and 8. Symptoms initially resemble 558–561.
attention deficit disorder or hyperactivity. adrenoleukodystrophy, neonatal form (NALD)
Impairment of cognition, behavior, vision, Disease category: Peroxisomal disorder (For
hearing, and motor function develop follow- childhood form, see adrenoleukodystrophy
ing initial symptoms and lead to total disability [X-linked ALD].) Clinical features: A disorder
within 2 years. A second phenotype called adre- of peroxisome biogenesis and an intermediate
nomyeloneuropathy (AMN) manifests most presentation of the Zellweger syndrome spec-
commonly in the late twenties as progressive trum. Peroxisomes are minute organelles in
paraparesis (paralysis), sphincter disturbances, certain cells that are involved in the processing
sexual dysfunction, and often, impaired adre- of long chain fatty acids. NALD can present
nocortical function. The third phenotype is in the neonatal period but generally manifests
known as “Addison disease only” and pres- later in childhood because of developmental
ents with primary adrenocortical insufficiency delays, hearing loss, or visual impairment. The
between age 2 and adulthood without evidence condition is slowly progressive, and hearing
of neurologic abnormality (but can develop and vision worsen with time. Some individu-
later). Associated complications: Progressive als may develop progressive degeneration of
intellectual deterioration, seizures, endocrine myelin, a leukodystrophy, which may lead to
abnormalities, conductive hearing loss. Cause: loss of previously acquired skills and eventu-
Mutations in ABCD1 gene at Xq28. The ALD ally death. Associated complications: Intellectual
protein product is localized to the peroxisomal disability, cataracts, visual and auditory impair-
membrane. Inheritance: XLR, with intrafamil- ment, liver dysfunction, hypotonia, and hem-
ial variability ranging from classical childhood- orrhage/intracranial bleeding. Cause: Muta-
onset ALD to adult-onset ALD to Addison tions in twelve different PEX genes resulting
disease. 93% of affected individuals inherit the in absence of peroxisomes have been identi-
ABCD1 mutation from one parent; 7% from fied. Inheritance: AR. Prevalence: 1 in 50,000
NM. Approximately 20% of females who are with variation among populations.
carriers develop neurologic manifestations References: Ebberink, M., Kofster, J., Wan-
that resemble AMN but have later onset and ders, R.J., & Waterham, H.R. (2010). Spec-
milder disease than affected males. Prevalence: trum of PWX6 mutations in Zellweger syn-
1:20,000–1:50,000. Treatment: Corticosteroid drome spectrum patients. Human Mutation,
replacement therapy for adrenal insufficiency 31, E1058–E1070.
(will not alter neurologic symptoms). Bone Wanders, R.J.A., & Waterham, H.R. (2005).
marrow transplant can provide long-term Peroxisomal disorders I: Biochemistry and
stability and may reverse some neurologic genetics of peroxisome biogenesis disor-
complications in the early stages. Dietary ders. Clinical Genetics, 67(2), 107–133.
762 Simpson
Aicardi syndrome Disease category: Neu- References: Crow, Y., & Rehwinkel, J. (2009).
rologic. Clinical features: Infantile spasms, Aicardi-Goutieres syndrome and related
agenesis (absence) of the corpus callosum, phenotypes: Linking nucleic acid metabo-
and abnormalities of eyes (specifically cho- lism with autoimmunity. Human Molecular
rioretinal lacunae. Associated complications: Genetics, (R2), R130–6.
Poorly controlled seizures, visual impair- Goutieres, F. (2005). Aicardi-Goutieres syn-
ment, cortical malformations, vertebral and drome. Brain and Development, 27, 201–206.
rib abnormalities, vascular malformations Rice, G., Patrick, T., Parmar, R., Tay-
or malignancy, micropthalmia, hypotonia, lor, C.F., Aeby, A., Aicardi, J...Crow, Y.J.
microcephaly, moderate to severe intellec- (2007). Clinical and molecular phenotype
tual disability. Survival varies, but mean age of Aicardi-Goutieres syndrome. American
of death is about 8.3 years and median age Journal of Human Genetics, 81(4), 713–725.
of death is about 18.5 years. Cause: No gene alcohol-related neurodevelopmental defects
or candidate region on the X chromosome (ARND) Previously called fetal alcohol
has been definitively identified. Inheritance: effects (FAE); see Chapter 3.
XLD/NM; previously it has been assumed Alexander disease Disease category: Neu-
that mutations are lethal in males as Aicardi rologic. Clinical features: Progressive corti-
syndrome has been seen almost exclusively cal white matter neurological disorder that
in females or 47, XXY Klinefelter males. mostly affects infants and children and results
More recently there have been rare reports in early death. General characteristics of the
of 46, XY male patients. Prevalence: Between disease include seizures, intellectual disabil-
1:105,000 and 1:167,000 in the United States. ity, white matter abnormalities, and megalen-
References: Aicardi, J. (2005). Aicardi syn- cephaly. The neonatal form usually ends in
drome. Brain and Development, 27, 164–171. death within 2 years. The infantile form pres-
Anderson, S., Menten, B., Kogelenberg, M., ents by age 2, and affected children survive
Robertson, S., Waginger, M., Mentzel, H.J. up to several years. The juvenile form pres-
... Willems, P. (2009). Aicardi syndrome in a ents between ages 4 and 10 (and occasionally
male patient. Neuropediatrics, 40(1), 39–42. in the teens) and affected individuals survive
Aicardi-Goutières syndrome (AGS) Disease until early teens to mid 20s and 30s. An adult
category: Neurologic. Clinical features: Early form has been described although with vari-
onset encephalopathy whose clinical features able presentation. Associated complications:
mimic those of acquired in utero viral infec- Hydrocephalus, demyelination, progressive
tion. Normal pregnancy, delivery, and neo- spasticity, visual impairment; bulbar signs are
natal period in 80% of those affected. 20% present in some patients. Cause: Mutations
present with brain calcifications in utero and in the GFAP gene are known to be causative,
present at birth with abnormal neurologic (coding for glial fibrillary acidic protein at
findings, hepatosplenomegaly, elevated liver 17q21). Inheritance: Majority of cases caused
enzymes, and thrombocytopenia. The rest by a NM with AD inheritance when passed
of affected infants present at variable times, from an affected individual; rare AD families
and it is usually after a period of normal have been reported. Prevalence: Rare.
development. They present with subacute References: Balbi P., Salvini, S., Fundarò, C.,
onset of severe encephalopathy characterized Frazzitta, G., Maestri, R., Mosah, D...
by extreme irritability, intermittent sterile Sechi, G (2010). The clinical spectrum of
pyrexias, loss of skills, and slowing of head late-onset Alexander disease: A system-
growth. Associated complications: Peripheral atic literature review. Journal of Neurology,
spasticity, dystonic posturing of upper limbs, 257(12), 1955–1962.
truncal hypotonia, poor head control, and Messing, A., Daniels, C.M., & Hagemann,
seizures. Almost all affected individuals have T.L. (2010). Strategies for treatment in
severe intellectual and physical impairment. Alexander disease. Neurotherapeutics, 7,
Cause: Four causative genes have been found. 507–515.
A three prime repair exonuclease gene called Rong, L., Johnson, A.B., & Salomons, G.
TREX1 (3p21.3-p21.2), and 3 different ribo- (2005). Glial fibrillary acidic protein muta-
nuclease H2 subunits: RNASEH2B (13q14.1), tions in infantile, juvenile, and adult forms
RNASEH2C (11q13.2), and RNASEH2A of Alexander disease. Annals of Neurology,
(19p13.13). Inheritance: Majority of cases are 57, 310–326.
AR although there are AD/NM mutations in Sawaishi, Y. (2009). Review of Alexander
TREX1. Prevalence: Unknown. disease: Beyond the classical concept of
leukodystrophy. Brain and Development, 31, an affected individual. Incidence: 1:100,000.

493–498. Treatment: Early neurosurgical correction of
Angelman syndrome Disease category: Imprint- fused sutures improves appearance and may
ing defect/multiple congenital defect/con- reduce risk of intellectual disability; plastic/
tiguous gene defect. Clinical features: Severe orthopedic surgery for limb anomalies.
developmental delay or intellectual disability, References: Carinci, F., Pezzetti, F., Locci, P.,
severe speech impairment, gait ataxia, and Becchetti, E., Carls, F., Avantaggiato, A. ...
unique behavior with an inappropriate happy Bodo, M. (2005). Apert and crouzon syn-
demeanor that includes frequent laughing, dromes: Clinical findings, genes and extra-
smiling, and excitability. Associated compli- cellular matrix. The Journal of Craniofacial
cations: Seizures, microcephaly. Behavioral Surgery, 16(3), 361–368.
features include hyperactivity, short atten- Kreiborg, S., & Cohen, M. (2010). Ocular
tion span, hand flapping, feeding problems, manifestations of Apert and Crouzon syn-
chewing/mouthing behaviors, fascination dromes: qualitative and quantitative find-
with water, abnormal food-related behav- ings. The Journal of Craniofacial Surgery,
iors. Cause: Deletion of 15q11–q13 on the 21(5), 1354–1357.
maternally inherited chromosome, paternal ARND Alcohol-related neurodevelopmental
inheritance of both copies of chromosome 15 disorder; see Chapter 3.
(uniparental disomy, or UPD), a point muta- arthrogryposis multiplex congenital Disease
tion in the maternal copy of the UBE3A gene category: Neuromuscular disease. Clinical fea-
or an imprinting defect (due to deletion or tures: Nonprogressive joint contractures that
epigenetic effect). Inheritance: All three causes begin prenatally; flexion contractures at the
arise as a result of NM; mutations in the fingers, knees, and elbows, with muscle weak-
UBE3A gene may be passed in an AD fashion. ness around involved joints. Associated com-
Prevalence: 1:10,000–1:20,000. plications: Occasional kidney and eye anoma-
References: Pelc, K., Cheron, G., & Dan, B. lies, cleft palate, defects of abdominal wall,
(2008). Behavior and neuropsychiatric scoliosis. Cause: Multiple; most frequently
manifestations in Angelman syndrome. related to an underlying neuropathy, myopa-
Neuropsychiatric Disease and Treatment, 4(3), thy (muscle weakness), or in utero crowding;
577–584. may be associated with maternal myasthenia
Van Buggenhout, G., & Fryns, J.P. (2009). gravis; nerve conduction studies/electromy-
European Journal of Human Genetics, 17, ography (EMG) and muscle biopsy may be
1367–1373. beneficial in determining the basis of the con-
Williams, C.A. (2010). The behavioral phe- dition (myopathic versus neurogenic). Intel-
notype of the Angelman syndrome. Ameri- ligence is usually normal. Inheritance: Usually
can Journal of Medical Genetics Part C: Semi- SP and may be caused by teratogenic expo-
nars in Medical Genetics, 154C, 432–437. sure; however both AD or AR inheritance
Apert syndrome (acrocephalosyndactyly, type also have been reported. Incidence: Ranges
I) Disease category: Craniosynostosis. Clini- from 1:3,000– 1:12,000. Treatment: Casting
cal features: (Craniosynostosis) premature of affected joints or surgery, if indicated.
fusion of the cranial sutures with misshapen References: Fassier, A., Wicart, P., Dubousset,
head (turribrachycephalic skull shape), high J., & Seringe, R. (2009). Arthrogryposis
forehead, and flat occiput (back part of multiplex congenital: Long-term follow-up
head); hypertelorism with downward slant; from birth until skeletal maturity. Journal of
moderate-to-severe midface hypoplasia (flat Child of Orthopaedics, 3, 383–390.
mid-face) and nasal bridge; severe syndactyly Nordone, T., & Li, P. (2010). Arthrogrypo-
(webbing of fingers or toes); limb anomalies; sis multiplex congenita in association with
cleft palate, hypertelorism, and fused cervical bilateral temporormandibular joint hypo-
vertebrae. Associated complications: Hydroceph- mobility: Report of a case and review of
alus, varying degrees of intellectual disability, literature. Journal of Oral and Maxillofacial
hearing loss, teeth abnormalities, occasional Surgery, 68, 1197–1204.
heart and kidney anomalies. Cause: Muta- ataxia telangiectasia Disease category: Chro-
tions in the fibroblast growth factor recep- mosome breakage syndrome. Clinical fea-
tor-2 (FGFR2) gene on chromosome 10q26. tures: Slowly progressive ataxia, telangiecta-
Inheritance: Majority of cases are caused by a sias (dilation of capillaries, especially in the
NM, with AD inheritance when passed from sclera [whites of eye] and behind the earlobe),
764 Simpson
immune defects, elevated alpha-fetoprotein B1/BBS9, BBS10, TRIM32/BBS11, BBS12,

in blood, small cerebellum. Associated com- MKS1/BBS13, and CEP290/BBS14 linked to
plications: Dystonia or choreoathetosis, dys- chromosomal loci: 17q23, 16q21, 15q22.3-
arthric speech (imperfect articulation due q23, 14q32.1, 12q21.3, 12q21.2, 11q13,
to decreased motor control), increased sen- 9q31-q34.1, 8q21.13-q22.1, 7p14, 4q27,
sitivity to radiation, increased risk of malig- 4q27, 3p12-q13, 2q31, 20p12. Inheritance:
nancy (especially leukemia or lymphoma), Generally AR although in some families,
eye movement abnormalities, finger contrac- mutations in more than one BBS locus may
tures, increased risk of sinus and pulmonary result in a clinical phenotype of BBS. Preva-
infections; intelligence is typically unaffected lence: 1:100,000.
but may decline with disease progression. References: Sapp, J.C., Nishimura, D., John-
Survival is typically past 25 years and some ston, J.J., Stone, E.M., Héon, E., Sheffield,
live into their fifties. Cause: Mutation in the V.C., & Biesecker, L.G. (2010). Recurrence
ATM gene (Ataia-Telangiectasia Mutated) risks for Bardet-Biedl syndrome: Implica-
on chromosome 11q22.3. Involved in cel- tions of locus heterogeneity. Genetics in
lular responses to DNA damage and cell Medicine, 12(10), 623–627.
cycle control. Inheritance: AR. Prevalence: Batten disease (neuronal ceroid lipofuscino-
1:40,000–1:100,000 live births in the United sis, juvenile) Disease category: Neurological
States. Treatment: IVIG (intravenous immu- disorder. Clinical features: Typical develop-
noglobulin) replacement therapy for those ment until rapid vision loss begins between
with frequent and severe infections and low 4 and 10 years; children become completely
IgG levels; aggressive pulmonary hygiene for blind within 2 to 4 years of the onset of vision
those with chronic bronchiectasis; steroids loss. Gradual onset of ataxia, myoclonic, gen-
temporarily improve neurologic function eralize tonic-clonic or focal seizures happens
but symptoms reappear within days of dis- between ages 9 and 18. Early death usually
continuation; avoidance of excessive ionizing occurs by late teens or early 20s, although
radiation; treatments are under investigation some patients have lived into their 30s.
aimed at improving neurological symptoms. Associated complications: Gradual intellectual
References: Crawford, T.O., Skolasky, R.L., decline, spasticity, psychosis, kyphoscoliosis,
Fernandez, R., Rosquist, K.J., & Leder- decline in speech, behavioral problems, sleep
man, H.M. (2006). Survival probability in disturbance. Cause: The genes CLN3, PPT1,
ataxia telangiectasia. Archives of Disease in TPP1, and CLN9 are associated with juvenile
Childhood, 91(7), 610–611. neuronal ceroid-lipofuscinosis. Inheritance:
Lavin, M., Gueven, N., Bottle, S., & Gatti, AR. Incidence: 1.3–7:100,000 live births. Many
R.A. (2007). Current and potential thera- other forms of neuronal ceroid lipofuscinosis
peutic strategies for the treatment of ataxia- exist including infantile, late infantile, juve-
telangiectasia. British Medical Bulletin, nile, and adult forms. Mutations in 8 CLN
81–82, 129–147. genes (plus 2 more that have not been identi-
McGrath-Morrow, S., Gower, W.A., Roth- fied) cause various forms of neuronal ceroid
blum-Oviatt, C., Brody, A.S., Langston, lipofuscinosis.
C., Fan, L.L. … Lederman, H.M. (2010). References: Adams, H., Kwon, J., Marshall,
Evaluation and management of pulmonary F.J., de Blieck, E.A., Pearce, D.A., & Mink,
disease in ataxia-telangiectasia. Pediatric J.W. (2007). Neuropsychological symptoms
Pulmonology, 45, 847–859. of juvenile-onset Batten disease: Experi-
Bardet-Biedl syndrome (BBS) Disease cat- ences from two studies. Journal of Child
egory: Multiple congenital anomalies. Clini- Neurology, 22, 621–627.
cal features: Retinal dysfunction, polydactyly Adams, H., Beck, C.A., Levy, E., Jordan, R.,
(extra fingers or toes), obesity, learning dis- Kwon, J.M., Marshall, F.J. … Mink J.W.
abilities, genital abnormalities, renal anoma- (2010). Genotype does not predict severity
lies. Associated complications: Speech delay/ of behavioural phenotype in juvenile neu-
disorder, developmental delay, behavioral ronal ceriod lipofuscinosis (Batten disease).
abnormalities, eye abnormalities, ataxia, dia- Developmental Medicine and Child Neurology,
betes, heart abnormalities, abnormal liver 52(7), 637–643.
function, specific facial features, night blind- Kohlschutter, A., & Shulz, A. (2009). Towards
ness. Cause: Mutations have been found in understanding the neuronal ceroid lipofus-
14 genes: BBS1, BBS2, ARL6/BBS3, BBS4, cinoses. Brain and Development, 31, 499–
BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, 502.
Becker muscular dystrophy (BMD) See is rare, although it is seen more commonly in
muscular dystrophy. the Ashkenazi Jewish population.
Beckwith-Wiedemann syndrome Disease cat- References: Diaz, A., Vogiatzi, M.G., Sanz,
egory: Overgrowth syndrome/imprinting defect/ M.M., & German, J. (2006). Evaluation
contiguous gene syndrome. Clinical features: of short stature, carbohydrate metabolism
Macrosomia (large body size); large organs, and other endocrinopathies in Bloom’s syn-
especially the tongue; neonatal hypoglycemia drome. Hormone Research, 66, 111–117.
(low blood sugar), embryonal tumors (Wilms Thomas, E.R., Shanley, S., Walker, L., &
tumor, hepatoblastoma, neuroblastoma, Eeles, R. (2008). Surveillance and treat-
rhabdomysoarcoma), omphalocele (congeni- ment of malignancy in Bloom syndrome.
tal defect in abdominal wall containing the Clinical Oncology, 20(5), 375–379.
intestine), ear creases/pits, renal abnormali- BMD muscular dystrophy, Becker type See
ties. Associated complications: Advanced growth muscular dystrophy, Duchenne and Becker
for the first 6 years, with advanced bone age, types.
occasional hemihyperplasia (abnormal cell Börjeson-Forssman-Lehmann syndrome Dis-
proliferation leading to asymmetrical over- ease category: Multiple congenital anomalies. Clini-
growth), kidney or adrenal anomalies, occa- cal features: Obesity, short stature, postpubertal
sional intellectual disability (may be due to gynecomastia (breast enlargement in males),
untreated hypoglycemia). Cause: Abnormal large ears, coarse facial appearance, small
transcription and regulation of genes in the external genitalia, eye anomalies, tapering
imprinted domain on chromosome 11p15.5, fingers, varying degree of intellectual disabil-
two copies of paternal 11p15.5 (paternal ity. Associated complications: Seizures, abnormal
uniparental disomy or UPD), methylation head size ranging from microcephalic to mac-
abnormalities of gene KCNQ1OT1 (DMR2) rocephalic, hypotonia. Cause: Causative gene
or H19 (DMR1), mutations in CDKN1C, or PHF6 linked to chromosome Xq26.3. Inheri-
maternal rearrangments involving 11p15.5. tance: XLR, with females less severely affected
Inheritance: Majority of cases are caused by a than males. Prevalence: Rare.
NM with AD inheritance with variable pen- References: Carter, M.T., Picketts, D.J.,
etrance when passed from an affected individ- Hunter, A.G., & Graham, G.E. (2009).
ual. Incidence: 1:13,700 live births. Treatment: Further clinical delineation of the Borjeson-
Early treatment of hypoglycemia is critical; Forssman-Lehmann syndrome in patients
surgical repair of omphalocele. with PHF6 mutations. American Journal of
References: Choufani, S., Shuman, C., & Medical Genetics Part A, 149A, 246–250.
Weksberg, R. (2010). Beckwith-Wiede- De Winter, C.F., van Dijk, F., Stolker, J.J., &
mann syndrome. American Journal of Medi- Hennekam, R.C. (2009). Behavioural phe-
cal Genetics Part C, 154C, 343–354. notype in Borjeson-Forssman-Lehmann
Weksberg, R., Shuman, C., & Beckwith, J. syndrome. Journal of Intellectual Disability
(2010). Beckwith-Weidemann. European Research, 53(4), 319–328.
Journal of Human Genetics, 18, 8–14. Brachmann de Lange syndrome See de
biotinidase deficiency See multiple carbox- Lange syndrome.
ylase deficiency, late onset, juvenile form. Canavan disease (spongy degeneration of
Bloom syndrome Disease category: Chromo- central nervous system) Disease category:
some breakage syndrome. Clinical features: Neurological disorder. Clinical features: Pro-
Pre- and postnatal growth retardation, sparse gressive neurological disorder consisting of
subcutaneous fat, red, sun-sensitive skin macrocephaly, hypotonia progressing to spas-
lesion appears on the nose and cheeks after ticity with age, visual impairment, and early
sun exposure, high incidence of multiple can- death. Symptoms begin at 3–6 months of age;
cers. Associated complications: Mild intellectual children do not develop ability to sit, walk, or
disability or learning disability, gastroesopha- talk. Despite limitations, children are interac-
geal reflux, common infections, infertility tive. Associated complications: Feeding difficul-
in males, reduced fertility in females, non– ties with progressive swallowing problems,
insulin dependant diabetes, immunoglobulin gastroesophageal reflux, severe intellectual
deficiency, chronic lung disease. Cause: Muta- disability, head lag. Cause: Deficiency in the
tions in the BLM gene which encodes the enzyme aspartoacylase caused by a mutation
BLM RecQ protein on chromosome 15q26.1. in the ASPA gene on chromosome 17pter–
Inheritance: AR. Prevalence: Overall prevalence p13. Inheritance: AR. Prevalence: Rare in most
766 Simpson
populations; about 1:6,400–1:13,456 in Ash- and semaphorin-3E gene (SEMA3E) have

kenazi Jewish population. been shown to cause CHARGE. Inheritance:
References: Kumar, S., Mattan, N.S. & de Vel- Majority of cases are caused by a NM, with
lis, J. (2006). Canavan disease: A white mat- evidence of AD inheritance when passed
ter disorder. Mental Retardation and Devel- from an affected individual; associated with
opmental Disabilities Research Reviews, 12, increased paternal age. Usually SP; approxi-
157–165. mately 8% of cases are familial. Prevalence:
Namboodiri, A., Peethambaran, A., Mathew, 1:8,500 to 1:12,000; more common in females
R., Sambhu, P.A., Hershfield, J., Moffett, than males.
J.R., & Madhavarao, C.N. (2006). Canavan References: Wullfaert, J., Scholte, E.M., Dijkx-
disease and the role of N-acetylaspartate hoorn, Y.M., Bergman, J.E., van Raven-
in myelin synthesis. Molecular and Cellular swaaij-Arts, C.M., & van Berckelaer-Onnes,
Endocrinology, 252, 216–223. I.A. (2009). Parenting stress in CHARGE
Carpenter syndrome (acrocephalosyndac- syndrome and the relationship with child
tyly, type II) Disease category: Craniosyn- characteristics. Journal of Developmental and
ostosis. Clinical features: Craniosynostosis, Physical Disabilities, 21(4), 301–313.
flat nasal bridge, malformed and low-set ears, Zentner, G.E., Layman, W.S., Martin, D.M.,
short digits, syndactyly and/or polydactyly, & Scacheri, P.C. (2010). Molecular and
obesity, hypogenitalism and/or cryptor- phenotypic aspects of CHD7 mutation in
chidism. Associated complications: Congenital CHARGE syndrome. American Journal of
heart defects, hearing loss; 75% have mild Medical Genetics Part A, 152A, 674–686.
intellectual disability. Cause: Causative gene chondroectodermal dysplasia See Ellis-van
RAS-Associated Protein RAB23, which Creveld syndrome.
encodes an essential negative regulator of chromosome 22q11 microdeletion syn-
Sonic hedgehog signaling pathway. Inheri- dromes (i.e., DiGeorge syndrome, velo-
tance: AR. Prevalence: Rare. cardiofacial syndrome [VCFS], Shprintzen
References: Robinson, L.K., James, H.E., syndrome) Disease category: Multiple con-
Mubarak, S.J., Allen, E.J., & Jones, K.L. genital anomalies/contiguous gene. Clinical
(1985). Carpenter syndrome: Natural his- features: Microdeletions within the long arm
tory and clinical spectrum. American Jour- of chromosome 22 have varying presenta-
nal of Medical Genetics, 20, 461–469. tions, including DiGeorge syndrome, VCFS,
Jenkins, D., Seelow, D., Jehee, F.S., Perlyn, and isolated outflow tract defects of the heart.
C.A., Alonso, L.G., Bueno, D.F. … Wilkie, Characteristic facial appearance that includes
A.O. (2007). RAB23 mutations in Carpen- a small, open mouth; short palpebral fissures
ter syndrome imply an unexpected role for (eyelid openings); flat nasal bridge; bulbous
hedgehog signaling in cranial-suture devel- nasal tip; protuberant, low-set ears; vary-
opment and obesity. American Journal of ing degrees of palatal abnormalities ranging
Human Genetics, 80(6), 1162–1170. from cleft to velopharyngeal insufficiency;
cerebrohepatorenal syndrome See Zellwe- classic DiGeorge syndrome is associated
ger syndrome. with immune deficiency, hypoparathyroid-
CHARGE syndrome Disease category: Mul- ism leading to hypocalcemia, hypotonia, and
tiple congenital anomalies. Clinical features: congenital heart defect (especially conotrun-
CHARGE is an acronym that stands for: cal defects). Associated complications: Feeding
Coloboma (defect in iris or retina), heart problems in infancy, rare seizures, hyperna-
defect, choanal atresia (congenital block- sal speech, psychiatric illness, developmental
age of the nasal passages), retarded growth disabilities ranging from learning disability
and development, genital anomalies, and ear to more significant cognitive delays; gross
anomalies with or without hearing loss. Asso- and fine motor delays; expressive language
ciated complications: Hypogenitalism, cryptor- is delayed more significantly than receptive
chidism, occasional cleft lip/palate, varying language. Cause: 1.5- to 3.0-Mb hemizygous
degrees of intellectual disability ranging from deletion of chromosome 22q11.2. Haploin-
normal intelligence to profound intellectual sufficiency of the TBX1 gene in particular is
disability, behavioral problems, potentially responsible for most of the physical malfor-
severe visual and hearing impairments. Sur- mations. There is evidence that point muta-
vival ranges widely from 5 days to 46 years. tions in the TBX1 gene can also cause the
Cause: Mutations in the chromodomain disorder. Inheritance: AD. 93% from NM,
helicase DNA-binding protein-7 (CHD7) 7% received the deletion from an affected
parent; one parent occasionally has a chromo- craniofacial dysostosis See Crouzon syn-
somal rearrangement involving 22q, which drome.
increases the risk for recurrence; risk to off- cri-du-chat syndrome (chromosome 5p–
spring of affected individuals is 50%. Preva- syndrome) Disease category: Multiple con-
lence: A 2003 Centers for Disease Control genital anomalies/Contiguous gene syn-
(CDC) study found an overall prevalence of drome. Clinical features: Pre- and postnatal
about 1:6,000 in Caucasians, African Ameri- growth retardation, cat-like cry in infancy,
cans, and Asians, and 1:3,800 in the Hispanic hypertelorism with downward slant, micro-
population in the United States. cephaly, low-set ears, micrognathia, single
References: Drew, L.J., Crabtree, G.W., palmar crease, cognitive deficits ranging from
Markx, S., Stark, K.L., Chaverneff, F., Xu, learning difficulties in some patients to mod-
B. … Karayiorgou, M. (2011). The 22q11.2 erate or severe intellectual disability in oth-
microdeletion: Fifteen years of insights into ers. Receptive language skills are better then
the genetic and neural complexity of psy- expressive language. Associated complications:
chiatric disorders. International Journal of Severe respiratory and feeding difficulties in
Developmental Neuroscience. 29(3): 259–281. infancy, hypotonia, inguinal (groin) hernias,
Roizen, N.J., Higgins, A.M., Antshel, K.M., occasional congenital heart defects, sleep dis-
Fremont, W., Shprintzen, R., & Kates, turbance, hyperactivity. Cause: Partial dele-
W.R. (2010). 22q11.2 Deletion syndrome: tion of chromosome 5p15.2-deletions can
Are motor deficits more than expected for range from involving only the 5p15.2 band
IQ level? Journal of Pediatrics, 157(4), 658– to the entire short arm. There is evidence
661. that deletion of the telomerase reverse tran-
Cohen syndrome Disease category: Multiple scriptase gene (TERT) is specifically involved
congenital anomalies. Clinical features: Char- in the phenotypic changes. Inheritance: Usu-
acteristic facial features including thick hair ally NM; in 12% of cases, a parent carries a
and eyebrows, long eyelashes, wave-shaped balanced translocation. Prevalence: 1:20,000–
palpebral fissures, bulbous nasal tip, smooth 1:50,000.
or shortened philtrum; retinal dystrophy; References: Pituch, K., Green, V.A., Didden,
progressive high myopia; acquired micro- R., Whittle, L., O’Reilly, M.F., Lancioni,
cephaly; global developmental delay and vari- G.E., & Sigafoos, J. (2010). Educational
able intellectual disability; hypotonia; and priorities for children with cri-du-chat syn-
joint hyperextensibility. Associated complica- drome. Journal of Developmental and Physical
tions: Short stature, small or narrow hands Disabilities, 22(1), 65–81.
and feet, truncal obesity appearing in teen South, S.T., Swensen, J.J., Maxwell, T., Rope,
years after initial poor weight gain, friendly A., Brothman, A.R., & Chen, Z. (2006). A
disposition. Cause: Mutations in the COH1 new genomic mechanism leading to cri-du-
gene linked to chromosome 8q21–q22. Inher- chat syndrome. American Journal of Medical
itance: AR. Prevalence: Unknown, although it Genetics Part A, 140(24), 2714–2720.
is overrepresented in certain populations such Crouzon syndrome (craniofacial dysosto-
as the Finnish population and the Amish. sis) Disease category: Craniosynostosis. Clin-
References: Parri, V., Katzaki, E., Uliana, V., ical features: Craniosynostosis, shallow orbits
Scionti, F., Tita, R., Artuso, R... Ariani, F. with proptosis (protuberant eyeballs), hyper-
(2010). High frequency of COH1 intragenic telorism, strabismus, parrot-beaked nose,
deletions and duplications detected by short upper lip, maxillary hypoplasia (small
MLPA in patients with Cohen syndrome. upper jaw), conductive hearing loss. Associated
European Journal of Human Genetics, 18, complications: Increased intracranial pressure,
1133–1140. intellectual disability, seizures, visual impair-
Waite, A., Somer, M., O’Driscoll, M., Millen, ment, agenesis of corpus callosum, occasional
K., Manson, F.D., & Chandler, K.E. (2010). cleft lip or palate, obstructive airway prob-
Cerebellar hypoplasia and Cohen syn- lems. Cause: Mutations in fibroblast growth
drome: A confirmed association. American factor receptor-2 (FGFR2) gene on chromo-
Journal of Medical Genetics Part A, 152A(9), some 10q25.3–q26. Inheritance: AD with vari-
2390–2393. able expression; up to 25% may represent
congenital facial diplegia See Moebius new mutations. Prevalence: Unknown.
sequence. References: Papagrigorakis, M., Vilos, G.A.,
Cornelia de Lange syndrome See de Lange Apostolidis, C., Daskalopoulou, E., &
syndrome. Vlachogiannis, M. (2011). Long-term
768 Simpson
surgical cure of severe obstructive sleep DiGeorge syndrome See chromosome 22q11
apnea in an adult patient with craniofacial microdeletion syndromes.
dysostosis (Crouzon’s syndrome): A case DMD muscular dystrophy, Duchenne type
report and literature review. Sleeping and See muscular dystrophy, Duchenne and
Breathing, 15(2), 239–248. Becker types.
Goriely, A., Lord, H., Lim, J., Johnson, D., Down syndrome Disease category: Chromo-
Lester, T., Firth, H.V., & Wilkie, A.O. some abnormality/multiple congenital anom-
(2010). Germline and somatic mosaicism alies. Clinical features: Hypotonia, flat facial
for FGFR2 mutation in the mother of a profile, upward-slanting palpebral fissures,
child with Crouzon syndrome: Implications small ears, small nose with low nasal bridge,
for genetic testing in “paternal age-effect” single palmar crease, short stature, intellec-
syndromes. American Journal of Medical tual disability, congenital heart disease. Associ-
Genetics Part A, 152A, 2067–2073. ated complications: Atlantoaxial (upper cervical
Perlyn, C.A., Morriss-Kay, G., Darvann, T., spine) instability; hyperextensible large joints;
Tenenbaum, M., & Ornitz, D.M. (2006). A strabismus; thyroid dysfunction; predisposi-
model for the pharmacological treatment tion toward immune disorders and leuke-
of Crouzon syndrome. Neurosurgery, 59(1), mia; eye abnormalities, including strabismus,
210–215. nystagmus, cataracts, or glaucoma; narrow
de Lange syndrome (Brachmann de Lange ear canals and high incidence of middle-ear
syndrome, Cornelia de Lange syndrome) infections with potential hearing loss; neuro-
Disease category: Multiple congenital anoma- logical abnormalities include risk of seizures
lies. Clinical features: Prenatal growth retarda- and early-onset Alzheimer’s disease. Cause:
tion, postnatal short stature, hypertrichosis Extra chromosome 21 caused by trisomy,
(excessive body hair), synophrys (confluent mosaicism, or translocation. Inheritance: NM;
eyebrows), anteverted nostrils, depressed usually nondisjunction chromosomal abnor-
nasal bridge, long philtrum, thin upper lip, mality. Recurrence risk in the absence of
microcephaly, low-set ears, limb and digital translocation is 1%–2% in women younger
anomalies, eye problems (myopia, ptosis, or than 35 years and the same as the typical
nystagmus). Associated complications: Severe maternal age-related risk in women over 35
intellectual disability, occasional heart defect, years old at delivery. If translocation is pres-
gastrointestinal problems, features of autism, ent in parent, recurrence risk is higher and is
self-injurious behavior, occasional hearing dependent on sex of carrier parent. Prevalence:
loss. Cause: Mutations in the Nipped-B-like 1–1.5:100,000. Incidence: 1:800 births. See also
gene (NIPBL), which is linked to chromo- Chapter 18.
some 3q26.3 are found in 50% of cases. Muta- References: Feeley, K.M., & Jones, E.A. (2008).
tions in SMC1A (formerly SMC1L1) linked Strategies to address challenging behaviour
to Xp11.22-p11.21 have been identified in a in young children with Down syndrome.
small percentage of individuals. A mild ver- Down Syndrome Research and Practice, 12(2),
sion of Cornelia de Lange has been associated 153–163.
with the SMC3 gene. Inheritance: AD or XL, Rigoldi, C., Galli, M., & Albertini, G. (2010).
99% NM. Those with NIPBL mutations have Gait development during lifespan in sub-
a 50% chance of passing it on. Prevalence: jects with Down syndrome. Research in
Published estimates range from 1:10,000 to Developmental Disabilities, 32(1), 158–163.
1:100,000. Van Duijin, G., Dijkxhoorn, Y., Scholte,
References: Deardorff, M., Kaur, M., Yaeger, E.M., & van Berckelaer-Onnes, I.A. (2010).
D., Rampuria, A., Korolev, S., Pie, J. … The development of adaptive skills in
Krantz, I.D. (2007). Mutations in cohe- young people with Down syndrome. Jour-
sion complex members SMC3 and SMC1A nal of Intellectual Disability Research, 54(11),
cause a mild variant of Cornelia de Lange 943–954.
syndrome with predominant mental retar- Dubowitz syndrome Disease category: Mul-
dation. American Journal of Human Genetics, tiple congenital anomalies. Clinical features:
80 (3), 485–494. Prenatal onset of growth deficiency, postna-
Musio A., Selicorni, A., Focarelli, M.L., Ger- tal short stature, eczema, sparse hair; mild
vasini, C., Milani, D., Russo, S. … Larizza, microcephaly, cleft palate, dysmorphic facial
L. (2006). X-linked Cornelia de Lange features, including high forehead, broad nasal
syndrome owing to SMC1L1 mutations. bridge, ptosis, epicanthal folds. Associated com-
Nature Genetics, 38, 528–530. plications: Intellectual disability, behavioral
disturbances, recurrent infections, increased easy bruisability, joint hyperextensibility, and

frequency of malignancy, occasional hypospa- hyperelastic skin. Classic (previously type I
dias (abnormality in the location of the male and II) and hypermobility (previously type
urethra) or cryptorchidism, hypoparathyroid- III) forms are most commonly described and
ism. Cause: Unknown. Inheritance: AR. Preva- have similar clinical presentations with the
lence: Rare. previously mentioned features; the vascular
References: Tsukahara, M., & Opitz, J.M. form (previously type IV) is characterized by
(1996). Dubowitz syndrome: Review of 141 severe blood vessel involvement with risk of
cases, including 36 previously unreported spontaneous arterial rupture; the progeroid
patients. American Journal of Medical Genet- (premature aging) form is characterized by
ics, 63, 277–289. wrinkled face, curly/fine hair, scanty eyebrows
Yesilkaya, E., Karaer, K., Bideci, A., Camur- and eyelashes, and periodontitis in addition
dan, O., Perçin, E.F., & Cinaz, P. (2008). to the other usual signs of EDS; type V has
Dubowitz syndrome: A cholesterol metab- been questioned as to whether it is a actually
olism disorder? Genetic Counseling, 19, 287– a distinct phenotype; the kyphoscoliotic (type
290. VI) form is characterized by eye involvement,
Duchenne muscular dystrophy (DMD) See including corneal fragility and kyphoscoliosis
muscular dystrophy, Duchenne and Becker (curvature of the spine); the arthrochalasia
types. type (type VIIA &B) presents with congenital
ectrodactyly–ectodermal dysplasia–clefting bilateral hip dislocation; the dermatosparaxis
(EEC) syndrome Disease category: Ecto- type (previously type VIIC) includes delayed
dermal dysplasia. Clinical features: Ectrodac- closure of the fontanelles, characteristic facies,
tyly (split hands or feet), ectodermal dysplasia edema of the eyelids, blue sclerae, short stature
(abnormal skin development), sparse hair, and fingers; the periodontitis type (previously
cleft lip and palate, lacrimal (tear) duct abnor- type VIII) includes periodontal disease; cardiac
malities; intelligence is not usually affected. valvular form has the typical signs as well as
Associated complications: Occasional renal (kid- cardiac valvular defects. Associated complications:
ney) or genital anomalies, hearing impair- Occasional intellectual disability, premature
ment, hypodontia (underdeveloped teeth), loss of teeth, mitral valve prolapse, intestinal
lymphoma associated with EEC3 only. Cause: hernias, premature delivery from premature
Mutations in p63 gene at 3q27 cause EEC rupture of membranes, scoliosis, abnormalities
type 3; EEC type 1 have been linked to chro- of thymus. Cause: Each form is associated with
mosome 7q21–q22. Inheritance: AD with vari- an abnormality in the formation of collagen.
able penetrance and expressivity. Prevalence: The classic form is caused by mutations in the
Unknown. See also Ehlers-Danlos syndrome. COL5A1 and COL5A2 genes; hypermobility
References: Birgfeld, C., Glick, P., Singh, D., form is caused by mutations in the COL3A1
LaRossa, D., & Bartlett, S. (2007). Midface gene as well as the tenascin XB gene (TNXB);
growth in patients with ectrodactyly-ecto- the vascular type is caused by mutations in the
dermal dysplasia-clefting syndrome. Plastic COL3A1 gene; the progeroid form is caused
and Reconstructive Surgery, 120(1), 144–150. by mutations in B4GALT7 gene; mutations
Clements, S.E., Techanukul, T., Coman, D., in the lysyl hydroxylase gene (PLOD) cause
Mellerio, J.E., & McGrath, J.A. (2010). some cases of kyphoscoliotic form; arthro-
Molecular basis of EEC (ectrodactyly, chalasia type are caused by mutations in the
ectodermal dysplasia, clefting) syndrome: COL1A1 and COL1A2 gene. Dermatosp-
Five new mutations in the DNA-binding araxis type is linked to the ADAMTS2 gene;
domain of the TP62 gene and genotype- cardiac valvular type is linked to COL1A2. A
phenotype correlation. British Journal of possible new form of EDS was discovered in
Dermatology, 162(1), 201–207. 2010 to be like the kyphoscoliotic form but
Edwards syndrome See trisomy 18 syn- without lysyl hydroxylase deficiency and has
drome. been linked to the gene CHST14. Inheritance:
EEC syndrome See ectrodactyly-ectodermal Classic, hypermobility, vascular, arthrochalasia
dysplasia-clefting syndrome. and periodontitis types are all AD. Progeroid,
Ehlers-Danlos syndrome (EDS) Disease kyphoscolotic, dermatospraxia and cardiac
category: Connective tissue disorder. Clinical valvular are all AR. Prevalence: Classic type is
features: At least 10 distinct forms have been 1:20,000; hypermobility type ranges from 1 in
described. All include aspects of skin fragility, 5,000–1:20,000; kyphoscolotic form estimates
770 Simpson
around 1:100,000; vascular type 1:250,000; the swallowing disorder, ataxia, decreased
rest unknown. See also ectrodactyl-ectodermal reflexes. Associated complications: Feeding dif-
dysplasia-clefting syndrome. ficulties, scoliosis, joint abnormalities, hyper-
References: Malfait, F., Wenstrup, R.J., & tension, aseptic necrosis of bones (damage
De Paepe, A. (2010). Clinical and genetic to bony tissue unassociated with infection or
aspects of Ehlers-Danlos syndrome, classic injury). Neuronal degeneration is progres-
type. Genetics in Medicine, 12(10), 597–605. sive. Cause: Mutation of IKBKAP gene (stands
Miyake, N., Kosho, T., Mizumoto, S., for inhibitor of kappa light polypeptide gene
Furuichi, T., Hatamochi, A., Nagashima, enhancer in B-cells, kinase complex associated
Y. … Matsumoto, N. (2010). Loss-of-func- protein) localized to chromosome 9q31–q33.
tion mutations of CHST14 in a new type of Inheritance: AR. Prevalence: Rare; 1:36 carrier
Ehlers-Danlos syndrome. Human Muta- frequency in Ashkenazi Jewish population.
tion, 31, 966–974. References: Axelrod, F.B. (2006). A world
Savasta, S., Merli, P., Ruggieri, M., Bianchi, without pain or tears. Clinical Autonomic
L., & Spartà, M.V. (2011). Ehlers-Danlos Research, 16, 90–97.
syndrome and neurological features: A Gold-von Simson, G., Goldberg, J.D., Rol-
review. Child Neurology, 27(3), 365–371. nitzky, L.M., Mull, J., Leyne, M., Voustian-
Ellis-van Creveld syndrome (chondroecto- iouk, A. … Axelrod, F.B. (2009). Kinetin
dermal dysplasia) Disease category: Ecto- in familial dysautonomia carriers: Impli-
dermal dysplasia. Clinical features: Short- cations for a new therapeutic strategy tar-
limbed dwarfism (final height 43–60 inches or geting mRNA splicing. Pediatric Research,
109 to 152cm), polydactyly, nail abnormali- 65(3), 341–346.
ties, neonatal teeth, underdeveloped and pre- Sands, S.A., Giarraffa, P., Jacobson, C.M., &
mature loss of teeth, congenital heart defect Axelrod, F.B. (2006). Familial dysautono-
in 50%; intelligence is usually not affected. mia’s impact on quality of life in childhood,
Associated complications: Severe cardiorespira- adolescence, and adulthood. Acta Pædiat-
tory problems in infancy specifically atrial rica, 95, 457–462.
septation (producing a common atrium in the FAS See fetal alcohol syndrome.
heart), hydrocephalus, severe leg deformi- fetal alcohol effects (FAE) Former term for
ties. Cause: Mutations in the EVC and EVC 2 alcohol-related neurodevelopmental effects
genes located on chromosome 4p16. Inheri- (ARND); see Chapter 3.
tance: AR. Prevalence: Rare, more common in fetal alcohol syndrome (FAS) See Chapter 3.
the Amish population. fetal face syndrome See Robinow syndrome.
References: Tompson, S.W., Ruiz-Perez, V.L., fetal hydantoin syndrome Phenytoin syn-
Blair, H.J., Barton, S., Navarro, V., Robson, drome.
J.L. … Goodship, J.A. (2007). Sequencing FGDY faciogenital dysplasia See Aarskog-
EVC and EVC2 identifies mutations in Scott syndrome.
two-thirds of Ellis-van Creveld syndrome FMR1-related disorders (fragile X syn-
patients. Human Genetics, 120(4), 662–670. drome, fragile X-associated tremor/ataxia
Ulucan, H., Gül, D., Sapp, J.C., Cockerham, syndrome (FXTAS), and FMR1-related
J., Johnston, J.J., & Biesecker, L.G. (2008). primary ovarian insufficiency) Disease cat-
Extending the spectrum of Ellis van Crev- egory: Neurological disorder/triplet repeat
eld syndrome: a large family with a mild expansion. Clinical features: Males with full
mutation in the EVC gene. BMC Medical mutations typically have a large head, long
Genetics, 9(92). face, prominent forehead and chin, protruding
facio-auriculo-vertebral spectrum See ocu- ears, behavioral problems such as hyperactivity,
loauriculovertebral spectrum. hand flapping, hand biting, temper tantrums,
faciodigitogenital dysplasia (FGDY) See and sometimes autism. Associated complications:
Aarskog-Scott syndrome. Abnormalities of connective tissue with finger
FAE See fetal alcohol effects. joint hypermobility or joint instability, mitral
familial dysautonomia (Riley-Day syn- valve prolapse, large testes. Females heterozy-
drome) Disease category: Neurological gous for full-mutation alleles can have similar
disorder. Clinical features: Absent or sparse phenotypes as males but with lower frequency
tears, absence of fungiform papillae (knob- and generally milder involvement. Both males
like projections) on tongue, diminished pain and females with permutations are known to
and temperature sensation, postural hypoten- develop FXTAS-late-onset progressive cere-
sion, abnormal sweating, episodic vomiting, bellar ataxia and intention tremor. Twenty-one
percent of females who are carriers of permu- Cause: Usually homozygous guanine-adenos-
tation alleles develop primary ovarian insuf- ine-adenosine (GAA) expansions in intron 1
ficiency (cessation of menses before age 40). of the frataxin (FXN) gene on chromosome
Cause: Mutation in FMR1 gene on Xq27– 9q13; point mutations in the FXN have also
q28; molecular analysis reveals an increase in been identified. Normal alleles are 5–33 GAA
cytosine-guanine-guanine (CGG) trinucleo- repeats; premutation alleles are 34–65 unin-
tide repeats in the coding sequence of the terrupted GAA repeats; full disease-causing
FMR1 gene. Normal allele sizes vary from 6 alleles are 66-1700 GAA repeats. Inheritance:
to approximately 55 CGG repeats. Phenotypi- AR. Prevalence: Approximately 2–4:100,000.
cally unaffected individuals have premutations, Treatment: Supportive care includes physi-
with allele size ranging from 55 to 200 but are cal therapy, orthopedic surgery to correct
at risk for FXTAS and POI. Allele sizes of progressive scoliosis, and close cardiology
greater than 200 CGG repeats generally indi- follow-up. Antioxidants such as Idebenone
cate a full mutation with phenotypic expres- have been used with intial success. Additional
sion of the syndrome. Inheritance: X-linked studies must be done to confirm these results
with genetic imprinting (full mutations are and monitor long-term effects.
not inherited from the father) and anticipation References: Delatycki, M.B. (2009). Evaluat-
(number of repeats may increase in subsequent ing the progression of Friedreich ataxia and
generations). Prevalence: 16–25:100,000 males; its treatment. Journal of Neurology, 256(1),
prevalence of females affected with fragile X is 36–41.
presumed to be half the male prevalence. See Mancuso, M., Orsucci, D., Choub, A., &
also Chapter 11. Siciliano, G. (2010). Current and emerg-
References: Boyle, L., & Kaufmann, W.E. ing treatment options in the management
(2010). The behavioral phenotype of FMR1 of Friedreich ataxia. Neuropsychiatric Disease
mutations. American Journal of Medical and Treatment, 6, 491–499.
Genetics Part C: Seminars in Medical Genet- G syndrome See Opitz GBB syndrome.
ics, 154C(4), 469–476. GBS See Guillain-Barre Syndrome.
Rodriguez-Revenga, L., Pagonabarraga, J., galactosemia Disease category: Inborn
Gómez-Anson, B., López-Mourelo, O., error of metabolism: carbohydrate. Clini-
Madrigal, I., Xunclà M. … Milà, M. (2010). cal features: Jaundice, lethargy, hypotonia
Motor and mental dysfunction in mother- in the newborn period; poor weight gain
daughter transmitted FXTAS. Neurology, with vomiting and diarrhea; bleeding dia-
75(15), 1370–1376. thesis; cataracts; liver dysfunction; varying
Symons, F.J., Byiers, B.J., Raspa, M., Bishop, degrees of intellectual impairment (severe if
E., & Bailey, D.B. (2010). Self-injurious untreated); visual-perceptual impairments;
behavior and fragile X syndrome: Findings verbal dyspraxia. Associated complications:
from the national fragile X survey. Ameri- Ovarian failure, hemolytic anemia, increased
can Journal on Intellectual and Developmental risk of sepsis (particularly E. coli in neonate),
Disabilities, 115(6), 473–81. cerebellar ataxia, tremors, choreoathetosis.
5p– syndrome See cri-du-chat syndrome. Some newborns have a mild variant galac-
45,X See Turner syndrome. tosemia (Duarte galactosemia), which is not
47,X See XXX, XXXX, and XXXXX syn- associated with developmental delays, cata-
dromes. racts, or hepatocellular damage. Nutritional
fragile X syndrome See FMR1-related disorders intervention is not usually necessary or is
Friedreich ataxia Disease category: Neuro- restricted only to children under 1 year of
logical disorder/triplet repeat expansion. age. Cause: Onset of clinical features is in
Clinical features: Slowly progressive neuro- part dependant on the ingestion of dietary
logical disorder characterized by limb and galactose; individuals diagnosed by newborn
gait ataxia, dysarthria, nystagmus, pes cavus screening in whom galactose has been with-
(high-arched feet), hearing loss, kyphosco- held still experience some cognitive defi-
liosis (backward curve of the spine). In rare cits, speech defects, cataracts and ovarian
cases, progression is rapid. Onset is usually failure (females). Cause: A deficiency of the
between age 10–15. Associated complications: enzyme galactose-1-phosphate uridyltrans-
Delayed motor milestones, cardiomyopathy ferase or (GALT), less commonly, galacto-
(heart muscle weakness), and/or congestive kinase (both are enzymes required for diges-
heart failure; increased risk of insulin-depen- tion of galactose, a natural sugar found in
dent diabetes mellitus; impaired color vision. milk). The GALT gene is on chromosome
772 Simpson
9p13. Inheritance: AR. Prevalence: 1:10,000– 2 Gaucher disease: Phenotypic variation

1:30,000 in the United States. Treatment: and genotypic heterogeneity. Blood Cells and
Galactose-free diet. Molecular Disease, 46(1), 75–84.
References: Cuthbert, C., Klapper, H., & Elsas, globoid cell leukodystrophy See Krabbe
L. (2008). Diagnosis of inherited disorders disease.
of galactose metabolism. Current Protocols in glutaric acidemia, type I (a disorder of
Human Genetics, 17, Unit 17.5. organic acid metabolism) Disease category:
Panis, B., Gerver, W.J., & Rubio-Gozalbo, Inborn error of metabolism: organic acide-
M.E. (2007). Growth in treated classical mia. Clinical features: Macrocephaly, hypoto-
galactosemia patients. European Journal of nia, basal ganglia lesions causing a movement
Pediatrics, 166, 443–466. disorder (dystonia), and seizures present
Gaucher disease Disease category: Inborn between 6 and 18 months, interrupting oth-
error of metabolism: lysosomal storage dis- erwise typical development. This disorder
ease. Clinical features: Three clinically distinct may mimic dyskinetic cerebral palsy. Associ-
forms, the most common of which (type I) has ated complications: Episodic acidosis, vomit-
onset in adulthood including enlarged spleen ing, lethargy, and coma. Intellectual disabil-
and liver, anemia, thrombocytopenia, and ity is usual, although intellectual functioning
bone involvement; it is distinguished by the may remain intact. Cause: Mutations in the
lack of neurological involvement. Most indi- glutaryl-CoA dehydrogenase (GCDH) gene
viduals with type I go undiagnosed. Type II on chromosome 19p13.2 result in accumula-
presents in infancy with an enlarged spleen, tion of glutaric acid and to a lesser degree of
hematological abnormalities, bony lesions, 3-hydroxyglutaric and glutaconic acids. Inher-
abnormalities of skin pigmentation, limited itance: AR. Prevalence: Overall frequency is
psychomotor development and rapidly pro- 1:100,000; 1:30,000 in Sweden; and 1:50,000
gressive course. Most children will die within in the United States. It is more common in
the first 2 to 4 years of life. Type III is more certain ethnic groups such as in the Amish
variable with ataxia, seizures, eye movement population. Treatment: Low protein diet and
disorder, and dementia with onset before age supplemental oral carnitine.
2 but with a more slowly progressive course. References: Bijamia, S., Wiley, V., Carpen-
There is also a perinatal lethal form associ- ter, K., Christodoulou, J., Ellaway, C.J., &
ated with ichthyosiform or collodion skin Wilcken, B. (2008). Glutaric aciduria type
abnormalities and nonimmune hydrops feta- I: Outcome following detection by new-
lis (accumulation of fluid, or edema). Associ- born screening. Journal of Inherited Disease,
ated complications: Rare associated features 31(4), 503–507.
such as cardiac valvular involvement and Hedlund, G., Longo, N., & Pasquali, M.
Parkinsonian features have been associated (2006). Glutaric academia type 1. American
with specific genotypes. Cause: Accumulation Journal of Medical Genetics Part C: Seminars
of glucosylceramide due to deficiency of the in Medical Genetics, 142C(2), 86–94.
enzyme beta-glucosidase from mutations in glutaric acidemia, type II (multiple acyl-
the GBA gene on chromosome 1q21. Inheri- CoA dehydrogenase deficiency) Disease
tance: AR. Prevalence: Rare in general popu- category: Inborn error of metabolism: organic
lation; prevalence of type I estimated to be acidemia. Clinical features: Severe metabolic
approximately 1:855 in the Ashkenazi Jewish acidosis, hypoglycemia, and cardiomyopathy,
population. Treatment: Enzyme replacement and urine with a characteristic odor of sweaty
therapy improves rate of bone loss, reduces feet, similar to that present in isovaleric acide-
spleen size, and so forth but does not seem mia. Dysmorphic facial features (macroceph-
to affect neurological symptoms; thus it is aly, large anterior fontanelle [soft spot], high
generally used only in individuals with type 1 forehead, flat nasal bridge, and malformed
bone marrow transplantation. ears) are seen in one half of cases. This con-
References: Biegstraaten, M., Mengel, E., dition also can present later in life with epi-
Maródi, L., Petakov, M., Niederau, C., sodic vomiting, acidosis, and hypoglycemia.
Giraldo, P. … van Schaik, I.N. (2010). Associated complications: Muscle weakness,
Peripheral neuropathy in adult type 1 Gau- liver disease, cataracts, respiratory distress,
cher disease: A 2-year prospective observa- renal (kidney) cysts. Cause: Mutations in at
tional study. Brain, 133(10), 2909–2019. least three different genes—ETFA, ETFB,
Gupta, N., Oppenheim, I.M., Kauvar, E.F., and ETFDH—have been identified. No clini-
Tayebi, N., & Sidransky, E. (2011). Type cal differences with respect to causative gene
have been identified. Inheritance: AR. Preva- developmental problems, and can mollify the
lence: Rare. Treatment: Diet with supplemen- biochemical abnormalities. No more specific
tal riboflavin and carnitine. treatment, however, is yet available for any of
References: Angle, B., & Burton, B.K. (2008). the glycogenoses. Liver transplantation has
Risk of sudden death and acute life-threat- been attempted in types I, III, and IV, with
ening events in patients with glutaric aca- correction of the biochemical abnormalities
demia type II. Molecular Genetics and Metab- but not all sequelae.
olism, 93(1), 36–39. References: Lee, Y.C., Chang, C.J., Bali, D.,
Liang, W.C., Ohkuma, A., Hayashi, Y.K., Chen, Y.T., & Yan, Y.T. (2011). Glycogen-
López, L.C., Hirano, M., Nonaka, I. … branching enzyme deficiency leads to abnor-
Nishino, I. (2009). ETFDH mutations, mal cardiac development: Novel insights
CoQ10 levels, and respiratory chain activi- into glycogen storage disease IV. Human
ties in patients with riboflavin-responsive Molecular Genetics, 20(3), 455–465.
multiple acyl-CoA dehydrogenase defi- Ozen, H. (2007). Glycogen storage diseases:
ciency. Neuromuscular Disorders, 19(3), New perspectives. World Journal of Gastro-
212–216. enterology, 13(18), 2541–2553.
glycogen storage diseases (glycogenoses) Shin, Y.S. (2006). Glycogen storage disease:
Disease category: Inborn error of metabolism: Clinical, biochemical, and molecular het-
carbohydrate. Clinical features: More than 12 erogeneity. Seminars in Pediatric Neurology,
forms of glycogen storage diseases are cur- 13(2), 115–120.
rently known, all caused by defects in the GM2 gangliosidosis, type I See Tay-Sachs
production or breakdown of glycogen and disease.
resulting in a wide spectrum of clinical fea- Goldenhar syndrome See oculoauriculover-
tures. They share varying degrees of liver tebral spectrum.
and muscle abnormalities and can be broken Guillain-Barré Syndrome (GBS) Disease cat-
down by whether they primarily affect the egory: Neuromuscular disease. Clinical features:
muscle (and therefore present with muscle GBS is an acute inflammatory demyelinating
cramps, easy fatigability, and progressive polyneuropathy. Pain and the development
muscle weakness) or the liver (where an over one to several days of muscle weakness,
enlarged liver and decreased blood sugar are with the inability to walk and a loss of deep
the initial symptoms). In all disease forms, tendon reflexes. The weakness affects both
patient organs have excessive glycogen accu- sides of the body symmetrically, usually start-
mulation. Types I (glucose-6-phosphate ing in the lower extremities. The arms are
deficiency), II (Pompe disease, acid alpha- involved later, with maximum weakness occur-
glucosidase deficiency), III (amylo-1, 6-gly- ring by 3 weeks. Most children with GBS
cosidase deficiency), and VI (hepatic phos- begin to recover 2–3 weeks after the symptoms
phorylase deficiency) are the most common began. About 85% of affected children are able
and represent almost 95% of cases. Common to walk within 6 months; however, some have
clinical features include hypoglycemia, short residual weakness. The mortality rate is 3%,
stature, enlarged spleen, and muscle weak- and the chance of relapse has been reported as
ness. Associated complications: Hypotonia, renal 7% in children. Cause: It can follow an upper
(kidney) abnormalities, gouty arthritis, bleed- respiratory or gastrointestinal (GI) viral infec-
ing abnormalities, hypertension, respiratory tion. A specific type of GI infection produced
distress; type II disease characteristically by the bacteria campylobacter jejuni has been
has severe cardiac, muscle, and neurologi- particularly associated with GBS. GBS is con-
cal involvement. Cause: Deficiencies in the sidered an autoimmune disease. Although rare
various enzymes involved in the synthesis familial cases have been reported, it is thought
and degradation of glycogen. There are many to be a multifactorial disease with both genetic
genes and chromosome locations associated and environmental factors contributing to
with glycogenoses. Inheritance: All except its occurrence. Incidence: 0.4–1.7 cases per
type IX (previously type VIII) are inherited 100,000 people each year. Diagnosis: Spinal
as AR; type IX is XLR. Prevalence: Combined fluid analysis and electromyographic evalua-
incidence of 1:20,000–1:25,000. Treatment: tion. Treatment: Treatment is mostly support-
Increased protein intake and overnight tube ive. About 10%–20% need to be placed on a
feeding of starch to maintain normoglycemia ventilator. Medical treatment includes the use
have been shown to be useful for supportive of intravenous immune globulin (IVIG) and/
care. This treatment also prevents growth and or plasmapheresis.
774 Simpson
References: Hughes, R.A., & Cornblath, D.R. encompasses a spectrum of midline defects
(2005). Guillain-Barré syndrome. The Lan- of the brain and face, which occur after failed
cet, 9497, 1653–1666. or abbreviated midline cleavage of the devel-
Van Doorn, P.A., Kuitwaard, K., Walgaard, oping brain during the third to fourth weeks
C., van Koningsveld, R., Ruts, L., & Jacobs, gestation. The most severe are incompatible
B.C. (2010). IVIG treatment and progno- with life. Individuals who survive have vary-
sis in Guillain-Barre syndrome. Journal of ing degrees of disability ranging from typi-
Clinical Immunology, 30(1), S74–S78. cal development with hypotelorism (widely
Van Doorn, P.A., Ruts, L., & Jacobs, B.C. spaced eyes) to alobar holoprosencephaly
(2008). Clinical features, pathogenesis, and (brain without segmentation into hemi-
treatment of Guillain-Barre syndrome. spheres) and cyclopia (single central eye).
Lancet Neurology, 7(10), 939–950. Associated complications: Seizures, endocrine
Hallermann-Streiff syndrome (oculoman- abnormalities, micropenis and other genital
dibulodyscephaly with hypotrichosis) anomalies, cleft of retinae, and intellectual
Disease category: Skeletal dysplasia. Clinical disability. Facial anomalies are seen in 80%
features: Proportionate short stature; char- of cases. Cause: Genetically heterogeneous;
acteristic facial appearance, including small sonic hedgehog (SHH) gene on chromo-
eyes, small, pinched nose, and small mouth; some 7q36 implicated in some cases; many
sparse, thin hair; frontal bossing (prominent cases have involved mutations in different
central forehead). Associated complications: Var- genes, such as those located at 2p21 (SIX3
ious eye abnormalities, including nystagmus, gene), 13q32 (ZIC2 gene), 18p11.3 (TGIF
strabismus, cataracts, and/or decreased visual gene), 22q22.3 (HPE1 gene), 2q37.1, 9q22.3
acuity; neonatal teeth and other dental abnor- (PTCH1), 14q13, 2q14 (GLI2 gene), and to
malities; narrow upper airway or tracheoma- 1q41-q42; cases may be caused by a single
lacia (softening of the tracheal cartilages), gene or a larger chromosomal abnormality.
with related respiratory difficulty; frequent Inheritance: May be part of a syndrome or
respiratory infections, snoring, and feeding caused by teratogenic exposure; as an isolated
difficulties; clinical overlap with oculodento- birth defect may be AD or AR. Prevalence:
digital dysplasia (ODDD) has been suggested; 1:250 gestations but 1:8,000 live births.
intellectual disability has been reported in References: Hahn, J.S., Barkovich, A.J., Stash-
some cases. Cause: Unknown, believed to be inko, E.E., Kinsman, S.L., Delgado, M.R.,
genetic; one patient has been identified with & Clegg, N.J. (2006). Factor analysis of
a homozygous mutation in the GJA1 gene neuroanatomical and clinical characteristics
known to be causative in ODDD. Inheritance: of holoprosencephaly. Brain and Develop-
Most reported cases are not inherited from an ment, 28(7), 413–9.
affected parent and are assumed to be caused Lacbbawan, F., Solomon, B.D., Roessler, E.,
by a NM. Prevalence: 150 cases known to exist. El-Jaick, K., Domené, S., Vélez, J.I. …
References: Morice-Picard, Marlin, S., Muenke, M (2009). Clinical spectrum of
Rooryck, C., Fayon, M., Thambo, J.B., SIX3-associated mutation sin holoprosen-
Demarquez, J.L. … Lacombe, D. (2009). cephaly: Correlation between genotype,
Hallerman-Streiff-like syndrome present- phenotype, and function. Journal of Medical
ing with laterality and cardiac defects. Clin- Genetics, 46(6), 389–98.
ical Dysmorphology, 18, 116–119. Holt-Oram syndrome Disease category: Mul-
Pizzuti, A., Flex, E., Mingarelli, R., Salpietro, tiple congenital anomalies. Clinical features:
C., Zelante, L., & Dallapiccola, B. (2004). A Upper-limb defect ranging from hypoplastic
homozygous GJA1 gene mutation causes a (incompletely formed), abnormally placed or
Hallermann-Streiff/ODDD spectrum phe- absent thumbs to hypoplasia of radius, ulna,
notype. Human Mutation, 23, 286. or humerus (arm bones) to complete pho-
hemifacial microsomia See oculoauriculo- comelia (foreshortened limbs); 85%–95%
vertebral spectrum. of affected individuals also have congenital
hereditary progressive arthroophthalmopa- heart defect (atrial septal defect and ventricu-
thy See Stickler syndrome. lar septal defect are most common). Associ-
holocarboxylase synthetase deficiency See ated complications: Occasional abnormalities
multiple carboxylase deficiency, infantile or of chest muscles and vertebral anomalies.
early form. Cause: Mutations in the TBX5 gene on chro-
holoprosencephaly Disease category: Malfor- mosome 12q2. Inheritance: AD with variable
mation. Clinical features: This classification expression; may increase in severity with
each generation. Prevalence: Approximately of homocystinuria due to cystathionine

1:100,000. B-synthase deficiency. Molecular Genetics
References: Basson, C.T., Cowley, G.S., Solo- and Metabolism, 99, 1–3.
mon, S.D., Weissman, B., Poznanski, A.K., Yap, S. (2003). Classical homocystinuria:
Traill, T.A. … Seidman, C.E. (1994). The Vascular risk and its prevention. Journal of
clinical and genetic spectrum of Holt-Oram Inherited Metabolic Disorders, 26, 259–265.
syndrome (heart–hand syndrome). The New Hunter syndrome (MPS II) See mucopoly-
England Journal of Medicine, 330, 885–891. saccharidoses (MPS).
Boogerd, C.J., Dooijes, D., Ilgun, A., Mathi- Huntington disease (HD; previously called
jssen, I.B., Hordijk, R., van de Laar, I.M. Huntington chorea), juvenile Disease cat-
… Postma, A.V. (2010). Functional analysis egory: Neurologic/triplet repeat expansion.
of novel TBX5 T-box mutations associated Clinical features: Juvenile onset progressive
with Holt-Oram syndrome. Cardiovascular neurological disorder. For cases to be con-
Research, 88(1), 130–139. sidered juvenile HD onset must occur by 20
McDermott, D., Bressan, M.C., He, J., Lee, years of age. Children present with dysarthria,
J.S., Aftimos, S., Brueckner, M. … Basson, clumsiness, hyperreflexia, rigidity, and oculo-
C.T. (2005). TBX5 Genetic testing vali- motor disturbances. Associated complications:
dates strict clinical criteria for Holt-Oram Joint contractures, swallowing dysfunction,
syndrome. Pediatric Research, 58(5), 981– seizures. Cause: Expansion of CAG (cytosine-
986. adenineguanine) trinucleotide repeat in Hun-
homocystinuria Disease category: Inborn error tington gene on chromosome 4p16.3 (normal
of metabolism: amino acid. Clinical features: number of CAG repeats is 11–34; individuals
Downward dislocation of lens of the eye (with affected with juvenile HD have greater than
myopia); tall, slim physique; hypopigmenta- 60 CAG repeats). Inheritance: AD with antici-
tion (fair skin); and sparse, thin hair. Two forms pation (earlier onset with each generation,
have been described, differing in their respon- especially when paternally inherited). Pro-
siveness to pyridoxine (vitamin B6). Associated gression in children with paternally inher-
complications: Mild to moderate intellectual dis- ited disease is more rapid than in children
ability in one half to three fourths of untreated with maternally inherited disease. Prevalence:
individuals; a vascular event such as myocardial 3:100,000–7:100,000; juvenile onset disease
infarction and stroke occurs in 50% of affected accounts for 5%–10% of all cases of HD.
individuals by age 30 due to increased risk for References: Toufexis, M., & Gieron-Korthals,
blood clots; behavioral disorders, cataracts, or M. (2010). Early testing for Huntington
glaucoma; scoliosis; osteoporosis. Cause: Inher- disease in children: Pros and cons. Journal
ited defect in the enzyme cystathionine beta- of Child Neurology, 25(4), 482–484.
synthetase caused by mutations in the CBS Ribai, P., Nguyen, K., Hahn-Barma, V.,
gene on chromosome 21q22. Inheritance: AR Gourfinkel-An, I., Vidailhet, M., Legout,
with variable expressivity. Incidence: Ranges A. … Dürr, A. (2007). Psychiatric and cog-
from 1:65,000 in Ireland to 1:344,000 world- nitive difficulties as indicators of juvenile
wide. Treatment: Folic acid supplementa- Huntington disease onset in 29 patients.
tion, use of betaine, and dietary restriction of Archives of Neurology, 64(6), 813–9.
methionine have shown promise; pyridoxine is Hurler syndrome (MPS IH) See mucopoly-
used in the rare individuals who have the pyr- saccharidoses (MPS).
idoxine-responsive form of the disease. Early hypophosphatasia Disease category: Skeletal
treatment with pyridoxine in responsive cases dysplasia. Clinical features: A disorder of cal-
may allow typical intelligence. Treatment with cium and phosphate metabolism with symp-
above agents significantly reduces risk of vas- toms ranging from a severe infantile form
cular events. (which can be rapidly fatal) to a relatively
References: Elsaid, M.F., Bener, A., Lindner, mild childhood form. A total of 6 forms of
M., Alzyoud,M., Shahbek, N., Abdelrah- the disease have been described (perinatal
man, M.O. … Hoffmann G.F. (2007). Are lethal, perinatal benign, infantile, childhood,
heterozygotes for classical homocystinuria adult, and odontohypophosphatasia [dental
at risk of vitamin B12 and folic acid defi- only]). Features include short stature, bowed
ciency? Molecular Genetics and Metabolism, long bones, craniosynostosis, hypocalcemia.
92(1–2), 100–103. Associated complications: Seizures, multiple
Skovby, F., Gaustadnes, M., & Mudd, S.H. fractures, premature loss of teeth. The peri-
(2010). A revisit to the natural history natal lethal form presents as short limbs and
776 Simpson
poor ossification of the skeleton, and affected Jessup, C.J., Morgan, S.C., Cohen, L.M.,
infants usually die from pulmonary insuf- & Viders, D.E. (2009). Incontinentia pig-
ficiency. The benign perinatal form is usu- menti: Treatment of IP with topical tacroli-
ally identified by prenatal ultrasound but the mus. Journal of Drugs in Dermatology, 8(10),
skeletal manifestations slowly resolve with an 944–946.
eventual phenotype similar to the childhood O’Doherty, M., Mc Creery, K., Green, A.J.,
or adult types. The childhood form presents Tuwir, I., & Brosnahan, D. (2011). Incon-
with an early loss of secondary teeth, short tinentia pigmenti—opthalmological obser-
stature, and delayed walking with a waddling vation of a series of cases and review of the
gait. Joint pain and nonprogressive muscle literature. British Journal of Ophthalmology,
weakness may also be present and the features 95(1), 11–16.
resemble rickets. Cause: Mutations in the “tis- infantile Refsum disease See Refsum dis-
sue nonspecific” alkaline phosphatase gene ease, infantile.
(ALPL) on chromosome 1p36. Inheritance: isovaleric acidemia Disease category: Inborn
AR (severe forms), AR/AD (milder forms). error of metabolism: organic acidemia. Clini-
Incidence: 1:100,000; incidence of severe cal features: A disorder of organic acid metab-
infantile form is 1:250 in Mennonite families olism; an acute, often fatal neonatal form is
from Manitoba, Canada. characterized by acidosis and coma; a chronic
References: Fauvert, D., Brun-Heath, I., Lia- form presents with recurrent attacks of ataxia,
Baldini, A.S., Bellazi, L., Taillandier, A., vomiting, lethargy, and ketoacidosis. Attacks
Serre, J.L. … Mornet, E. (2009). Mild are generally triggered by infection or
forms of hypophosphatasia mostly result increased protein load. Urine smell of sweaty
from dominant negative effect of severe feet is characteristic. Associated complications:
alleles or from compound heterozygosity Seizures, intellectual disability if untreated,
for severe and moderate alleles. BMC Medi- enlarged liver, vomiting, hematologic abnor-
cal Genetics, 10, 51. malities. Cause: Deficiency of the enzyme
Mornet, E. (2008). Hypophosphatasia. Best isovaleryl-CoA dehydrogenase; gene linked
Practice and Research: Clinical Rheumatology, to chromosome 15q14–q15. Inheritance: AR.
22(1), 113–27. Prevalence: Rare. Treatment: Treatment con-
Zanki, A., Mornet, E., & Wong, S. (2008). sisting of a low-protein diet with supplemen-
Specific ultrasonographic features of peri- tal oral glycine and carnitine has resulted in a
natal lethal hypophophatasia. American relatively good cognitive outcome.
Journal of Medical Genetics A, 146A(9), References: Berry, G.T., Yudkoff, M., & Segal,
1200–4. S. (1988). Isovaleric acidemia: Medical and
incontinentia pigmenti Disease category: Der- neurodevelopmental effects of long-term
matologic disorder. Clinical features: Swirling therapy. Journal of Pediatrics, 113, 58–64.
patterns of hyperpigmented skin lesions; tooth Loots, D.T., Mienie, L.J., & Erasmus, E.
abnormalities; microcephaly; ocular abnor- (2007). Amino acid depletion induced by
malities; thin, wiry hair; hairless lesions, intel- abnormal amino-acid conjugation and pro-
lectual disability in approximately one third tein restriction in isovaleric academia. Euro-
of cases. Associated complications: Spasticity, sei- pean Journal of Clinical Nutrition, 61(11),
zures, vertebral or rib abnormalities; strabis- 1323–1327.
mus, hydrocephalus, history of male miscar- Vockley, J., & Ensenauer, R. (2006). Isova-
riages. Cause: Mutations in IKBKG (previously leric academia: New aspect of genetic and
NEMO) gene on chromosome Xq28, skewed phenotypic heterogeneity. American Journal
X-inactivation. A deletion of exons 4-10 is of Medical Genetics C: Seminars in Medical
present in about 80% of affected individuals. Genetics, 142C(2), 95–103.
Inheritance: XLD with lethality in males. Liv- Joubert syndrome Disease category: Multiple
ing affected males have been found with 47, congenital anomalies. Clinical features: Struc-
XXY karyotype or somatic mosaicism. Preva- tural cerebellar abnormalities (“molar tooth
lence: Rare. sign” on MRI), hypotonia in infancy which
References: Fusco, F., Pescatore, A., Bal, E., develops into ataxia, abnormal eye move-
Ghoul, A., Paciolla, M., Lioi, M.B. … ments, retinal dysplasia or coloboma, abnor-
Ursini, M.V. (2008). Alterations of the mal breathing pattern, developmental delay/
IKBKG locus and diseases: An update and a intellectual disability and behavioral prob-
report of 13 novel mutations. Human Muta- lems; characteristic facial appearance includ-
tion, 29(5), 595–604. ing large head, prominent forehead, ptosis,
epicanthal folds, upturned nose, tongue pro- Braddock, S.R. … Allanson, J.E. (2005).
trusion. Associated complications: Retinal dystro- Further delineation of Kabuki syndrome in
phy, renal disease, ocular colobomas, occipital 48 well defined new individuals. American
encephalocele, hepatic fibrosis, polydactyly, Journal of Medical Genetics, 132, 265–272.
oral hamartomas, and endocrine abnormali- Ng, S., Bigham, A.W., Buckingham, K.J.,
ties. Cognitive abilities range from moderate Hannibal, M.C., McMillin, M.J., Gilder-
to severe intellectual disability. Cause: Joubert sleeve, H.I. … Shendure, J. (2010). Exome
syndrome has been linked to multiple different sequencing identifies MLL2 mutations as a
genes: INPP5E gene on chromosome 9q34.3, cause of Kabuki syndrome. Nature Genetics,
TMEM216 gene on chromosome 11q13, AHI1 9, 790–793.
gene on chromosome 6q23, NPHP1 gene on Sanz, J.H., Lipkin, P., Rosenbaum, K., &
chromosome 2q13, CEP290 gene, also called Mahone, E.M. (2010). Developmental
NPHP6 on chromosome 12q21.32, TMEM67 profile and trajectory of neuropsychologi-
gene on chromosome 8q21, RPGRIP1L gene cal skills in a child with Kabuki syndrome:
on chromosome 16q12.2, ARL13B on chro- Implications for assessment of syndromes
mosome 3q11.2, CC2D2A gene on chromo- associated with intellectual disability. Clini-
some 4p15.3, and CXORF5 gene on chro- cal Neuropsychology, 24(7), 1181–1192.
mosome Xp22.3 Inheritance: AR or XLR. Kearns-Sayre syndrome Clinical features:
Prevalence: Rare. Short stature, progressive external ophthal-
References: Coene, K.L. (2009). OFD1 is moplegia, retinitis pigmentosa, heart block,
mutated in X-linked Joubert syndrome and cerebellar ataxia. Associated complications:
interacts with LCA5-encoded lebercilin. Visual impairment, hearing loss, myopathy,
American Journal of Human Genetics, 85(4), endocrine abnormalities, diabetes mellitus,
465–81. dementia. Cause: Deletions in mtDNA (90%
Edvardson, S., Shaag, A., Zenvirt, S., have a 2–10kb mtDNA deletion) Inheritance:
Erlich, Y., Hannon, G.J., Shanske, A.L. Maternal, through mtDNA.
… Elpeleg, O. (2010). Joubert syndrome kinky hair syndrome See Menkes syndrome.
2 (JBTS2) in Ashkenazi Jews is associated Klinefelter syndrome (XXY syndrome) Dis-
with a TMEM216 mutation. American ease category: Chromosomal abnormality. Clini-
Journal of Human Genetics, 86(1), 93–97. cal features: Occurring only in males; tall, slim
juvenile neuronal ceroid lipofuscinosis See stature; long limbs; relatively small penis and
Batten disease. testes; gynecomastia (breast enlargement) in
Kabuki syndrome Disease category: Multiple 40%. Associated complications: Intention tremor
congenital anomalies. Clinical features: Micro- (involuntary trembling arising when attempt-
cephaly, trapezoid philtrum (area between ing a voluntary, coordinated movement) in
base of nose and upper lip), prominent pos- 20%–50%, low to average intelligence, infer-
teriorly rotated ears, preauricular pit (small tility, behavioral disorders, scoliosis, osteo-
hole/indentation on the ear), long palpebral porosis and reduced muscle strength, vascu-
fissures, thick eyelashes, ptosis, sparse broad lar problems; 8% have diabetes mellitus as
arched eyebrows, congenital heart defect, adults, risk of extragonadal mid-line germ cell
hirsutism (excessive hair), café au lait spots, tumors. Patients may appear to have no physi-
cryptorchidism, small penis, hypotonia, joint cal changes prior to puberty with the excep-
hyperextensibility. Associated complications: tion of long legs. Cause: Chromosomal non-
Cleft palate, recurrent ear infections, hearing disjunction resulting in 47, XXY karyotype.
loss, aspiration pneumonia, feeding difficul- Inheritance: NM caused by the presence of an
ties, malabsorption, anal stenosis, imperforate additional X chromosome; about 50% of cases
anus, scoliosis, congenital hip dislocation, caused by maternal non-disjunction (error in
increased susceptibility to infections, seizures, the separation of chromosomes), while 50%
intellectual disability, premature thearche are caused by paternal nondisjunction. Preva-
(breast development), hemolytic anemia, con- lence: 1:500 males. Treatment: Hormone treat-
genital hypothyroidism. Cause: Mutations in ment is needed in adolescence for the develop-
the MLL2 gene on chromosome 12q12-q14 ment of secondary sex characteristics.
(78% pick-up rate). Inheritance: NM with AD References: Geschwind, D.H., Boone, K.B.,
inheritance when passed on from an affected Miller, B.L., & Swerdloff, R.S. (2000). Neu-
individual. Prevalence: Rare. robehavioral phenotype of Klinefelter syn-
References: Armstrong, L., Abd El Moneim, drome. Mental Retardation and Developmental
A., Aleck, K., Aughton, D.J., Baumann, C., Disabilities Research Reviews, 6, 107–116.
778 Simpson
Giltay, J.C., & Maiburg, M.C. (2010). Kline- A.A., Shen, P.H., Driscoll, D.J., & Wang,
felter syndrome: Clinical and molecular Q.K. (2008). Identification of association
aspects. Expert Review in Molecular Diagno- of common AGGF1 variants with suscep-
sis, 10(6), 765–76. tibility for Klippel-Trenanunay syndrome
Klippel-Feil syndrome Disease category: Multi- using the Structure Association Program.
ple congenital anomalies. Clinical features: Cer- Annals of Human Genetics, 72(5), 636–643.
vical vertebral fusion, hemivertebrae (incom- Tian, X.L., Kadaba, R., You, S.A., Liu, M.,
plete development of one side of one or more Timur, A.A., Yang, L. … Wang, Q. (2004).
vertebrae). Associated complications: Congenital Identification of an angiogenic factor that
scoliosis, torticollis (wry neck), low hairline; when mutated causes susceptibility to
sacral agenesis (absence of tailbone), hearing Klippel-Trenaunay syndrome. Nature, 427,
loss, occasional congenital heart defect, extra, 640–644.
fused, or missing ribs, middle-ear abnormali- Krabbe disease (globoid cell leukodystro-
ties, genitourinary abnormalities, pain. Cause: phy) Disease category: Progressive neuro-
Subgroup has been linked to the GDF6 gene logic disorder. Clinical features: In the classic
on chromosome 8q22.2. Inheritance: AD with form, symptoms begin at 4–6 months of age
variable expressivity and reduced penetrance with irritability, progressive stiffness, optic
most common; AR and nongenetic causes atrophy, cognitive deterioration, and early
have been reported. Incidence: Approximately death, often before age 2. Approximately
1:40,000, with a slight female predominance. 10%–15% of cases have onset of symptoms
References: Tassabehji, M., Fang, Z.M., Hil- between 6 months and 17 years of age, and
ton, E.N., McGaughran, J., Zhao, Z., de have slower disease progression. Associated
Bock, C.E. … Clarke, R.A. (2008). Muta- complications: Hypertonicity, opisthotonos
tion sin GDF6 are associated with verte- (back arching), visual and hearing impair-
bral segmentation defects in Klippe-Feil ment, episodic unexplained fevers, seizures;
syndrome. Human Mutations, 29(8), 1017– peripheral neuropathy. Cause: Deficiency of
1027. the galactocerebrosidase enzyme resulting
Tracy, M.R., Dormans, J.P., & Kusumi, K. from a mutation in the GALC gene on chro-
(2004). Klippel-Feil syndrome: Clini- mosome 14q24.3–q32.1. Inheritance: AR.
cal features and current understanding of Incidence: 1:100,000; may be increased in spe-
etiology. Clinical Orthopaedics and Related cific populations such as the Druze kindred
Research, 424, 183–190. in Israel (carrier frequency of 1:6). Treat-
Klippel-Trenauny-Weber syndrome Dis- ment: Hematopoietic stem cell transplanta-
ease category: Multiple congenital anomalies. tion has been performed in a small number
Clinical features: Asymmetric hypertrophy of of patients, but success is unclear.
limb, face (lips, cheeks, tongue, teeth) or other References: Kemper, A., Knapp, A.A., Green,
body parts, hemangiomas (benign congenital N.S., Comeau, A.M., Metterville, D.R., &
tumors made up of newly formed blood ves- Perrin, J.M. (2010). Weighing the evidence
sels), arteriovenous fistulas. Associated complica- for newborn screening for early-infantile
tions: Dependent on the area of hypertrophy; Krabbe disease. Genetics in Medicine, 12(9),
complications may affect any organ/body part 539–543.
including spinal cord (resulting in weakness or Sakai, N. (2009). Pathogenesis of leuko-
paralysis), kidneys (renal obstruction), brain dystrophy of Krabbe disease: Molecular
(intracranial hypertension). Cause: Linked to mechanism and clinical treatment. Brain
the VG5Q (AGGF1) gene at 5q13.3. Inheri- and Development, 31, 485–487.
tance: Believed to pass as an AD trait, where Siddiqi, Z.A., Sanders, D.B., & Massey, J.M.
individuals are not affected unless a second, (2006). Peripheral neuropathy in Krabbe
somatic (mutation arising after fertilization) disease: Effect of hematopoietic stem cell
occurs. Prevalence: Unknown. transplantation. Neurology, 67, 268–272.
References: Ceballos-Quintal, J.M., Pinto- Landau-Kleffner syndrome (LKS) Disease
Escalante, D., & Castillo-Zapata, I. (1996). category: Neurologic. Clinical features: Selec-
A new case of Klippel-Trenaunay-Weber tive aphasia (loss of speech), regression in
(KTW) syndrome: Evidence of autosomal receptive and/or expressive language ability,
dominant inheritance. American Journal of with some recovery in older children, sei-
Medical Genetics, 63, 426–427. zures (80% of patients), paroxysmal electro-
Hu, Y., Li, L., Seidelmann, S.B., Timur, encephalogram, electrical status epilepticus
in slow-wave sleep with or without clini- Clinical features: An inborn error of purine
cal seizures. Associated complications: Behav- metabolism associated with elevated levels of
ioral disturbances similar to those in autism. uric acid in blood and urine. Affected males
Males more frequently affected than females. appear symptom free at birth but then present
The younger the age of onset, the worse the with hypotonia and developmental delay dur-
prognosis for possibility of recovery. Cause: ing the first year. Dystonia (abnormal move-
Unknown. Inheritance: Possibly AR. Preva- ments) and spasticity develop, accompanied
lence: Unknown; at least 170 children have by severe involuntary self-injurious behavior,
been reported in the medical literature with including biting of fingers, arms, and lips.
approximately 1:440 children with epilepsy Associated complications: Cognitive impair-
being diagnosed with LKS; predominance of ment, seizures in 50%, hematuria (blood in
affected males. Treatment: Treatment of sei- urine), kidney stones, and ultimate kidney
zures with antiepileptic medications. See also failure without treatment. Cause: Defect in
Chapter 27. enzyme hypoxanthine-guanine phosphori-
References: Billard, C., Fluss, J., & Pinton, F. bosyl transferase caused by a mutation in the
(2009). Specific language impairment ver- HPRT gene on Xq26–q27.2. Inheritance: XLR.
sus Landau-Kleffner syndrome. Epilepsia, Affected females with skewed X-inactivation
50(7), 21–24. have been reported. Carrier females are typi-
Duran, M.H., Guimarães, C.A., Medeiros, cally unaffected although some have increased
L.L., & Guerreiro, M.M. (2009). Landau- uric acid excretion. Prevalence: 1:380,000.
Kleffner syndrome: Long-term follow-up. Treatment: Allopurinol is useful in prevent-
Brain and Development, 31(1), 58–63. ing kidney and joint deposition of uric acid.
McVicar, K.A., & Shinnar, S. (2004). Landau- Spasticity is treated with Baclofen or benzo-
Kleffner syndrome, electrical status epi- diazepines. Numerous medications have been
lepticus in slow wave sleep, and language used in management of self-injurious behav-
regression in children. Mental Retarda- ior without much success.
tion and Developmental Disabilities Research References: Ceballos-Picot, I., Mockel, L.,
Reviews, 10, 144–149. Potier, M.C., Dauphinot, L., Shirley, T.L.,
Laurence-Moon-Bardet-Biedl syndrome See Torero-Ibad, R. … Jinnah, H.A. (2009).
Bardet-Biedl syndrome. Hypoxanthine-guanine phosphoribosyl
Leber hereditary optic neuropathy (Leb- transferase regulates early developmental
er’s congenital amaurosis, LHON) programming of dopamine neurons: Impli-
Clinical features: Bilateral central vision loss. cations for Lesch-Nyhan disease patho-
Associated complications: Occasionally seen genesis. Human Molecular Genetics, 18(13),
with multiple sclerosis, dystonia, or move- 2317–2327.
ment disorder. Cause: Primarily associated Schretlen, D.J., Ward, J., Meyer, S.M., Yun,
with point mutations in mtDNA. Inheritance: J., Puig, J.G., Nyhan, W.L. … Harris, J.C.
Maternal, through mtDNA. Males are more (2005). Behavioral aspects of Lesch-Nyhan
commonly affected. disease and its variants. Developmental Medi-
Leber’s congenital amaurosis See mito- cine and Child Neurology, 47(10), 673–677.
chondrial disorders. lissencephaly syndromes (e.g., Miller-
Leigh syndrome (subacute necrotizing enceph- Dieker syndrome) Disease category: Mal-
alomyopathy) Clinical features: Encephalopa- formation. Clinical features: A group of disor-
thy, ophthalmoplegia, optic atrophy, myopathy. ders characterized by lissencephaly (smooth
Associated complications: Developmental delay brain) in which Miller-Dieker syndrome is
and regression, ataxia, spasticity, hypertrophic the prototype; lissencephaly syndromes can
cardiomyopathy, early death. Onset usually be divided into subgroups based on features.
between 3 and 12 months of age, often after a Classical lissencephaly (formerly lissenceph-
viral infection. Cause: Mutations in many differ- aly type I), the most common form, is defined
ent nuclear and mitochondrial genes involved in by the presence of a very thick cortex and
energy metabolism including respiratory chain subcortical band heterotopia, whereas other
complexes I, II, III, IV, and V as well as tRNA types of lissencephaly present with other
proteins, and pyruvate deydrogenase complex. brain malformations, including agenesis of
Inheritance: Maternal, AR, XLR. the corpus callosum and severe cerebellar
Lennox-Gastaut syndrome See Chapter 27. hypoplasia. Features include agyria or pachy-
Lesch-Nyhan syndrome Disease category: gyria (absent or decreased cerebral convo-
Inborn error of metabolism: nucleic acid. lutions, respectively), progressive spasticity,
780 Simpson
microcephaly; characteristic facial appearance Cau, M. (2007). A novel interstitial dele-

with short nose, broad nasal bridge, upturned tion in Xq25, identified by array-CGH in
nose, hypertelorism, prominent upper lip, a patient with Lowe syndrome. European
malformed or malpositioned ears. Associated Journal of Medical Genetics, 50(1), 79–84.
complications: Intellectual disability, infantile Bockenhauer, D., Bokenkamp, A., van’t Hoff,
spasms, late tooth eruption, poor weight gain, W., Levtchenko, E., Kist-van Holthe, J.E.,
dysphagia (swallowing difficulty), congenital Tasic, V., & Ludwig, M. (2008). Renal
heart defect, intestinal atresia (congenital clo- phenotype in Lowe syndrome: A selec-
sure). Cause: Six genes have been defined to tive proximal tubular dysfunction. Clinical
date that cause lissencephaly: LIS1 (on chro- Journal of the American Society of Nephrology,
mosome 17p13.3), 14-3-3 epsilon (on chro- 3(5), 1430–1436.
mosome 17p13.3), DCX (on chromosome mandibulofacial dysostosis See Treacher
Xq22.3), RELN (on chromosome 7q22), and Collins syndrome.
ARX (on chromosome Xp22.13), TUBA1A maple syrup urine disease (MSUD) Disease
(on chromosome 12q12-q14); a deletion of category: Inborn error of metabolism: amino
one copy (haploinsufficiency) of any of the acid. Clinical features: A disorder of branched
above genes is sufficient to cause one of the chain amino acid metabolism with four iden-
lissencephaly syndromes. Inheritance: NM tified clinical variants (classic, intermittent,
with AD inheritance when passed from an intermediate, and thiamine-responsive); the
affected individual, or XLR (males are typi- classic form comprises 75% of cases and is
cally affected while females have milder phe- characterized by a maple syrup odor in the
notype); possibly increased recurrence risk cerumen and urine from birth to 7 days of
if one parent has a balanced chromosomal age, severe opisthotonos (spasm with body
translocation of chromosome 17p. Prevalence: in a bowed position and head and heels
Rare. bent backward), hypertonia, hypoglycemia,
References: Haverfield, E, Whited, A.J., Petras, lethargy, and respiratory difficulties. Symp-
K.S., Dobyns, W.B., Das, S. (2009). Intra- toms appear within the first 48 hours of life;
genic deletions and duplications of the LIS1 if untreated, it is most often fatal within 1
and DCX genes: A major disease-causing month. Untreated survivors have severe
mechanism in lissencephaly and subcorti- intellectual disability and spasticity. The
cal band heterotopia. European Journal of intermittent form presents with periods of
Human Genetics, 17, 911–918. ataxia, behavior disturbances, drowsiness, and
Wynshaw-Boris, A. (2007). Lissencephaly and seizures. Attacks are triggered by infections,
LIS1: Insights into the molecular mecha- excessive protein intake, or other physiologi-
nisms of neuronal migration and develop- cal stresses. Individuals with the intermediate
ment. Clinical Genetics, 72(4), 296–304. form usually demonstrate mild to moderate
Lowe syndrome (oculocerebrorenal syn- intellectual disability. Associated complications:
drome) Disease category: Multiple congeni- Acidosis, hypoglycemia, growth retardation,
tal anomalies. Clinical features: Bilateral cata- feeding problems; acute episodes are charac-
racts at birth, hypotonia, absent deep tendon terized by muscle fatigue, vomiting, impaired
reflexes, kidney dysfunction (proximal renal cognitive ability, hyperactivity, sleep distur-
tubular dysfunction), dysmorphic facies. Asso- bance, hallucinations, dystonia, and ataxia.
ciated complications: Poor weight gain, short Cause: Deficiency in branched chain alpha-
stature, vitamin D-resistant rickets, seizures, ketoacid dehydrogenase caused by mutations
visual impairment (corrected acuity is usu- in the genes (at chromosomal locations 1p31,
ally 20/100), glaucoma, intellectual disabil- 6p22–p21, and 19q13.1–q13.2) making up
ity in 75%, behavioral problems, intention this enzyme complex: BCKDHA, BCKDHB
tremor, craniosynostosis, peripheral neuropa- and DBT. Prevalence: 1:185,000; increased
thy (damage to nerves). Female carriers have prevalence in Mennonite population with an
characteristic findings in the lens (opacities) incidence of 1:380. Inheritance: AR. Treatment:
of each eye. Cause: Abnormal inositol phos- High-calorie diet with restriction of leucine,
phate metabolism caused by mutations in the supplementation with isoleucine and valine.
OCRL1 gene on chromosome Xq26.1. Inheri- If instituted early (within 2 weeks of birth),
tance: XLR with one third of cases being NM. the prognosis is good for typical intelligence.
Prevalence: 1:100,000. Thiamine is used in the thiamine-responsive
References: Addis, M., Meloni, C., Congiu, R., form. Orthotopic liver transplantation is
Santaniello, S., Emma, F., Zuffardi, O. … effective for classic MSUD.
References: Puckett, R.L., Lorey, F., Rinaldo, replacement of bone marrow with fibrous
P., Lipson, M.H., Matern, D., Sowa, M.E. tissue, producing pain and increasing defor-
… Abdenur, J.E. (2010). Maple syrup urine mity), bowing of long bones, premature
disease: Further evidence that newborn onset of puberty; advanced bone age. Associ-
screening may fail to identify variant forms. ated complications: Hearing or visual impair-
Molecular Genetics and Metabolism, 100(2), ment, hyperthyroidism, hyperparathyroid-
136–142. ism (increased activity of the parathyroid
Shellmer, D.A., et al. (2011). Cognitive and gland, which controls calcium metabolism),
adaptive functioning after liver transplan- abnormal adrenal function, increased risk of
tation for maple syrup urine disease: A malignancy, occasional spinal cord anomalies.
case series. Pediatric Transplantation, 15(1), Cause: Postmitotic mutation in the GNAS1
58–64. gene (causing a defect in the enzyme adenyl
Zinnanti, W.J., Lazovic, J., Griffin, K., cyclase) localized to 20q13. Inheritance: NM
Skvorak, K.J., Paul, H.S., Homanics, G.E. arising after fertilization (somatic mosaic) will
… Flanagan, J.M. (2009). Dual mechanism be passed in an AD fashion if reproductive
of brain injury and novel treatment strategy organs involved; theoretically lethal unless
in maple syrup urine disease. Brain, 132(4), present in the mosaic form. Testing: Muta-
903–918. tions in the GNAS1 gene were only present
Marfan syndrome Disease category: Con- in 46% of patients presenting with the clas-
nective tissue disorder. Clinical features: Tall, sic triad. Other tissue types may need to be
thin body, upward dislocation of ocular lens, tested to confirm the presence of the com-
myopia, spiderlike limbs, hypermobile joints. mon mutation. Prevalence: Unknown.
Average intelligence expected, although References: Chapurlat, R.D., & Orcel, P.
learning disabilities have been reported in up (2008). Fibrous dysplasia of bone and
to 50% of children. Associated complications: McCune-Albright syndrome. Best Practice
Aortic dilatation or dissection, congestive and Research: Clinical Rheumatology, 22(1),
heart failure, mitral valve prolapse, emphy- 55–69.
sema, sleep apnea, and scoliosis. Cause: Muta- Lietman, S.A., Schwindinger, W.F., & Levine,
tion in the fibrillin (FBN-1) gene located on M.A. (2007). Genetic and molecular aspects
chromosome 15q15–q21.3. Inheritance: AD of McCune-Albright syndrome. Pediatric
with wide clinical variability. Prevalence: Esti- Endocrinology Reviews, 4(4), 380–385.
mated to be about 1:5,000. Treatment: Use MELAS (mitochondrial myopathy, encepha-
of Losartan, an angiotensin II type 1 recep- lopathy, lactic acidosis, and stroke-like
tor blocker has been shown to prevent aortic episodes) See mitochondrial disorders.
aneurysm through the inhibition of trans- Menkes syndrome (kinky hair syndrome)
forming growth factor beta in mice. Doxycy- Disease category: Inborn error of metabolism:
cline has also been shown to normalize aortic copper. Clinical features: An inborn error of
vasomotor function and suppress aneurysm copper metabolism presenting at age 1–2
growth. Trials continue with both of these months with “steely” texture of hair and char-
medications. acteristic face with pudgy cheeks. Associated
References: Dean, J.C. (2007). Marfan syn- complications: Seizures, feeding difficulties,
drome: Clinical diagnosis and manage- severe intellectual disability, recurrent infec-
ment. European Journal of Human Genetics, tions, visual loss, bony abnormalities with
15(7), 724–733. tendency toward easy fracture, thrombosis,
Hilhorst-Hofstee, Y., Hamel, B.C., Verheij, early death. Cause: Copper deficiency from
J.B., Rijlaarsdam, M.E., Mancini, G.M., decreased absorption and/or missing enzymes
Cobben, J.M. … Pals, G. (2011). The clini- caused by mutations in the adenosine triphos-
cal spectrum of complete FBN1 allele dele- phatase ATP7A gene at Xq13. Inheritance:
tions. European Journal of Human Genetics, XLR. Prevalence: 1:100,000. Treatment: Treat-
19(3), 247–252. ment with copper-histidine has been found to
Maroteaux-Lamy syndrome (MPS VI) See prevent neurological deterioration when pro-
mucopolysaccharidoses. vided before the age of 2 months. Treatment
McCune-Albright syndrome (polyostotic provided after 2 months of age cannot pre-
fibrous dysplasia) Disease category: Endo- vent neurologic, connective tissue, or bone
crine disorder. Clinical features: Large café- complications.
au-lait spots with irregular borders; fibrous References: Kaler, S.G., Holmes, C.S., Gold-
dysplasia of bones (thinning of the bone with stein, D.S., Tang, J., Godwin, S.C., Donsante,
782 Simpson
A. … Patronas, N. (2008). Neonatal diagnosis leukodystrophy. Journal of Inherited Metabolic

and treatment of Menkes disease. New Eng- Disease, doi: 10.1007/s10545-010-9240-1
land Journal of Medicine, 358, 605–614. methylmalonic aciduria Disease category:
Kaler, S.G., Liew, C.J., Donsante, A., Hicks, Inborn error of metabolism: organic acidemia.
J.D., Sato, S., & Greenfield, J.C. (2010). Clinical features: An organic acidemia with mul-
Molecular correlates of epilepsy in early tiple subtypes. In the infantile/non-B12 respon-
diagnosed and treated Menkes disease. sive phenotype (most common form), infants
Journal of Inherited Metabolic Disease, 33(5), are normal at birth but then develop lethargy,
583–589. vomiting, dehydration, hepatomegaly, hypoto-
MERRF (myoclonic epilepsy with ragged nia and encephalopathy. There is a rarer inter-
red fibers) See mitochondrial disorders. mediate B12-responsive type, which presents
metachromatic leukodystrophy (Arylsulfa- in the first few months to years with anorexia,
tase A deficiency) Disease category: Inborn poor weight gain, hypotonia and developmen-
error of metabolism: lysosomal storage disor- tal delay. The atypical/benign adult subtype
der. Clinical features: One of a group of lyso- is associated with increased urinary excretion
somal storage disorders in which lysosomes, of methylmalonic acid but they may remain
the cell structures that digest toxic materials, asymptomatic. Associated complications: Variable
are missing a necessary enzyme; the result- developmental delay, renal failure, metabolic
ing accumulation of toxins leads to varying stroke affecting the basal ganglia, movement
degrees of progressive neurological impair- disorder with choreoathetosis, dystonia, para/
ment, ranging from unsteady gait to severe quadriparesis, pancreatitis, growth failure,
rigidity and choreoathetosis. Muscle weak- immune dysfunction, and optic nerve atro-
ness and ataxia are common. Onset of the phy. Cause: Isolated methylmalonic aciduria
infantile form is by age 2 years and usually is found in patients with mutations in the
results in death by age 5 (50%–60% of cases). MUT gene (6p21) causing partial, mut(-), or
The juvenile form generally begins between complete, mut(0), enzyme deficiency. This
4 and 10 years of age, is rarer (20%–30% of form is unresponsive to B12 therapy. Various
cases), and progresses more slowly. Two dis- forms of isolated methylmalonic aciduria also
tinct adult onset forms exist, one presenting occur in a subset of patients with defects in the
with neurologic/motor involvement and the synthesis of the MUT coenzyme adenosylco-
other with behavioral abnormalities. Associ- balamin (AdoCbl) and are classified according
ated complications: Seizures, abdominal disten- to complementation group: cblA, caused by
sion, mental deterioration. Cause: Mutations mutation in the MMAA gene (4q31.1-q31.2),
in the arylsulfatase A (ASA) gene on chromo- and cblB, caused by mutation in the MMAB
some 22q cause ASA enzyme deficiency and gene (12q24). Combined methylmalonic
result in the accumulation of sphingolipid aciduria and homocystinuria may be seen in
sulfatide. Inheritance: AR. Prevalence: 1:40,000 complementation groups cblC, cblD, and
in Sweden; rarer elsewhere. Treatment: Bone cblF. Inheritance: AR. Prevalence: 1:50,000–
marrow transplantation may have beneficial 1:100,000. Treatment: Treatment consists of a
effects on some tissues types but does not low-protein, high calorie diet and supplemen-
affect lipid storage in the brain. tal hydroxycobalamin (B12) injections in those
References: Gieselmann, V., & Krageloh- who have a B12-responsive form; carnitine is
Mann, I., & Krägeloh-Mann, I. (2010). also given. Liver and liver/kidney transplant
Metachromatic leukodystrophy—an has been performed to avoid continual dam-
update. Neuropediatricsm 41(1), 1–6. age to the kidneys, and some success has been
Mahmood, A., Berry, J., Wenger, D.A., reported.
Escolar, M., Sobeih, M., Raymond, G., & References: Hauser, N.S., Manoli, I., Graf,
Eichler, F.S. (2010). Metachromatic leuko- J.C., Sloan, J,. & Venditti, C.P. (2011). Vari-
dystrophy: A case of triplets with the late able dietary management of methylmalonic
infantile variant and a systematic review of acidemia: Metabolic and energetic correla-
the literature. Journal of Child Neurology, tions. American Journal of Clinical Nutrition,
25(5), 572–580. 93(1), 47–56.
Smith, N.J., Marcus, R.E., Sahakian, B.J., Lee, N.C., Chien, Y.H., Peng, S.F., Huang,
Kapur, N., & Cox, T.M. (2010). Haemato- A.C., Liu, T.T., Wu, A.S. … Hwu, W.L.
poietic stem cell transplantation does not (2008). Brain damage by mild metabolic
retard disease progression in the psycho-cog- derangements in methylmalonic acidemia.
nitive variant of late-onset metachromatic Pediatric Neurology, 39(5), 325–329.
Morioka, D., Kasahara, M., Horikawa, R., headaches, seizures, stroke-like episodes,
Yokoyama, S., Fukuda, A., & Nakagawa, A. encephalopathy (degenerative disease of the
(2007). Efficacy of living donor liver trans- brain), myopathy. Associated complications:
plantation for patients with methylmalonic Progressive hearing loss, cortical blind-
acidemia. American Journal of Transplanta- ness, ataxia, dementia, and lactic acidosis,
tion, 7(12), 2782–2787. recurrent vomiting, hemiparesis. Cause:
Miller-Dieker syndrome See lissencephaly A mutation in mtDNA encoding transfer
syndromes. RNA causes reduced mitochondrial protein
mitochondrial disorders (mitochondrial synthesis. Inheritance: Maternal, through
encephalopathies and myopathies) Dis- mtDNA.
ease category: Inborn error of metabolism/ MERRF (myoclonic epilepsy with ragged
mitochondrial disorders. Clinical features: red fibers) Clinical features: Myoclonic
This diverse group of disorders is linked by a epilepsy, ataxia, spasticity, myopathy. Asso-
common etiology: abnormal function of the ciated complications: Optic atrophy, sensori-
mitochondria (energy-producing intracel- neural hearing loss, peripheral neuropathy,
lular structures) or mitochondrial metabo- diabetes, cardiomyopathy, dementia, lipo-
lism. Mitochondrial disorders can affect every mas (fatty tumors); characteristic ragged
organ system. Common features include pto- red muscle fibers are seen on muscle biopsy
sis, external ophthalmoplegia (paralysis of the examination. Cause: Mutations in mtDNA
external eye muscles), myopathy, cardiomyop- encoding transfer RNA. Inheritance: Mater-
athy, short stature, and hypoparathyroidism. nal, through mtDNA.
Associated complications: Seizures, sensorineural Moebius sequence (congenital facial diple-
hearing loss, optic atrophy, retinitis pigmen- gia) Disease category: Multiple congenital
tosa (pigmentary changes in retina causing anomalies. Clinical features: Expressionless face
loss of peripheral vision and clumping of pig- and facial weakness (bilateral in 92% of cases
ment), cataracts, diabetes, migraine, intestinal and unilateral in 8%) due to palsies of the 6th,
pseudo-obstruction, reflux, renal problems, 7th, and occasionally 12th cranial nerves; occa-
exercise intolerance. Cause: Genes encod- sional abnormalities of fingers and legs; micro-
ing nuclear DNA and mitochondrial DNA gnathia; eye abnormalities including esotropia
(mtDNA) are known to cause mitochondrial (“cross-eyed”) and vision problems including
disorders. Mutations in different genes may myopia, astigmatism, and amblyopia; cranio-
cause the same symptoms. Inheritance: AR, facial malformations. Associated complications:
AD, NM, or may be inherited from the mother Feeding difficulties, oral motor dysfunction,
through mtDNA. Prevalence: 1:8,500 for all articulation disorder, occasional tracheal or
mitochondrial disorders combined. Treatment: laryngeal anomalies, gross and fine motor
Early diagnosis and treatment of diabetes, eye delay and dysfunction. Intellectual disability
abnormalities, and cardiac disease. Coenzyme in 10%–50%. Cause: Linked to chromosomes
Q10 and riboflavin have been used with some 13q12–q13 and 1p34. Inheritance: Not well
reported benefit. Six mitochondrial disorders characterized, most reported cases are SP, pos-
are discussed next. sibly due to a NM; rare reports of AR, AD
References: Chinnery P.F., Majamaa, K., Turn- and X linked cases with variable expressivity.
bull, D., & Thorburn, D. (2006). Treatment Prevalence: 1:50,000.
for mitochondrial disorders. Cochrane Data- References: Briegel, W. (2006). Neuropsychi-
base of Systematic Reviews, 1(CD004426). atric findings of Möbius sequence-a review.
doi: 10.1002/14651858.CD004426.pub2. Clinical Genetics, 70(2), 97–97.
DiMauro, S. (2004). Mitochondrial diseases. Cattaneo, L., Chierici, E., Bianchi, B., Ses-
Biochemica et Biophysica Acta, 1658, 80–88. enna, E., & Pavesi, G. (2006). The local-
Falk, M., & Sondheimer, N. (2010). Mito- ization of facial motor impairment in spo-
chondrial genetic diseases. Current Opinion radic Möbius syndrome. Neurology, 66(12),
in Pediatrics, 22(6), 711–716. 1907–1912.
Thornburn, D.R. (2004). Mitochondrial dis- Grazidadio, C., Lorenzen, M.B., Rosa, R.F.,
orders: Prevalence, myths, and advances. Pinto, L.L., Zen, P.R., Travi, G.M. …
Journal of Inherited Metabolic Disease, 27, Paskulin, G.A. (2010). New report of a
349–362. familial case of Moebius syndrome pre-
MELAS (mitochondrial myopathy, enceph- senting skeletal findings. American Journal
alopathy, lactic acidosis, and stroke- of Medical Genetics Part A, 152A(8), 2134–
like episodes) Clinical features: Migraine 2138.
784 Simpson
monosomy X See Turner syndrome. normal at birth but then gradual coarsen-
Morquio syndrome (MPS IV) See muco- ing of facial features in early childhood
polysaccharidoses. becomes apparent; they also have hypertri-
MSUD See maple syrup urine disease. chosis (excessive hair); large skull; organo-
mucopolysaccharidoses (MPS) Disease cat- megaly; prominent lips; corneal clouding;
egory: Inborn error of metabolism: lysosomal dysostosis (malformed bones); stiffening
storage disorder. Clinical features: Glycosami- of joints. There is progressive intellectual
noglycans accumulate within the lysosomes deterioration and spasticity and by age
in these seven distinguishable forms of the 3, growth typically stops. Death typically
disorder, each with two or more subgroups. occurs by age 10. The attenuated form is
Features shared by most include coarse facial characterized by hearing loss, cardiac valvu-
features, thick skin, hirsutism (excessive hair), lar disease, progressive restriction in range
corneal clouding, and organomegaly (enlarge- of motion with typical stature, typical intel-
ment of spleen and liver). Growth deficiency, ligence (although some may have learning
intellectual disability, cardiomyopathy, and disabilities), and survival into adulthood.
skeletal dysplasia are also seen. Intelligence Associated complications: Chronic ear infec-
is normal in MPS type IV (Morquio syn- tions, hearing loss, occasional hernia and
drome) and MPS type VI (Marataux-Lamy). cardiac valve changes, visual impairment,
Inheritance: All are AR except MPSII, Hunter brain cysts, airway obstruction. Cause:
syndrome which is XLR. The various MPS Deficiency of enzyme alpha-L-iduronidase
disorders are differentiated by their clinical caused by mutations in the iduronidase
features, enzymatic defects, genetic trans- gene on chromosome 4p16.3. Inheritance:
mission, and urinary mucopolysaccharide AR. Incidence: 1:100,000 for the severe form
pattern. Prevalence: Overall estimated to be and 1:500,000 for the attenuated form.
1: 22,500. MPS I (Hurler, Scheie, & Hurler- Treatment: Hematopoietic stem cell trans-
Scheie), MPS II (Hunter), and MPS III plantation (HSCT) in some severe MPS
(Sanfilippo) syndromes are discussed next. I patients can increase survival, improve
Others include MPS IV (Morquio), MPS VI facial coarseness and hepatosplenomegaly,
(Maroteaux-Lamy), and MPS VII (Sly) syn- improve hearing and maintain normal heart
dromes. function (but does not improve skeletal
References: Muenzer, J. (2004). The muco- manifestations or corneal clouding). HSCT
polysaccharidoses: A heterogeneous group may slow the course of cognitive decline
of disorders with variable pediatric presen- in those with mild impairment. Enzyme
tations. Journal of Pediatrics, 144, S27–S34. replacement therapy with Aldurazyme is
Neufeld, E.F., & Muenzer, J. (2001). The licensed for treatment of non-CNS mani-
mucopolysaccharidoses. In C.R. Scriver, festations of MPS I.
A.L. Beaudet, W.S. Sly, et al. (Eds.), The MPS II (Hunter syndrome) Clinical
metabolic and molecular bases of inherited features: Features include short stature;
disease (pp. 3421–3452). New York, NY: enlarged liver and spleen; coarsening of
McGraw-Hill. facial features, with hypertrichosis begin-
MPS I (Hurler syndrome, Scheie syn- ning in early childhood; hoarse voice. Intel-
drome, Hurler-Scheie syndrome) Due lectual disability is mild or absent in the
to the wide spectrum of clinical variability attenuated form of the disease; this sub-
seen in patients with MPS I, patients with type is compatible with survival to adult-
the mild form were originally thought to hood. The severe form is highlighted by
have a distinct disorder from those with progressive intellectual deterioration first
severe symptoms. The mild condition was noted between 2 and 3 years of age; death
called Scheie syndrome (previously called occurs before age 15 in most cases and is
MPS V), and the severe form of the disor- similar to severe MPS I, but with clear
der was previously called Hurler syndrome. corneas. Associated complications: Sensori-
Determination of a common enzyme defi- neural hearing loss, retinitis pigmentosa
ciency in both conditions led to the realiza- with visual loss, macrocephaly, stiffening
tion that these conditions represented the of joints, particularly those in the hands,
variable presentation of a single disease. cardiac valve disease, hernia; respiratory
They are now denoted as having severe insufficiency; chronic diarrhea, seizures.
MPS I or attenuated MPS I. Clinical fea- Cause: Deficiency of enzyme iduronate-
tures: Patients with the severe MPS I are 2-sulfatase caused by mutations in this
gene on chromosome Xq28. Inheritance: is feeding difficulty or respiratory distress.

XLR. Incidence: 1:100,000–1:170,000 male Associated complications: Intellectual disability,
births. Treatment: Minimal success has been hearing impairment, optic atrophy with visual
reported with bone marrow transplanta- impairment, recurrent infections, vomiting.
tion. Enzyme replacement therapy for MPS Cause: Mutations in HCLS causing enzyme
II is now available (Idursulfase/Elaprase). deficiencies of holocarboxylase synthetase, or
No information is yet available on the out- 3-methylcrotonyl-CoA carboxylase. Inheri-
come of using the drug for patients under tance: AR. Prevalence: Rare. Treatment: Oral
age 5 or who have severe pulmonary com- biotin supplementation. Prenatal treatment
promise or severe central nervous system with oral biotin corrects lethargy, hypotonia,
disease. Elaprase does not cross the blood- and vomiting.
brain barrier and thus it is not expected that References: Tammachote, R., Janklat, S.,
there would be any effect on CNS disease. Tongkobpetch, S., Suphapeetiporn, K., &
MPS III (Sanfilippo syndrome) Clinical Shotelersuk, V. (2010). Holocarboxylase
features: Four distinct types representing synthetase deficiency: Novel clinical and
four different enzyme defects with simi- molecular findings. Clinical Genetics, 78(1),
lar clinical features; clinical features pres- 88–93.
ent between 2 and 6 years in children who Van Hove, J.L., Josefsberg, S., Freehauf, C.,
otherwise appear typical. There is mild Thomas, J.A., Thuy le, P., Barshop, B.A. …
coarsening of facial features, coarse hair León-Del-Río, A. (2008). Management of
and hirsutism, absence of corneal clouding, a patient with holocarboxylase synthetase
mild enlargement of liver, joint stiffness, deficiency. Molecular Genetics and Metabo-
sleep disorders, and progressive mental lism, 95(4), 201–205.
deterioration. Deterioration is most rapid multiple carboxylase deficiency, late onset,
in type IIIA; death occurs by 10–20 years juvenile form (biotinidase deficiency)
in most cases. Associated complications: Severe Disease category: Inborn error of metabolism:
behavioral disturbances by age 4–6 years, cofactor deficiency. Clinical features: A disor-
dysostosis, diarrhea in 50%, progressive der characterized by varying degrees of intel-
spasticity and ataxia, precocious puberty, lectual disability, hypotonia, seizures (often
central breathing problems with advanc- infantile spasms), alopecia, skin rash, delayed
ing disease. Cause: Type IIIA: Deficiency myelination and lactic acidosis; the onset of
of enzyme heparan sulfatase caused by symptoms usually occurs between 2 weeks
mutations in sulfamidase gene on 17q25.3. and 2 years of age. Associated complications:
Type IIIB: Deficiency of enzyme alpha-N- Hearing and visual impairment, respiratory
acetylglucosaminidase caused by mutations difficulties and apnea, recurrent infections.
in the NAGLU gene on 17q21. Type IIIC: Cause: Defects in various enzymes for biotin
Deficiency of enzyme acetyl-CoA: alpha- transport or metabolism; genetic mutations
glucosaminide N-acetyltransferase caused have been identified in the biotinidase gene
by mutations in a gene linked to chromo- on chromosome 3p25 and the holocarboxyl-
some 14. Type IIID: Deficiency of enzyme ase synthetase gene on chromosome 21q22.1.
N-acetyl-alpha-glucosaminine-6sulfatase Inheritance: AR. Incidence: 1:60,000–1:140,000.
caused by mutations in the G6S gene linked Treatment: Supplementation with oral biotin;
to chromosome 12q14. Inheritance: AR. response is better if used early in the course
Incidence: 1:73,000–1:280,000. Treatment: of the disease.
Treatment is supportive only. Bone marrow References: Cowan, T.M., Blitzer, M.G., Wolf,
transplantation has not been successful. B. & Working Group of the American Col-
multiple acyl-CoA dehydrogenase defi- lege of Medical Genetics Laboratory Qual-
ciency See glutaric acidemia, type II. ity Assurance Committee. (2010). Technical
multiple carboxylase deficiency, infantile or standards and guidelines for the diagnosis
early form (holocarboxylase synthetase of biotinidase deficiency. Genetics in Medi-
deficiency) Disease category: Inborn error cine, 12(7), 464–470.
of metabolism: cofactor deficiency. Clini- Pindolia, K., Jordan, M., & Wolf, B. (2010).
cal features: Disorder of biotin metabolism Analysis of mutations causing biotinidase
characterized by seizures, hypotonia, leth- deficiency. Human Mutation, 31(9), 983–
argy, coma, skin rash, alopecia (loss of hair 991.
from skin areas where it is normally present), muscular dystrophy, Duchenne (DMD)
and acidosis. Often, the presenting feature and Becker (BMD) types Disease category:
786 Simpson
Neuromuscular disease. Clinical features: Pro- approaches, individuals with myasthenia can
gressive proximal muscular degeneration, lead quite typical lives.
muscle wasting, hypertrophy (enlargement) References: Mandawat, A. (2010). Compara-
of calves, cardiomyopathy; onset of symptoms tive analysis of therapeutic options used
in DMD occurs before 3 years. Loss of abil- for myasthenia gravis. Annals of Neurology.
ity to walk independently occurs by adoles- 68(6), 797–805.
cence in DMD. The onset in BMD is later, Jani-Acsadi, A., & Lisak, R.P., (2010). Myas-
and the progression is slower. Associated com- thenia gravis. Current Treatment Options in
plications: Congestive heart failure, scoliosis, Neurology, 12(3), 231–243.
flexion contractures, respiratory compromise, myotonic dystrophy (Steinert’s disease)
and intestinal motility dysfunction (caus- Disease category: Neuromuscular disease.
ing constipation); approximately one third of Clinical features: The most prominent fea-
boys with DMD have learning or intellec- ture is myotonia, a form of dystonia involv-
tual disabilities. Cause: Mutations in the gene ing increased muscular contractility com-
that encodes dystrophin localized to Xp21.1. bined with decreased power to release (e.g., a
Inheritance: XLR with one third of cases due to strong handshake with the inability to release
a NM. Incidence: DMD 1:3,500 male births; it). Other features include myopathy, dysar-
BMD 1:20,000 males. There are reports of thria, ptosis, and frontal balding. The age of
females with clinical features of DMD as onset varies from childhood to adulthood.
the result of X-chromosome rearrangements The congenital form is severe, with neonatal
involving the DMD locus because they have hypotonia, motor delay, intellectual disabil-
Turner syndrome (i.e., complete or partial ity, and facial muscle palsy. In the congenital
absence of an X chromosome) or nonrandom form, feeding difficulties and severe respira-
X-chromosome inactivation. Treatment: Glu- tory problems are common. Classic myotonia
cocorticosteroids have been shown to pro- does not begin until around 10 years of age.
long ambulation; prednisone has been shown Associated complications: Cataracts, cardiac con-
to improve strength and function. See also duction abnormalities, diabetes, and hypogo-
Chapter 13. nadism. Cause: Cytosine-thymine-guanine
References: Wingeier, K., Giger, E., Strozzi, (CTG) expansion mutations in the muscle
S., Kreis, R., Joncourt, F., Conrad, B. … protein kinase gene on chromosome 19q13.
Steinlin, M. (2010). Neuropsychological Severity varies with the number of CTG
impairments and the impact of dystrophin repeats. Unaffected people have 5–30 repeat
mutations on general cognitive function- copies. Those with the classical adult form
ing of patients with Duchenne muscular have more than 100 copies, and individuals
dystrophy. Journal of Clinical Neuroscience, with the congenital form usually have more
18(1), 90–95. than 2,000 copies. The correlation between
myasthenia gravis Disease category: Neuro- the number of repeats, severity, and age of
muscular disease. Clinical features: Proximal onset, however, is not always consistent. Myo-
muscle weakness, facial muscle weakness, dif- tonic dystrophy has also been associated with
ficulty chewing, ptosis, dysarthria, dyspha- CCTG repeat expansion in the CNBP(ZNF9)
gia, ventilatory insufficiency Cause: Failure gene (3q13.3-q24). Normal alleles have up
of chemical transmission at the neuromuscu- to 30 repeats; those affected have 75–11,000
lar junction. It is an autoimmune disorder in repeats with an average of 5,000. Inheritance:
which antibodies interfere with neuromuscu- AD with genetic anticipation (repeat expands
lar transmission. Although in rare instances in subsequent generations and the onset of
genetic in origin, it is most often acquired as symptoms becomes earlier); with rare excep-
an autoimmune disorder. Incidence: 1:30,000. tion, it is the mother who transmits muta-
Treatment: Directed at removing the offend- tions, causing the congenital form. Prevalence:
ing antibody and increasing the level of ace- 1:8,000; increased prevalence in certain areas
tylcholine in the synaptic cleft; the immuno- of Quebec.
logical approach has employed corticosteroid References: Douniol, M., Jacquette, A., Guilé,
medication, immunoglobulin, plasmapher- J.M., Tanguy, M.L., Angeard, N., Héron,
esis, and the surgical removal of the thymus D. … Cohen, D. (2009). Psychiatric and
gland. Transient symptom improvement due cognitive phenotype in children and ado-
to increased neurotransmitter levels in the lescents with myotonic dystrophy. Euro-
synaptic cleft is achieved with pyridostigmine pean Child and Adolescent Psychiatry, 18(12),
(Mestinon). Using these various treatment 705–715.
Lopez, C., Nakamori, M., Tomé, S., Chi- neuropathy, café-au-lait spots (usually fewer
tayat, D., Gourdon, G., Thornton, C.A., than six); in contrast to type I, no Lisch nod-
& Pearson, C.E. (2010). Expanded CTG ules or axillary freckling are seen. Associated
repeat demarcates a boundary for abnormal complications: Deafness (average age of onset
CpG methylation in myotonic dystrophy is 20 years), cataracts or other ocular abnor-
patient tissues. Human Molecular Genetics, malities, meningiomas (tumor of the menin-
20(1), 1–15. ges); tumor growth rates are variable within
Raheem, O., Olufemi, S.E., Bachinski, L.L., the same patients and between patients.
Vihola, A., Sirito, M., Holmlund-Hampf, Cause: Mutation in tumor-suppressor (NF2)
J. … Krahe, R. (2010). Mutant (CCTG) gene encoding merlin protein on chromo-
expansion causes abnormal expression of some 22q12.2; genotype/phenotype studies
zinc finger protein 9 (ZNF9) in myotonic show that nonsense mutations (mutations
dystrophy type 2. American Journal of that create a stop codon) are associated with
Pathology, 177(6), 3025–3036. more severe disease presentation than other
Nager syndrome See acrofacial dysostosis. types of genetic mutations. Inheritance: AD
NARP (neuropathy, ataxia, retinitis pigmen- with significant variability between patients;
tosa) Clinical features: Retinitis pigmentosa, up to 50% may represent NM. Prevalence:
sensory neuropathy. Associated complications: 1:60,000. Incidence: 1:25,000. Treatment: Mor-
Seizures, dementia, ataxia, proximal weak- tality is lower for patients treated in specialty
ness. Cause: Mutation in the ATP synthase 6 centers. Microsurgery and radiation therapy
gene. Inheritance: Maternal, through mtDNA. are both commonly used.
neonatal adrenoleukodystrophy See adre- References: Asthagiri, A.R., Parry, D.M., But-
noleukodystrophy, neonatal form. man, J.A., Kim, H.J., Tsilou, E.T., Zhuang,
neurofibromatosis, type I (von Recklinghau- Z., & Lonser, R.R. (2009). Neurofibroma-
sen disease) Disease category: Neurological tosis type 2. Lancet, 373(9679), 1974–1986.
disorder. Clinical features: Multiple café-au-lait Evans, D.G., Kalamarides, M., Hunter-
spots, axillary (armpit) and inguinal (groin) Schaedle, K., Blakeley, J., Allen, J., Babovic-
freckling, nerve tumors (fibromas) in body and Vuskanovic, D. … Giovannini, M. (2009).
on skin, Lisch nodules (brown bumps on the Consensus recommendations to accelerate
iris of the eye). Associated complications: Glau- clinical trials for neurofibromatosis type 2.
coma, scoliosis, hypertension, attention-def- Clinical Cancer Research, 15(16), 5032–5039.
icit/hyperactivity disorder (ADHD), macro- neuronal ceroid lipofuscinosis, juvenile See
cephaly or hydrocephalus, visual impairments Batten disease.
(secondary to optic gliomas), increased risk of Niemann-Pick disease, types A and B Dis-
numerous malignant and benign tumors in the ease category: Inborn error of metabolism:
nervous system (malignant peripheral nerve lysosomal storage disorder. Clinical features:
sheath tumors in 8%–13% of patients), ver- Lysosomal storage disorder; type A presents
bal and nonverbal learning disabilities occur in infancy with poor weight gain, enlarged
in 30%–65% of patients. Cause: Mutation in liver and spleen, rapidly progressive neu-
NF1 gene, which codes for neurofibromin rological decline. Death occurs by age 2–3
protein, on chromosome 17q11.2. Inheritance: years. Associated complications: Intellectual dis-
AD with variable expression. Approximately ability, ataxia, myoclonus, eye abnormalities,
50% represent NM. Prevalence: 1:3,000. coronary artery disease, lung disease; type
References: Huijbregts, S. (2010). Cognitive B is variable but compatible with survival to
and motor control in neurofibromatosis adulthood and may cause few or no neuro-
type I: Influence of maturation and hyper- logical abnormalities. Main clinical features
activity-inattention. Developmental Neuro- of type B are enlargement of the spleen and
psychology, 35(6), 737–751. liver resulting in liver dysfunction, as well as
Lorenzo, J., Barton, B., Acosta, M.T., & cardiac disease, lipid abnormalities, pulmo-
North, K. (2011). Mental, motor, and lan- nary involvement, and growth retardation.
guage development of toddlers with neu- Cause: Sphingomyelinase enzyme deficiency
rofibromatosis type 1. Journal of Pediatrics, caused by mutations in the sphingomyelin-
158(4), 660–665. ase (SMPD) gene on chromosome 11p15.4.
neurofibromatosis, type II Disease category: Inheritance: AR. Prevalence: Rare; incidence
Neurological disorder. Clinical features: Bilat- of type A is increased in Ashkenazi Jewish
eral vestibular schwannomas (benign tumors population, type B is seen equally in all ethnic
of auditory nerve), cranial and spinal tumors, groups.
788 Simpson
References: McGovern, M.M., Aron, A., Bro- or pits, middle-ear abnormality with vari-
die, S.E., Desnick, R.J., & Wasserstein, able hearing loss, facial asymmetry with small
M.P. (2006). Natural history of Type A Nie- size unilaterally, macrostomia (large mouth),
mann-Pick disease: Possible endpoints for occasional cleft palate, microphthalmia or
therapeutic trials. Neurology, 66, 228–232. eyelid coloboma. Associated complications: Ver-
McGovern M.M., Wasserstein, M.P., Giugli- tebral anomalies, occasional heart and renal
ani, R., Bembi, B., Vanier, M.T., Mengel, E. (kidney) defects, intellectual disability in
… Cox, G.F. (2008). A prospective, cross- 10%. Cause: Unknown. Recent array-CGH
sectional survey study of the natural history studies on a cohort of patients were unable to
of Niemann-Pick disease type B. Pediatrics, identify a recurrent chromosomal abnormal-
122, e341–e349. ity. Inheritance: Genetically heterogeneous;
Noonan syndrome Disease category: Multiple may be SP in some cases resulting from ges-
congenital anomalies. Clinical features: Short tational maternal diabetes; additionally cases
stature, characteristic facial features, includ- with clear AR and AD inheritance have been
ing triangular shape, deep philtrum, down- reported. Prevalence: 1:45,000 in Northern
slanting palpebral fissures, ptosis, low-set ears, Ireland, presumably less common in other
low posterior hairline, short or webbed neck, populations. Incidence: 1:3,000–1:5,000.
congenital heart defects (usually pulmonary References: Rooryck, C., Souakri, N., Cailley,
valve stenosis, or hypertrophic cardiomy- D., Bouron, J., Goizet, C., Delrue, M.A.
opathy), shield-shaped chest; one third have … Arveiler, B. (2010). Array-CGH analy-
mild intellectual disability Associated complica- sis of a cohort of 86 patients with oculoau-
tions: Sensorineural deafness, malocclusion of riculovertebral spectrum. American Journal
teeth, learning disabilities with deficits in ver- of Medical Genetics Part A, 152A(8), 1984–
bal learning, attention-deficit/hyperactivity 1989.
disorder, poor motor coordination, bleeding, Vendramini-Pittoli, S., & Kokitsu-Nakata,
and lymphatic abnormalities. Cause: 4 genes N.M. (2009). Oculoauriculovertebral spec-
are linked to Noonan Syndrome: PTPN11 trum: Report of nine familial cases with evi-
(50%), SOS1 (10%–13%), RAF1 (3%–17%), dence of autosomal dominant inheritance
and KRAS (<5%). Inheritance: AD, 25%–50% and review of the literature. Clinical Dys-
NM. Prevalence: 1:1,000–1:2,500. Treatment: morphology, 18(2), 67–77.
Human growth hormone has been used to oculocerebrorenal syndrome See Lowe
treat short stature in some patients with syndrome.
Noonan syndrome. oculomandibulodyscephaly with hypotri-
References: Allanson, J.E., Bohring, A., Dörr, chosis See Hallermann-Streiff syndrome.
H.G., Dufke, A., Gillessen-Kaesbach, G., Optiz GBB syndrome (Opitz-Frias syndrome;
Horn, D. … Zenker, M. (2010). The face Opitz oculogenitolaryngeal syndrome;
of Noonan syndrome: Does phenotype pre- previously separate and called G syndrome
dict genotype. American Journal of Medical and BBB syndrome; [G refers to surname
Genetics A, 152A(8), 1960–1966. of original patient described.]) Disease cat-
Lee, D.A., Portnoy, S., Hill, P., Gillberg. C., egory: Multiple congenital anomalies. Clinical
& Patton, M.A. (2005). Psychological pro- features: Hypertelorism (wide-spaced eyes),
file of children with Noonan syndrome. hypospadias, imperforate (without an opening)
Developmental Medicine and Child Neurology, anus, dysphagia, bifurcated (divided) nasal tip,
47, 35–38. broad nasal bridge, widow’s peak, occasional
Romano, A.A., Allanson, J.E., Dahlgren, J., cleft lip/palate, mild to moderate intellectual
Gelb, B.D., Hall, B., Pierpont, M.E. … disability in two thirds of affected individu-
Noonan, J.A. (2010). Noonan syndrome: als. Associated complications: Gastroesophageal
Clinical features, diagnosis, and manage- reflux, esophageal dysmotility (poor move-
ment guidelines. Pediatrics, 126(4), 746– ment of food through the esophagus), hoarse
759. cry, occasional congenital heart defect, agen-
oculoauriculovertebral spectrum (facio- esis of corpus callosum, platelet abnormali-
auriculo-vertebral spectrum; Goldenhar ties, structural cerebellar anomalies, including
syndrome; hemifacial microsomia) Dis- Dandy-Walker malformation. Cause: MID1
ease category: Multiple congenital anoma- gene on Xp22.3 is known to cause the X linked
lies. Clinical features: Unilateral external ear form. The gene believed to cause the AD form
deformity ranging from absence of an ear to has been linked to deletion of 22q11.2. Inheri-
microtia (tiny ear), preauricular (earlobe) tags tance: AD and XLR. In both the AD and XLR
forms symptoms are more severe in males than mosaicism); type IIB: AR. Type III is occasion-
in females. Prevalence: Unknown. ally AR, types VI and VII are AR (type VII is
References: Erickson, R.P., Díaz de Ståhl, T., only seen in indigenous peoples in northern
Bruder, C.E. … Dumanski, J.P. (2007). A Quebec and some South African families).
patient with 22q11.2 deletion and Opitz Prevalence: 1:30,000. Treatment: Cyclic intra-
syndrome-like phenotype has the same dele- venous pamidronate therapy to increase bone
tion as velocardiofacial patients. American mineral density. (See Chapter 13.)
Journal of Medical Genetics Part A,143A(24), References: Alanay, Y., Avaygan, H., Camacho,
3302–3308. N., Utine, G.E., Boduroglu, K., Aktas, D.
Hsieh, E.W., Vargervik, K., & Slavotinek, … Krakow, D. (2010). Mutations in the
A.M. (2008). Clinical and molecular studies gene encoding the RER protein FKBP65
of patients with characteristics of Opitz G/ cause autosomal recessive osteogenesis
BBB syndrome shows a novel MID1 muta- imperfecta. American Journal of Human
tion. American Journal of Medical Genetics, Genetics, 86(4), 551–559.
146A(18), 2337–2345. Shapiro, J.R., & Sponsellor, P.D. (2009).
osteogenesis imperfecta Disease category: Osteogenesis imperfecta: Questions and
Connective tissue disorder. Clinical features: answers. Current Opinion in Pediatrics, 21(6),
Seven clinically distinct forms of this meta- 709–716.
bolic disease of bone have been described. pentasomy X See XXXXX syndrome.
Type I is characterized by typical height or Pfeiffer syndrome (acrocephalosyndactyly,
mild short stature, bone fragility, and blue type V) Disease category: Craniosynosto-
sclera. Type II usually presents with severe sis. Three subtypes of Pfeiffer syndrome
bone deformity and death in the newborn have been described with a range of clinical
period. Type III is characterized by progres- severity. Clinical features: Mild craniosynos-
sive bone deformity, short stature, triangular tosis with brachycephaly, flat mid-face, broad
face, severe scoliosis, and dental abnormalities. thumbs and toes, hypertelorism, and partial
Type IV is clinically similar to type I, but pres- syndactyly. Associated complications: Hydro-
ents with normal sclerae, milder bone defor- cephalus, airway obstruction due to mid-face
mity, variable short stature, and dental abnor- hypoplasia, hearing impairment, seizures,
malities. Type V is similar to type IV but with occasional intellectual disability. Cause:
hyperplastic callus formation at fracture sites, Mutations in the genes that code for fibro-
calcification of the interosseous membrane blast growth factor receptors 1 and 2 (FGFR1
between the radius and ulna and the presence and FGFR2) on chromosomes 8p11.2–p11.1
of a radioopaque metaphyseal band adjacent and 10q26, respectively. Inheritance: AD with
to the growth plates. Type VI is characterized many cases due to NM. Prevalence: 1:100,000.
by severe bone deformity with moderate short References: Fearon, J.A., & Rhodes, J. (2009).
stature and a fish scale pattern of bone deposi- Pfeiffer syndrome: A treatment evaluation.
tion. Type VII causes moderate bone deforma- Plastic and Reconstructive Surgery, 123(5),
tions, mild short stature, with a shortening of 1560–1569.
the long bones (humerus and femor). Associated Vogels, A., & Fryns, J.P. (2006). Pfeiffer syn-
complications: Increased prevalence of fractures drome. Orphanet Journal of Rare Diseases, 1,
(may be confused with physical abuse) that 19.
decreases after puberty; scoliosis; mitral valve phenylketonuria (PKU) Disease category:
prolapse; occasionally progressive adolescent- Inborn error of metabolism: amino acid. Clini-
onset hearing loss. Cause: Mutations in one cal features: Inborn error of amino acid metab-
of the genes regulating collagen formation. olism without acute clinical symptoms; intel-
Type I maps to 17q21–q22 (COLA1). Types lectual disability, microcephaly, abnormal gait,
IIA, II and IV map to both the COLA1 gene and seizures may develop in untreated individ-
and 7q21–q22 (COLA2). Type IIB has been uals. Treated individuals have still been found
linked to CRTAP on 3p22, 3p24.1-p22. Type to have mild cognitive deficits, especially in
VI is caused by mutation in the FKBP10 gene executive function. Pale skin and blond hair
on 17q21. Type VII is also caused by muta- are common features. Associated complications:
tions in the CRTAP gene on 3p22, 3p24.1-p22 Behavioral disturbances, cataracts, skin disor-
(allelic to Type IIB). The genetic cause of type ders, movement disorders. Cause: Classically
V has yet to be determined. Inheritance: Type caused by a deficiency of the enzyme phenyl-
I, IV, V: AD; type IIA: AD (all type IIA cases alanine hydroxylase, which is associated with
are NM; recurrence risk is 6% due to gonadal a mutation in the PAH gene on chromosome
790 Simpson
12q24.1. Inheritance: AR. Prevalence: 1:10,000 Cause: Impaired closure of the posterior pala-
among Caucasians in the United States. tal shelves early in development; this defect
Treatment: Early identification is available can be an isolated finding or can be associated
through newborn screening. A phenylalanine- with trisomy 18, Stickler syndrome, or other
restricted, low-protein diet should be contin- syndromes. Inheritance: AR; a rare X-linked
ued at least until adulthood and in females dur- form also exists. Prevalence: Unknown. Treat-
ing childbearing years. Returning to a regular ment: Surgical procedure (mandibular dis-
diet even in adulthood may cause reduction of traction osteogenesis) can be used to correct
IQ. Specialized formulas are available for indi- micrognathia, which alleviates many of the
viduals who need to be on the restricted diet. feeding and respiratory problems.
Sapropterin dihydrochloride (Kuvan), a syn- References: Al-Samkari, H.T., Kane, A.A.,
thetic formulation of the cofactor tetrahydro- Molter, D.W., & Vachharajani, A. (2010).
biopterin (BH4) is approved to reduce blood Neonatal outcomes of Pierre Robin
phenylalanine levels in patients with hyper- sequence: An institutional experience. Clin-
phenylalaninemia due to tetrahydrobiopterin- ical Pediatrics, 49(12), 1117–1122.
responsive PKU. See also Chapter 19. Drescher, F.D., Jotzo, M., Goelz, R., Meyer,
References: Harding, C.O., & Blau, N. (2010). T.D., Bacher, M., & Poets, C.F. (2008).
Advances and challenges in phenylketon- Cognitive and psychosocial development of
uria. Journal of Inherited Metabolic Disease, children with Pierre Robin sequence. Acta
33(6), 645–648. Paediatrica, 97(5), 653–656.
Trefz, F.K., Scheible, D., & Frauendienst- PKU See phenylketonuria.
Egger, G. (2010). Long-term follow-up of polyostotic fibrous dysplasia See McCune-
patients with phenylketonuria receiving Albright syndrome.
tetrahydrobiopterin treatment. Journal of Prader-Willi syndrome Disease category:
Inherited Metabolic Disease. doi: 10.1007/ Multiple congenital anomalies/imprinting
s10545-010-9058-x. defect/contiguous gene. Clinical features:
White, D.A., Waisbren, S., & van Spronsen, Short stature, poor weight gain in infancy,
F.J. (2010). The psychology and neuro- hyperphagia (abnormally increased appe-
pathology of phenylketonuria. Molecular tite), almond-shaped eyes, viscous (thick)
Genetics and Metabolism, 99(1), 1–2. saliva, hypotonia, particularly in neck region,
phenytoin syndrome (fetal hydantoin syn- hypogonadism with cryptorchidism, small
drome) Disease category: Malformation. hands and feet, hypopigmentation. Associ-
Clinical features: Intrauterine growth restric- ated complications: Mild to moderate intellec-
tion with microcephaly and minor dysmor- tual disability, behavior problems (tantrums,
phic craniofacial features and limb defects obsessive compulsive disorder, rigidity, food
including hypoplastic nails and distal phalan- stealing, skin picking), obstructive sleep
ges. Associated complications: Growth problems apnea, high pain threshold, osteoporosis,
and developmental delay, or intellectual dis- neonatal temperature instability, type 2
ability. Cause: Maternal ingestion of phenytoin diabetes. Cause: Approximately 75% have a
(Dilantin) during pregnancy. Prevalence: microdeletion on the long arm of the pater-
About one third of children whose mothers nally inherited chromosome 15 (15q11–q13);
are taking this drug during pregnancy have 25% have maternal uniparental disomy.
features of phenytoin syndrome. Treatment: Inheritance: NM with AD inheritance when
Surgical correction of cranial facial and limb passed from an affected individual. Incidence:
defects when required and feasible. 1:10,000–1:30,000. Prevalence: 1:50,000.
Reference: Nicolai, J., Vles, J.S., & Alden- References: Benson, L.A., Maski, K.P., Kothare,
kamp, A.P. (2008). Neurodevelopmental S.V., & Bourgeois, B.F. (2010). New onset
delay in children exposed to antiepileptic epilepsy in Prader-Wili syndrome: Semi-
drugs in utero: A critical review directed at nology and literature review. Pediatric Neu-
structural study-bias. Journal of Neurological rology, 43(4), 297–299.
Science, 271(1–2), 1–14. Buiting, K. (2010). Prader-Willi syndrome
Pierre-Robin sequence Disease category: and Angelman syndrome. American Journal
Malformation. Clinical features: Micrognathia, of Medical Genetics Part C, 154C(3), 365–376.
cleft palate, glossoptosis (downward displace- Whittington, J. & Holland, A. (2010). Neu-
ment of tongue). Associated complications: Neo- robehavioral phenotype in Prader-Willi
natal feeding problems, apnea or respiratory Syndrome. American Journal of Medical
distress, upper airway obstruction, GI reflux. Genetics Part C, 154C(4), 438–447.
propionic acidemia Disease category: Inborn enlargement and dysfunction. Associated com-
error of metabolism: organic acidemia. Clini- plications: Sensorineural hearing impairment,
cal features: A disorder of organic acid metab- intellectual disability, peripheral neuropathy,
olism characterized by episodes of vomiting, hypercholesterolemia (elevated blood cho-
lethargy, and coma; hypotonia, bone marrow lesterol level), anosomia (inability to smell);
suppression, enlarged liver (hepatomegaly), there is also a late-onset form of this disease.
characteristic facies with puffy cheeks and Cause: Accumulation of phytanic acid, very
exaggerated Cupid’s bow upper lip. Associ- long chain fatty acids, di- and trihydroxy-
ated complications: Impaired antibody produc- cholestanoic acids, and pipecolic acid due to
tion, intellectual disability, seizures in half, defect in peroxisomal function. Mutations in
abnormalities of muscle tone, lack of appe- PEX1 (7q21-q22), PEX2 (8q21.2), and PEX26
tite, prolonged drowsiness, rapid difficult (22q11.21) genes have been linked to infantile
breathing; a late-onset form of propionic aci- Refsum disease. Inheritance: AR. Prevalence:
demia has been described with average onset Rare. Treatment: Restriction of dietary intake
at 16 months. Cause: Deficiency of enzyme of phytanic acid or eliminating phytanic acid
propionyl-CoA carboxylase (PCC) caused by plasmapheresis or lipid apheresis has been
by mutations in the PCCA gene on chromo- shown to reduce phytanic acid concentrations
some 13q32 and the PCCB gene on chromo- in plasma by 50%–70% leading to improve-
some 3q21–q22. Inheritance: AR. Prevalence: ment of ichthyosis, sensory neuropathy and
1:2,000–1:5,000 in Saudi Arabia; rare else- ataxia.
where. Treatment: Treatment consists of a References: Wanders, R.J., & Waterham, H.R.
diet low in valine, isoleucine, threonine, and (2005). Peroxisomal disorders I: Biochem-
methionine with supplement of carnitine. A istry and genetics of peroxisome biogenesis
commercial formula is available. Hemofiltra- disorders. Clinical Genetics, 67(2), 107–133.
tion and peritoneal dialysis have been used Van Maldergem, L., Moser, A.B., Vincent,
with some success in patients in metabolic M.F., Roland, D., Reding, R., Otte, J.B. …
crisis. Some success has been documented Sokal, E. (2005). Orthotopic liver trans-
in treating hyperammonemia in propionic plantation from a living-related donor in
acidemia patients with N-carbamylgluta- an infant with a peroxisome biogenesis
mate (Carbaglu). Liver transplantation has defect of the infantile Refsum disease type.
been used in some cases and is considered an Journal of Inherited Metabolic Disease, 28(4),
option for patients who continue to experi- 593–600.
ence episodes of hyperammonemia in spite of retinitis pigmentosa Disease category: Oph-
maximal medical treatment. thalmalogic. Clinical features: A group of dis-
References: Ah Mew, N., McCarter, R., Dai- eases associated with retinal degeneration,
khin, Y., Nissim, I., Yudkoff, M., & Tuch- constricted visual fields, and progressive
man, M. (2010). N-carbamylglutamate aug- blindness; initial symptom is night blind-
ments ureagenesis and reduces ammonia and ness occurring in adolescence or adult life
glutamine in propionic acidemia. Pediatrics, and loss of peripheral vision. Associated com-
126(1), e208–e214. plications: May occur as an isolated condition
Barshes, N.R., Vanatta, J.M., Patel, A.J., or as part of over 30 syndromes (e.g., Usher
Carter, B.A., O’Mahony, C.A., Karpen, syndrome, mitochondrial disorders). Cause:
S.J., & Goss, J.A. (2006). Evaluation and More than 35 different genes have been iden-
management of patients with propionic aci- tified to date. Additional causative genes are
demia undergoing liver transplantation: A anticipated. Inheritance: AD in 15%–25% of
comprehensive review. Pediatric Transplant, cases, AR in 5%–20%, and XLR in 5%–15%.
10(7), 773–781. A genetic cause is yet to be identified in the
Johnson, J.A., Le, K.L., & Palacios, E. (2009). remaining 40%–50%. A rare digenic form
Propionic acidemia: Case report and review where individuals are heterozygous for muta-
of neurologic sequelae. Pediatric Neurology, tions in two genes also exists. Recurrence risk
40(4), 317–320. depends on cause and family history. Inci-
Refsum disease, infantile Disease category: dence: 1:3,500–1:4,000 in the United States
Neurologic/peroxisomal disorder. Clinical and Europe.
features: Poor weight gain, absent or tiny ear References: Simpson, D.A., Clark, G.R., Alex-
lobes, high forehead, single palmar crease, flat ander, S., Silvestri, G., & Willoughby,
facial profile and nasal bridge, retinal degen- C.E. (2011). Molecular diagnosis for het-
eration/retinitis pigmentosa, hypotonia, liver erogenous genetic disease with targeted
792 Simpson
high-throughput DNA sequencing applied most common, is clinically more severe, and
to retinitis pigmentosa. Journal of Medical is often accompanied by rib anomalies. Preva-
Genetics. 48(3), 145–151. lence: Rare.
Musarella, M., & MacDonald, I. (2010). Cur- References: Mazzeu, J.F., Pardono, E., Vianna-
rent concepts in the treatment of retinitis Morgante, A.M., Richieri-Costa, A., Ae
pigmentosa. Journal of Ophthalmology. doi: Kim, C., Brunoni, D. … Otto, P.A. (2007).
10.1155/2011/753547. Clinical characterization of autosomal
Rett syndrome (Rett’s disorder) Disease dominant and recessive variants of Rob-
category: Progressive neurologic disorder. inow syndrome. American Journal of Medical
Clinical features: Typical development for 6–9 Genetics Part A, 143(4), 320–325.
months, followed by progressive encepha- Mazzeu, J.F., Vianna-Morgante, A.M.,
lopathy. Features of autism, loss of purpose- Krepischi, A.C., Oudakker, A., Rosenberg,
ful hand use with characteristic wringing of C., Szuhai, K. … Brunner, H.G. (2010).
hands, hyperventilation, ataxia, spasticity. Deletions encompassing 1q41q42.1 and
Associated complications: Postnatal onset of clinical features of autosomal dominant
microcephaly, seizures. Cause: Mutations in Robinow syndrome. Clinical Genetics, 77,
the methyl-CpG binding protein 2 (MeCP2) 404–407.
gene at Xq28. Mutations in CDKL5 (Xp22) Rubinstein-Taybi syndrome Disease cat-
have been found in individuals with what has egory: Multiple congenital anomalies. Clinical
been characterized as the early-seizure onset features: Growth retardation, broad thumbs
variant of Rett. Inheritance: XLD with severe, and toes, maxillary hypoplasia (small upper
neonatal encephalopathy or lethality in males. jaw), high-arched palate, down-slanted pal-
Prevalence: 1:10,000 among females. pebral fissures, prominent nose, pouting
References: Didden, R., Korzilius, H., Smeets, lower lip, short upper lip, occasional agen-
E., Green, V.A., Lang, R., Lancioni, G.E., esis of corpus callosum. Associated complica-
& Curfs, L.M. (2010). Communication in tions: Apnea, constipation, reflux, feeding
individuals with Rett syndrome: An assess- difficulties, hypotonia, cardiac defects, renal
ment of forms and functions. Journal of anomalies, ophthalmologic problems, keloid
Developmental and Physical Disabilities, 22(2), (scar) formation, glaucoma, cryptorchidism,
105–118. moderate to severe intellectual disability (IQ
Neul, J.L., Kaufmann, W.E., Glaze, D.G., scores range from 25–79 and average 36–51),
Christodoulou, J., Clarke, A.J., Bahi-Buis- and behavior problems. Cause: Mutations of
son, N. … RettSearch Consortium. (2010). the CREB binding protein (CBP) gene on
Rett syndrome: Revised diagnostic crite- chromosome 16p13.3, most often an inter-
ria and nomenclature. Annals of Neurology. stitial microdeletion of this chromosome
68(6), 944–50. locus, as well as mutations of the EP300 gene
Riley-Day syndrome See familial dysauto- (22q13). Inheritance: Most cases are due to a
nomia. NM with AD inheritance when passed from
Robinow syndrome (fetal face syn- an affected individual. Prevalence: 1:125,000.
drome) Disease category: Skeletal dysplasia. References: Bartsch, O., Kress, W., Kempf,
Clinical features: Slight to moderate short stat- O., Lechno, S., Haaf, T., & Zechner, U.
ure, short forearms, macrocephaly with fron- (2010). Inheritance and variable expression
tal bossing (prominent central forehead), flat in Rubinstein-Taybi syndrome. American
facial profile with apparent hypertelorism, Journal of Medical Genetics Part A, 152A(9),
small, upturned nose, hypogenitalism, micro- 2254–2261.
gnathia, small face, tented upper lip with Verhoeven, W., Tuinier, S., Kuijpers, H.J.,
occasional clefting of the lower lip, hypertro- Egger, J.I., & Brunner, H.G. (2010). Psy-
phy of the gums, deficiency of the lower eye- chiatric profile in rubinstein-taybi syn-
lid giving the appearance of protruding eyes drome. A review and case report. Psychopa-
(exophthalmos), congenital heart defects. thology, 42(1), 63–68.
Associated complications: Vertebral or rib anom- Russell-Silver syndrome (Silver-Russell
alies, dental malocclusion, genital hypoplasia, syndrome) Disease category: Imprinting
inguinal (groin) hernia, enlarged liver and defect/multiple congenital anomalies. Clini-
spleen, developmental delay in 15% of cases. cal features: Short stature (beginning with
Cause: Mutations in the ROR2 gene on 9q22. intrauterine growth retardation), skeletal
AD form has been linked to deletions of asymmetry with hemihypertrophy (enlarge-
1q41q42.1 Inheritance: Rarely AD; AR form is ment of one side of the body) in 60%;
triangular facies, beaked nose, thin upper Woods, R.H., Ul-Haq, E., Wilkie, A.O., Jay-
lip, narrow, high-arched palate, blue sclerae, amohan, J., Richards, P.G., Johnson, D. …
occasional café-au-lait spots, fifth finger Wall, S.A. (2009). Reoperation for intracra-
clinodactyly, genital anomalies in males; nial hypertension in TWIST1-confirmed
motor and cognitive developmental delay Saethre-Chotzen syndrome: A 15-year-
and learning disabilities. Associated compli- review. Plastic and Reconstructive Surgery,
cations: Delayed fontanelle (soft spot) clo- 123(6), 1801–1810.
sure, hypocalcemia in neonatal period with Sanfilippo syndrome (MPS III) See muco-
sweating and rapid breathing, increased risk polysaccharidoses.
of fasting hypoglycemia as toddler, feeding Scheie syndrome (MPS V) See mucopoly-
difficulties, precocious sexual development, saccharidoses.
vertebral anomalies. Cause: 44% of patients Silver-Russell syndrome See Russell-Silver
have a hypomethylation of the imprinting syndrome.
control region 1 (ICR1) in 11p15.5 affecting Sly syndrome (MPS VII) See mucopolysac-
the expression of H19 and IGF2. 4%–10% charidoses.
of the patients carry a maternal UPD of Smith-Lemli-Opitz syndrome Disease cat-
chromosome 7. Chromosomal rearrange- egory: Inborn error of metabolism-cholesterol
ments have also been reported. Inheritance: synthesis. Clinical features: Microcephaly,
NM with AD inheritance when passed from short nose with upturned nostrils, low serum
an affected individual; maternal uniparental cholesterol, syndactyly of second and third
disomy; AR in rare cases. Recurrence risk is toes, genitourinary abnormalities, renal
generally low but can be increased in cases of anomalies, and lung malformations. Associ-
familial epimutations or chromosomal rear- ated complications: Intrauterine growth restric-
rangements. Prevalence: Unknown. tion, postnatal growth retardation, hypoto-
References: Eggermann, T. (2010). Russell-Sil- nia, moderate to severe intellectual disability,
ver syndrome. American Journal of Medical motor and language delay, seizures, feeding
Genetics Part C, 154C(3), 355–364. difficulties and vomiting, photosensitivity,
Wakeling, E.L., Amero, S.A., Alders, M., occasional heart defect. Specific behavioral
Bliek, J., Forsythe, E., Kumar, S. … Cob- features include: irritability, sleep distur-
ben, J.M. (2010). Epigenotype-phenotype bance, self-injurious behavior. Cause: Defect
correlations in Silver-Russell syndrome. in cholesterol metabolism (conversion of
Journal of Medical Genetics, 47(11), 760– 7-DHC to cholesterol) caused by mutations
768. in the sterol delta-7-reductase gene (DHCR7)
Saethre-Chotzen syndrome Disease cate- on chromosome 11q12–q13. Clinical features
gory: Craniosynostosis. Clinical features: Short result from deficiency of cholesterol as well
stature, brachycephaly (forshortened skull), as toxic accumulation of 7-DHC. Inheritance:
acrocephaly, radioulnar synostosis (fusion AR. Prevalence: 1:20,000–1:40,000. Treatment:
of lower arm bones), syndactyly of the sec- Dietary modifications, including cholesterol
ond and third fingers, and third and fourth supplementation.
toes, fifth finger clinodactyly, craniosynos- References: Chan, Y.M., Merkens, L.S., Connor,
tosis, small ears, flat facies with long pointed W.E., Roullet, J.B., Penfield, J.A., Jordan,
nose and low hairline and facial asymmetry, J.M. … Jones, P.J. (2009). Effects of dietary
shallow asymmetric eye orbits with hyper- cholesterol and simvastatin on cholesterol
telorism. Associated complications: Late clos- synthesis in Smith-Lemli-Opitz syndrome.
ing fontanelles (soft spot of forehead), deaf- Pediatric Research, 65(6), 681–685.
ness, strabismus, proptosis, lacrimal (tear) Porter, F.D. (2008). Smith-Lemli-Opitz syn-
duct abnormalities. Cause: Mutations in the drome: Pathogenesis, diagnosis and man-
TWIST transcription factor gene on chro- agement. European Journal of Human Genet-
mosome 7p21. Inheritance: AD. Prevalence: ics, 16(5), 535–541.
1:25,00–1:50,000. Tierney, E., Conley, S.K., Goodwin, H., &
References: Foo, R., Guo, Y., McDonald- Porter, F.D. (2010). Analysis of short-term
McGinn, D.M., Zackai, E.H., Whitaker, behavioral effects of dietary cholesterol
L.A., & Bartlett, S.P. (2009). The natural supplementation in Smith-Lemli-Opitz
history of patients treated for TWIST1- syndrome. American Journal of Medical
confirmed Saethre-Chotzen syndrome. Genetics Part A, 152A(1), 91–95.
Plastic and Reconstructive Surgery, 124(6), Smith-Magenis syndrome (SMS) Disease
2085–2095. category: Multiple congenital anomalies/
794 Simpson
Contiguous gene syndrome. Clinical fea- spongy degeneration of central nervous sys-
tures: Feeding difficulties, poor weight gain, tem See Canavan disease.
hypotonia, hyporeflexia, lethargy, distinctive Stickler syndrome (hereditary progressive
facial features, developmental delay, cogni- arthroophthalmopathy) Disease category:
tive impairment and significant behavioral Connective tissue disorder. Clinical features:
abnormalities including sleep disturbance, Flat facies, myopia, cleft of hard or soft pal-
sterotypies (such as a “self-hug” and “lick and ate, spondyloepiphyseal dysplasia (lag of min-
flip”), self-injurious behavior including self- eralization of bone). Associated complications:
hitting, self-biting. Associated complications: Hypotonia, hyperextensible joints, occasional
skeletal anomalies, short stature, brachydac- scoliosis, risk of retinal detachment, cataracts,
tyly, ophthalmologic abnormalities, otolaryn- arthropathy in late childhood or adulthood,
gologic abnormalities, peripheral neuropathy, occasional hearing loss or cognitive impair-
cardiac and renal anomalies. Cause: Micro- ment. Cause: Mutations in type 2, type 9
deletion at chromosome 17p11.2 or muta- and type 11 procollagen genes (COL2A1,
tions including the gene RAI1. Inheritance: COL9A1, COL11A1, COL11A2), which have
Most cases represent new mutations with been linked to chromosomes 12q13.11–
AD inheritance when passed from an affected q13.2, 6q13, 1p21, and 6p21.3, respectively.
individual. Prevalence: 1:25,000. Inheritance: AD with variable expression, AR
References: Laje, G., Morse, R., Richter, W., (COL9A1 mutations). Prevalence: 1:7,500–
Ball, J., Pao, M., & Smith, A.C. (2010). 1:9,000.
Autism spectrum features in Smith-Mage- References: Hoornaert, K.P., Vereecke, I.,
nis syndrome. American Journal of Medical Dewinter, C., Rosenberg, T., Beemer, F.A.,
Genetics Part C, 154C(4), 456–462. & Leroy, J.G. (2010). Stickler syndrome
Wolters, P.L., Gropman, A.L., Martin, S.C., caused by COL2A1 mutations: Genotype-
Smith, M.R., Hildenbrand, H.L., Brewer, phenotype correlation in a series of 100
C.C., & Smith, A.C. (2009). Neurodevel- patients. European Journal of Human Genet-
opment of children under 3 years of age ics, 18(8), 872–880.
with Smith-Magenis syndrome. Pediatric Richards, A.J., McNinch, A., Martin, H.,
Neurology, 41(4), 250–258. Oakhill, K., Rai, H., Waller, S. … Snead,
Sotos syndrome Disease category: Over- M.P. (2010). Stickler syndrome and the vit-
growth syndrome. Clinical features: An over- reous phenotype: Mutation in COL2A1 and
growth syndrome characterized by a distinc- COL11A1. Human Mutation, 31(6), E1461–
tive head shape, macrocephaly, downslanting E1471.
eyes, flat nasal bridge, accelerated growth Van Camp, G., Snoeckx, R.L., Hilgert, N.,
with advanced bone age, high forehead, van den Ende, J., Fukuoka, H., Wagatsuma,
hypertelorism, and prominent jaw. Associ- M. … Usami, S. (2006). A new autoso-
ated complications: Increased risk of abdomi- mal recessive form of Stickler syndrome is
nal tumors, hypotonia, marked speech delay, caused by a mutation in the COL9A1 gene.
congenital heart defects, varying degrees of American Journal of Human Genetics, 79(3),
cognitive impairment. Cause: Mutations in 449–457.
the NSD1 gene have been found to be caus- Sturge-Weber syndrome Disease category:
ative; in addition, submicroscopic deletions Multiple congenital anomalies. Clinical fea-
have been identified at chromosome 5q35. tures: Flat facial “port wine stains,” seizures,
Inheritance: AD with the majority of cases due glaucoma, intracranial vascular abnormal-
to a NM. Prevalence: 1:14,000. ity. Associated complications: Hemangiomas
References: de Boer, L., Röder, I., & Wit, J.M. (benign congenital tumors made up of newly
(2006). Psychosocial, cognitive, and motor formed blood vessels) of meninges; may
functioning in patients with suspected Sotos be progressive in some cases, with gradual
syndrome: A comparison between patients visual or cognitive impairment and recurrent
with and without NSD1 gene alterations. stroke-like episodes, hemiparesis, hemiatro-
Developmental Medicine and Child Neurology, phy, and hemianopia (decreased vision in one
48(7), 582–588. eye). Cause: Unknown. Inheritance: Usually
Leventopoulos, G., Kitsiou-Tzeli, S., Kritikos, SP, possibly due to somatic mosaicism; AD
K., Psoni, S., Mavrou, A., Kanavakis, E., & in a few reported cases. Incidence: 1:50,000.
Fryssira, H. (2009). A clinical study of Sotos Treatment: Pharmacologic therapies can be
syndrome patients with review of the litera- used to treat seizures, surgical intervention
ture. Pediatric Neurology, 40(5), 357–364. can be used for glaucoma, and laser therapy
can be used to remove vascular facial features. testing. American Journal of Medical Genetics
References: Alkonyi, B., Govindan, R.M., Part A, 149A(11), 2444–2447.
Chugani, H.T., Behen, M.E., Jeong, J.W., tetrasomy X See XXXX syndrome.
& Juhász, C. (2011). Focal white matter Tourette syndrome Disease category: Neu-
abnormalities related to neurocognitive rological disorder. Clinical features: Chronic
dysfunction: An objective diffusion tensor vocal or motor tics (irrepressible, repetitive,
imaging study of children with Sturge- non-rhythmic movements and vocalizations)
Weber syndrome. Pediatric Research, 69(1), present for at least 1 year, obsessive-compul-
74–79. sive disorder (OCD), attention-deficit/hyper-
Turin, E., Grados, M.A., Tierney, E., Ferenc, activity disorder (ADHD). Age of onset is
L.M., Zabel, A., & Comi, A.M. (2010). typically between age 3 and 8 years with onset
Behavioral and psychiatric features of of motor tics most often preceding vocal tics.
Sturge-Weber syndrome. Journal of Ner- The course of the tics is waxing and waning
vous and Mental Disease, 198(12), 905–913. and peak symptom intensity is usually in late
subacute necrotizing encephalomyopathy childhood (mean age 10 years) Fluctuation
Leigh syndrome; See mitochondrial disorders. occurs in adolescence and by early adult-
sulfatide lipidosis See metachromatic leuko- hood there is often significant improvement.
dystrophy. Associated complications: Learning difficulties,
TAR syndrome See thrombocytopenia- language-based learning problems, habit dis-
absent radius syndrome. orders such as trichotillomania (chronic hair
Tay-Sachs disease (GM2 gangliosidosis, type pulling), pathologic nail biting and skin pick-
I) Disease category: Inborn error of metabo- ing, mood disorders such as bipolar disorder
lism: lysosomal storage disease. Clinical features: and major depressive disorder, anxiety. Cause:
A lysosomal storage disorder leading to a pro- Unknown although SLITRK1 has been impli-
gressive neurological condition characterized cated as a candidate gene but studies have
by deafness, blindness, and seizures; develop- not been conclusive. Environmental factors
ment is typical for the first several months of are thought to be involved as well since con-
life. Subsequently, there is an increased startle cordance rate is not 100% between monozy-
response, hypotonia followed by hypertonia, gotic twins. Inheritance: Unknown. Prevalence:
cherry-red spot in maculae, optic nerve atro- 0.3%–1%. Males are affected more often than
phy. There is rapid decline and fatality by age 5 females with an approximate 4:1 ratio. Treat-
years. An adult form of this enzyme deficiency ment: Typical and atypical neuroleptics such
presents with ataxia. Associated complications: as haloperidol and pimozide, alpha adren-
Feeding abnormalities, aspiration. Cause: Defi- ergic agonist such as clonidine, habit rever-
ciency of the enzyme hexosaminidase A caused sal therapy, surgical intervention for a small
by mutation in the HEXA gene at chromo- subset with intractable Tourettes disorder,
some 15q23–q24. Inheritance: AR. Prevalence: repetitive transcranial magnetic stimulation.
1:112,000; 1:3,600 in Ashkenazi Jewish popu- References: Bloch, M., State, M., & Pittenger,
lation (although extensive genetic counseling C. (2011). Recent advances in Tourette syn-
of carriers identified through carrier screen- drome. Current Opinion in Neurology, 24(2),
ing programs the incidence in the Ashkenazi 119–125.
Jewish population of North America has been Jankovic, J., & Kurlan, R. (2011). Tourette
reduced by more than 90%); increased fre- syndrome: Evolving concepts. Movement
quency in the Cajun and French Canadian Disorders, 26(6), 1149–1156.
populations. State, M. (2011). The genetics of Tourette
References: Elstein, D., Doniger, G.M., disorder. Current Opinion in Genetics &
Simon, E., Korn-Lubetzki, I., Navon, R., Development, 21(3), 302–309.
& Zimran, A. (2008). Neurocognitive test- thrombocytopenia-absent radius syndrome
ing in late-onset Tay-Sachs disease: A pilot (TAR syndrome) Disease category: Mul-
study. Journal of Inherited Metabolic Diseases, tiple congenital anomalies. Clinical features:
31(4), 518–523. Radial aplasia (absence of one of the lower
Schneider, A., Nakagawa, S., Keep, R., Dorsa- arm bones) with normal thumbs; thrombo-
inville, D., Charrow, J., Aleck, K. … Gross, cytopenia (platelet deficiency) is present in all
S. (2009). Population-based Tay-Sachs cases and symptomatic in 90% of cases; 50%
screening among Ashkenazi Jewish young of patients have dysmorphic features including
adults in the 21st century: Hexosaminidase micrognathia (small jaw) and low posteriorly
A enzyme assay is essential for accurate rotated ears. Associated complications: Knee joint
796 Simpson
abnormalities, neonatal foot swelling, occa- flexion deformity of fingers. Associated com-
sional congenital heart or renal (kidney) defect, plications: Cardiac defects, kidney and gastro-
gastrointestinal bleeding, and occasional intra- intestinal tract anomalies, eye abnormalities,
cerebral bleeding. Cause: Unknown. Pres- visual impairment, sensorineural hearing
ence of the minimally deleted 200-kb region loss, profound intellectual disability, cerebral
at chromosome band 1q21.1 is necessary palsy. 50% die within the first month of life.
but not sufficient to cause TAR. A modifier Cause: Nondisjunction (usually in maternal
is likely present. Inheritance: AR. Prevalence: meiosis I) resulting in extra chromosome 13;
0.5–1:100,000. Treatment: Platelet infusions. rarely parental translocation. Inheritance:
References: Klopocki, E., Schulze, H., Strauss, NM; usually nondisjunction chromosomal
G., Ott, C.E., Hall, J., Trotier, F. … Mund- abnormality; may recur in families in pres-
los, S. (2007). Complex inheritance pattern ence of parental translocation. Incidence:
resembling autosomal recessive inheritance 1:15,000–1:20,000 births.
involving a microdeletion in thrombocy- References: Crider, K.S., Olney, R.S., & Cra-
topenia-absent radius syndrome. American gan, J.D. (2008). Trisomies 13 and 18:
Journal of Human Genetics, 80(2), 232–240. Population prevalences, characteristics, and
Oishi, S., Carter, P., Bidwell, T., Mills, J., prenatal diagnosis, metropolitan Atlanta,
& Ezaki, M. (2009). Thrombocytopenia 1994–2003. American Journal of Medical
absent radius syndrome: Presence of bra- Genetics Part A, 146(7), 820–826.
chiocarpalis muscle and its importance. De Souza, E., Halliday, J., Chan, A., Bower,
Journal of Hand Surgery, 34(9), 1696. C., & Morris, J.K. (2009). Recurrence risks
Treacher Collins syndrome (mandibulofa- for trisomies 13, 18, and 21. American Jour-
cial dysostosis) Disease category: Multiple nal of Medical Genetics Part A, 149A(12),
congenital anomalies. Clinical features: Char- 2716–2722.
acteristic facial appearance with malformation trisomy 18 syndrome (Edwards syndrome)
of external ears, small chin, flattened mid- Disease category: Chromosome abnormality/
face, cleft palate. Associated complications: Con- Multiple congenital anomalies. Clinical fea-
ductive or mixed (conductive and sensorineu- tures: Prenatal onset of growth retardation,
ral) hearing loss; defects of middle and inner low-set ears, clenched fists, “rocker-bottom”
ear; respiratory and feeding problems, apnea; feet, congenital heart defects, microphthal-
intelligence is average in 95% of cases. Cause: mia, coloboma, corneal opacity; 30% die
93% of patients have mutations in TCOFI within first month of life, 50% by second
gene on chromosome 5q32–q33. POLR1D, month, and only 10% survive their first year.
which encodes a subunit present in RNA Associated complications: Feeding problems,
polymerase I (PolI) and RNA polymerase aspiration, conductive hearing loss, profound
III (PolIII), has recently also been linked to intellectual disability. Cause: Nondisjunction
Treacher Collins. Inheritance: AD. 60% NM. resulting in extra chromosome 18. Inheri-
Incidence: 1:10,000–1:50,000. Treatment: Sur- tance: NM; usually nondisjunction chromo-
gical repair of most malformations. somal abnormality, may recur in families in
References: Dauwerse, J., Dixon, J., Seland, presence of parental translocation. Incidence:
S., Ruivenkamp, C.A., van Haeringen, A., 1:7,500 births.
Hoefsloot, L.H. … Wieczorek, D. (2011). References: Crider, K.S., Olney, R.S., & Cra-
Mutations in genes encoding subunits of gan, J.D. (2008). Trisomies 13 and 18:
RNA polymerases I and III cause Treacher Population prevalences, characteristics, and
Collins syndrome. Nature Genetics. 43(1), prenatal diagnosis, metropolitan Atlanta,
20–22. 1994–2003. American Journal of Medical
Thompson, J.T., Anderson, P.J., & David, Genetics Part A, 146(7), 820–826.
D.J. (2009). Treacher Collins syndrome: De Souza, E., Halliday, J., Chan, A., Bower,
Protocol management from birth to matu- C., & Morris, J.K. (2009). Recurrence risks
rity. Journal of Craniofacial Surgery, 20(6), for trisomies 13, 18, and 21. American Jour-
2028–2035. nal of Medical Genetics Part A, 149A(12),
trisomy 13 syndrome (Patau syndrome) 2716–2722.
Disease category: Chromosome abnormality/ trisomy 21 See Down syndrome; see also
multiple congenital anomalies. Clinical fea- Chapter 18.
tures: Microphthalmia, coloboma, corneal trisomy X See XXX syndrome.
opacity, cleft lip and palate, polydactyly, scalp tuberous sclerosis complex Disease category:
defects, dysmorphic features, low-set ears, Neurologic. Clinical features: Hypo-pigmented
areas on skin, adenoma sebaceum (acne-like Developmental Disabilities Research Reviews,

facial lesions), infantile spasms, iris depig- 15(4), 270–278.
mentation, retinal defects, calcium deposits Thomas, J., & Yetman, A.T. (2009). Expert
in brain, benign tumor of the kidneys, pul- Review of Cardiovascular Therapy, 7(12),
monary lesions. Associated complications: Sei- 1631–1641.
zures, mild to moderate intellectual disability, urea cycle disorders Disease category: Inborn
tumors of the heart, increased risk of malig- error of metabolism: amino acid. Clinical fea-
nancy, hypoplastic tooth enamel and dental tures: this group of disorders results from
pits, renal (kidney) cysts, hypertension. Cause: defects in any of the first five enzymes (CPSI,
Mutations in the TSC1 and TSC2 genes on OTC, ASS, ASL, ARG) in the urea cycle or the
chromosomes 16p13 and 9q34, respectively. cofactor producer (NAGS) which break down
Inheritance: AD with variable expressivity. the excess nitrogen from protein degradation.
²/³ NM. Incidence: 1:5,800. Severe deficiencies or complete absence of the
References: D’Agati, E., Moavero R, Cermi- first four enzymes results in the accumulation
nara C, & Curatolo P. (2009). Attention- of ammonia and other precursor metabolites
deficit/hyperactivity disorder (ADHD) and during the first few days of life. Infants often
tuberous sclerosis complex. Journal of Child appear normal initially but rapidly develop
Neurology, 24(10), 1282–1287. lethargy, vomiting, anorexia, hyperventila-
de Vries, P.J. (2010). Targeted treatments for tion or hypoventilation, hypothermia, sei-
cognitive and neurodevelopmental disor- zures, neurologic posturing, cerebral edema/
ders in tuberous sclerosis complex. Neuro- encephalopathy and coma. Partial urea cycle
therapeutics, 7(3), 275–282. enzyme deficiencies are milder, and ammonia
Salerno, A.E., Marsenic, O., Meyers, K.E., accumulation may be triggered by illnesses or
Kaplan, B.S., & Hellinger, J.C. (2010). stress at almost any time of life thus delaying
Vascular involvement in tuberous sclerosis. diagnosis by months to years. Deficiency of
Pediatric Nephrology, 25(8), 1555–1561. the fifth enzyme in the pathway causes argi-
Turner syndrome (45,X; monosomy X) nase deficiency, which does not typically have
Disease category: Chromosome abnormality. the same frequency of hyperammonemic
Clinical features: Affecting females only, the episodes but results in seizures, intellectual
physical features include short stature, broad disability and severe spasticity. Citrin defi-
chest with widely spaced nipples, short neck ciency and hyperornithinemia, hyperammo-
with low hairline and extra skin at nape nemia, homocitrullinuria (HHH) syndrome
(“webbed” appearance), “puffy” hands and also occur due to defects in two transporters.
feet. Associated complications: “Streak” ova- Associated complications: Loss of appetite, cycli-
ries causing infertility and delayed puberty, cal vomiting, lethargy, behavioral abnormali-
congenital heart defect (often coarctation ties, delusions, hallucinations and psychosis
of aorta), small ear canals, eye involvement can occur during hyperammonemic episodes.
(strabismus, ptosis, nystagmus, cataracts), Developmental delay, attention-deficit/hyper-
chronic otitis media in 90% with frequent activity disorder, and intellectual disability are
hearing loss, hypothyroidism, renal (kid- common, especially in those patients who have
ney) disease; intelligence is usually aver- had significantly elevated ammonia levels.
age, but prevalence of learning disabilities Liver failure occurs in some patients. Cause:
is high. Cause: Nondisjunction chromo- mutations or deletions involving the genes
some abnormality resulting in one copy of encoding the enzymes, cofactor and trans-
sex chromosome. Inheritance: NM; usually porter proteins of the urea cycle. Inheritance:
nondisjunction chromosomal abnormality. AR, except OTC which is X-linked. Preva-
Prevalence: 1:4,000. Incidence: 1:2,000 Treat- lence: 1:30,000 although undiagnosed partial
ment: Growth hormone has been used suc- defects may make the number much higher.
cessfully to increase eventual adult height. Treatment: Hemodialysis for rapidly lowering
Hormone replacement therapy is needed to ammonia levels, ammonia scavenging medica-
initiate puberty (see also Chapter 1). tions (IV for acute hypermmonemia and oral
References: Burnett, A.C., Reutens, D.C., & for daily use), restricted protein diet to reduce
Wood, A.G. (2010). Social cognition in excess nitrogen, and amino acid supplementa-
Turner’s Syndrome. Journal of Clinical Neu- tion, liver transplantation in some infants with
roscience, 17(3), 283–286. complete defects.
Hong, D., Scaletta Kent, J., & Kesler, S. References: Krivitzky, L., Babikian, T., Lee,
(2009). Cognitie profile of Turner syndrome. H.S., Thomas, N.H., Burk-Paull, K.L., &
798 Simpson
Batshaw M.L. (2009). Intellectual, adap- features: Vertebral defects, anal atresia (imper-
tive, and behavioral functioning in children forate anus), genitourinary anomalies, tra-
with urea cycle disorders. Pediatric Research, cheoesophageal fistula (problem with con-
66(1), 96–101. nection between trachea and esophagus),
Scaglia, F. (2010). New insights in nutritional radial (lower arm) and other limb defects,
management and amino acid supplemen- renal (kidney) anomalies. VACTERL is an
tation in urea cycle disorders. Molecular expanded definition including cardiac mal-
Genetics and Metabolism, 100(1), S72–S76. formations and limb anomalies. Diagnosis is
Seminara, J., Tuchman, M., Krivitzky, L., made if 3 of 7 defects are present. Associated
Krischer, J., Lee, H.S., Lemons, C. … complications: Poor weight gain, ear anomalies,
Batshaw, M.L. (2010). Establishing a con- facial clefting; respiratory, cardiac, and renal
sortium for the study of rare diseases: The (kidney) abnormalities that can be severe.
urea cycle disorders consortium. Molecular Intelligence is usually not affected. Cause:
Genetics and Metabolism, 100(1), S97–S105. Unknown. Mutation in the HOXD13 gene
Usher syndromes Disease category: Auditory/ on 2q31-q32 was identified in 1 patient with
ophthalmalogic. Clinical features: Approxi- VACTERL association. Inheritance: Usu-
mately 10 subtypes exist; all have progressive ally SP, no recognized genetic or teratogenic
sensorineural deafness, nystagmus, retinitis cause; rare families with AR pattern. Preva-
pigmentosa, central nervous system defects lence: 1.6:10,000.
(e.g., loss of sense of smell, vertigo, epilepsy). References: Solomon, B.D., Pineda-Alvarez,
Type 1 is characterized by profound hearing D.E., Raam, M.S., & Cummings, D.A.
loss, absent vestibular function, and retinitis (2010). Evidence for inheritance in patients
pigmentosa in childhood. Individuals with with VACTERL association. Human Genet-
type 2 have normal vestibular function and ics, 127(6), 731–736.
less severe hearing loss with onset of retini- Wheeler, P.G., & Weaver, D.D. (2005).
tis pigmentosa in the second decade. Type Adults with VATER association: Long-
3 can be differentiated by the presence of a term prognosis. American Journal of Medical
progressive loss of hearing. Associated com- Genetics Part A, 128A(3), 212–217.
plications: Ataxia, psychosis, cataracts, occa- velocardiofacial syndrome (VCFS) See chro-
sional cognitive impairment; more than 50% mosome 22q11 microdeletion syndromes.
of adults with a combination of congenital von Recklinghausen disease See neurofi-
blindness and deafness have Usher syndrome. bromatosis, type I.
Cause: Seven chromosome loci (5 genes) have Waardenburg syndrome Disease category:
been identified for type 1 alone (MYO7A, Auditory/pigmentary. Four clinical subtypes
USH1C, CDH23, PCDH15, SANS). Three exist with types I and II accounting for the
loci have been identified for type 2, although majority of cases. Clinical features: Widely
only two genes have been identified: USH2A spaced eyes (type I), heterochromia (irises of
and GPR98(VLGR1). A fourth loci has been different colors), white hair forelock, non-
postulated but is unknown. One loci and gene progressive sensorineural hearing loss, mus-
has been identified for type 3: CLRN1. Inheri- culoskeletal abnormalities (type III). Types I
tance: AR. Prevalence: 4.4:100,000. Treatment: and II have virtually identical clinical features
Cochlear implants may be beneficial for some with the only distinguishing characteristic
individuals with type 1, while hearing aids are being telecanthus (abnormally long distance
effective for individuals with type 2. from the inside corner of the eye to the nose)
References: Kimberling, W.J., Hildebrand, which is found in type I, but not in type II. Type
M.S., Shearer, A.E., Jensen, M.L., Halder, III has telecanthus and upper limb abnormal-
J.A., Trzupek, K. … Smith R.J. (2010). Fre- ities. Type IV (also known as Waardenburg-
quency of Usher syndrome in two pediat- Shah syndrome) has the additional feature of
ric populations: Implications for genetic Hirschsprung disease. Associated complications:
screening of deaf and hard of hearing chil- Impaired vestibular function leading to ataxia,
dren. Genetics in Medicine, 12(8), 512–516. premature graying, vitiligo (patches of skin
Yan, D., & Liu, X.Z. (2010). Genetics and depigmentation), occasional glaucoma. Cause:
pathological mechanisms of Usher syn- Types I and III: Mutations in PAX3 gene on
drome. Journal of Human Genetics, 55(6), chromosome 2q35; type II: Mutations in
327–335. various genes, including the microphthalmia-
VATER/VACTERL association Disease cat- associated transcription factor (MITF) gene
egory: Multiple congenital anomalies. Clinical on chromosome 3p14.1–p12.3. Type IV is
caused by mutations in the EDNRB gene on result of NM (sporadic deletions). Prevalence:

13q22, the EDN3 gene on 20q13, and SOX10 1:7,500–1:8,000.
on 22q13. Inheritance: AD, AR. Prevalence: References: Mervis, C.B., & John, A.E. (2010).
1:20,000–1:40,000. Cognitive and behavioral characteristics of
References: Pau, H., Gibson, W.P., Gardner- children with Williams syndrome: Implica-
Berry, K., & Sanli, H. (2006). Cochlear tions for intervention approaches. American
implantations in children with Waarden- Journal Medical Genetics Part C, 154C(2),
burg syndrome: An electrophysiologi- 229–248.
cal and psychophysical review. Cochlear Morris, C.A. (2010). The behavioral pheno-
Implants International, 7(4), 202–206. type of Williams syndrome: A recognizable
Pingault, V., Ente, D., Dastot-Le Moal, F., pattern of neurodevelopment. American
Goossens, M., Marlin, S., & Bondurand, Journal Medical Genetics Part C, 154C(4),
N. (2010). Review and update of mutations 427–431.
causing Waardenburg syndrome. Human Wilson disease Disease category: Inborn error
Mutation, 31(4), 391–406. of metabolism: copper. Clinical features: Liver
Weaver syndrome Disease category: Multiple dysfunction, jaundice, Kayser-Fleischer ring
congenital anomalies. Clinical features: Micro- in cornea, low serum ceruloplasmin (enzyme
gnathia; distinctive chin with dimple; hyper- important in regulation of copper in body).
telorism; macrocephaly; downslanting palpe- Associated complications: Movement disorders,
bral fissures; long philtrum; depressed nasal dysphagia (difficulty swallowing) or other
bridge; hoarse, low-pitched cry; deep set nails. oral-motor dysfunction, behavioral distur-
Associated complications: Accelerated growth bances; if left untreated, death from liver fail-
with advanced bone age, hypertonia, camp- ure within 1–3 years of onset. Cause: Muta-
todactyly (permanently flexed fingers), intel- tions in the copper metabolism gene, ATP7B,
lectual disability. Cause: Mutations have been on chromosome 13q14.3–q21.1 lead to intra-
identified in the NSD1 gene on chromosome cellular accumulation of copper in liver. Inher-
5q35. Inheritance: Select case reports suggest itance: AR. Prevalence: 1:30,000. As high as
AD inheritance, but most cases are isolated, 1:10,000 in China, Japan, and Sardinia. Treat-
suggesting NM. Prevalence: Unknown. ment: Administration of copper-chelating
References: Basel-Vanagaite, L. (2010). Acute agents in conjunction with a low copper diet.
lymphoblastic leukemia in Weaver syn- Liver transplant is used in those that fail to
drome. American Journal of Medical Genetics respond to medical therapy.
Part A, 152A(2), 383–386. References: Bruha, R., Marecek, Z., Pospisi-
Rio, M., Clech, L., Amiel, J., Faivre, L., Lyon- lova, L., Nevsimalova, S., Vitek, L., Mar-
net, S., Le Merrer, M. … Cormier-Daire, tasek, P. … Ferenci, P. (2011). Long-term
V. (2003). Spectrum of NSD1 mutations follow-up of Wilson Disease: Natural his-
in Sotos and Weaver syndromes. Journal of tory, treatment, mutations analysis and
Medical Genetics, 40, 436–440. phenotypic correlation. Liver International,
Williams syndrome Disease category: Mul- 31(1), 83–91.
tiple congenital anomalies/contiguous gene. Takeyama, Y., Yokoyama, K., Takata, K.,
Clinical features: Characteristic “elfin” facies Tanaka, T., Sakurai, K., Matsumoto, T.
(full lips and cheeks, fullness of area around … Sakisaka, S. (2010). Clinical features of
the eyes), short stature, starlike pattern to iris; Wilson disease: Analysis of 10 cases. Hepa-
hoarse voice, communication delay in early tology Research, 40(12), 1204–1211.
childhood, followed by increasing verbal Wolf-Hirschhorn syndrome Disease cat-
abilities later in life, characteristic friendly, egory: Multiple congenital anomalies/con-
talkative, extroverted personality, congeni- tiguous gene. Clinical features: Hypertelorism;
tal heart defect, often supravalvular aortic characteristic broad, beaked nose (“Greek
stenosis. Associated complications: Hypercalce- warrior helmet appearance”), downturned
mia (increased blood calcium level), stenosis mouth, short philtrum, microcephaly,
(stricture) of blood vessels, kidney anoma- marked intrauterine growth retardation and
lies, hypertension, joint contractures, mild premature birth, ear anomalies, severe intel-
to moderate intellectual disability (but with lectual disability with reductions in recep-
characteristic strength in verbal abilities). tive and expressive language. Associated com-
Cause: Microdeletion of a segment of chro- plications: Hypotonia, psychomotor delays,
mosome 7q11.23 consisting of approximately growth delay, renal anomalies, hypodontia
28 genes. Inheritance: AD; all cases are the (decreased number of teeth) resulting in
800 Simpson
feeding problems, seizures, occasional heart Stochholm, K., Stochholm, K., Juul, S., &
defect or cleft palate. Cause: Partial dele- Gravholt, C.H. (2010). Mortality and inci-
tion of 4p16.3; some research shows that the dence in women with 47, XXX and variants.
LEMT1 gene may be responsible as well as American Journal of Medical Genetics Part A,
the Wolf-Hirschhorn syndrome candidate-1 152(A), 367–372.
gene (WHSC1). Inheritance: Occurs as a result XXY syndrome See Klinefelter syndrome.
of a NM; recurrence risk is greater if par- XYY syndrome Disease category: Chromo-
ent has a balanced translocation. Prevalence: some abnormality. Clinical features: Subtle
1:50,000. findings, including tall stature, severe acne,
References: Battaglia, A., Filippi, T., & Carey, large teeth. Associated complications: Poor fine-
J.C. (2008). Update on the clinical features motor coordination; learning disabilities;
and natural history of Wolf-Hirschhorn language delay; varying degrees of behavioral
(4p-) syndrome: Experience with disturbances, including tantrums and aggres-
87 patients and recommendations for rou- sion; increased risk for autism. Cause: Extra
tine health supervision. American Journal of Y chromosome resulting from nondisjunc-
Medical Genetics Part C, 154C(4), 246–251. tion. Inheritance: NM; usually nondisjunc-
Fisch, G.S., Grossfeld, P., Falk, R., Battaglia, tion chromosomal abnormality, may recur in
A., Youngblom, J., & Simensen, R. (2010). families in presence of parental translocation.
Cognitive-behavioral features of Wolf- Prevalence: 1:1,000.
Hirschhorn syndrome and other subtelo- References: Leggett, V., Jacobs, P., Nation, K.,
meric microdeletions. American Journal of Scerif, G., & Bishop, D.V. (2010). Neuro-
Medical Genetics Part C, 154C(4), 417–426. cognitive outcomes of individuals with a sex
X-linked ALD See adrenoleukodystrophy. chromosome trisomy: XXX, XYY, or XXY:
XXX (trisomy X; 47,XXX); XXXX (tetra- A systematic review. Developmental Medicine
somy X); and XXXXX (pentasomy X) and Child Neurology, 52(2),119–129.
syndromes Disease category: Chromosome Ross, J.L., Zeger, M.P., Kushner, H., Zinn,
abnormality. Clinical features: Females with A.R., & Roeltgen, D.P. (2009). An extra X
XXX syndrome generally have above-aver- or Y chromosome: Contrasting the cogni-
age stature but otherwise typical physical tive and motor phenotypes in childhood in
appearance; 70% have significant learning boys with 47, XYY syndrome or 47, XXY
disabilities; language delay/problems are also Klinefelter syndrome. Developmental Dis-
present in some girls. Significant malforma- abilities Research Reviews, 15(4), 309–317.
tions have been described in some patients Zellweger syndrome (cerebrohepatore-
including gonadal dysgenesis (nonfunctional nal syndrome) Disease category: Multiple
ovaries), dsymorphic facial appearance, congenital anomalies/Peroxisomal disor-
atrophic or dysplastic (absent or shrunken) der. Clinical features: The most severe of
kidneys, and vaginal and uterine malforma- the known peroxisomal disorders; affected
tions. XXXX syndrome is associated with a infants have intrauterine growth retardation,
mildly unusual facial appearance, behavioral characteristic facies (high forehead, upslant-
problems, and moderate intellectual disabil- ing palpebral fissures, hypoplastic supraor-
ity. XXXXX syndrome presents with severe bital ridges, and epicanthal folds), hypoto-
intellectual disability and multiple physical nia, eye abnormalities (cataracts, glaucoma,
defects. Associated complications: Infertility, corneal clouding, retinitis pigmentosa), early
delayed pubertal development. Cause: Non- onset of seizures. Death occurs by 1 year of
disjunction during meiosis. Inheritance: NM; age in most cases. Associated complications:
usually nondisjunction chromosomal abnor- Severe feeding difficulties with poor weight
mality, may recur in families in presence of gain, liver disease, occasional cardiac disease,
parental translocation. Incidence: 1:800 live- extremity contractures, kidney cysts. Cause:
born females. Impaired peroxisome synthesis caused by
References: Ottesen, A.M., Aksglaede, mutations in a number of genes, including
L., Garn, I., Tartaglia, N., Tassone, F., peroxin-1 (PEX1) at chromosome 7q21–q22,
Gravholt, C.H. … Juul, A. (2010). Increased pereoxin-3 (PEX3) at chromosome 6, per-
number of sex chromosomes affects height oxin-5 (PEX5) at chromosome 12, peroxin-2
in a nonlinear fashion: A study of 305 (PEX2) at chromosome 8, peroxin-6 (PEX6)
patients with sex chromosome aneuploidy. at chromosome 6, peroxin-12 (PEX12), per-
American Journal of Medical Genetics Part A, oxin-26 (PEX26) at chromosome 22 (The
152(A), 1206–1212. peroxisome is a cellular organelle involved
in processing fatty acids). Inheritance: AR. spectrum disorder. Human Mutation, 32(1),
Prevalence: 1:50,000. 59–69.
References: Ebberink, M.S., Mooijer, P.A., Krause, C., Rosewich, H., & Gärtner, J.
Gootjes, J., Koster, J., Wanders, R.J., & (2009). Rational diagnostic strategy for
Waterham, H.R. (2011). Genetic classifica- Zellweger syndrome spectrum patients.
tion and mutational spectrum of more than European Journal of Human Genetics, 17(6),
600 patients with a Zellweger syndrome 741–748.
C Commonly
Used Medications
Michelle L. Bestic
This appendix contains information about discussed with a health care provider familiar
commonly used medications but is not meant with the individual’s medical background.
to be used to prescribe medication. The generic
name of each drug is in capital letters. The
trade name is in parentheses; not all prepara-
REFERENCES
tions are included. The drug categories, uses, Children’s National Medical Center. (2006). CNMC
standard applications, and common side effects Hospital Formulary (Intranet version). Washington,
DC: Author.
are listed. Please note that uses and standard MICROMEDEX Thomson Healthcare. (1974–2006).
applications may change during the life of this MICROMEDEX Healthcare Series: Vol. 125. Green-
edition and that additional side effects may be wood Village, Co: Author.
discovered. Drug interactions and contraindi- Taketomo, C.K., Hodding, J.H., & Kraus, D. M. (Eds).
(2011–2012). Pediatric dosage handbook (18th ed.).
cations such as hepatic or renal insufficiency are
Cleveland, OH: Lexicomp.
not included; use of any medication should be
803
804
Medication Category Use(s) Standard applications Side effects
ACYCLOVIR (Zovirax) Antiviral agent Used primarily to treat or prevent C, L, O, T, and injection: varies with Renal impairment, malaise, headache,
infections caused by herpes clinical situation gastrointestinal irritation, rash/hives,
simplex viruses or varicella elevated liver function tests, adverse
hematologic effects
ALPRAZOLAM (Xanax, Xanax Benzodiazepine Anxiety, panic attacks T, L: Titrate starting at minimal Drowsiness, fatigue, depression,
XR) doses of 0.125 mg three times decreased salivation, dysarthria,
daily; safety and efficacy in chil- ataxia, addictive potential; avoid
dren <18 is not known abrupt withdrawal
AMITRIPTYLINE (Elavil) Tricyclic antidepres- Depression, migraine prophylaxis, T, injection: 1–1.5 mg/kg/day, given Sedation, dry mouth, blurred vision,
sant neuropathic pain, anxiety in three doses; not recommended dizziness, urinary retention, confusion;
for children <12 years cardiac arrhythmia (rarely)
AMOXICILLIN (Amoxil) Antibiotic Treatment of susceptible infec- C, T, L, chewables: 20–90 mg/kg/ Diarrhea, rash, nausea, allergic reactions
tions most commonly acute day, given in two to three doses
otitis media, upper respiratory or
respiratory tract, and so forth.
AMOXICILLIN AND CLAVU- Antibiotic, penicillin Treatment of susceptible infections, T, L, chewables: 50 mg/kg/day, Diarrhea (worse than with amoxicillin
LANIC ACID (Augmentin, including otitis media, sinusitis, given in two doses alone), rash, nausea
Augmentin ES, XR) pneumonia, and so forth.
AMPHETAMINE salts Stimulant Attention-deficit/hyperactivity C, T: One to three doses daily; Insomnia, loss of appetite, emotional
(Amphetamine, Dextro- disorder, narcolepsy not recommended for children lability, addictive potential, arrhyth-
amphetamine, Lisdexam- younger than 3 years; 3-to-5-year- mia, visual disturbances; not recom-
fetamine; Adderall and old: 2.5 mg/day initially, with an mended for children younger than 3
Adderall XR, Dexedrine, increase of 2.5 mg/week until years of age; caution in seizure and
Vyvanse) optimal response; children older cardiac patients
than 6 years: 5 mg once or twice
daily initially, with an increase of 5
mg/week until optimal response;
extended release is dosed once
daily
ARIPIPRAZOLE (Abilify) Antipsychotic, atypical Bipolar disorder, agitation, psycho- T, L: Initial 2 mg daily titrate after Nausea, weight gain, akathisia, somno-
sis, Tourette syndrome, autism one week to 5 mg then titrate (if lence, extrapyramidal effects, fatigue,
spectrum disorder needed) weekly by 5 mg incre- blurred vision; rarely blood dyscrasias
ments to max 30 mg/day
ATOMOXETINE (Strattera) Norepinephrine Attention-deficit/hyperactivity C: Initial: 0.5 mg/kg/day, increase Headache, palpitations, decreased
reuptake inhibitor, disorder after minimum of 3 days to ~1.2 appetite, abdominal pain, nausea,
selective mg/kg/day; may administer as vomiting, weight loss; FDA warning
either a single daily dose or 2 letter cautions about severe liver
evenly divided doses in morning injury
and late afternoon/early evening;
maximum daily dosage: 1.4 mg/
kg or 100 mg, whichever is less
BACLOFEN Skeletal muscle relax- Spasticity of cerebral or spinal T: 5 mg, two or three times daily ini- Drowsiness, muscle weakness, con-
ant origin tially; increase by 5 mg every 4–7 stipation, rarely nausea, dizziness,
days to a maximum of 30–80 mg/ paresthesia (numbness and tingling);
day; Intrathecal: 50–600 mcg/day abrupt withdrawal can cause severe
delivered by implantable pump sequelae
BENZTROPINE (Cogentin) Anticholinergic Movement disorders associated T, injection: Initiate therapy Gastrointestinal upset, drowsiness, diz-
with antipsychotics such as 0.02–.05 mg/kg/dose; gradually ziness or blurred vision, dry mouth,
haloperidol increase in increments of 0.5 mg difficult urination, constipation,
twice daily; maximum dosage: tachycardia
6 mg/day
BOTULINUM TOXIN A Antispasticity agent Spasticity in cerebral palsy and Injections are administered by a Diffuse skin rash, paralysis with over-
(Botox) spinal cord injury, strabismus, qualified practitioner; the total dose, muscle weakness
migraines dosage (usually 4 units/kg) is
divided between affected limbs
every 2–3 months
BUDESONIDE (Pulmicort, Corticosteroid, Maintenance and prophylactic Nebulized: 0.25-1 mg/day Nausea, cough, oral candidiasis, hoarse-
Rhinocort) inhaled, nasal, treatment of asthma, rhinitis, Inhaled: 180–1200 mcg/day as ness, dry mouth, epistaxis (bloody
systemic nasal polyps, Crohn’s disease single dose or twice daily nose)
Nasal: 1–2 sprays in each nostril
daily
BUPROPION (Wellbutrin, Antidepressant Depression, attention-deficit/ T: Safety and efficacy in children Decreased seizure threshold, nau-
SR, XL, Budeprion SR, XL, (dopamine re- hyperactivity disorder, smoking <18 years has not been estab- sea, agitation, anxiety, insomnia,
Zyban) uptake inhibitor) cessation lished; adult dosage range decreased appetite, tachycardia,
150–450 mg/day headache, dry mouth; FDA warns of
possible increased suicidal risks in
children and adolescents
BUSPIRONE (BuSpar) Antianxiety agent Anxiety, aggression, depression, T: Safety and efficacy in children Chest pain, ringing in the ears, diz-
attention-deficit/hyperactivity <18 years has not been estab- ziness, drowsiness, restlessness,
disorder lished dyskinesia (rare)
Key: C, capsule; IM, intramuscularly; L, liquid suspension or elixir; O, ointment; P, powder; S, suppository; T, tablet. (continued)
805
806
CALCIUM UNDECYLENATE Skin agent Diaper rash O, P: Apply three or four times daily Irritation, allergic reaction
(10%; Caldesene powder) after bath or changing
CARBAMAZEPINE (Carba- Antiepileptic Epilepsy–partial, generalized or C, T, L, chewable: 5–20 mg/kg/day; Unsteady gait, double vision, drowsi-
trol; Tegretol, Tegretol XR) mixed seizures; bipolar disorder, blood level should be maintained ness, slurred speech, dizziness,
neuralgia, agitation at 4–14 mcg/ml tremor, headache, nausea, abnormali-
ties in liver function, hypersensitivity
reactions with very bad rashes espe-
cially in people of Asian descent; FDA
warning of reported aplastic anemia
and agranulocytosis
CARNITINE (also called Nutritional supple- Primary and secondary carnitine T, L, injection: 50–100 mg/kg/ day Nausea, vomiting, abdominal cramps,
L-CARNITINE; Carnitor) ment deficiency, especially in inborn divided into doses given every 6 diarrhea, body odor, chest pain,
errors of metabolism; valproic hours; titrate slowly to therapeutic headaches, hypertension with IV
acid–induced deficiency response. Maximum 399 mg/kg
or 3g.
CEPHALEXIN (Keflex, Biocef) Antibiotic Used to treat susceptible infections C, T, L: 25–100 mg/kg/day divided Headache, rash, nausea, vomiting, diar-
of the respiratory tract, skin, and every 6–8 hours; maximum rhea, hypersensitivity
urinary tract; prophylaxis against dosage: 4,000 mg/day
infective endocarditis
CETIRIZINE (Zyrtec) Antihistamine, alpha/ Allergies, itching T, C, L: 6–12 months 2.5 mg daily; Dry mouth, headache, nausea, somno-
beta agonist decon- 12 months–2 years 2.5 mg daily or lence
gestant twice daily; 2–5 years 5 mg daily
or divided twice daily; >6 years
5–10 mg daily
CHLORAL HYDRATE Hypnotic, nonbenzo- Sedation C, S, syrup: 5–15 mg/kg every 8 Gastrointestinal irritation, dizziness,
(Aquachloral, Noctec) diazepine hours to a maximum dosage unsteady gait, hangover effect,
of  2 g/day paradoxical excitement, hypotension,
myocardial/respiratory depression,
hallucinations (rare)
CHLORPROMAZINE Antipsychotic, typical Psychosis, anxiety, aggression, T, S, C, injection, syrup, L: 2.5–6 Drowsiness, tardive dyskinesia (involun-
(Thorazine) severe hyperactivity in indi- mg/kg/day to a maximum of 40 tary movements of face and tongue),
viduals with intellectual disability mg in children younger than 5 hypotensive, weight gain, lower
(rarely used now because of years or 75 mg in children 5–12 seizure threshold, electrocardiogram
newer drugs with fewer side years old changes, agranulocytosis (depletion
effects), intractable hiccups, of white blood cells), rash, hyperpig-
nausea/vomiting mentation of skin
CIMETIDINE (Tagamet) Histamine (H2) Gastroesophageal reflux, gastric/ T, L: 20–40 mg/kg/day, given 4 Rarely diarrhea, headache, decreased
antagonist duodenal ulcers, mast cell times daily white blood count, liver toxicity
disease
CITALOPRAM (Celexa) Antidepressant Depression, panic disorder, T, L: Adult dosage 20–40 mg daily Somnolence, insomnia, nausea, dry
(selective serotonin obsessive-compulsive disorder mouth, increased sweating, agitation,
reuptake inhibitors) restlessness; FDA warns of possible
increased suicidal risks in children and
adolescents
CLARITHROMYCIN (Biaxin, Antibiotic Wide-spectrum drug used against T, L: 15 mg/kg/day, given twice daily Stomach upset, diarrhea, nausea, car-
XL) staph infection, strep throat, and for 7–14 days diac arrhythmias, but tolerated better
mycoplasma (“walking pneumo- than erythromycin
nia”) infections
CLOMIPRAMINE (Anafranil) Tricyclic antidepres- Obsessive-compulsive disorder, C: Initiate at 25 mg/day; gradually Drowsiness, dry mouth, blurred vision,
sant trichotillomania (hair-pulling increase during the first 2 weeks, flushing, constipation, central nervous
disorder) as tolerated, to a daily maximum system depression
of 3 mg/kg or 100–200 mg,
whichever is smaller
CLONAZEPAM (Klonopin) Benzodiazepine Seizures; infantile spasms; anxiety, T: 0.01–0.2 mg/kg/day (usual main- Sedation, hyperactivity, confusion,
panic disorders tenance dosage is 0.5–2 mg/day, depression; do not stop abruptly—
given twice daily) tolerance to the drug can develop
CLONIDINE (Catapres; Nexi- Alpha-2 adrenergic Hypertension, attention-deficit/ T: 0.005–0.025 mg/kg/day, increase Dry mouth, sedation, hypotension,
clon XR) agonist hyperactivity disorder, Tourette every 5–7 days as needed; drowsiness, dermatologic reac-
syndrome, pain management sustained-release patch. Oral sus- tions with patch. Do not discontinue
pension and tablets also available abruptly.
CLORAZEPATE (Tranxene) Benzodiazepine Adjunctive therapy for partial T: 3.75–7.5 mg/dose twice daily; Hypotension, drowsiness, dizziness (see
seizures, anxiety increase dosage by 3.75 mg at also side effects of DIAZEPAM)
weekly intervals, not to exceed 60
mg/day in two to three divided
doses
CLOTRIMAZOLE (Lotrimin, Antifungal, topical, Antifungal, Candida albicans Cream: Apply twice daily for 2–4 Skin irritation, peeling, nausea and
Mycelex) oral (yeast) infections weeks; Troche (oral) 10 mg dis- vomiting with oral
solved 3–5 times/day
CLOZAPINE (Clozaril, Atypical antipsychotic Schizophrenia in which standard T: 12.5–25 mg once or twice daily, Hypotension, seizure, weight gain,
Foxaclo) antipsychotic drug treatment has increase slowly to target response. sedation, extrapyramidal effects; FDA
not worked Usual range 25–400 mg/day warning for seizures, agranulocytosis,
(Note: All patients must be myocarditis, and other cardiovascular
registered in Novartis’ distribu- and respiratory effects
tion system prior to starting the
807
medication)
808
COLLOIDAL OATMEAL Skin treatment Dry skin, itching Oil, cleansing bar, cream, lotion: Allergic reaction
(e.g., Aveeno) Add to bath or apply as needed
CORTICOTROPIN (Acthar, Corticosteroid, sys- Infantile spasms and Lennox- Injection, IM, SC: 75 units/m2/dose Glucose in urine, hypertension, cata-
ACTH) temic Gastaut syndrome, many off- given twice daily; many regimens racts, brittle bones, altered behavior,
label uses exist, but ACTH is generally Cushing’s syndrome, immunosuppre-
used for weeks-months and then sion
tapered off slowly
CYPROHEPTADINE Histamine (H1) Allergies, migraines, appetite T, L: 0.25 mg/kg/day divided 2–3 Weight gain, nausea, gastrointestinal
(Periactin) antagonist stimulation, spasticity, urticaria times/day or 2–4 mg given 2–3 irritation, dry mouth, somnolence
times/day; Maximum 12–16 mg
DANTROLENE SODIUM Skeletal muscle relax- Spasticity in cerebral palsy or spinal C: 0.5 mg/kg twice daily initially; Weakness, drowsiness, lethargy, dizzi-
(Dantrium) ant cord injury, malignant hyperther- increase by 0.5 mg/kg every 4–7 ness, tingling sensation, nausea, diar-
mia prevention days to a maximum of 2 mg/kg/ rhea; FDA warning for hepatotoxicity
dose, given 2-4 times daily; injec- (liver function should be monitored);
tion for malignant hyperthermia long-term side effects in children are
not known
DESIPRAMINE (Norpramin) Tricyclic antidepres- Depression, anxiety, attention- T: Not recommended in children Hypotension, dizziness, constipation,
sant deficit/hyperactivity disorder, younger than 12 years; 1–5 mg/ somnolence, dry mouth, blurred
neuropathic pain kg/day in divided doses; maxi- vision, sudden death from cardiac
mum 150 mg/day arrhythmia (rarely); FDA warning of
possible increased risk of suicidal
thinking and behavior
DEXTROAMPHETAMINE Stimulant Attention-deficit/hyperactivity C, L, T (5 mg): 2.5–5 mg once Insomnia, restlessness, decreased appe-
(Dexedrine, Dexadrine- disorder, narcolepsy daily titrate weekly to response; tite, irritability, headache, abdominal
Spansules, DextroStat, Maximum 40 mg/day; sustained cramps, decreased appetite; FDA
Procentra) release available warning for potential for abuse,
cardiac events; not recommended for
children under 3 years of age
DIAZEPAM (Valium, Diastat) Benzodiazepine Sedation, aggression, anxiety, C, T, L: 0.12–0.8 mg/kg/day given Sedation, weakness, depression, ataxia,
spasticity, seizures, status epi- three to four times daily; Rectal memory disturbance, difficulty
lepticus gel (Diastat): Not recommended handling secretions and chewing/
for infants younger than 6 months; swallowing foods, anxiety, paradoxi-
safety and efficacy not established cal reactions (e.g., anxiety, agitation).
in children younger than 2 years; respiratory and cardiac depression,
2–5 years, 0.5 mg/kg; 6–11 years, rash, low white blood cell count; drug
0.3 mg/kg; older than 11 years, dependence can occur
0.2 mg/kg; not to exceed 20 mg/
dose; injection is available
DIPHENHYDRAMINE (Bena- Antihistamine Sedation, allergies, hives, extra- C, T, O, L: 5 mg/kg/day given at Sedation, insomnia, dry mouth, dizzi-
dryl, various brands) pyramidal symptoms, motion 6–8 hour intervals to a maximum ness, euphoria, gastrointestinal upset,
sickness dosage of 300 mg/day; injection paradoxical excitation
is available
DULOXETINE (Cymbalta) Antidepressant Depression, neuropathy, fibromyal- C: Adult dose: 20–60 mg/day; safety Dry mouth, nausea, diaphoresis, head-
(norepinephrine gia, anxiety and efficacy not established in ache, insomnia, fatigue, FDA warning
serotonin reuptake children <18 years of possible increased risk of suicidal
inhibitor) thinking and behavior; dizziness
DUODERM Skin treatment Skin ulcers/sores, second-degree Sterile occlusive dressing with Allergic reaction to tape or gel formula
burns, and minor abrasions hydroactive or gel formula
ERYTHROMYCIN (various Antibiotic, prokinetic Used against staph infection, strep C, O, T, L: 30–50 mg/kg/day, given Nausea, vomiting, diarrhea, cardiac
brands) agent throat, and mycoplasma (“walk- four times daily; injection is avail- dysrhythmias; interactions with other
ing pneumonia”) infections; able drugs
ERYTHROMYCIN (2%) Antibiotic, topical Acne Solution on pads: Apply to clean Skin dryness, peeling, skin irritation
(T-STAT) area twice daily
ESCITALOPRAM (Lexapro) Antidepressant Depression, anxiety, obsessive T, L: Children >12 years, initial 10 FDA warning of possible increased risk
(selective serotonin compulsive disorder, panic mg once daily increase to 20 mg of suicidal thinking and behavior
reuptake inhibitors) disorder after 3 weeks
ETHOSUXIMIDE (Zarontin) Antiepileptic Absence seizures C, L: 15–40 mg/kg/day, given twice Sedation, unsteady gait, anorexia, rash,
daily to a m aximum of 1.5 g/day; stomach distress, blood dyscrasias
blood level: 40–80 mcg/l
FAMOTIDINE (Pepcid) H2 antagonist Gastrosophageal reflux; ulcers, C, T, L: 1 mg/kg/day, given twice Headache, dizziness, constipation,
decreases stomach acidity daily with meals; maximum diarrhea
dosage: 80 mg/day; injection is
available
FELBAMATE (Felbatol) Antiepileptic Lennox-Gastaut syndrome; also T, L: 15–45 mg/kg/day divided 3-4 Anorexia, vomiting, insomnia, head-
effective in generalized and times/day ache, rash, risk of life-threatening
secondary generalized seizures, hepatitis and aplastic anemia; FDA
partial seizures recommends close monitoring
FLUCONAZOLE Antifungal Treatment or prophylaxis of sus- T, L: 6 mg/kg once on first day of Dizziness, headache, rash, increased
(Fluconazole,Diflucan) ceptible fungal infections, includ- therapy, then 3 mg/kg/ dose daily liver enzymes nausea; inhibits the
ing oral and vaginal Candida for 14–21 days; for vaginal candi- metabolism of many drugs so screen
albicans (yeast) infections diasis: a single 150 mg dose may for possible drug interactions
be given, injection is available
809
810
FLUOXETINE (Prozac) Antidepressant Depression, self-injurious behavior, T,C, L: Safety and efficacy in children Anxiety, agitation, sleep disruption,
(selective serotonin Tourette syndrome, obsessive- has not been established; adults decreased appetite, seizures; FDA
reuptake inhibitors) compulsive disorder, anxiety, should initially receive 20 mg/day warns of possible increased suicidal
bulimia, panic disorder in morning to a maximum dosage risks in children and adolescents
of 80 mg/day
FOSPHENYTOIN (Cerebyx) See PHENYTOIN; See PHENYTOIN See PHENYTOIN See PHENYTOIN
intravenous substi-
tute for phenytoin
FUROSEMIDE (Lasix) Diuretic Diuresis T, L, injection: 1 mg/kg/dose Electrolyte abnormalities
given 1–4 times daily; Maximum
6 mg/kg/dose
GABAPENTIN (Neurontin) Antiepileptic Adjunctive therapy in partial and C, T, L: 10–15 mg/kg/day titrated Sedation, dizziness, unsteady gait,
secondarily generalized seizures, up to 40–50 mg/kg/day in divided emotional lability; do not withdraw
neuropathic pain doses abruptly
GLYCOPYRROLATE (Robinul) Anticholinergic Decrease drooling in cerebral palsy T: 40–100 mcg/kg/dose every 3–4 Rapid heart rate, orthostatic hypo-
hours as needed for secretions; tension, drowsiness, blurred vision,
injection is available dry mouth, constipation
GUANFACINE (Tenex, Alpha-2 agonist Hypertension, attention-deficit/ T: Initial 1 mg/day may increase Dry mouth, sedation, hypotension,
Intuniv extended release) hyperactivity disorder, Tourette 1 mg/week to maximum dosage headache, nausea; do not discontinue
syndrome of 4 mg/day abruptly
HALOPERIDOL (Haldol) Antipsychotic, typical Self-injurious behavior, Tourette T, L: 0.01–0.03 mg/kg/day for agita- Extrapyramidal effects, hypotension,
syndrome, severe agitation, tion; 0.05–0.15 mg/kg/ day, in two nausea, vomiting, electrocardiogram
psychosis or three daily doses, for psychosis; changes, neuroleptic malignant
and 0.05–0.075 mg/kg/day, in two syndrome, lower seizure threshold in
or three daily doses, for Tourette epilepsy, anticholinergic effects
syndrome, IM
HYDROCORTISONE (e.g., Corticosteroid, topical Eczema, dermatitis O, cream, gel, liquid: Apply thin Skin irritation, dryness, rash
Caldecort, Cort-Dome, film 2–4 times daily
Hytone)
HYDROCORTISONE, Corticosteroid + anti- Steroid-responsive skin conditions O, cream: Apply sparingly and mas- Local irritation
POLYMYXIN-B, NEOMY- biotic, topical with secondary infection sage into skin two or three times
CIN (Cortisporin) daily.
IBUPROFEN (Advil, Motrin) Nonsteroidal anti- Inflammatory diseases and rheuma- C, T, L: 5–10 mg/kg/dose given Gastrointestinal irritation, rash, dizzi-
inflammatory toid disorders, including juvenile every 6–8 hours; maximum dose: ness, increased bleeding risk, renal
(NSAID) rheumatoid arthritis (JRA); mild 40 mg/kg/day; JRA: 30–50 mg/ effects (higher doses; elderly); caution
to moderate pain; fever; dys- kg/day in 3–4 divided doses; start in ulcer and renal patients; FDA
menorrhea; migraines at lower end of dosing range and warning of possible increased risk of
titrate; maximum: 2.4 g/day; Pain: cardiovascular thrombotic events and
4–10 mg/kg/dose every 6–8 hours serious gastrointestinal events
IMIPRAMINE (Tofranil, Tricyclic antidepres- Depression, enuresis, neuropathy C, T: 1.5 mg/kg/day, given in three Dry mouth, drowsiness, constipation,
Janimine) sant daily doses to a maximum dosage electrocardiogram abnormalities,
of 5 mg/kg/day; enuresis 25 mg at increased blood pressure, urinary
bedtime, increase to 50 mg if no retention, FDA warning of possible
response increased risk of suicidal thinking and
behavior
ISOTRETINOIN (Accutane, Skin treatment Severe acne C: 0.5–2 mg/kg/day, given in two Drying of mucous membranes, photo-
Claravis) divided doses for 15–20 weeks sensitivity, dry skin, cheilitis, itching,
retinoid dermatitis; known teratogen:
must be part of iPledge program to
receive to eliminate fetal exposure
LAMOTRIGINE (Lamictal) Antiepileptic Adjunct or monotherapy for a vari- T, L: Initial 0.3 mg/kg/day in 1–2 Sedation, dizziness, ataxia, headaches,
ety of seizures; bipolar disorder doses titrated slowly (every 2 nausea, vomiting, severe and poten-
weeks) to usual maintenance dose tially life-threatening skin reactions
of 4.5–7.5 mg/kg/day (lower dose
if coadministered with valproic
acid)
LANOLIN, PETROLATUM, Skin treatment Diaper rash O: Apply thin film at each diaper Allergic reaction
VITAMINS A and D, change
MINERAL OILS (A & D
Ointment)
LANSOPRAZOLE (Prevacid) Proton pump inhibitor Treatment or relief of ulcers, C, L, T: 15–30 mg given once or Abdominal pain, nausea, flatulence,
gastroesophageal reflux disease; twice daily depending on age increased appetite, headache,
adjuvant therapy in the treat- and condition treated; maximum fatigue, rash
ment of Helicobacter pylori dosage: 60 mg/day; injection (IV)
associated gastritis is available
LEVETIRACETAM (Keppra) Antiepileptic Adjunctive therapy in a variety of T, L: Initially, 20 mg/kg/day divided Somnolence, nausea, anorexia, dizzi-
seizure types, migraine prophy- twice daily. Dosage is increased ness, behavior changes, irritability
laxis to 40–60 mg/kg/ day as tolerated;
Maximum daily dosage: 3,000
mg/day; injection is available
811
812
LEVOTHYROXINE (Syn- Thyroid product Hypothyroidism T: <1 year 6–15 mcg/kg/day; 1–5 Heart palpitations, nervousness, tremor,
throid, Levothroid, Levoxyl) years, 5–6 mcg/kg/ day; 6–12 excessive sweating, diarrhea, weight
years, 4–5 mcg/ kg/day; older loss
than 12 years, 2–3 mcg/kg/day;
injection is available
LINDANE (Kwell) Antiparasitic, topical Scabies and lice Cream, lotion: Apply thin layer and None with prescribed use; FDA warning
massage into body from neck of risk of seizures with overuse in
down; wash off after 8–12 hours; small children; should be reserved for
Shampoo: apply to dry hair, mas- patients who do not respond to other
sage thoroughly into hair, and treatments
leave on for 4 minutes; then form
lather and rinse well
LITHIUM CARBONATE (Eska- Antipsychotic Mood stabilizer, bipolar disorder, C, T, L: 15–60 mg/kg/day divided Sedation, confusion, seizures, rash,
lith, Lithobid) depression in three to four doses; do not hypothyroidism, diarrhea, muscle
exceed 1,800 mg/day. Therapeu- weakness, gastrointestinal irritation,
tic range: mania, 0.6–1.5 mEq/l; renal dysfunction, tremor
bipolar disorder, 0.8–1 mEq/l
LORATADINE (Claritin, Antihistamine H1 Allergies, urticaria C,T,L: 2–5 years 5 mg daily; >6 years Sedation, dry mouth, headache
Alavert) antagonist 10 mg daily
LORAZEPAM (Ativan) Benzodiazepine Anxiety, status epilepticus, agita- T, L, injection: 0.05 mg/kg/dose Sedation, weakness, depression,
tion, sedation, antiemetic every 4–8 hours as needed; do unstable gait, memory disturbance,
not exceed 4 mg/dose, IM difficulty handling secretions and
chewing/swallowing foods
MAGNESIUM HYDROX- Antacid, laxative Antacid for reflux; also helps treat T, L: 2–4 teaspoons with meals and Minimal; may accumulate in renal dys-
IDE AND ALUMINUM constipation at bedtime function patients
HYDROXIDE (Alamag)
METHYLPHENIDATE/ Stimulant Attention-deficit/hyperactivity C,L,T, patch: Dose varies with each Appetite suppression, insomnia,
DEXMETHYLPHENIDATE disorder product. Generally do not exceed arrhythmia, anxiety, headache,
(e.g., Concerta, Daytrana, 60 mg/day irritability
Metadate, Metadate CD,
Metadate ER, Methylin,
Methylin ER, Ritalin, Day-
trana; Focalin, Focalin XR)
METHYLPREDNISOLONE Corticosteroid Reduction of airway inflammation Injection: 1–2 mg/kg/dose; Orally: Side effects usually mild with short-term
(Solu-Medrol, Medrol) during acute asthma attacks, 1–2 mg/kg/dose, twice daily for use
inflammatory conditions, many 3–5 days
others
METOCLOPRAMIDE Prokinetic agent Antireflux, increases gastric T, L: 0.1–0.5 mg/kg/day, given four Acute movement disorder (dystonia),
(Reglan) emptying times daily drowsiness, sedation, anxiety, leuko-
penia
MICONAZOLE (2%; e.g., Antifungal, topical Antifungal, Candida albicans S, O, cream: Apply twice daily for Skin irritation, peeling, pruritis
Monistat) (yeast) infections 2–4 weeks
MINERAL OIL (e.g., AlphaK- Skin treatment, Emollient for dry skin Soap, oil, spray: Add to bath or rub Allergic reaction (topical) nausea and
eri, Fleet enema) laxative into wet skin as needed; rinse; diarrhea (oral)
Oral: 1–3 ml/kg/day
MINERAL OIL, PETROLA- Skin treatment Emollient for dry skin, constipation Cream, lotion, bath oil: Apply as Allergic reaction
TUM, LANOLIN (Nivea, needed
Lubriderm)
MONTELUKAST (Singulair) Leukotriene receptor Asthma, allergies T, granules, sprinkles: 6 months–5 Headache, altered behavior, eosino-
antagonist years 4 mg daily; 6–14 years 5mg philia (rare)
daily; >15 10 mg daily
MUPIROCIN (2%; Bactroban) Antibiotic, topical Antibiotic for impetigo, secondary O: Apply sparingly three times daily; Burning, itching, pain at site of
infections of skin ulcers, burns may cover with gauze application
NALTREXONE (ReVia) Opioid antagonist Opiate antagonist for treatment of T: 50 mg/day in adults; safety and None in opioid-free individuals
self-injurious behavior efficacy in children <18 years has
not been established
NORTRIPTYLINE (Pamelor, Tricyclic antidepres- Depression, neuropathic pain, noc- C, T, L: Not recommended for Dry mouth, drowsiness, constipation,
Aventyl) sant turnal enuresis, attention-deficit/ children <12 years; Usual dosage electrocardiogram abnormalities,
hyperactivity disorder 10–60 mg/day mania, sedation; FDA warning of pos-
sible increased risk of suicidal thinking
and behavior
NYSTATIN (Mycostatin) Antifungal Treatment of yeast and thrush O,T P, cream: Apply twice daily; Diarrhea (reported with oral form), red-
infections in the mouth and Oral suspension: Swish and ness, skin irritation, gastrointestinal
gastrointestinal tract swallow 400,000–600,000 units 4 upset
times/day
OLANZAPINE (Zyprexa) Antipsychotic, atypical Treatment of the manifestations T, C, injection (IM): Start at 2.5 mg Edema, weight gain, hyperglycemia,
of psychotic disorders, Tourette once daily; titrate dose weekly as somnolence, orthostatic hypotension,
syndrome, anorexia nervosa, required, up to a maximum dos- increase in lipids, akathisia, asthenia,
autism spectrum disorder age of 20 mg/day dizziness, tremor, FDA warning of
possible increased risk of suicidal
thinking and behavior
813
814
OMEPRAZOLE (Prilosec) Proton pump inhibitor Treatment or relief of ulcers, L, C, T: Dose varies with age from Abdominal pain, diarrhea, nausea,
gastroesophageal reflux disease; 5–20 mg daily or given in divided flatulence, increased appetite, taste
adjuvant therapy in the treat- doses twice daily; maximum dos- changes, headache
ment of Helicobacter pylori age: 40 mg/day
associated gastritis
OXCARBAZEPINE (Trileptal) Antiepileptic Generalized tonic-clonic, com- T, L: 8–10 mg/kg in two divided Ataxia, dizziness, gastrointestinal irrita-
plex partial, and simple partial doses, usually not to exceed tion, headache, somnolence, tremor,
seizures as both adjunctive and 600 mg/day; do not exceed the vision disturbances, hyponatremia
monotherapy maximum adult dosage of 2,400
mg/day
OXYBUTYNIN (Ditropan) Antispasmodic agent, Antispasmodic for neurogenic T, L: 0.2 mg/kg/dose 2–4 times/day Palpitations, drowsiness, dizziness,
urinary bladder or 5 mg twice daily, up to 5 mg 3 insomnia, dry mouth, nausea, vomit-
times/day, maximum: 15 mg/day, ing, constipation, urinary hesitancy or
patch; topical gel one packet/day retention, blurred vision, decreased
tears, decreased sweating
PAROXETINE (Paxil) Antidepressant Depression, obsessive-compulsive T, L: 10–20 mg/day to start; increase Somnolence, headache, insomnia, nau-
(selective serotonin disorder, anxiety disorders, self- dosage as needed by 10 mg/day sea, constipation, decreased appe-
reuptake inhibitor) injurious behavior weekly. Maximum dosage is 60 tite, palpitations, asthenia, sexual
mg/day dysfunction; FDA warns of possible
adolescents
PENICILLIN (e.g., Pen V K) Antibiotic Drug of choice for strep throat, T, L: 25–50 mg/kg/day, given 3–4 Allergic reactions, diarrhea, nausea
which in severe cases can be times daily for 7–14 days; injection
treated by a single intramuscular is available
injection of Bicillin
PERMETHRIN (Nix, Elimite) Antiparasitic, topical Scabies and lice Cream, lotion: Apply thin layer and Pruritis, hypersensitivity, burning, sting-
massage into body from neck ing, rash
down; wash off after 8–14 hours;
Shampoo: Apply to towel-dried
hair, massage thoroughly into hair,
and leave on for 10 minutes; then
rinse well. May repeat in 1 week if
live mites reappear.
PETROLATUM, MINERAL Skin treatment Emollient for dry skin, itching Cream, lotion, facial lotion with Allergic reaction
OIL AND WAX, ALCOHOL sunscreen, cleansing bar: Apply
(Eucerin) as needed
PHENOBARBITAL (Luminal) Antiepileptic Generalized tonic-clonic, simple C, T, L: 2–5 mg/kg/day for children; Paradoxical hyperactivity, sedation,
partial, and secondarily general- 1–2 mg/kg/day for adolescents; learning difficulties in older chil-
ized seizures therapeutic blood level: 15–40 dren, behavioral difficulties in 50%
mcg/ml, injection is available of children younger than 10 years,
irritability, unsteady gait, respiratory
depression
PHENYTOIN (Dilantin) Antiepileptic Generalized tonic-clonic and com- C, T, injectable, suspension: Main- Swelling of gums, excessive hairiness,
plex partial seizures tenance dosage: 4–10 mg/kg/day; rash, coarsening of facial features,
blood level:10–20 mcg/ml; free possible adverse effects on learning
level: 1–2 mcg/ml, chewable and behavior; risk of birth defects if
taken during pregnancy; nystagmus
and unsteady gait with toxic levels;
blood dyscrasias; decreased bone
density
PREDNISOLONE (Prelone) Corticosteroid, Reduction of airway inflammation T, L: 1 mg/kg/dose, twice daily for Side effects usually mild with short-
systemic during acute asthma attacks, 3–5 days, injection; doses vary term use but may result in headache,
inflammatory conditions (many), depending on condition treated mood changes, hypertension or
nephrotic syndrome edema; long-term use may result in
congestive heart failure, osteoporosis,
weight gain, increased risk of infec-
tion, Cushing’s syndrome, glaucoma,
and thinning skin
PREDNISONE (Deltasone) Corticosteroid, sys- Reduction of airway inflammation T, L: 1 mg/kg/dose, twice daily for Side effects usually mild with short-
temic during acute asthma attacks, 3–5 days; doses vary depending term use but may result in headache,
inflammatory conditions (many) on condition treated mood changes, hypertension or
edema; long-term use may result in
congestive heart failure, osteoporosis,
weight gain, increased risk of infec-
tion, Cushing’s syndrome, glaucoma
and thinning skin
PRIMIDONE (Mysoline) Antiepileptic Generalized tonic-clonic and com- T, L: 10–25 mg/kg/day for children; Drowsiness, dizziness, nausea, vomit-
plex partial seizures 125–250 mg three times daily for ing, leucopenia (low white blood cell
adolescents; therapeutic blood count), systemic lupuslike syndrome,
level: 5–12 mcg/ml, also metabo- nystagmus (jerky eye movements),
lized to phenobarbital (of which personality change (see also side
therapeutic blood level is 15–40 effects of PHENOBARBITAL)
mcg/ml)
815
816
QUETIAPINE (Seroquel) Antipsychotic, atypical Bipolar disorder, psychosis, depres- T: Children >10 years: 50 mg Hyper or hypotension, elevated lipids,
sion, autism spectrum disorder divided twice daily titrated up to weight gain, gastrointestinal irritation,
lowest effective dose. Maximum somnolence, tremor, extrapyramidal
dosage: 600 mg/day effects, dizziness, asthenia, FDA
warning of possible increased risk of
suicidal thinking and behavior
RANITIDINE (Zantac) Histamine H2 antago- Gastroesophageal reflux (decreases C, T, L: 2–8 mg/kg/day, given twice Headache, gastrointestinal upset, rarely
nist stomach acidity), ulcers daily; injection liver toxicity
RISPERIDONE (Risperdal) Antipsychotic, atypical Self-injurious behavior, psychosis, T, L: Pediatric patients may start with Hypotension, sedation, dizziness, move-
Tourette syndrome, aggres- 0.25–0.5 mg twice daily; slowly ment disorder, headache, constipa-
sion, pervasive developmental increase as needed; dosages tion, weight gain, urinary retention,
disorders greater than 10 mg/day should be agranulocytosis
avoided.
SELENIUM SULFIDE (2.5%; Skin treatment Scalp conditions (dandruff or Lotion, shampoo: Apply to wet Skin irritation, dry or oily scalp, hair loss
Selsun Blue) seborrhea) scalp, wait 3 minutes, rinse, and discoloration
repeat; use twice a week for 2
weeks, and then as needed
SERTRALINE (Zoloft) Antidepressant Depression, anxiety, obsessive- T, L: 50 mg/day initially to a maxi- Somnolence, headache, agitation,
(selective serotonin compulsive disorder, posttrau- mum of 200 mg/day in adults; sleep disruption, decreased appetite,
reuptake inhibitors) matic stress syndrome safety and efficacy not established nausea, diarrhea, tremors, sweat-
in children ing, seizures; FDA warns of possible
adolescents
THEOPHYLLINE (Aerolate Respiratory agent Bronchodilator; may be used in C, T, L: Ages 6 weeks to 6 months: Nausea, vomiting, stomach pain (espe-
Slo-Bid, Theo-Dur, Uniphyl) conjunction with other treat- 10 mg/kg/day; children ages 6 cially common at high blood levels),
ments for acute or chronic months to 1 year: 12–18 mg/ gastroesophageal reflux, anorexia,
asthma kg/day; children ages 1–9 years: nervousness, tachypnea
20–24 mg/kg/day; children ages
9–12 years: 20 mg/kg/day; chil-
dren ages 12–16 years: 18 mg/kg/
day; maximum adult dosage: 900
mg/day; injection (IV) is available,
IM
THIORIDAZINE (Mellaril) Antipsychotic, typical Self-injurious behavior, psychosis T, L: Not recommended for children Drowsiness, hypotension, movement
<2 years; children ages 2–12 disorder, electrocardiogram abnor-
years: 0.5–3 mg/kg/day; children malities, retinal abnormalities; FDA
>12 years with mild disorders: warning for QT prolongation on
10 mg, two or three times daily; electrocardiogram
children >12 years with severe
disorders: 25 mg, two or three
times daily
THIOTHIXENE (Navane) Antipsychotic, typical Self-injurious behavior, psychosis C, L: 2 mg, three times daily, Movement disorder (tardive dyskinesia),
increase to 20–30 mg/day if neuroleptic malignant syndrome,
needed; not recommended for rapid heart rate, hypotension, drowsi-
children <12 years ness, bone marrow suppression
TIAGABINE (Gabitril) Antiepileptic Adjunct for partial seizures T: 12–18 years: initially 4 mg once Dizziness, headache, sleepiness, central
daily for 1 week; then 8 mg/day nervous system depression, memory
in two divided doses for 1 week; disturbance, unsteady gait, emotion-
then increase weekly by 4–8 mg/ ality, tremors, abdominal pain
day; increase weekly by 2–4 mg/
day in two to four divided doses
daily; titrate dosage to response;
maximum dosage: 32 mg/day
TOLNAFTATE (Tinactin) Antifungal, topical Antifungal, ringworm Cream, P: Apply small amount of Nontoxic, skin irritation
cream or powder to affected area
2–3 times a day for 2–4 weeks
TOPIRAMATE (Topamax) Antiepileptic Refractory partial seizures, Lennox- T, sprinkles: Initially 1–3 mg/ kg/day Edema (swelling), language problems,
Gastaut syndrome in two divided doses for 1 week, abnormal coordination, depression,
then increase by 1–3 mg/kg/ difficulty concentrating, fatigue,
day each week; titrate dosage to dizziness, unsteady gait, sleepiness,
response; usual dose range: 6–9 weight loss, somnolence, weakness,
mg/kg/day in two divided doses; nystagmus; seek immediate medical
some children may require more attention if blurry vision occurs
than 15 mg/kg/day
TRIAMCINOLONE (Kenalog, Corticosteroid, Eczema, dermatitis T, L, O, P, cream, lotion: Apply thin Skin irritation, rash, dryness,
Aristocort [skin]; Azmacort inhaled, systemic, film two to four times daily
[respiratory]) topical
TRIMETHOPRIM AND SUL- Antibiotic Treatment or prophylaxis of T, L: 8–20 mg/kg of TMP/day, given Bone marrow suppression (rare), allergic
FAMETHOXAZOLE (TMP/ susceptible infections, includ- twice daily; injection is available reactions, photosensitivity, gastroin-
SMZ) (Bactrim, Septra) ing urinary tract infections, otitis testinal irritation, rash
media, sinusitis, and so forth.
817
818
VALPROIC ACID (Depakene, Antiepileptic, mood Myoclonic, simple absence, and C, syrup, sprinkle, injection:15–60 Hair loss, weight loss or gain, abdominal
Depacon, Depakote) stabilizer generalized tonic-clonic seizures; mg/kg/day; therapeutic blood distress, tremor, agranulocytosis, low
Lennox-Gastaut syndrome; level: 50–100 mcg/ ml; Depakote platelet count; risk of birth defects if
infantile spasms; also used to ER may be dosed less frequently taken during pregnancy; FDA warning
treat aggression and mood than the other preparations for potentially fatal liver damage (risk
disorders, bipolar disorder, is 1/800 in children with developmen-
impulsive aggression, intermit- tal disabilities <2 years who are taking
tent explosive disorder, migraine more than one antiepileptic drug) and
prophylaxis pancreatitis
VENLAFAXINE (Effexor, XR) Antidepressant Depression, anxiety, attention- T,C: Initial 12.5 mg/day increase Hypertension, diaphoresis, weight loss,
(norepinephrine- deficit/hyperactivity disorder, weekly by 12.5–25 mg of 75 mg gastrointestinal irritation, asthenia,
selective reuptake panic disorder daily insomnia, tremor, dizziness, som-
inhibitors) nolence, headache; FDA warns of
possible increased suicidal risks in
children and adolescents
ZINC OXIDE, COD LIVER Skin treatment Diaper rash O: Apply three or four times daily Allergic reaction
OIL, LANOLIN, PETROLA- after diaper change or bath
TUM (Caldesene ointment)
ZIPRASIDONE (Geodon) Antipsychotic, atypical Bipolar disorder, psychosis, agita- C: Doses of 5–40 mg/day have been Orthostatic hypotension, gastrointesti-
tion, Tourette’s syndrome reported; injection is available, IM nal irritation, hyperglycemia, weight
gain, extrapyramidal effects, insom-
nia, somnolence, QTc prolongation,
FDA warnings of blood dyscrasias
ZONISAMIDE (Zonegran) Antiepileptic Adjunctive therapy in partial C: Not approved < 16 years; adult Somnolence, dizziness, ataxia, loss of
seizures, infantile spasms, and dosing: 100 mg/day titrated every appetite, gastrointestinal discomfort,
Lennox-Gastaut syndrome 2 weeks by 100 mg to max of headache, agitation/irritability, confu-
400 mg/day sion, rash, visual disturbances
Key: C, capsule; IM, intramuscularly; L, liquid suspension or elixir; O, ointment; P, powder; S, suppository; T, tablet.
D Childhood Disabilities
Resources, Services,
and Organizations
This appendix lists a number of organizations, Established in 1912 as part of the Health Resources
Internet sources, and other resources that pro- and Services Administration (HRSA). Provides
vide services and assist in research in the area funding and governs programs designed to ensure
of childhood developmental disabilities. The equal access for all to quality health care in a sup-
resources cited are a representative sample portive, culturally competent, family, and com-
and are not intended to be all inclusive. A brief munity setting.
description follows each listing.
Office of Disability Employment Policy
http://www.dol.gov/odep
GENERAL One of the oldest presidential committees in
the United States. Promotes acceptance of peo-
Federal Agencies
ple with physical and intellectual disabilities in
Administration on the world of work, in both the public and the
Developmental Disabilities (ADD) private sectors. Promotes the elimination of
http://www.acf.hhs.gov/programs/add/ barriers, both physical and attitudinal, to the
Program within the U.S. Department of Health employment of people with disabilities.
and Human Services promoting the indepen-
Office of Special Education and
dence and economic and social well-being of
Rehabilitative Services (OSERS)
individuals with developmental disabilities and
http://www.ed.gov/about/offices/list/osers
their families by ensuring that needed services
Part of the U.S. Department of Education.
and assistance for community life are available
Responds to inquiries, and researches and
and that families participate in the design of
documents information on operations serving
such services.
the field of disabilities. Specializes in providing
Eunice Kennedy Shriver information on federal funding for programs
National Institute of Child Health serving people with disabilities, federal legisla-
and Human Development (NICHD) tion affecting individuals with disabilities, and
http://www.nichd.nih.gov/ federal programs benefiting people with dis-
Established in 1962 as part of the National abilities.
Institutes of Health. Funds research and offers
Social Security Administration
information related to human development,
http://www.ssa.gov
health, and developmental disabilities.
Mission is to advance the economic security of
Maternal and Child the nation’s people through compassionate and
Health Bureau (MCHB) vigilant leadership in shaping and managing
http://mchb.hrsa.gov America’s Social Security programs. Provides
819
820 Resources
information to the U.S. population on policy; transition to adult life. Publishes Research Con-
programs and services; and, more specifically, nections in Special Education and OSEP Digests.
resources for people with disabilities.
National Library of Medicine (NLM)
Finances http://www.nlm.nih.gov
Part of the National Institutes of Health. Is the
Children’s Defense Fund (CFD) world’s largest medical library and is a national
http://www.childrensdefense.org resource for all U.S. health sciences libraries.
Private nonprofit organization dedicated to edu- Collects materials in areas of biomedicine; health
cating about, advocating for, and studying the care; biomedical aspects of technology; humani-
needs of children, especially low-income children, ties; and the physical, life, and social sciences.
minority children, and children with disabilities.
Mission focuses on giving children a head start PubMed
(child care), a healthy start (child health), a fair http://www.ncbi.nlm.nih.gov/entrez/query.fcgi
start (family income), a safe start (violence pre- Search engine allows users to research and
vention, child welfare, and mental health), and a obtain peer-reviewed articles and abstracts pub-
moral start (ethics, morality, and self-discipline). lished by major journals of medical research.
Libraries and Clearinghouses Professional Societies
Cochrane Library American Academy of Pediatrics (AAP)

http://www.thecochranelibrary.com http://aap.org
Searchable, online database of systematic The professional association of pediatricians.
reviews of the effects of health care interven- Committed to the optimal, physical, mental,
tions related to pregnancy and neonatal out- and social health and well-being of infants, chil-
comes. Also available on DVD-ROM. dren, adolescents, and young adults. Publishes a
major pediatric medical journal, Pediatrics.
Early Childhood
Research & Practice (ECRP) American Academy of
http://www.ecrp.uiuc.edu Pediatrics (AAP) Policies
Web site of a peer-reviewed, bilingual electronic http://aappolicy.aappublications.org
journal sponsored by the ERIC Clearinghouse Web site includes policy statements and guidelines
on Elementary and Early Childhood Education developed by the AAP. Also offers links to print-
(ERIC/EECE) at the University of Illinois at able handouts for parents that provide important
Urbana–Champaign. Covers topics related to health messages based on these statements.
the development, care, and education of children American College of
from birth to approximately age 8. Also includes Obstetricians and Gynecologists (ACOG)
articles and essays that present opinions and http://www.acog.org
reflections, as well as letters to the editor. Professional organization of obstetrician-
Medline Plus Health Information gynecologists, dedicated to the advancement of
http://www.medlineplus.gov women’s health through education, advocacy,
Web site presents health information from NLM practice, and research. Provides online physi-
and contains extensive information for profes- cian directory. Bookstore offers patient infor-
sionals and the public on diseases/conditions and mation pamphlets, professional resources, and
medicines, lists of hospitals, a medical encyclope- multimedia resources.
dia/dictionary, information in Spanish, and links American Medical Association (AMA)
to current clinical trials. http://www.ama-assn.org
Develops and promotes standards in medi-
National Dissemination Center for
cal practice, research, and education; advocates
Children with Disabilities (NICHCY)
for patients and physicians. Publishes a leading
http://www.nichcy.org
medical journal, JAMA: The Journal of the Ameri-
Web site contains information about spe-
can Medical Association.
cific disabilities, early intervention services
for infants and toddlers, special education and Association of University
related services for children in school, resources Centers on Disabilities (AUCD)
and connections in every state, individualized http://www.aucd.org
education programs, parent materials, disabil- Represents the professional interests of the
ity organizations, professional associations, national network of 61 university centers for
education rights and law requirements, and the excellence in developmental disabilities education,
Resources 821
research, and service (UCEs; formerly called uni- ideas and tips for parents to facilitate these
versity affiliated programs, or UAPs) that serve milestones.
people with developmental disabilities.
Child Development Institute
National Association of http://www.childdevelopmentinfo.com
Developmental Disabilities Councils Web site for parents on child development,
http://www.nacdd.org parenting, child psychology, teenagers, health,
Organization of developmental disability coun- safety, and learning disabilities.
cils that exist in each state to provide informa-
East Tennessee Children’s
tion on and advocate for resources and services
Hospital: Developmental Milestones
for people with developmental disabilities and
http://www.etch.com/healthdevms.cfm
their families.
Web site presents a brief overview of typical
Society for Disability Studies and atypical developmental milestones from
http://www.uic.edu/orgs/sds birth to 15 months. Site also provides links
Works to explore issues of disability and chronic to information about feeding and swallowing,
illness from scholarly perspectives. Publishes physical therapy and occupational therapy, and
Disability Studies Quarterly; holds an annual language development.
conference that brings together scholars from
KidsHealth
a broad spectrum of fields as well as artists and
http://kidshealth.org
community-based activists.
Sponsored by the Nemours Foundations Cen-
ter for Children’s Health. Web site offers a
CHILD DEVELOPMENT AND wide variety of information pertaining to child
DIAGNOSIS OF DISABILITIES health issues. Contains helpful explanations
of basic medical terminology and articles and
resources for parents and professionals. Avail-
Birth Defects
able in Spanish.
Genetics Home Reference
National Center for Education
http://ghr.nlm.nih.gov
in Maternal and Child Health
Genetics Home Reference provides consumer-
http://www.ncemch.org
friendly information about the effects of genetic
Disseminates publications and fact sheets to the
variations on human health.
public and professionals in the field and devel-
March of Dimes ops and maintains database of topics, agencies,
http://www.marchofdimes.com and organizations related to maternal and child
Awards grants to institutions and organizations health.
for development of genetic services, perina-
tal care in high-risk pregnancies, prevention Pediatric Development and Behavior
of premature delivery, parent support groups, http://www.dbpeds.org
and other community programs. Campaign for Independent web site created to promote bet-
Healthier Babies distributes information about ter care and outcomes for children and families
birth defects and related newborn health prob- affected by developmental, learning, and behav-
lems. Spanish-language materials available. ioral problems by providing access to clinically
relevant information and educational material
National Society of Genetic Counselors for medical providers, other service delivery
http://www.nsgc.org professionals, and parents.
Includes a searchable database of counselors.
WebMD Health
Child Development http://my.webmd.com
Provides a variety of useful information on
Ages and Stages: Birth to 12 months mainstream health topics. Offers reliable infor-
http://www.extension.iastate.edu/Publications/ mation about identifying symptoms of illness
PM1530A.pdf and reports on highlighted topics.
Web site features a publication from the Iowa
State University Extension program that pres- ZERO TO THREE
ents information about the physical, mental, http://www.zerotothree.org
emotional, and social development of children National, nonprofit organization whose mission
between birth and 12 months of age. Provides is to promote the healthy development of infants
822 Resources
and toddlers by supporting and strengthen- genetics and to connect callers with support
ing families, communities, and those who work groups and informational resources. An annual
on their behalf. Web site includes various poli- conference is held in Washington, D.C.
cies, research reports, and technical assistance
Genetics Society of America
resources for parents and professionals.
http://www.genetics-gsa.org
Environmental Toxicants Professional organization that aims to bring
together genetic investigators and provide a
American Association on Intellectual forum for sharing research findings. Cooperates
and Developmental Disabilities (AAIDD) in the organization of an international congress
Environmental Health Initiative held every 5 years under the auspices of the
http://www.aaidd.org/ehi/index.cfm International Genetics Federation. Publishes
AAIDD’s goals are to raise awareness about the the journal GENETICS and other resources.
complex links between exposure to neurotoxic
chemicals and developmental disabilities, and Online Mendelian
to raise awareness that those living with intel- Inheritance in Man (OMIM)
lectual disabilities and related developmental http://www.ncbi.nlm.nih.gov/omim
disabilities may be at greater risk of secondary Web site database of human genes and genetic
health effects from toxic exposures than indi- disorders with textual information, pictures,
viduals without disabilities. and reference information.
National Library of Neurocognitive Assessment

Medicine, Environmental
American Psychological Association 
Health and Toxicology Webpages
http://www.apa.org/topics/testing/index.aspx 
http://sis.nlm.nih.gov/enviro.html
Web site addresses major considerations and
The NLM has aggregated a large number of
issues in psychological testing.
resources at a single web portal.
National Council on
Pediatric Environmental
Measurement in Education 
Health Specialty Units (PEHSU)
http://www.ncme.org
www.pehsu.net
Organization working to advance the science
There are 10 PEHSUs in the United States.
and practice of measurement in education.
Any health professional, parent, school teacher
or other person can contact their regional The Standards for Educational
PEHSU for information about children’s health and Psychological Testing 
and the environment. http://www.apa.org/science/programs/testing/
standards.aspx 
Genetics A key reference for test developers and pro-
GeneTests fessionals, developed jointly by the American
http://www.ncbi.nlm.nih.gov/sites/GeneTests/ Educational Research Association (AERA), the
Free medical genetics information resource American Psychological Association (APA), and
developed for physicians, other health care the National Council on Measurement in Edu-
providers, researchers, and the public. Provides cation (NCME). 
GeneReviews, peer-reviewed articles describing
Prematurity
the application of genetic testing to the diagnosis,
management, and genetic counseling of patients; BLISS
international directories for genetic testing labo- http://www.bliss.org.uk
ratories and genetic and prenatal diagnosis clin- Site created by parents for parents that provides
ics; and various educational materials. information about causes of prematurity and
levels of neonatal care.
Genetic Alliance
http://www.geneticalliance.org Emory Pediatrics
International organization of families, health Developmental Progress Clinic
professionals, and genetic organizations dedi- http://med.emory.edu/PEDIATRICS/NEON
cated to enhancing the lives of individuals living ATOLOGY/DPC/index.htm
with genetic conditions through the provision Information regarding medical complications
of education, policy, and information services. with implications for development focusing
Staff is available to address questions about on prematurity and other neonatal medical
Resources 823
complications associated with developmental needed by premature babies, growth and devel-
problems, developmental care in the neonatal opment, feeding issues, sleep patterns, vision
intensive care unit, neurodevelopmental impli- and hearing, immunizations, and travel con-
cations of neonatal trauma, developmental cerns such as car seat placement.
milestones specifically for children born pre-
Premature Babies
maturely, information regarding issues beyond
Guide at Keep Kids Healthy
infancy, Georgia state resources, frequently
http://www.keepkidshealthy.com/newborn/
asked questions and answers, and web links.
premature_babies.html
Family Practice Notebook General resource for parents. It defines the risk
http://www.fpnotebook.com/NICCH16.htm factors for having a premature baby; describes
Information on the outcomes of infants born neonates at various gestational ages; defines
prematurely. Also gives neurological outcomes common medical problems that premature
for 24–26 weeks’ gestation and links to the ref- babies often face; and answers common parent
erences that support these outcomes. questions related to feeding, going home, and
possible long-term problems.
March of Dimes PeriStats Database
http://www.marchofdimes.com/peristats/ Premature Baby–Premature Child
PeriStats provides free access to maternal and http://prematurity.org
infant health-related data at the United States, Web site developed by parents of children who
state, county, and city level. were born prematurely and who went on to
have developmental issues.
Mayo Clinic: Premature Birth
http://www.mayoclinic.com/health/premature- Premature-infant.com
birth/DS00137 http://premature-infant.com
Provides information related to prematurity, Web site has touching stories and supportive
such as causes of premature delivery, signs and information for parents, along with insights
symptoms during pregnancy, and when to seek for medical personnel. Contains resource links
medical help. Also includes information on the to related problems/concerns. Also provides
difficulties a child born prematurely may have, information regarding gastroesophageal reflux
the course of care he or she will receive in the disease, infant massage, kangaroo care, posi-
neonatal intensive care unit, and what to expect tioning, pain, respiratory syncytial virus (RSV),
upon discharge. and feeding issues.
Medline Plus: Premature Babies The Vermont Oxford
http://www.nlm.nih.gov/medlineplus/prema- http://www.vtoxford.org
turebabies.html Web site provides information for the institu-
Resource for health care professionals. Sections tions that participate in its database. Database
include drug information, an encyclopedia, a tracks the progress of high-risk infants within
dictionary, news pages, and other resources. certain criteria and provides good statistical
Provides links to information (e.g., car-seat analysis and research options to those who par-
safety for premature infants) that can be printed ticipate.
out and shared with parents.
Parents of Premature Babies DEVELOPMENTAL DISABILITIES
http://www.preemie-l.org AND DISABLING ILLNESSES
Supports families and caregivers of premature
infants. Offers a discussion forum and an e-mail
list, as well as a unique mentoring program Acquired Immunodeficiency
for new parents of premature infants who are Syndrome (AIDS)
matched with parents of an older premature
Centers for Disease
infant.
Control and Prevention (CDC)
Premature Babies: Caring for Your Baby National Sexually Transmitted Diseases (STD)
http://familydoctor.org/handouts/283.html and AIDS Hotline (English: 800-342-2437;
Web site maintained by the American Academy Spanish: 800-344-7432; TTY: 800-243-7889;
of Family Physicians as an all-encompassing http://www.cdc.gov). Weekday hotline that pro-
resource to address typical parent concerns. vides confidential information on transmission
Includes discussions about the special care and prevention of human immunodeficiency
824 Resources
virus (HIV)/AIDS and other STDs, testing, local Autism Speaks

referrals, and educational materials to the public. http://www.autismspeaks.org
Dedicated to helping families find answers,
Office of National AIDS Policy
through funding research and education efforts
http://www.whitehouse.gov/onap/aids.html
and, most significantly, by spearheading the
Provides broad direction for federal AIDS
development of a national registry of individu-
policy and fosters interdepartmental communi-
als with autism.
cation on HIV and AIDS. Works closely with
the AIDS community in the United States and International Rett Syndrome Association
around the world. http://www.rettsyndrome.org
Provides information, referral, and support to
Attention-Deficit/ families and acts as a liaison with professionals.
Hyperactivity Disorder (ADHD)
National Center on Birth
A.D.D. WareHouse Defects and Developmental Disabilities
http://www.addwarehouse.com (NCBDDD): Autism Information Center
Mail-order resource for ADHD-related books, http://www.cdc.gov/ncbddd/autism/index.htm
games, videotapes, and other materials for cli- Web site has unique feature: link to the Autism
nicians, parents, teachers, adults, and students. Spectrum Disorders Kids’ Quest, a series of
Attention Deficit Disorder Association informative sites provided by the NCBDDD
http://www.add.org for the purpose of educating children about
National organization that provides educa- developmental disabilities. Site also provides
tion, research, and public advocacy. Especially information about current research on autism
focused on the needs of adults and young adults spectrum disorders (ASDs) by the Centers for
with ADHD. Disease Control and Prevention (CDC) and
other federal agencies. Serves as a link for
CHADD (Children and Adults with information regarding various state funding
Attention-Deficit/Hyperactivity Disorder) programs for ASDs.
http://www.chadd.org
Support group for parents of children with Blindness
attention disorders. Provides continuing educa-
American Association for Pediatric
tion for both parents and professionals, serves
Ophthalmology and Strabismus (AAPOS)
as a community resource for information, and
http://aapos.org
advocates for appropriate educational programs.
Provides resources for patients and families
Autism Spectrum Disorders (ASDs) regarding frequently asked questions of ocular
conditions. Resource for locating a pediatric
American Academy of Pediatrics ophthalmologist in your area.
http://www.aap.org/healthtopics/autism.cfm
Web site provides professional and family/ American Foundation for the Blind (AFB)
community resources and information about http://www.afb.org
autism spectrum disorders. Includes links for Works in cooperation with other agencies,
audiotaped interviews of experts for families organizations, and schools to offer services to
and professionals about pertinent topics, to the individuals who are blind or who have visual
AAP Toolkit: AUTISM: Caring for Children with impairments; provides consultation, public edu-
Autism Spectrum Disorders Resource Toolkit for cation, referrals, and information; produces and
Clinicians, as well as policy statements pertinent distributes talking books; publishes and sells
to ASDs. materials for professionals in the blindness field.
Autism Society of America American Printing
http://www.autism-society.org House for the Blind (APH)
Provides information about autism, including http://www.aph.org
options, approaches, methods, and systems avail- Nonprofit publishing house for people with
able to parents and family members of children visual impairments. Has books in braille and
with autism and the professionals who work with large type and on audiotape and computer disk,
them. Advocates for the rights and needs of indi- as well as a range of aids, tools, and supplies for
viduals with autism and their families. education and daily living.
Resources 825
Learning Ally (Previously United States Association

Recording for the Blind & Dyslexic) of Blind Athletes (USABA)
http://www.learningally.org http://www.usaba.org
Produces and distributes textbooks on audio- Aims to ensure that legally blind individuals have
tape, computer disk, and CD-ROM; individu- the same opportunities as their sighted peers
als or institutions who have memberships may in recreation and sports programs at all levels,
borrow these materials. Also provides reference from developmental to elite. Works to change
librarian services for individual members. negative stereotypes related to the abilities of
individuals who are blind and other people with
Lighthouse
disabilities. Publishes a newsletter. Web site has
International (previously National
links to related sites and event calendars with
Association for Visually Handicapped)
sport descriptions.
www.lighthouse.org
Provides informational literature, guidance, Cerebral Palsy
and counseling in the use of visual aids, emo-
tional support, and referral services for parents American Academy for Cerebral Palsy
of partially sighted children and for people who and Developmental Medicine (AACPDM)
work with these children. Publishes free large- http://www.aacpdm.org/
print newsletter. Multidisciplinary scientific society that fosters
professional education, research, and interest in
National Braille Association the problems associated with cerebral palsy.
http://www.nationalbraille.org
Produces and distributes braille reading mate- Cerebral Palsy, Erbs Palsy,
rials for people with visual impairment. Col- All Types of Cerebral Palsy
lection consists of college-level textbooks, http://www.cerebralpalsy.org
materials of general interest, standard technical Web site provides information about causes,
tables, and music. risk factors, and types of cerebral palsy. Includes
links and resources about types of help available
National Federation of the Blind and how to find help. Also discusses treatment
http://www.nfb.org interventions and special education issues.
Strives for complete inclusion of people who are
blind into society on the basis of equality. Offers Cerebral Palsy: Hope Through Research
advocacy services for these individuals in such http://www.ninds.nih.gov/disorders/cerebral_
areas as discrimination in housing and insur- palsy/detail_cerebral_palsy.htm
ance. Operates a job referral and listing system Web site discusses diagnostic questions related
for individuals to find competitive employ- to cerebral palsy. Includes questions related to
ment. Runs an aids and appliances department, causes and treatments available. Also provides
a scholarship program for college students, and information about current research projects
a loan program for people who are going into being conducted concerning cerebral palsy.
business for themselves. Publishes monthly and Available in Spanish.
quarterly publications.
Cerebral Palsy—Neurology Channel
National Library Service for the http://www.neurologychannel.com/cerebral
Blind and Physically Handicapped palsy
http://www.loc.gov/nls Web site includes information about cerebral
Administers a national library service through palsy, including types, causes, treatments, risk
a network of participating public libraries to factors, complications, and prognosis. Also pro-
provide braille and recorded books and maga- vides information about orthopedic and neuro-
zines on free loan to anyone who cannot read logical surgeries for cerebral palsy.
standard print because of visual or physical dis-
Children’s Disabilities and Special Needs
abilities.
http://www.comeunity.com/disability/cere
Prevent Blindness America bral_palsy
http://www.preventblindness.org Web site contains general articles related
Committed to the reduction of preventable to cerebral palsy and articles about research
blindness. Provides information to people who concerning cerebral palsy in children born
are blind, professionals working with these prematurely. Provides links to books and
individuals, and the public. resources.
826 Resources
CP Resource Center (CASANA). Provides comprehensive information

http://www.cpparent.org and resources, including a free online newsletter,
Web site provides general information about related to diagnosis and treatment, educational
cerebral palsy, its causes, and some treatments. programs, and the medical and insurance aspects
Contains a dictionary to help parents under- of childhood apraxia. Spanish-language materials
stand medical terms they may hear. Also lists are available.
books for further reading.
Augmentative and Alternative
United Cerebral Palsy Communication–Rehabilitative
http://www.ucp.org Engineering Research Center
Provides direct services to children and adults (AAC-RERC)
with cerebral palsy that include medical diagno- http://aac-rerc.psu.edu/
sis, evaluation and treatment, special education, Collaborative research programs that develop
career development, counseling, social and rec- and disseminate information and activities that
reational programs, and adapted housing. seek to advance and promote augmentative and
alternative communication (AAC) technologies
Deafness and Speech Disorders for individuals with disabilities who use them,
ADARA (formerly as well as for professionals who manufacture,
Professional Workers with the recommend, and distribute them.
Adult Deaf [PRWAD] and the American Boys Town National Research Hospital
Deafness and Rehabilitation Association) http://www.boystownhospital.org/home.asp;
http://www.adara.org http://www.babyhearing.org/
Serves professionals who work with deaf indi- Two web sites that provide a variety of
viduals and people interested in learning about resources relating to children with hearing,
deafness. Publishes a journal and newsletter by language, and learning disabilities and the
subscription; offers memberships. research currently underway at Boys Town
Alexander Graham Bell National Research Hospital. The site titled
Association for the Deaf “Baby Hearing” is offered in a Spanish-lan-
http://nc.agbell.org guage version.
A free membership organization that pro- Centers for Disease
vides general information and information on Control and Prevention
resources related to hearing loss. They publish http://www.cdc.gov/hearingloss
materials and books on these subjects and pro- Web site provides comprehensive informa-
vide information about scholarships and finan- tion about hearing loss. It is sponsored by the
cial aid for individuals who are deaf and hard of National Center on Birth Defects and Devel-
hearing. opmental Disabilities of the U.S. federal gov-
American Society for Deaf Children ernment’s Centers for Disease Control and
http://www.deafchildren.org Prevention. This web site and its Hearing Loss
Provides information and support to parents Team provides free brochures, fact sheets, and
and families with children who are deaf or hard other educational materials.
of hearing.
Collaborative Early Intervention
American Speech-Language- National Training e-Resource
Hearing Association (ASHA) http://center.uncg.edu
http://www.asha.org Target audience for web site is profession-
Professional and scientific organization and cer- als who serve families with infants and tod-
tifying body for professionals providing speech- dlers who are deaf or hard of hearing. Provides
language and hearing services. Conducts research graduate-level, web-based training for service
in communication disorders, publishes several providers. Site also offers an extensive list of
journals, and provides consumer information resources for professionals and families.
and professional referral.
Deafness Research Foundation
Apraxia—KIDS http://www.drf.org
http://www.apraxia-kids.org Solicits funds for the support of research into
Web site maintained by Childhood Apraxia the causes, treatment, and prevention of deaf-
of Speech Association of North America ness and other hearing disorders.
Resources 827
Described and Captioned Media Program issues related to education of children with
http://www.dcmp.org/ deafness.
Government-sponsored distribution of open-
National Center for Stuttering
captioned materials to eligible institutions,
http://www.stuttering.com/homepag.htm
individuals, and families. Program promotes
Provides free information for parents of young
and provides equal access to communication
children just starting to show symptoms of
and learning for students who are blind, visu-
stuttering; runs training programs in current
ally impaired, deaf, hard of hearing, or deaf-
therapeutic approaches for speech-language
blind.
professionals; provides treatment for people
Hands and Voices older than 7 years of age who stutter.
http://www.handsandvoices.org National Consortium on Deaf-Blindness
A nationwide nonprofit organization that is a http://www.nationaldb.org/
parent-driven, parent/professional collabora- A national technical assistance and dissemi-
tive group dedicated to supporting families and nation center for children and youth who are
their children who are deaf or hard of hearing, deaf-blind. Web site provides information
as well as the professionals who serve them. about deaf-blindness, disability, education and
Web site offers a wealth of information and technical assistance, technology, and medical
resources related to hearing loss, technology, and health resources.
communication and educational methodolo-
gies, and advocacy. National Institute on
Deafness and Other Communication
Hearing Loss Disorders/National Institutes of Health
Association of America (HLAA) http://www.nidcd.nih.gov/
http://www.shhh.org A web site, sponsored by the U.S. federal gov-
Educational organization that provides assis- ernment, that provides health information
tance to individuals who are deaf or hard of about all hearing-related topics including ear
hearing to participate fully in society. Publishes infections, deafness and hearing aids, as well
a journal, newsletter, and other materials; pro- as balance, smell, taste, voice, and speech and
vides advocacy and outreach programs and an language disorders. The institute offers free
extensive network of local chapters and self- publications, information about clinical trial
help groups; and hosts an annual convention. participation, and links to organizations related
Helen Keller National Center to deafness and communication disorders.
for Deaf-Blind Youths and Adults Speech and Language
http://www.hknc.org/ Development in Young Children
The center offers a residential training facility http://members.tripod.com/Caroline_Bowen/
for deaf-blind individuals and has representa- devel1.htm
tives in 10 regional offices across the nation Web site presents information about the acqui-
who can assist with information, training, and sition of language in early childhood. Provides
support. Also maintains a national registry of information about how language is learned and
people who are deaf-blind. the role of the parent in facilitating these skills.
International Hearing Society Language and communication milestones are
http://ihsinfo.org/IhsV2/Home/Index.cfm presented along with a section on when to seek
Provides information on how to proceed when professional help.
hearing loss is suspected. Also offers free con- Speech Therapy Activities
sumer kit, facts about hearing aids, and a variety http://www.speechtx.com
of literature on hearing-related subjects. Web site provides free, printable speech-
Laurent Clerc National language activities for speech-language pathol-
Deaf Education Center ogists and parents.
http://clerccenter.gallaudet.edu/infotogo Down Syndrome
Web site provides a comprehensive resource
related to the educational, linguistic, social, The Association for
and emotional development of deaf or hard of Children with Down Syndrome
hearing children. Information is included about http://www.acds.org
assistive devices and hearing aids, learning sign Offers information and referral services, includ-
language or speech reading, and classroom ing a free list of publications.
828 Resources
Down Syndrome: Health Issues National Organization on

http://www.ds-health.com Fetal Alcohol Syndrome (NOFAS)
For parents and professionals. Web site includes http://www.nofas.org
articles concerning specific health issues related Nonprofit organization founded in 1990; dedi-
to Down syndrome, such as gastroesophageal cated to eliminating birth defects caused by
reflux, blood disorders, and thyroid function. alcohol consumption during pregnancy and to
Information also provided about health guide- improving the quality of life for those individu-
lines and controversies in the care of children als and families affected.
and adults with Down syndrome.
PREVLINE: Prevention
National Down Online (National Clearinghouse
Syndrome Congress (NDSC) for Alcohol and Drug Information)
http://ndsccenter.org http://ncadi.samhsa.gov
Provides information, advocacy, and support. The world’s largest resource for current infor-
Has annual convention for families in the summation and materials concerning substance
mer and publishes a newsletter, Down Syndrome abuse. Distributes brochures, offers resources
News. for parents and teachers on prevention, and
has English- and Spanish-speaking information
National Down Syndrome Society (NDSS) service staff available to answer questions.
http://www.ndss.org
National advocate for the values, acceptance, Genetic Syndromes and
and inclusion of people with Down syndrome. Inborn Errors of Metabolism
Works with affiliate groups to advance research, There are many support organizations and net-
increase public awareness, and improve educa- works for children with various syndromes and
tion opportunities. inborn errors of metabolism and their families.
Resources for more common syndromes (e.g.,
Epilepsy Down syndrome) appear in their own sections
American Epilepsy Society in this appendix, but a representative sample of
http://www.aesnet.org others is listed here. For a more complete list-
Promotes research and education for profes- ing, contact the National Organization for Rare
sionals dedicated to the prevention, treatment, Disorders (NORD [see later listing]).
and cure of epilepsy. 5p Minus Society
Epilepsy Foundation http://www.fivepminus.org
http://www.efa.org Family support and information group for par-
Provides programs of information and educa- ents, grandparents, and guardians of individu-
tion, advocacy, support of research, and the als with 5p- (cri-du-chat) syndrome. Publishes
delivery of needed services to people with epi- a newsletter and sponsors an annual meeting.
lepsy and their families. Angelman Syndrome Foundation, Inc.
http://www.angelman.org
International League Against Epilepsy
Organization that sponsors research, and pro-
http://www.ilae-epilepsy.org
vides information to families and providers.
Global nonprofit organization that disseminates
Sponsors a biennial conference and has a men-
knowledge about epilepsy and fosters research,
torship program for newly diagnosed families.
education, training, and improved services and
care. Has official working relationship with the The American Society of Human Genetics
World Health Organization. http://www.ashg.org
Professional organization for human genetics
Fetal Alcohol Spectrum Disorder specialists. Publishes The American Journal of
Human Genetics and other resources.
Family Empowerment Network (FEN)
http://www.fammed.wisc.edu/fen Arthrogryposis Multiplex
National nonprofit organization that exists to Congenita Support, Inc.
empower families affected by fetal alcohol syn- http://www.amcsupport.org
drome and other drug-related birth defects, Group that aims to provide more informa-
through education and support; also publishes tion and support for families of children with
a newsletter, The FEN Pen. arthrogryposis multiplex congenital. Provides
Resources 829
resources for physical therapists and other pro- Little People of America, Inc.
viders to families. http://www.lpaonline.org
Nationwide organization dedicated to helping
Association for Glycogen Storage Disease
people of short stature. Provides fellowship,
http://www.agsdus.org
moral support, and information to people who
Association that aims to create public aware-
are shorter than typical, or individuals with
ness, provide family support, and stimulate
dwarfism. The toll-free helpline provides infor-
research. A quarterly newsletter, The Ray, is
mation on organizations, products and services,
published, and a conference is held annually.
and doctors in the caller’s area.
Avenues
The National Fragile X Foundation
http://www.avenuesforamc.com
http://www.FragileX.org
Publishes a semiannual newsletter that provides
Provides information, medical and genetic
lists of parents, physicians, and experienced
referrals, sponsors research grants, and pro-
medical centers concerned with people with
vides educational resources.
arthrogryposis multiplex congenita.
National Gaucher Foundation
Children’s Craniofacial Association http://www.gaucherdisease.org
http://www.ccakids.com Publishes quarterly newsletter, operates sup-
Supports families and children with craniofacial port groups and chapters, provides referrals
patients, encourages public awareness and edu- to organizations for appropriate services, and
cation, and publishes a quarterly newsletter, and funds research on Gaucher disease.
educational brooklets.
National MPS Society
Children’s Tumor Foundation: Ending http://www.mpssociety.org
Neurofibromatosis through Research Raises money to provide student fellowships and
http://www.ctf.org fund research for mucopolysacchoride disorder,
Foundation dedicated to improving the health collaborates with other lysosomal storage dis-
and well-being of individuals and families eases, patient support groups, supports families
affected by neurofibromatosis by supporting by providing resource guides, publish a newslet-
research, providing information for families, ter, Courage, and hold a yearly conference.
assisting in developmental clinical centers and
expanding public awareness. The National Organization
for Rare Disorders (NORD)
Cornelia de Lange Syndrome Foundation http://www.rarediseases.org
http://www.cdlsusa.org A nonprofit patient advocacy organization
Supports parents and children affected by de dedicated to orphan diseases (disorders occur-
Lange syndrome, encourages research, and dis- ring in fewer than 200,000 individuals in the
seminates information to increase public aware- United States). NORD provides information
ness through a newsletter and informational about diseases, referrals to patient organiza-
pamphlet. tions, research grants and fellowships, advocacy
Ehlers Danlos National Foundation for the rare-disease community, and medication
http://www.ednf.org assistance programs.
Funds research and provides information and National PKU Alliance
support to families and medical providers. http://www.npkua.org
Sponsors annual conference. Raises money to fund research, supports local
phenylketonuria (PKU) organizations, educates
FRAXA Research Foundation
communities about issues faced by individuals
http://www.fraxa.org
and families affected with PKU.
Supports scientific research aimed at finding a
treatment and a cure for fragile X syndrome. National Tay-Sachs and
Funds grants and fellowships at universities Allied Diseases Association
worldwide. Runs an e-mail list on which indi- http://www.NTSAD.org
viduals may post strategies and questions. Pub- Promotes genetic screening programs nation-
lishes FRAXA Newsletter, Medication Guide for ally, has updated listing of Tay-Sachs disease–
Fragile X Syndrome (by Michael Tranfaglia) and prevention centers in a number of countries,
Fragile X A to Z: A Guide for Families (edited by provides educational literature to general public
Wendy Dillworth; downloadable from the web and professionals, and coordinates peer group
site free of charge). support for parents.
830 Resources
National Urea Cycle Disorders Foundation Tuberous Sclerosis Alliance

http://www.nucdf.org http://www.tsalliance.org
Provides information and support for fami- Offers public information about manifestations
lies. Supports and stimulates medical research of the disease to newly diagnosed individuals,
and increased awareness by the public and the their families, and interested professionals.
legislators of issues related to urea cycle dis- Referrals are made to support groups located in
orders. most states. Funds research through member-
ship fees and donations.
Organic Acidemia Association
http://www.oaanews.org United Leukodystrophy Foundation
A volunteer nonprofit organization whose mis- http://www.ulf.org
sion is to empower families and health care pro- Maintains 24-hour hotline to provide family
fessionals with knowledge in organic acidemia support, provides educational resources, sup-
metabolic disorders. ports research, puts out a quarterly newsletter,
and runs an annual conference.
Osteogenesis Imperfecta Foundation
http://www.oif.org The United Mitochondrial
Supports research on osteogenesis imperfecta Disease Foundation
and provides information to those with this dis- http://www.umdf.org
order, to their families, and to other interested Promotes research and education for the diagno-
people. sis, treatment, and cure of mitochondrial disor-
ders and provides support to affected individuals
Prader-Willi Syndrome Association and families.
http://www.pwsausa.org
National organization that provides infor- Intellectual Disability
mation education and support services on
American Association on Intellectual
Prader-Willi syndrome to parents, profes-
and Developmental Disabilities (AAIDD)
sionals, and other interested people. Provides
http://www.aaidd.org
research funding, bimonthly newsletter, and
Professional organization that promotes cooper-
an annual national conference for families
ation among those involved in services, training,
and professionals.
and research in intellectual disabilities. Encour-
Rare Diseases Clinical Research Network ages research, dissemination of information,
http://rarediseasesnetwork.epi.usf.edu development of appropriate community-based
National network made up of 19 distinctive services, and the promotion of preventive mea-
consortia that are working together to improve sures designed to further reduce the incidence of
availability of rare disease information, treat- intellectual disability.
ment, clinical studies, and general awareness The Arc of the United States
for both patients and the medical community. http://thearc.org
The RDCRN also aims to provide up-to-date National advocacy organization working on
information for patients and to assist in con- behalf of individuals with intellectual disabili-
necting patients with advocacy groups, expert ties and their families; has more than 1,000 state
doctors, and clinical research opportunities. and local chapters.
Support Organization for Trisomy President’s Committee for People
18, 13, and Related Disorders (SOFT) with Intellectual Disabilities (PCPID)
http://www.trisomy.org http://www.acf.hhs.gov/programs/pcpid/index.
Chapters in most states provide support and html
family packages with a newsletter and appro- Advises the President and the Secretary of
priate literature underscoring the common Health and Human Services on all matters
problems for children with trisomy 13 or tri- pertaining to intellectual disabilities; publishes
somy 18 during pregnancy, life and after pass- annual reports and information on the rights of
ing. Holds a yearly conference for families and people with intellectual disabilities.
professionals.
Learning Disorders
Tourette Syndrome Association
http://www.tsa-usa.org Dyslexia Research Institute
Offers information, referral, advocacy, educa- http://www.dyslexia-add.org
tion, research, and self-help groups for those Provides training, workshops, and seminars for
affected by Tourette syndrome. professionals.
Resources 831
International Dyslexia Association (IDA) Neuromuscular and

http://www.interdys.org Musculoskeletal Disorders
Devoted to the study and treatment of dyslexia;
Cure CMD
provides information and referrals; sponsors
http://curecmd.org/
conferences, seminars, and support groups; and
Support group for families affected by congeni-
has two regular publications and more than
tal muscular dystrophy, also provides research
40 branches in the United States and abroad.
funding.
LD Online
Families of SMA
http://www.ldonline.org
http://www.fsma.org/
Resources on learning disabilities for parents,
Support group for families affected by spinal
students, teachers, and other professionals.
muscular atrophy.
Interactive web site provides basic information
on learning disabilities and the latest research Guillain-Barré Syndrome
and news; also offers e-mail consultation by Foundation International
experts on learning disabilities, resource lists, http://www.gbsfi.com
personal stories, bulletin boards, and materials/ Provides emotional support to individuals with
resources for purchase. Guillain-Barré syndrome and their families;
fosters research; educates the public about the
Learning Disabilities
disorder; develops nationwide support groups;
Association of America (LDA)
and directs people with this syndrome to
http://www.ldanatl.org
resources, meetings, newsletters, and symposia.
Encourages research and the development of
early detection programs, disseminates infor- Harvard Neuromuscular Disease Project
mation, serves as an advocate, and works to http://www.childrenshospital.org/cfapps/
improve education for individuals with learning research/data_admin/Site2549/mainpageS25
disabilities. 49P0.html
Conducts research in the genetics of neuromus-
National Center for
cular diseases, especially muscular dystrophy.
Learning Disabilities (NCLD)
http://www.ld.org Manton Center for
Promotes public awareness of learning disabil- Orphan Disease Research
ities and provides computerized information http://www.childrenshospital.org/cfapps/
and referral services to consumers and profes- research/data_admin/Site2673/mainpag-
sionals on learning disabilities. Publishes Their eS2673P0.html
World, an annual magazine for parents and Research center devoted to the study of rare
professionals. diseases, including inherited neuromuscular
conditions.
Schwablearning.org
http://www.schwablearning.org Muscular Dystrophy Association
An online parent’s guide to helping children http://www.mdausa.org
with learning disabilities and attention-deficit/ Health care agency that fosters research and
hyperactivity disorder (ADHD), including provides direct services to individuals with mus-
information on identifying disabilities and on cular dystrophy; is concerned with conquering
managing home, school, and learning. Site also muscular dystrophy and other neuromuscular
has resources and publications for families. diseases.
Neural Tube Defects Myasthenia Gravis Foundation of America

http://www.myasthenia.org/
Spina Bifida Association of America Support group for myasthenia gravis.
http://www.sbaa.org
Provides information and referral for new par- National Scoliosis Foundation
ents and literature on spina bifida; supports a http://www.scoliosis.org
public awareness program; advocates for indi- Nonprofit organization with state chapters;
viduals with spina bifida and their families; sup- dedicated to informing the public about scoliosis
ports research; and conducts conferences for and promoting early detection and treatment of
parents and professionals. scoliosis. Publishes Spinal Connection Newsletter.
832 Resources
Scoliosis Research Society Sells aids that make daily tasks easier for those
http://www.srs.org with physical disabilities; also carries clocks,
Sponsors and promotes research on the etiology calculators, magnifying lamps, and easy-to-see
and treatment of scoliosis and spinal disorders. low-vision and talking watches for individuals
with visual impairments.
Spinal Muscular Atrophy
Foundation (SMA Foundation) Michigan’s Assistive Technology Resource
http://www.smafoundation.org/ http://www.copower.org/At/atlinks.htm
Provides support for research into potential Provides free information on low-tech devices
therapies for SMA. and equipment available for individuals with
disabilities.
Traumatic Brain Injury (TBI)
National Center for
Brain Injury Association of America Technology Innovation (NCTI)
http://www.biausa.org http://www.nationaltechcenter.org
Provides information to educate the public, poli- NCTI assists researchers, developers, and
ticians, businesses, and educators about brain entrepreneurs in creating innovative learning
injury, including effects, causes, and prevention. tools for all students, with special focus on stu-
Traumatic Brain Injury Resource Guide dents with disabilities.
http://www.neuroskills.com Rehabilitation Engineering
Web site includes educational information, and Assistive Technology
books, local support groups, and research. Society of North America (RESNA)
http://www.resna.org
INTERVENTIONS, Multidisciplinary organization of professionals
interested in the identification, development,
SERVICES, AND OUTCOMES and delivery of technology to people with dis-
abilities. Offers numerous publications.
Assistive Technology
Behavior and Mental Health
ABLEDATA
http://www.abledata.com American Academy of Child
National database of information on assistive and Adolescent Psychiatry (AACAP)
technology and rehabilitation equipment. http://www.aacap.org
National nonprofit organization comprised
Alliance for Technology Access
of child and adolescent psychiatrists. Pro-
http://www.ataccess.org
vides information for professionals and fami-
A resource and demonstration center open
lies to aid in the understanding and treatment
to people with disabilities, their families, and
of childhood and adolescent developmental,
professionals and others interested in adaptive
behavioral, and mental health disorders. Parent
technology.
and caregiver fact sheets and information on
Assistive Technology Outcomes research, practice, and membership are avail-
Measurement System (ATOMS) able on the web site.
http://www.atoms.uwm.edu
American Psychiatric Association (APA)
A center which has done research and devel-
http://www.psych.org
oped publications on outcomes of the use of
International organization for physicians, dedi-
assistive technology.
cated to the diagnosis and treatment of mental
Center for Applied Special Technology health and substance-use disorders.
(CAST)
American Psychological Association (APA)
http://www.cast.org
http://www.apa.org
CAST is a nonprofit research and develop-
National scientific and professional organiza-
ment organization that works to expand learn-
tion that develops and promotes standards in
ing opportunities for all individuals, especially
psychological practice, research, and education.
those with disabilities, through Universal
Dedicated to the dissemination of psychologi-
Design for Learning.
cal knowledge to professionals, students, and
Independent Living Aids the general public through meetings, reports,
http://www.independentliving.com and publications.
Resources 833
Association for Behavior Analysis Early Intervention

International (ABA International)
http://www.abainternational.org Child and Family
International organization that promotes the Studies Research Programs
experimental, theoretical, and applied analysis http://jeffline.tju.edu/cfsrp/
of behavior. Disseminates professional and pub- Conducts research and offers resources and
lic information. Also publishes two scholarly training for professionals working with infants,
journals, The Behavior Analyst and The Analysis toddlers, and young children with disabilities
of Verbal Behavior. and their families.
Behaviour Change Consultancy Child Development Web

http://www.behaviourchange.com http://www.childdevelopmentweb.com/Inform
Provides advice, support, project management, ation/EIprograms.asp
policy development, and training to schools, Web site offers information on early interven-
local educational authorities, and parents on tion for parents and families of children who
the subjects of disaffection. Also gives advice on might be eligible for services. Early Interven-
social, emotional, and behavioral difficulties, as tion Programs section is part of the Informa-
well as behavior management. tion Link on The Child Development web’s
home page. Site contains information on
Bright Futures at Georgetown University obtaining services in the United States, an
http://www.brightfutures.org/mentalhealth explanation of early intervention programs
Web site explains the Bright Futures materials and processes, and a breakdown of the services
that help providers operationalize the guidelines that are available through early intervention.
for mental health promotion in children. Site Provides contact information for early inter-
also contains materials to download, including a vention in each state.
mental health fact sheet, a listing of supporting
organizations, and training tools. Contemporary Practices
in Early Intervention
Head Start/Administration
http://www.teachingei.org
on Children and Families
A distance-learning program to train early inter-
http://www.headstartinfo.org
ventionists to provide evidence-based, cultur-
Web site contains a wealth of information on
ally competent, family-centered early childhood
the Head Start and Early Head Start programs.
practices to infants, toddlers, and young children
A special feature is The Mental Health Tool-
with disabilities and their families.
kit, an annotated bibliography of a variety of
articles, books, and federal programs, services, Early Childhood Outcomes Center
and publications. http://www.fpg.unc.edu/~eco
Journal of Applied Behavior Analysis Offers information and resources for state and
http://seab.envmed.rochester.edu/jaba local early childhood administrators, technical
Psychology journal that publishes research assistance providers, teachers, other direct ser-
about applications of the experimental analysis vice providers, and families.
of behavior to social problems. Published by
The Society for the Experimental Analysis of Kid Source
Behavior. http://www.kidsource.com
Web site defines early intervention and pro-
Research and Training vides support for intervening as early as a dis-
Center (RTC) on Family ability or developmental difficulty has been
Support and Children’s Mental Health identified. Site also contains a basic, although
http://www.rtc.pdx.edu limited, reference list.
This federally funded RTC is dedicated to
promoting effective community-based, cultur- The National Early Childhood
ally competent, family-centered services for Technical Assistance Center (NECTAC)
families and their children who are or may be http://www.nectac.org/
affected by mental health, emotional, or behav- Offers tools and information on a vast range of
ioral disorders. topics for early childhood professionals.
834 Resources
National Scientific Council on the disabilities, especially those from underrepre-

Developing Child at Harvard University sented populations. Web site provides informa-
http://www.developingchild.net tion and links from a variety of federally funded
Presents scientific research on early childhood projects.
and early brain development to guide public
policy. National Association of Private
Special Education Centers (NAPSEC)
Education (formerly National Association of
Private Schools for Exceptional Children)
American Educational http://www.napsec.org
Research Association (AERA) A nonprofit association that represents more
http://www.aera.net than 200 schools nationally and more than 600
International professional organization with at the state level through its Council of Affili-
the goal of advancing educational research and ated State Associations. Provides special edu-
its practical education. Members are educa- cation and therapeutic services for children in
tors, counselors, evaluators, graduate students, public or private educational placements. Also
behavioral scientists, and directors or adminis- provides a free referral service to parents and
trators of research, testing, or evaluation. professionals seeking appropriate placement for
children with disabilities and publishes a direc-
Association on Higher
tory of member schools.
Education and Disability (AHEAD)
http://www.ahead.org National Dissemination Center
Professional organization committed to full for Children with Disabilities
participation in higher education for people http://nichcy.org/laws/idea/legacy
with disabilities. This web site presents a training curriculum on
IDEA 2004, the federal law governing special
Association for Supervision and
education and early intervention for children
Curriculum Development (ASCD)
with disabilities.
http://www.ascd.org
Professional membership organization for edu- National Information Center
cators with interest in instruction, curriculum, for Educational Media (NICEM)
and supervision. Publishes the journal Educa- http://www.nicem.com
tional Leadership. Provides database of educational audiovisual
materials, including videotapes, motion pic-
Building the Legacy: IDEA 2004—Part C
tures, filmstrips, audiotapes, and slides.
http://idea.ed.gov and http://idea.ed.gov/explore/
view/p/,root,statute,I,C Tots ‘n Tech Research Institute
Comprehensive information about IDEA 2004 http://tnt.asu.edu/
Part C, which funds and regulates early inter- Provides information on assistive technology
vention services for infants and toddlers with and other adaptation options for infants and
disabilities and their families. toddlers.
Council for Exceptional Children (CEC) What Works Clearinghouse (WWC)
http://www.cec.sped.org http://ies.ed.gov/ncee/wwc
Provides information to teachers, administrators, The WWC was established in 2002 by the
and others concerned with the education of gifted Institute of Education Sciences at the U.S.
children and children with disabilities. Maintains Department of Education to provide educators,
a library and database (ERIC Clearinghouse on policymakers, researchers, and the public with a
Disabilities and Gifted Education; http://www. central and trusted source of scientific evidence
ericec.org) on research in special and gifted edu- about “what works” in education.
cation; provides information and assistance on
legislation. Publishes the journals Exceptional Chil- Family and Sibling Supports
dren and Teaching Exceptional Children.
Beach Center on Disability
Federal Resource Center http://www.beachcenter.org
for Special Education (FRC) Research and training center that disseminates
http://www.rrfcnetwork.org information about families with members who
Supports a nationwide technical assistance net- have developmental disabilities. Publishes a
work to respond to the needs of students with newsletter, and offers many other publications.
Resources 835
Bureau of Primary Health Care Family Village: A Global Community

http://bphc.hrsa.gov/quality/Cultural.htm of Disability-Related Resources
Web site uses a variety of stories to illustrate http://www.familyvillage.wisc.edu
values and principles one needs to appreciate Global community that integrates information,
and understand when providing culturally com- resources, and communication opportunities
petent care to individuals with disabilities or on the Internet for people with cognitive and
special health care needs. other disabilities, for their families, and for peo-
ple who provide services and support to these
The Center for Universal Design individuals.
http://www.ncsu.edu/project/design-projects/
udi/ Family Voices
Provides publications and information to par- http://www.familyvoices.org 
ents and professionals concerning accessible Web site for a national, grassroots clearinghouse
housing design and financing issues; makes for information and education concerning the
referrals to local organizations. health care of children with special health needs.
Contains links to all state chapters and the vari-
Center on Human Policy ous projects the organization conducts.
http://thechp.syr.edu/
Involved in a range of local, state, national, and Federation for Children with Special Needs
international activities, including policy studies, http://www.fcsn.org
research, information, and referral. Offers parent-to-parent training and informa-
tion; projects include Technical Assistance for
Children’s Disabilities Information Parent Programs (TAPP), Collaboration Among
http://www.childrensdisabilities.info/prematu- Parents and Health Professionals (CAPP),
rity/followup.html and Parents Engaged in Educational Reform
Support site for parents that contains articles, (PEER). Part of the National Early Childhood
lists of books, and web links on premature Technical Assistance System (NEC*TAS) con-
infants and prematurity. Has several links for sortium.
parents of children with disabilities, including
parenting children with special needs, articles National Organization on Disability
on several disorders, and support network links. http://www.nod.org
Contains general information that is written in Promotes the acceptance and understanding of
easily understandable terms. the needs of citizens with disabilities, through
a national network of communities and orga-
The Compassionate Friends nizations; facilitates exchange of information
http://www.compassionatefriends.org regarding resources available to people with
National and worldwide organization that sup- disabilities.
ports and aids parents in the positive resolution
of the grief experienced upon the death of a PACER Center (Parent Advocacy
child; fosters the physical and emotional health Coalition for Educational Rights)
of bereaved parents and siblings. http://www.pacer.org
Provides education and training to help parents
Easter Seals understand special education laws and to obtain
http://www.easter-seals.org appropriate school programs for their children.
Nonprofit, community-based health agency Workshops and program topics include early
dedicated to increasing the independence of peo- intervention, emotional disabilities, and health/
ple with disabilities, especially those with autism. medical services. Also provides a disability-
Offers a range of quality services, research, and awareness puppet program for schools, child
programs. abuse—prevention program services, newslet-
ters, booklets, extensive written materials, and
Exceptional Parent videotapes.
http://www.eparent.com
Magazine published since 1971 that provides Parent Educational Advocacy
straightforward, practical information for fami- Training Center (PEATC)
lies and professionals involved in the care of http://www.peatc.org
children and young adults with disabilities; many Professionally staffed organization that helps
articles are written by parents. parents to become effective advocates for their
836 Resources
children with school personnel and the educa- Feeding, Growth, and Nutrition
tional system.
American Dietetic Association
Parent to Parent http://www.eatright.org
http://www.p2pusa.org World’s largest association of food and nutrition
State and local chapters provide one-to-one, professionals. Web site offers healthy lifestyle
parent-to-parent support by matching trained and nutrition tips and referrals to registered
parents with newly referred parents on the basis dieticians. Publishes the Journal of the American
of their children’s disabilities and/or family issues Dietetic Association.
they are encountering or have encountered.
ComeUnity’s Resources for
The Sibling Support Project
Feeding and Growth of Children
http://www.siblingsupport.org
http://www.comeunity.com/premature/child/
National program dedicated to the interests
growth/resources.html
of brothers and sisters of people with special
Web site contains links to recommended parent
health and developmental needs. Primary goal
discussion lists, articles, and hospitals/institu-
is to increase the availability of peer support
tions that offer feeding therapy.
and education programs for such siblings.
Special Child Dysphagia Resource Center
http://www.specialchild.com http://www.dysphagia.com
Sponsored by the Resource Foundation for Web site contains links to resources on swal-
Children with Challenges (RFCC). Web site lowing and swallowing disorders.
provides parent testimonials, diagnosis-related
Food and Drug Administration (FDA)
information, parent support, and a wide variety
http://www.fda.gov
of information regarding educational and early
Part of the U.S. Department of Health and
intervention services.
Human Services. Provides the latest federal
TASH warnings and updates about foods, drugs, med-
http://www.tash.org ical devices, vaccines, animal feed, cosmetics,
Advocates inclusive education and commu- and radiation-emitting products. Has links for
nity opportunities for people with disabilities, children, consumers, patients, and health care
disseminates research findings and practical professionals.
applications for education and community liv-
ing, and encourages sharing of experience and Formula Manufacturers
expertise. Publishes a newsletter and a journal. The following web sites contain information
about special formulas required by some infants
Team Advocates for Special Kids (TASK) and children with developmental disabilities:
http://www.taskca.org
Offers training, education, support, informa- • http://www.meadjohnson.com
tion, resources, and community awareness pro- (Enfamil Premium Infant, Pregestimil, meta-
grams to families of children with disabilities bolic formulas)
and the professionals who serve them. Conducts • http://www.abbottnutrition.com
an advocacy training course and other work- (Similac Advance, Similac Soy Isomil, meta-
shops, and publishes a bimonthly newsletter. bolic formulas)
TASK’s Tech Center (a member of the Alliance • http://www.shsna.com
for Technology Access) conducts one-to-one (metabolic, ketogenic, and hypoallergenic
guided exploration of technology to determine formulas)
appropriate adapted hardware and software for
• http://www.gerber.com
people with disabilities.
(Gerber Good Start)
Tools for Coping with Life’s Stressors
http://www.coping.org New Visions
Web site contains many links to help parents in http://www.new-vis.com
coping with issues related to raising a child with Provides education and therapy services to
special health care needs, such as tools for com- professionals and parents working with chil-
munication and tools for a balanced lifestyle. dren with feeding, swallowing, oral-motor, and
Also provides information about early identifi- pre-speech problems. Mealtimes catalog offers
cation and intervention. therapy materials, tapes, and books.
Resources 837
Health Care Legal Issues

AAP Medical Home Information Administration for
http://www.medicalhomeinfo.org/how/care_ Children and Families (ACF)
delivery/ http://www.acf.dhhs.gov
This site features several tools and protocols Web site is from the federal agency that pro-
that can assist with coordination of care for vides assistance to the various entities that pro-
children with chronic conditions. vide family assistance, child support, child care,
Head Start, child welfare, and other programs
Guide to the Health Care
related to helping families and children.
Reform and Affordable Care Act
http://www.whitehouse.gov/healthreform/ American Bar Association
healthcare-overview#healthcare-menu Center on Children and the Law
White House guide to Health Care Reform and http://www.abanet.org/child
the Affordable Care Act of 2010. Offers information and advocacy to profession-
als and parents of children and adolescents with
Institute for Child Health Policy
disabilities.
http://www.ichp.edu
Mission is to research, evaluate, formulate, and American Civil Liberties Union (ACLU)
advance health policies, programs, and systems http://www.aclu.org
that promote the health and well-being of chil- Nonprofit organization that is the largest pub-
dren and youth through applied knowledge to lic-interest law firm in the United States. Offers
health-related–systems and outcomes for chil- links to disability rights topics.
dren and youth.
Center for the Child Care Workforce
Maternal and Child Health Bureau/CDC http://www.ccw.org
National Survey of CYSHCN (2005–2006) Web site is maintained by a division of the
http://nschdata.org/viewdocument.aspx? American Federation of Teachers Educational
item=256 Foundation that was set up to support the edu-
http://mchb.hrsa.gov/cshcn05/NF/intro.htm cation of children, advocacy of early child care
These sites offer searchable statistics on child and education, and compensation of profession-
and adolescent health in the United States. als who work with children. Site provides many
State-level Data from the resources available for teachers about educating
National Survey of CYSHCN 2005–2006 children and a newsletter to help professionals
http://cshcndata.org/Content/Default.aspx keep current on issues of interest.
Allows searching of state-level data about child
Disabilities Rights Education
and adolescent health.
and Defense Fund (DREDF)
Supporting the Health Care http://www.dredf.org
Transition from Adolescence to Law and policy center to protect the rights
Adulthood in the Medical Home of people with disabilities. Offers referral and
http://aappolicy.aappublications.org/cgi/con- information regarding the rights of people with
tent/abstract/pediatrics;128/1/182?rss=1 disabilities. Educates legislators and policy mak-
Publication jointly authored by the AAP, the ers about issues affecting the rights of people
American Academy of Family Physicians, and with disabilities; also educates the public about
the American College of Physicians, published the Americans with Disabilities Act (ADA) of
in July 2011, that provides an overview of the 1990 (PL 101-336).
role and components of transition with an algo-
Do2Learn
rithm for providers.
http://www.do2learn.com
20th Anniversary of Web site discusses the legal rights of children
Americans with Disabilities Act with special health care needs and their par-
http://www.census.gov/newsroom/releases/ ents in regard to creating the individual family
archives/facts_for_features_special_editions/ service plan (IFSP). Includes parent-friendly
cb10-ff13.html links to sites that provide information about
This is a link provided by the U.S. Census amendments to the Individuals with Disabili-
Bureau detailing the American with Disabilities ties Education Act (IDEA) and other legal
Act. concerns.
838 Resources
Early Child Development Office of Special

http://www.worldbank.org/children Education Programs (OSEP)
Web site is a knowledge source designed to http://www.ed.gov/about/offices/list/osers/
assist policy makers, program managers, and osep/index.html
practitioners in their efforts to promote the Web site is from the division of the Department
healthy growth and integral development of of Education that oversees IDEA. Provides
young children. Site is in Spanish, Portuguese, information regarding IDEA and other special
French, and Arabic. education initiatives.
Illinois Department of Human Services Parents Helping Parents (PHP)
http://www.dhs.state.il.us/ei http://www.php.com
Web site provides a library of information Web site is sponsored by a California-based not-
services to parents, providers, educators, pol- for-profit organization for parents of children
icy makers, students, and others interested with disabilities. An international consulting
in early intervention issues. Resource library organization for family resources. Site provides
contains books, periodicals, audiovisual, and valuable information for parents regarding laws
other reference materials that can be issued concerning the rights of children with disabil-
for use on loan. Information is for multiple ity, and health care issues. Provides regional and
audiences, but the site also offers Early Inter- state-specific information about support groups
vention, a quarterly newsletter directed specifi- for parents and siblings, as well as information
cally toward parents. on topics such as special education, IDEA, the
No Child Left Behind Act of 2001 (PL 107-
Indiana First Steps Early Intervention 110), and other special education initiatives.
http://www.infirststeps.com/matrix/default.asp
Target audience includes therapists, parents, Medications
service coordinators, and other service provid-
Drug InfoNet
ers for children from birth to age 3. Provides
http://www.druginfonet.com
information pertaining to therapists; mainly
Web site that provides information about drugs,
on administrative issues, enrollment, reim-
diseases, and pharmaceutical manufacturing, as
bursement, and training. Parent information
well as links to related sites.
available for choosing a provider; also provides
other early childhood links. Occupational and Physical Therapy
National Association of Protection American Occupational
and Advocacy Systems (NAPAS) Therapy Association (AOTA)
http://www.icdri.org/legal/natpai.htm http://www.aota.org
Web site provides links to protection and advo- Professional organization of occupational ther-
cacy agencies, located across the United States, apists; provides such services as accreditation
mandated by federal law to serve and protect of educational programs, professional publica-
the rights of people with disabilities. tions, public education, and continuing educa-
tion for practitioners.
National Early Childhood
Technical Assistance Center American Physical
http://www.nectac.org Therapy Association (APTA)
Program that provides responsive technical http://www.apta.org
assistance to the programs supported under Professional membership association of physical
the Individuals with Disabilities Education Act therapists, physical therapist assistants, and physi-
(IDEA) for infants and toddlers with disabili- cal therapy students. Operates clearinghouse for
ties (Part C of IDEA) and for preschoolers with questions on physical therapy and disabilities.
disabilities (Section 619-Part B of IDEA) in all Publishes bibliographies on a range of topics.
states and participating jurisdictions, as well as
Oral Health Care
to the projects funded by the Office of Special
Education Programs under the Early Education American Academy of Pediatric Dentistry
Program for Children with Disabilities. Offers http://www.aapd.org
informational links to IDEA, publications, and National organization representing the specialty
other resources. of pediatric dentistry. Dedicated to improving
Resources 839
and maintaining the oral health of children, and winter ski programs. Local chapters offer
adolescents, and people with special health care activities (e.g., camping, hiking, biking, horse-
needs. Publishes the journal Pediatric Dentistry. back riding, 10K runs, water skiing, whitewa-
ter rafting, rope courses, mountain climbing,
American Society of Dentistry for Children
sailing, yachting, canoeing, kayaking, aerobic
http://www.ucsf.edu/ads/asdc.html
fitness, skiing). Provides year-round sports
Professional organization for specialists in pedi-
and recreational opportunities to people with
atric dentistry. Dedicated to improving the den-
orthopedic, spinal cord, neuromuscular, and
tal health of children through the dissemination
visual impairments, through a national network
of knowledge to professionals and the general
of local chapters.
public through educational programs, public
service efforts, and research. Publishes the Jour- Girl Scouts of the USA
nal of Dentistry for Children. http://www.girlscouts.org
Open to all girls ages 5–17 (or kindergarten
National Institute of Dental
through grade 12). Runs camping programs,
and Craniofacial Research
sports and recreational activities, and service
http://www.nidr.nih.gov
programs. Incorporates children with disabili-
Institute dedicated to the promotion of oral,
ties into general Girl Scout troop activities.
dental, and craniofacial health through study of
Published the book Focus on Ability: Serving
ways to promote health, prevent diseases and
Girls with Special Needs.
conditions, and develop new diagnostics and
therapeutics. International Committee
of Sports for the Deaf
Special Care Dentistry
http://www.deaflympics.com
http://www.SCDonline.org
Gives a history of accomplishments of deaf
National organization of dentists, dental
athletes. Links to regional confederations and
hygienists, dental assistants, nondental health
technical delegates throughout the world.
care providers, health program administrators,
hospitals, agencies that serve people with spe- Little League Baseball,
cial needs, and other advocacy and health care Challenger Division
organizations. Publishes the journal Special Care http://www.littleleague.org/divisions/chal-
in Dentistry. lenger.asp
Online resource provides information and
Recreation and Sports opportunities for boys and girls with disabilities
American Alliance for to experience the emotional development and
Health, Physical Education, the fun of playing Little League baseball.
Recreation and Dance (AAHPERD) National Center on
http://www.aahperd.org Physical Activity and Disability
National organization supporting and assisting http://www.ncpad.org
individuals involved in physical education, rec- Encourages and supports people with disabili-
reation, dance, as well as health, leisure, fitness, ties who wish to increase their overall level of
and education. An alliance of six national asso- activity and participate in some form of regular
ciations. Offers numerous publications. physical activity. Offers searchable directories
American Association of of organizations, programs, and facilities that
Adapted Sports Programs provide opportunities for accessible physical
http://www.aaasp.org activity; adaptive equipment vendors; confer-
Mission is to enhance the health, independence, ences and meetings; and references to journal
and future economic self-sufficiency of youth articles, books, videos, and more. Provides fact
with physical disabilities by facilitating a national sheets on a variety of physical activities for peo-
sports movement and assisting communities in ple with disabilities.
creating the best member programs possible for
The National Sports
youth with disabilities who wish to compete.
Center for the Disabled
Disabled Sports USA (DS/USA) http://www.nscd.org
http://www.dsusa.org Provides therapeutic recreation programs
Offers summer programs and competitions, fit- designed for individuals with disabilities who
ness programs, “fitness is for everyone” videos, require adaptive equipment and/or special
840 Resources
instruction. Offers summer and winter pro- Mission is to research, evaluate, formulate, and
grams; has some scholarships. advance health policies, programs, and systems
that promote the health and well-being of chil-
Special Olympics International
dren and youth through applied knowledge to
http://www.specialolympics.org
health-related–systems and outcomes for chil-
Largest organization to provide year-round
dren and youth.
sports training and athletic competition for
children and adults with intellectual disabili- Job Accommodation Network (JAN)
ties and certain other significant cognitive http://askjan.org/
impairments. Local, state, and national games Information and resources to make workplaces
are held throughout the United States and in accessible to those with disabilities.
more than 150 countries; world games held
every 4 years. National Center on Accessibility
http://www.ncaonline.org
Wheelchair Sports, USA Works with departments of parks, recreation,
http://www.wsusa.org and tourism throughout the United States to
Governing body of various sports of wheel- improve accessibility. Sponsors several train-
chair athletics, including swimming, archery, ing sessions each year throughout the United
weightlifting, track and field, table tennis, and States to educate employers on making their
air weapons. Publishes a newsletter. workplaces accessible.
Yoga for the Special Child
National Center on
http://www.specialyoga.com
Physical Activity and Disability
A comprehensive program of yoga techniques
http://www.ncpad.org
designed to enhance the natural development
Mission of the National Center on Physical
of children with special needs.
Activity and Disability (NCPAD) is to promote
substantial health benefits that can be gained
Transition to Adulthood
from participating in regular physical activity.
Fedcap Rehabilitation Services
National Council on Independent Living
http://www.fedcap.org
http://www.ncil.org
Services include vocational training and job
A national membership association of nonprofit
placement for adults with severe disabilities
corporations that advances the full inclusion
and/or other disadvantages.
of people with disabilities in society and the
Going to College development of centers for independent living.
http://www.going-to-college.org/ Provides members with technical assistance and
Information for teenagers with disabilities about training, publishes a quarterly newsletter, and
what college entails and how to plan for it. sponsors a national conference.
Healthy and Ready to National Gateway to Self Determination

Work Information Center http://www.aucd.org/ngsd/template/index.cfm
http://www.hrtw.org Federally funded initiative that has established
Network that works with local agencies to ensure a model for promoting self-determination and
that all youth with special health care needs compiled a comprehensive searchable database
receive the services necessary to make the transi- on interventions.
tion to all aspects of adulthood, including adult
National Health Care Transition Center
health care, employment, and independence.
http://www.gottransition.org
I’m Determined.org Information and tools for health care profession-
http://www.imdetermined.org/ als, state policy makers, families, and youth to
Lesson plans, brochures, and information about assist youth as they transition to adult health care.
teaching self-determinations skills to adoles-
National Home of Your Own Alliance
cents with disabilities, with material for parents,
http://alliance.unh.edu/nhoyo.html
youth, and educators.
This program is dedicated to helping people
Institute for Child Health Policy with disabilities become homeowners and in
http://www.ichp.edu controlling their homes.
Resources 841
National Institute on Disability library; provides quick-reference and referral

and Rehabilitation Research (NIDRR) information, bibliographic searches, and pho-
http://www.ed.gov/about/offices/list/osers/nidrr tocopies of documents. Publishes several direc-
Provides leadership and support for a com- tories and resource guides.
prehensive program of research related to the
Think College!
rehabilitation of individuals with disabilities.
http://www.thinkcollege.net
National Rehabilitation Information, activities, and tools for teach-
Information Center (NARIC) ers, students, and parents about postsecondary
http://www.naric.com education options for youth with intellectual
Rehabilitation information service and research disabilities.
Index
Tables and figures are indicated by t and f, respectively.
AAC, see Augmentative and alternative communication and physical activity level, 614, 619
Aberrant Behavior Checklist, 286t, 535 and screening for ASDs, 354t
ABLEDATA, 654 and speech-language skills, 334t, 339t
Absence seizures, 490, 491f and TBI recovery, 479–480
vs. complex partial seizures, 490t see also Maternal age
Academic performance Aggression
and ADHD, 373 in Down syndrome, 312
and CKD, 516 treatment of, 387, 538t, 586–587
and learning disabilities, 412 Agonist muscles, 215, 720
Accommodation, 719 Agoraphobia, 528–529
for children with ADHD, 379 Air conduction of sound, 157, 157f, 158f
for children with neuromuscular and musculoskeletal ALARA principle, 207
disorders, 225t Alcohol
in employment, 694 applications and side effects, 814t
of eye, 171f, 178–179 and epilepsy, 494
in neuropsychological testing, 277 and pregnancy, 29, 41, 454
in postsecondary schools, 693 Alignment, and feeding disorders, 128–129, 128f, 136
in special education, 565 Allergies
Accountable care organizations, 710 and ADHD, 388
Acetylcholine, 204t, 719 and feeding problems, 126–127, 135
Acetylcholinesterase, 456 food, 114
Achenbach Child Behavior Checklist, 286t and meningomyelocele, 465–466
Achilles tendon surgery, 442f rates of, 706t
Achondroplasia, 223, 760 Alpha-2-adrenergic agonists
Acidosis, 97, 515, 719 and ADHD, 385
Acquired epileptic aphasia, 493–494 combinations with other medications, 388
Acquired immunodeficiency syndrome (AIDS), 719 glossary of specific medications, 803–818
prevalence and treatment of, 512–513 and psychiatric disorder treatment, 538t
resources on, 823–824 and psychiatric disorders in developmental disabilities, 537
see also Human immunodeficiency virus Alpha-fetoprotein, 720
Acquisition (stage of learning), 592–593 elevated level of, case study, 48
Acupuncture, 676 and NTD, 455–456
Acute lymphocytic leukemia, 510–511, 512, 517t Alpha thalassemia, 49t
Acyclovir, 804t Alprazolam, 804t
Adaptation and assistive-technology interventions, 607, Alternate pathway therapy, 324, 324f, 325f
609–610 and metabolic disorder treatment, 327–328
Adaptive/academic functioning, 275, 287t and specific disorders, 326t
Adaptive Behavior Assessment System-II, 287t Alternative assessment, 573–574
Adaptive functioning, 259, 295 Alternative technology, see Adaptive technology
and associated developmental disabilities, 272t Aluminum hydroxide, 812t
and intellectual disabilities, 294–295, 303 Alveoli, 76, 91–92, 92f, 720
and IQ scores, 301 Amblyopia, 176, 309, 720
Adaptive technology, 642, 719 Ambulation
Adderall, 380t and CP, 429–431, 438, 443–444
Adductor tenotomy, 443f classification of, 430
Adenoidectomy, 313, 719 first step rates, 238, 238f
ADHD, see Attention-deficit/hyperactivity disorder and meningomyelocele, 460, 460t
Adjustment disorders, 532–533, 720 probability curves of, 430–431
Adolescence, 665–666 American Academy of Child and Adolescent Psychiatry
Adult-requiring interventions, 607–608, 607t on ADHD, 376
Adulthood, transition into, 666, 692, 700, 840–841 American Academy of Neurology
case study, 691–692 Practice Parameter for “Neuroimaging of the Neonate,” 93
from pediatric care, 698–699 American Academy of Pediatric Dentistry
AEDs, see Antiepileptic drugs recommendations for dental visits, 637
Age American Academy of Pediatrics
and assistive device benefits, 651 on ADHD, 376
cognitive vs. chronological, 302 and child passenger safety, 481
and dental care, 639 Committee on Genetics, 313
and disability self-acceptance, 664–666 Committee on Sports Medicine and Fitness, 621
and Down syndrome, 308, 314t definition of medical home, 637, 706–707
and epilepsy, 488, 489, 493t, 494 and Down syndrome, 313, 314t
and infantile spasms, 492 eye examination guidelines, 180–181
and intellectual disabilities, 293t, 297 immunization recommendations of, 351
and motor function, 434t and institutional ethics committees, 688
843
844 Index
American Academy of Pediatrics—continued Apgar score, 75, 76, 76t, 721

recommendations for pre-participation examination, 620 Aphasia, 493–494, 721
Task Force on Infant Position and SIDS, 96 Apnea, 75, 94–96, 720
American Academy of Pediatrics’ Council on Children with Apoptosis, 33, 720
Disabilities Appendicovesicostomy, 463
on physical activity, 614 Applied behavior analysis
American Association on Intellectual and Developmental Disability and ASDs, 357–358, 721
on adaptive function, 295 and dental problems, 638
American College of Medical Genetics Arborization, 202
ACT SHEETS for confirming genetic disorders, 66 Architectural Barriers Act of 1968 (PL 90-480), 619
report on universal screening, 62 Aripiparazole, 537, 804t
American College of Obstetricians and Gynecologists Arsenic exposure, 41
and Down syndrome screening, 308–309 ART, see Assisted reproduction technology
and genetic screening, 49 Arthrogryposis, 222, 763
and sepsis detection, 83 resources for, 828–829
American Medical Association Guidelines for Adolescent Articulation difficulties, 338
Preventive Services, 620 ASDs, see Autism spectrum disorders
American Sign Language, 160 Asperger’s Disorder, 247t, 347
Americans with Disabilities Act, 562, 619, 668 case study, 267, 523–524
Amino acid disorders, 63–64, 64t, 69t and language disorders, 339
Amitriptyline, 804t Asphyxia, 721, see Hypoxic ischemic encephalopathy
Amniocentesis, 49, 51t, 53–54, 53f, 720 Aspiration, 130–131, 131f, 478
Amoxicillin, 804t Aspiration pneumonia, 97, 721
Amphetamine Asplenia, 508, 721
applications and side effects, 804t Assent, pediatric, 683, 721
and ADHD, 380–381 Assisted living programs, 696–697
and preschool children, 383–384 Assisted reproduction technology (ART), 56–57
and psychiatric disorders in developmental disabilities, 540 Assistive technology, 642, 721
Amplification, 161–162 abandonment, reasons for, 651t
Amygdala acquiring and selecting, 643, 649
and ADHD, 376 advocacy information for, 654
and autism, 193 and age, 651
and epilepsy, 492f assessment process for, 649, 650f
function of, 193, 720 case study, 641–642
Anemia, 720 ethical considerations, 686
dietary adjustments for, 110t funding for, 652–653
and premature birth, 97 and home care, 652
Anencephaly, 34, 451, 720 injury prevention for children using, 624
Angelman syndrome, 356, 763 levels of, 642–643, 643t
Ankle-foot orthosis, 438, 720 principles for use, 646t
Anotia, 149 provision to children with specific disabilities, 567t
Antagonist muscles, 215, 720 resources on, 832
Antegrade colonic enema procedure, 464 and specific impairments, 647–649
Anterior encephalocele training for, 651
case study, 687–688 types of, 643t, 645–646
Anticipation, phenomenon of, 20 utilization of, 650
Antidepressants Assistive Technology Device Predisposition Assessment, 650
and ADHD, 384–385, 387 Asthma, 127–128, 706t
and brain function, 203 Astigmatism, 179f, 180, 721
glossary of specific medications, 803–818 Asymmetric tonic neck reflex, 428, 429f, 722
and psychiatric disorder treatment, 537, 538t, 721 Ataxia, 433, 478, 722
side effects of, 385 Ataxic cerebral palsy, 433, 433f, 722
Antiepileptic drugs (AEDs) Athetoid cerebral palsy, 432, 722
and dental health, 633, 639 Athetosis, 432, 722
and epilepsy syndromes, 494, 498 Atlantoaxial instability, 623, 722
glossary of specific medications, 803–818 Atlantoaxial subluxation, 310f, 722
and infantile spasms, 493 and Down syndrome, 310, 315
narrow-spectrum vs. broad-spectrum, 498–499 Atomoxetine
and neonatal seizures, 81 applications and side effects, 384, 805t
and NTD, 454 and ADHD, 384, 386, 387
and psychiatric disorder treatment, 539t, 540 combinations with other medications, 388
and seizure type, 498–499, 499t and psychiatric disorder treatment, 539t, 540
side effects of, 488, 499, 500 Atonic seizures, 491
Antihypertensives, 537, 538t Attention
Antipsychotic medication and associated developmental disabilities, 272t
glossary of specific medications, 803–818 measurement scales for, 283t
and psychiatric disorder treatment, 537, 538–539t and neuropsychological assessment, 271, 273
Antipyretics, 495, 721 Attention-deficit/hyperactivity disorder (ADHD), 369–372,
Antiretroviral therapy, 514 371t, 374–377, 722
Anxiety and associated impairments, 247t, 269, 272t, 372–373, 374,
and ADHD, 372–373, 387, 391 378, 382, 525t
and developmental disabilities, 700 and ASDs, 373, 386
effects of, 275 and biofeedback, 675
and epilepsy, 502 case study, 369–370
and intellectual disability, 298t and CAM, 388–389, 673
and medication for treatment, 538t, 539t and conduct disorder, 386–387, 527
see also Emotional disorders developmental patterns of, 241t
Anxiety disorder, 525t, 528–531 diagnosis of, 270, 370, 371t, 372
Index 845
and diet, 43, 115t, 388–389, 532, 674 and thalamocortal connectivity, 195
and Down syndrome, 312 treatment of, 356–361, 536t
and Duchenne muscular dystrophy, 221 Autistic Disorder, 346–347, 347t
and education, 372, 373, 377, 378–379, 567t Automated auditory brainstem response technology, 155, 156
and intellectual disability, 298t, 385–386 Automatic movement reactions, 428, 428f, 430f
and learning disabilities, 254, 373, 408, 410 Automatic reinforcement, 583, 587, 722
long-term trial study of, 390–391 Automatisms, 491, 722
and medication, 379–385, 380t, 382–383, 387–388, 390, 391, Autonomic instability, 477
538t, 539t Autonomic nervous system, 200–201, 200f, 722
and meningomyelocele, 460 Autonomy, 682, 683
and oppositional defiant disorder, 386–387, 527 Autosomal dominant disorders, 723
outcomes of, 389–390, 391 achondroplasia, 223
and premature birth, 100 cause of, 15–16
and psychiatric disorders, 370, 387, 391 and hearing loss, 150t
rates of, 371, 706t inheritance of, 16t, 17f
resources on, 824 Autosomal recessive disorders, 13–14, 723
treatment of, 377–388, 536t and consanguinity, 16f
Atresia, 149, 722 and hearing loss, 149–150, 150t
Atypical neuroleptics and inborn errors of metabolism, 321
and ASDs, 360 inheritance of, 15f, 16t
Audiogram, 158f prevalence of, 14–15
and Down syndrome management, 314t SMA, 218
Audiology, 161, 567t Autosomes, 5, 723
Auditory brainstem responses, 145f Average score, 277, 278f
Auditory function, 159–160, 194 Axon, 201, 201f, 202, 202f, 723
Auditory integration training, 675
Auditory neuropathy spectrum disorder, 155
Auditory processing disorder, 159–160 Baby Doe Amendment, 682
Auditory system, 143f, 144f, 145–146, 145f Baclofen
Auditory toxicity, 94 applications and side effects, 805t
Audiological testing and cerebral palsy, 441
and Down syndrome management, 314t intrathecal, 441–442
Augmentative and alternative communication (AAC), 722 and spasticity treatment, 440f, 478
and ASD, 359 Bacterial spread, 635
and communication disorder treatment, 341 Bankson-Bernthal Test of Phonology, 339t
and speech development, 647–648 Bardet-Biedl syndrome, 150t, 764
types of devices, 648 Barium swallow, 133
Augmentative devices, 642, 722 Basal ganglia, 723
Auricle, 143, 722 and ADHD, 376
Autism Diagnostic Interview, 285t and motor control system, 431f
Autism Diagnostic Inventory, 354 and movement disorders, 195
Autism Diagnostic Observation Schedule, 285t, 354 structure of, 194–195
Autism spectrum disorders (ASDs), 250, 345, 346, 349–352, 722 Basic component skills, 593
assessment of, 353–354 Bayley Mental Development Index, 100
and associated disabilities, 525t Bayley Scales of Infant Development, 282t
and associated impairments, 247t, 269, 272t, 298t, 348 case study, 291
and ADHD, 373, 386 and SCD, 509
and brain, 193, 350 Bed rest complications, 477
case study, 346 Bedtime problems, 585–586
and communication, 348–349 Beery Visual Motor Integration, 285t
and CAM, 360–361, 673–674 Behavior (definition), 234, 255, 257, 723
and dental care, 638 Behavior, maladaptive, 255, 256t, 257, 259–260
developmental patterns of, 241t Behavioral, problematic, 580, 581–582
diagnosis of, 346–347, 348–349, 354 and ADHD, 389–390
and diet, 111, 115–116 and ASD, 349
and discrete trial training, 592–593 and HIV, 513–514
and Down syndrome, 312 and SCD, 509
and Duchenne muscular dystrophy, 221 Behavior disorders
early identification of, 254, 353–355 and epilepsy, 496
and education, 357, 562, 567t and intellectual disabilities, 298
and epilepsy, 488 resources on, 832–833
and eye contact, 348 and SLDs, 410–411
and face processing, 193, 349 support for, 567t, 571
and hope for future, 575t Behavior Rating Inventory of Executive Functioning, 283t
and intellectual disability, 298t, 355, 358 Behavior therapy
and learning disabilities, 339, 355, 406 and ADHD, 377–378
maladaptive behavior in, 358 and developmental disabilities, 536
and medications, 359–360 and intellectual disabilities, 302
vs. pervasive developmental disorders, 345 use with specific disorders, 536t
and physical activity, 615–616 Behavioral economics, 587–588
prevalence of, 352, 706t Behavioral hearing tests, 156
and regression in development, 246 Behavioral observation audiometry, 156
resources for, 824 Behavioral teaching strategies, 591–594
screening tests for, 353, 354t Behavioral therapy, see Operant learning
and sensory integration, 675 Bell curve, 277–278, 278f
and skill acquisition, 592–593 Beneficence, 682
and sleep disorders, 355 Benign epilepsy syndromes, 494, 494f
and social skills, 348, 358–359 Benign sleep myoclonus, 495–496
846 Index
Benzodiazepines Brain dysfunction

glossary of specific medications, 803–818 and development, 248f, 249
and psychiatric disorder treatment, 537, 539t and developmental disorders, 260–261
Benztropine, 805t and Down syndrome, 308
Bernstein, Jane Holmes, 268, 269 and environment, 262f, 263
Beta-blockers, 537, 538t, 723 manifestations of, 262f
Beta thalassemia, 49t Brain function
Bicycle injury, 481 and ADHD, 375–376
Bilevel positive airway pressure, 458 and ASDs, 350
Bilingualism, 337–338 and cerebral palsy, 433f
Binge eating, 532 and communication, 334–335
Binocular vision, 173, 174f localization of, 335
Biofeedback therapy, 675 and neurodevelopmental assessment, 269
Biofeedback training, 464 and reading, 408
Biomedical research, ethical considerations of, 688–689 Brain imaging studies, 184–185
Biotin, 328, 723 Brain injury
Biotinidase deficiency, 328, 765 and cerebral palsy, 426
Bipolar disorder, 723 primary vs. secondary, 475
and associated disabilities, 525t Brain tumors, 511, 517t
and ADHD, 372 Brainstem, 195–196, 195f, 723
diagnosis of, 531 Brainstem auditory evoked responses, 478
treatment of, 531, 536t, 538t, 539t Breastfeeding, 635
Birth asphyxia, see Hypoxic ischemic encephalopathy Breath-holding spells, 496
Birth defects, 47, 56 Breathing complications
resources for, 821 case study, 75
Birth process, case study, 73–74, 75, 76–77, 78, 83–84 Broca’s area, 192, 192f, 335
Birth weight, 88f, 98t, 99 Bronchopulmonary dysplasia, 92–93, 644, 723
Bladder control, 200–201 Bronfenbenner, Urie, 236
and meningomyelocele, 463–464 Brushing teeth, 635–636
Blindness, 182–183 Bruxism, 633, 723
assistive technology for, 186, 647 Budesonide, 805t
and brain imaging studies, 184–185 Bupropion, 385, 805t
and developmental disabilities, 186, 298t Buspirone, 805t
early interventions, 184–185
and education, 185
and genetic therapy, 186 Calcium undecylenate, 806t
and motor skills, 183–184, 184f California Verbal Learning Test, 285
and ocular development, 183–184 Calories, 109, 110–111
resources for, 824–825 CAM, see Complementary and alternative medicine
and socialization, 184 Canavan disease, 49t, 765–766
see also Visual impairment Capute’s triangle, 248f
Blocked shunt, 459, 466 Car safety
Blood pressure and brain injury prevention, 481
and stimulant medication, 382 and cerebral palsy, 438–439
and TBI, 476 Carbamazepine, 806t
Bloom syndrome, 49t Cardiac issues
Body mass index, 108, 109t, 110 and Duchenne muscular dystrophy, 221
Body splint, 438 and neuromuscular / musculoskeletal disorders, 215
Bone conduction of sound, 157, 157f, 158f, 162 and stimulant medication, 382
Bone growth, 215 Cardinality, 409
and musculoskeletal disorders, 225 Cardiorespiratory monitor, 645, 724
Bone metabolism, 500 Care coordination, 708–709
Botulinum toxin (Botox), 723 Career education, 417–418
applications and side effects, 805t Carnitine, 806t
and bladder dysfunction, 463–464 Carrels, 589, 589f
and spasticity treatment, 440, 440f, 441, 478 Carrier infants (of genetic disorders), 68
Bowel dysfunction, 464 Case management, 709
Brachial plexus, 196, 723 Case studies
palsy of, 199 gene mutation, 4
Bradycardia, 94–95, 723 Casting, 439–440, 440f
Braille, 185, 723 Cataracts, 176, 176f
Brain, structure of, 189–196, 190f, 191f, 201–203 and Down syndrome, 309, 314t
and ADHD, 375–376 Categorical diagnosis
and ASDs, 350 of brain dysfunction, 262f
and cerebral palsy, 434–435 of developmental disabilities, 251
and epilepsy, 488–489 vs. etiologic diagnosis, 252–253
Brain damage significance of, 252t
and inborn errors of metabolism, 323 Catheter use, 463, 646, 724
Brain development Caudal regression syndrome, 27, 724
anomalies in, 29 Cavities, 633–636, 634f
and ADHD, 375 Cecostomy, 464, 724
and ASDs, 350 Celiac disease, 114–115, 724
and cerebral palsy, 427f and Down syndrome, 311
and Down syndrome, 308 Cell death, 202–203
and nonsynaptic communication, 32 Cell division, 5
patterns in maturation, 235f Cell structure, 4, 4f
and synaptic communication, 32 Centers for Disease Control and Prevention
and thyroid hormone, 323 on CAM, 673
see also Fetal brain development recommendations for exercise in children, 613
Index 847
Centers for Medicare & Medicaid Services Child development resources, 821–822
and safeguard for care of CYSHCN, 713 Child Find, 549–550
Central nervous system (CNS), 724 Childhood disintegrative disorder, 346
components of, 189 Children and youth with special health care needs (CYSHCN),
development of, 28f 705–706
evaluation of, 203–208 and dental care, 639
and lead exposure, 39 financing health care for, 709–713
signs of issues with, 254 and gap in specialty care, 712
structure of, 190f health care expenditure on, 711t
synapse of, 202f optimal health care, components of, 710t
Central nervous system (CNS) cancers, see Brain tumors and physical activity, 616–617
Central nervous system (CNS) prophylactic treatment, 511 rates of specific conditions, 706t
Cephalexin, 806t rates of specific services used, 706t
Cerebellum, 31, 32f, 190f, 196, 724 Children’s Assessment of Participation and Enjoyment, 605
and ADHD, 376 Children’s Health Insurance Program, 639, 710, 712t
and developmental disabilities, 31 Children’s Orientation and Amnesia Test, 476
function of, 196 Chiropractic therapy, 676
and genetic disorders, 31 CHL, see Conductive hearing loss
and motor control system, 431f Chloral hydrate, 806t
Cerebral cortex, 30, 32–33 Chlorpromazine, 806t
and ADHD, 375–376 Choking, 130
and autonomic nervous system control, 200–201 Chorea, 432
and speech-language development, 334–335 Chorioamnionitis, 426
Cerebral hemispheres, 29, 189–194, 190f, 725 Chorionic villus sampling (CVS), 49, 51, 51t, 52f, 54, 57, 725
Cerebral injury, 80f Choroid plexus, 197
Cerebral ischemia, 375 Chreoathetosis, 432
Cerebral malformations, 299 Chromosomal abnormalities
Cerebral palsy (CP), 423–431, 725 and Down syndrome, 308
and adulthood, 445–446 and intellectual disabilities, 297
assistive technology for, 438–439, 644, 647 and NTD, 454
and associated impairments, 247t, 272t, 435, 437 prevalence of, 6, 9, 14t
and brain function, 192, 196, 427f, 433f, 436 risk in women of various ages, 50f
case study, 84, 423–424 ultrasound findings in, 55t
and complementary and alternative treatments, 444–445, 674 Chromosomal gain, 6–7
and dental care, 638 Chromosomal loss, 7
developmental patterns of, 241t Chromosomal microarray analysis, 21–22, 299, 300t
and employment, case study, 691–692 Chromosome 15 deletion, 356
and epilepsy, 488 Chromosomes, 4, 4f, 5, 725
etiologic diagnosis of, 232, 433–435 Chronic care model of health care delivery, 712–713, 713f
feeding difficulties in, case study, 122, 132, 135 Chronic kidney disease (CKD), 514, 515, 516, 517t
and gait analysis, 443–444 Chronic Kidney Disease in Children (CKiD) Study, 515
and independence, 445–446 Chronic respiratory failure, 644
and injury prevention, 622 Chronological age (vs. cognitive age), 302
and intellectual disabilities, 298, 298t Ciliary muscles, 171, 726
and IQ scores, 249 Cimetidine, 807t
life expectancy, 445 Circle of support, 696
and medication, 437, 441 Circulation, 74, 74f
nutrition concerns of, 115t Citalopram, 807t
and orthopedic procedures, 442–444, 442f CKD, see Chronic kidney disease
and orthotic interventions, 438 Clarithromycin, 807t
phenotypes, 431, 432t Classification of intellectual disabilities, 295–296
and postural reactions, 428 Classroom management, 588–591, 588f, 589f
and premature birth, 425, 426–427, 427f, 434 Cleft palate, 14t, 124, 150, 150t
rates of, 706t Clinical Evaluation of Language Fundamentals, 285t, 339t
and recreation and leisure activities, 617 Clomipramine, 807t
resources for, 825–826 Clonazepam, 807t
and special education-related services, 567t Clonic seizures, 491
and spinal injury, 424f Clonidine, 385, 387, 807t
and strabismus, 179 Clorazepate, 807t
subtypes of, 431–433 Clotrimazole, 807t
treatment of, 436–438 Clozapine, 807t
Cerebrospinal fluid, 197–199, 198f, 725 Club foot, 14t, 461, 726
Cervical spinal injury, 424f CMV, see Cytomegalovirus
Cesarean section CNS, see Central nervous system
case study, 73–74, 725 Coarctation, 7, 726
Cetirizine, 806t Cochlea, 143f, 144f , 144–145, 726
CGH, see Comparative genomic hybridization Cochlear implant (CI), 162f, 162–163, 647, 726
Charcot-Marie-Tooth disease, 218–219 Cod liver oil, 818t
CHARGE association, 150t, 175t Codons, 10, 726
Checklist for Autism in Toddlers, 353 Cognitive age (vs. chronological age), 302
Chelation therapy, 40, 352, 725 Cognitive behavior therapy, 726
Chemical synapses, 203 and ADHD, 378
Chemotaxis, 82, 725 and OCD, 530
Chemotherapy, 151, 511–512, 725 and parental depression, 661
Chest physiotherapy, 644–645, 725 and PTSD, 530–531
Chewing, 124, 136–137 use with specific disorders, 536t
Chiari type II malformation, 54, 458f, 725 Cognitive function
and NTD, 456, 458 and cerebellum, 196
symptoms of, 458 and epilepsy, 503
848 Index
Cognitive function—continued Consequences, 608, 726

and HIV, 513 Conservatorship, 696, 726
and SCD, 509 Constipation, 114, 127, 135, 464
Cognitive impairments Constraint-induced therapy, 437
and assistive technology, 648–649 Context
and TBI, 479 and development, 269–270, 269f
Cognitive remediation program, 511 and early intervention practices, 554
Cognitive strategy instruction, 566 Contiguous gene syndromes, 9, 727
Cognitive stream of development, 244, 244t Continence
College completion and diaper impact, 584, 585f
and cancer treatment, 512 and meningomyelocele, 463–464
and learning disabilities, 417 Continuous Performance Test-II, 283t
Coma, 477–478 Continuous positive airway pressure, 727
Commission on Accreditation of Rehabilitation Facilities, 477 and Down syndrome, 313
Communication, 334–335, 336t and hyaline membrane disease, 91
and ASDs, 348–349 and respiratory support, 644
Communication disorders, 338–341 Continuum of developmental disabilities, 248–249
assistive devices for, 643t, 647–648 Contractures, 216, 225, 727
developmental patterns of, 241t Contusions, brain, 475, 727
and self-injurious behaviors, 535–536 Convergence profile analysis, 270
Community living, 697 case study, 270–271
Comparative genomic hybridization (CGH), 21–22, 55–56 Cooperative learning, 565
Complementary and alternative medicine (CAM) Coordinated health care, 708–709
and ADHD, 388–389 Coping skills, see Family coping skills
and ASDs, 360–361 Copy number variability, 19, 20
and CP, 444–445 Cord compression, 424f
and diet, 117 Corpus callosotomy, 191, 727
and Down syndrome, 315 and epilepsy, 501
and epilepsy, 501 Corrected age, 99
and family-centered approach, 676–677 Cortex
and medical providers, 677 and motor control system, 431f
prevalence of use, 673–674 structure of, 191
risks of, 117 Cortical organization, 31–32
types of, 674–676 Cortical visual impairment, 178, 194
Complete blood count test, 314t Corticospinal tracks, 432
Complete learning trials, 592 Corticotropin, 808t
Complex composite skills, 593 Coteaching, 572
Complex partial seizures, 490t Council for Exceptional Children
Component Model of Reading, 405 on assistive technology, 654
Comprehensive Test of Nonverbal Intelligence, 283t Counseling
Computed tomography (CT) scan, 726 and assistive device use, 651–652
advantages and disadvantages, 208t and intellectual disabilities, 302
and CNS, 203–204 and learning disabilities, 416
and epilepsy, 497 Cranial nerves, 195f , 195–196
function of, 204 Cranial radiation therapy, 511
of hydrocephalus, 199f Cranial sutures, 511
and TBI, 476 Craniosacral therapy, 675
Computer technology, use of, 439, 647, 648–649 Cri-du-chat syndrome, 8, 767
Conceptual skills, 295 resources for, 828
Concerta, 380t Cross-eyed, see Esotropia
Concussion, 475–476 CSHCN, see Children and youth with special health care needs
Conditioned play audiometry, 157 CT scan, see Computed tomography scan
Conduct disorder, 527 Cued Speech, 160
and associated disabilities, 298t, 525t Culpocephaly, 199f
and ADHD, treatment of, 386–387 Custom intervention strategies, 607t, 609
and psychotherapy, types of, 536t Customized employment, 695
Conductive hearing loss (CHL), 147, 149, 158f CVS, see Chorionic villus sampling
and Down syndrome, 309 Cyproheptadine, 808t
and otitis media with effusion, 152 CYSHCN, see Children and youth with special health care needs
vs. SNHL, 156 Cystic fibrosis, 727
Confidentiality, 699 in children with special health care needs, 706t
Congenital adrenal hyperplasia, 327 and ethnicity, 49t
Congenital adrenal hypoplasia, 319–320 mandated newborn screening for, 69t
Congenital heart defects Cystometrogram, 463
and Down syndrome, 309 Cytomegalovirus (CMV)
Congenital heart disease (CHD) and ASDs, 352
and ADHD, 375 and CP, 426
detection, 50, 54–55 and hearing loss, 151
and Down syndrome, 313
Congenital hypothyroidism, 63, 326t, 327
Congenital malformations, 27 Dantrolene, 441
Congenital myopathies, 221–222, 726 applications and side effects, 808t
and sleep apnea, 224 Data-based decision making, 571
Congenital organ malformations, 6 Daytrana, 380t
Connective tissue disorders, 223 DDE, see Dichlorodiphenyldichloroethylene
Conners’ Continuous Performance Test, 283t DDT, see Dichlorodiphenyltrichloroethane
Connexin 26 deafness, 150 Deaf/blindness
case study, 142 and hope for future, 575t
Consanguinity, 16f resources for, 827
Index 849
Deafness, 146, 154–155 measurements of, 550

and associated developmental delays, 298t see also Global developmental delay
resources for, 164t, 826–827 Developmental deviance, 245, 246, 728
Decubitus ulcers, 464–465 Developmental diagnosis, 255, 256t, 257
Deep brain stimulation, 442 categories of, 261, 262f, 263
Deflazacort, 221 Developmental disabilities, 15, 239, 240–241, 728
Delayed stomach emptying, 127 age of presentation of, 253–254
Delayed visual maturation, 178 and associated disorders, 323
Deletion mutations, 12 and associated impairments, 159, 176, 180, 181, 186, 247t
Deletions, 8, 728 and behavioral principles, 579
Demyelination, 219 case study, 84, 243–244
Dendrite, 201, 201f, 202, 202f and cerebellar injury, 31
Dental caries, 633–635, 634f continuum of, 248–249
prevalence of, 634 and developmental testing, 259–260
prevention of, 635–636 diagnosis of, 240, 243, 246, 250, 251, 252–253, 254–255, 256t,
Dental health, 632–633 257, 258–261, 262f, 263
and ASDs, 638 and diet, 107, 109, 110, 111–113, 111t, 115t
care for, 635–636 and early intervention programs, 548
and CP, 638 and education, 257, 268
for children with disabilities, 639 and epilepsy risk, 487–488, 500
cost of services, 639–640 and etiology, 250, 251–252
and diet, 636–637, 637t and exposure to toxicants, 38
and Down syndrome, 310–311, 315, 638 and feeding problems, 121, 129–132, 134–138
and Down syndrome, case study, 631–632 and functional domains, 272t
and meningomyelocele, 638 and genetic disorders, 67
resources for, 838–839 and inborn errors of metabolism, 321, 322
and seizure disorders, 639 and injury risk, 621
Dental home (concept), 637 and language development, 338
Dental problems levels of, 250–252, 251f, 252t
mother-to-child transmission of, 635 and low birth weight, 100–101
Dental sealants, 636, 728 patterns of, 241t
Deoxyribonucleic acid (DNA), 4, 9, 10f, 728 and physical activity, 614
see also Single nucleotide polymorphisms and psychotherapy rates, 536
Depression rates of, 67, 705–706
and ADHD, treatment of, 387 and SCD, 509
and developmental disabilities, 531, 700 spectrum of, 248
diagnosis of, 531 tabulating assessment data, 261t
and Down syndrome, 312 and toilet training issues, 584
effects of, 275 treatment for, 267–268
and epilepsy, 502 see also Psychiatric disorders in developmental disabilities
and meningomyelocele, 467 Developmental disfluency, 339–340
parental, 661 Developmental dissociation, 245, 728
and psychotherapy, types of, 536t Developmental disturbances
and SCD, 509 case studies in, 240
treatment of, 531, 538t Developmental domains, 237t
see also Emotional disorders Developmental-Individual Difference-Relationship Based
Descriptive analysis, 581–582 model, 358
Desipramine Developmental milestones, 239f, 255
applications and side effects, 808t problematic aspects of, 237–238
and death in children, 385 Developmental neurotoxicity, 38, 38f
Detection of genetic disorders, 65t Developmental quotient, 245
Development, 234, 237 and HIV, 513
atypical patterns in, 244–246, 248 Developmental regression, 246, 248
and brain dysfunction, 248f, 249 Developmental screening, 259–260
context for, 235, 269–270, 269f and Child Find, 549–550
disassociated, 240 and early intervention programs, 549
disturbances in, 239–240 tests for, 550
divergent, 239–240 Developmental theories, 235–237
and joint attention, 268 Deviation scores, 277–278
milestones of, 237–238, 238f Dexedrine, 380t
and the nervous system, 234–235 Dexmethylphenidate, 812t
patterns in, 237–239 Dextroamphetamine, 808t
and problem behavior, 255, 257 Diabetes, 454, 706t
rates of, 239f Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition
regression in, 246, 248 (DSM-5)
schemes of, 237, 237t and learning disabilities, 403
streams of, 244, 244t and psychiatric disorders, 526–527
Developmental age, 238–239 Diagnostic and Statistical Manual of Mental Disorders, Fourth
and developmental quotient, 245 Edition, Text Revision (DSM-IV-TR)
Developmental assessment, 268, 270 and ADHD, 370, 371t
Developmental cerebellar cognitive affective syndrome, 31, and autism, 345, 346
728 and Autistic Disorder, 347t
Developmental coordination disorder, 374 and classification, 251
Developmental delays, 238–239, 245, 728 and definitions, 232
and associated developmental disabilities, 298t, 728 Diagnostic classification, 249–250
case study, 231, 240 and developmental disabilities, 250
and CKD, 515–516 and ethics, 686–687
compensation for, 239, 239f importance of, 250t
intervention strategies for, 269–270 Diagnostic overshadowing, 700
850 Index
Diagnostic technology Down syndrome, 6–7, 7f, 307–309, 768

limitations of, 56 and age, 314t
Diagnostic testing, 62 and associated impairments, 150t, 153, 312
for intellectual disabilities, 299 and atlantoaxial subluxation, 310, 310f, 315
vs. screening test, 62 case study, 307
Diapers, 584, 585f challenges of, 316
Diazepam and comorbid disorders, 298t, 309–313, 524, 525t
applications and side effects, 808t and congenital heart problems, 309, 313
and CP, 441 and dental health, 310–311, 315, 638
and spasticity treatment, 440f and dental health, case study, 631–632
Dichlorodiphenyldichloroethylene (DDE), 42 detection of, 50, 51, 52, 308
Dichlorodiphenyltrichloroethane (DDT), 42 diagnosis of, case study, 686–687
Diencephalon, 194, 195f, 729 and diet, 110t, 115t
Diet, 107 and domains of disability, 296t
adjustments to for specific conditions, 110t early identification of, 308–309
and allergies, 114 and early intervention programs, 315
and ADHD, 43, 388–389 and education, 315, 316
and ASDs, 360 and employment, 316
and CAM, 117, 674 and family coping skills, case study, 657–658
and dental health, 636–637, 637t and injury prevention, 623
ketogenic, 114 and IQ score, 294, 308
and metabolic disorders, 65 life expectancy, 316
and nutrition support formulas, 113, 114t maternal risk of, 50f
and PKU, 116t and neuron structure, 201f
and PKU, case study, 108 and neuropathologic abnormalities, 308
and poor weight gain, 132 and obesity, 309–310
and rickets, 116 and orthopedic problems, 310
self-restriction of, 115–116 and physical activity, 615, 616
and steroid use, 226 and physical activity, case study, 614
therapeutic, 113–114 rates of, 14t, 307–308, 706t
Dietary restriction treatment, see Substrate deprivation recurrence risk of, 297
treatment resources for, 827–828
Dietary supplements, 674 and screening for behavioral disorders, 315
Differential Abilities Scale–II, 283t treatment of, 312–313, 315
Differential diagnosis, 260 Dried blood samples, 685
Differential reinforcement of alternative behaviors, 582 Drug trials, 689
Differential reinforcement of other behaviors, 582, 729 Drugs, see Medications
Differentiated instruction, 571 DSM-5, see Diagnostic and Statistical Manual of Mental Disorders,
Differentiation of neurons, 201 Fifth Edition
Diffuse axonal injury, 475 DSM-IV-TR, see Diagnostic and Statistical Manual of Mental
case study, 474 Disorders, Fourth Edition, Text Revision
Diffuse hypoxic injury, 78f Dual diagnosis, 699–700
case study, 78 Dual discrepancy model, 565
Diffusion tensor imaging, 205–206, 427f Dubowitz scoring system, 89, 90f
Diffusion-weighted imaging, 79, 205–206 Duchenne muscular dystrophy, 12, 16–17, 220f , 220–221
Digestion, 126f case study, 686
Digital Finger-Tapping, 286t and need for respiratory support, 644
Diphenhydramine, 809t prevalence of, 14t
Diplegia, 248 and respiratory issues, 221
Direct instruction, 566, 594 and steroid treatment, 224, 225–226
Disabilities Ductus arteriosus, 74
classification of, 231–232, 233, 233t Ductus venosus, 74
definition under Section 504 of Americans with Disabilities Duloxetine, 809t
Act, 562 Duoderm, 809t
domains of, 295–296, 296t Durable medical equipment, 652–653
legal definitions of, 233–234, 562 Dynamic systems theory of development, 236–237
qualification of under IDEA, 562 Dysarthria, 246, 247t, 478–479
Disability diagnosis Dyscalculia, 404, 409, 415, 416
and stress on family, 659–661 Dyscontrol syndrome, 496
Disassociated development, 240, 245, 246 Dyskinesias, 432
case study, 240 Dyskinetic cerebral palsy, 424f, 433f
Discrepancy model, 405–406, 564 Dyslexia, 404, 407, 408
Discrete trial training, 592–593 case study, 240
Displacement loop (mitochondrial), 19f see also Specific reading disorder
Distribution curve, normal, 277–278, 278f Dysmorphic appearances, 6
Divergent development, 239–240 Dysphagia, 730
case study, 240 and developmental disabilities, 121
Division of Early Childhood resources for, 836
and early intervention recommendations, 551 and TBI, 478
DNA, see Deoxyribonucleic acid Dysplasia, skeletal, 222–223
DNA sequencing, 22 Dystonia, 432, 439–442, 440f, 478, 730
Domains of disability, 295–296, 296t Dystonic cerebral palsy, 432–433
Domains of functioning, 271, 273–275 Dystrophin gene, 16–17
Donepezil, 315
Dopamine
and ADHD, 374, 375, 376 Eagle Barrett syndrome, 515, 730
characteristics of, 204t Ear, 143–145, 143f, 144, 144f, 149
Dorsal induction, 28f Eardrum infection, 159f
Index 851
Early hearing detection and intervention system, 142t, 143, 155 resources for, 840
Early intervention, 553–555 transition from school, 692–694
case study, 547–548 Employment rates, 574, 694
and Down syndrome, 315 and cancer treatment, 512
eligibility for, 550 Enamel hypoplasia, 632
and legislation, 548–549, 549t Encephalitis, 352
principles of, 548, 552t Encephalocele, 451
provision of, 547 Encephalopathy, HIV-related, 513, 514
resources on, 833–834 Encephalopathy, neonatal, 79t
and school participation, 603 Enclaves (of employment), 695
service plan elements, 551t End-of-life decisions, 687–688
services under, 551–552 End stage renal disease, 514, 515, 516
and special education services, 552, 553 Endocrine disorders, 63
value of, 548 Endocrine disrupting chemicals, 42
Early Start Denver Model, 357 Endoscopic third ventriculostomy, 199, 459
Early stepping, 238, 238f Endoscopy, 133–134
Eating disorders, 532 English language learners, 406
Echolalia, 339, 348 Enriched environments, 583, 731
ECMO, see Extracorporeal membrane oxygenation, 730 Enteral feeding, 112, 136f, 138
Ecological systems model, 659, 730 Environment
Economic concepts of behavior, 587–588 and anxiety/depression, 700
Education and ASDs, 351–352
accommodation in, 279 and brain dysfunction, 262f, 263
and assistive technology, 648–649 classroom, optimization of, 589, 589f
and ADHD, 376–377 and developmental change, 235
and ASD treatment, 357 and genes, 3
behavioral teaching strategies, 591–594 and hearing loss, 150–151
and CP, 437, 446 and heredity, 22
and developmental disabilities, 257, 268 and intellectual disabilities, 297
and Down syndrome, 315 and intrauterine tooth development, 632
and hearing loss, 163–165, 165t and neurobehavioral disorders, 38
and intellectual disability, 301, 303 and physical activity safety, 625
and learning disabilities, 411–412 see also Toxicants
legislative history, 559, 560f Environmental contingencies of problem behaviors, 586–587
and meningomyelocele, 466 Environmental disorders, 3
and neuromuscular disorders, 225t, 225–226 Environmental interventions, 607–608, 607t, 609–610
and psychiatric disorders in developmental disabilities, 535 Enzyme deficiency, 319, 320f
resources for, 834 and autosomal recessive disorders, 13–14, 15
and visual impairment, 185 and inborn errors of metabolism, 322
see also Special education see also specific deficiencies
Education for All Handicapped Children Act of 1975, 559, 560f Enzyme replacement therapy, 322, 326t, 328
Education of the Handicapped Act, 560f Eosinophilic gastroenteropathies, 126–127
Educational therapy, 536t EPA, see U.S. Environmental Protection Agency
EEG, see Electroencephalography Epigenetics, 10, 21
Electrical synapses, 203 and ASD, 350
Electroencephalogram biofeedback, 675 and developmental disorders, 20
Electroencephalography (EEG), 207, 731 and in vitro fertilization, 20
and ADHD, 389 and relation with ART, 57
and ASDs, 354 Epilepsy, 488, 731
and epilepsy, 490, 491f, 494f, 497 and age, 488, 489, 493t
for intellectual disabilities, 300t and associated impairments, 272t, 502, 503, 535
and neonatal seizures, 80–81, 81f and ASDs, 355
Electrolytes, 496–497, 731 and brain structure, 488–489
Electromyography (EMG), 207, 217 case study, 488
Electrophysiological testing, 182, 217 classes of, 490–491, 490t, 492, 492f, 496
Electroretinogram (ERG), 179–180, 182, 731 classification of, 489, 490t, 497
Elementary and Secondary Education Act of 1965, 560f and CAM, 501
EMG, see Electromyography and developmental disabilities, 487–488
Emotional disorders diagnosis of, 487, 496–497
and associated functional domain deficits, 272t and diet, 115t, 500–501
and attention-deficit/hyperactive disorder, 372–373 and Down syndrome, 311
in children with special health care needs, 706t and genetics, 495
and classroom placement, 569t and intellectual disability, 298t
and developmental disabilities, 531 and medication, 495, 498–501
and hope for future, 575t mimicking conditions, 495–496, 495t
measurement scales for, 286–287t outcomes of, 502–503
and neuropsychological assessment, 275 prevalence of, 487
and SCD, 509 recurrence risk of, 500
and SLDs, 410–411 resources for, 828
and TBI, 480 risk of developing, 495
Emotional processing, 193 treatment of, 501–502
Emotional support, 700 Epilepsy syndromes, 492–494, 493t
Employer-based insurance coverage, 710 and AEDs, 498
Employment, 693, 694, 695 Equinus position of the feet, 431
case study, 561, 691–692 ERG, see Electroretinogram
and CP, 446 Erthromycin, 809t
habilitation programs for, 695 Escitalopram, 809t
and intellectual disabilities, 303, 316 Esotropia, 174f, 178–179
852 Index
Essential fatty acids, 389 Family-centered care approach, 660–661

Ethics, 681–689 and CAM, 676–677
in end-of-life decisions, case study, 687–688 principles of, 667–668, 667t
of intervention, case study, 686 Family-centered early intervention, 554
Ethics committees, institutional, 688 Family-centered medical home, 436t, 707t
Ethnicity Family-centered services, 551–552, 667
and ASDs, 352 Family coping skills, 661–662
and genetic disorders, 49t with adolescent child, 665–666
and NTD, 454, 455 and assistive technology use, 651–652
and premature birth, 90 and ADHD, 377, 378
and renal disease, 515 and ASDs, 361
and SCD, 508 barriers to, 663
and special education, 563–564 case study, 657–658
Ethosuximide, 809t and early intervention programs, 548
Etiologic diagnosis, 252–253 effect on child with disability, 664–666
of developmental disabilities, 250, 251–252, 263 and epilepsy, 502
of disabilities, 232 of extended family, 664
guidelines for, 263 for intellectual disabilities, 302
of intellectual disabilities, 297–298 and learning disabilities, 416
and medical history, 254–255 and PTSD, 662
significance of, 252, 252t with preschool-age child, 664–665
European Food Standards Agency and psychiatric disorders in developmental disabilities,
and ADHD, 43 534–535
Eustachian tube, 143–144, 143f, 732 and religious belief, 659
Evidence-based practice resources for, 661, 834–836
and complementary and alternative approaches, 677 response to diagnosis, 659–660
of early intervention services, 554–555 and school inclusion, 665
and physical/occupational therapy, 609–610 of siblings, 663–664
and special education, 571, 572 and TBI, 481
Executive function, 273 with young adult child, 666
and associated developmental disabilities, 272t Family history, 48, 257
and ADHD, 373 Famotidine, 809t
and learning disabilities, 410 Fanconi anemia, 49t
location in brain, 192 Farsightedness, 179f, 180
and math ability, 416 FASD, see Fetal alcohol spectrum disorder
measurement scales for, 283–284t Fatty acid oxidation disorders, 64–65
and meningomyelocele, 460 detection in newborns, 64t, 69t
and neuropsychological assessment, 273 and diet, 110t
and SCD, 509 FDA, see Food and Drug Administration
and stimulant medication, 379–380 Febrile seizures, 494–495
Exercise Federal agencies offering disability support, 819–820
and CP, 437–438 Feeding difficulties, 121, 130–132
duration, typical, 619 and alignment, 128f, 129, 136, 137f
and meningomyelocele, 465 and anatomical defects, 124
see also Physical activity appetite, 138
Exotropia, 174f, 178, 179, 732 and aspiration, 130–131, 131f
Experiential knowledge, 610 case study, 122, 125, 132, 135
Exposure-and-response prevention therapy, 530 and CP, 435
Expressive language, 335 diagnostic procedures, 133–134, 134f
Expressive language disorder, 247t and environment, 137–138
Expressive One-Word Picture Vocabulary Test, 339t management of, 134–138
Extended family coping skills, 664 and medical conditions, 125–128, 135–136
Extinction, in differential reinforcement, 582, 583 and oral motor skills, 136–137
limitations of, 587–588 and positioning, 135, 136, 137f
and operant learning, 580 resources for, 836
viability in treatment of problem behaviors, 587–588 and sensory and motor systems, 128–129
Extracorporeal membrane oxygenation (ECMO), 77–78, 151, and TBI, 478
732 and trunk support, 137f
Extrapyramidal cerebral palsy, see Dyskinetic cerebral palsy Feingold Program, 388, 674
Eye abnormalities Felbamate, 809t
and genetic disorders, 175t Fetal alcohol spectrum disorder (FASD), 732
Eye contact diagnosis of, 41
and ASDs, 348 and domains of disability, 296t
Eye development, 170–174, 170f, 171f, 172f, 174f, 175f and psychiatric disorders, 525t, 526
abnormalities in, 174 recurrence risk of, 297
and blindness, 183–184 resources for, 828
milestones of, 174, 176 Fetal alcohol syndrome, 29, 41
Eyeglasses prescription, 180 Fetal brain development, 25–26, 29f, 75, 189–191, 234
Fabry disease, 322, 326t abnormalities in, 27t
Facial movements, 34 of CNS, 28f
Facial processing, 193, 349 of cerebellum, 31
Fall prevention, 481 and motor behavior, 33–34
False-negative results, 62, 62f, 67–68 neural tube formation in, 28f
False-positive results, 62, 62f, 65, 66, 68 patterns in, 235f
Familial dysautonomia, 49t, 770 phases of, 26–33, 27t
Family, 554, 659, 667–668, 667t and postconceptional age, 26
and assistive device use, 646t Fetal cell testing, 55–56
and therapy process, 603 Fetal circulation, 74, 74f
Index 853
Fetal development, 74–75 Galactosemia, 175t, 326t, 771–772

abnormal, 26f, 254 Gamma aminobutyric acid (GABA), 204t
and environmental factors, 38–39 and ASDs, 360
ocular, 174, 175f and brain development, 30, 32
Fetal DNA testing, 50–51 and disability treatment/CP, 192
Fetal echocardiography, 52, 54–55 Gastroesophageal duodenoscopy, 133–134, 733
Fetal heart rate monitoring, 89 Gastroesophageal reflux disease (GERD)
case study, 73–74 and Down syndrome, 311
Fetal movements, 33–34 and premature birth, 97
Fight or flight response, 200, 200f Gastroesophageal reflux (GER), 126f, 733
Financial assistance, 695–696 and assistive technology, case study, 641–642
resources for, 712t, 820 cause of, 126
Financial problems, 711–712 and feeding difficulties, 130, 135
Fingernail biting, 586 and feeding tube technology, 645–646
First breath, 76 Gastrointestinal fluid assistance, 645–646
First-trimester genetic screening, 49–51 Gastrointestinal dysmotility, 132
First-trimester maternal serum screening, 50–51 Gastrointestinal tract, 125, 126f
First-trimester ultrasound, 50 Gastrointestinal problems
FISH, see Fluorescent in situ hybridization and ASD, 355–356
Flexible endoscopic evaluation of swallowing, 133 and Down syndrome, 311
Flossing, 636 and nonstimulant medication, 384
Fluconazole, 809t and stimulant medication, 381
Fluency, 593, 733 Gastrojejunal (G-J) tube, 136, 136f, 138, 734
see also Prosody Gastronomy (G) tube, 112, 113t, 734
Fluency disorders, 339–340 Gastroschisis, 734
Fluid-attenuated inversion recovery, 205, 205f case study, 48
Fluorescent in situ hybridization (FISH), 21, 55, 733 Gastrosomy tube, 645
Fluoride, 636 Gaucher disease, 772
Fluoxetine, 810t and ethnicity, 49t
fMRI, see Functional magnetic resonance imaging resources for, 829
Focalin, 380t treatment of, 322, 326t, 327, 328
Folic acid, 453, 455 GDD, see Global developmental delay
Food additives, effects of, 43, 388 Gender
Food allergies, 114, 126–127 and ADHD, 371–372
Food and Drug Administration (FDA) and ASDs, 352
and antidepressants, 537 and cancer treatment outcomes, 512
and assistive technology, 642 and dual diagnosis, 700
study on diet and attention-deficit, 43 and NTD, 453, 454
Foramen ovale, 74 and psychiatric disorders in fragile X syndrome, 524
Forced-use therapy for cerebral palsy, 437 and renal disease, 515
Fosphenytoin, 810t and siblings of children with disabilities, 663–664
Fragile X syndrome, 20 and TBI rates, 474
and ASDs, 356 Gene/environment interaction, 249
and intellectual disability, 298t Gene expression, 9–10
and learning disabilities, 407 Gene mutations, 222
prevalence of, 14t Gene therapy for metabolic disorders, 325f, 329
and psychiatric disorders, 524, 525t General intelligence
and social phobia, 529 and associated developmental disabilities, 272t
Frame shift mutation, 12, 12f measurement scales for, 282–283t
Free appropriate public education, 559 and neuropsychological assessment, 271
Free beta human chorionic gonadotropin, 50 Generalization, 591, 593–594
Frequency (sound), 144–145, 144f, 146, 146f, 147f Generalized anxiety disorder, 528, 536t
Frontal lobe Generalized seizures, 489, 490–491, 490t, 491f
and epilepsy, 492f Genes, 3, 4, 9, 13, 14
and speech-language development, 334–335 Genetic analysis, 21–22
structure of, 191–192 and ASDs, 354
Functional assessment, 581–583 Genetic code, 9
Functional domains Genetic disorders, 3, 4–5, 9, 13, 14
and associated developmental disorders, 272t and ASDs, 356
and neurodevelopmental measures, 282–287t and cerebellar injury, 31
and neuropsychological evaluations, 271, 273–275 dealing with diagnosis of, 66–67
use in understanding development, 237, 237t detection, 65t
Functional limitation (domain of disability), 296, 296t and ethnicity, 49t
Functional magnetic resonance imaging (fMRI), 205, 206f and eye abnormalities, 175t
advantages and disadvantages, 206, 208t and hearing loss, 149–150, 150t
and ADHD, 376 and intellectual disabilities, 297
and epilepsy, 497 and in vitro fertilization, 56
Fundoplication, 135–136, 136f, 733 managing, 66–67
Furosemide, 810t prevalence of, 13, 14t, 22, 47
Future outcomes, hope for, 575t resources for, 822, 828–830
risks of, 48
warning signs of, 258
GABA, see Gamma aminobutyric acid Genetic factors, 453–454
Gabapentin, 810t Genetic information storage, 685
Gagging, 130 Genetic screening, 21, 22, 48, 49
Gait, 216 case study, 48
analysis of, 443–444 limitations of, 56
and regression, 248 for musculoskeletal and neuromuscular disorders, 217
854 Index
Genetic screening—continued Hearing

during pregnancy, 49–56 amplitude, 146
psychosocial implications of, 57–58 components of, 336t
resources for, 822 and language function, 335
second-tier testing, 65–66 milestones of, 154
see also Newborn screening pitch, 146
Genetic therapy, 186 Hearing aids, 161–162, 161f
Genome wide association studies, 375 case study, use of, 142
Genomic imprinting, 21 Hearing impairment, 146, 147–153
GER, see Gastroesophageal reflux age of presentation, 253
GERD, see Gastroesophageal reflux disease assistive technology for, 161–162, 647
Gestational age and associated impairments, 148, 153, 160, 272t, 338
assessment of, 89, 90f case study, 141–143
and birth weight, 88f and CP, 435
menstrual dating and, 87 developmental patterns of, 241t
Giant depolarizing potentials, 32 diagnosis of, 145, 153, 154, 155–160, 156, 157, 157f
Gingivitis, 635 and Down syndrome, 153, 309, 313
Glasgow Coma Scale, 476 early intervention for, 153, 160
Glaucoma, 173, 173f and education, 163–165, 165t
Global developmental delay (GDD), 245–246, 291 and education, case study, 142
age of presentation, 254 and environmental factors, 150–151
identification of, 292–293 and frequency, 146, 147f
and intellectual disability, 246, 292 genetic, 149–150, 150t
and IQ scores, 245–246 and hope for future, 575t
risk factors for, 292–293 and injury prevention, 623–624
Glossary of terms, 719–755 and intellectual disabilities, 152–153, 298t
Glucose metabolism levels, 376 interventions for, 160–165
Glutamate, 204t mandated newborn screening for, 69t
Glutarimide, see Thalidomide and middle ear disease, 151–152, 151f
Glycine, 204t, 734 rates of, 153–154
Glycogen storage disease, 773 risk indicators for, 149t
and ethnicity, 49t services for, 163–164, 164t
resources for, 829 and special education-related services, 567t
treatment of, 110t, 326t and TBI, 478
Glycopyrrolate, 810t Hearing screening
Goldman-Fristoe Test of Articulation, 284t, 339t and Down syndrome management, 314t
Golgi apparatus, 4f, 10 for newborns, 151
Graduation, rate for children with disabilities, 574 types of tests, 156–157, 159–160
Grand mal seizures, 491 Hearing system, 143, 143f, 145f
Grandparent coping skills, 664 function of, 144f, 145–146
Gross Motor Function Classification System, 434t structure of, 143–145
and CP, 433 Heart development, 74
levels of, 430 Heel cord lengthening, 442f
Group home living, 697 Hematologic disorders, 311
Group therapy, 536t Hemiplegia, 194, 735
Growth Hemispherectomy, 735
as cause of injury, 621 in children vs. adults, 193–194
and kidney disease, 515 and epilepsy, 501
and nutrition, 109t, 110–111 and language recovery, 194
parameters of, 108 Hemoglobin test, 314t
resources for, 836 Hemoglobinopathies, 69t
and stimulant medications, 381–382 Hereditary motor and sensory neuropathy, see Charcot-Marie-
Growth attenuation therapy, 687 Tooth disease
Guanfacine HHS Secretary’s Advisory Committee on Heritable Diseases in
applications and side effects, 385, 810t Newborns and Children, 68–69
and ADHD, 385, 386 Hi/Lo readers, 565
and tic disorders, 387 HIE, see Hypoxic ischemic encephalopathy
Guardianship, 696 High-quality instruction, regulation of, 572
High school
and employment rates, 694
Habit disorders, 586 graduation rate of students with disabilities, 574
Hair pulling disorder, 528 and learning disabilities, 414–415
Haloperidol, 810t and physical activity requirements, 613
Hard of hearing, 146 High stakes testing, 572–574
Head posture, abnormal, 180 High-tech assistive technology, 643, 643t, 735
Health care, 708–709, 710t, 712–714 Higher Education Opportunity Act, 693–694
expenditures on, 711t, 714 Highly active antiretroviral therapy, 514
financing of, 709–713 Highly qualified teachers, regulation of, 572
in medical home, 707t Hip alignment, 136, 137f
outcome assessment, 715t Hip dislocation, 442–443, 443f, 444f
quality indicators, 714, 714t Hippocampus, 193, 735
reform of, 706, 709–710 and ADHD, 376
resources for, 837 and autism, 193
transition from pediatric to adult, 698–699 and epilepsy, 492f
Health insurance, 710–713 Hippotherapy, 618, 676, 735
Health literacy, 699 Histamine, 204t
Health Resources and Services Administration HIV, see Human immunodeficiency virus
report on universal screening, 62 Holoprosencephaly, 29, 735, 774
Index 855
Homocystinuria, 175t, 326t, 328 Independent living, 695–696, 697

Hope for the future, 575t Independent residential alternatives, 696–697, 737
Hospital ethics committee, 687 Indirect assessment, 581, 737
Housing, 696–697 Individualized education program (IEP), 737
Human development, 234 case study, 561
Human Genome Project, 9, 70 legislative requirements of, 566, 568
Human immunodeficiency virus (HIV), 63, 512–513, 514, 517t and parental involvement, 574
Human research subjects, 688–689 and PE, 618
Humidity, 625 and special education services, 566, 568–570
Hunter syndrome, 322, 784–785 transition of, 570
Hurler syndrome, 175t, 326t, 784 Individualized Family Service Plan (IFSP), 550–551, 551t, 553,
Hyaline membrane disease, 91–92, 92f, 93f, 735–736 737
Hydration, 625 Individuals with Disabilities Education Act (IDEA)
Hydrocephalus, 197–199, 199f, 736 and ADHD, 379
and associated impairments, 459–466 annual goals under, 568–570
and Chiari type II malformation, 458f and assistive technology, 642, 652
and dental care, 638 and Autistic Disorder, 357
detection of, 54 and CP, 437
and meningomyelocele, 458, 460, 468 definition of blindness, 182
and NTD, 451 definition of disability, 233–234
and strabismus, 179 definition of special education, 559
warning signs of, 258 and developmental delay, 550
Hydrocortisone, 810t and epilepsy, 502
Hydroxyurea treatment, 517t and free appropriate public education, 559
Hyoid bone, 123 and funding of care, 712t
Hyperbaric oxygen therapy, 674–675 and hearing loss, 160, 164
Hyperkalemia, 515, 736 and IEP, 566
Hyperopia, 179f, 180, 736 and intellectual disabilities, 293
Hypertonia, 215, 736 and learning disabilities, 404–405
Hypoglycemia, neonatal, 81–82, 736 and school-to-work transition, 692–693
case study, 76–77 services under Part B, 165t
Hypomania, 531, 736 services under Part C, 164t
Hypoplasia, lung, 77 and societal acceptance of disability, 668
Hypoplasia, optic nerve, 177 and special education services, 561–562
Hypothyroidism, 736 and special education teacher qualifications, 573t
and Down syndrome, 309, 312, 313 and TBI, 411, 480
and psychiatric disorders, 535 versions of, 560f
Hypotonia, 215, 424 Industrial contamination, 40, 41
Hypoxia, 77f, 97, 736 Infant formula, 634–635
Hypoxic ischemic encephalopathy (HIE), 78–80, 80f, 736 Infant-Toddler Social and Emotional Assessment, 287t
and brain damage, 425f Infantile spasms, 492–493, 737
and CP, 425, 427 Infants and Toddlers Program (Part C of IDEA)
and selective vulnerability, 425f Child Find, 549–550
Hypsarrhythmia, 492 eligibility for early intervention, 550, 552–553
minimum components of, 549t
purposes of, 548
Ibuprofen, 811t rates of services received, 553
IDEA, see Individuals with Disabilities Education Act services provision, 551–552
IEP, see Individualized education program Infection
IFSP, see Individualized Family Service Plan and ASD, 352
Imipramine, 811t and CP, 426
Immune disorder screening, 63 and hearing loss, 151
Immunization Infectious disease screening, 63
and neuromuscular disease, 224 Inferior vena cava, 74, 737
of premature infants, 97 Inhibitive casting, 439–440, 440f
Impairment (domain of disability), 296, 296t Injury risk, 621
Impulse control disorders, 527–528 in children with disabilities, 621–622
In vitro fertilization, 20, 56, 57, 737 and developmental disabilities, 621
Inborn errors of metabolism, 319–323, 320f, 737, 757–758 and environmental assessment, 625
and developmental disabilities, 321, 322 and equipment use, 624–625
diagnostic testing for, 323–324, 758 and prevention, 622–624, 625
and external supplementation, 327 Insertion mutations, 12
glossary of specific syndromes, 757–801 Institutional ethics committees, 688
presenting in acute metabolic crisis, 321–322, 321t Institutional Review Board, 689
with progressive neurological deterioration, 321, 321t, 322 Instruction, educational, 589–590
rates of, 319, 325 Instrumental stresses, 660
resources for, 758–759, 828–830 Insulin-dependent diabetes, in pregnancy
screening for, 325 case study, 73–74
treatment of, 325–329, 325f, 326t Insurance coverage
types of, 321, 321t for CYSHCN, 711–712
see also Metabolic disorders for health care, 698, 710–713
Incidental teaching, 584, 737 Integrative medicine, 673, 737
Inclusion, 565, 603, 665 Intellectual disabilities, 6, 293, 297–298, 299, 737
Incontinence and associated impairments, 247t, 272t , 294–295
and diaper impact, 584, 585f and associated disorders, 17, 20, 525t, 526
and epilepsy, 502 and ADHD, treatment of, 385–386
and meningomyelocele, 463–646 and ASDs, 355, 358
Independent adulthood, 665–666, 692 and behavior therapy, 302
856 Index
Intellectual disabilities—continued and PKU, 326–327

and CP, 435 predictive validity of, 300
classification of, 295–296 and premature birth, 99
and comorbidity, 298–299, 298t, 302 and rates of intellectual disability, 296–297
and developmental delay, 246, 292, 298–299, 298t and SCD, 509
developmental patterns of, 241t and SLDs, 405
diagnosis of, 232, 257, 299 and visual processing assessment, 274
and education, 301, 303, 567t, 569t Iron deficiency, 311, 388
and employment, 303 Ischemic injury, 78–79, 738
and epilepsy, 488 Isotretinoin, 811t
evaluation of, 300t Isovaleric acidemia, 326t, 776
false diagnosis of, 563
and hearing loss, 152–153
and injury prevention, 623 Jacksonian seizure, 492, 738
and intellectual functioning, 293–294, 295 Jejunostomy (J) tube, 645, 738
interventions for, 267–268 Joint attention, 268
and IQ scores, 294, 295, 300–301, 303 Joint Commission on Accreditation of Healthcare Organizations
and leisure and recreation needs, 301–302 and ethical conflicts, 688
and medications, 302 Joint Committee on Infant Hearing
and meningomyelocele, 460–461 on auditory screening, 94
“mild” vs. “severe”, 295 Joint Committee on Infant Hearing
and PKU, 327 recommendations on diagnosing screening loss, 143
and physical activity, 615, 616 recommendations on hearing screen protocol, 155
presentation by age, 293t Joint problems, 216–217, 706t
psychological testing for, 299–301 Joubert syndrome, 356, 776–777
rates of, 296–297, 706t Justice, 682–683
resources for, 830 Juvenile myoclonic epilepsy, 494
risk factors of, 292–293
and study of behavioral principles, 579
treatment of, 267–268, 301–303 Kangaroo care, 98
Intelligence scores Karyotype, 21, 738
change over time, 277 and Down syndrome management, 314t
and cranial radiation therapy, 511 for intellectual disabilities, 300t
distribution of, 294f Kernicterus, 432
see also IQ scores Ketogenic diet, 114, 116t, 738
Interconnections, cerebral, 194 and epilepsy treatment, 500–501
Internal capsule, 194 Klinefelter syndrome, 14t, 407, 777
International Classification of Functioning, Disability and Kyphectomy, 462
Health (ICF) Kyphoscoliosis, 738
and assistive technology, 650 and Duchenne muscular dystrophy, 221
and health care, 697–698 and meningomyelocele, 461
and participation assessing, 605 Kyphosis, 216, 738
International Classification of Functioning, Disability and and achondroplasia, 223
Health for Children and Youth, 233, 251 and kyphectomy, 462
International Classification of Mental and Behavioral Disorders, and meningomyelocele, 461, 462f
232
International League Against Epilepsy, 489, 490
International Reading Association Labyrinth of inner ear, 143f, 738
statement on teaching writing, 415 Lactase deficiency, 127
Interpersonal psychotherapy, 661, 737 Lamotrigine, 811t
Intervention Landau-Kleffner Syndrome, 493–494, 778–779
ethics of, 686 Language disorders
evidence-based, 609–610 cause of, 338
Intervention strategies, 605–609 and CP, 435
categories and levels of, 607t symptoms of, 339
Intracytoplasmic sperm injection, 56–57 Language functioning, 339t
Intrathecal baclofen, 441–442, 478 Language learning, 335, 337
Intrauterine development, 26 age of presentation of difficulties, 254
Intrauterine growth restriction, 88–89, 738 and associated developmental disabilities, 272t
Intravenous (IV) fluid assistance, 646, 738 and ASDs, 348–349, 353
Intraventricular hemorrhage (IVH), 93–94, 738 and blindness, 183–184
case study, 685–686 and brain, 192f, 235, 334–335
IQ scores and Bronfenbenner’s model, 236
and ASDs, 357, 361 case study, 268–269, 273–274
and cancer treatment, 511, 512 and developmental disabilities, 247t, 260–261
and CP, 249 and Down syndrome, 312
and CKD, 516 and hearing loss, 160
distribution of, 294f measurement of, 255, 284–285t
and Down syndrome, 308 and neuropsychological assessment, 273
and Duchenne muscular dystrophy, 221 regression in, 246
and etiologic diagnosis of disability, 251–252 Language socialization, 337
and general intelligence assessment, 271 Lanolin, 811t, 818t
and global developmental delay, 245–246 Lansoprazole, 811t
and HIV, 513 Latex allergy, 465–466
and intellectual disability, 294, 295 Law, and ethics, 682–683
limitations of, 271, 294, 301, 303, 412 Law of Effect, 580, 738
and meningomyelocele, 460, 467–468 Lead exposure, 38–40
and neuropsychological assessment, case study, 274 case study, 39
Index 857
Learning and memory skills and retinopathy of prematurity, 177

and associated developmental disabilities, 272t survival of infants with, 98, 98t
measurement scales for, 285t Low bone density, see Osteopenia; Osteoporosis
and neuropsychological assessment, 274 Low-tech assistive technology, 642–643, 643t, 648, 739
Learning disabilities, 738 Lowe syndrome, 175t, 780
areas of impairment in, 247t Lower esophageal sphincter, 126
assessment of, 412 Lower motor neuron, 430f
assistive technology for, 643t, 648–649 Lower motor neuron system, 431f
and associated disorders, 407–408 Lung development, 75, 76
and ADHD, 254, 373 Luque procedure, 445f
and ASD, 355, 406 Lyonization, 18, 739
and education, 411–412, 414–415, 417–418, 567t, 569t Lysosomal storage disorders, 69–70
and counseling, 416 diagnosis of, 324
and developmental dissociation, 246 and newborn screening, 69
developmental patterns of, 241t treatment of, 327, 328
and environmental toxicants, 38, 41–43 warning signs of, 258
and hearing loss, 148, 159, 163–165
and hope for future, 575t
and metabolic disorders, 329 MacArthur-Bates Communicative Development Inventories, 339t
outcomes of, 417–418 Macrocephaly, 350, 739
and PCBs, 38 Maddocks questions, 475–476
and premature birth, 100 Magnesium hydroxide, 812t
resources for, 830–831 Magnetic resonance spectroscopy, 206–207, 206f, 739
risk factors, 411 and epilepsy, 497
and social cognition, 416 Magnetic resonance imaging (MRI), 52, 205, 739
see also SLDs advances in, 205–206
Learning disorder, 403, 404 advantages and disadvantages, 208t
Learning environment optimization, 589, 589f and ADHD, 375–376
Learning/instructional hierarchy, 591–594, 738 and ASDs, 350, 354
Learning Media Assessments, 185 of brain, 190f
Least restrictive environment, 568 and CNS, 205–207
Left hemisphere brain systems, 408 and CP, 426–427, 426f, 434–435
Legal authority, parental, 683 diffusion-weighted imaging technique of, 79
Legal definitions of disability, 233–234 and epilepsy, 497
Legal guardianship, 696 of fetus, 54f
Legal resources, 837–838 of hydrocephalus, 199f
Legislation of HIE, 80f
and barriers to physical activity, 619 and meningomyelocele, neurological deterioration in, 466
and IEPs, 566, 568 for musculoskeletal and neuromuscular disorders, 218
and societal acceptance, 668 during pregnancy, 54
and special education, 559, 560f and TBI, 476
and transition planning, 692–693 use in premature births, 93–94
Leisure and recreation Magnetoencephalography
and CP, 617 and ASDs, 350
and epilepsy, 502 and epilepsy, 497
importance of, 699 Major depressive disorder, 525t, 739
and intellectual disabilities, 301–302 Maladaptive behavior
resources for, 839–840 and ASDs, 358
Leiter International Performance Scale-Revised, 283t and physical activity, 616
Lennox-Gastaut Syndrome, 493 quantification of, 259–260
Lesch-Nyhan syndrome, 323, 526, 779 Maladaptive behavior disorders, see self-injurious behavior
Leukemia, 311, 510, 738 Malocclusions, 739
see also Acute lymphocytic leukemia and dental health, 635
Levels of developmental disability diagnosis, 250–251, 251f, 252t and Down syndrome, 311
Levetiracetam, 811t Malone procedure, 464
Levothyroxine, 812t Managed care organizations, 712
Library resources, 820 Maple syrup urine disease (MSUD), 780
Life course perspective, 553–554 dietary adjustments for, 110t
Life support withdrawal, 687–688 and ethnicity, 49t
Limited English proficiency, 406 mandated newborn screening for, 69t
Lindane, 812t treatment of, 326t
Lipoma, 452 Marfan syndrome, 175t, 739, 781
Lissencephaly, 30, 739, 779–780 Mass spectrometer, 65, 739
Lithium, 537, 540 Massage therapy, 675
applications and side effects, 812t Matching Persons and Technology model, 650
Localization of brain functions, 335 Maternal age
Lorazepam, 812t and ASDs, 352
Lordosis, 216, 739 and Down syndrome, 308
Lortadine, 812t and NTD, 453
Low birth weight, 88, 88f, 739 and premature birth, 91
and ADHD, 375 Math disorder, 249, 415–416
care of infants with, 97–98 see also Specific mathematics disability
and CP, 425 McGill Abbreviated Concussion Evaluation, 476
and developmental disabilities, 100–101 Measles, mumps, and rubella (MMR) vaccine, 351
discharge from hospital of infants with, 99 Meconium, 75, 739
and hearing loss, 151 Medicaid, 710
and motor impairments, 616–617 and case management, 709
and premature birth, 90 and dental care, 639
858 Index
Medicaid—continued outcomes of, 467–468

eligibility for, 696 and sensory/functional loss, 457f
overview, 712t and spinal deformities, 462f
waivers for CYSHCN, 713 survival rates of, 467
Medicaid early and periodic screening, diagnosis, and treatment Mental Development Index scores
program, 549 and premature birth, 99
Medical assistive technology, 642, 643–644, 643t, 740 and SCD, 509
Medical history Mental health problems, see Psychiatric disorders
and ADHD, 376 Mental retardation (term), 293
and developmental disabilities, 254–255 Mercury exposure, 40–41
and epilepsy, 496 and ASDs, 351–352
and etiologic findings, 254–255 Messenger ribonucleic acid (mRNA), 10, 10f, 740
Medical home care, 709, 837 Metabolic acidosis, 515
Medical home (concept), 637, 706–707, 707t, 708, 740 Metabolic bone disease, 515, 740
Medical Home Index, 709 Metabolic disorders
Medical nutrition therapy, 107, 112 and alternative pathway treatment, 327–328
Medical research, ethics of, 688–689 child outcomes of, 329
Medical testing . psychological testing, 275–276 and developmental disabilities, 323
Medical treatment, lack of, 267–268 diagnostic testing for, 64t, 323–324
Medicare, 696, 710 dietary intervention in, 65
Medications, 740 and enzyme replacement therapy, 328
and ADHD, 379–385, 387–388, 390, 391 and external supplementation, 327
and ASDs, 359–360 and gene therapy, 329
and bowel control, 464 glossary of specific disorders, 757–801
and CP, 437, 441 impact on pregnancy, 67
and dental health, 633 inborn, types of, 321t
and epilepsy treatment, 495 and learning disabilities, 329
glossary of specific medications, 803–818 and neurotoxins, 323
and hearing loss, 151 newborn screening for, 63–64
and intellectual disabilities, 302 and organ transplant, 328–329
and learning disabilities, 417 rates of, 319, 325
management of, 383 risks of, 319
and NTD, 454 screening for, 325
for neuromuscular disorders, 224 symptoms of, 321–322
and psychiatric disorders, 536–537, 538–539t, 540 treatment of, 325–329, 325f, 326t
resources on, 838 and vitamin cofactor provision, 328
for seizures, 498 see also Inborn errors of metabolism
and SCD, 510 Metabolic testing, 300t
testing of, 689 Metachromatic leukodystrophy, 326t, 782
see also AEDs; Stimulant medication Metadate CD, 380t
Medium chain acyl-CoA-dehydrogenase deficiency Methylin, 380t
case study, 61 Methylmalonic acidema, 326t, 329
newborn screening for, 64–65 Methylmalonic aciduria, 328, 782
Medulla, 195, 195f Methylmercury, 351–352
Meiosis, 3, 5, 6, 740 Methylphenidate
and nondisjunction, 6f applications and side effects, 812t
MELAS syndrome, see Mitochondrial encephalomyopathy, lactic and ADHD, 380–381, 385–386
acidosis, and stroke-like episodes combinations with other medications, 388
Melatonin, 674, 740 and preschool children, 383–384
Memory Methylprednisolone, 812t
and ADHD, 378 Metoclopramide, 813t
and executive function, 410 Miconazole, 813t
and SLDs, 409–410 Microboard, 696
and specific reading disorder, 407 Microdeletion, 4–5
testing, 377 case study, 244
see also Learning and memory skills and intellectual disabilities, 299
Mendelian traits, 13, 740 Microdeletion syndromes, 8–9
and genomic imprinting, 21 Microencephaly, 30
Meningitis, 740 Micropreemie, 88, 740
and ASD, 352 Microtia, 149
and CP, 426 Mid-tech assistive technology, 643, 643t, 648, 740
and hearing loss, 151 Midbrain, 195, 195f
neonatal, 83 Middle ear disease
Meningocele, 452, 740 and hearing loss, 151–152
Meningomyelocele, 454f, 740 treatment of, 151f
and adulthood transition, 467 tympanogram, 159f
and associated impairments, 459–467 Middle ear function, 157, 159
and ADHD, 460 Middle school
case study, 452–453 and learning disabilities, 414–415
and dental care, 638 Miglustat, 327–328
and education, 466 Migraines, 706t
financial strain of, 467 Milestones, developmental, 237–238, 238f, 256t
form of spina bifida, 452 calculation of, 245
and latex allergy, 465–466 and CP, 423
location of, 457f and developmental delays, 255, 293
management of, 467 and developmental delays, case study, 291–292
and mobility, 460, 460t and language learning, 255
neonatal treatment of, 456 and TBI, 480
and neurological impairments, 456, 456t, 458, 466 Milk scan, 133, 134f
Index 859
Mineral oils, 811t, 813t, 814t Muscle abnormalities, 215–216

Missense mutation, 12, 12f Muscle function
Mitochondria, 19 agonist and antagonist, 215
Mitochondrial disorders, 19, 783 and brain function, 196
resources for, 830 in infant, case study, 213
Mitochondrial DNA, 19f Musculoskeletal system, 215, 741
Mitochondrial encephalomyopathy, lactic acidosis, and stroke- Muscular dystrophies, 220–221, 785–786
like episodes (MELAS), 19, 783 in children with special health care needs, 706t
Mitochondrial inheritance, 19, 20f and injury prevention, 622–623
Mitosis, 3, 5, 6, 741 resources for, 831
Mixed cerebral palsy, 433, 741 and sleep apnea, 224
Mixed receptive and expressive language disorder, 247t see also Duchenne muscular dystrophy
MMR vaccine, see Measles, mumps, and rubella vaccine Musculoskeletal abnormalities
Mobility impairments and meningomyelocele, 461–462
and meningomyelocele, 460t risk from amniocentesis, 54
and NTD, 460 Musculoskeletal disorders
Modification, educational, 565, 741 management of, 224–226
Modified Checklist for Autism in Toddlers, 353 resources for, 831–832
Modified Dubowitz examination, 89, 90f symptoms of, 215–217
Moebius syndrome, 356, 783 testing for, 217–218
Monitoring and surveillance devices, 645 types of, 222–223
Mononeuropathy, 218 Music therapy, 675
Montelukast, 813t Mutations, 11–13, 741
Mood disorders, see Emotional disorders Mutilated dentitions, 633
Mood stabilizers Myasthenia gravis, 219–220, 741, 786
and ASDs, 360 resources for, 831
and psychiatric disorder treatment, 539t Myelination, 33, 203, 741–742
and psychiatric disorders in developmental disabilities, 537, 540 and brain development, 234–235, 235f
Morphology, 335 and lead exposure, 39
Mosaic trisomy, 308 Myoclonic jerks, 494
case study, 686–687 Myoclonic seizures, 490–491
Mosaicism, 7–8, 741 Myoglobinuria, 224
and diagnosis of chromosomal abnormalities, 258 Myopathies, congenital, 221–222, 224
and Down syndrome, 308 Myopia, 179f, 180, 742
Motivation, 581 Myopic degeneration
Motor control system, 431f case study, 169–170
Motor development, 428f
Motor impairment
case study, 600–601 Nägele rule, 89
and NTD, 456 Naltrexone, 813t
and SCD, 509 NAS, see U.S. National Academy of Sciences
and TBI, 477–478 Nasogastric (NG) tube, 136f, 138, 645, 742
Motor milestones case study, 78
and CP, 423 Nasojejeunal (NJ) tube, 645, 742
and postural reactions, 428 National Association for Sport and PE
Motor point block, 440–441, 741 and state requirements for PE, 618
Motor skills National Association for the Education of Young Children
assessment for therapy, 604–605 statement on teaching writing, 415
and ADHD, 374 National Center for Learning Disabilities
in blind children, 183–184, 184f and transition IEPs, 570
and brain, 191, 431f National Center for Medical Rehabilitation Research Model of
development of, 235, 238 Disability, 233, 233t, 295–296
and developmental disabilities, 247t, 272t National Center on Accessible Instructional Material
and Down syndrome, 312 and assistive technology, 649
measurement scales for, 286t National Center on Educational Statistics
and neuropsychological assessment, 274–275 and learning disorders, 417, 418
and physical activity, 617 National Center on Physical Activity and Disability, 615
regression in, 248 National Center on Secondary Education and Transition
Motor stream of development, 244, 244t survey on hope for future, 575t
Motor strip, 190f, 191, 191f young adult employment, 574
and epilepsy, 492f National Early Intervention Longitudinal Study
Motor tic, 355 and early intervention, 552–553
Motor vehicle accidents, 481, 482 National Health and Nutrition Examination Survey
Movement disorders, 195 on hearing loss, 153–154
MRI, see Magnetic resonance imaging National Health Interview Survey (NHIS)
mRNA, see Messenger ribonucleic acid (mRNA) on use of CAM, 117
MSUD, see Maple syrup urine disease National Reading Panel
MTA study, see Multimodal Treatment of Attention Deficit report on research-based reading instruction, 413–414
Hyperactivity Disorder study National Research Council
Mucolipidosis IV, 49t recommendations on autism treatment, 356
Mullen Scales of Early Learning, 282t National Study of Children with Special Health Care Needs
Multifactorial inheritance, 14t, 741 findings on dental care, 639
Multimodal Treatment of Attention Deficit Hyperactivity National Survey of Children with Special Health Care Needs,
Disorder (MTA) study, 390–391 705
Multinutrient supplementation, 389 on coordinated care, 708
Multiple carboxylase deficiency, 326t, 785 and insurance coverage, 711
Multiple disabilities (term), 406 on medical homes, 708
Multiple intraluminal impedance, 133, 741 Natural environments
Mupirocin, 813t and early intervention services, 552t, 554
860 Index
Natural environments—continued rehabilitation for, 224–225

and generalization training, 594 resources for, 831–832
and physical/occupational therapy, 606 and sensory symptoms, 216
NCLB, see No Child Left Behind Act of 2001 symptoms of, 215–217
Nearsightedness, 179f, 180 testing for, 217–218
Necrotizing enterocolitis, 87, 96, 742 types of, 218–222
Negative punishment, 580–581, 580f Neuromuscular system, 213, 214f, 215
Negative reinforcement, 580, 580f Neuron, 201, 201f, 202, 202f
Neonatal encephalopathy, 79t Neuronal activation, 31–32, 33
Neonatal hypoglycemia, 81–82 Neuronal migration, phase of brain development, 30–31, 30f, 39
Neonatal language use, 337 Neuropathy
Neonatal meningitis, 297 definition, 218–219
Neonatal seizures, 80–81, 742 and Down syndrome, 308
and AEDs, 81 Neuroplasticity, 436
and EEG, 81f Neuropsychological assessment, 267–268, 270
Neonatal sepsis, 82–83 accommodation in, 277
Neonatal stroke, 82, 82f case study, 267, 268–269, 270–271, 273–274, 279
Nerve blocks, 440f, 742 continuing care following, 279
Nerve conduction studies, 207 implementation of recommendations, 278–279
Nerve impulse, 191–192 and management of conditions, 275–279
Neural pathway development, 32 and referrals, 275
Neural proliferation, phase of brain development, 29–30 reliability of, definition, 276
Neural tube defects (NTDs), 451, 454f, 742 of specific skills, 271–275
and associated impairments, 459–466 standardization of, definition, 276
causes of, 453–455 and TBI, 479
diagnosis of, 455–456 validity of, establishing, 276–277
and epilepsy treatment, 501 Neurosurgery, 441–442
and ethnicity, 454, 455 Neurotoxicants, 37, 38f, 43, 323, 743
and folic acid supplementation, 455 Neurotransmitters, 203, 204t, 743
and gender, 453, 454 Newborn screening, 62–68
prevalence of, 14t, 453, 455 case study, 61
prevention of, 455 disorders detected by methods other than tandem mass
resources for, 831 spectroscopy, 65t
screening tests for, 455–456 and ethical considerations, 684–685
see also Meningomyelocele; Spina bifida and ethical considerations, case study, 684
Neural tube development, 28f, 454f expanded panel of, 684–685
Neuralation, phase of fetal brain development, 27–28, 28f future of, 70
Neurobehavioral disorders, 38 for hearing loss, 151, 153, 155
Neurobehavioral stream of development, 244, 244t impact on children with disabilities, 67
Neurobiology, 409 for metabolic disorders, 63–64, 325
Neurocognitive assessment resources, 822 recommended testing panel for, 69t
Neurocognitive domains, see Functional domains for SCD, 509
Neurocognitive prosthetics, 439 and state laws, 68, 69, 69t, 70, 684
Neurocognitive stall, 480 Newborn Screening Saves Lives Act, 68
Neurodevelopmental assessment, 261t, 269, 282–287t NHIS, see National Health Interview Survey
Neurodevelopmental disabilities, 268 Niemann Pick disease, 49t, 787
Neurodevelopmental therapy, 742 Nitisinone, 327
and CP, 437 No Child Left Behind (NCLB) Act of 2001, 412, 572–574
and occupational/physical therapy, 609 Nondiscriminatory evaluation for disabilities, 563
Neurofibromatosis, 12, 16, 787 Nondisjunction, 6, 743
and learning disabilities, 407 Nonketotic hyperglycinemia, 323
prevalence of, 14t Nonmaleficence, 682
resources for, 829 Nonsense mutation, 12, 12f, 743
Neurogenesis, 30, 742 Nonstimulant medication, 384–388
Neuroimaging Nonsynaptic communication, 32
and ADHD, 376 Nonverbal communication, 349
and ASD, 350, 354–355 Nonverbal learning disability, 272t
and brain tumor treatment, 517t Norepinephrine, 204t, 374
and CP, 434–435 Norepinephrine reuptake inhibitors
and epilepsy, 497 and ADHD, 384
and HIE, 79 glossary of specific medications, 803–818
and intellectual disabilities, 300t Norm-referenced tests, 277
and learning disabilities, 408 Normalizing, 662
and neonatal sepsis, 83 Nortriptyline, 813t
techniques of, 203–207, 208 NTDs, see Neural tube defects
and TBI, 476 Nuchal translucency, 50, 55
Neurological development, 25, 75 Nucleus, 4f
Neurological dysfunction, see Brain dysfunction Numeracy development, 416
Neurological examination, 258–259 Nutrition assessment, 109t, 112, 112t, 113t
Neurological impairments Nutrition issues
and meningomyelocele, 456t and CAM, 117
and NTD, 456, 458 and developmental disabilities, 109, 111t, 113–116
Neuromuscular disorders with particular developmental disabilities, 115t
assistive technology for, 647 for premature infants, 116
and education, 225–226 Nutrition support, 112–113
management of, 224–226 formulas for, 113, 114t
of neuromuscular junction, 219 resources for, 836
nutrition concerns of, 115t schedule for, 113t
Index 861
Nutritional analysis, 133 Organ of Corti, 144, 144f, 145, 743

Nutritional assistance, 645–646, 743 Organic acid disorder, 69t
Nutritional requirements, 108, 109 Organic acid disorders, 64t
Nystagmus, 179–180, 743 Organic acidemias, 326t, 743
Nystatin, 813t Ornithine transcarbamylase (OTC) disorder, 4, 324, 324f,
744
comparison with normal subject, 206f
OAE tests, see Otoacoustic emissions technology treatment of, 326t, 328–329
Obesity, 110 Orocutaneous stimulation, 136, 744
dietary adjustments for, 110t Oropharynx, 125f, 744
and Down syndrome, 309–310 Orthodontic care, 637
maternal, 454 Orthopedic problems
and meningomyelocele, 465 and Down syndrome, 310
rates in children with disabilities, 614 and hope for future, 575t
Obsessive-compulsive disorder (OCD), 529–530, 743 Orthopedic procedures
and hair pulling, 528 and CP, 442–444, 442f
and medication for treatment, 538t and meningomyelocele, 461
and PANDAS, 530 and spasticity treatment, 478
and psychotherapy, types of, 536t Orthotics
Obstetric complications, 350–351 and CP, 438
Occipital lobe, 194, 743 and meningomyelocele, 460, 461–462
and epilepsy, 492f Osteogenesis imperfecta, 223, 789
Occult spinal dysraphism, 451–452, 452f and eye abnormalities, 175t
Occupational therapists, 599–600, 603–604, 606, 609 resources for, 830
Occupational therapy Osteopathic treatment, 675–676
and evaluation/assessment, 604–605 Osteopenia, 744
and evidence-based practice, 609–610 and CP, 435
frameworks of, 601–603, 604t and injury prevention, 624
implementation of, 606 Osteopetrosis, 175t
intervention strategies, types of, 607–609 Osteoporosis, 624, 744
and natural routines, 606 Osteotomy, 223, 744
vs. physical therapy, 599–600, 601 Otitis media with effusion (OME)
resources for, 838 and Down syndrome, 309
specific disabilities requiring, 567t and hearing loss, 151–152
team structure, 603–604 treatment of, 151f
traditional services, 601–602, 602t tympanogram, 159f
and WHO ICF, 602–603 Otoacoustic emissions (OAE) technology, 145, 155, 156, 744
OCD, see Obsessive-compulsive disorder Ototoxic medications, 151, 744
Ocular development, 174, 175f, 176, 183–184 Overflow movements, 258
Office of Special Education and Rehabilitative Services Overrepresentation of minorities in special education, 563–564
and student placement, 568, 569t Overt stroke, 508, 744
Office of Technology Assessment Overweight, rates of, 614
on medical technology assistance, 643–644 Oxcarbezepine, 814t
Olanzapine, 813t Oxidative phosphorylation, 19, 744
Oligodendrocytes, 33, 425, 743 Oximeter, 645, 744
Oligodontia, 632 Oxybutynin, 814t
Oligohydramnios, 75, 743 Oxygen, 644, 645
Olmstead decision, 697
Omeprazole, 814t
One-Stop Career Centers, 693 Palliative epilepsy surgery, 501
Oogenesis, 6, 7 Pallid infantile syncope, 496
Operant learning, 579–581 Panayiotopoulos syndrome, 494
and ASDs, 358 PANDAS, see Pediatric autoimmune neuropsychiatric disorders
automatic reinforcement, 583 associated with Streptococcus
and bedtime problems, 585–586 Panic disorder, 528–529, 529t, 744
and behavioral economics, 587–588 and medication for treatment, 539t
and habit disorders, 586 and psychotherapy, types of, 536t
social-negative reinforcement, 583 Paraprofessionals, 572
social-positive reinforcement, 582 Parasomnia, 496, 744
and toilet training, 585 Parental coping skills, see Family coping skills
treatment of routine oppositional behavior, 584 Parental involvement
Oppositional defiant disorder, 527 and adulthood outcomes, 666
and associated disabilities, 525t in physical activity promotion, 615, 625
and ADHD, treatment of, 386–387 and special education, 574
and intellectual disability, 298t Parental problems
and psychotherapy, types of, 536t and ADHD, 378
Ophthalmology, 314t, 743 and epilepsy, 502
Ophthalmoscope, 176, 743 and learning disabilities, 416
Optic nerve, 171–172, 172f Parenteral feeding, 112, 646, 744
Optic nerve hypoplasia, 177 Parents
Optokinetic nystagmus, 181 and depression, 661
Oral conditions, 632–633 and family support, 662
Oral health care resources, 838–839 medical authority of, 683
Oral losses, 129–130 resources for, 834–836
Oral motor skills training of, 536t
development of, 123–124 Parietal lobe, 192–193, 744
and feeding difficulties, 128, 129, 136–137 Paroxetine, 814t
Oral-motor structures, 124–125, 125f Paroxysmal autonomic instability, 477
862 Index
Partial seizures, 489, 491–492 Phenytoin, 815t

focal clonic seizure, 492 Phonics, 413, 745
simple partial seizure, 492f Phonological awareness, 407, 413
simple vs. complex, 489, 491 Phonological processing disorders, 338, 407, 745
Participation Phonology, 335, 745
and adolescent development, 666 Photoreceptors, 171, 745
benefits of, 665 Photoscreening, 181
clearance for, 620–621 Physical activity, 613, 614–615
measurement of, 603 and aging, 619
in schools, 605 and ASDs, 615–616
Participation-based framework, 602–603, 604t, 605, 606 barriers to, 615, 619
Patent ductus arteriosus, 96, 745 case study, 614
Pathologic fractures, 225 and CP, 617
Pathophysiology (domain of disability), 295–296, 296t and equipment use, 624–625
Patient Protection and Affordable Care Act, 698, 714 and maladaptive behaviors, 616
Patterning therapy, 676 preparation for, 619–621
Payment, for health care system, 709–713 promotion of, 699
PCBs, see Polychlorinated biphenyls risks of, 621–622, 625
PE, see Physical education specialized programs for, 617, 618
Peabody Development Motor Scales, 286t Physical education (PE), 618
Peabody Picture Vocabulary Test, 339t Physical examination
Pedestrian injuries, 481 for developmental disabilities, 258–259
Pediatric assent, 683 for intellectual disabilities, 300t
Pediatric autoimmune neuropsychiatric disorders associated with Physical therapists
Streptococcus (PANDAS), 530 additional training for, 609
Pediatric care, transition from, 698–699 responsibilities of, 606
Pediatric ethics, 683 role of, 599–600, 603–604
Peer Assisted Learning Strategies, 565–566 Physical therapy, 601
Peer socialization case study, 83–84, 600–601
and intellectual disabilities, 301–302 and evaluation/assessment, 604–605
and meningomyelocele, 466–467 and evidence-based practice, 609–610
Peer support frameworks used in, 601–603, 604t
in adolescent development, 665 implementation of, 606
tutoring, 565–566 intervention strategies, types of, 607–609
PEG tube, see Percutaneous endoscopic gastronomy tube and muscle disease, 224–225
Penicillin, 814t vs. occupational therapy, 599–600, 601
Pennsylvania Association of Retarded Citizens v. progress monitoring, 606–607
Commonwealth of Pennsylvania, 560f resources for, 838
Percentiles, 277 specific disabilities requiring, 567t
Perchlorate, 42 team structure, 603–604
Percutaneous endoscopic gastronomy (PEG) tube, 478 traditional services, 601–602, 602t
Periodontal disease, 635–636, 745 and WHO ICF, 602–603
and Down syndrome, 310–311, 315 Physician-patient communication, 683–684
Peripheral nervous system, 199–201, 207, 745 Physiotherapy, 437
Peripheral neuropathy, 39 Piaget, Jean, 268
Peristalsis, 123, 124, 745 Pica, 532, 633, 746
Periventricular hemorrhagic infarction, 94 Picture schedule, 588f
Periventricular leukomalacia (PVL), 94, 95f, 745 Pitch, 146, 147f, 746
and brain injury, 426f PKU, see Phenylketonuria
case study, 600–601 PL 90-480, see Architectural Barriers Act of 1968
and CP, 425 Plaque, 633–634
Permethrin, 814t Plasmapheresis, 220, 224, 746
Persistent pulmonary hypertension of the newborn, 77–78, 77f, 745 Plasticity, 194, 746
case study, 77 and aging, 235
Pervasive developmental disorder not otherwise specified, 347 and CP, 436
Pervasive developmental disorder (PDD), 298t, 345, 745 and Down syndrome, 308
Pesticides, 41–42, 745 maladaptive, 424
Petrolatum, 811t, 814t, 818t Pneumonia, 77
pH probe, 133, 134f Point mutation, 12, 746
Pharmacological treatment Polar body testing, 57, 58f, 746
and ADHD, 379–385 Polychlorinated biphenyls (PCBs), 38, 41, 746
Pharmacotherapy Polyhydramnios, 75, 746
and psychiatric disorders in developmental disabilities, Polyneuropathy, 218–219
536–537, 540 Polysomnogram, 746
Phenobarbital, 815t and Down syndrome, 313
Phenylketonuria (PKU), 12, 319, 320f, 745, 789–790 and muscle disease, 224
case study, 107–108, 320 Pons, 195, 195f
dietary adjustments for, 110t, 116t Positioning
and environmental factors, 22 and CP, 438
and intellectual disabilities, 327 and feeding difficulties, 135, 136, 137f
and IQ scores, 326–327 Positive end expiratory pressure, 644
mandated newborn screening for, 69t Positive pressure ventilation, 746
newborn screening for, 63–64, 325 case study, 75
and pregnancy, 56, 327 Positive punishment, 580–581, 580f, 746
prevalence of, 14t, 63 Positive reinforcement, 580, 580f, 746
resources for, 829 Positron emission tomography, 207, 208t, 747
symptoms of, 321 and ADHD, 376
treatment of, 67, 326–327, 326t, 327, 328 and epilepsy, 497
Index 863
Postconceptional age, 26 Productive practice, 593

Postconcussive syndrome, 479 Professional–family interaction, 667–668, 667t
Postnatal circulation, 74f Professional societies for people with disabilities, 820–821
Postsecondary education support, 693, 840–841 Programmed cell death, 33
Posttraumatic amnesia, 476 Project Follow Through, 594
Posttraumatic seizures, 477 Prompting procedures, 590, 592
Posttraumatic stress disorder (PTSD), 530–531, 747 Prophylactic treatment, 511
in parents, 662 Prosody, 335, 336t, 747
and psychotherapy, types of, 536t and ASDs, 348–349
Postural reactions, 428, 428f Prospective payment system, 709
Practical skills (domain of adaptive functioning), 295 Prune belly syndrome, 515
Prader-Willi syndrome, 21, 790 Pseudohypertrophy, 220, 220f
and ASDs, 356 Psychiatric disorders
and binge eating, 532 and ADHD, 370
and diet, 110t, 115t and ASDs, 356
and domains of disability, 296t medical causes of symptoms, 535
and psychiatric disorders, 524, 525t and motor impairments, 617
resources for, 830 rates of, 524
Pragmatics, 337, 358–359, 747 resources on, 832–833
Pre-participation examination, 619–621, 620t and self-injurious behavior, 534
Pre-participation Physical Evaluation, Fourth Edition, 620 Psychiatric disorders in developmental disabilities, 523, 526,
Precision teaching, 594 699–700
Precocious puberty, 465, 747 case study, 523–524
Predicting disability, 685–686 diagnosis of, 534–535
Prednisone and educational programs, 535
applications and side effects, 815t rates of, 524
and Duchenne muscular dystrophy, 221 specific associations, 524, 525t
Preference assessments, 583, 747 treatment of, 535–537, 540
Preferential Looking testing, 182 see also specific disorders
Pregnancy Psychiatric testing resources, 822
and amniocentesis, 53–54 Psychoeducational tests, 259, 747
and AEDs, 500 Psychological assessment, 268, 275–276, 277, 747, see also
and meningomyelocele, 465 Neuropsychological assessment
and PKU, 327 Psychological testing
Pregnancy-associated plasma protein A, 50 for intellectual disabilities, 299–301
Preimplantation genetic diagnosis, 57, 58f, 747 vs. psychological assessment, 268
Premature birth, 88–89, 90–91, 91f Psychometric tests, 246, 275–276
and age, 99, 239 Psychosocial Impact of Assistive Devices Scale, 650, 650f
assessment of, 90f Psychosocial issues
and associated impairments, 96–97, 272t, 616–617 and epilepsy, 502
and ADHD, 375 and learning disabilities, 411
and auditory toxicity, 94 and meningomyelocele, 466–467
care for, 98, 99–100 Psychotherapy, 536, 536t, 661, 748
case study, 87–88 Psychotic disorders, 531–532
and CP, 425, 426–427, 427f, 434 PTSD, see Posttraumatic stress disorder
consequences of, 100–101 Public funding for health care, 711
early intervention for, 99–100 Pulse oximeter, 645, 748
and neonatal death, 89–90 Punishment, 580f, 748
and neurodevelopmental outcomes, 93–94, 95f, 99, 100–101 Punishment, use in operant learning, 580–581
and newborn screening, 68 PVL, see Periventricular leukomalacia
and nutrition, 116 Pyloric stenosis, 14t, 748
prevention of, 97–98 Pyramidal pathways, 432
rates of, 89–90
resources for, 822–823
and respiratory problems, 91–93, 92f, 93f Qualitative Reading Inventory
risks of, 87 benchmarks, 569–570
and strabismus, 178 Quality indicators for health care, 714, 714t
survival rates of, 98t Quebec User Evaluation of Satisfaction with Assistive
Prenatal health Technology, 650, 650f
and ADHD, 375 Quetiapine, 816t
and ASDs, 350–351 Quickening, 51, 89, 748
Prenatal screening, 70, 683–684, 747
Prenatal surgery, 454–455
Preschool Radial migration, 30–31
and ASDs, 357, 358 Radiography
coping skills during, 664–665 and Down syndrome management, 314t
and stimulant medication, 383–384 for musculoskeletal and neuromuscular disorders, 217–218
and TBI, 479 Ranitidine, 816t
Preschool Language Scale, 284t, 339t Rapid naming skills, 407
Pressure equalization (PE) tubes, 151f Reading, 408, 413–414, 413t, 414, see also Specific reading
Pressure sores, 464–465 disorder
Preterm birth, see Premature birth Reading disabilities, 232
Primary brain damage, 475 and associated functional domain deficits, 272t
Primary care, 707–708, 707t and ADHD, 373
Primidone, 815t intervention strategies into, 413–414, 413t
Primitive reflexes, 427–428, 428f, 747 see also Specific reading disorder
Principle-based framework of biomedical ethics, 681–682 Real-time ultrasonography, 52, 748
Problem-solving tests, 259 Receptive aphasia, 193, 748
864 Index
Receptive language, 335, 748 Rubinstein-Taybi syndrome, 12, 21, 792

Recreation, see Leisure and recreation Rumination, 532
Recurrence risk
of acute lymphocytic leukemia, 511
of ASDs, 349 Safe Kids organization, 481
of genetic disorders, 67 Salivary flow, 633
of intellectual disabilities, 297 Sarnat Neurological Score, 79, 79t, 749
and seizures, 498 SCD, see Sickle cell disease
of seizures, 489, 500 Schedules, 588–589, 588f
Red reflex test, 176, 748 SCHIP, see Children’s Health Insurance Program
Reelin, 30 Schizophrenia, 750
Reevaluation of disabilities, 563 and associated disabilities, 525t
Reflex responses, fetal, 33–34 diagnosis of, 531–532
Refraction, 170–171, 179f, 180, 748 and psychotherapy, types of, 536t
Reframing, 748 treatment of, 532, 538t, 539t
and family coping skills, 662–663 School
of problem behavior, 278 and assistive technology use, 648–649
Regeneration, 199 and ADHD, 378–379
Regression and cancer treatment, 512
in development, 246, 248 and epilepsy, 502
in Down syndrome, 312 and hearing loss, 164–165
Regurgitation, 633 and HIV, 513
Rehabilitation and inclusion, 665
and muscle disease, 224–225 and learning disabilities, statistics, 417
and psychiatric disorders in developmental disabilities, 535–536 and meningomyelocele, 466
from TBI, 477–479, 480 and neuromuscular and musculoskeletal disorders, 225–226,
vocational, 693 225t
Rehabilitation Act of 1973, Section 504 and neuropsychological disabilities, 279
and ADHD, 379, 562–563 and PE, 613, 618–619
and special education, 562 and reading instruction, 413–414
Rehabilitation framework, 601–602, 606 resources on, 834
Reinforcement therapy in, 603
and behavioral economics, 588 transition to work, 692–694
and generalization training, 594 and TBI, 480
identifying stimuli for, 583 School-to-Work Opportunities Act, 693
positive vs. negative, 580, 580f Scissoring, 424, 432f
use in managing classroom behavior, 590–591, 590f and CP, 431
use in operant learning, 580 surgical intervention for, 442, 443f
Relationship Development Intervention, 358 Scoliosis, 216, 750
Religion, and coping skills, 659 and arthrogryposis, 222
Response cost, 580–581 and meningomyelocele, 461–462, 462f
Representative payeeship, 696 resources for, 831–832
Resonance disorders, 338, 749 treatment of, 444, 445f, 462
Resources for people with disabilities, 819–841 Screening test, 61–62, 750
Respect for autonomy, 682 for ASDs, 353, 354t
Respiratory distress syndrome, see hyaline membrane disease cut-off levels, 62f
Respiratory issues developmental, 550
and Duchenne muscular dystrophy, 221 for developmental delay, 292
and neuromuscular / musculoskeletal disorders, 215 for Down syndrome, 308
Respiratory support, 644–645, 686 for hearing loss, 154, 155–160
Respiratory technology assistance, 644, 749 for intellectual disabilities, 299
Response to intervention (RTI) model, 749 for NTD, 455–456
vs. discrepancy model, 405–406 of newborns, 62–63
evaluation under, 564–565 for visual impairment, 174, 176
and learning disabilities, 405 Second-tier genetic testing, 65–66
Resting hand splint, 438 Second-trimester genetic screening, 51–55
Resuscitation, ethics of, 687–688 Second-trimester maternal serum screening, 51–52
Retina, 170–171, 172f, 180, 749 Second-trimester ultrasonography, 52–53, 750
Retinopathy of prematurity, 177–178, 177f, 749 Secondary brain damage, 475, 476
and low birth weight, 177 Secretin, 360
and premature birth, 87, 97 Seizure control, 502–503
Retrospective payment system, 709 Seizure disorders
Rett syndrome, 19, 258, 792 in children with special health care needs, 706t
Rey Complex Figure Test, 284t and dental care, 639
Rh incompatibility, 91, 749 and intellectual disabilities, 298, 623
Rhabdomyolysis, 224, 749 and meningomyelocele, 461
Ribonucleic acid (RNA), 10, 749 Seizures, 487–491
Ribosomes, 4f, 10, 749 and AEDs, 498–499, 499t
Rickets, 116, 749 and CAM, 501
Right ventricle development, 74 dietary adjustments for, 110t
Risperidone, 386, 537, 816t recurrence risk of, 489, 498, 500
Ritalin, 380t and temporal lobe dysfunction, 193–194
RNA, see ribonucleic acid and TBI, 477
Rosa’s Law, 293 see also Epilepsy; Neonatal seizures
Rosetti Infant-Toddler Language Scale, 339t Selective dorsal rhizotomy, 440f, 442
Routine oppositional behavior, 584 Selective mutism, 529
RTI model, see response to intervention model Selective serotonin reuptake inhibitors, 203, 750
Rubella, 352, 426, 749 and ADHD, 387
Index 865
and ASDs, 359–360 Sleep disorders

combinations with other medications, 388 and ADHD, 374
and psychiatric disorder treatment, 538t and ASD, 355
Selective vulnerability, 750 and epilepsy, 496
and CP, 424–425 and melatonin, 674
and HIE, 425f and meningomyelocele, 458
Selenium sulfide, 816t SMA, see Spinal muscular atrophy
Self-determination, 692 Small for gestational age infants, 88–89, 88f, 750
Self-injurious behavior, 526, 533–534, 750 Smith-Lemli-Opitz syndrome, 110t, 793
and associated conditions, 525t, 528 Smith-Magenis syndrome, 793–794
and automatic reinforcement, 583 case study, 244
and communication problems, 535–536 Smoking exposure, 43
and psychiatric disorders, 534 SNHL, see Sensorineural hearing loss
and social-positive reinforcement, 587 Social anxiety disorder, 529
treatment of, 534, 586–587 Social cognition
Self-regulated strategy development, 415 and associated developmental disabilities, 272t
Semantics, 335, 750 and learning disabilities, 416
Sensorimotor assessment, 466 measurement scales for, 285t
Sensorineural hearing loss (SNHL), 147, 149 and neuropsychological assessment, 274
vs. CHL, 156 and SLDs, 410
degrees of, 158f Social history, 257
and Down syndrome, 309 Social impairments
and environmental factors, 150–151 and ADHD, 374
and hearing aids, 162 and ASDs, 348
rates of, 153 risk in siblings, 663
and TBI, 478 and TBI, 480–481
Sensory impairment, see Hearing impairment; Visual impairment Social-negative reinforcement, 583, 587, 750
Sensory integration therapy, 676, 750 Social-positive reinforcement, 582, 587, 751
Sepsis, neonatal, 77, 82–83, 750 Social Responsiveness Scale, 285t
Serotonin, 204t Social Security Administration
Sertraline, 816t and financial assistance, 695–696
Serum testing Social Security Disability Insurance, 696
for intellectual disabilities, 300t Social skill interventions, 378, 536t
for musculoskeletal and neuromuscular disorders, 217 Social skills
and NTD, 453 and ADHD, 378
Severe combined immunodeficiency, 63 and ASD treatment, 358–359
Severe problem behaviors, 586–587 as domain of adaptive functioning, 295
Sex chromosomes, 5, 750 Social work, 567t
Sex-linked disorders, see X-linked disorders Societal acceptance of disability, 668
Sexual abuse, 465, 699 Societal limitations (domain of disability), 296, 296t
Sexuality Societies for people with disabilities, 820–821
importance of discussing, 699 Socio-cultural skills, and writing problems, 415
and meningomyelocele, 465 Soft tissue complications, 633
Shared decision making approach, 677, 750 Somatic nervous system, 199–200, 751
Shunting Sound, 144–145, 144f, 145–146
and hydrocephalus, 198–199, 458–459 Sound localization behavior, 155
and NTD, 456 Space management, and classroom behavior,589, 589f
and neurological deterioration, 466 Spastic cerebral palsy, 432, 433f, 751
risks of, 459 case study, 600–601
Siblings of children with disabilities, 361, 663–664 Spasticity, 751
resources for, 834–836 of brain, 192
Sickle cell disease (SCD), 13, 508–510 management of, 439–442, 440f
case study, 507–508 and motor recovery, 478
and ethnicity, 49t, 508 Special education, 561–566
treatment for, 517t annual goals of, 568–570
SIDS, see Sudden infant death syndrome and assistive technology use, 648–649
Sign language, 312, 341 and ADHD, 562–563
Silent aspiration, 131 case study, 561
Silent stroke, 508 and CKD, 516
Simultaneous acquisition of language, 337 and early intervention services, 553
Single-gene disorders, 13, 14t, 750 and epilepsy, 502
Single nucleotide polymorphisms, 13, 750 expenditure on, 574
Single photon emission computer tomography, 207, 750 and learning disabilities, 405, 406
advantages and disadvantages, 208t legislative history of, 559, 560f
and ADHD, 376 outcomes of, 574
and epilepsy, 497 placement of students, 568, 569t
Skeletal dysplasia, 222–223 related services, 566, 567t
Skill performance evaluations, 604–605 resources for, 279, 834
Skill sets, 237, 237t teachers of, 570–572, 573t
Skin conditions termination of, 693
and Down syndrome, 311–312 Special needs trust, 696
and meningomyelocele, 464–465 Special Olympics, 618
Skin picking disorder, 531 and CP, 437–438
SLDs, see Specific learning disabilities and Down syndrome, 315
Sleep apnea, 750 Specialized intervention strategies, 607t, 608–609
and Down syndrome, 313 Specialized sports associations and programs, 617, 618
and meningomyelocele, 458 Specific learning disabilities (SLDs), 404–405, 406
and muscle disease, 224 and associated impairments, 409–411
866 Index
Specific learning disabilities (SLDs)—continued Standardized testing, 276, 277–278, 751

definition of, across school districts, 406 Staring episodes, 496
intervention strategies, 412–417 Stature issues, 110–111
and school dropout rate, 411 and meningomyelocele, 465
Specific mathematics disability, 408–409 and undernutrition, 111–112
familial occurrences of, 409 Status epilepticus, 488, 751
interventions in, 415–416 Stenosis, 149, 751
and neurobiology, 409 Stereotypic movement disorder, 533, 752
Specific reading disorder (SRD), 407–408 Steroid therapy
case study, 404 and bronchopulmonary dysplasia, 93
and high school learning, 414–415 and Duchenne muscular dystrophy, 224, 225–226
and intervention strategies, 412, 413t and hyaline membrane disease, 92
and left hemisphere brain systems, 408 and myasthenia gravis, 220
and math disabilities, 416 risks of, 93, 225–226
outcomes of, 417 Stickler syndrome, 175t, 794
Spectrum of developmental disabilities, 248, 751 Stimulant medication, 382–383, 752
Speech and ADHD, 379–384, 380t, 385–388
and blindness, 183–184 and ASDs, 359
components of, 336t benefits of, 379–380
comprehension of in brain, 193 duration of effects, 380t, 381
and deafness, 154–155 and executive function, 379–380
development of, 154, 338 and gastrointestinal problems, 381
function of, 191, 192f, 334–335 glossary of specific medications, 803–818
in neonates, 337 history of use, 379
Speech audiometry, 157 and preschoolers, 383–384
Speech difficulties and psychiatric disorders, 539t, 540
case study, 333–334 side effects, 380, 381–382, 383
Speech disorders, 338 and tic disorders, treatment of, 387
resources for, 826–827 Stimulus control, 580–581, 583, 591, 594
Speech impairment Stomach emptying, delayed, 127
and assistive technology, case study, 642 Strabismus, 174, 178–179, 752
assistive technology for, 647–648 and Down syndrome, 309
and CP, 435 and meningomyelocele, 461
and hope for future, 575t Stress, types of, 660–661
and TBI, 478–479 Stroke
Speech-language development, 337, 338 neonatal, 82, 82f
and cochlear implants, 163 and SCD, 508, 510
and hearing, 159–160 Stuttering, 340
indications for evaluation of, 334t resources for, 827
measures of, 339t Subitization, 409
Speech-language intervention programs, 340–341 Subluxation surgery, 442–443
Speech-language pathologist Substance abuse, 382
evaluation procedure of, 333–334 Substrate deprivation treatment, 326–327, 326t
and special education, case study, 561 Successive acquisition, 337
specific disabilities requiring, 567t Sucking, 124, 136
and speech-language assessment, 338 Suckling, 123–124
Spelling, 415 Sudden cardiac death syndrome, 623
Spermatocytes, 6 Sudden infant death syndrome (SIDS), 95–96, 752
Spermatogenesis, 6, 7 Sudden unexpected death in epilepsy, 503
Spina bifida, 451, 454f, 751 Sugar
case study, 452–453 and ADHD, 674
and injury prevention, 622 and dental health, 633
and orthopedic risks, 461 Supplemental History for the Athlete with Special Needs, 621
and regression, 248 Supplemental Security Income (SSI), 695–696, 712t
and reproductive health, 465 Supplementation, 327
resources for, 831 Supported employment, 694–695, 752
and sexual abuse, 465 case study, 691–692
Spina bifida occulta, 451, 751 see also Employment
Spinal cord, 196–197, 197f, 751 Supported living services, 697
and injury prevention, 622 Surfactant, 76, 752
Spinal curvature, 462f and bronchopulmonary dysplasia, 92
and meningomyelocele, 461–462 and premature birth, 91–92
Spinal decompression procedure, 458 Surgical resection of epileptic focus, 501
Spinal fusion, 445f Swallowing, 122–123, 123f
Spinal muscular atrophy (SMA), 12, 192, 218 and aspiration, 131f
medication for, 224 Synapses, 202–203, 202f, 213, 215, 752
and need for respiratory support, 644 Synaptic communication, 32
resources for, 831, 832 Syntax, 335, 752
Spine curvature, disorders of, 216 Systems of care approach, 554
Splinting, 438
Sports
and concussion, 475 Tandem mass spectroscopy, 64t, 65, 752
equipment use, 624–625 Tangential migration, 31, 752
and injury risk, 621–622, 625 Tartar, 633–634
resources for, 839–840 Tay-Sachs disease, 13–14, 795
specialized associations/programs for, 617, 618 case study, 320–321
SRD, see Specific reading disorder and ethnicity, 49t
Standardized Assessment of Concussion, 476 and eye abnormalities, 175t
Index 867
prevalence of, 14t Transfusion practices, 97

progression of, 322 Transient hypothyroidism, 97
resources for, 829 Transition individualized education program, 570, 753–754
TBI, see Traumatic brain injury Transition planning
Teaching for health care, 698–699
behavioral strategies in, 591–594 and PE, 618–619
by occupational/physical therapists, 603–604 Transition to adulthood, 692
Teamlet model of health care delivery, 713 case study, 691–692
Technology-Related Assistance for Individuals with Disabilities resources for, 840–841
Act of 1988 (Tech Act), 653–654 Translation, 11f, 754
Teeth development, 632 Translocation, 8, 8f, 754
Teeth grinding, 633 Translocation Down syndrome, 308
Telehealth, 662, 753 Transparent modification of computers, 647, 648
Temper dysregulation with dysphoria, 527 Transportation assistance, 567t
Temporal lobe, 193–194, 753 Traumatic brain injury (TBI), 473, 474, 475f, 476–481
Temporal lobe epilepsy, 495 and associated functional domain deficits, 272t
Teratogens, 753 and ADHD, 375
and ASDs, 351 case study, 473–474
Testing of Problem Solving Child and Adolescent, 285t and hearing loss, 152
Tetracycline, 632 and hope for future, 575t
Tetraploidies, 9 and learning disabilities, 411
Thalamocortal connectivity, 31, 195 prevalence of, 474
Thalamus, 195, 431f, 753 primary vs. secondary, 475
Thalidomide resources for, 832
and ASDs, 351 and special education-related services, 567t
effect during pregnancy, 37 Treacher Collins syndrome, 150t, 796
Theophylline, 816t Treatment and Education of Autistic and related
Theory of Mind, 337 Communication Handicapped Children, 357
and ASDs, 348, 350 Triamcinolone, 817t
Therapeutic diets, 113–114 Trichotillomania, 528, 754
Therapeutic recreation programs, 699 Trimethoprim and sulfamethoxazole, 817t
Thickening agents, 137 Trinucleotide repeat expansion disorders, 19–20
Thimerosal, 351–352, 753 Triploidies, 9
Thioridazine, 817t Trisomy 21, see Down syndrome
Thiotixene, 817t Trisomy disorders, 6, 754, 796
Thrombophilia, 82, 753 and eye abnormalities, 175t
Thumb-sucking, 586 and hearing loss, 150t
Thymectomy, 220 prevalence of, 14t
Thyroid hormone, 323, 327 resources for, 830
Thyroid stimulating hormone (TSH) test, 313, 314t ultrasound findings in, 55t
Tiagabine, 817t Trunk support, 128–129, 128f, 137f
Tic disorders TSH, see Thyroid stimulating hormone (TSH) test
and ADHD, 373, 387 Tube feeding, 645–646
and ASD, 355 Tuberous sclerosis, 796–797
and medication, 381, 538t and ASD, 356
Time-out, 580–581, 584, 753 and eye abnormalities, 175t
Title V, 712t resources for, 830
Titration, 536–537 Turner syndrome, 7, 797
Tobacco smoke exposure, 43 and learning disabilities, 407
Todd’s paralysis, 492, 753 and psychiatric disorders, 524, 525t
Toe walking, 431, 432f, 442 Tympanometry, 157, 159, 159f, 754
Toilet training, 584, 585f Tyrosinemia, 326t, 327, 328–329
Token boards/economies, 590–591, 590f
Tolnaftate, 817t
Tonic-clonic seizures, 491 Ultrasound, 33, 34, 50
Tonic labyrinthine response, 428, 429f, 753 and CP, 434
Tooth conditions, see Dental conditions and chromosomal abnormalities, 55t
Tooth decay, 633–636, 634f and NTD, 456
Topiramate, 817t and premature births, 93, 94
Total body cerebral palsy, 433 Umbilical cord development, 74
Tourette syndrome, 795 Undernutrition, 110–112, 754
and ADHD, 373, 387 Unemployment rate, for people with disabilities, 574
and ASD, 355 Universal design, principle of, 646
and learning disabilities, 407–408 Universal intervention strategies, 607–608, 607t
and medication for treatment, 539t Universal screening, 62, 68–69
resources for, 830 Upper motor neuron system, 428, 430f, 431f
Toxic Substances Control Act, 43 dysfunction of, 428–429
Toxicants, 37–44 Urea cycle, 324f
resources on, 822 Urea cycle disorders, 324, 797
see also specific toxicants resources for, 830
Toxoplasmosis gondii, 63, 753 treatment of, 326t, 327
Tracheostomy, 313, 645, 753 Urinary dysfunction
Traditional service frameworks, 604t, 606 and Down syndrome, 311
Traditional services, 601–602 and meningomyelocele, 463–464
Training errors, 621 U.S. National Academy of Sciences (NAS)
Transcranial Doppler, 510, 517t, 753 on mercury exposure, 40
Transcription, 10, 10f, 753 panel on neurobehavioral disorders, 38
Transcription gene mutations, 12–13 on perchlorate exposure, 42
uploaded by [stormrg]
868 Index
U.S. Social Security Act, and disability, 234 Waardenburg syndrome, 150t, 798–799
Usher syndrome, 150t, 798 Walking, see Ambulation
WalkSafe program, 481
Wall-eyed, see Exotropia
Vaccinations Wechsler Abbreviated Scale of Intelligence, 282t
and ASD, 351–352 and CKD, 516
Valproic acid, 818t Wechsler Adult Intelligence Scales, 282t
Varus derotational osteotomy, 443, 444f Wechsler Intelligence Scales for Children, 282t
Vasodilation, 76, 754 and HIV, 513
Velocardiofacial syndrome, 8–9, 766–767 Wechsler Processing Speed Index, 271
comorbidity of, 252 Weight, 108, 614
and psychiatric disorders, 524, 525t inadequate, 132
Venlafaxine, 818t and meningomyelocele, 465
Ventilation, fetal, 74 and nonstimulant medication, 384
Ventral induction, 28–29, 29f, 754 and nutrition assessment, 109t
Ventricular system of brain, 198f and stimulant medication, 381
Ventriculo-subgaleal shunt, 458–459, 754 Wernicke’s area, 192f, 193, 335
Ventriculoperitoneal (VP) shunt, 456, 458, 459f, 466, 754 West syndrome, 492
case study, 452 Wheelchairs
Vesicostomy, 463, 755 and CP, 438
Vestibular system, 144, 755 and injury prevention, 624
Videofluoroscopy, 133 and pressure sores, 464
Vineland Adaptive Behavior Scale-II, 287t types of, 439f
Vision Wide Range Achievement Test 4, 287t
assessment of, 180–182 Wide Range Assessment of Memory and Learning, 285t
and brain function, 194 Williams syndrome, 8, 799
development of, 174, 176 and IQ score, 294
Vision/hearing evaluation, 300t and psychiatric disorders, 525t, 526
Visual cortex disorders, 178 Willowbrook Experiments, 689
Visual evoked potential testing, 182 Wisconsin Card Sorting Test, 284t
Visual field testing, 182 Wisdom teeth, 632
Visual impairment, 171, 172–173, 755 Withdrawal of life support, 687–688
and age of presentation, 253 Woodcock-Johnson-III, 287t
assistive technology for, 186, 647 Work, see Employment
and associated disorders, 176, 178, 181, 186 Work-readiness programs, 695
and brain function, 194 Work-study employment, 694, 755
case study, 169–170 Workforce entry, 694
and CP, 435 Workforce Investment Act, 693
diagnosis of, 174, 176, 180–182, 183–184, 184f World Health Organization (WHO) International Classification
and Down syndrome, 309, 313 of Diseases, 251
early interventions, 184–185 World Health Organization (WHO) International Classification
and education, 185, 567t of Functioning, Disability and Health (ICF), 233, 233t, 602
and genetic therapy, 186
and hope for future, 575t X chromosome, 5
and injury prevention, 623–624 X-linked disorders, 16, 17–19
and intellectual disability, 298t inheritance of, 16t, 18f
and meningomyelocele, 461 X ray
and outcomes, 186 and Down syndrome management, 314t
refractive errors, 179f, 180 for musculoskeletal and neuromuscular disorders, 217–218
resources for, 824–825 XXYY
and socialization, 184 and psychiatric disorders, 524
and TBI, 478
Visual pathway, 172f Y chromosome, 5
Visual-perceptual skills Yoga, 676
and associated developmental disabilities, 272t Young adult coping skills, 666
measurement scales for, 285t Youth Risk Behavior Survey
Visual reinforcement audiometry, 156–157 and physical activity levels, 614–615
Vitamin cofactor, 328
Vitamin use, 674 Zellweger syndrome, 800–801
and ASDs, 360 and developmental disabilities, 323
Vocational rehabilitation, 693 and eye abnormalities, 175t
Volitional motor activity, 428f Zinc deficiency, 388–389
Volunteer work, 695, 755 Zinc oxide, 818t
Vomiting, 132 Ziprasidone, 818t
Vyvanse, 380t Zonisamide, 818t

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DI SAB I L I TI E S / G E N E R A L D I SA B I L I T Y – P ED IAT R IC S

“A gem...clear, concise, and well written. I enthusiastically recommend

9 781598 571943 >

Mark L. Batshaw, M.D.

Nancy J. Roizen, M.D.

Gaetano R. Lotrecchiano, Ed.D., Ph.D.

Baltimore • London • Sydney

Copyright © 2013 by Paul H. Brookes Publishing Co.

“Paul H. Brookes Publishing Co.” is a registered trademark

Typeset by BLPS Content Connections, Chilton, Wisconsin.

Library of Congress Cataloging-in-Publication Data

2016 2015 2014 2013

10 9 8 7 6 5 4 3 2

How Can Screening Fail?

II The Developing Child

III Developmental Disabilities

Medical Diagnostic Testing

23 Specific Learning Disabilities

28 The New Face of Developmental Disabilities

IV Interventions, Families, and Outcomes

Intervention Frameworks Used by Physical and Occupational Therapists

Institutional Ethics Committees

Marilyn Cataldo, M.A.

Elissa Batshaw Clair, Ed.S., M.Ed. Patrick C. Friman, Ph.D., ABPP

James Gleason, PT, M.S. Peter B. Kang, M.D.

Rebecca M. Haesler, M.S., RD, LD

Susan L. Hyman, M.D. Susan E. Levy, M.D.

SungWoo Kahng, Ph.D. M.E.B. Lewis, Ed.D.

Michelle Huckaby Lewis, M.D., J.D. Jerome A. Paulson, M.D.

Gregory S. Liptak, M.D., M.P.H. Joan E. Pellegrino, M.D.

Toby M. Long, Ph.D. Louis Pellegrino, M.D.

Scott C. Schultz, M.D. Sheela L. Stuart, Ph.D., CCC-SLP

Bruce K. Shapiro, M.D.

Patience H. White, M.D., M.A. Tesfaye Getaneh Zelleke, M.D.

Michaela L. Zajicek-Farber, M.S.W., Ph.D.

I remember when I almost failed first grade because I couldn’t read. I

Upon completion of this chapter, the reader will

discussion is to focus on the abnormalities that GENETIC DISORDERS

CELL DIVISION AND ITS DISORDERS

chromosome 21 end up in one cell. Instead of conceptions appear to be miscarried (Morgan,

but not in skin cells; or the individual may Deletions

Mutations disrupting the subsequent steps, that mistake

Table 1.1. Prevalence of genetic disorders

births (McKusick-Nathans Institute of Genetic Chapter 19). Autosomal recessive disorders

individuals with a new mutation will risk pass-

Although most X-linked disorders are reces-

within the fragile X mental retardation protein

Rubinstein-Taybi syndrome is an example 2008). Other examples of imprinted neuroge-

Upon completion of this chapter the reader will

directly or through epigenetic mechanisms (see STRUCTURAL

neuronal migration, and myelination; and formation result in congenital malformations

and glial (white matter) cell populations of Neuronal Migration

dorsal subplate zone

ventricle subventricular zone

external granular layer secondary neuroepithelium

internal granular layer

cells migrating to form

both spontaneous and experience-driven activ- is particularly vulnerable to injury, such as

Upon completion of this chapter, the reader will be able to

2000; Gilbert, 2008; Grandjean et al., 2008; SCOPE OF THE ISSUE