Laura M. Sterni, John L. Carroll - Caring For The Ventilator Dependent Child - A Clinical Guide (2016)

Respiratory Medicine
Series Editor: Sharon I.S. Rounds
Laura M. Sterni
John L. Carroll Editors
Caring for the

Ventilator
Dependent
Child
A Clinical Guide
Series Editor:
Sharon I.S. Rounds
More information about this series at http://www.springer.com/series/7665

Laura M. Sterni • John L. Carroll
Editors
Caring for the Ventilator

Dependent Child
A Clinical Guide
Editors
Laura M. Sterni, MD John L. Carroll, MD
Eudowood Division of Pediatric Division of Pediatric Pulmonary
Respiratory Sciences and Sleep Medicine
The Johns Hopkins University University of Arkansas for Medical
School of Medicine Sciences
Baltimore, MD, USA Little Rock, AR, USA
ISSN 2197-7372 ISSN 2197-7380 (electronic)

ISBN 978-1-4939-3747-9 ISBN 978-1-4939-3749-3 (eBook)
DOI 10.1007/978-1-4939-3749-3
Library of Congress Control Number: 2016943202
© Springer Science+Business Media New York 2016

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This book is dedicated to the patients
who require chronic home ventilator support
and the families and professionals who care
for them. We are inspired by your resilience,
creativity, and dedication.
And to our families:
To my husband Hank and sons Colin
and Mark, with gratitude and love. (LS)
To my wife Tiziana and children, Maggie,
Molly, and Maddy, with love
and appreciation. (JC)
Preface
Children with chronic respiratory failure are living longer, healthier lives than ever
before due to advances in medical care, respiratory-related technologies, and respi-
ratory equipment for home use. Over the last several decades, emphasis on the
importance of family and community in the care of children with special healthcare
needs has resulted in a major shift from institutional/residential care settings to
long-term care in the home. Very few children with chronic medical conditions and
special healthcare needs are more complex and challenging than children with
chronic respiratory failure, who often are dependent for life support on mechanical
ventilation. The precise number is unknown, but it has been estimated that thou-
sands of children receive home mechanical ventilation in the United States and the
prevalence of home mechanical ventilation for children is likely to be similar in
Europe and elsewhere [1].
Children with disorders leading to respiratory insufficiency can be supported in
the home with invasive or noninvasive ventilator support. These children often have
multiple medical problems, they are supported by complex equipment, and their
high risk of complications demands the constant attention of caregivers. Families
are faced with a herculean task, made more challenging by the lack of care coordi-
nation, lack of expert practice guidelines, and wide variations in practice. At the
time of this writing (2016), there are no evidence-based guidelines for the care of
children on home mechanical ventilation, and overall the quality of evidence pro-
vided by the scant research literature in this area is poor. In addition to a lack of
research-derived guidelines for this population, there is also no comprehensive
information resource covering all relevant aspects of pediatric home ventilator
management.
The goal of this book is to provide, based on literature review and the extensive
experience of the expert authors, a single volume with chapters covering all major
aspects of caring for children on home mechanical ventilation. In a very real sense,
this book is intended to fill a gap until research is sufficient to provide high-quality,
evidence-based practice guidelines. Unfortunately, given the profound lack of high-
grade research studies in this area, it clearly will be many years and perhaps more
than a decade before evidence-based guidelines are even possible. In the meantime,
vii
viii Preface
we hope this volume will be a worthwhile resource for the diverse groups of practi-
tioners who care for these children, including nurses, respiratory therapists, dis-
charge planners, social workers, physicians, and others. It is intended to be useful,
not only for pediatric pulmonologists but also for pediatric intensivists, cardiolo-
gists, physical medicine/rehabilitation specialists, and the primary care physicians
involved in the complexities of managing care for this unique group of special needs
children.
Baltimore, MD, USA Laura M. Sterni
Little Rock, AR, USA John L. Carroll
1. King AC. Long-term home mechanical ventilation in the United States. Respir Care.
2012;57:921–930; discussion 930–922.
Acknowledgments
We thank the outstanding authors who contributed to this book. The authors invited
to participate were chosen due to their positions as academic leaders in this field and
their extensive experience in the management of children on home mechanical ven-
tilation. We are grateful for their scholarship, commitment, and expertise.
ix
Contents
1 Chronic Ventilator Support in Children: Why, Who, and When ....... 1

Ian MacLusky
2 Non-Invasive Mechanical Ventilation in Children: An Overview ...... 19
Brian McGinley
3 Chronic Invasive Mechanical Ventilation ............................................. 37
Howard B. Panitch
4 Ethical Considerations in Chronic Invasive Mechanical
Ventilation in Pediatrics ......................................................................... 57
Walter M. Robinson
5 Palliative Care and End-of-Life Considerations in Children
on Chronic Ventilation ............................................................................ 71
Jeffrey D. Edwards
6 Transition from Hospital to Home ........................................................ 89
Sherry L. Barnhart and April Carpenter
7 The Model of Care for the Ventilator-Dependent Child...................... 121
Dennis Z. Kuo and John L. Carroll
8 Outpatient Care of the Ventilator Dependent Child ............................ 145
Nanci Yuan and Laura M. Sterni
9 In-Home Care of the Child on Chronic Mechanical Ventilation ........ 165
Deborah S. Boroughs and Joan Dougherty
10 Troubleshooting Common Ventilator and Related Equipment
Issues in the Home .................................................................................. 185
Denise Willis and Sherry L. Barnhart
xi
xii Contents
11 Inhaled Drug Delivery for Children on Long-term

Mechanical Ventilation ........................................................................... 217
Ariel Berlinski
12 Adherence to Non-Invasive Ventilatory Support ................................. 241
Gillian M. Nixon
13 Ventilator Support in Children with Obstructive Sleep
Apnea Syndrome ..................................................................................... 253
Kiran Nandalike and Raanan Arens
14 Ventilator Support in Children with Neuromuscular Disorders ........ 283
Anita K. Simonds
15 Long-Term Ventilator Support in Bronchopulmonary Dysplasia ...... 299
Sharon A. McGrath-Morrow and J. Michael Collaco
16 Chronic Ventilatory Support for Children Following Trauma
or Severe Neurologic Injury ................................................................... 311
Iris A. Perez, Sally L. Davidson Ward, Sheila Kun,
and Thomas G. Keens
17 Care of the Child with Congenital Central
Hypoventilation Syndrome..................................................................... 331
Fiona Healy and Carole L. Marcus
Index ................................................................................................................. 355

Contributors
Raanan Arens, MD Division of Pediatric Respiratory and Sleep Medicine, The

Children’s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx,
NY, USA
Sherry L. Barnhart, RRT-NPS, FAARC Respiratory Care Discharge Planner,
Respiratory Care Services, Arkansas Children’s Hospital, Little Rock, AR, USA
Ariel Berlinski, MD College of Medicine, Arkansas Children’s Hospital,
University of Arkansas for Medical Sciences, Little Rock, AR, USA
Deborah S. Boroughs, RN, MSN Bayada Home Health Care, Pediatric Specialty
Practice, Logan Township, NJ, USA
April Carpenter, APRN Arkansas Children’s Hospital, University of Arkansas for
Medical Sciences, Little Rock, AR, USA
John L. Carroll, MD Division of Pediatric Pulmonary and Sleep Medicine,
University of Arkansas for Medical Sciences, Little Rock, AR, USA
J. Michael Collaco, MD, MPH Eudowood Division of Pediatric Respiratory
Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Joan Dougherty, BSN, CPN, CSN Pennsylvania Ventilator Assisted Children’s
Home Program (VACHP), Philadelphia, PA, USA
Jeffrey D. Edwards, MD, MA, MAS Division of Pediatric Critical Care Medicine,
Columbia University College of Physicians and Surgeons, New York, NY, USA
Fiona Healy, MBBCh Department of Respiratory Medicine, Children’s University
Hospital, Dublin, Ireland
Thomas G. Keens, MD Division of Pediatric Pulmonology and Sleep Medicine,
Children’s Hospital Los Angeles, Keck School of Medicine of the University of
Southern California, Los Angeles, CA, USA
xiii
xiv Contributors
Sheila Kun, RN, MS Division of Pediatric Pulmonology and Sleep Medicine,

Dennis Z. Kuo, MD, MHS Center for Applied Research and Evaluation, Arkansas
Children’s Hospital, Little Rock, AR, USA
Ian MacLusky Children’s Hospital of Eastern Ontario, University of Ottawa,
Ottawa, ON, Canada
Carole L. Marcus, MBBCh Sleep Center, Children’s Hospital of Philadelphia,
University of Pennsylvania, Philadelphia, PA, USA
Brian McGinley, MD Pediatric Pulmonary and Sleep Medicine, University of Utah,
Salt Lake City, UT, USA
Sharon A. McGrath-Morrow, MD, MBA Eudowood Division of Pediatric
Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore,
MD, USA
Kiran Nandalike, MD Division of Pediatric Respiratory and Sleep Medicine, The
Children’s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA
Gillian M. Nixon The Ritchie Centre, Department of Paediatrics and The Hudson
Institute of Medical Research, Monash University, Melbourne, VIC, Australia
Melbourne Children’s Sleep Centre, Monash Children’s Hospital, Melbourne, VIC,
Australia
Howard B. Panitch, MD Division of Pulmonary Medicine, Technology
Dependence Center, The Children’s Hospital of Philadelphia, University of
Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Iris A. Perez, MD Division of Pediatric Pulmonology and Sleep Medicine,
Walter M. Robinson, MD, MPH Vanderbilt University School of Medicine,
Nashville, TN, USA
Anita K. Simonds, MD FRCP NIHR Respiratory Biomedical Research Unit,
Royal Brompton & Harefield NHS Foundation Trust, London, UK
Laura M. Sterni, MD Eudowood Division of Pediatric Respiratory Sciences, The
Johns Hopkins University School of Medicine, Baltimore, MD, USA
Sally L. Davidson Ward, MD Division of Pediatric Pulmonology and Sleep
Medicine, Children’s Hospital Los Angeles, Keck School of Medicine of the
University of Southern California, Los Angeles, CA, USA
Denise Willis, BS, RRT-NPS Respiratory Care Services, Pulmonary Medicine
Section, Arkansas Children’s Hospital, Little Rock, AR, USA
Nanci Yuan, MD Stanford Children’s Health Sleep Center, Palo Alto, CA, USA
Chapter 1
Chronic Ventilator Support in Children:
Why, Who, and When
Ian MacLusky
Introduction
Until around 25 years ago, there were limited options for long-term ventilation of
children, requiring either cumbersome equipment (“iron lung”) or invasive ventila-
tion (via a tracheostomy). Consequently the majority of children on long-term ven-
tilation were cared for either in general hospitals or specific long-term ventilation
facilities. With improving technology, particularly in the delivery of noninvasive
ventilation [2], there has been a marked increase in the number of children being
placed on long-term ventilation [2–5], to the point that it is currently regarded as a
standard of care for children with conditions that were previously thought to be
inevitably fatal, the majority of whom are now cared for in their home. Despite its
widespread use, however, there remains very little comparative literature on the
optimal indications and patient selection process, optimal timing, or most effective
process for initiation of chronic ventilation in children. Moreover most of the avail-
able evidence is either from adult populations or mixed populations of adults and
children with, unfortunately, a paucity of pediatric specific data. This is reflected by
the marked variability in frequency, types of patients, and differing modes of venti-
lation reported between different centers [1, 6, 7], with ongoing evolution in the
conditions deemed appropriate for long-term ventilation [3, 6, 8, 9].
Most long-term ventilation programs have developed their own criteria and pro-
tocols for the initiation of long-term ventilation, based largely on logic and empiric
experience. Although these protocols are generally similar, being based on similar
experience and therapeutic goals, there is still a lack of agreement as to precisely
I. MacLusky (*)
Children’s Hospital of Eastern Ontario, University of Ottawa,
401 Smyth Rd, Ottawa, ON, Canada, K1H 8L1
e-mail: imaclusky@cheo.on.ca
© Springer Science+Business Media New York 2016 1

L.M. Sterni, J.L. Carroll (eds.), Caring for the Ventilator Dependent Child,
Respiratory Medicine, DOI 10.1007/978-1-4939-3749-3_1
2 I. MacLusky
who would benefit from long-term home ventilation, or exactly when in the child’s
disease process it should be initiated [1]. Ideally we would have clear evidence to
guide us in our approach to initiation of home ventilation. What literature there is,
however, generally describes which individuals were placed on long-term ventila-
tion, how ventilation was initiated, and some outcome data, the majority of this data,
as noted, covering populations of all ages. Given that children placed on long-term
ventilation, by definition, are commonly facing life-limiting illnesses and that car-
ing for these children has a major impact on family functioning and family finances,
the relative absence of objective data providing support for these protocols is a sig-
nificant deficit of our knowledge.
In order to address which children require chronic ventilator support, it is easiest
to first consider the “why,” the rationale for placing a child on long-term ventilator
support.
Why?
When considering the indications for initiating chronic ventilation, the mode of
ventilation required or available has a significant impact on the decision-making
process. Simplistically there are two options for delivering chronic ventilation:
1. Noninvasive positive pressure ventilation (NIPPV) by an oral or nasal interface
such as a mask, or negative pressure ventilation such as with a cuirass (though
this commonly also requires a tracheotomy).
2. Invasive positive pressure ventilation by a tracheotomy.
Phrenic nerve pacing is a third option for selected patients. It is usually
regarded as invasive in that it requires surgical implantation, with many children
continuing to require tracheostomy post insertion.
As will be discussed in Chap. 2 and Chap. 3, these different methodologies have
their particular advantages and disadvantages. Compared to invasive ventilation,
noninvasive ventilation is, however, more readily discontinued in that it simply
requires placement of an interface, such as nasal or full face mask. It is therefore
amenable to use as a “therapeutic trial,” since it can be easily discontinued if found
to be ineffective, poorly tolerated, or actually detrimental to the child’s respiratory
status or quality of life. In a neurologically intact child, with milder degrees of
hypoventilation such that ventilatory support is not required for survival, even rela-
tively young children can therefore themselves decide when or whether to use the
device. Invasive ventilation, in contrast, not only requires surgical intervention but
also, due to the increased complexity of the equipment and the level of care required,
necessitates a significantly greater family commitment, both in terms of increased
risks associated with initiation and greater caregiver time and education to allow for
safe care of the child at home. At the more severe end of the clinical spectrum, how-
ever, where patients are dependent on ventilatory support for survival, both patients
1 Chronic Ventilator Support in Children: Why, Who, and When 3
and family need to understand the rationale for assisted ventilation, whether invasive
or noninvasive, and the important role it plays in the care plan of the child.
A variety of reasons exist for initiation of long-term ventilation in children:
1. Prolongation of life. A child with end-stage respiratory failure, as evidenced by
persisting daytime hypercapnia, has limited life expectancy. This is therefore the
simplest scenario in terms of justification and decision making, since, in the
absence of a definitive treatment, long-term ventilation is the only option for
continued survival (though assisted ventilation can be a component of palliative
care, below). Ideally the patient (where appropriate) and their family will have
had sufficient time and education to make an informed decision, in agreement
with the child’s medical team, as to whether initiation of chronic ventilation is an
appropriate therapy for their child (Chap. 4). For example, parents of a neonate
with profound hypoventilation as the presenting indicator of congenital central
hypoventilation syndrome have little option other than invasive ventilation for
their child’s survival. In contrast, parents of a child with progressive neuromotor
disease, such as spinal muscle atrophy, will hopefully have had sufficient time
and counseling to decide in advance the appropriate therapeutic plan in order to
delay or ameliorate the onset of overt hypoventilation.
2. Increased life expectancy. It is an oxymoron that a child in end-stage respiratory
failure needs assisted ventilation to maintain life. There is good evidence, how-
ever, that initiating long-term ventilation earlier in the disease course can signifi-
cantly improve life expectancy in selected populations. Perhaps the best evidence
is in patients with progressive neuromotor disease. For example, with initiation
of noninvasive ventilation, there has been almost a doubling in life expectancy of
patients with Duchenne muscular dystrophy [10]. Although this is not random-
ized controlled data, the improvement in life expectancy is so striking, and
reported by multiple centers [11–13], to believe that it is a consequence of the
initiation of ventilation.
3. Improvement in quality of life. One common concern, and a reason for not
initiating ventilation in patients with terminal illness, was the concern that this was
merely “prolonging their suffering.” It has, however, been realized that, although
many patients perceive themselves as asymptomatic [14], not only does the
resulting hypercapnia and hypoxemia produce significant symptoms in their own
right, but the associated sleep fragmentation also causes significant symptoms,
such as morning headaches, daytime somnolence, and generalized fatigue.
Correcting these sequelae by initiating nocturnal ventilatory support, even if this
were not to increase longevity, can result in significant improvements in quality of
life and is sufficient to warrant its use in selected patients. Moreover it has been
realized that individuals with progressive disease adapt to their medical condition,
which becomes their “normal,” for example, individuals with neuromotor disease.
(a) Perceive their quality of life as being significantly better than either their
parents or their medical team [15, 16].
4 I. MacLusky
(b) May actually see their ventilator in a positive light since, by improving their
ventilation, they feel better and consequently perceive a resulting improved
quality of life [17].
4. Treatment of hypoventilation.
(a) Nocturnal. Most children with progressive respiratory impairment will
develop episodes of nocturnal hypoventilation years before they progress to
daytime hypoventilation. Rapid eye movement sleep (REM) is classically
associated with loss of skeletal muscle tone and hence loss of accessory mus-
cles of respiration (though diaphragmatic function is preserved), whereas
slow wave sleep (SWS or stage 3) is associated with loss of respiratory stimu-
lation from the frontal cortex and hence relative loss of respiratory drive [18].
Consequently hypoventilation in diseases associated with loss of neuromotor
function or respiratory muscle fatigue (end-stage pulmonary disease or distur-
bance of thoracic cage function) is typically worse during REM sleep, whereas
patients with disorders of respiratory drive show worse sleep-disordered
breathing in SWS. Although there may be a reduction in respect to respiratory
function, the arousal response is commonly relatively well preserved and the
sleep-related hypoventilation frequently triggers an arousal. This can happen
repeatedly through the night, resulting in significant sleep fragmentation.
Since, however, its onset is frequently insidious, many patients remain rela-
tively asymptomatic [19, 20]. It is only with correction of the sleep-related
hypoventilation that the patients may become aware of the severity of the
symptoms arising secondary to their nocturnal hypoventilation and separate
them from the symptoms associated with their underlying disease [21].
(b) Diurnal. As discussed above, once children with progressive disease become
hypercapnic even while awake, they generally have a very limited life
expectancy, with assisted ventilation (in the absence of any curative lesion)
being their only hope for prolonged survival.
5. Improvement in clinical status.
(a) Lung clearance/cough. Efficient clearance of endobronchial matter requires
an effective cough. Both progressive pulmonary and neuromotor diseases in
particular are associated with reduced respiratory motor function resulting in
reduced inspiratory (for generation of elastic recoil) and expiratory effort
and hence reduced ability to generate a forceful expiration [22]. This
adversely affects cough generation, with increasing risk of mucous plugging
and opportunistic infections [22, 23]. A variety of techniques are therefore
routinely employed to increase lung volumes [23]. Even in normal individu-
als, sleep suppresses cough [24], with the loss of skeletal muscle tone seen
in REM sleep likely compounding the already elevated risk of mucous plug-
ging and opportunistic infections. There is evidence to suggest that assisted
nocturnal ventilation may reduce this risk [25, 26], presumably by increas-
ing respiratory volume, as well as respiratory muscle rest [22], and hence
improved cough effectiveness during sleep.
(b) Progressive loss of lung volume. In patients with progressive neuromotor

disease, there is typically an associated, progressive restrictive defect, with
progressive loss of lung volumes (see below). This is frequently due to
associated reductions in tidal volume [27]. This appears to be ameliorated
by the regular use of devices that induce maximal insufflation capacity
(lung volume recruitment, or LVR) [27]. Whether a similar benefit can be
obtained by using assisted ventilation to maintain lung volumes during
sleep remains speculative in neuromotor disease, though this has been
found in obesity hypoventilation syndrome [28].
6. Cost efficiency. Whatever healthcare system funding may be in place, caring for
a child on chronic ventilation in an acute healthcare setting, such as a hospital,
remains an extremely expensive treatment option. Although dependent upon a
number of factors, most importantly being the level of externally funded supports
provided in the community [1, 29], in general caring for a ventilator-dependent
child at home versus in a long-term healthcare institution results in a significant
cost saving to the healthcare system [30]. Discharging a patient home on chronic
ventilation, however, although saving the healthcare system, transfers the costs
of their care onto the family [1, 31]. There is marked variability worldwide in
respect to the community resources provided to assist families in caring for these
children. In even the most well-resourced healthcare system, however, a large
proportion of the cost of these children’s care within the home, not merely finan-
cial but also in terms of time and emotional investment, is borne by the family,
especially the mothers [32]. At the same time, most parents, if given the option,
would care for their child at home, with the necessity of ventilation usually
adding little, if any, to the caregiver stress already created by the child’s primary
illness [33].
7. “Prophylaxis.” Particularly in respect to noninvasive ventilation, which can be
readily discontinued (above), it is attractive to believe that chronic ventilation
might, if used early, be of value in ameliorating or at least delaying the progres-
sion of at least the respiratory component of a patient’s disease. There is, how-
ever, unfortunately little data to support this hypothesis. In a 1994 study by
Raphael et al. [34], a group of adolescents with Duchenne muscular dystrophy
and forced vital capacities between 20 and 50 % of predicted but without daytime
hypercapnia were randomly assigned to receive either “conventional treatment”
or conventional treatment plus intermittent nocturnal noninvasive positive
pressure ventilation (NIPPV) by nasal mask. The aim of the study was to prevent
the progressive pulmonary restriction typically seen in these patients and therefore
prolong survival. The authors, however, terminated this study early since NIPPV
appeared to confirm no advantage on deterioration in pulmonary function, but
paradoxically was associated with a fourfold higher death rate in the treatment
population (eight patients versus two patients). In comparison, however, in a sub-
sequent controlled study, 26 patients were randomized to receive either NIPPV or
standard care without respiratory support [35]. Patients with NIPPV had improve-
ments in nocturnal gas exchange and appeared to reduce the risk of acute deterio-
rations with daytime hypercapnia.
6 I. MacLusky
8. Parental and family wishes. Obviously in the ideal situation, there will be com-
plete agreement between the parents, the child’s medical team, and (where
appropriate) the child themselves as to the necessity and appropriateness of ini-
tiation of long-term ventilation. Unfortunately this is frequently not the case,
with relatively few families given adequate anticipatory information [36].
Despite our best efforts, and even with appropriate guidance, there inevitably
will still be the (hopefully rare) situation where, even though the child’s physi-
cians may feel this is not in the child’s best interests, the parents insist on initiat-
ing or continuing ventilation (usually, in this case, invasive). Generally, however
the medical team may feel, the general rule in most Western healthcare systems
is that the final decision rests with the family and (if able) the child (Chap. 4).
9. Temporizing device. Placing a child on chronic ventilation generally presupposes
that the child is suffering from a chronic respiratory disease for which ongoing
respiratory support is necessary. There are situations, however, where ventilator
support (primarily noninvasive) might be used as a “temporizing” device.
(a) Respiratory support. Ventilatory support in the home can be used until defin-
itive treatment (such as lung transplantation for patients with end-stage pul-
monary disease), or spontaneous recovery (such as phrenic neuropraxia or
axonotmesis following cardiac surgery) can occur.
(b) Palliative care. In patients in end-stage respiratory failure, for whatever
cause, short-term ventilation is an option to be used as a temporizing device
to allow the child to be discharged home, allowing (if that is the parents’
wishes) to be cared for and die at home rather than in hospital. An example
would be extubation to noninvasive ventilation (even if required 24 h/day) to
allow for discharge home where the family’s wishes are for the child to
spend their remaining time at home (Chap. 5).
Who?
Once the rationale for chronic ventilation is accepted, consideration of which

patients are most likely to benefit from chronic ventilation then follows. It should be
noted, however, that there is actually no consensus on how much of a role the above
factors should play in deciding precisely which child should be offered long-term
ventilation. Consequently there is marked variability in both modes of ventilation
employed and types of patients offered long-term ventilation, as well as in the
criteria to use to determine exactly when chronic ventilation should be initiated. In
simple terms children requiring long-term ventilation generally fall into five broad
disease categories.
The most common cause of chronic hypoventilation is respiratory muscle failure,
due either to a primary disorder of respiratory muscle or neuromotor function or
failure of normal respiratory muscles in the presence of excess load due to primary
pulmonary or thoracic cage disorders.
1. Progressive neuromotor disease (Chap. 14). These disorders are characterized by

progressive loss of skeletal muscle function. With involvement of thoracic cage
and respiratory motor function, these patients inevitably develop a variety of
respiratory sequelae.
(a) Progressive pulmonary restrictive defect. This commonly arises in associa-
tion with disturbances in thoracic cage and spinal anatomy (scoliosis), as
well as the decreased range of motion of the chest wall, resulting in pro-
gressive deterioration in respiratory system compliance and loss of lung
volumes [27].
(b) Increasing risk of opportunistic infections. Due to decrements in respiratory
muscle strength, as well as reduced ability to achieve maximal inspiration,
these patients have deterioration in cough effectiveness, and hence reduced
ability to clear retained secretions, associated with increasing risks of oppor-
tunistic infections [23].
(c) Increasing hypoventilation. Patients with respiratory muscle weakness, par-
ticularly if involving diaphragmatic function, may be able to “compensate”
(at least initially) by use of accessory muscles of respiration. They may,
however, show hypoventilation specifically in REM sleep, due to the relative
loss of skeletal motor activity associated with REM-related alpha premotor
neuron inhibition. Infants are particularly at risk, due to both the fact that,
due to their increased thoracic cage compliance [37], they are more depen-
dent upon diaphragmatic function for normal respiration, but also due to the
significantly greater quantity of REM sleep required by infants [38].
These disorders can be divided into two groups, based on their primary
pathophysiology.
• Diseases primarily affecting respiratory motor neuron function, either specifi-
cally to respiratory motor neurons, such as due to phrenic nerve damage from
surgery or trauma, or as part of a more generalized disorder of spinal motor
neurons, such as spinal muscle atrophy (SMA). SMA is characterized by
progressive skeletal muscle weakness consequent to atrophy of spinal alpha
motor neurons [39]. It is divided into four categories, based on age of presen-
tation and rapidity of progression, with type 1 having the worst prognosis
(death occurring usually, without respiratory support, in the first 2 years of
life). In the more severe types, hypoventilation is to be expected, with initiation
of respiratory support (primarily noninvasive) resulting in significant improve-
ments in life expectancy [40]. Specifically for type 1 patients, since invasive
ventilation does not appear to add to life expectancy (compared to noninva-
sive) while contributing to the loss of ability to communicate [41], invasive
ventilation is generally considered inappropriate as a therapeutic option for
this patient population [42, 43].
• Diseases primarily affecting respiratory muscle function, such as the muscu-
lar dystrophies, with Duchenne muscular dystrophy (DMD) comprising the
largest population [44].
8 I. MacLusky
2. Severe respiratory disease. Compared to adults (e.g., COPD), there are relatively
few clinical scenarios where a child can be expected to have chronic, stable
hypercapnia secondary to a primary pulmonary disease.
(a) Cystic fibrosis. Noninvasive ventilation has not been shown to increase the
life expectancy of patients with cystic fibrosis, while invasive ventilation
(due to the adverse consequences of tracheostomy on the ability to cough
and clear secretions) is rarely employed. There is some evidence, admittedly
in small numbers, that noninvasive ventilation may help in terms of airway
clearance, as well as nocturnal gas exchange and quality of life [45], in
patients with severe pulmonary disease [2, 46]. It has also been employed for
patients with end-stage cystic fibrosis awaiting lung transplant and has been
successful in maintaining reasonably good health until a donor organ
becomes available [47]. Given its limited success in patients with cystic
fibrosis, invasive ventilation is rarely employed [48].
(b) Bronchopulmonary dysplasia (BPD). Consequent to the appreciation of the
role oxygen and ventilation play in the generation of BPD in general, efforts
are now made to limit as much as possible the initiation or maintenance of
ventilator support in children born prematurely [49]. Despite these efforts,
there remains a small population, however, with chronic, severe lung disease
that requires ongoing ventilation for survival. For example, 7 % of children
in the Massachusetts population of home-ventilated children had chronic
lung disease due to prematurity [4] (Chap. 15).
3. Static or progressive disease affecting thoracic cage.
(a) Scoliosis. Scoliosis is probably the most common skeletal deformity result-
ing in respiratory impairment. The lateral curvature of the spine in scoliosis
results in compression of the ribs, and thereby the lung, on the concave side,
with spreading of the ribs on the convex side, resulting in overstretched mus-
cles, with reduced respiratory muscle efficiency and thoracic cage compli-
ance [50]. The impact of scoliosis on respiratory function is directly affected
by both the severity of the scoliosis and whether it is idiopathic, with other-
wise normal respiratory muscle function, or developing in the context of a
progressive neuromotor disorder, such as DMD [51, 52]. Both the reduced
thoracic cage compliance and (if starting early enough in lung development)
the associated reduction in lung growth increase the work of breathing, in
severe cases sufficient to overload the respiratory muscles, resulting in
hypoventilation (initially during REM sleep, but, if severe enough, eventu-
ally resulting in daytime hypoventilation). Treatment is primarily surgical,
mainly to prevent progression since it rarely is associated with subsequent
improvement in lung function [50]. In more severe cases, particularly
patients with associated neuromotor disease, ongoing ventilatory support
may be required [50].
(b) Primary chest wall disorders. This comprises a diverse, and generally rare,
group of disorders [50], which can include:
• Restrictive defects, such as asphyxiating thoracic dystrophy (Jeune’s syn-

drome) [53]
• Disorders of loss of intrinsic rigidity of the chest wall, such as in trau-
matic flail chest [50], or following thoracoplasty, historically used for
treatment of advanced tuberculosis [50], now rarely employed, and more
likely for resection of chest wall malignancies [54]
4. Excess loading of the respiratory system (obstructive sleep apnea, obesity
hypoventilation).
(a) Obstructive sleep apnea (OSA). OSA typically causes nocturnal desatura-
tions associated with significant sleep fragmentation, though usually, except
in the more severe cases, without significant or persisting hypoventilation
[55]. In more severe cases, or if associated with other disorders (such as
Duchenne muscular dystrophy or morbid obesity), the resulting disturbance
in respiratory drive may be sufficient to require initiation of ventilatory sup-
port (Chap. 13).
(b) Obesity hypoventilation. With the increasing incidence of obesity (even in
children) reported in most societies, there is an increasing incidence of
obesity hypoventilation syndrome [56]. Obesity hypoventilation arises as a
consequence of a combination of impaired mechanics due to excess respira-
tory muscle loading and impaired compensatory mechanisms associated
with sleep-disordered breathing (many patients also having at least elements
of obstructive sleep apnea) [56]. Consequently with increasing obesity,
these patients initially develop sleep-related hypoventilation. If respiratory
drive is preserved while awake, these patients will be able to maintain
daytime normocapnia, explaining why many morbidly obese patients maintain
adequate daytime ventilation. A subgroup will, however, develop blunted
respiratory drive and consequently daytime hypoventilation. This may be due
to individual susceptibility [57], but can occur as a primary hypothalamic
disorder, with both hyperphagia and intrinsic blunting of respiratory drive
(below) [58].
5. Disorders affecting respiratory drive (central hypoventilation syndromes).
Respiratory control can be divided into voluntary (cerebral cortex) and involun-
tary (brainstem). Normal respiration is dependent upon a complex integration of
a rhythmic pattern of respiratory motor activity, generated by the central pattern
generator (CPG) within the pons and medulla, with ongoing adaptation to affer-
ent information from the peripheral arterial chemoreceptors (carotid and aortic
bodies), central chemoreceptors (brainstem), intrapulmonary receptors, and
respiratory muscle mechanoreceptors [59]. The CPG is comprised of a complex
network of neuron groups that control and drive respiratory muscle activity,
including the upper airway muscles, during discrete phases of the respiratory
cycle: pre-inspiration, inspiration, active expiration, and passive expiration
[60]. The major CPG neuron groups are the pontine respiratory group, the
medullary neuron groups including the pre-Botzinger complex and Botzinger
10 I. MacLusky
complex, and the ventral respiratory neuron groups. CPG activity is modulated
in part via inputs from neurons in the dorsal medulla (dorsal respiratory group),
including the nucleus tractus solitarius (NTS), which relays pulmonary mecha-
noreceptor, peripheral chemoreceptor, and other visceral afferent sensory
inputs [61]. Located in the ventral medulla, neurons in the retrotrapezoid
nucleus (RTN) are modulated by CO2 and receive input from other CO2-
sensitive areas as well as input from the peripheral chemoreceptors. The RTN
interacts with pre-Botzinger and Botzinger neurons to modulate CPG activity,
and it appears to serve as an important site for integration of CO2 and O2 che-
mosensory drive. Under normal circumstances, this results in a three-phase
respiratory pattern: inspiration (abduction of upper airway and diaphragmatic
contraction), post-inspiration (adduction of the larynx, thereby increasing air-
way resistance and hence slowing of expiratory airflow), and stage 2 (late)
expiration (with, in normal circumstances, low levels of internal intercostal and
abdominal muscle activity) [61]. Feedback from afferent neurons which
respond to changes in respiratory system mechanics, such as with cardiorespi-
ratory disease, induces adaptive changes in respiratory patterns [62]. Any dis-
order that results in impairment of this interaction of internal rhythm generation
with adaptation to external stimuli will therefore result in disturbed ventilatory
control and hence central hypoventilation.
(a) Primary dysfunction of the respiratory nuclei, such as congenital central
hypoventilation syndrome (CCHS) (Chap. 17)
• CCHS arises due to mutations (primarily polyalanine repeat expansions)
in the PHOX2B gene [63]. Although congenital, CCHS can present at
any age, the degree clinical involvement being linked to the number of
polyalanine repeats [63]. CCHS is associated with a variety of disorders
of autonomic function, as well as increased risk of neural crest tumors
[63]. The primary respiratory disorder is alveolar hypoventilation due
blunted central respiratory drive [64], necessitating lifelong respiratory
support, the degree of involvement determining whether invasive versus
noninvasive. Individuals presenting in infancy (the more severely
affected) generally require invasive ventilation, though, as with those
presenting later in life, with improvements in spontaneous ventilation
with age, they may later be weaned to noninvasive ventilation solely dur-
ing sleep [63].
• Other. A variety of other congenital disorders involving both autonomic
and hypothalamic function have been associated with varying degrees of
central hypoventilation [58]. Some are static and some rapidly progres-
sive, with ventilatory support necessary depending upon the degree of
nocturnal hypoventilation. A number of these syndromes are associated
with abnormalities in appetite regulation, with the hyperphagia and
resulting obesity increasing the risk of hypoventilation (above).
b. Secondary to trauma to the respiratory nuclei (Chiari malformation, brain-

stem tumor, spinal cord trauma) or to respiratory motor function (spinal cord
trauma, with damage to phrenic nerve nuclei) (Chap. 16)
When?
Although the need for long-term ventilation can arise as a consequence of a

sudden, catastrophic illness, most children requiring long-term ventilation suffer
from a progressive disease where the development of respiratory failure is an
expected and inevitable sequel of their disease. This does, therefore, allow for
anticipatory guidance, giving the family, patient, and their medical team time to
discuss and plan for the future and thereby have a clear understanding and prepa-
ration for what chronic ventilation entails before it becomes a necessary treat-
ment. Eventual hypoventilation is predictable in many patients with progressive
neuromuscular or pulmonary disease. The optimal time, and particularly what
criteria to be used to determine exactly when ventilator support should be initi-
ated, remains somewhat controversial and almost certainly has to be individual-
ized for each patient [65].
1. Blood gases.
(a) Arterial/capillary blood gas. Although this is the “gold standard” for mea-
suring ventilatory status, it is invasive, difficult to do while the patient is
asleep, and only gives values for one moment in time (though bicarbonate
level provides an estimate of chronicity of hypoventilation). It is therefore
primarily of use to document awake hypercapnia.
(b) Pulse oximetry. Pulse oximetry has the attraction that it provides a continu-
ous, noninvasive record that can be obtained during sleep. It is also a surro-
gate for hypercapnia, since, at a constant inspired oxygen concentration, any
rise in arterial carbon dioxide level, as described by the alveolar gas equa-
tion, results in a reduction in alveolar oxygen pressure (pAO2) and hence a
proportionate fall in arterial oxygen pressure (paO2) [66]. Consequently any
elevation in arterial carbon dioxide above 50 mmHg pressure (so long as the
child is breathing room air) will perforce cause a fall in saturation. There are,
however, a number of situations where it can provide erroneous information
[67], as well as not providing information on sleep state (i.e., whether SWS
or REM sleep was ever achieved).
(c) Noninvasive carbon dioxide (CO2) monitoring (transcutaneous or end tidal).
Both of these methodologies allow for continuous monitoring of carbon
dioxide levels. They both, however, have their limitations in terms of ease of
obtaining and reliability of data obtained [68].
(d) Combination. Allowing for their limitations, combining both CO2 and O2
can be used as a home-based tool in evaluating sleep-related hypoventilation
12 I. MacLusky
[69, 70], though, again, limited by the absence of any information on sleep
state.
2. Clinical. Most patients requiring chronic ventilation suffer from a progressive
disease, the hypoventilation arising insidiously as a result of slow deterioration
of their clinical status. Consequently these patients may adapt to this deteriora-
tion and become tolerant of the resulting impact on their respiratory function
and, as a result, be remarkably (at least perceived) asymptomatic [14, 71].
Clinical assessment is therefore notoriously unreliable in this patient population.
Despite this, a number of authorities have, however, suggested using clinical
assessment to determine both need for, and also adequacy of ventilatory support,
primarily in patients with neuromotor disease.
(a) Symptoms of nocturnal hypoventilation. As noted, because of the REM-
associated skeletal hypotonia, sleep-related hypoventilation is most likely to
occur, at first, during REM sleep. Associated symptoms include frequent
awakenings, night sweats, nightmares, nocturnal enuresis, morning head-
aches, daytime hypersomnolence, and decreased daytime performance [72].
(b) Respiratory pattern. The diaphragm is the primary muscle of inspiration in
normal individuals at rest, with the external intercostals being adjunct inspi-
ratory muscles and the internal intercostals being expiratory muscles and
usually only active during exercise or forced expiration [22]. With respira-
tory muscle fatigue, there may become evidence of recruitment of accessory
muscles of respiration (intercostals and shoulder girdle) even at rest.
Moreover, with increasing muscle weakness, paradoxical respiration may
become apparent. Normally chest and abdominal compartments move in
synchrony during respiration. With intercostal muscle weakness, particu-
larly if the upper airway is also involved, increasing upper airway resistance,
then on inspiration the abdomen moves out, but the chest wall moves in. In
contrast, with predominantly diaphragmatic weakness, where the accessory
muscles become the primary muscles of respiration, the chest wall moves
out on inspiration, yet the abdomen is sucked in. Consequently evaluation of
the patient’s respiratory pattern can provide a significant amount of informa-
tion regarding their respiratory reserve and muscle groups involved [22].
3. Polysomnography. Nocturnal polysomnography (where available) is the “gold
standard” for diagnosing sleep-related breathing disorders and in particular noc-
turnal hypoventilation not associated with daytime hypoventilation [23, 42]. It is
really the only methodology to ensure that all sleep stages were in fact seen,
since patients who never get below light (stage 2) sleep may have very different
ventilation patterns compared to patients with long period of REM or slow wave
sleep [18] (above). It is also the only methodology of quantifying the impact
therapeutic maneuvers (e.g., nocturnal ventilation) have on sleep architecture.
Since pulse oximetry and continuous CO2 monitoring are also integral compo-
nents, polysomnography therefore provides a continuous evaluation of respira-
tory status, not only in response to changing sleep state but also to therapeutic
maneuvers. Polysomnography is, however, labor intensive (and hence relatively
expensive) and, in many centers, of limited availability. Moreover, given the

complexity of sensors employed, and the adverse impact the sleep laboratory
environment may have on sleep, as well as the fact that only 1, perhaps 2, nights
can be studied, some authorities have questioned whether polysomnography is
either reliable or necessary and recommended using symptoms, supported by
oximetry and carbon dioxide monitoring instead to assess adequacy of nocturnal
ventilation [73].
4. Pulmonary function. Pulmonary function testing is a readily available, noninva-
sive, standardized method of measuring both progression of respiratory status
and respiratory muscle function. It can be performed by most cognitively intact
children aged 6 years and over. It therefore holds attraction as a potential method
(especially in patients with slowly progressive neuromotor or pulmonary dis-
ease) for predicting the necessity for initiation of ventilation.
(a) Pulmonary disease. Most of the data linking pulmonary function to respira-
tory status comes from patients with cystic fibrosis (CF), the severity of
which, as a primarily airways disease, is best assessed using the forced expi-
ratory volume in 1 s (FEV1). As a general rule, the probability of survival of
greater than 2 years of patients whose FEV1 is less than 30 % predicted is
under 50 % [74]. This is a relatively old data, but gives a value at which
hypercapnic respiratory failure (either due to progression of the disease or,
as is commonly seen, acute deterioration associated with an additional viral
infection) becomes increasingly likely. Although influenced by many factors
(age, nutritional status, rapidity of progression, opportunistic infection) in
patients with progressive pulmonary disease, formal evaluation of nocturnal
ventilatory status (oximetry or polysomnography) should be considered
once their FEV1 falls below 40 % predicted [75].
(b) Neuromotor disease. Most of the data linking pulmonary function to respira-
tory status comes from patients with DMD, as a disease where patients are
cognitively intact, and survival expected well past the age where the patients
can perform reliable pulmonary function testing. Since these disorders cause
primarily a restrictive pulmonary defect, the inspiratory vital capacity (IVC)
provides the most reliable predictor of nocturnal hypoventilation, with
increasing risk once IVC falls below 40 % predicted [14, 65, 76], though an
FEV1 of less than 40 % has also been suggested as a useful predictor of
sleep-related hypoventilation [77]. Alternatively, at least in adults, peak
cough flow has been shown to be a useful indicator, with flows of less than
160 L per minute being predictors for the need for assisted ventilation [65,
78]. Appropriate values for children have not, however, been established.
Part of the problem with the above tests is that they require maintenance of
an oral seal to perform the test, which can be difficult in individuals with
neuromotor disease. Since this is not required for sniff nasal inspiratory
pressure (SNIP), this may offer a useful alternative [79], though again values
predictive of the need for ventilation, particularly in children, have yet to be
determined.
14 I. MacLusky
Conclusion
Long-term ventilation, primarily with the aim for discharge to home, has become a
routine therapeutic option for children with nocturnal or persisting hypoventilation.
Even though it has now essentially become a standard of care for many clinical
situations, there still remains debate about the precise indications (which patients
are most likely to benefit), the criteria for its initiation, and what is the optimal
methodology to use in individual patients. Despite these limitations, clinical experi-
ence, born out by patient and parental reports, is that for many children, it has
resulted in dramatic improvements in not only longevity but also quality of life,
allowing safe discharge to home for many children who previously faced spending
the remainder of their life in hospital. With its apparent effectiveness, it is difficult
to ethically justify randomized controlled trials. Despite this, with its resulting
increasing use, and resulting longitudinal evaluation of larger populations, we will
hopefully be better placed to answer exactly which patients would most benefit and
the optimal timing for its initiation.
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75. Fauroux B, Pepin JL, Boelle PY, Cracowski C, Murris-Espin M, Nove-Josserand R, et al.
Sleep quality and nocturnal hypoxaemia and hypercapnia in children and young adults with
cystic fibrosis. Arch Dis Child. 2012;97(11):960–6.
76. Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disor-
dered breathing in primary myopathies. Thorax. 2002;57(8):724–8.
77. Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular
dystrophy. Am J Respir Crit Care Med. 2000;161(1):166–70.
78. Tzeng AC, Bach JR. Prevention of pulmonary morbidity for patients with neuromuscular dis-
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79. Fitting JW. Sniff nasal inspiratory pressure: simple or too simple? Eur Respir
J. 2006;27(5):881–3.
Chapter 2
Non-Invasive Mechanical Ventilation
in Children: An Overview
Brian McGinley
Hypoventilation
Ventilatory control is a precisely tuned physiologic process that maintains systemic

oxygen and carbon dioxide levels within very narrow ranges required for appropri-
ate cellular function. This delicate balance has resulted in a complex system that
senses changes in oxygen (O2), carbon dioxide (CO2), and pH in arterial blood and
in the brain and responds to these changes through compensatory responses in the
upper airway and respiratory pump muscles to maintain ventilation (see Fig. 2.1).
Oxygen levels are primarily sensed by the peripheral chemoreceptors, the carotid
bodies, and the aortic bodies. CO2 is sensed mainly by central chemoreceptors that
are widely distributed in the brainstem and, along with the peripheral chemorecep-
tors, input to the medullary respiratory centers in the brainstem. Perturbations in O2,
CO2, and pH will prompt precise changes in the depth of respiration (tidal volume),
respiratory rate, and/or the breathing pattern via diaphragmatic, accessory chest
wall and abdominal muscular contraction. Upper airway musculature also receives
input from central and peripheral chemoreceptors resulting in contraction to main-
tain patency.
When alveolar ventilation is insufficient and oxygen levels become too low and/
or carbon dioxide levels too high, cellular function is impaired. The alveolar venti-
lation equation is useful in understanding the physiologic processes leading to
hypoventilation and indicates that systemic carbon dioxide levels (pCO2) are pro-
portional to the ratio between systemic carbon dioxide production (VCO2) and alve-
olar ventilation (VA) as follows:
B. McGinley, M.D. (*)

Pediatric Pulmonary and Sleep Medicine, University of Utah,
81 N Mario Capecchi Dr., Salt Lake City, UT 84113, USA
e-mail: brian.mcginley@hsc.utah.edu

20 B. McGinley
Cortical activity
wake/sleep
Medullary
respiratory centers
Oropharyngeal and Diaphragmatic, Peripheral/central

laryngeal muscles accessory chest wall, chemoreceptors
and abdominal muscles
Lung Mechanoreceptors
Alveolar ventilation
pH, pO2, pC2O
Fig. 2.1 Ventilatory control
VCO2
pCO2 =∝
VA
Children who hypoventilate can usually be divided into one of two general catego-
ries, as follows: children with lung disease, abnormal upper airway, and/or respira-
tory pump impairment but normal respiratory drive versus children with normal lung,
upper airway, and respiratory pump function but abnormal respiratory drive. The first
category (abnormal lungs/airways/respiratory pump, normal drive) includes those
with upper airway obstruction (e.g., obstructive sleep apnea), insufficient respiratory
pump strength to maintain adequate minute ventilation (e.g., Duchenne muscular
dystrophy), and severe lung disease (e.g., end-stage cystic fibrosis). In contrast, the
second category (normal lungs/upper airway/respiratory pump, abnormal drive)
includes those with inadequate sensation or responses to perturbations of CO2, O2, or
pH, which commonly manifest as central sleep apnea. This group includes children
with peripheral or central nervous system impairment and children given medications
that decrease respiratory drive (see Table 2.1). It is important to note that some
patients may fall into both categories of hypoventilation mechanisms, having
impaired pulmonary/respiratory pump function and abnormal respiratory drive. For
example, blunting of respiratory drive may occur in patients with long-standing mus-
cle weakness and chronic CO2 retention.
2 Non-Invasive Mechanical Ventilation in Children: An Overview 21
Table 2.1 Factors and diseases that may result in hypercapnia

Disturbance of respiratory mechanics Causes and diseases
Normal respiratory system but abnormal respiratory drive
Reductions in respiratory drive Sedation/anesthesia and sleep
Prematurity
Congenital central hypoventilation
syndrome
Obesity hypoventilation syndrome
Cerebral blood flow disturbance
Chiari malformation
Metabolic alkalosis
Prader-Willi syndrome
Hypothyroidism
Sedation/anesthesia and sleep
Lung, airway, or respiratory pump impairment with normal respiratory control
Disorders of oropharyngeal and laryngeal Obstructive sleep apnea
muscles Vocal cord dysfunction
Respiratory muscles Muscular dystrophy
Spinal muscular atrophy
Spinal trauma
Diaphragmatic paresis
Myasthenia gravis
Poliomyelitis
Amyotrophic lateral sclerosis
Chest wall Kyphoscoliosis
Postthoracotomy, spondyloplastic
Lungs Rheumatic diseases
Cystic fibrosis
Bronchopulmonary dysplasia
Chronic lung disease
Asthma
Kartagener syndrome
Increased CO2 production (relevant in Fever
advanced respiratory disease) Excess carbohydrate intake
Children with Normal Lung and Respiratory Pump Function

with Abnormal Respiratory Drive
When central chemoreceptors and the brainstem respiratory controller are not
intact, perturbations in O2 and CO2 will arise due to decreased respiratory drive
and most commonly manifest during sleep. Examples are children administered
sedating medications, infants with apnea of prematurity, and patients with con-
genital central hypoventilation syndrome (CCHS), metabolic alkalosis,
22 B. McGinley
Prader-Willi syndrome, and CNS disorders such as a Chiari malformation.

Mechanisms underlying the association of hypoventilation with sleep state in this
group are numerous and vary by disorder. For example, patients with CCHS have
genetically determined abnormalities in central CO2 sensing, with profound effects
on central chemoreceptor function and breathing rhythm generation during sleep
[1]. Children with Prader-Willi syndrome may hypoventilate during sleep due to
obstructive sleep apnea, abnormal ventilatory sensitivity to CO2, and/or obesity-
related hypoventilation [2].
Obesity hypoventilation is defined as a weight and/or BMI greater than the 95th
percentile associated with daytime symptoms of sleepiness, daytime hypercapnia
with CO2 greater than 45 mmHg, or serum bicarbonate greater than or equal to
27 meq/L and/or oxygen saturation less than 92 % on room air during wakefulness
in the absence of other causes of hypoventilation [3]. Obesity hypoventilation is
associated with decreased quality of life, cardiovascular comorbidity, pulmonary
hypertension, and increased mortality.
Children with Lung Disease and/or Respiratory Pump

Impairment with Normal Respiratory Drive
For children in this category, hypoventilation also most commonly manifests dur-
ing sleep. The transition from wake to sleep is associated with a number of physi-
ologic changes that result in a fall in minute ventilation. Specifically, sleep as
compared to wake is associated with decreased ventilation predominantly through
a reduction in tidal volume [4]. Additionally, during sleep when neuromuscular
tone wanes, the upper airway is prone to collapse leading to obstructive sleep
apnea [5–8]. Taken together, sleep compared to wake is a more vulnerable state for
hypoventilation.
Decreased neuromuscular strength, underlying lung disease, and cardiac disease
independently contribute to hypoventilation and are included in the group of children
who typically have normal respiratory drive but respiratory system impairment.
Children with neuromuscular disease have an increased incidence of upper airway
obstruction and are also susceptible to pathophysiologic processes in the lungs that
compromise minute ventilation. While diaphragm strength is retained in most neu-
romuscular disorders, the progressive loss of skeletal muscle tone in the intercostal
and expiratory respiratory muscles results in a slow onset of hypoventilation in
many patients that often manifests first during sleep [9]. The development of scolio-
sis, which is common in children with neuromuscular disease, further worsens
hypoventilation as a result of decreases in both lung volumes and chest wall compli-
ance [10]. Children with neuromuscular weakness who lose the ability to cough
effectively are vulnerable to increased mucous impaction and resultant atelectasis.
Finally, lower lung volumes have been shown to increase pharyngeal collapsibility
during sleep, posited to be largely a result of decreased caudal traction on the phar-
ynx [11]. These factors individually or in combination can lead to an inability to
meet ventilatory requirements over time.
Evaluation of Ventilation and CO2 Homeostasis
Evaluation of ventilation during sleep should begin with a detailed history and
physical examination. Symptoms of hypoventilation during sleep include frequent
awakenings, headaches on awakening, difficulty concentrating, decreased energy,
fatigue, and sleepiness during the day. It is recommended that a discussion of these
symptoms occurs at clinic visits for children with suspected obstructive sleep apnea
and for all children with neuromuscular disease or other conditions associated with
hypoventilation. It should be noted that symptoms obtained during history and
physical exam can underestimate polysomnography findings [12]. Thus, there
should be a low threshold to perform polysomnography in children at high risk for
hypoventilation.
When suspicion for hypoventilation during sleep arises, polysomnography is
recommended to assess for the presence and severity of sleep disordered breathing
and if present to differentiate between potential etiologies such as upper airway
obstruction, decreased respiratory drive, or lung disease leading to gas exchange
abnormalities. Hypoventilation during sleep in children is defined as CO2 greater
than 50 mmHg for greater than 25 % of total sleep time [13]. Figure 2.2 shows a
12-year-old male with achondroplasia and severe obstructive sleep apnea (apnea-
hypopnea index of 112 events/h of sleep) following adenotonsillectomy. As can be
seen the patient exhibited ongoing thoracic and abdominal effort associated with an
absence of inspiratory airflow associated with oxyhemoglobin desaturations to 83 %
Fig. 2.2 Obstructive sleep apnea on polysomnography

24 B. McGinley
Fig. 2.3 Central hypoventilation on polysomnography
indicating obstructive apneas. The high rate of obstructive apneas in this patient was
associated with transcutaneous CO2 levels that were greater than 50 mmHg for
approximately 70 % of the total sleep time and were as high as 72 mmHg.
In contrast, Fig. 2.3 shows a polysomnographic tracing of the breathing pattern
during sleep of a 12-year-old female with a Chiari malformation who complained of
headaches on awakening. Her apnea-hypopnea index was 0 events/h. Her end-tidal
CO2 levels, however, were greater than 50 mmHg for 50 % of her sleep time and
were as high as 62 mmHg. The patient had a respiratory rate of eight breaths per
minute and the inspiratory flow contour was round consistent with a non-obstructed
breathing pattern. These findings are consistent with hypoventilation secondary to a
decreased respiratory drive.
If polysomnography is not available, additional methods to evaluate ventilation
during sleep include pulse oximetry, end-tidal or transcutaneous CO2 devices, or
blood gas performed during wake or sleep. It should be noted that while recommen-
dations for the assessment of CO2 during polysomnography by the American
Academy of Sleep Medicine do not distinguish between end-tidal and transcutane-
ous devices, there are potential shortcomings with both devices [13]. Both end-tidal
and transcutaneous CO2 measurements are well tolerated by children during sleep,
readily available, and commonly employed to assess CO2 during polysomnography.
Sidestream end-tidal CO2 accurately reflects arterial CO2 under normal breathing
conditions when adequate expiratory airflows are entrained, which can be seen when
the CO2 waveform plateaus reflecting exhalation of gas from the alveoli. The side-
stream end-tidal method can underestimate CO2 levels, however, when the plateau
in CO2 concentration is not attained [14]. Underestimation of CO2 with the end-tidal
device will occur during rapid shallow breathing, when nasal airflow is reduced or
absent such as when the cannula is removed or if the patient is mouth breathing. The
transcutaneous CO2 method has also been used to assess arterial CO2 levels during
sleep. There are well-described gradients between arterial and transcutaneous levels
during sleep; however, transcutaneous measurements of CO2 may underestimate
systemic levels if contact with skin is impaired or overestimate if the heated probe
is in contact with the same area of skin for a prolonged period leading to elevated
localized temperature and thereby local increases in CO2 production [15, 16].
In children with lung disease or neuromuscular disorders, lung function tests
should also be considered as a part of their routine assessment. Lung volumes can
be particularly helpful identifying patients at risk for hypoventilation. Decreases in
residual volume are commonly seen prior to a reduction in total lung capacity. Lung
function in patients with Duchenne muscular dystrophy has been correlated with
findings of gas exchange perturbations during polysomnography [9]. In general,
ventilation during sleep should be evaluated when FVC falls below 60 % predicted
[17]. If the patient has additional comorbidities such as heart disease or lung disease,
ventilatory failure might occur with milder degrees of neuromuscular weakness.
Noninvasive Treatment of Hypoventilation
Noninvasive positive pressure ventilation is the delivery of air from a compressor to

the patient without use of an endotracheal tube, with patient interfaces that include
nasal or full face mask, nasal prongs, nasal cannula, or mouthpiece. The most com-
mon noninvasive ventilation modalities are continuous positive airway pressure
(CPAP) and bi-level positive airway pressure. For both modalities air is delivered
from a compressor via tightly fitting nasal or full face mask attached by headgear or
straps that fit around the head and increases pressure in the upper airway. Noninvasive
ventilation treatment during wake can be effectively achieved with the use of a ven-
tilator that delivers large tidal volumes to the patient by a mouthpiece often referred
to as sip and puff ventilation. A relatively new noninvasive ventilation positive pres-
sure modality is high-flow nasal therapy (HFNT), which delivers air at high flow
rates via nasal cannula and can be used during wake and sleep [18, 19]. Effective
treatment of hypoventilation requires an understanding of the underlying patho-
physiology responsible for an elevation of systemic CO2 and the mechanisms of
different noninvasive positive pressure ventilation modalities on gas exchange.
The goal of ventilatory support is to increase minute ventilation and thereby
reduce systemic CO2 levels. As discussed above systemic CO2 is proportional to the
ratio of CO2 production (VCO2) to alveolar ventilation, which is equivalent to tidal
volume (Vt) minus physiologic dead space (Ds). Thus, reducing systemic CO2 lev-
els can be achieved by increasing tidal volumes and/or decreasing physiologic dead
space as follows:
VCO2
pCO2 =∝
Vt − Ds
For children with obstructive sleep apnea who hypoventilate due to upper airway
obstruction, CPAP can effectively alleviate upper airway obstruction, and when
respiratory drive is intact, inspiratory tidal volumes increase and gas exchange
improves [20]. For children with insufficient respiratory pump strength or lung
26 B. McGinley
disease as well as for children with decreased respiratory drive, bi-level positive
airway pressure can augment tidal volumes to normalize gas exchange during sleep.
High-flow nasal therapy produces a small amount of positive pressure in the upper
airway, thereby decreasing upper airway obstruction [21]. The high flow of air also
washes out gas in the upper airway decreasing dead space. It should be noted that
while correction of hypoxia can be achieved with supplemental oxygen, caution
must be used in children who hypoventilate such as children with neuromuscular
disease because of the potential for worsening hypercapnia when hypoxic ventila-
tory drive is decreased. Thus, when supplemental oxygen is administered to chil-
dren who hypoventilate, CO2 levels should always be monitored.
Continuous Positive Airway Pressure
The most common indication for noninvasive positive pressure ventilation in

children is obstructive sleep apnea. Obstructive sleep apnea is the result of pharyn-
geal collapse during sleep due to the combination of increased mechanical loads
(anatomic upper airway properties) and insufficient compensatory neuromuscular
responses to obstruction [8, 22–26]. During sleep when neuromuscular tone falls,
the upper airway is prone to collapse [5, 27, 28]. Manipulations of nasal CPAP to
assess nasal pressure maximal flow relationships are considered the gold standard
to assess upper airway collapsibility, termed the critical closing pressure or Pcrit.
Utilizing the Starling resistor to model airflow through a collapsible tube, airflow
through the pharynx is dependent on the relationships between the surrounding
pressure of the pharynx and pressure downstream in the lower airways and
upstream at the nose. When Pcrit is more positive than upstream pressure, com-
plete collapse occurs and there is no airflow (apnea). When pressure downstream
falls below Pcrit, partial airway occlusion occurs and airflow is dependent on the
gradient between pressure upstream and the collapsible segment in the pharynx. To
alleviate upper airway obstruction, either the Pcrit must be lowered (more nega-
tive) or nasal pressure increased. Adenotonsillectomy is the first line of treatment
recommended by the American Academy of Pediatrics for children for obstructive
sleep apnea children, which reduces mechanical loads in the pharynx and decreases
Pcrit [29]. Additional factors that can reduce Pcrit include a change in body posi-
tion, for example, from supine to side, and weight loss [30]. Following adenoton-
sillectomy approximately 35 % of children have residual sleep apnea [31]. For
children with residual sleep apnea, children who refuse surgery, or children who
are not deemed appropriate surgical candidates, noninvasive positive pressure
ventilation is recommended. The primary effect of CPAP is to increase nasal pres-
sure and create a positive pressure gradient upstream between the nose and the
point of airway collapse in the pharynx. In addition to improving pharyngeal
patency, CPAP also has been shown to improve gas exchange by increasing lung
volumes and decreasing atelectasis [32].
Because patient comfort is correlated with adherence with noninvasive positive

pressure ventilation [32–34], selecting an appropriately sized mask the patient
finds comfortable is important. There are a number of patient interfaces including
nasal masks, full face masks, and nasal pillows. If treatment of upper airway
obstruction is the goal, caution should be used with a full face mask. At the same
level of pressure, a full face mask compared to a nasal mask is often associated
with decreased efficacy in restoring upper patency and in some cases will not
restore upper airway patency at high pressure levels or require increased pressure
levels resulting in discomfort to the patient [26]. The mechanisms that decrease
the efficacy of a full face mask for treating obstructive sleep apnea are not clear;
however, investigators speculate that when breathing through the nose and mouth,
a full face mask does not create an adequate pressure gradient across the orophar-
ynx or hypopharynx to restore patency and that increased pressure applied to the
chin may force the mandible and tongue posteriorly and increase pharyngeal col-
lapse. Moreover, a full face mask should be used with great caution in young
patients and those with neuromuscular weakness because the patient has to be able
to remove the mask in event of emesis to avoid aspiration or during machine or
power failure to prevent an asphyxic event. Polysomnography is recommended to
assess the appropriate pressure settings because it effectively demonstrates the
relationship between nasal pressure on upper airway obstruction, gas exchange,
and sleep quality [35].
Bi-level Positive Airway Pressure
For patients who hypoventilate without evidence of upper airway obstruction or

have ongoing impairment in gas exchange after upper obstruction is alleviated with
CPAP, bi-level positive airway pressure has been shown to effectively restore
appropriate oxygen and carbon dioxide levels in children. The therapeutic mecha-
nisms to increase minute ventilation are similar to invasive mechanical ventilation;
most bi-level devices provide an ability to alter expiratory pressure, inspiratory
pressure, respiratory rate, and inspiratory time. In contrast to invasive mechanical
ventilation, when using noninvasive positive pressure ventilation to increase minute
ventilation, the upper airway must be taken into consideration. If upper airway
obstruction is present, expiratory positive airway pressure (EPAP) should be
adjusted first to restore upper airway patency so that adjustments of inspiratory
positive airway pressure (IPAP), respiratory rate, and inspiratory times can effec-
tively increase minute ventilation and restore normal gas exchange. In patients
without upper airway obstruction, a full face mask can be used effectively to restore
ventilation; however, the same concerns for young patients and patients with neu-
romuscular disease above persist. The bi-level settings required to restore gas
exchange should be assessed while monitoring oxygen and carbon dioxide levels
using the lowest pressures that effectively alleviate upper airway obstruction and
normalize gas exchange, which like CPAP are best assessed with polysomnography
28 B. McGinley
[35]. Once noninvasive positive pressure ventilation is established during sleep,

reevaluation with polysomnography should occur regularly, with intervals depen-
dent on age and clinical features. For example, the evaluation of ventilation during
sleep in older children can occur yearly if stable, while reevaluation of ventilation
during sleep in younger children might be scheduled more frequently as require-
ments may change with growth.
High-Flow Nasal Therapy
High-flow nasal therapy (HFNT) has been used in the hospital setting particularly on
pediatric intensive care units and has recently become commercially available for
home use. High-flow nasal therapy delivers air through a nasal cannula that is heated
and humidified at flow rates ranging from 5 to 50 L/min. In contrast to CPAP or bi-
level airway pressure devices, high-flow nasal therapy does not require formation of a
seal at the nose and/or mouth. High-flow nasal therapy has proven efficacious in the
treatment of children and adults with mild to moderate OSA [21, 36]. While there is
a slight increase in nasal pressure, the lack of a seal limits the amount of nasal pres-
sure to approximately 2 cm H2O at 20 L/min in adults, suggesting that there are addi-
tional mechanisms of action that stabilize the breathing pattern and normalize gas
exchange [21]. Figure 2.4 is a 15-year-old female with cystic fibrosis who underwent
Fig. 2.4 Trial of high-flow nasal therapy in a patient with cystic fibrosis
trial off and on HFNT at 20 L/min alternating over 10 min periods. HFNT at 20 L/min
was associated with a reduction in both CO2 from 47 to 44 mmHg and minute ventila-
tion from 7.6 to 5.7 L/min. The alveolar ventilation equation (see “Children with
Normal Lung and Respiratory Pump Function with Abnormal Respiratory Drive”)
indicates that the reduction in systemic CO2 associated with a decrease in minute
ventilation is due to either decreased dead space ventilation by washing CO2 out of the
upper airway or decreased production of CO2 suggesting decreased energy expendi-
ture from the work of breathing. The effects of HFNT on CO2 levels in children with-
out upper airway obstruction suggest a potential role for children with lung disease
and neuromuscular disorders, including those with mild disease, or as a bridging
therapy until more aggressive noninvasive ventilatory support (e.g., bi-level positive
airway pressure) or tracheostomy is required. HFNT might also be particularly help-
ful for young children including infants with OSA and children who have significant
difficulty tolerating CPAP or bi-level noninvasive ventilation due to the patient inter-
face. Studies evaluating effectiveness of HFNT in the home setting have not been
performed, and the role of HFNT in both children with OSA and children who
hypoventilate without OSA has not been adequately determined.
Noninvasive Positive Pressure Ventilation During Wakefulness
Hypoventilation can develop acutely during wakefulness in patients with neuro-

muscular disorders or in otherwise healthy children, for example, with pneumonia
or status asthmaticus. The use of noninvasive positive pressure ventilation in the
intensive care unit setting for children with an acute onset of hypoventilation during
wakefulness has been shown effective at reducing intubation and length of stay and
should be considered as the first approach to support ventilation particularly for
children with neuromuscular disorders. Treatment with noninvasive positive
pressure ventilation in the critical care setting, however, is outside of the scope of
this book chapter. For children with chronic hypoventilation during wakefulness,
noninvasive ventilation has been shown to effectively restore oxygen and carbon
dioxide levels and might decrease the need for mechanical ventilation [37]. For
short periods of time, noninvasive positive pressure ventilation via mask can be
well tolerated during wake without significant complication. Because noninvasive
positive pressure ventilation by mask requires a tight seal and if use is required for
more than 24 h consecutively, the risk of skin breakdown increases, which needs to
be taken into consideration for children requiring ventilator support for prolonged
periods [38].
When hypoventilation is present during wakefulness, assessing hypoventilation
during sleep and if present treating can improve daytime gas exchange and reverse
hypercapnia when awake [39–42]. Several studies in children with neuromuscular
disease have demonstrated decreased development of hypercapnia during wake-
fulness and improvement in diurnal oxygenation and carbon dioxide levels when
gas exchange was normalized during sleep [40, 43–45]. Reversal of daytime
30 B. McGinley
hypoventilation with nocturnal noninvasive positive pressure ventilation treatment

suggests that patients develop a loss of sensitivity to elevated carbon dioxide and
hypoxia that can be restored and improve ventilation during wakefulness when gas
exchange is normalized during sleep. In children with neuromuscular disorders,
rest of respiratory musculature during sleep might also play a role in restoring
daytime gas exchange.
For patients requiring chronic noninvasive positive pressure ventilation during
wakefulness and sleep, a commercially available mouthpiece can be attached to a
ventilator for use when awake, which is often referred to as mouthpiece ventilation
or sip and puff ventilation [46, 47]. One approach is to set the ventilator in assist
control cycling at high volumes in a timed mode with the alarms turned off. The
mouthpiece should be placed next to the patient’s mouth allowing them to place it
between their lips and inhale at regular intervals to augment inspiratory tidal volumes
as needed. Mouthpiece ventilation is well tolerated and does not interfere with eating
or speaking. If patients have an aversion to noninvasive positive pressure ventilation,
if it is contraindicated, or if hypoventilation cannot be corrected by noninvasive posi-
tive pressure ventilation, invasive mechanical ventilation should be considered.
Alternatively, high-flow nasal therapy (HFNT) when heated and humidified has
been shown to improve oxygenation and comfort in children with respiratory distress
in an intensive care setting [48]. In adults, HFNT during wakefulness increased tidal
volumes and lowered respiratory rate [18]. These studies suggest a possible role for
HFNT in children with chronic hypoventilation during wakefulness. Taken together
the data suggest the use of heated and humidified air delivered through a nasal can-
nula has the potential for treatment of chronic hypoventilation in children during
wakefulness; however, further studies assessing its specific role are needed.
Introducing Noninvasive Positive Pressure Ventilation
Initiation of noninvasive positive pressure ventilation should be considered in

children with diurnal or nocturnal hypoventilation and obstructive sleep apnea
as noted above. Discussion of the need for and the goals of noninvasive positive
pressure ventilatory support should occur with patients and their families and
the medical team on a routine basis and should begin as early as possible. For
most patients with progressive and slow onset of hypoventilation, ventilatory
support can be effectively initiated in the outpatient setting. Initiation of nonin-
vasive positive pressure ventilatory support can be difficult for families and
when possible should be done slowly and carefully because experience with
noninvasive positive pressure ventilation in the first 1–2 weeks of use is strongly
associated with long-term adherence [33, 49]. Introduction of the device during
wakefulness for young children and children resistant to initiation can be help-
ful. One approach is to introduce the mask alone without airflow during wake-
fulness and when tolerated add a low level of pressure. Once airflow is tolerated
during wakefulness, it can be incorporated into the bedtime routine slowly
increasing the duration of use. For patients unable to tolerate the initiation of
noninvasive positive pressure ventilation, psychologists trained in cognitive

behavioral therapy can be helpful [50]. Tracheostomy may be considered in
children who are unable to tolerate noninvasive positive pressure ventilation
or when noninvasive positive pressure ventilation is inadequate to meet the
patient’s ventilatory needs.
Benefits of Noninvasive Positive Pressure Ventilation
In children with neuromuscular disorders, such as Duchenne muscular dystrophy,

who have hypercapnia, the use of noninvasive positive pressure ventilation has been
associated with improved survival [51–53]. In children with spinal muscular atro-
phy treatment, noninvasive positive pressure ventilation and invasive mechanical
ventilation via tracheostomy were similar in regard to mortality [37]. It should be
noted that most studies assessing effects of noninvasive positive pressure ventilation
in children with neuromuscular disease on mortality are limited by their retrospec-
tive design and small numbers of patients studied.
In addition to effects on mortality, noninvasive positive pressure ventilation has also
been associated with reduced comorbidities in children with neuromuscular disease.
Specifically, noninvasive positive pressure ventilation has been associated with decreased
incidence of hospital admission [45]. Use during sleep has been shown to improve qual-
ity of sleep, decrease daytime sleepiness, increase sense of well-being and independence,
improve concentration, and reduce the incidence of morning headaches [40, 52–54].
Decreased neuromuscular tone is associated with impairment of chest wall shape
and growth, which might also be mitigated with noninvasive positive pressure ven-
tilation. As a result of intercostal and expiratory muscle weakness, respiratory move-
ment can become asynchronous ultimately resulting in a bell-shaped chest wall.
There is some evidence that chest wall shape can be maintained when noninvasive
ventilation is introduced early in life and pressure levels are titrated to prevent asyn-
chronous respiratory motion [55]. While underlying mechanisms responsible for
maintaining chest wall shape are unclear, possibilities include alleviation of lower
airway obstruction and the reduction of atelectasis. The effects of noninvasive posi-
tive pressure ventilation on chest wall shape and growth is an active area of study
that has the potential to slow the rate of decline of pulmonary function and thereby
significantly improve respiratory health of children with neuromuscular disorders.
Complications of Noninvasive Ventilation
The most common complication of noninvasive positive pressure ventilation is

skin breakdown and ulceration. As discussed previously, the risk is increased
with use over prolonged periods of time. The risk of skin breakdown also increases
with excessive tightening of headgear straps and increased pressure applied to the
face [38, 56]. When initiating CPAP, the medical team can be very helpful in
32 B. McGinley
demonstrating appropriate amount of pressure required to create an effective seal.

The mask should be cleaned daily to remove oils that adhere to the mask from the
face and contribute to skin breakdown. When skin irritation begins, it can be
effectively alleviated with use of hydrocolloid tape to prevent skin irritation while
maintaining a good seal and minimizing air leak. These complications can be
decreased with assessments of mask fit and adjustments of mask fit and type when
needed. Other common complications include nasal dryness and irritation which
can result in nasal bleeding. This can be effectively treated with application of heat
and humidity [57–59]. If irritation continues despite adequate heat and humidity,
nasal steroids can effectively reduce nasal irritation. Use of positive pressure dur-
ing sleep can result in gaseous distention of the abdomen, the risk of which is
increased with higher levels of pressure. If a G-tube is present, venting the abdo-
men through the G-tube during sleep can help to decrease the risks associated with
gastric distention. As discussed previously, there is risk of aspiration associated
with emesis into a full face mask. Introduction of tightly sealed mask with pres-
sure applied to rapidly developing facial bony structures has been associated with
significant maxillary hypoplasia. Fauroux et al. assessed 40 children who had been
using noninvasive positive pressure ventilation for a minimum of 4 weeks and
found facial flattening in 68 % of children, with severity correlated with hours per
day of mask use [60]. The risk of maxillary hypoplasia might be reduced with
alternative patient interfaces or by altering masks to apply pressure at different
points on the face and could include use of nasal pillows when possible; however,
there are no studies assessing these interventions.
Future Considerations
Noninvasive positive pressure can effectively support the ventilatory needs for
many children who hypoventilate. Understanding the etiology responsible for
hypoventilation and choosing the appropriate modality and settings are critical to
restore ventilation. Many questions regarding noninvasive ventilation, however,
remain. Adherence with noninvasive ventilation remains suboptimal in some
patient populations including children with obstructive sleep apnea. While
advances in patient interfaces have improved comfort, adherence has not improved
markedly. Of particular concern are young children and infants, for whom options
for noninvasive patient interfaces are limited. Moreover, the roles of newer non-
invasive ventilation modalities including the high-flow nasal cannula system for
children who hypoventilate have not been adequately determined.
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Chapter 3
Chronic Invasive Mechanical Ventilation
Howard B. Panitch
Introduction
Chronic mechanical ventilation via tracheostomy is commonly employed in chil-

dren with craniofacial abnormalities that cause obstruction that cannot be over-
come by noninvasive means, infants and some children with chronic respiratory
failure who require continuous ventilatory support, infants and children with
congenital heart disease, and those with severe developmental delay who cannot
adapt to noninvasive ventilation [1–4]. Compared with those children with chronic
respiratory failure who use noninvasive ventilation, children requiring invasive
ventilatory support tend to be younger at the time that they first require chronic
ventilatory support [2, 5], have more complex disease [6], or require more hours
per day of support [5]. Invasive ventilation is also used when noninvasive support
does not correct respiratory failure or when a child cannot tolerate noninvasive
ventilation [7]. Ventilation via tracheostomy is also occasionally employed transiently
to facilitate rehabilitation in a child with chronic respiratory failure recovering from
a catastrophic illness or injury.
H.B. Panitch, M.D. (*)

Division of Pulmonary Medicine, Technology Dependence Center, The Children’s Hospital
of Philadelphia, University of Pennsylvania Perelman School of Medicine,
11054 Colket Translational Research Building, 3501 Civic Center Boulevard, Philadelphia,
PA 19104, USA
e-mail: panitch@email.chop.edu

38 H.B. Panitch
Ventilator Settings and Mechanics of Breathing
Ventilators used for children with tracheostomies assist breathing by providing pos-
itive pressure to assume some or all of the respiratory work. The way a ventilator
controls a delivered breath is derived from the Equation of Motion of the Respiratory
System. Briefly, the pressure needed to move air from the atmosphere into the alve-
olus must be used to overcome elastic forces to inflate the lung and chest wall, and
resistive forces to stretch tissues and to move air through the airways. At very high
respiratory rates (i.e., as seen during high-frequency oscillatory ventilation), there is
also a pressure cost associated with accelerating gas particles. This inertance pres-
sure is negligible over the range of breathing frequencies of conventional ventila-
tors, however, and can be ignored when considering breathing frequencies of less
than 100 breaths/min.
The simplified equation of motion is written P = DVE + RV , where P is the pres-
sure above end-expiratory pressure required to achieve an adequate breath, ΔV is
the volume change desired (tidal volume), E is the elastance (the reciprocal of com-
pliance, describing the tendency of the lung tissue to resist stretch), R is resistance,
and V is the inspiratory flow. The pressure required to achieve the breath can be
generated by a ventilator alone (in which case all of the pressure is positive or above
airway opening pressure), by the patient’s respiratory muscles alone (where all
inspiratory pressure is below airway opening pressure), or by a combination of the
two.
Depending on how the ventilator is set to interact with the patient, resulting
breaths can either be mandatory or spontaneous (Table 3.1). If the ventilator either
initiates or ends (cycles) an inspiration based on operator settings, it is termed a
“mandatory” breath. If, however, the patient both initiates (triggers) and cycles a
breath, it is termed a “spontaneous” breath [8] (Fig. 3.1). Note that in this scheme,
a breath can be considered spontaneous even if the ventilator provides some of the
pressure for the breath, as long as the breath is started and stopped by patient effort
or respiratory system mechanics.
According to the equation of motion, for any given breath only one variable at a
time (pressure, volume, or flow) can be made an independent variable and therefore
set by an operator (Table 3.1). The other variables are dependent and will be deter-
mined by how the independent variable is set and by the patient’s respiratory
mechanics. This is exactly how ventilators work, by controlling either pressure,
volume, or flow for a given breath. Early home ventilators were equipped to control
only volume, but newer generation machines can be set up to control either pressure
or volume.
When a ventilator is set in pressure control (PC) mode (sometimes called pressure
preset ventilation), each breath delivered by the ventilator provides a preset pressure
for a set duration (inspiratory time). The size of the resulting breath will depend on
respiratory system resistance and compliance; if these change between breaths, i.e.,
because of bronchospasm, leak in the system, pneumothorax, mucous plug, etc., so
too will the volume of the resulting breath. The inspiratory flow is determined by the
3
Table 3.1 Type of ventilator breath

Mode Inspiratory trigger Expiratory cycle Inspiratory time Peak inspiratory pressure Tidal volume Inspiratory flow
VC-CMV T or patient V or T Set or function Variable: changes with Set; remains constant Set or function of rate
of rate and V respiratory mechanics or and V settings; remains
patient effort constant
PC-CMV T or patient T Set; remains Set; remains constant Variable: changes with Variable: changes with
constant respiratory mechanics respiratory mechanics or
or patient effort patient effort;
Chronic Invasive Mechanical Ventilation
decelerating waveform
PC-CSV Patient Function of rate Set; remains constant Variable: changes with Variable: changes with
V
and V or respiratory mechanics respiratory mechanics or
respiratory or patient effort patient effort;
mechanics decelerating waveform
VC-IMV M: T M: V or T M: see VC-IMV M: see VC-IMV M: see VC-IMV M: see VC-IMV
S: patient S: see PC-CSV S: see PC-CSV S: see PC-CSV S: see PC-CSV
S: P or V
PC-IMV M: T M: T M: see PC-IMV M: see PC-IMV M: see PC-IMV M: see PC-IMV
S: patient S: see PC-CSV S: see PC-CSV S: see PC-CSV S: see PC-CSV
S: P or V
VC volume control, PC pressure control, CMV continuous mandatory ventilation, CSV continuous spontaneous ventilation, IMV intermittent mandatory venti-
lation, T time, V volume, V flow, M mandatory, S spontaneous
39
40 H.B. Panitch
Fig. 3.1 Mandatory and spontaneous ventilation. (a) A patient is receiving volume control-
continuous mandatory ventilation (VC-CMV). The airway pressure tracing of the first breath
shows that it is a machine (time)-triggered breath, based on the rate set by the clinician. The second
breath is triggered by the patient, as seen by the drop in airway opening pressure, but it is cycled
based on the inspiratory time set by the clinician. Since both breaths are either triggered or cycled
by the ventilator settings, they are considered mandatory breaths. (b) A patient is receiving volume
control intermittent mandatory ventilation with pressure support ventilation (VC-IMV + PSV). As
in the first example, the first breath is machine triggered and cycled. The second breath is patient
triggered and cycles when inspiratory flow falls below 25 % of the peak inspiratory flow. Since the
second breath is triggered by patient effort and cycled by patient respiratory system mechanics, it
is a spontaneous breath; thus, the mode is IMV. (I inspiration, E exhalation)
mechanics of the patient’s respiratory system and decreases as the airway-alveolar

pressure difference decreases with lung filling. Although the flow rate is not set by
the operator, the time required to reach the desired inspiratory pressure (called “rise
time,” “slope,” or “profile”) can be adjusted and so can alter the initial flow.
A ventilator set in volume control (VC) mode will deliver the desired tidal vol-
ume even when compliance or resistance of the respiratory system changes: it
merely changes the pressure used to deliver the breath. The inspiratory flow of the
breath is constant throughout the breath, but the flow rate can be set by the operator.
A higher inspiratory flow will fill the lung faster but at a higher pressure.
Combining the factor being controlled with the type of breathing pattern desired,
ventilator breaths can therefore be classified as either pressure or volume controlled
and continuous mandatory ventilation (CMV), continuous spontaneous ventilation
(CSV), or intermittent mandatory ventilation (IMV) where mandatory breaths are
interspersed with spontaneous ones [9].
In the latter situation, depending on the scheme chosen, volume or pressure control
can be used for mandatory breaths, while pressure control is used for interspersed spon-
taneous breaths [9, 10]. This is exactly what happens when synchronized IMV (SIMV)
3 Chronic Invasive Mechanical Ventilation 41
is combined with pressure support ventilation (Fig. 3.1b): the mandatory (SIMV) breaths
are initiated by time (the rate set on the ventilator) and can be either PC or VC. The pres-
sure support breaths that the patient takes in between the mandatory breaths are initiated
by the patient and cycled by the mechanical characteristics of the patient and so are
spontaneous. These breaths are delivered in a PC mode [10]. The combinations of what
variable the ventilator controls and type and sequence of breaths used are the chief deter-
minants of the various ventilator modes set by clinicians [9–11].
Modes of Mechanical Ventilation
The mode chosen for ventilator support refers to how the ventilator interacts with
the patient. This includes how each breath is initiated and cycled, the method by
which the breath is delivered, and potentially several other conditional or target
variables that can modify pressure or flow patterns. Unfortunately, ventilator manu-
facturers have not embraced a common taxonomy to describe the modes that their
products can deliver, leading to a multitude of names for similar modes and confu-
sion or misunderstanding about the type of breaths being delivered on the part of
ventilator operators. Clinicians and investigators involved in the study of ventilator
function favor the use of a uniform classification system that accurately describes
the characteristics of various modes of mechanical ventilation [8–11]. Using that
taxonomy, several common modes of ventilation can be analyzed for how the ven-
tilator and patient interact with each other and then indications for when one mode
might be preferable over others can be discerned.
Continuous mandatory ventilation (CMV) (Fig. 3.2): this mode of ventilation is
commonly referred to as control ventilation if there is no opportunity for the patient
to initiate any breaths (Fig. 3.2a) or assist/control (A/C) ventilation if the patient can
trigger breaths in between machine-initiated breaths (Fig. 3.2b) [12]. Thus, if the set
ventilator rate is below the patient’s needs, the patient can trigger the ventilator and
receive additional breaths. Whether machine or patient triggered, the delivered tidal
volume of each breath will be the same [13]. The breath can be volume or pressure
controlled, depending on the operator’s preference. In control mode, every breath is
time triggered, based on the set respiratory rate of the ventilator. In A/C mode,
breaths will be time triggered based on the set rate, or when patient triggered they
will be pressure, volume, or flow triggered depending on the characteristics of the
ventilator. Every breath is machine cycled based on volume or time. This mode of
ventilation reduces respiratory work by providing complete support for every breath
while aiming to achieve the desired tidal volume. Control ventilation is used when
the patient’s respiratory drive is inadequate because of a brainstem lesion, pharma-
cologic suppression, or in a patient with a high spinal cord lesion who cannot initiate
any breathing effort. If the ventilator is set in A/C mode but the set rate is high
enough to suppress any spontaneous efforts, the delivered mode is in effect one of
control ventilation. If possible, this should be avoided since control ventilation is
associated with the development of diaphragm atrophy and loss of function [14].
42 H.B. Panitch
Fig. 3.2 Continuous mandatory ventilation (CMV). (a) A patient is receiving VC-CMV. Each
breath is machine triggered based on the rate set by the clinician: there is no patient effort to trigger
a breath. This type of CMV is also referred to as “control” ventilation. (b) A patient is again receiv-
ing VC-CMV, but the second breath pictured is triggered by patient effort, before the time interval
set by the clinician. In response to patient demand, the ventilator delivers a VC breath that is time
cycled and otherwise identical to the breath delivered by machine triggering. This type of CMV
has also been referred to as “assist/control” ventilation
Continuous spontaneous ventilation (CSV) (Fig. 3.3a): this type of ventilation pat-
tern refers to modes like pressure support ventilation (PSV) or continuous positive
airway pressure (CPAP). Although CPAP does not provide inspiratory positive pres-
sure assistance, it does provide a clinician-set constant pressure while the patient
breathes spontaneously [12, 15]. Other modes of CSV like neurally adjusted venti-
latory support or proportional assist ventilation are not yet available on portable
home ventilators and will not be discussed.
CPAP delivers a baseline elevation of pressure above atmospheric pressure dur-
ing spontaneous breathing [12, 15]. It is differentiated from positive end-expiratory
pressure (PEEP) by virtue of the fact that PEEP is used during mechanical ventila-
tion and refers to control of the baseline pressure during some other mode of
mechanical ventilation [12]. It is also conceivable that with a large inspiratory
effort, a patient could generate enough negative pressure to cause airway pressure
to become subatmospheric during inspiration while still maintaining the set positive
expiratory pressure. Such a condition might occur, for instance, if the inspiratory
trigger sensitivity of the ventilator were set in such a way that the patient had to
exert excessive effort to trigger a breath or if inspiratory flow were inadequate to
meet the patient’s demand; these represent situations that need to be corrected.
CPAP is typically used to maintain functional residual capacity (FRC) in a sponta-
neously breathing patient. This is especially important in infants and toddlers in
Fig. 3.3 Continuous spontaneous ventilation (CSV). (a) A patient is supported by continuous
positive airway pressure (CPAP). The baseline pressure is elevated above atmospheric (0) but there
is no positive pressure support during inspiration (I). Each breath is patient triggered and cycled.
(b) This patient is receiving pressure support ventilation (PSV). Each breath is patient triggered.
The breath is cycled when inspiratory flow falls below a predetermined threshold. In the first
breath, that value is 40 % of the peak flow. Note that the breath is shorter and the resulting tidal
volume is smaller than in the second breath, where flow must fall below 25 % of the peak flow to
cycle to exhalation
whom the chest wall is more compliant than the lung [16]. Infants actively maintain
FRC above resting end-expiratory lung volume by constricting laryngeal adductors
and initiating inspiratory muscle contraction during exhalation to retard expiratory
flow [17, 18]. Thus, placement of a tracheostomy tube in a newborn with severe
upper airway obstruction could impair some infants’ ability to maintain FRC; if this
were to occur and the function could not be restored with a speaking valve, the
infant would require application of CPAP to maintain FRC. CPAP can also be used
to raise lung volume above FRC, if that elevated lung volume improves lung
mechanics because of the child’s underlying condition. In some infants and children
with moderate to severe tracheomalacia or bronchomalacia, CPAP is also used to
maintain airway patency during exhalation [19].
Pressure support ventilation (PSV) (Fig. 3.3b): is a form of spontaneous breathing in
which the breaths are patient triggered and flow cycled, based on the patient’s respi-
ratory system impedance: once inspiratory flow falls to a predetermined
percentage of the peak inspiratory flow, the ventilator cycles from inspiration to
exhalation [20]. The standard flow cycle variable is set to 25 % of peak flow; that is,
when the inspiratory flow falls to 25 % of peak flow as the lung fills, the ventilator
cycles to exhalation. Some home ventilators, however, (e.g., the LTV® series,
CareFusion, Yorba Linda, CA; the Trilogy ventilator, Respironics, Murrysville, PA;
44 H.B. Panitch
or the HT70, Newport Medical, Costa Mesa, CA) allow the flow cycle level to be
adjusted (between 10 and 40 % for the LTV®, between 10 and 90 % for the Trilogy,
or between 5 and 85 % for the HT70). Each breath is pressure controlled, and the
level of support is adjusted by the clinician based on how much respiratory work is
to be assumed by the ventilator [20]. PSV is typically combined either with CPAP
to unload respiratory muscles while allowing the patient autonomy with respect to
timing of breaths or with intermittent mandatory ventilation to enhance patient
comfort and minimize respiratory work. It is also frequently used to assist with
weaning from mechanical ventilatory support. Since it involves spontaneous venti-
lation, the patient’s respiratory drive must be intact for it to be a useful modality.
Intermittent mandatory ventilation (IMV) (Fig. 3.4): this mode of ventilation pro-
vides a mandatory breath that is time triggered at a rate set by the clinician with a
set volume or pressure. In between mandatory breaths, a source of fresh gas is made
available to the patient to breathe spontaneously. IMV was actually first described
as a feature of a new ventilator for neonates [21], but its use was quickly expanded
to adult patients where it was anecdotally hailed as, among other things, a supe-
rior mode to Control or A/C ventilation for weaning patients [22]. Other modes of
Fig. 3.4 Intermittent mandatory ventilation (IMV). (a) A patient is receiving pressure control
IMV (PC-IMV). Each mandatory (M) breath is delivered based on the rate set by the clinician. In
between mandatory breaths, the patient can breathe spontaneously (S). In this example, there is no
positive pressure assistance for spontaneous breaths. This was the original scheme for IMV, and
weaning occurred by reducing the set rate and allowing the patient to assume more of the respira-
tory work by breathing unassisted. (b) This patient is receiving volume control IMV (VC-IMV),
and pressure support (PSV) has been added to support the patient’s spontaneous efforts. The clini-
cian can choose to alter the pressure limit of the PSV breaths, resulting in tidal volumes that match
the size of those resulting from mandatory breaths
ventilation have alternately been used to facilitate ventilator weaning, but IMV
remains a popular method of ventilator support.
In an effort to avoid unintentional patient-ventilator dyssynchrony and patient
discomfort when the mandatory breath would occur during the patient’s expiratory
phase of the spontaneous breath, synchronized intermittent mandatory ventilation
(SIMV) was developed [23]. In brief, the ventilator uses a timing window to sense
the patient’s effort around the time of a scheduled breath and attempts to deliver the
mandatory breath in synchrony with the patient’s spontaneous breath. In the current
generation of mechanical ventilators, mandatory breaths can be delivered in one of
three timing scenarios: (1) at the set frequency, (2) only when the patient’s sponta-
neous rate falls below the set frequency, or (3) when the spontaneous minute venti-
lation (rate x tidal volume/min) falls below a preset threshold [9]. Various home
ventilators use schemes based on the first two of these three options, often incorpo-
rating a patient-triggered mandatory breath into the scheme in addition to spontane-
ous breaths (LTV® series, Newport HT50 and HT70). In addition, the Newport
HT50 and HT70 ventilators (Newport Medical Instruments, Inc., Costa Mesa, CA)
also have a “lockout window” that prohibits additional mandatory breaths for a
specified time if the combination of machine- and patient-triggered mandatory
breaths exceeds the calculated set rate. Whatever the scheme for synchronization,
current home ventilators that offer an SIMV mode also permit the combination of
SIMV with PSV so that spontaneous breaths can be partially or completely sup-
ported by positive pressure. It is clear that any device that offers either SIMV or
PSV must also be able to supply a continuous flow of gas in between mandatory
breaths; older generation machines like the LP-10 (Nellcor Puritan Bennett, Inc.,
Minneapolis, MN) and Respironics® PLV-100 (Respironics, Murrysville, PA)
required the patient to open a demand valve for an external supply of air or an
H-valve to a reservoir bag for oxygen-enriched air. They permitted the use of an
SIMV mode but did not have a PSV option. While these machines are no longer
manufactured, there are still patients in the community who use them.
Application of Different Modes of Mechanical Ventilation
Once a child undergoes tracheostomy placement to facilitate mechanical ventila-

tion, there is an implication that the cause of respiratory failure is a chronic one. In
an acute setting, efforts are aimed at reducing support with an aim toward liberation
from mechanical ventilation as quickly as possible. In contrast, the focus of home
mechanical ventilation is not to wean the patient from support: rather, it is to provide
adequate support for growth and periods of activity, play, or appropriate develop-
mental interactions [24]. Reduction in ventilator support becomes the natural by-
product of improved health, strength, and in some cases resolution of the underlying
cause of respiratory failure. The choice of ventilator mode must match the patient’s
needs, maximize patient comfort, and, when appropriate, allow for the gradual
shift of respiratory work from the machine to the patient as the disease improves.
46 H.B. Panitch
In contrast, there are some children whose disease trajectory can be expected to be
static or progressive: these children may actually require increased mechanical ven-
tilatory support over time.
A child who requires assistance to maintain FRC or airway patency may require
only CPAP and no other positive pressure assistance. For the child with a normal
respiratory drive as well as either an increased respiratory load or reduced respira-
tory pump function, use of PSV with the required amount of distending end-
expiratory pressure (PSV + PEEP/CPAP) is a reasonable way to provide support.
Some practitioners prefer to provide a low background mandatory rate to avoid
apneas or to simulate a sigh breath to minimize the risk of atelectasis. Here, they set
a low SIMV rate (4 or 5 breaths/min) with a targeted tidal volume of 10–15 mL/kg,
but allow the infant or child a fair bit of autonomy by providing PSV (SIMV + PSV)
to reduce respiratory work and enhance ventilator-patient synchrony. Alternatively,
using a higher SIMV rate but lower pressures with PSV breaths is yet another varia-
tion that can provide adequate support. Use of PSV is not appropriate for patients
with an inadequate respiratory drive: here, mandatory ventilation must be used to
assure adequacy of ventilation and to prevent prolonged apneas.
Children with neuromuscular weakness might be able to tolerate PSV alone, but
if the child is too weak to trigger a breath, or the respiratory load increases (i.e., with
an acute infection, atelectasis or bronchospasm), the modality will provide inade-
quate support. Additionally, a child with diurnal hypercapnia, who has reset his or
her central drive because of chronic hypoventilation, will likely also require manda-
tory breaths to reestablish eucapnia via modest hyperventilation. Weak patients can
do well with A/C ventilation: adequate gas exchange can be guaranteed at rest based
on the settings chosen, yet with excitement or exertion the patient’s increased
demand will be easily met with additional patient-triggered mandatory breaths. As
an alternative, SIMV + PSV can be substituted, but to provide the same degree of
support as the A/C strategy, the pressure control setting of the PSV breath will have
to equal that of the mandatory breath (in PC mode) or be adjusted to provide a simi-
lar tidal volume (in VC mode). The use of SIMV + PSV would be expected to be
more comfortable for the patient, since the duration of the spontaneous breaths is
dictated by the mechanics of the child’s respiratory system. Some children will
prefer A/C ventilation, however, so that patient feedback and preference should
guide the decision of which mode to use whenever possible.
Similarly, there is no universal benefit of choosing to provide mandatory breaths
in either volume control or pressure control mode to children with chronic respira-
tory failure. Fortunately, the current generation of home ventilators can provide
mandatory breaths in either mode. For most patients, the choice between modes will
be based either on local practice or occasionally on patient preference.
There are, however, situations in which one or the other mode will be preferable.
Whenever the situation allows, pediatric practitioners prefer to use the smallest size
tracheostomy tube possible to facilitate speech and minimize the risk of damage to
the tracheal wall [24, 25]. In a child with a large leak around the tracheostomy tube,
the size of delivered tidal volumes in VC ventilation will become highly variable
from breath to breath as the leak waxes and wanes. A child can have minimal leak
and receive adequate support in VC mode while awake but experience profound
hypoventilation when asleep because of excessive leak related to relaxation of pha-
ryngeal musculature [26]. When the leak is large, the volume will be delivered at a
low pressure because of the low resistance across the leak and infinite “compliance”
of the atmosphere: the mandated volume will escape the respiratory system, and
there will be diminished chest wall movement and air entry, resulting in hypoventi-
lation, air hunger, tachypnea, and possibly ventilator-patient asynchrony. An alter-
native to changing the tracheostomy tube to a larger size or to a cuffed tube is to
switch to a PC mode. Here, the ventilator will increase output to provide the level of
pressure set by the clinician, even though flow escapes through the mouth and nose.
The tidal volume will vary from breath to breath with more or less lost to the atmo-
sphere, but the set peak inspiratory pressure will be maintained, and adequacy of
effective ventilation can be preserved [26].
Leaks can affect ventilation in other ways, by exaggerating demand on inspiration
or diminishing the signal for cycling of a breath on exhalation. A large leak around the
tracheostomy tube can cause problems with ventilator triggering when using a flow-
triggered device. Under normal circumstances, the machine monitors flow across the
airway opening, and if it is set to deliver a patient-triggered breath (i.e., the mode is
assist/control or PSV), it will do so when inspiratory flow falls below the trigger level.
If the leak is large, however, the decrease in continuous flow that occurs because of the
flow escaping across the leak is interpreted by the ventilator as a patient’s inspiratory
effort, and the ventilator will deliver the “requested” breath. This can lead to autotrig-
gering of the ventilator, a condition where pressure support or assist/control breaths
are delivered almost continuously despite lack of true patient demand. Ventilator auto-
triggering leads to hyperventilation and metabolic alkalosis and contributes to patient-
ventilatory dyssynchrony. If the leak is moderate, some machines have a leak
compensation option that can accommodate for the problem, or the trigger sensitivity
can be adjusted to compensate manually for the leak and still allow the patient to
receive patient-triggered breaths. If the leak is excessive, however, these interventions
will be inadequate, and the tracheostomy tube will have to be changed to a larger size
or to a cuffed model, or the ventilation mode will have to be changed to one that
excludes patient-triggered breaths (e.g., SIMV without PSV or control ventilation).
In PSV mode, a large leak will also cause problems with cycling of a breath
(Fig. 3.5). Because the PC breath terminates when flow diminishes to a set percent-
age of the peak flow based on respiratory system compliance and resistance, a large
leak will preclude flow from decreasing as the breath is directed out of the mouth
and nose. All ventilators have a backup time limit of 3 s for PSV breaths in case flow
does not slow to the cycle threshold. This is too long for most children and leads to
patient-ventilator dyssynchrony. Some home machines (e.g., the LTV® series, HT50,
HT70) have a backup time termination setting that can be set to limit the duration of
the PSV breath in the event of a large leak and failure of the breath to flow cycle.
In addition to situations in which there is a large leak around the tracheostomy
tube, pressure control ventilation may also be required for very small infants or
those with small lungs as a result of thoracic insufficiency syndrome [27] or
pulmonary hypoplasia, since the smallest tidal volume that can be set on current
48 H.B. Panitch
Fig. 3.5 The effect of a leak on pressure support ventilation (PSV). Under normal circumstances
(solid tracings), a PSV breath cycles to exhalation when inspiratory flow falls to a preset percent-
age of peak flow as the lung fills and the pressure difference between airway opening pressure and
alveolar pressure approaches 0. When a leak is present (dashed lines), however, alveolar and air-
way opening pressures never equalize, and so flow continues across the airway opening into the
atmosphere, never decreasing to the threshold value. Inspiratory time is prolonged: ventilators
have an emergency 3 s limit after which the breath will time cycle. During the prolonged inspira-
tion, children will often exhale against the elevated pressure well before the end of the breath.
These interactions cause patient-ventilator dyssynchrony and contribute to patient discomfort and
inadequate ventilatory support. Several home ventilators allow the cycle threshold to be adjusted
to overcome the effect of leaks or have a time termination backup setting that can be adjusted to
avoid the prolonged inspiration
home ventilators is 40 mL (iVent, GE Healthcare, Madison, WI) or 50 mL (LTV®

series, Puritan Bennett 540, Trilogy, HT70). The HT50 ventilator can be set to
deliver a minimum tidal volume of 100 mL. Furthermore, at smaller tidal volumes
and high rates, some home ventilators will deliver variable tidal volumes in volume
control mode that can be >20 % larger than the intended value [28].
Patients with severe obstructive disease who require a long expiratory time to
avoid the development of dynamic hyperinflation might benefit from volume con-
trol ventilation with a constant flow pattern. For a given inspiratory time, constant
flow can fill the lung faster than flow delivered in a decelerating pattern typical of a
pressure control breath: said differently, the inspiratory time for a given tidal vol-
ume can be shortened by using constant flow at a higher rate (although the peak
inspiratory pressure will also be higher). This will preserve tidal volume but allow
for a longer expiratory time and help to prevent breath stacking and dynamic hyper-
inflation [29].
At present, one home ventilator (iVent 101®) has the capability to provide
mandatory breaths in a pressure-regulated volume control (PRVC) mode. This
mode represents a method of breath-to-breath dual control, where mandatory
breaths are pressure limited and time cycled, and a clinician-set tidal volume is used
for feedback to adjust the pressure limit [12]. The ventilator first delivers a “test
breath” in volume control mode based on the desired (operator set) tidal volume.
The ventilator determines the required pressure and the subsequent breath is deliv-
ered in pressure control mode. The ventilator then assesses the size of the resulting
tidal volume and adjusts the pressure up or down as necessary in ≤3 cmH2O incre-
ments until the desired tidal volume is achieved. If the respiratory system compli-
ance or resistance changes, the ventilator will adjust the pressure up or down to
maintain the desired tidal volume to a maximum of 5 cm H2O below the preset
upper pressure limit. PRVC delivers the desired tidal volume at the lowest pressure
necessary and is useful for patients with rapidly changing lung mechanics who
would benefit from delivery of a stable tidal volume. As such, its use in a stable
home ventilator patient is limited. The mode has been integrated into several bi-
level positive pressure generators, but has been found to be unreliable in delivering
the set tidal volume in situations where unintended leaks are present [30].
Characteristics of Home Ventilators
The first generation of portable home ventilators were piston-driven, fairly large
(weighing about 30–35 lb), delivered breaths in only a volume control mode and
did not provide continuous flow [31]. The machines used a single limb circuit with
an external PEEP valve. Because there was no continuous flow, however, any leak
in the circuit (i.e., around the tracheostomy tube) would result in failure to maintain
a set PEEP. Pressure monitoring was used for the inspiratory trigger. Internal bat-
tery life was limited, and a lead acid battery (i.e., 12 V car battery) was typically
used for portability. Neonates and infants who were too small to be able to use
these machines could be supported with small pressure-limited, time-cycled hospi-
tal ventilators. These machines required a pneumatic source, and so an electric air
compressor had to be used in tandem, making portability impossible. The system
provided continuous flow so IMV could be used, making transition from hospital
to home easier.
First-generation portable ventilators were generally reliable: a study that reviewed
the frequency of home ventilator breakdowns among 150 home ventilator users, of
whom 50 were <21 years old, found that equipment malfunction or ventilator failure
occurred on average a calculated once every 1.25 years of continuous ventilator use
50 H.B. Panitch
[32]. Of those requiring ventilator use 24 h/day, however, about 75 % reported at least
one equipment problem over the year of observation. Because of the recognized poten-
tial for catastrophic outcomes in the event of mechanical ventilator failure, guidelines
recommend that ventilator-assisted individuals who require ≥20 h per day of life sup-
port [24] or children who cannot maintain adequate gas exchange without mechanical
ventilation for ≥2 h [33] have a second (backup) ventilator in the home. These first-
generation machines are still in use in the community and can readily fulfill the need
of patients who do not breathe spontaneously above a mandatory rate and who do not
require a closely maintained level of PEEP to preserve FRC or airway patency.
Most second- and third-generation machines are turbine driven [31]. These
machines are smaller and lighter than first-generation machines (most weigh under
15 lb) and have more external battery options, all of which enhance portability.
They also offer more options like flow triggering, pressure control (in addition to
volume control), SIMV, and PSV. In most models, the PEEP valve is integrated into
the ventilator. Some third-generation machines offer graphics for patient monitor-
ing, as well as an ability to download and print reports on patient use and patient-
ventilator interaction. Trigger sensitivity varies somewhat between models, but in
general is comparable or in some cases superior to that of conventional ICU ventila-
tors [28]. Battery duration also varies widely among different models [28] and is
affected by choice of settings: battery life is shortened when using pressure control
instead of volume control, when setting higher levels of PEEP, and, depending on
the model, when increasing FiO2 [34]. Battery performance is not just a matter of
convenience for portability, but can be lifesaving in the event of a power outage
[35–37]. Recently, a ventilator-associated death was reported in an adult with amyo-
trophic lateral sclerosis because of malfunction of the internal battery, which
resulted not only in ventilator malfunction, but also in a reduction of the ventilator
alarm volume [38].
As noninvasive mechanical ventilation has gained popularity for the support of
children with neuromuscular weakness, restrictive chest wall diseases, and central
hypoventilation syndromes, the equipment used to provide that support has become
more sophisticated and the distinction between “bi-level pressure generators,” also
known as “respiratory assist devices,” and ventilators has blurred. Sometimes,
machines intended for noninvasive use have been used via tracheostomy, and sev-
eral portable ventilators designed to be used via tracheostomy also have a noninva-
sive mode. The US Food and Drug Administration (FDA) classifies devices based
upon where they are used (facility versus home) and their intended use (“full” or
“life” support device versus continuous or noncontinuous, nonlife-supporting
device) [39]. Factors including the underlying condition, amount of ventilatory sup-
port required, need for alarms or battery backup, local custom, and reimbursement
will guide or determine the type of machine that can be used for a given patient.
The improvement in ventilator design of second- and third-generation portable
ventilators over first-generation machines is in large part attributable to integration
of microprocessor monitoring of ventilator output and patient response. The added
complexity of the machines increases the risk for ventilator malfunction, but in the
absence of a registry of ventilator-associated individuals, the incidence of serious
ventilator-related complications remains unknown. King accessed the FDA

Manufacturer and User Facility Device Experience (MAUDE) database and found
>150 home mechanical ventilation malfunctions or failures in the United States in
2010 [39]. A recent European review of ventilator-associated problems in the home
is more difficult to extrapolate to children requiring home ventilation via tracheos-
tomy, as the number of individuals receiving chronic mechanical ventilation via
tracheostomy represented only 1 % of 1211 patients, and only 12 % of the popula-
tion studied required continuous mechanical ventilation [40]. The authors noted,
however, that the likelihood of ventilator malfunction was relatively small (28 % of
>3000 calls received over a 6-month period) but increased if the ventilator was
>8 years old, if it was a model newly introduced on the market, or if the user required
≥16 h/day of use. The two most common causes of ventilator malfunction included
bellows or blower failure or a problem in the circuit board. Ventilator function was
also impaired if water entered the pressure lines, a problem that could be circum-
vented with the use of a filter.
Complications of Invasive Home Mechanical Ventilation
Care of a child who requires chronic mechanical ventilation is complex, and caregiv-
ers require specialized training to maximize patient safety and desired outcomes [24].
The presence of a tracheostomy adds complexity to that care and requires that care-
givers learn an additional skill set related to care and assessment of the tracheostomy
[25]. Potential complications directly related to the tracheostomy include inadvertent
displacement or obstruction, swallowing dysfunction and increased risk of aspiration,
increased risk of lower respiratory tract infection, creation of a false tract, granuloma
formation at the tracheostomy site, acquired tracheal stenosis or suprastomal tracheo-
malacia, traumatic creation of a tracheo-innominate or tracheoesophageal fistula, and
development of a chronic tracheocutaneous fistula following planned decannulation
[41–43]. The presence of a tracheostomy necessitates additional equipment, includ-
ing a heater/humidifier or heat/moisture exchanger (artificial nose) to prevent airway
cooling and inspissation of secretions, suction equipment, and additional monitoring.
In some regions, the standard practice is to provide skilled nursing care for at least
8 h if a child has a tracheostomy and cannot call for help or correct a problem so that
parents can sleep but still have their child visually monitored.
Portable ventilators have built-in alarms to detect low pressure or patient discon-
nection, apnea, low minute ventilation or low tidal volume, high pressure, high tidal
volume, high minute ventilation, low battery, and power failure. In the presence of
a large leak around the tracheostomy tube, problems with false apnea or low minute
ventilation alarms can arise, even when the alarms are adjusted to their lowest
settings. Efforts should be made to diminish the leak rather than to turn off these
“nuisance” alarms, as they represent important backup systems for identifying inad-
equate ventilatory support.
52 H.B. Panitch
Reliance on ventilator alarms alone to detect inadvertent decannulation or other

problems, however, could prove disastrous. Using a lung model and simulations of
low, medium, and high tidal volume settings, Kun et al. demonstrated that home
ventilators failed to alarm if the low-pressure alarm was set 10 cm H2O below peak
inspiratory pressure using tracheostomy tubes with inside diameters ≤6.0 mm or
with low and medium settings when the tracheostomy tube inside diameter was
<4.5 mm, and the low-pressure alarm was set 4 cm H2O below the peak pressure
[44]. Further, the same group subsequently identified several misconceptions that
primary caregivers had regarding their ability to rely on alarms to detect either inad-
vertent decannulation events or episodes of mucous plugging in children receiving
positive pressure ventilation via tracheostomy [45]. These findings underline the
need for those who care for children reliant on positive pressure ventilation via
tracheostomy at home to be vigilant, well trained, and prepared [46].
Outcomes of Children Supported by Positive Pressure

Ventilation via Tracheostomy
Survival of children with chronic respiratory failure who require positive pressure ven-
tilation via tracheostomy is generally good. Nineteen single center reports involving a
total of 621 children followed for 4.5–25 years describe a survival incidence of 57–100 %
and liberation from mechanical ventilation in 0–52 % (see [47] for a table of individual
studies). Similarly, the average 5-year cumulative survival calculated from 14 series
involving 265 patients was ~85 %, with a mean duration of follow-up of 3.3 years [48].
The presence of a tracheostomy, however, increases the risk for death or cata-
strophic central nervous system injury, even after a child has been liberated from
mechanical ventilation. A comparison of the incidence of tracheostomy-related acci-
dents between hospital and home care in the early 1980s showed that the rate of
accidents in home care was eight times greater than the rate in the pediatric ICU (2.3
versus 0.3 accidents per 10,000 patient days, respectively) [49]. In one early report of
invasive home mechanical ventilation, Schreiner et al. noted that 30 of 101 patients
followed over 18 years died [4]. Six children, including four of eight deaths reported
after 24 months of chronic mechanical ventilation, died from airway-related acci-
dents including inadvertent decannulation, unsuspected tube obstruction, or acciden-
tal disconnection from the ventilator. Furthermore, three of the five children who died
at home had been liberated from mechanical ventilation but were still tracheostomy
dependent because of subglottic stenosis. More recently, Edwards et al. reported that
47 (21 %) of 228 ventilator-dependent patients followed over 22 years died: of these,
9 (19 %) deaths were directly attributable to tracheostomy-related accidents [47].
Outcomes of children receiving positive pressure ventilation via tracheostomy
are, at least in part, influenced by the child’s underlying condition. The wide range
of reported survival and liberation percentages in part reflects the characteristics
of the center populations being treated: a program that treats a high percentage of
children with neuromuscular disease will have a lower proportion of children who
are liberated from mechanical ventilation, whereas a center with a large number of
children with chronic lung disease of prematurity will have a much higher propor-
tion of children who can wean completely from mechanical ventilation.
In a retrospective review of children who were ventilator dependent via trache-
ostomy and discharged from Great Ormond Street Hospital over a 7-year period,
15 (38 %) of 39 children were able to wean from mechanical ventilation whereas
7 (18 %) died [50]. Of those who were able to be liberated from mechanical venti-
lation, 12 (80 %) had a combination of chronic lung disease and airway disease. In
contrast, those who continued to require ventilatory support were more likely to
have an underlying neuromuscular disorder. Among a population of 35 children
with congenital heart disease who required positive pressure ventilation via tra-
cheostomy followed at Children’s Hospital Los Angeles over 15 years, 23 (66 %)
were alive at the time of analysis [51]. Of those, 8 (23 %) had weaned from
mechanical ventilation, 10 (28 %) required continuous mechanical ventilation, and
5 (14 %) used only nocturnal mechanical ventilation. The authors stratified patients
by complexity of their underlying heart disease and surgical repair using the Risk
Adjusted Classification for Congenital Heart Surgery (RACHS-1). Only those
with relatively less complex disease, as reflected by a RACHS-1 score ≤3, were
able to wean from ventilation. In contrast, 8/9 (89 %) of those with a RACHS-1
score ≥4 died. The 5-year survival for those with a RACHS-1 score ≤3 was sig-
nificantly greater than that of children with a RACHS-1 score ≥4 (p < 0.001).
To explore how much the characteristics of the underlying disease influenced out-
comes, the same group of investigators looked retrospectively at the courses of 228
patients who were supported with positive pressure ventilation via tracheostomy over
22 years (990 patient years) at their institution [47]. Of the group, 41 (18 %) were
liberated from mechanical ventilation and 47 (21 %) died. The cumulative 5-year
incidence of survival for the entire cohort was 80 % (73 %–85 % CI). As previously
noted, a diagnosis of chronic lung disease was significantly positively associated
with likelihood of liberation from mechanical ventilation compared with diagnoses
of respiratory pump weakness or abnormal central drive. Of the 47 patients who died,
the cause of death was ascribed to natural progression of disease in only 16 (34 %);
9 deaths (19 %) were associated with tracheal bleeding, tracheal obstruction, or other
tracheostomy accident, while no death was associated with ventilator malfunction.
There was no relationship between underlying cause of respiratory failure and short-
ened survival. Approximately 50 % of the deaths were unexpected. The authors spec-
ulated that those deaths not related to progression of the underlying disease were
likely associated with non-pulmonary comorbidities that their patients had.
Conclusion
Positive pressure mechanical ventilation via tracheostomy remains an important

component in the armamentarium of therapies for children with chronic respiratory
failure. Improvements in equipment have resulted in more options for the practitio-
ner to enhance patient comfort and portability while maintaining a high degree of
machine reliability. The practitioner must be aware of the effects that the
54 H.B. Panitch
tracheostomy tube can have on ventilator output and how to compensate for them,
especially when leaks around the tracheostomy tube compromise ventilation or
patient-ventilator synchrony. Care must be taken to ensure that home caregivers are
skilled not only in ventilator management and assessment, but also in the care of the
tracheostomy tube and airway. When all of these issues are addressed, outcomes of
children with chronic respiratory failure who receive invasive mechanical ventila-
tory support can be maximized.Acknowledgement The author thanks Julian
L. Allen, MD for his critical review of the manuscript.
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Chapter 4
Ethical Considerations in Chronic Invasive
Mechanical Ventilation in Pediatrics
Walter M. Robinson
Introduction
Placement of a tracheostomy with the intent of chronic ventilation is a momentous

decision in a child’s life, but it can seem to be a routine clinical decision from the
viewpoint of the physician. Physicians and other healthcare providers are used to
looking at clinical decisions from the standpoint of damaged physiology and
possible technology; we assess whether things are “indicated” by looking at the
physical variables such as blood gases, radiograph scans, work of breathing, and so
on, and for most clinical decisions, this is the most appropriate way to proceed. But
with momentous decisions like the institution of chronic invasive mechanical venti-
lation, physicians ought to step back and examine the wider context in which their
decisions take place, examining their own motivations, institutional pressures, fam-
ily dynamics, and the influence of their decision on future decisions faced by the
child and family.
There is no doubt that the ability to provide chronic ventilation has been a boon
to children and families. Dramatic advances in the ability to provide safe, effective,
and portable ventilation over the past three decades have increased the number of
children who not only survived but thrived outside of institutional environments.
Children who would otherwise have died have been saved by advances in care for
those with chronic respiratory failure. But as with most technologies which at first
seemed miraculous and then became mundane, there are a host of assumptions
W.M. Robinson, M.D., M.P.H. (*)

Vanderbilt University School of Medicine, Nashville, TN, USA
e-mail: wmacr@mac.com

58 W.M. Robinson
about the institution and maintenance of children dependent on these technologies

that ought to be examined. In many cases the institution of chronic mechanical ven-
tilation has begun with high hopes for both the survival and quality of life of the
child and for the family’s ability to integrate the technology-dependent child into
the home. The success stories abound.
But behind this triumphal view of technology lies a more complex set of
decisions and influences that ought to be part of the initial consideration of
long-term mechanical ventilation. Those of us who are clinicians know the suc-
cess stories, but we also know the failures. We are well aware of children who
were not able to be cared for at home, who did not develop in the manner
expected, whose relational ability with their caregivers is minimal, and yet are
maintained by chronic ventilator technology, usually in an institutional setting.
These children survived, but they did not thrive. The fact that not all decisions
to institute chronic ventilation are successful is not a reason to avoid the practice,
but it is a reason to examine the set of practices that surround the initiation and
maintenance of chronic ventilation. We cannot perfectly predict the future, but
we can learn from our experience. We can use our experience to better under-
stand challenges that children and families will face and to change both indi-
vidual and institutional practices to move toward better outcomes for children
and families.
Before Consent
There are three questions with ethical implications to be asked and answered before
seeking informed consent to initiation of chronic invasive mechanical ventilation in
a child, as shown in Table 4.1.
Table 4.1 Before informed consent: three questions with ethical implications that should be asked
and answered before seeking informed consent for initiation of chronic invasive mechanical
ventilation
1. Is chronic invasive mechanical ventilation for this child a bridge or a destination?
2. What role are institutional factors, such as freeing up an intensive care bed or insurance
coverage, playing in the timing of the decision or the rejection of potential clinical
alternatives?
3. Have plans for psychosocial, financial, and clinical support been established prior to the
decision to begin chronic mechanical ventilation and are such support systems now in place
in the community where the family lives?
4 Ethical Considerations in Chronic Invasive Mechanical Ventilation in Pediatrics 59
Bridge or Destination?
There are two broad categories of children who are considered for chronic mechani-
cal ventilation, those for whom ventilation is a bridge and those for whom ventilation
is a destination. In children for whom ventilation is considered a bridge, survival on
mechanical support will be temporary, even though it may last for many months or
even years, in the expectation that there will be either maturation of lung tissue or
healing of an existing pulmonary insult. In children for whom ventilation is consid-
ered a destination, there is no expectation that developmental changes or healing will
free them from the ventilator; these children have permanent neurological or pulmo-
nary conditions which mean that survival will require mechanical ventilation.
Making this distinction is sometimes easy. Children with neuromuscular condi-
tions resulting in respiratory insufficiency and failure fall clearly into the destination
group, while children with lung injury secondary to prematurity are more likely to
fall into the bridge group. The distinction is not based solely on the clinical condi-
tion of the child at the institution of mechanical ventilation; many factors cited in
other chapters of this text should be taken in account when considering the distinc-
tion between bridge and destination situations.
Clarity about the distinction is ethically important in order to avoid false prom-
ises to the parents. It seems to be part of human nature for most parents to hope for
miraculous improvement in their child, but as physicians with experience in the lives
of many children, we know otherwise. Children do miraculously improve, but as
clinicians we cannot depend on miracles, and part of the skill of managing chronic
illness is for the clinician to balance his or her own sense of hope and reality. Parents
achieve this balance in different ways, but it is inappropriate for physicians to
deceive themselves or parents by encouraging false hope. A better practice is to
encourage realistic hopes for connection with their child, for the delight of parenting
in spite of the presence of mechanical ventilation, for the mutual joy that parents and
children give each other even in the face of serious and debilitating illness.
For some children, making the distinction between bridge and destination will
be difficult. Children who have had a primary lung injury can in many cases show
remarkable ability to heal and so progress to independence from mechanical venti-
lation. Yet the child we expect to heal may not. The vocabulary here is a bit difficult
to navigate for both families and clinicians: “temporary chronic” mechanical venti-
lation may become “permanent chronic” ventilation. Clinicians should be careful
not to over-promise healing but instead should emphasize that the path toward
removal from mechanical ventilation is a known one, with signposts along the way.
What Is the Role of Nonclinical Factors in the Decision?
Once the distinction between bridge and destination ventilation is clear in the mind
of the clinicians—and this includes not just the clinicians in the intensive care unit
but those who have expertise in managing long-term ventilation in other settings—
then a second set of questions should be addressed before the process of informed
consent can begin.
60 W.M. Robinson
Clinicians must ask themselves in an honest and careful way to what degree
factors that are external to the case at hand are influencing the decision to institute
mechanical ventilation. Three important factors to address are the understandable
need to free up intensive care bed spaces, pressure from third party payers to move
the child to a less expensive location for care, and frustration with the pace of
improvement of the child in an intensive care setting. Each of these factors can play
both legitimate and illegitimate roles in making the decision, and so the issues need
to be honestly parsed by those in charge of the care of the child.
First, the need to free up bed space in an intensive care unit is entirely under-
standable in an environment of restricted resources. Managing scarce resources,
such as the time, space, and energy of an intensive care unit, is part of providing
ethical care to a community. But pressure to free up a bed space should not be
allowed to unduly influence the decision to place a tracheostomy and begin chronic
ventilation in a particular child. Part of being an ethical physician is being transpar-
ent to oneself and others about the competing goals of clinical care; clinicians have
duties to the patient in front of them as well as to other patients, even ones they have
not yet met. The worst way to address these competing goals is to do so only on a
case by case basis; the best way is to have a flexible but predetermined process for
making decisions when the duties to different patients conflict. In any intensive care
unit, balancing the needs of various patients is a constant obligation, and rather than
making such decisions in a fully ad hoc way, clinicians should develop procedures
for addressing these conflicts in a way that involves more than just the clinicians at
the bedside. We cannot treat all patients exactly the same, nor would we want to, but
we should strive to as much clarity of purpose as can be achieved.
Second, the desire to limit unnecessary expenditure in the American healthcare
system often falls to the third party payer system and that system can wield a blunt
instrument in individual cases. Pressure may be brought on the bedside clinicians to
institute tracheostomy and mechanical ventilation so that the child can be trans-
ferred to a less expensive care setting. As with the natural duties to multiple patients,
clinicians can manage this conflict best by transparency and planning. Not all pres-
sure to reduce the cost of care is unreasonable, even if that pressure is instituted by
those with no connection to an individual patient. But making the decision for tra-
cheostomy and mechanical ventilation solely for financial reason is ethically wrong.
Management of resources, including financial resources, is another part of the
physician’s obligation to the community of patients and that pressure is best man-
aged as a team, with clinician colleagues who are not involved in the care of the
individual patient and who can help the individual clinician recognize the pressures
to reduce costs for what they are, simply one aspect of many in the appropriate care
of the child and family.
Third, clinicians must recognize their own psychological pressures that may play
a role in the decision to institute mechanical ventilation. Physicians are asked to
bear the psychological burden of the illness of many children, and for many the suc-
cesses are well worth the hard work. But many of us can fall into a psychological
view of our work that valorizes our ability to rescue a child over all other aspects of
care. Especially in intensive care, where the rescues can be dramatic, clinicians may
become frustrated with children for whom cure is not possible or who make only
slow progress. Children who are candidates for chronic mechanical ventilation can
be seen from this point of view as failures of the clinician’s attempt to rescue a sick
child. Unconscious anger at our perceived failures and frustration with the slow
progress of the child can lead us to avoid contact with the child and family. Some of
this anger and frustration may lead us to suggest chronic mechanical ventilation
sooner than we otherwise might. Recognizing and managing these reactions to our
work is part of becoming an ethical physician. Just as we best manage our reactions
to “difficult patients” by recognizing them and processing them consciously, we
ought to examine our own reactions to the child for whom cure is not possible or for
whom improvement will be slow. In many cases, those who provide care for chroni-
cally ventilated children are self-selected to tolerate this pattern of slow or no
improvement, and their input in making decisions about ventilation can be a crucial
step in helping the more cure oriented of us make decisions with the best interests
of these children and families in mind.
Are Community Supports in Place?
It may seem that the decision to begin chronic invasive mechanical ventilation is a
function of the child’s clinical status at the time, but success depends on many fac-
tors which are independent of the child’s clinical condition. The presence in the
community of sufficient resources to support the child and family is a necessary
precondition for chronic invasive ventilation. Often the funding, function, and exis-
tence of these resources lie outside the expertise of the physician making the deci-
sion to insert the tracheostomy and begin ventilation. Yet the existence and quality
of these resources are part of the responsibility of those who recommend long-term
ventilation; the physician is making an explicit and implicit set of promises of how
life will go for the child if the plan for ventilation is instituted, and knowledge of the
good and bad aspects of the available care outside the hospital is a large part of
being able to make such promises in good faith.
A plan for chronic ventilation in the complete absence of community support is
an unethical plan for the child and family. We may imagine that a heroic family
can manage without such supports, but an honest assessment of our experience
would tell us otherwise. This is why the involvement of clinicians with experience
in the care of the chronically ventilated child in the community is an essential part
of the initial decision. These physicians should know what the benefits and bur-
dens of the existing support for the clinical, psychosocial, financial, and respite
care needs of the family are in the community in which the family lives. Providing
an accurate picture of the available support is part of avoiding the encouragement
of false hope in the family. Knowing that accurate picture may influence the clini-
cal options for the child and family and may increase awareness of hospital-based
clinicians of the need to develop community-based resources so that chronic
mechanical ventilation is an honest and transparent option that can be offered to
parents in good faith.
62 W.M. Robinson
Table 4.2 The informed consent process: two special aspects of informed consent process for
chronic mechanical ventilation
1. Have the clinicians who will provide long-term care to the child and family had sufficient
meetings with the parents prior to the decision?
2. Has an experienced clinician had a discussion with the family regarding the constraints that
placing the tracheostomy now may place on future decisions to discontinue mechanical
ventilation?
The Informed Consent Process
Now that the clinicians have asked and answered the preliminary questions about
the decision, the formal process of informed consent can proceed. Questions with
special ethical implications that should be asked and answered as part of the
informed consent process are listed in Table 4.2.
Parents are expected to provide informed consent to the institution of a tracheos-
tomy and mechanical ventilation, but what does informed consent mean in this con-
text? In some clinical situations, such as the trial of a new medication, parents are
asked to approve a treatment which can be reversed, usually without permanent
change in the child’s health. In other clinical situations, such as surgery for a com-
pound fracture, informed consent means that the parents understand the risks of the
surgery and the likely trajectory of the recuperation, but also that the procedure is
irreversible.
In chronic mechanical ventilation, informed consent has to include the parents’
understanding not only that there are proximate risks of the surgery to place the
tracheotomy, but that the recovery of ventilatory independence, if any, has an uncer-
tain trajectory; that there will be an almost certainly heavy burden of caregiving for
the child; that there will be a likely considerable financial and emotional toll on
them and their family members; that the care of mechanically ventilated child in
their home will change the nature of family life; and that the decision to place a
tracheostomy now may constrain their decisions about removing the ventilator in
the future, should they decide that the burden of mechanical ventilation outweighs
the benefits for their child. Because of these complex and uncertain factors, the
informed consent process needs to be especially deliberative, transparent, and
reflective.
One mistake that is easily avoided is the decision not to discuss these issues,
either on grounds that the outcomes are uncertain or that the family cannot stand the
emotional or cognitive complexity of the discussion. These issues must be discussed
with the family, or informed consent simply has not been obtained.
As to the question of outcomes, it is true that the outcome for this particular child
is uncertain: we cannot know the future. But we know what has happened with other
similarly situated children and families, and we can make educated assumptions
about how things will go with this particular family. We know the past experience
of other families, or we ought to, and we have a duty to use this experience to guide
families making decisions today.
If we judge that a family cannot withstand the necessary discussion of the possible
outcomes, then we ought to take the time and energy necessary to explain it in a
manner and setting in which they can understand. In contrast to many medical deci-
sions, this decision is not an emergency. It is a decision about a chronic treatment
with long-term implications, and it will take time to explain it. If a family rejects this
discussion on the grounds that it is too taxing or emotionally fraught, serious consid-
eration should be made of the family’s ability to manage the medical care of this
seriously ill child. A family need not have the same moral and spiritual outlook as
the physicians for this to be the case. For example, many families may see God or
some other divine presence as crucial in their decision, but the clinician should be
wary of the family who refuses to understand their own part in the work to come.
Of special importance in the informed consent process is the assessment by the
clinicians of the options facing the family. Parents with a child who is a candidate
for chronic mechanical ventilation may see no other options, but it is the duty of the
clinician to be clear about a particular option, palliative care. The option of pallia-
tive care should be made in an earnest and sincere manner, avoiding the description
of this option as “giving up” or “doing nothing.” Clinicians who are unfamiliar with
palliative care should provide access to experts in palliative care for the family. The
best option is for those experts to work in concert with the exiting clinical team in
order to integrate palliative approaches to care and provide a smooth transition for
the family. Again, as with the discussion of the role of rescue above, clinicians must
be aware of their own biases and frustrations. Seeing palliative care as “giving up”
and transmitting that view in some way to the family inappropriately limits the fam-
ily’s options. The choice not to pursue chronic mechanical ventilation, with the
eventual death of the child in comfortable and safe surroundings, should always be
discussed. It may take special skill and experience to have this discussion with the
family, but there is no excuse for avoiding it altogether. Many families may depend
on the skilled clinician to bring up difficult issues which are weighing on their
minds, and so it is inappropriate to wait for the family to bring up the option of pal-
liative care. Families may also be waiting for permission to discuss this option, and
a clinician avoiding the topic may communicate a moral disapproval of the family’s
options which is inappropriate and unethical. It is simply a fact that many parents
will have consciously or unconsciously wished for their child’s suffering to be over,
and they may also have been shocked that they even briefly wished for their child to
be liberated from a difficult life. Families may express this in spiritual terms by say-
ing that the child “belongs in heaven” or that the child has “suffered enough.”
Clinicians should be alert to this sort of statement as an opening to discuss the
option of palliative care with a compassionate and open frame of mind.
Another essential aspect of the informed consent process is the involvement of
the clinical care team that will provide chronic care for the child and family. Not
only are these clinicians the most educated specialists about the options for care, but
they are especially aware of the benefits and burdens of chronic ventilation as they
play out over the life of the child in the months and years to come. A family’s faith
in this clinical team is an important aspect of the outcome of the decision to pursue
ventilation, and their presence and expertise should be sought as early as possible in
64 W.M. Robinson
the informed consent process. These clinicians are likely to have valuable expertise
in determining the bridge vs. destination distinction in borderline cases, and they
can bring to the informed consent process a wealth of experience-based wisdom and
information that can be invaluable to the family. This experienced team, if they are
given enough time to do so, can help assess the likely struggles of the individual
family with the decision and help the current clinicians individualize the consent
process.
Finally, families need to know as part of informed consent that the placement of
a tracheostomy and chronic ventilation now may constrain their ability to decide to
remove the therapy later. This is a complex topic, and some background information
is necessary.
The current ethical consensus in the United States in pediatrics is that families
have the right to refuse treatments for their child if the benefits of the treatment are
outweighed by the burdens of the treatment, even if that treatment is life sustaining.
There are limits on this right, such as the necessity of clinicians to recognize whether
the parents’ assessment of the benefits and burdens is reasonable and that the par-
ents have the best interests of the child in mind in making the decision. If parents
decide that placement of the tracheostomy and chronic ventilation is too excessive
a burden given the potential benefits, they will in almost every case have the right to
make the decision not to proceed, even if some clinicians disagree. This is in part
because the burden of placing the tracheostomy is regarded as sufficiently high, but
this is a judgment based in part on the idea of being able to refuse surgery and on
the societal view of being dependent on a machine for survival. That societal judg-
ment about the relative burdens of the treatment may change once the tracheostomy
has been placed.
Most medical ethicists, especially those with a more philosophical bent, argue
that removing a therapy in place is ethically identical to the decision not to insti-
tute the therapy; this is the foundation of the assumed lack of ethical distinction
between withdrawing a treatment and withholding it. Clinicians are used to
withdrawing mechanical ventilation in the intensive care unit, and the boundaries
of making the decision to remove the ventilator are fairly well developed. In most
cases the decision to treat removing a therapy and withholding it as ethically iden-
tical will raise no concerns. But the removal of ventilation from a patient with a
tracheostomy who is otherwise medically stable on the grounds of the ventilation
being a burden out of proportion to the benefits is a rarer event, and may raise
concerns from clinicians.
Part of the issue may arise from the invasive status of the tracheostomy. One
reason for placement of the tracheotomy, of course, was to lessen the burden of
chronic ventilation. The patient becomes used to the tracheostomy tube, and the
physical burden of the tube likely lessens over time. Living on a ventilator with an
endotracheal tube either nasally or orally placed is far more burdensome (and far
less clinically successful, of course) than being on a ventilator following tracheos-
tomy. After all, the child with a tracheostomy can be on a ventilator at home,
whereas the child with a nasal or oral endotracheal tube must remain in an institu-
tional setting.
Over time, we may come to see the burden of being on the ventilator as bearable,
but the child is still dependent on and connected to a machine, even though the bur-
den of that machine seems to be easier once the tracheostomy is in place. Additional
treatments that would be burdensome for another child might be seen as less bur-
densome for the ventilated child, who already has endured multiple medical proce-
dures and invasive therapies. We clinicians might thus become more comfortable
with aggressive and invasive therapies in a chronically ventilated child than we
would in other children. We also might come to believe that the burden of the treat-
ment is zero for the child accustomed to it.
We should pause to consider the implications of this possible desensitization. We
have to be careful not to accept a higher degree of suffering for a child simply
because the child has undergone burdensome treatment in the past; we should not
casually or lightly continue invasive procedures just because the child is used to
them. If we adopt that point of view, clinicians are at risk of minimizing the burden
of the intervention and so being less likely to allow parents to stop the treatment.
In part this consideration harkens back to the distinction between the use of
mechanical ventilation as a bridge or a destination. If we institute ventilation as a
bridge, in the expectation of recovery, and that recovery does not occur, then we
ought to allow discontinuation of the therapy. If ventilation is considered a bridge,
then the methods and pathways to discontinuing it if the outcome is not as expected
ought to be discussed with the parents as part of the process of informed consent.
This puts chronic mechanical ventilation on the same ethical footing as other inva-
sive therapies with substantial side effects that are put in place for a seriously ill
child. Part of the consent process should include a discussion of what will happen if
the therapy is unsuccessful.
In children for whom mechanical ventilation is considered a destination, discussion
of removal of the ventilator at some time in the future is still important, even though
the outcomes of the therapy are viewed in a different way. Parents who agree to life-
long mechanical ventilation are not agreeing to the therapy come what may. There may
be many instances in the life of the child and the family where circumstances have
changed the balance of benefits and burdens, and we must be open to that possibility.
To put it a different way, there appear to be several “natural” moments in the
trajectory of a child with life-threatening lung disease; one of these moments is
before the placement of a tracheotomy. At that “natural moment,” it is easier to say
no to the treatment than it will be at other moments. Another such natural moment
would be the development of additional organ failure, such as the need for a cardiac
transplant or for dialysis. These “natural moments” are of course not natural at all,
that is, they are not functions of human physiology but of the state of technology
and medicine. As technology advances, the moments shift; what was once experi-
mental and burdensome becomes routine standard of care.
But parents may not recognize these moments, or they may have other moments,
other special times when reassessment of the burden and benefit of care is to them both
warranted and necessary. Part of the informed consent process is to tell parents about
these moments for the physicians and invite them to share the sort of moments for reas-
sessment that might occur to them. Discussion of these issues is difficult but necessary.
66 W.M. Robinson
Finally, the informed consent process must involve an explanation of the work that
will be expected of the family in caring for the ventilator-dependent child. Other chap-
ters in this text address that burden in detail, but for the purposes of informed consent,
it must be part of the discussion. The lives of everyone in the family will be changed
in both positive and negative ways, and the informed consent must at least gesture
toward a real description of that work. Parents at this stage may be in the mindset of
doing everything for their child—they often use the analogy of being willing to “step
in front of the bus” to save the child—but the work of caring for a ventilator-dependent
child is less heroic and unending. It may be impossible for anyone to know what they
are agreeing to, but as clinicians with experience, we ought to explain as best we can.
During Chronic Care of the Child and Family
Ethical issues do not disappear once informed consent has been obtained and the
therapy instituted. In addition to all the usual everyday ethical issues that are
involved in the care of any chronic illness, chronic ventilation raises four particular
issues of an ethical nature, as listed in Table 4.3.
First, for those children for whom ventilation was instituted as a bridge, there is the
difficult issue of managing the natural frustration on the part of the family that progress
toward decannulation, and respiratory independence has not been faster. No matter
how well things are going, families want things to go better and faster. Disagreements
about progress or the lack of it can raise substantial trust issues between clinicians and
parents, and the accusation of broken promises can be made in anger or frustration.
Parents may want to switch physicians, may shop around for the perfect home care
company, or may act in other ways that are inadvertently against the best outcome for
the child because of the combination of exhaustion and the stress of caring for the child.
Clinicians should be alert to the possibility of these events coming and try to head them
off. Preparation can forestall disagreements that escalate into ethical struggles.
Second, for children in whom chronic ventilation was instituted as a destination,
families and patients may experience some delayed grief at the new limitations on the
child’s life. The therapy that improved ventilation may have at the same time taken
away other important aspects of the child and family’s quality of life, such as decreas-
ing the ability to communicate or limiting family travel together. The quality of life
Table 4.3 During chronic care: four questions with ethical implications that should be asked and
answered on a regular basis during the care of the child on chronic invasive ventilation
1. For “bridge” children, what are the milestones of progress, if any, toward independence
from mechanical ventilation?
2. For “destination” children, how has quality of life changed since the institution of invasive
ventilation?
3. What is the impact of the child’s chronic ventilation on other family members?
4. What effect, if any, is the lack of progress having on the clinicians’ relationship with the
family?
may decrease even though the quality of breathing improved. Parents may express this
grief in many ways, such as nonadherence to the clinical regimen or isolation from the
clinical team. Clinicians should be especially alert to changes in outlook once families
and patients have become accustomed to the new normal of life on a ventilator.
Third, as pediatricians and pediatric clinicians, we have an ethical duty to the
whole family and not just the one sick child. The impact of a ventilator in the home
on the healthy family members is well discussed in Chap. 9, but from an ethical
standpoint, it would be wrong not to make some attempt to assess and manage the
predictable reactions of family members to the medicalization of the home.
Finally, there is one important ethical issue that is often overlooked in the care of
a seriously ill child at home. In many cases, moving the child to a home setting will
recast the moral responsibility for the child’s progress or lack thereof to the family.
Unfortunately, we clinicians can develop an unconscious tendency to attribute set-
backs in care to a failure to follow our carefully conceived care plan. In contrast to
the hospital setting where our successes are our own and failures are often considered
unavoidable, failures at home tend to be seen as the fault of the parents. Clinicians
can decide, justified or not, that lack of progress once the child is in a home setting is
a function of parental inability or unwillingness to carry out the complex care.
This is simply human nature at work. We want to reward parents who do an
excellent job of taking care of their ventilator-dependent child at home, because this
is an extremely difficult job. But the flipside of that is that we might blame the par-
ents (subconsciously or not) for setbacks in the child’s care once they are at home.
In a sense this shifts the moral responsibility for the outcome to the parents, in a way
that the physicians and nurses did not bear when the child was in the hospital. To do
so is unfair to the parents and can lead to judgmental decisions by the care team
when compassion and patience are the better paths to follow. Routine discussion of
our affective responses to chronically ill children and their families, in a safe and
“backstage” location, can help us reset our expectations and look for solutions to
problems that do not involve placing moral blame on parents for the illness of their
child. Such routine discussion can also help to identify misunderstandings with par-
ents and is good practice for the promotion of “preventive” ethics.
Special Considerations in Special Populations
Two particular populations bear special mention in consideration of the ethical

issues involved in chronic invasive ventilation: the first is teenagers with intact
cognition and the second is infants with severely damaged cognition (Table 4.4).
Table 4.4 Two populations with special ethical

considerations in the decision to institute mechanical
ventilation
Teenagers with intact cognition
Infants with severe cognitive and/or sensory deficits
68 W.M. Robinson
Teenagers with Intact Cognition
Teenagers make up a small but important subset of patients for whom chronic ven-
tilation is begun during the pediatric years. As discussed in Chap. 14, the primary
indication for ventilation in these patients will be neuromuscular conditions, most
of which are progressive. From an ethical point of view, this will mean that the
teenager will be part of the decision to consider chronic ventilation. The presence of
the patient in the discussion means that the process of informed consent must be
tailored to address his or her needs for information, privacy, and control. In many
cases the discussion may come at a time when the progression of the disease is
increasing dependence at exactly the developmental stage when independence is
most treasured by adolescents. Many of these teenagers may already have substan-
tially compromised physical independence, and the introduction of the ventilator,
with the potential to alter speaking fluency, may remove an important means of
asserting individuality. Other teens may have a decreased level of mobility which is
further compromised by the addition of the ventilator, necessitating changes in the
all important social sphere of life at this developmental stage.
Making a difficult decision with healthy adolescents is challenging enough, but
making decisions with dependent and chronically ill adolescents can be especially
challenging. Discussion of the care burden for the family may mistakenly give the
teen the sense that his existence is a burden rather than his care, and discussion of
the option of palliative care may be especially difficult, but all of these discussions
are ethically necessary if true informed consent is to be obtained. Some teens may
defer certain parts of the decision to their parents; others may want to be in every
meeting but not participate; others may want to run every meeting and ask every
question. Again, flexibility and patience are the keys to a successful informed con-
sent. Regardless of the teen’s approach, they should be involved in the discussion of
the options in a manner that suits their wishes. Just as we do not assume that the
parents of healthy teenagers understand their child’s wishes and desires without
asking, we should not assume that the parents of a chronically ill child facing
chronic ventilation can speak for their child without asking. It is part of the ethical
duty of the clinician to the teenager to insure that the adolescent’s questions are
answered and wishes are taken into account in any decision regarding invasive
ventilation.
Infants with Severely Damaged Cognition or Multiple Sensory Deficits
Infants who are candidates for chronic mechanical ventilation may have other con-
ditions which can seem ethically salient in the decision as to the appropriateness of
invasive ventilation. The most common condition which raises ethical issues is a
severe cognitive deficit. In these infants, because of their perceived low quality of
life, the decision to institute chronic ventilation may be seen as a futile use of
resources or as prolonging suffering of the child. Everyone seems to have an opin-
ion about the use of chronic ventilation for these infants, and few hesitate to express
it; to some it is the unacceptable use of scarce resources for those who cannot
benefit, while to others to withhold such treatment based on assumptions about
quality of life is misguided and discriminatory.
It is beyond the scope of this chapter to settle the issue. However, there are sev-
eral issues that the clinician facing such decisions ought to keep in mind. First, the
decision is not really up for a public vote; it is the concern of the parents, the clini-
cians (all the clinicians, including those who will be involved only temporarily), and
the hospital. Second, the decision is not truly irreversible, although as stated above,
it may be harder to reverse than was previously expected. Third, we are currently in
a difficult era with regard to the infant brain and its capacity for improvement: while
there are new instances of neural plasticity unexpected in previous decades, there are
also some injuries from which no brain can be expected to recover. Knowing which
is which may take time, wisdom, and judgment; we should reserve room to make
different decisions in similar cases during this time of flux in our understanding.
Conclusion
Most aspects of the practice of medicine are suffused with ethical considerations,
and chronic invasive mechanical ventilation is no exception. Patience, foresight, and
teamwork are essential in addressing clinicians’ ethical obligations to children
and families facing chronic ventilation; attention to these concerns before, during,
and after the institution of mechanical ventilation is the best ethical practice.
Chapter 5
Palliative Care and End-of-Life
Considerations in Children on Chronic
Ventilation
Jeffrey D. Edwards
Alleviating illness and suffering and preventing premature death are fundamental duties
embraced by professional medical caregivers. However, despite our best efforts, not all
conditions are curable, and premature death is sometimes the result. Unfortunately, this
is also true for some conditions affecting children. Nevertheless, when caring for chil-
dren confronted with life-limiting conditions, professional caregivers are challenged to
strive to alleviate the child’s and family’s suffering and to fulfill life goals when possi-
ble. This often involves implementing palliative care paradigms in the context of the
family and their various needs.
Chronic respiratory failure is one such condition or manifestation of numerous con-
ditions that often cannot be cured. Instead, portable, high-efficiency respiratory devices
for both noninvasive and transtracheal support have evolved to assist or replace this
vital function. These technological advancements have meant more options, more deci-
sions, and often more care responsibilities for patients and families.
“Family” and “familial caregiver” are used here to mainly refer to those nonprofes-
sionals who have a long-standing relationship with the patient and devote themselves to
his or her care and are surrogate decision-makers for them. In most cases, this implies
parents. However, biological mothers and fathers are not always the functional parents
or primary caregivers of children with intensive healthcare needs. “Family” also refers
to other nuclear and extended relatives who are impacted by the child’s substantial,
ongoing care needs. It may also include non-related caregivers—friends, home health
aides, and private duty nurses—who have become an integral part of the child’s life and
vice versa. These extended family members should not be overlooked and should be
supported in the course of palliative care. In addition, despite the language in this
J.D. Edwards, M.D., M.A., M.A.S. (*)

Division of Pediatric Critical Care Medicine, Columbia University College of Physicians
and Surgeons, 3959 Broadway, CHN 10-24, New York, NY 10032, USA
e-mail: jde2134@columbia.edu

72 J.D. Edwards
chapter, it should not be presumed that all children on chronic ventilation are incapable
of participating in goals and values assessments or decision-making. The age and intel-
lectual ability of each child should be considered, and each child should be allowed to
participate and assent to the extent of her own capacity.
Chronic ventilation has been shown to be a relatively safe and effective means to
assist children with chronic respiratory failure [1, 2]. Nevertheless, given that inter-
ruption of assisted ventilation can be life-threatening for those with continuous
dependence and/or an artificial airway, it remains a risky technology [3]. Even those
with some intrinsic respiratory function risk acceleration of serious cardiopulmo-
nary complications if they are noncompliant with assisted ventilation. Some children
on chronic ventilation have underlying conditions that have a known terminal trajec-
tory with variable life expectancies (e.g., spinal muscle atrophy type 1, Duchenne
muscular dystrophy) [4, 5]. Others have conditions (e.g., cerebral palsy, trisomy 21)
that, while not terminal, will result in shortened life spans, compared to children
without these conditions [6, 7]. Many children on chronic ventilation live with com-
plex chronic conditions, other than chronic respiratory failure, that put them at risk
for acute, critical deterioration that can be life-threatening [8–11]. Often, children
with life-limiting or complex chronic conditions can have fluctuations in health over
time that vary from slow or rapid progressive declines in health to a pattern of rela-
tive stability interspersed with acute illnesses sometimes followed by new lower
plateaus [12]. Thus, while deterioration and premature death are real risks for many
children on chronic ventilation, prognostication of their timing is usually difficult to
impossible, as there are many factors in play, only some of which are modifiable.
It is important to recognize that chronic ventilation is relatively safe and effective
for children primarily because of the diligent, meticulous daily care provided by
familial and professional caregivers. Often their care needs are substantial and
ongoing. Thus, chronic ventilation and the child’s underlying conditions have a
profound impact on the family, as well [13–22].
For these reasons, professional caregivers of children on chronic ventilation are
charged with addressing these patients’ and families’ multiple and various needs
beyond effective ventilation. These needs can take many forms, from symptom man-
agement to developmental issues. It also involves caring for these children and fami-
lies as their conditions worsen and they approach the end of their lives. Preparing for
and providing such care to any patient and family can be challenging. Because the
premature death of a child violates our sense of the “natural” order, preparing chil-
dren and families has additional challenges. Even more potential obstacles arise in
this cohort because the child is already dependent on an extraordinary, life-assisting
technology. Attentive care, in general, and palliative care, specifically, offer the
means and paradigms to address these diverse needs and challenges.
The purpose of this chapter is to address how and why palliative care is relevant
to children on chronic ventilation and their families. It also seeks to explore poten-
tial challenges to palliative and end-of-life care in the context of caring for children
on chronic ventilation, as well as possible approaches to avoid or minimize them.
5 Palliative Care and End-of-Life Considerations in Children on Chronic Ventilation 73
What Children on Chronic Ventilation and Their Families

Want and Need
Several studies of patients with life-limiting or complex chronic conditions and

their families have sought to elucidate their needs when cure or prolongation of life
is not possible. Few specifically studied children on chronic ventilation. Also, it
should be noted that much of this family-centered research is potentially limited by
small sample sizes, relatively low response rates, and, thus, selection bias. So while
there is likely much that can be gleaned from this body of research and our anec-
dotal experience, the best resource to learn the wishes and needs of patients and
families are the patients and families themselves.
A simplified synopsis of most families’ wishes for their children is for them to be
as healthy, functional, and free of suffering as possible for as long as possible. This
wish was undoubtedly a motivation for choosing chronic ventilation and under-
standably remains a goal after it is initiated. Other related wishes of families with
children with life-limiting or complex chronic conditions include:
• Symptom management, including pain, dyspnea, depression [23, 24]
• Access to quality, compassionate medical care and a medical home with coordi-
nation of providers/services [11, 25]
• Adequate, competent home health services and respite services [25, 26]
• Prevention of further deterioration to new, lower plateaus of health and function
• A reduction in life disruptions and maintenance of normality for the child and
family [12, 15, 21, 27]
• Opportunity to discuss medical and nonmedical issues, have their concerns and
wishes heard, and make decisions (sometimes sharing this decision-making with
professional caregivers)
• Preparation and advanced planning for the future [11, 25, 28–32]. Most professional
and some familial caregivers are aware that this includes the end of life, in order
to avoid unnecessary suffering with interventions that may add more burden than
benefit
• Respect and affirmation of the child as a whole person and member of the family.
Patients with complex chronic conditions and disabilities and their families often
feel stigmatized and thus misunderstood or disrespected [23, 25, 31]
• Hope in the face of crises [33–35]
• Family members sometimes need to feel that there is always something they can
do to improve their child’s suffering (i.e., that they are “fighting” for the child) [27]
Some of these needs may fall out of the usual province of subspecialty care that
might be focused on one organ system or prolonging life, but within the scope of
palliative care.
74 J.D. Edwards
What Is Palliative Care and Why It Is Applicable to Children

on Chronic Ventilation and Their Families
Palliative care evolved with the recognition of patients’ suffering and unmet needs
at the end of life. Instead of focusing on disease-specific cures, it aims to treat the
whole individual and integrate medical (both physical and psychological),
emotional, and spiritual support. Although best begun at diagnosis, palliative care is
appropriate at any stage of a serious, chronic, or life-limiting illness. In other words,
it is not mutually exclusive from or an afterthought to curative/life-prolonging goals
and treatments [36–38]. There should not be a discrete, divergent switch from life-
prolonging therapy to palliative care. Rather palliative, chronic, and life-prolonging
care should be integrated and complementary within total care [39, 40]. Palliative
care commonly does and should play an increasingly more prominent role as
life-limiting conditions progress and death becomes more probable. As such, pallia-
tive care eventually also involves a transition from hope for a cure or prolongation
of life to hope for other things of importance [41]. Given that the patient is a mem-
ber of a family, palliative care also seeks to support the family, both while the patient
is alive and with bereavement support after their death.
The relevance of palliative care for the majority of children on chronic ventilation
is evident given they have chronic respiratory failure, other life-limiting conditions,
and/or substantial medical and nonmedical needs. Even those children with regressive
causes of chronic respiratory failure (e.g., bronchopulmonary dysplasia) sometimes
have concurrent comorbidities that are chronic and carry risks for acute deterioration
(e.g., severe intraventricular hemorrhage requiring cerebral spinal fluid shunt, feeding
intolerance requiring gastrostomy). Perhaps even more commonly, children on
chronic ventilation have static or progressive causes of chronic respiratory failure.
Furthermore, while underlying conditions may be static (e.g., cerebral palsy), their
associated complications can be progressive (e.g., contractures, neuropathic scoliosis).
Thus, palliative care is indicated for most children on chronic ventilation and should
not be thought of as mutually exclusive of it, as a technological life-assisting interven-
tion. Given the goal of chronic ventilation is not just to prolong but also to improve
life, chronic ventilation itself can be thought of as palliative in these children.
Given their numerous, various, and complex needs, palliative care for children
on chronic ventilation is an ongoing, demanding task. How to address all its
elements is beyond the scope of this chapter. Similarly, comprehensive provision of
palliative care is beyond the scope of one provider. Recognition of its importance
and that it is tantamount to “good” medical care in general are important starting
points. Professional caregivers wishing to provide palliative care should pursue an
interdisciplinary approach and avail themselves of other professionals (e.g., pallia-
tive care experts/teams, other subspecialists, generalists who care for medically
fragile children, psychologists, social workers, case managers, dieticians, and respi-
ratory, physical, and occupational therapists, as well as community resources such
as clergy and respite providers).
One core element of palliative care for children on chronic ventilation and their
families that deserves attention is preparing them for the future. As part of good
care, professional caregivers are obliged to help children and families anticipate and
prepare for the range of probable events that they may encounter. This sort of prepa-
ration requires two interrelated approaches: anticipatory guidance and advance care
planning. Anticipatory guidance is simply providing information and preventive
advice to families about the child’s expected future. It is usually generalizable to all
children but can be specific to the individual, and it is considered integral to
well-child care. Parents have reported increased healthcare satisfaction when antici-
patory guidance is provided [42]. Advance care planning is a proactive, incremen-
tal, four-stage process of guiding patients and surrogates (1) to an understanding of
their diagnosis and, if possible, their prognosis; (2) to an understanding of their core
values and goals that will help them prioritize future care options; (3) to then con-
sider the potential options and decisions they will face in the future; and finally (4)
to make anticipatory choices based upon their values and goals and before crises
occur that force and strain decision-making. Studies have shown that parents of
children with life-limiting conditions and special healthcare needs found advance
care planning helpful and desirable [28–30]. In one study, parents reported such
planning helped communicate and ensure desired care, provided time and informa-
tion to make decisions, and offered peace of mind [29].
Specific anticipatory guidance for children on chronic ventilation should focus
on the limitations and risks of these technologies and prevention of complications.
Appropriate topics to be raised with patients and families are highlighted in
Table 5.1. For many children, the probability of some of these events is relatively
low. However, because they do occur unpredictably and their impact and sequelae
are significant, they deserve addressing with families. Much of this anticipatory
guidance is best introduced before chronic ventilation is initiated in order to help
ensure that expectations are realistic and that an informed decision is made when
considering whether to initiate ventilatory support. Professional caregivers should
periodically reinforce and expand pertinent points during longitudinal care.
Given that many children on chronic ventilation have life-limiting illnesses and/
or are at risk for acute, critical deterioration, end-of-life advance care planning is
appropriate and necessary for this group. The goal of this planning is for children
and families to understand the possible circumstances under which death might
occur, the potential decisions they may face, and their overall goals, values, and
best interests of the child and family that should guide their decision-making. A
secondary goal is to avoid unnecessarily subjecting the child to interventions that
may prolong or increase the child’s suffering with little relative benefit. Advance
care planning should be initiated early once the life-limiting or complex illness is
diagnosed and should be continued throughout the course of that illness [30].
Admittedly, it is difficult to address all potential end-of-life scenarios; the choice
of which ones depends on the individual child. At minimum, cardiopulmonary
resuscitation (CPR) should be discussed. Families must understand that chest com-
pressions with possible defibrillation and cardiac medications are the indiscriminate
76 J.D. Edwards
Table 5.1 Topics appropriate for anticipatory guidance for children on chronic ventilation
• Chronic ventilation is only an assistive, never a curative, technology for respiration; it
cannot alter static or progressive conditions or the risks and burdens of comorbidities
• Weaning from chronic ventilation is possible for some children, depending on their
underlying conditions and other factors
• The child’s goals of care will likely need to be readdressed when the child’s condition
worsens, which can happen without warning
• A perceived state of improved health can sometimes occur after initiation of chronic
ventilation; this new plateau is sometimes temporary [59, 80]
• Acute illness sometimes precedes or leads to a new and more fragile state of chronic health [12]
• Common respiratory illnesses that are usually of little consequence to other children can
result in severe illness in children on chronic ventilation
• Home ventilators are often inadequate for assisting respiration during acute illness
• Rehospitalization is often necessary for children with acute illness
• Noninvasive ventilation, even when administered in a hospital, may be inadequate to support
respiration during acute illness, necessitating consideration of tracheal intubation
• In some cases, tracheal intubation is needed to support children normally sustained on
noninvasive ventilation (e.g., acute illness, surgery). In some of these instances, tracheal
extubation and return to noninvasive support are not possible and consideration of
tracheostomy is necessary
• Children initiated on noninvasive ventilation can sometimes not be optimally sustained on it,
and tracheostomy and transtracheal ventilation must be considered
• Tracheostomy complications and accidents—such as airway obstruction, decannulation,
ventilator disconnection, false track replacement, aspiration, and tracheal bleeding—are
potentially life-threatening [3, 8]. Similarly, for some patients on noninvasive ventilation, airway
obstruction, ventilator disconnection, and ineffective mask fit can be potentially life-threatening.
Caregiver competence in tracheostomy care, airway suctioning, bag-tracheostomy ventilation,
bag-mask ventilation, and cardiopulmonary resuscitation can be lifesaving
• Even in children who are only partially dependent on assisted ventilation, noncompliance
can accelerate life-threatening cardiopulmonary complications of their chronic respiratory
failure
default medical response in the face of cardiac arrest. In order for informed families
to assent to or forgo these measures, families should also understand that CPR is
usually only successful when the arrest is triggered by an acute reversible cause and
that nonfatal arrests can lead to new neurologic morbidity [43–46]. Because the
causes of acute deterioration can be initially unclear and may be reversible, CPR is
appropriate when deterioration is unexpected, even for children with life-limiting
conditions. Thus, familial caregivers learn basic life support and airway manage-
ment, and professional caregivers are obliged to attempt resuscitation. However, as
the child’s illness progresses or deteriorations become more frequent, severe, or
irreversible, the burden of aggressive CPR may outweigh any benefits. Thus, pre-
emptive decisions on CPR and other interventions may change over time.
However, simply addressing advance directives such as Do Not Resuscitation
(DNR) orders or Physician Orders for Life-Sustaining Treatment (POLST) forms
are often insufficient. Decisions faced during critical illness and at the end of life
are more complex than the narrow topics addressed by these directives. Other deci-
sions that may warrant advance care planning include utilization of hospice ser-
vices, place of death, the use of other treatments (e.g., antibiotics, artificial nutrition),
and organ donation. For patients on chronic noninvasive ventilation, why and when
tracheal intubation might be indicated should be discussed before it becomes a life
or death decision. Often it is appropriate to transcribe advance decisions into a
signed written care plan that indicates what medical care is (and is not) desired for
the child and why [29]. This care plan can be given to professional caregivers who
are unfamiliar with the child in emergencies or when family is not present.
Hospice care should also be considered and discussed as viable options when
appropriate and available. Commentators have argued that hospice care can be con-
current with disease-directed curative or life-assisting interventions [36, 47], which
would include chronic ventilation.
Understandably, clinicians may first think of end-of-life preparation when con-
sidering advance care planning for children with life-limiting or complex chronic
conditions. While this may be appropriate, a single-minded focus on end-of-life
issues may become an obstacle to dealing with this and other issues. The future for
children on chronic ventilation is as varied and complex as the children themselves.
It can range from independent living as young adults (e.g., for those with congenital
central hypoventilation syndrome) to progressive loss of functionality that requires
escalating intervention. As part of caring for the whole person and their family,
future non-end-of-life issues also deserve advance care planning. These often
include progressive mobility and feeding difficulties, but can also include many
other care issues, some of which can be controversial (e.g., growth attenuation
[48]). In addition, when possible and appropriate, transition to adult healthcare pro-
viders should be strategized for any adolescent on chronic ventilation expected to
survive into adulthood. Importantly, issues relevant to supporting the family also
deserve attention, such as respite, emotional/psychological/financial distress, rela-
tionship strain, social isolation, and sibling psychosocial development.
The Challenges of Palliative Care and Advance Care Planning
It can be challenging to help any patient and family come to terms with their
life-limiting condition and to participate in end-of-life palliative care and advance
care planning. This challenge is both personal and cultural, as death has become
something unfamiliar and to be avoided in Western culture [49]. Our healthcare
system also has systems barriers to providing this sort of care, including a relative
lack of expertise and training and insufficient resources/reimbursement [50].
Different and perhaps even greater challenges arise when the patient is a child, as
the death of a child is seen as an injustice to the natural order of life [51]. Similarly,
there are unique challenges to palliative care and advance care planning for children
with complex chronic conditions and those on chronic ventilation. These unique
challenges are often interrelated and can be linked to the idiosyncrasies of the
78 J.D. Edwards
child’s underlying conditions, chronic ventilation itself, families, and even profes-
sional caregivers. These challenges can culminate and contribute to palliative care
not being optimized and advance care planning not being done.
One of the most common and fundamental challenges is the difficulty of prog-
nosticating disease trajectory and death for a particular patient [12, 52, 53].
Professional caregivers and usually families are aware that children with complex
chronic conditions and chronic respiratory failure can die prematurely from pro-
gression of their underlying disease or acute critical illness related to their comor-
bidities [12, 54, 55]. In a large, single-institutional cohort study of children on
chronic transtracheal ventilation, the 5- and 10-year cumulative incidences of death
were 20 % and 37 %, respectively [8]. Strikingly, progression of an underlying con-
dition accounted for only a third of the deaths, and half of the deaths were unex-
pected. So while shortened life expectancies can be anticipated, the timing and
cause of these patients’ deaths can often not be accurately predicted [40]. This
inability to prognosticate can result in both professional and familial caregivers
being hesitant to initiate palliative care. Both may choose to focus only on life-
prolonging treatments until professional caregivers are “sure” of the child’s immi-
nent demise [11, 52]. In addition, arbitrary and spurious estimates of when death
will occur can hinder attempts to address end-of-life issues. Erroneous guesses can
lead to mistrust and misplaced focus. As Brook and Hain put it, “Numbers are
always memorable; the concept they illustrate less so” [56].
While professional caregivers tend to view uncertain prognoses as a simmering
“threat” to the child and want families to acknowledge the possible negative
outcomes, families may view them as a possibility for a good outcome or for an
extended period of not worrying about bad ones [35]. Despite this disconnect,
uncertain prognosis should be a sign that palliative care is needed, even when it is
not yet appropriate to focus on end-of-life care [52]. Importantly, it is not just the
timing and cause of death that can be difficult to prognosticate. Other events/pro-
cesses such as deteriorations of functionality or failure of noninvasive ventilation
and the need to consider transtracheal ventilation can also be impossible to predict
but substantially impact child and family.
Second and related to the inability to prognosticate death, it is not uncommon that
children on chronic ventilation have survived previous “near-death” illness, sometimes
more than once [11, 12, 40, 54, 57]. Scenarios where professional caregivers errone-
ously pronounce or speculate that the child will die can lead to a variety of familial
responses from desensitization to the gravity of future deteriorations to mistrust or
doubt in professional caregivers. Families may become increasingly reluctant to limit
future interventions [40] or rely on their own intuition on these grave matters and thus
move away from shared decision-making with professionals [58]. One way of looking
at this is families are doing nothing different than what professionals do—they inter-
pret and project the prior benefit of interventions onto future scenarios. Professional
caregivers may become unwilling to share ominous predictions in the future even
when their probabilities are higher and the need to address end-of-life issues greater.
Third, while chronic ventilation may be “palliative,” in some cases, it can become
a barrier to the provision of other palliative care. Commentators have reported their
anecdotal experience that families of children on chronic ventilation can adopt an

unrealistically positive view of the life-prolonging capabilities of these technologies
[44, 59]. This view can hinder participation in palliative care and advance care plan-
ning for the end of life, especially when the child is clinically stable. In addition, it is
likely that this extraordinary intervention becomes “ordinary” for the child and fam-
ily. It is rare that families of children on chronic ventilation are offered or request that
assisted ventilation be withdrawn at the end of life [44]. The choice for chronic ven-
tilation can implicitly and explicitly be a sign that other extraordinary, life-prolonging
interventions will be favored in the future. Reconciling the acclimation to and prefer-
ence for extraordinary interventions can become a challenge when the child’s under-
lying condition worsens more significantly or the care team concludes that the child’s
critical illness is likely not reversible. Thus, this preference, while initially appropri-
ate, often needs to be gently recalibrated as circumstances and family readiness
change [60]. Other familial and professional challenges to palliative care and advance
care planning for children on chronic ventilation are listed in Table 5.2.
Table 5.2 Familial and professional challenges to palliative care for children on chronic ventilation
Familial challenges
• Familial caregivers can assume (sometimes divergent) roles of primary and medical provider [19]
• A mutually dependent relationship can develop between the child and familial caregivers
who have devoted so much energy to their child’s care [40, 68]
• Familial caregivers and patients can adopt a “live for the moment” attitude [11, 52]
• Familial caregivers can understand their child’s life-limiting diagnosis on an “intellectual”
level, but not believe it on an “emotional” level, making them not ready to participate in
advance care planning [52, 81]
• After choosing chronic ventilation, the family presumes that they cannot or should not
discontinue assisted ventilation or forgo subsequent interventions when the child’s condition
deteriorates
• Familial caregivers consciously or unconsciously withdraw from a mutually respectful
patient-family-provider relationship when the child’s condition worsens and there are
disagreements with providers over the relative benefits and burdens of interventions,
potentially feeling that providers are “giving up” on their child [67]
• There can be conflict among familial caregivers on goals of care
• Some children on chronic ventilation live outside of a home and are wards of the state. Who
can make decisions about limiting life-sustaining interventions can vary by state. Detached
surrogate decision-makers can potentially be the result
• Some children on chronic ventilation live outside of a home, and, rarely, families are not as
involved in their child’s care as would be ideal [54, 82]. Detached surrogate decision-makers
can potentially be the result
Professional challenges
• With chronic ventilation, the child’s medical home can shift from generalist to potentially
intervention-oriented specialist [40]
• Professional caregivers have difficulty integrating life-prolonging-oriented care and palliative
care [40]
• Professional caregivers erroneously presume that because a family has chosen chronic
ventilation, they will always choose extraordinary measures to prolong their child’s life
(continued)
80 J.D. Edwards
Table 5.2 (continued)

• Professional caregivers erroneously interpret a family’s difficulty in discussing grave issues
as an implicit rejection of palliative care and advance care planning [11]
• Professional caregivers avoid raising sensitive, difficult issues with family members and
project their own lack of readiness to discuss these issues onto them
• Professional caregivers may have little experience caring for or providing palliative care to
children with such complex needs
• Professional caregivers’ time may be constrained and feel as though they cannot adequately
address all relevant topics [52]
• Professional caregivers can sometimes make assumptions (and thus recommendations/
decisions) based on brief or intermittent interactions with a patient during crises, which may
not reflect the child’s usual health state [12]
• Professional caregivers can sometimes make assumptions (and thus recommendations/decisions)
about the child’s quality of life and the family’s burden of care based on their own values and
biases, which may not reflect those of the child or family [83, 84]. Professional caregivers may
make conscious or unconscious attempts to impose their own values on the family
• Professional caregivers consciously or unconsciously withdraw from a mutually respectful
patient-family-provider relationship when the child’s condition worsens and there are
disagreements with families over the relative benefits and burdens of interventions, worrying
that the family has “false hopes” [35, 40]
• Professional caregivers may be unwilling to accept their patient’s fate
• Professional caregivers can sometimes use confusing language when discussing complex
issues [27]
• Different professional caregivers can sometimes provide noncomplementary or
contradictory information or recommendations [85]
Addressing These Challenges and Talking About

End-of-Life Topics
While there is no point-by-point framework to address these challenges, they usu-

ally can be avoided or minimized. Awareness of them is the first and most important
step. Next, using patience, sincerity, compassion, and candor is imperative when
dealing with patients and families. Similarly, other broad, important strategies
include good communication, avoiding abandonment, and propitious timing.
• Good communication
Listening, understanding, exploring, explaining, and teaching are the plat-
forms on which to build the patient-family-provider relationship [61]. Doing
these things effectively and thoughtfully with patients and families is vital for
facilitating palliative care. In one study of children with life-limiting oncologic or
cardiac conditions and their parents, five domains of physician communication
were identified as salient and influential to quality palliative care—relationship
building, demonstration of effort and competence, information exchange, avail-
ability, and appropriate level of child and parent involvement [62]. Physician
characteristics that were reported as harmful to palliative care included disre-

spectful or arrogant attitudes, not establishing a relationship with the family,
breaking bad news in an insensitive manner, withholding information from par-
ents and losing their trust, and changing a treatment course without preparing the
patient and family. Other adult studies found significant associations between
more empathic or emotionally supportive physician statements and higher family
satisfaction with communication during deliberations about limiting life support
[63]. Strategies and their corresponding mnemonics have arisen to aide profes-
sional caregivers empathically communicate difficult topics and explore patient
and family experience, understanding, and concerns [64]. Importantly, good
communication is not one-sided. Active listening and families having more time
to talk have been shown to increase family satisfaction in the care of their criti-
cally ill family member [65, 66]. Professional caregivers must balance being
compassionate with the need to always be forthright. Even before crises arise,
they should explain this intention. They should inform families that it would be
inappropriate to keep their concerns from them, that they are obliged to some-
times discuss difficult, sensitive topics, and that these topics will increasingly
need to be addressed if and when the child’s condition declines.
• Avoid any suggestion of abandonment
Families who feel that their professional caregivers are “giving up” on their
child can be resistant to engaging in important discussions related to end-of-life
care [67]. In addition, families who demand what is considered “futile” treatment
by their providers may be struggling with fears of abandonment [39]. Children
and families should and need to be promised and feel that, no matter the circum-
stances, there will be an overriding commitment to addressing their needs and
improving their situation. When families feel their providers are working dili-
gently for their child in all cases, doubt, mistrust, and other threats to the patient-
family-provider relationship may be avoided or minimized. This promise and
corresponding action permits for hope that things can get better. Parents of dying
children often retain an emotional component of hope for a “good” outcome
while still intellectually understanding the inevitability of their child’s condition.
They do not see these states in competition with each other [35, 57]. At the end of
life, this frame of mind should be channeled into a hope for their child’s suffering
to end through a peaceful death [39]. It also helps families to feel that they too are
doing all they can for their child, when life-prolongation is no longer possible.
• Timing is everything
Occasionally, the family themselves introduce the topic of end of life [29].
When this is not the case, appreciating when patients and families are ready to
discuss end-of-life issues is an important step in facilitating advance care planning.
As mentioned, the most appropriate timing for initiating end-of-life discussions is
early in the patient’s illness and before crises [68]. Early introduction of palliative
and end-of-life options can give patients and families more time to hear, question,
reflect on, and understand the difficult choices they may be forced to face [52].
82 J.D. Edwards
Ideally, advance care planning would be introduced when chronic respiratory

insufficiency is diagnosed (i.e., before chronic respiratory failure and before ini-
tiation of chronic ventilation). End-of-life issues are undoubtedly touched upon
or inferred during early conversations about whether to initiate chronic ventila-
tion. However, the expectation may not be realistic that families will connect
pre-initiation conversations that include how not initiating chronic ventilation
will allow the child’s chronic respiratory failure or other underlying conditions to
take their natural terminal course and advance care planning conversations after
initiation. For many children with recognized and unrecognized chronic respira-
tory insufficiency, chronic ventilation is not discussed until after an acute illness
pushes the at-risk child into failure [11, 69–73]. So, while end-of-life issues may
have been introduced before initiation of chronic ventilation, it would be rare for
advance care planning to not be modified by this new life-assisting intervention.
It needs to be reintroduced early after initiation and before new crises, meaning
that family readiness for such conversations needs to be reassessed early and
often. Furthermore, if their child has never had a “near-death” illness or a visible
decline in health from their long-standing baseline or if initiation of chronic ven-
tilation resulted in an improved plateau of chronic health, asking families to make
end-of-life decisions can be disorienting and without context [57].
While it is important for families to become partners in palliative care and
advance care planning at their own pace, professional caregivers should continu-
ously gauge family readiness and even create an environment that families recog-
nize their benefit [52]. Facilitating families’ acceptance of end-of-life palliative care
can be augmented by first integrating life goals and non-end-of-life palliative care
goals into the usual chronic care management [40, 74]. Similarly, a period of stabil-
ity after initiation of chronic ventilation and other non-end-of-life palliative care is
a good time to reintroduce end-of-life advance care planning. Other potential oppor-
tunities include development of a new comorbidity, the child approaching the upper
range of the anticipated lifespan, prior to major surgical procedures, when the child
starts to be left in the care of others, the death of another child the family knows, and
other transition points [44, 75] Less ideal, but common, is reintroducing end-of-life
topics after or during acute or chronic deteriorations of health [44]. Given that pal-
liative care and advance care planning are inclusive with life-prolonging options,
there should not be an abrupt switch to end-of-life issues. Just as patients’ clinical
condition can fluctuate, where the emphasis of advance care planning should be
placed can fluctuate. Similarly, “all or nothing” paradigms, such as only focusing on
DNR orders, should be avoided.
Although they may stem from a wish to provide compassionate care, suggestions
to abruptly redirect goals of care can be negatively received. When families are not
ready to discuss end-of-life issues and the child is clinically stable, overemphasiz-
ing this topic can make families believe that they are “on different pages” with
providers and obstruct the patient-family-provider relationship. Constantly remind-
ing families of their child’s serious diagnosis or overwhelming them with negative
anticipatory guidance risks quelling hope and sabotaging the relationship. Ill-timed
discussions also risk families feeling that their child’s presumed poor quality of life
or other unintended reason prompted the discussion, as opposed to the anticipated

trajectory of his conditions. However, by communicating belatedly or in a manner
that is not forthright, physicians risk under-informing families.
If the child is clinically stable, it is not necessary for families to preemptively
articulate their preferences for future scenarios. Rather, it is sufficient for them to
gain a realistic understanding of their child’s condition and risks and think through
the values and goals that will likely shape their decisions. To help with the latter,
one approach is to regularly recommend that families contemplate what they want
for their child when he is in a period of relative health and what they want when he
is threatened with serious acute illness or progression of an underlying condition.
Likely, the values and goals that surface when contemplating “positive” scenarios
can inform those that will be drawn upon to handle difficult ones. This approach
encourages families to reflect on the inevitability or the serious risks of their child’s
condition while still focusing on their positive and hopeful goals. It also permits the
professional caregiver to understand the family’s life goals and the opportunity to
show that she will work to help achieve them. Finally, it allows assessments of the
family’s readiness for end-of-life advance care planning. Regular encouragement to
contemplate and possibly discuss these goals would ideally be offered during regu-
lar outpatient visits, but it could also be provided during hospitalizations.
The amount of time and effort professional caregivers should expend discussing
scenarios of relative health versus illness depends on the child’s condition and trajec-
tory. As a child’s condition worsens, ensuring that families are contemplating end-of-
life goals and eliciting more specific preferences become more crucial. During periods
of instability, the situation’s gravity trumps family readiness, and the professional
caregiver must alert the family of significant concerns related to morbidity or death.
Just like any advance directive, advance care plans can be modified at any point.
The reasons for the desired change should be explored with the same sensitivity
and focus on overall goals and values that facilitated the initial plan. Professional
caregivers should ensure that the desired change is not prompted by confusion,
doubt, new stressor, or outside coercion. Otherwise, advance care plans should be
reviewed regularly with patients and families to ensure all are still in agreement.
When conflict over what is in the best interest for the child arises between
professional and familial caregivers, the family’s role as surrogate decision-maker
should be respected. The family’s love and commitment to their child’s welfare
should rarely be questioned. Finally, families are usually the ones who will have to
deal with the consequences of whatever decisions are made [76, 77]. Sometimes,
while shared decision-making is the goal, it is sometimes appropriate for professional
caregivers to take the weight of the difficult decisions onto their own shoulders in
order to help ameliorate the family’s suffering [78]. Sometimes professional caregivers
should compromise and agree to a plan that leads to a greater level of intervention than
they believe is ideal in order to maintain a partnership with the family. Over time and
as the child’s condition deteriorates, a less invasive plan can usually be agreed upon
[75]. Rarely, professional caregivers will feel obligated to involve outside parties,
such as ethic committees or the legal system, in conflicts.
Discussions around palliative care and advance care planning should be docu-
mented in the patient’s medical record, even when no decision has been reached.
84 J.D. Edwards
Such documentation can help future caregivers know what has been discussed and
where families are in terms of readiness, respond to allegations that important topics
were not discussed, and support reimbursement claims related to counseling [79].
While the points above are predominately for the longitudinal caregiver, even those
professionals who only sporadically interact with these children and families must
be aware that their interactions can impact patients and families and help or hinder
family readiness for advance care planning.
Palliative care is a necessary part of the total care for children on chronic ventila-
tion and their families. It complements life-prolonging or cure-oriented therapies by
providing other medical, psychological, emotional, and spiritual care. Through
advance care planning, it also offers families the chance to preemptively think
through future scenarios that their child will face because of his medical conditions
and think through the values and goals that will inform their ultimate decisions.
Importantly, while end-of-life palliative care and advance care planning should be a
focus, end of life should not be the sole focus. Rather, helping children and families
achieve life goals at all its stages is an overarching imperative, one that should not
be derailed by any combination of challenges.
Acknowledgments Special thanks to Drs. Gloria Chiang and Robert Graham for their reading
portions of the manuscript and for their suggestions.
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Chapter 6
Transition from Hospital to Home
Sherry L. Barnhart and April Carpenter
Introduction
With clinical and technological advancements in neonatal and pediatric care, more
children are surviving critical illnesses. Survival however is often accompanied by
respiratory failure and other complex conditions that remain unresolved at hospital
discharge [1]. The result is a population of technology-dependent children who
require either permanent or temporary mechanical ventilator assistance. With porta-
ble mechanical ventilators and nursing care available in the home, these children are
no longer remaining hospitalized. Today they are discharged home with oxygen, tra-
cheostomy tubes, positive pressure ventilators, airway clearance devices, and other
medical interventions that formerly would have only been available in a hospital [2].
Transitioning the ventilator-dependent child from the hospital to home requires a
coordinated effort between the child’s family and a multidisciplinary healthcare team.
The ultimate goal throughout the discharge process is to move the child into a home
where the family can safely and independently provide daily care that will result in a
healthy and optimum quality of life with a minimum of recurrent hospitalizations.
S.L. Barnhart, R.R.T-.N.P.S., F.A.A.R.C. (*)

Respiratory Care Discharge Planner, Respiratory Care Services, Arkansas Children’s
Hospital, 1 Children’s Way, Little Rock, AR 72202, USA
e-mail: barnhartsl@archildrens.org
A. Carpenter, A.P.R.N.
Arkansas Children’s Hospital, University of Arkansas for Medical Sciences,
Little Rock, AR, USA

90 S.L. Barnhart and A. Carpenter
Benefits of Going Home
Along with the high cost of care, there are multiple developmental and psychologi-
cal disadvantages to caring for a medically stable ventilator-dependent child in the
hospital. Most caregivers prefer their child be at home because this causes less
disruption in family activities. Moving care into the home can improve the quality
of life of not only the child but the entire family.
Enhanced Psychosocial Development and Quality of Life
Ventilation at home has long been considered as the respiratory technology-dependent

child’s best option for optimum psychosocial development, social integration, and
quality of life [3]. Families can provide far more love and dedication while caring for
their child at home than a nurse has time to give in an inpatient facility. Children tend
to thrive in the home environment and master developmental milestones at an increas-
ingly faster pace than while hospitalized. They are found to excel in the home envi-
ronment with improved activities of daily living (ADLs). Additional benefits are
improvement in skin integrity and musculoskeletal alignment, functional mobility,
communication skills and ability to use sign language, and overall independence [4].
Although few in number, studies have shown that participation in recreation and
leisure activity improves the quality of life in children dependent on long-term
mechanical ventilation. These activities include watching television, listening to
music, playing computer and board games, eating at restaurants, and attending movies
and sporting events [4]. Improvement in psychosocial outcomes are also noted when
these children are no longer separated from their families and are able to participate in
age appropriate peer activities. Many of them take pleasure in hobbies and everyday
activities and view their dependence on technology as a very small part of their lives.
Reduced Cost
The financial burden of caring for a child who is ventilator-dependent includes

medical equipment and supplies, hospital stays, ambulance transport, medication,
and other primary medical services [4]. Although reports indicate that 24-h nursing
care at home is more expensive than a standard children’s hospital ward, it is far less
expensive than care in a long-term ventilation unit or an intensive care unit [4].
Caring for the child at home has been found to be less costly by as much as 70 %
when compared to the cost of staying in an intensive care unit or step-down unit [5].
Savings in providing care at home can in some part be attributed to family members
bearing the cost of housing and providing a portion of the nursing care. Cost is
further reduced when home care minimizes the number of hospital readmissions.
6 Transition from Hospital to Home 91
Risks of Providing Care at Home
As is often the case, with many benefits there are also risks. In a recent study of
parents whose children attended a pediatric home ventilator clinic, one quarter of
the families reported financial struggles and over half reported unmet needs for care
[6]. This included therapeutic services and skilled nursing care, with inadequate
staffing being the major barrier to nursing care. Probable caregiver depressive dis-
order was also associated with an unmet need for care. However, transferring a
respiratory technology-dependent child from an inpatient facility to home carries
considerable risk even when 24-h nursing is provided in the home.
Risk of Mortality
Despite the technological advances in home monitoring of mechanically ventilated

patients, the preventable death rate among children has not changed significantly
during the last two decades [7]. The primary causes for preventable death in this
population are inadequate caregiver training, improper caregiver response to moni-
tor and ventilator alarms, improper response to the child’s clinical symptoms, and
lack of appropriately trained caregivers [7]. To reduce the risk of mortality the
American Thoracic Society (ATS) has developed guidelines for the home care of
children of children with tracheostomy [8]. These guidelines are based on research
and expert opinion and have been adopted by most children’s hospitals as the stan-
dard of care to successfully transition children receiving mechanical ventilation
from hospital to home. However, published standards for the care of children on
long-term invasive and noninvasive ventilation are still needed.
Inadequate Home Nursing Care
The lack of available home nursing along with an increasing number of inad-
equately trained nurses has hugely impacted the ability of families to care for
their ventilator- dependent child at home. Besides noting that there is a
decrease in the number of nurses willing to work in pediatric home care, lit-
erature also shows that most nurses employed in the home have little to no
prior experience providing tracheostomy or ventilator care to a child in a
hospital setting. For many, their competency is based on simulation and
online teaching methods [ 7 ]. Despite the advantages of learning through sim-
ulation with mannequins, the value of experiential learning with humans can-
not be replaced. Simulation, whether online or in a classroom setting, often
does not adequately prepare nurses for the unique needs of children and the
unpredictability of real-life circumstances [ 7 ].
Caregiver Stress, Fatigue, and Financial Loss
The needs of a technology-dependent child can change family dynamics and affect
the caregivers’ coping mechanisms. As family caregivers are responsible for a large
amount of their child’s medical care, the resulting stress impacts their marriage,
siblings, and extended family. A recent review reported that the demands of caring
for a chronically ill child created greater stress for the caregivers than the severity or
length of the child’s illness [9].
Due to the nursing shortage and cuts by the payer source, children requiring
chronic mechanical ventilation often receive only 12–16 h of skilled home nursing
per day or even less. Because nursing hours approved by insurance or Medicaid are
often grossly insufficient to meet the child’s needs at home, family caregivers are
now expected to become experts in the care of their medically complex child [10].
Being an expert includes providing their child with physical, occupational, and
speech therapies at home. It also requires that they manage highly technical equip-
ment including ventilators, cardiopulmonary monitors, oxygen, and feeding pumps,
as well as provide tracheostomy and gastrostomy tube care. The 24-hours-per-day
responsibility of assessing and monitoring their child and responding to ventilator
and monitor alarms can lead to a sense of isolation. These caregivers desperately
need respite time, a temporary break from the pressures of caring for their child in
which they can rest and replenish their energy. Unfortunately respite care is often
difficult if not impossible to acquire.
The care that their child requires can place considerable time demands on the
entire family. This often negatively impacts the caregivers’ employment, social life,
and ability to participate in the activities of their other children [11]. Although
employment outside of the home may provide a form of respite, many caregivers
experience missed days of work and disruption in their schedules which can lead to
reduced productivity and lower household income. Because of the added workload,
caregivers often suffer from sleep disruption, which causes fatigue and burnout and
puts them at high risk for physical illness and poor mental health outcomes [4].
Financial loss, chronic lack of sleep, feelings of guilt and resentment in not being
able to meet all of the needs of the rest of the family, and the around-the-clock vigi-
lance required often results in an enormous amount of emotional stress and isolation
[12]. This alone places these children at risk for re-hospitalization.
Lack of Community and Financial Resources
Often times caring for ventilator-dependent children at home can become a financial
burden to the family as their community resources and government aide runs thin
[3]. Families must constantly stay abreast of reimbursement and medical coverage
issues to avoid the aggravation of denials and the challenges of obtaining necessary
equipment and community assistance [13].
Children dependent on medical technology have unique healthcare needs and it

has become increasingly difficult to find clinicians who are qualified to care for
them at home. More hospitals are training physicians to be primary caregivers who
unfortunately often lack the ability to care for tracheostomy and ventilator-dependent
children. Traditional care doesn’t work for these children; they require an educated
clinician who can collaborate with the family and other medical team members to
make decisions that will benefit their care [10].
Alternative Sites of Care
The commitment to provide a child with chronic mechanical ventilation requires

determining the eventual site at which long-term care will be provided. Major factors
impacting this decision are the assessment of the family, the adequacy of the home
environment, and the medical needs of the child. Despite the benefits of discharging
a mechanically ventilated child home there are circumstances that prevent this out-
come. In the event that the child cannot be discharged safely to a home setting with
trained caregivers, it is recommended that transfer be made to an alternative site of
care. This may be an extended specialty hospital, a foster home, or a pediatric skilled
nursing facility where optimal nursing care can be continued [2]. Alternative
sites of care may serve three possible purposes: transitional care, respite care, or
long-term care.
Transitional care may consist of moving the child to an alternative site just
until the family caregivers are better prepared to bring the child home. During
transitional care emphasis is placed on the caregivers continuing training while
gradually increasing the care they provide to their child. Respite care may be
provided in an institution or medical foster home. Transitional care and respite
care are also utilized by families when there is an emergency or the home
becomes an inappropriate setting of care for a short period of time. Long-term
care is for children whose caregivers are either unable or unwilling to have them
cared for at home. Some states do not have facilities that provide such care for
infants or children. In those situations the care is provided in a subacute or step-
down transitional unit within an acute-care hospital setting. In most cases, the
care in alternative sites is temporary and the ultimate goal is for the child to be
reunited with the family.
Multidisciplinary Team Approach to Discharge
Discharging technology-dependent children from the hospital is a complex and

challenging process. Planning for the discharge of any patient should ideally start
before or at admission. However in many cases it is not known at admission that a
child will be ventilator-dependent upon discharge. Deciding that a child is
medically appropriate for home mechanical ventilation and caregivers’ committing

to provide it usually occurs later in the hospital course. For these children, it is when
that decision is made that discussion of discharge needs should begin. Effective
discharge planning for them involves a skilled multidisciplinary team approach with
each healthcare professional having a clearly defined role [13].
Team Composition
The multidisciplinary discharge planning team should include, but not be limited to,
hospital and community healthcare workers who can provide expertise and empower
families as they prepare to independently care for their child. Although team com-
position will vary per hospital, Table 6.1 lists those who may be represented on the
team. At the center of this team are the caregivers and their child; family-centered
care is widely embraced as an essential component of the medical home and is a
core-objective of the Maternal Child Health Bureau’s goals for the care of children
with special healthcare needs [14] (See Chap. 7).
Table 6.1 Composition of multidisciplinary discharge team

• Patient and Caregivers
• Physician
• Advanced nurse practitioner
• Specialty nurse
• RN case manager/discharge planner
• Respiratory case manager/discharge planner
• Social worker
• Nutritionist
• Child life specialist
• Respiratory therapist
• Occupational therapist
• Physical therapist
• Speech therapist
• Pharmacist
• Chaplain
• Home medical equipment provider
• Home nursing agency representative
• Insurance case manager
• School nurse
• Alternative site (e.g., subacute specialty hospital, foster home, pediatric skilled nursing
facility) representative
Responsibilities of the Team
The discharge planning team’s goal is to provide the caregivers and the ventilator-
dependent child with a successful transition from the hospital. This is done by (1) estab-
lishing a target length of stay, (2) identifying issues that must be resolved prior to
discharge, and (3) developing a discharge plan unique for each individual child and
family. Together the team should make decisions and agree upon the discharge process
and the appropriate time for discharge. Because of the number of members involved in
this multidisciplinary collaboration, it is essential that communication remain effective.
This can be accomplished through team rounding within the hospital units, discharge
planning team meetings, designated liaisons for the medical equipment company and
the nursing agency, progress notes and team meeting summaries accessible by both hos-
pital and home care staff through the electronic medical record, caregiver competency
documentation, and personal contact with the caregivers by phone or at the bedside [15].
Communication with Caregivers
Efficient lines of communication are essential during the ventilator-dependent

child’s transition to home. Information is an invaluable means of enhancing the
caregiver’s sense of control. Regularly scheduled meetings with the caregivers and
the multidisciplinary team provide a time for every one present to ask questions and
voice their concerns. It is helpful to have one team member responsible for schedul-
ing the meetings and communicating these dates and times with the caregivers.
Keeping the caregivers informed about their child’s medical progress and dis-
cussing their understanding of the condition and prognosis provides an opportunity
to address any misconceptions. It is important to determine what caregivers expect
to occur prior to and following discharge home. They also need a clear understand-
ing of the roles of the various healthcare providers. There is often a wide difference
between the caregivers’ expectations of the community healthcare services that will
be provided at home and what actually occurs.
It is vital that the family caregivers meet the team as soon as it is determined that
their child will require long-term mechanical ventilation. The initial meeting may
have only the family, physician, nurse practitioner or specialty nurse, and social
worker in attendance. The primary purpose of this meeting is to inform the caregivers
of the process that is followed when discharging a ventilator-dependent child to home
and the options available to them. The caregivers should be provided with educational
material explaining the discharge process for their child. This should include informa-
tion about what their child will need at home, what skills the caregivers are expected
to learn, and the steps that must be followed in preparing for their child’s discharge.
Members of the multidisciplinary team should meet often with the caregivers to
identify and work through any barriers relating to discharge. These meetings provide
an opportunity to set goals and priorities for the family and review the level of
responsibility expected of them. Figure 6.1 provides an example of a handout that
may be given to the team members for use at a meeting. Caregiver meetings should
occur at least every 2–4 weeks, depending upon how close it is to the expected dis-
charge date. As discharge day nears for a child, the team may choose to meet more
frequently. Scheduling a final meeting within a week of discharge is often helpful in
making sure that everything is in place with the caregivers, the home, the medical
CAREGIVER/FAMILY MEETING -- PREPARING TO GO HOME

Date: ____________________
**Tentative Date for Discharge Home is _____________________**
CAREGIVERS
Name & phone # of caregivers who will complete the training to take your child home:
1 __________________________________ Phone #_________________________

2 __________________________________ Phone # _________________________
3 __________________________________ Phone # _________________________
You need to complete the following training before beginning the 24-hour in-hospital stay
with your child:
___________________________________________________________________________
___________________________________________________________________________
___________________________________________________________________________
You need to have the following before your child will be discharged:
___ car seat ___ crib or bed ___ stroller or wheelchair
___ smoke alarms ___ fire extinguishers ___ home/electrical repairs completed
Other things you need before discharge: ____________________________________

_______________________________________________________________________
_______________________________________________________________________
Your 24-hour in-hospital stay is tentatively scheduled to occur on: __________________
If you have questions about your training or what you need at home, contact your child’s
nurse or social worker.
HOME NURSING AGENCY
Name of agency that will provide nursing care in your home: _______________________
Location: _________________________ Phone # __________________________

Supervisor: ________________________ Phone # __________________________
Home visit from nursing agency will occur on: ____________________________________
If you have questions about home nursing, contact: _______________________________
Fig. 6.1 Caregiver handout for use during family meetings

HOME RESPIRATORY EQUIPMENT COMPANY
Name of company providing the ventilator and respiratory equipment:

____________________________________________________________
Location: ________________________ Phone # _________________________

Manager: ________________________ Phone # _________________________
The home visit from the respiratory equipment company will occur on: _______________
Dates you will receive ventilator and respiratory equipment training: _________________
Your training will be held at ___ your home, ___the hospital, ___ the equipment company.
The respiratory equipment/supplies will be delivered to your home on: _______________
If you have questions about your home equipment, contact: ________________________
FEEDS/ENTERAL SUPPLIES COMPANY
Name of company providing feeds and enteral supplies: __________________________
Location: ________________________ Phone # _________________________

Manager: ________________________ Phone # _________________________
Dates you will receive feeds/enteral supplies training: _____________________________
Your training will be held at ___ your home, ___the hospital, ___ the equipment company.
The feeds/enteral supplies will be delivered to your home on ________________________
If you have questions about your feeds/enteral supplies, contact: ____________________
IMPORTANT DATES TO REMEMBER:
Home Visit from Nursing Agency: _______________________________________

Home Visit from Respiratory Equipment Company: ________________________
Ventilator & respiratory equipment training: ______________________________

Feeds & enteral equipment/supplies training: _____________________________
24-hour in-hospital stay (tentative date): _________________________________

Discharge date (tentative date): _________________________________________
Fig. 6.1 (continued)
equipment company, and the nursing agency. Barriers to communication include

extensive distance from the hospital, limited transportation options, and limited
caregiver education level. For those caregivers who have a language barrier, it is
essential that interpreters are provided during all training sessions and caregiver
meetings with the discharge planning team. It is also helpful to identify intermediaries
within an ethnic community and establish linkages with community-based services.
Pre-discharge Criteria
Specific criteria must be met before the ventilator-dependent child can be con-
sidered for discharge. Following these criteria has been found to result in a
reduction in hospital length of stay, unplanned readmissions, and post-discharge
medical costs. Table 6.2 lists criteria that should be met before discharge is
considered.
Medical Stability of Child
Each child must be evaluated and medically stable prior to hospital discharge. If
the child has a condition that may require readmission to the hospital within 1
month following discharge, then that child is not considered medically stable [5].
The tracheostomy must be secured and stabilized to reduce the risk of obstruc-
tion or inadvertent decannulation. Children who are receiving noninvasive venti-
lation must be tolerating well the airway interface (e.g., mask, nasal pillows) and
accompanying headgear. A stable oxygenation and ventilatory status is present if
the FiO2 requirement is less than 0.40 and blood gas CO2 levels are considered
appropriate for that child’s diagnosis [16]. When a ventilator-dependent child is
discharged home for the first time, the same model of ventilator that will be
used at home should be used for at least a 1–2 week period before going home.
For at least 1 week prior to discharge there should be no changes made in the
medical plan of care including no changes in the ventilator settings or supple-
mental oxygen. Making changes in the medical plan in the week prior to dis-
charge is an important predictor of unplanned readmissions to the hospital
within 3 months of discharge [17].
Table 6.2 Pre-discharge criteria for home mechanical ventilation

• Medically stable child
• Secure and stable airway
• Stable oxygenation with FiO2 requirement at an acceptable level for home use
• Stable ventilatory status with appropriate CO2 level
• Two supportive and skilled caregivers who have completed training and met competency
requirements
• Safe and stable home environment
• Available home equipment and supplies
• Adequate home nursing care
• Adequate funding of home equipment and nursing
• Available community resources
• Provisions for emergency care
Identification and Assessment of Caregivers
Caregivers are fundamental in ensuring the survival and quality of life of their
ventilator-dependent child. Most hospital policies require two adult caregivers in
the home—a primary caregiver and a secondary caregiver. They must be willing
and able to commit to the ongoing training required prior to discharge home and be
capable of successfully completing all competency assessments. This commitment
to provide complex care must continue into the home. For that reason it is essential
to determine the extent of the caregivers’ desire to invest their time and energies into
the care of their child [2].
Identifying appropriate caregivers for the child is critically important and often
fraught with problems. No matter how strong and sincere the commitment to care
for the child may be, other factors may become barriers to a successful discharge
home. Assessment of the maturity level, emotional stability, and mental status of
caregivers is a necessary component of anticipating their ability to provide safe
care for their child. How well they understand the child’s medical condition, rea-
sons for hospitalization, and expectations for progress may well be indicative of
their maturity level and/or cognitive abilities. Problems in accessing transporta-
tion may become apparent when caregivers are unable to visit their child while in
the hospital. There are also sociocultural and religious practices that may need to
be addressed.
Evaluation of Home Environment
Evaluating the family’s home is one of the most critical steps in determining if the
child can be discharged into the care of their family. It doesn’t matter how well
equipped and competent the family is in caring for their child or that equipment and
nursing staff are available, if the home environment is not safe or accessible for the
child, then discharge home is not feasible.
The medical equipment company performs a home safety assessment. Electrical
capacity and outlets are inspected to determine if they will support the ventilator and
other medical equipment. Outlets must be grounded and have a dedicated circuit for
the ventilator and other medical equipment. Functional smoke detectors, carbon
monoxide monitors, and fire extinguishers are required. The child’s room must have
adequate lighting and be large enough to house the respiratory equipment and still
allow rapid exit in case of an emergency. The evaluation also includes identification
of an area where supplies may be stored as well as an area where reusable equipment
can be cleaned and dried. A bathroom connected to the child’s room is helpful
although not mandatory. Should the company find problems within the home during
the initial assessment, the family is responsible for correcting the inadequacies. A
follow-up assessment must be performed by the company and if all corrections have
been made then the company will proceed with providing equipment and training.
Figure 6.2 is an example of a home safety assessment form that may be used by a
home medical equipment company.
The nursing agency also inspects the home for cleanliness and fire safety.
Evaluation includes ensuring that there is a crib or bed for the child and a bedside
chair and table available for the nurse to use. There must be no infestation of bugs
or rodents. Some agencies require a landline phone, even if the family has mobile
phone service. Architectural barriers and the home’s ability to accommodate large
equipment, such as lift systems and hospital beds, must also be considered [2].
HOME MEDICAL EQUIPMENT COMPANY
HOME ASSESSMENT FORM
Patient Name: ____________________________________________________________
Home Address: ___________________________________________________________
Date of Assessment:_______________________________________________________
Individual Completing Assessment: ___________________________________________
Wiring – Electrical Main Service is ______ amps.
Home is equipped with circuit breakers. ___ Yes ___ No
Electrical outlets are 3-prong and grounded. ___ Yes ___ No
Heating – Cooling
Source of home heating: ___________________. Heating source is adequate. ___ Yes ___ No
Source of home cooling: ___________________. Cooling source is adequate. ___ Yes ___ No
Physical Space Patient’s room is approximately ___ x ___ ft.
Room has adequate space for equipment and supplies. ___ Yes ___ No
Accommodations are adequate for cleaning equipment and storing supplies. ___ Yes ___ No
Source of room lighting is ___ lamp(s) ___

ceiling light. Lighting is adequate. ___ Yes
___ No
Communication and Safety
Home has a land-line phone. ___Yes (phone #____- ____- _______) ___ No
Home has 9-1-1 service. ___ Yes ___ No
Home has smoke detectors. ___ Yes (number of detectors: ___)

___ No
Home has fire extinguishers. ___ Yes (number of extinguishers: ___) ___ No
Summary & Recommendations
______________________________________________________________________________
______________________________________________________________________________
______________________________________________________________________________
Fig. 6.2 Home safety assessment form

Children with a tracheostomy and those who require noninvasive mechanical ventilation
are very sensitive to all forms of smoke. This includes secondhand tobacco smoke in the
house and car as well as on clothing. A ventilator-dependent child’s environment must be
smoke-free at all times. Caregivers and family members should be encouraged to stop
smoking and provided with information on smoking cessation assistance. If they continue
to smoke they should be advised to smoke outside of the home and to remove clothing that
smells of smoke before they hold or care for their child.
Assessment of Available Financial Resources
Adequate financial resources must be available to provide equipment, supplies,

medication, therapies, and nursing care in the home. Healthcare funding coverage
(e.g., private insurance, Medicaid) must be verified and it must be determined if
there is a limit or if there are alternate payment sources. Alternative coverage is
sometimes obtained through state Medicaid waiver programs, state-funded respite
programs, or private payment through an agency or charitable organization.
The family’s ability to finance healthcare costs after discharge should also be
assessed. It is critical that they have the financial resources to maintain the daily cost
of living, including food, housing and utilities, and transportation to clinic visits.
Availability of Home Equipment and Nursing Care
Providing appropriate equipment for the home requires selection of a home medical
equipment company. The company must be able to provide the required equipment
and capable of servicing the geographic area in which the child resides. Qualified
staff that are available 24 h per day is essential in providing home equipment for a
ventilator-dependent child.
Although there are currently no universal standards stating the required hours per
day of nursing care in the home of a ventilator-dependent child, it is understood that
it must be in place before a child can be discharged from the hospital. The period
immediately following discharge is a difficult transition for most families. It is dur-
ing this time that 24 h per day skilled home nursing care is recommended to prevent
caregiver stress and disruption in the child’s care. The additional support provided
by skilled nurses is directly related to a better quality of life [20].
Primary Care Provider and Pulmonologist
A primary care provider (PCP) must be identified prior to hospital discharge. This
physician must be willing to provide care for a medically complex child who
requires chronic mechanical ventilation and be knowledgeable about the child’s
diagnosis, treatment, and long-term goals. Prior to discharge from the hospital, the
PCP should be informed of the discharge date. The PCP should also receive a
detailed summary of the child’s hospital course, information about the ventilator
and the settings, a list of medications and therapies, the dates and frequency of sub-
specialty clinic visits, and community services that will be provided [2]. In addition,
a child on long-term mechanical ventilation should have an identified Pediatric
Pulmonologist or other qualified practitioner skilled in ventilator management and
specialized pulmonary care (e.g., Pediatric Critical Care or Anesthesia specialists in
some areas). As discussed in detail in Chap. 7, the primary medical home provider
should be identified and the respective roles of the primary and all subspecialty
providers should be clearly delineated.
Home Medical Equipment and Supplies
Respiratory equipment and supplies for the home are obtained through a home medi-
cal equipment company that, in the United States, is certified by the federal agency
Centers for Medicare and Medicaid Services (CMS), within the US Department of
Health and Human Services. The home medical equipment company may or may not
be hospital based. This company is responsible for obtaining a home assessment,
delivering and maintaining the equipment and supplies, providing caregiver education
on the equipment provided, coordinating preventable maintenance, and replacing
equipment as needed. The family should be provided with a list of available equipment
providers. Selection of this company is usually through caregiver preference, although
this may not always be possible as choices can be limited due to equipment availabil-
ity, in-network healthcare financing status, and geographic location.
Determining which company to use depends upon several factors. The company
must be located within the service area where the child will reside following dis-
charge. It is best to be in-network with the healthcare funding source and it should
provide 24 h a day, 7 days a week staffing availability for response to equipment
failure or malfunction. If more than one company is available, then the child’s care-
givers should be given the choice of which company will provide the equipment.
Identification of the equipment provider should be done as soon as possible to
reduce the risk of delaying discharge. Since most companies will not agree to pro-
vide equipment or caregiver training until an acceptable home evaluation has been
obtained, a referral to the company should be made as soon as the need for home
mechanical ventilation is determined. Scheduling the home evaluation as early as
possible allows more time to make any needed changes to the home, such as provid-
ing grounded electrical outlets, adding wheelchair ramps, or widening doors. Early
planning also gives the company plenty of time to order equipment and supplies and
schedule training sessions for the caregivers [2].
Respiratory therapists or nurses from the home medical equipment company are
usually responsible for providing caregivers with instruction sessions regarding care
and operation of the ventilator and respiratory equipment provided. This training
may occur at the company’s office, in the child’s home, or at the bedside in the
hospital. Sessions should be scheduled in advance of discharge so that caregivers
Table 6.3 Home equipment • Oxygen - portable tank or liquid canister

and supplies for the
• Oxygen - stationary concentrator or liquid base unit
respiratory technology-
dependent child • Suction machine - stationary and portable
• Pulse oximeter
• Apnea monitor
• Heated humidifier
• Mechanical ventilator + circuit
• Airway clearance devices
• Air compressor
• Resuscitation bag
• Suction catheters
• Tracheostomy tubes
Tracheostomy ties
Tracheostomy care kits
Trach Go Bag
Emergency home power generator
have ample opportunity to become familiar with the equipment and become skilled
in its use prior to the in-hospital stays and discharge home.
The equipment required varies depending upon the child’s individual needs. For
each piece of equipment selected for the home it is important to consider its porta-
bility and durability, alternative devices for use in case of malfunction, available
power sources for travel, and ease of use. Table 6.3 lists medical equipment that
may be used in the home. Depending upon the location of the home and the equip-
ment required during the transport home, medical equipment and supplies may be
delivered to the hospital, to the home, or to both. A ventilator-dependent child can-
not be cared for in the home without the necessary equipment and supplies. Any
problem that prevents the child from obtaining the equipment will also prevent the
child from being discharged home.
All equipment that will be provided in the home must have a physician order.
Orders must include the brand and model of mechanical ventilator and ventilator set-
tings, type of oxygen devices and flow rates, pulse oximetry and/or apnea monitor
alarm settings, and airway clearance devices. State Medicaid and insurance providers
require proof of medical need for the equipment. This may be provided in the form of
letters of medical necessity, sleep studies, lab values, or through documentation in the
history and physical, progress notes, and flow sheets within the child’s medical record.
Home Nursing
A ventilator-dependent child requires complex and time-consuming care which is

usually unfeasible for the family alone to provide. This often results in parents expe-
riencing sleep deprivation, emotional and physical stress, and financial loss [21].
Professional nursing support in the home may improve the health and well-being of
caregivers [22]. It gives the caregivers an opportunity to be away from their child,
either outside of the home or just a break from being a medical caregiver. Full-time
private duty nursing by an LPN or RN provides care with procedures that cannot be
legally provided during brief and periodic visits by home health aides. Nursing ser-
vices are generally funded through insurance or Medicaid and payers must approve
coverage before care can begin.
The level of nursing support required varies with each child and family. Parents
need time to sleep, work at jobs outside their home, and care for other siblings. A child
may initially receive approval from the healthcare funding source for 24 h per day
nursing care. However coverage is very likely to decrease to as low as 8–12 h per day
after the child has been home for a period of time. Caregivers must also be made aware
that there will be times when even though nursing staff is scheduled to be in the home,
they will not work because of illness, family issues, an emergency occurs, or they just
fail to show up. Contingency plans should be in place for families to follow in case
nurses are unavailable [2]. Clinical issues that can affect the support needed include
changes in the child’s medical condition, the child’s ability to breathe spontaneously,
the amount of time mechanical ventilation is required per day, frequency and duration
of therapies, and nutrition requirements. There are also family and caregiver issues
that can impact home nursing need, especially those placing greater demands on a
family’s time. Examples are loss of the primary or secondary caregiver, siblings with
medical conditions, additional children, and changes in job commitments. Other fac-
tors that may result in a decrease in nursing coverage are changes in healthcare fund-
ing, a lack of available nurses, and the family’s inability to cope with the child’s needs.
Although nursing care supports the family, it may also intrude on their privacy
and cause the family to prefer to have less nursing care or none at all [12]. Parents
who work outside the home may choose to have nursing coverage only during the
hours that they work or only when they sleep. Nursing professionals must have a
high-level of skills in airway management that includes tracheostomy care, ventila-
tor management, troubleshooting alarms, airway clearance therapies, and CPR with
tracheostomy emergency protocols [7]. Professional nursing care is for many fami-
lies a critical factor in the quality of care at home. However, nursing care is not
always available. Due to the shortage of skilled pediatric nurses in some communi-
ties, it may be difficult to obtain adequate staffing for a patient and result in dis-
charge being delayed. There are also situations in which families report that care has
been disrupted by a nursing staff with inadequate levels of skill [23].
Preparing the Caregivers
In most situations constant home nursing care cannot be guaranteed and parents or
other adult family members must be responsible for part or all of the day to day
medical care [24]. In order for care at home to be effective, it is paramount that the
caregivers are dedicated to caring for their child and are available and willing to
learn how to provide all medical interventions. They must develop the skills to com-
petently and independently perform routine and emergency tracheostomy tube
changes, operate and troubleshoot the ventilator and other equipment, administer
medications and feedings, and provide airway clearance therapies. They must also
be able to recognize signs and symptoms of respiratory distress and understand the
technological supports their child requires. As a result the caregivers must be pro-
vided with a structured training program which covers all aspects of the knowledge
necessary to provide a safe home environment and allows opportunities for super-
vised practice and skills to be developed.
Establish Expectations
The burden of caring for a ventilator-dependent child at home is often underesti-

mated. The transition from a parent or family member to the caregiver role is a
dynamic process with consequences that impact the entire family [25]. Caregivers
must assume a role for which they have little or no experience and which they never
expected to take. They may feel shocked and overwhelmed by the uncertainty of
assuming all aspects of their child’s medical care at home. To work successfully
with family members who are designated caregivers, it is important to have a shared
understanding of what their role entails and to establish realistic expectations of
their level of involvement and the education required. For adult caregivers to
achieve educational goals, the goals should be clearly defined [24]. Prior to dis-
charge, in order to better understand the skills and the care required, it may be help-
ful for them to meet with other caregivers who have a ventilator-dependent child at
home.
Caregiver Education
Effective educational programs begin early in the discharge plan and incorporate a
variety of progressive learning activities including bedside teaching, computer
modules, videos, educational manuals, and simulation models with interactive ses-
sions [26, 27]. Consistent and thorough training is provided by designated nursing
staff, therapists, and nutritionists. Allowing caregivers multiple opportunities to
observe techniques and actually perform the interventions builds their confidence
and competence in caring for their child.
Caregivers should be provided instruction in the technical aspects of operating
equipment and alarms, identifying equipment problems, and administration of thera-
pies, medications, and feedings [28]. They should also receive training in emergency
preparedness including their response to an obstructed airway, cardiac arrest, weather
emergencies, and equipment malfunction [29]. CPR instruction must include resusci-
tation of a child with a tracheostomy [7]. Using simulation educational models may
be the most effective way to train caregivers and to check proficiency in response to
emergency scenarios. Caregivers can benefit from a manual that provides information
Table 6.4 Content of manual • Understanding medical terms

for caregivers of ventilator-
• Caregiver’s role at the hospital
dependent children
• Required classes and training
sessions
• Procedures for equipment operation
and therapies
• In-hospital stays
• Preparing the home
• Medical equipment in the home
• Home nursing care
• Discharge day
• Clinic visits
• Preparing for emergencies at home
• Troubleshooting equipment
problems
about caring for their child. The manual may discuss what the caregivers can expect
during the discharge process, including caregiver responsibilities and information
detailing operating medical equipment as well as steps to take in performing proce-
dures. Table 6.4 lists content that may be helpful to include in a caregiver manual.
Table 6.5 lists those educational items that caregivers are typically required to show
proficiency in before discharge to home. It may take several weeks of training before
caregivers have acquired the skills needed to care for their child at home, with some
caregivers progressing through the training at a faster or slower rate than others.
Assessment of skills should include return demonstration of medical interventions,
successful activity during a simulation, and verbal responses to scenarios. Training is
considered complete when caregivers can demonstrate competency in all of the
required tasks and correctly respond to verbal or simulated emergency scenarios.
Figure 6.3 is an example of a proficiency checklist that may be used to document a
caregiver’s competency level. An ongoing evaluation of the caregiver training process
should be in place to identify opportunities for improvement [24].
Caregiver In-hospital Stays
Before the child is discharged home it is common practice that the caregivers are
scheduled to stay overnight in the hospital room with their child where they are
responsible for independently providing most if not all of the care [2]. Hospitals
have various terms for this in-hospital stay including “family care stay,” “family
care session,” and “rooming-in.” During in-hospital stays the caregivers take turns
sleeping or leaving the room, with at least one caregiver in the room and awake at
all times. Both must be in the room during any procedure that requires two people,
such as changing tracheostomy ties or changing a tracheostomy tube. It is impor-
tant to document any difficulties the caregivers have or unexpected issues that
Table 6.5 Required skills of Demonstrate Proper Operation (as applicable)

caregivers of ventilator-
• Portable oxygen—tank, liquid canister
dependent children
• Stationary oxygen—concentrator, liquid
base unit
• Pulse oximeter—apply probe, respond to
alarms
• Resuscitation bag—demonstrate manual
ventilation
• Suction machine—stationary, portable
• Mechanical ventilator—check/change
settings, respond to alarms
• Heated humidifier with ventilator
• External ventilator battery and charger
• Heated humidifier with tracheostomy
collar
• Air compressor with tracheostomy collar
• Enteral feeding pump
Demonstrate Proper Technique
• Hand washing and infection control
• Bathing
• Mouth care
• Assessing respiratory status
• Changing oxygen flow
• Tracheostomy tube change
• Tracheostomy ties change
• Tracheostomy cleaning
• Suctioning a tracheostomy
• Suctioning using sterile suction technique
• Suctioning using clean suction technique
• Suctioning using a mucus trap
• Response to tracheostomy tube
obstruction
• Response to accidental tracheal
decannulation
• Chest physiotherapy
• Use of airway clearance devices
• CPR with modification for tracheostomy
• Administering medications
• Providing feedings
arise during the stays. Although hospital policy may require a minimum number
of stays, caregivers should be encouraged to continue performing as many aspects
of their child’s medical care while still in the hospital, even after successfully
completing the required minimum in-hospital stays.
U sing a Portable Oxygen Tank
Caregiver: _____________________________________ Date: _________________
Nurse/Therapist: _______________________________
S U NP Comments
Attach Regulator and Set Oxygen
Flow
1. Collect the oxygen tank, regulator,

and oxygen tubing
2. Wash hands
3. Attach the regulator to the tank
4. Use wrench to open the tank
5. Check the pressure gauge
6. Connect the oxygen tubing
7. Turn on the oxygen flow
8. Secure the tank or canister so it does

not tip over
8. Wash hands
Fig. 6.3 Sample of proficiency check for caregiver of ventilator-dependent children

Disconnect Regulator
1. Bleed the regulator
2. Remove the regulator from tank
3. Wash hands
S=Satisfactory
U=Unsatisfactory
NP=Not performed
Some institutions have two levels of family care stay or “rooming in.” The initial
stay is often scheduled early in the child’s hospitalization and may occur before all
training has been completed. It usually lasts only 24 h. During this stay, caregivers
may be responsible for bathing and feeding their child, administering medications,
suctioning and using the resuscitation bag, and providing tracheostomy cleaning
care. The purpose of this stay is to focus on the caregivers becoming familiar with
their child’s needs. They do not have to be functioning independently at this time
because the nurses and therapists are still actively helping them learn about their
child’s care. This initial stay provides an opportunity to see how well the caregivers
are coping, if the caregivers are well prepared, or if more training is needed.
The next level of in-hospital family care stay should occur only after successful
completion of all required training, including the ventilator, respiratory-related
equipment, and feeding pumps. This stay usually lasts 24–48 h, although some care-
givers require longer periods. As with the initial stay, caregivers stay together in the
room with their child. However during this stay, in addition to the responsibilities
covered during the initial stay, they will also check the ventilator settings, respond
to all alarms, administer medications and all forms of therapy, and perform trache-
ostomy tube changes. Nursing staff and therapists should be available as a resource
to answer questions but are not expected to assist with the child’s care. Unlike the
initial in-hospital stay, this is not a time for continued teaching or for competency
checks to be completed. The main purpose of this stay is to provide the caregivers
with a simulation of being responsible for total care at home without any nursing
assistance. Having the caregivers repeat this stay may be necessary if the child’s
condition changes or if the prior stay reveals that they are not prepared to care for
their child alone, in which case additional training should be provided. In some
cases it becomes apparent that the caregivers may never be able to safely care for
their child alone at home. When this occurs other discharge options must be consid-
ered, including medical foster care or alternative sites of care.
Transportation Plan
Prior to discharge, caregivers must be prepared to transport and provide care for
their child outside of the home. A safe and predictable means of transportation
should be discussed with the caregivers. They should be given a checklist of all the
supplies and equipment that are needed for travel and advised to carry a mobile
phone with them when their child is outside the home. For oxygen or for devices
that require electrical or battery power, caregivers should ensure that they have
enough for at least double the expected time they anticipate they will be away.
If traveling in a car, the back seat is the safest place for the child to ride. When
the child has a tracheostomy in place or is requiring a mechanical ventilator, one
adult must ride in the back seat of the vehicle with the child. The family should be
encouraged to make frequent stops if traveling long distances. It may be helpful for
the family to apply for a parking permit for handicapped or disabled individuals if
they must carry multiple pieces of equipment when they are outside their home. An
emergency plan should be developed for the family to use if their child has a medi-
cal emergency while traveling and advise the family to keep a copy of this plan
inside the car.
Some facilities require the caregivers to take their child in a stroller on a
small trip inside or outside the hospital, such as to the cafeteria, gift shop, or
garden prior to discharge. It is also helpful for them to load equipment into their
family vehicle and properly secure the equipment to prevent it from rolling or
hitting other pieces. This helps prepare them for assembling the needed equip-
ment and familiarizes them with the steps necessary to safely transport their
child outside the home.
Emergency Plan for Home
Prior to discharge, the family should be given an emergency plan to follow at

home. This includes a checklist of all items that should be kept in the “Trach Go
Bag” which contains supplies for tracheostomy related emergencies inside and
outside of the home. A telephone list that includes the phone numbers of emer-
gency providers, physicians, medical equipment providers, and the home nurs-
ing agency should also be provided. Emergency medical services in the child’s
local community should be notified that a ventilator-dependent child is a resi-
dent at that particular address. The local electric company is also notified that
the home has a child who requires an electrically powered ventilator. Figure 6.4
is an example of a telephone contact list that could be used in the home of a
ventilator-dependent child. Written plans on managing an acute pulmonary
exacerbation, an airway obstruction, or cardiac emergency should be established
and reviewed prior to discharge.
TELEPHONE CONTACT LIST
COMMUNITY CONTACTS PHONE NUMBER
Ambulance – Police – Fire 9-1-1
Hospital Emergency Department ________________________
Electric Company ________________________
Gas Company ________________________
Water Company ________________________
Phone Company ________________________
Pharmacy: ______________________________________ ________________________
Home Nursing Agency: ____________________________ ________________________
Respiratory Equipment Company: ___________________ ________________________
Feeds/Enteral Company: ___________________________ ________________________
Insurance Case Manager: ___________________________ ________________________
HOSPITAL – CLINIC CONTACTS PHONE NUMBER
Pediatrician: Dr. _________________________________ ________________________
Pulmonologist: Dr. _______________________________ ________________________
Specialist: Dr. ___________________________________ ________________________
Nurse Practitioner: ______________________________

_ ________________________
Social Worker: __________________________________ ________________________
Respiratory Therapist: ____________________________ ________________________
Speech Therapist: ___________________________

_____ ________________________
Physical Therapist: _______________________________ ________________________
Occupational Therapist: ___________________________ ________________________
Fig. 6.4 Telephone contact list for home
Preparing the Home
In addition to correcting any issues that were found during the home safety assess-
ment and the evaluation by the nursing agency, the healthcare team should assist the
family in preparing the home for the child’s return. Occasionally there are changes
or home modifications to be made that will take several days or weeks to complete,
such as building a wheelchair ramp, widening doorways, or providing grounded

electrical outlets. In some cases the home environment is so unacceptable that the
family must move to another location before their child can be discharged. To pre-
vent delaying the discharge, it is wise to get an early start in preparing the home.
The ventilator-dependent child should have a private room and bed that is not
shared with caregivers or siblings. This is necessary so that nursing staff can stay
in the room with the child during sleep hours. The room must be large enough to
accommodate a crib or bed and all medical equipment. As the equipment generates
heat, a small room may become uncomfortably warm. Space must be available
around the bed so that respiratory treatments and other therapies can be provided.
An area where supplies and medications can be stored must be available, organiz-
ing the supplies with those used daily in one area and the monthly supplies in
another area can be useful. Rolling carts and cabinets with multiple drawers are
helpful in keeping equipment and supplies organized and readily available. Placing
labels on the drawers assists nursing staff in finding items and in putting supplies
away. Provide an easily reached area near the bed where emergency equipment,
such as the Trach Go Bag and the suction machine, can be placed. While in the
home, even during the hours of sleep, nurses are expected to stay awake and closely
monitor the child. A comfortable chair is needed near the bed for the nurse to use.
Designate an area in the home where reusable equipment can be cleaned and dried.
This is often in a kitchen or bath where a sink is available.
Preparing for Outpatient Care
When the child is meeting the criteria for discharge from hospital to home the medi-
cal team begins working with the family on community integration. According to
Boroughs and Dougherty, “Successful discharge of ventilator-dependent children
from hospital to home can be traced to a smooth, collaborative effort by a skilled
team of physicians, nurses, social workers, therapists, and family members.” [30]
The same need for coordination of care, advocacy, and communication that the
families experience in a hospital setting is equally important in the community.
Child Life Education Specialists
Child life educators use creative play and educational materials about procedures
and treatments to help alleviate children’s stress and address psychological con-
cerns. They also coordinate events and facilitate interaction between patients and
staff. Child life educators work closely with parents and siblings to educate them
about the healthcare process. This may be in the form of providing information
about surgeries and other medical procedures, leading hospital tours, and assisting
with communication between the family and healthcare providers.
Child life educators play a key role in the child’s ability to adapt to surround-
ings outside of the hospital setting. During the hospitalization the child life edu-
cator coordinates and assists with taking the child on activities outside of the
hospital room. These may include trips to hospital playrooms, outside play
areas, and other places within the hospital that are unfamiliar to the child.
Including the parents and other family members on these trips is an essential
part of preparing them for living at home. These outings allow the child to
become familiar with and slowly adjust to unknown environments that may ini-
tially feel threatening. Child life educators also strive to help families adjust to
taking their child to places outside of the hospital. This can include trips to
malls, parks, restaurants, and church. The goal is to provide the family with the
necessary tools that allow their child to feel comfortable in normal everyday
socialization outside of a hospital setting.
Preparation for School-Based Education
Many ventilator-dependent children will attend school once they are discharged
home. Nurses or other caregivers can function as aides to these children while in the
school setting. As previously discussed, these children are often discharged home
with 24 h coverage of home nursing. Once they reach elementary school age the
tendency is for nursing coverage to be reduced significantly. The role of the school
nurse becomes vital for the integration of technology-dependent children into the
school setting. Meeting their educational needs is a challenge for parents, educators,
and the medical team. Prior to discharge it is often helpful to discuss the needs of
the child with the school staff, including the teachers and school nurse. In some
cases, especially for children with a tracheostomy or enteral feedings, the school
personnel should be provided with training that is specific to that child’s equipment
and needs [2].
The Individuals with Disabilities Education Act (IDEA) ensures educational
and related services for students with special needs. However the polices set forth
from this act fail to address the entire scope of education and health-related
requirements of children who are chronically ill or technology-dependent [31,
32]. School systems rely heavily on guidelines and policy mandates for this
patient population. In the absence of guidelines specifically for respiratory tech-
nology-dependent children, some schools will not serve their needs appropriately
or, even worse, refuse to admit them into the school system [31]. Education place-
ment for these children continues to be highly dependent on the available
resources, which are often affected by a child’s geographic location and state and
federal funding for such programs. Due to the vast number of diagnoses that can
result in a child being ventilator-dependent there is little to support what is the
best educational placement for these children. There continues to be a small popu-
lation of ventilator-dependent children who receive home-based services either
because they are not of school age or because their disability classification makes
it challenging for them to attend public or private schools.
Researchers from the University of Kansas looked at the types of educational

placement and services these children received within the school system. The
study showed that school-based students spent from 7.5 to 40 h per week in
school, while home-based students received 1–20 h per week of educational ser-
vice, with the average equaling 7.9 h per week. The study also reported that the
most important issues affecting placement were academic needs, socialization
needs, healthcare needs, psychological/emotional needs, and therapy needs for
the child. Educational placement was found to be determined by not any one fac-
tor but a multitude of factors that when considered by educators and parents in
collaboration can increase the likelihood of years of satisfaction in this student
population within the school setting [31]. Many parents feel that some form of
school program is essential because it helps normalize the childhood experience.
Outpatient Medical Team and Clinic Visits
Once a ventilator-dependent child is discharged home, the child will require a regular
follow-up by the outpatient medical team responsible for their pulmonary care. Children
with tracheostomies require follow-up with Otolaryngology and most medically com-
plex, ventilator-dependent children require outpatient follow-up by other specialty ser-
vices (e.g., Cardiology, Neurology, etc.). The outpatient pulmonary healthcare team
may be different from that in the hospital. There may be some individuals in the outpa-
tient setting that were also involved with the transition from the hospital to home.
However in most cases the majority of the outpatient staff will be unfamiliar faces to the
family and the child. In many hospitals this is the team who the family will contact for
questions and concerns once their child is home. Therefore, if possible, it is helpful for
the family and child to meet the members of this team prior to discharge home. Models
of outpatient care for medically complex children are discussed in detail in Chap. 7.
Prior to discharge family and caregivers should be provided with information
concerning their outpatient clinic visits, detailed office-hours and after-hours contact
information and clear instructions concerning indications for calling and whom to
call for specific issues (e.g., equipment issues, illness, non-respiratory medical ques-
tions or illness, etc.). This should include the location of the outpatient clinics, how
to prepare for and schedule a clinic visit, and what to expect during the visits.
Table 6.6 is a list of what the family may be required to bring to a clinic visit.
Count Down to Discharge Day
Although caregivers may have been anxiously looking forward to the day they can
take their child home, they tend to become more anxious the closer it gets to that
date. Discharge day can become emotional and quite intense for some families. It is
best to arrange discharge for a day that benefits the family and guarantees adequate
staffing from the nursing agency and the home medical equipment company.
Table 6.6 Items the ventilator-dependent child brings to clinic visits

• Actual medications or list of medications and dosages
• Name and contact phone numbers for the home equipment company and home nursing
agency
• Ventilator, circuit, electrical adaptor, battery (bring even if child only uses at night)
• Trach Go Bag—Containing all disposable supplies required for managing tracheostomy-
related emergencies (e.g., extra tracheostomy tube and obturator, a size smaller tracheostomy
tube, tracheostomy ties, suction catheters, lubricant)
• Face mask (if using noninvasive ventilation)
• Portable oxygen (if using)
• Portable suction machine
• Extra feeds, diapers, medications (to use if visit takes longer than expected)
Communicate Expectations
Planning a meeting with the caregivers and the multidisciplinary discharge team
within 1–2 weeks of discharge is helpful in keeping the family and the healthcare
team on schedule. A representative from the home medical equipment company,
nursing agency, and school may be invited to the meeting. The purpose of the meet-
ing is to communicate expectations to the caregivers about activities that will take
place on the days leading up to discharge as well as what will occur on discharge
day. This meeting also provides the caregivers with an opportunity to ask questions
and a chance for the entire team to review the plan of care with the family.
Advise the family on what specific pieces of home equipment must be brought to
the hospital to use during the transport home. Many hospitals and home medical
equipment companies have policies requiring the child to be maintained, prior to
hospital discharge, on the actual mechanical ventilator that will be used in the home.
This often has a specified time period of 24–72 h prior to discharge. In addition to
the ventilator and circuit, the family should be reminded to have a car seat available
for the ride home. This is required if the child is transporting home in an ambulance
or in the family vehicle. The family should also meet with hospital financial coun-
selors if there are any issues concerning insurance or Medicaid.
Transportation and Arrival Home
Transportation home from the hospital following initiation of chronic mechanical

ventilation may be either in an ambulance or in the child’s family vehicle. Whichever
one is utilized tends to be determined by several factors including hospital policy,
insurance or Medicaid reimbursement, proximity of the home and hospital, parental
preference, and the child’s medical diagnosis. In most situations discharge is
planned to occur as early in the day as possible. This allows for more time to transi-
tion the child inside the home and for the home medical equipment company and
nursing agency staff to attend to the child.
The healthcare staff from the medical equipment company and the nurse should
be at the home upon the child’s arrival. They should assist the family in moving the
child and all equipment into the home.
Barriers to Discharge
In spite of beginning early, having a comprehensive discharge plan in place, and working
with a skilled multidisciplinary team, significant delays in discharge from the hospital to
home still exist. The most common barriers to discharge revolve around (1) instability in
the child’s medical condition, (2) the inability of family/caregivers to provide safe care in
Table 6.7 Barriers to Unstable Medical Condition of the Child

discharge of the ventilator-
• Unstable airway
dependent child
• Respiratory support needs exceed
appropriate levels for home
• Unable to transition to home-type ventilator
Family Barriers
• Inability/unwilling to learn and participate in
care
• Failure to complete required training
• Unable to meet requirement of two
caregivers
• Unreliable transportation
• Not adhering to medical regimen
• Unstable financial status
• Failure to cooperate with home medical
equipment company
• Failure to cooperate with home nursing
agency
Equipment Barriers
• Inadequate funding for equipment
• Unavailable equipment
• Unsafe home environment
• Lack of equipment providers that accept
ventilator-dependent children
Home Nursing Barriers
• Insufficient nursing staff
• Unqualified nursing staff
• Incomplete or delayed funding
• Unsuitable home environment
the home, (3) unqualified or insufficient home nursing staff, (4) incomplete or delayed
funding of home care, (5) an unsuitable home environment, and (6) lack of or delays in
obtaining home medical equipment [4]. Early identification of the barriers and open com-
munication between the family and the medical team are the best ways to minimize the
risk of a discharge being delayed. Table 6.7 lists barriers to discharge [33].
Future Needs
Transitioning a ventilator-dependent child from the hospital to home requires a com-

plex, coordinated interaction of multiple care and equipment providers, both inside
and outside of the hospital, and there are numerous opportunities for pitfalls and
delays. The key components to a smooth and successful transition may well be to
employ a multidisciplinary team approach and begin the process as early as possible.
It is also important to consider the medical and social needs of the child and caregivers
and to check often for their understanding of the discharge plans. Allow caregivers
and the child as much self-determination as possible in planning for care and needs.
Ensuring that the home and community services are adequate following discharge is
also an essential component to maintaining safe and competent care at home.
As we continue to have more children discharged home dependent on long-term
mechanical ventilation, additional clinical research is needed to better understand
the needs of this diverse patient population. There is currently little research exam-
ining patterns of discharge planning for specific clinical subgroups [34]. Also
needed are recognized standards of practice in the discharge process and a better
understanding of reimbursement and coverage [13]. This includes standardized cri-
teria for caregiver competence and how to best demonstrate accomplished skills [2].
Further research is also needed to develop and implement pre-discharge interven-
tions that will promote the physical and mental well-being of caregivers. Additional
research topics may include the impact of involving the home nursing staff in the
child’s care prior to discharge—whether this would affect the high turnover rate
among skilled home pediatric nurses—and the use of simulation educational mod-
ules for caregiver and home nursing staff.
References
1. Simon TD, Berry J, Feudtner C, et al. Children with complex chronic conditions in inpatient
hospital settings in the United States. Pediatrics. 2010;126:647–55.
2. Elias ER, Murphy NA, Council on Children with Disabilities. From the American Academy of
Pediatrics Clinical Report: home care of children and youth with complex health care needs
and technology dependencies. Pediatrics. 2012;129:996–1005.
3. Hammer J. Home mechanical ventilation in children: indications and practical aspects.
Schweiz Med Wochenschr. 2000;130:1894–902.
4. Dumas HM. Rehabilitation considerations for children dependent on long-term mechanical
ventilation. ISRN Rehabilitation. 2012;2012:756103.
5. Kohorst J. Transitioning the ventilator-dependent patient from the hospital to home. Medscape.
2005.
6. Hefner JL, Tsai WC. Ventilator-dependent children and the health services system. Unmet
needs and coordination of care. Ann Am Thorac Soc. 2013;10:482–9.
7. Boroughs DS, Dougherty JA. Decreasing accidental mortality of ventilator-dependent chil-
dren at home: a call to action. Home Healthc Nurse. 2012;30:103–11.
8. Sherman JM, Davis S, Albamonte-Petrick S, et al. Care of the child with a chronic tracheostomy.
This official statement of the American Thoracic Society was adopted by the ATS Board of
Directors, July 1999. Am J Respir Crit Care Med. 2000;161(1):297–308.
9. Cousino MK, Hazen RA. Parenting stress among caregivers of children with chronic illness: a
systematic review. J Pediatr Psychol. 2013;38:809–28.
10. Capen CL, Dedlow ER. Discharging ventilator-dependent children: a continuing challenge.
J Pediatr Nurs. 1998;3:175–84.
11. Heaton J, Noyes J, Sloper P, et al. Families’ experiences of caring for technology-dependent
children: a temporal perspective. Health Soc Care Community. 2005;13:441–50.
12. Aday LA, Wegener DH. Home care for ventilator-assisted children: implications for the chil-
dren, their families, and health policy. Child Health Care. 1988;17:112–20.
13. Lewarski BS, Gay P. Current issues in home mechanical ventilation. Chest. 2007;132:671–6.
14. Kuo DZ, Houtrow AJ, Arango P, et al. Family-centered care: current applications and future
directions in pediatric health care. Matern Child Health J. 2012;16(2):297–305.
15. Tamasitis J, Shesser L. A hospital-to-home program for ventilator-dependent children sets the
standard of care. AARC Times. 2012;33(6):44–52.
16. American Thoracic Society Document. Statement on home care for patients with respiratory
disorders. Am J Respir Crit Care Med. 2005;171:1443–74.
17. Kun SS, Edwards JD, Ward SLD, Keens TG. Hospital readmissions for newly discharged pedi-
atric home mechanical ventilation patients. Pediatr Pulmonol. 2012;47(4):409–14.
18. Gershon RRM, Pogorselska M, Qureshi KA, et al. Home health care patients and safety hazards in
the home: preliminary findings. In: Henrcksen K, Battles JB, Keyes MA, Grady ML, editors.
Advances in patient safety: new directions and alternative approaches, assessment. 1st ed. Rockville,
MD: Agency for Health Care Research and Quality; 2008. AHRQ Publication No. 08-0034-1.
19. Markkanen P, Quinn M, Galligan C, et al. There’s no place like home: a qualitative study of the
working conditions of home health care providers. J Occup Environ Med. 2007;49:327–37.
20. Abresch RT, Seyden NK, Wineinger MA. Quality of life. Issues for persons with neuromus-
cular diseases. Phys Med Rehabil Clin N Am. 1998;9:233–48.
21. Carnevale FA, Alexander E, Davis M, et al. Daily living with distress and enrichment: the moral
experience of families with ventilator-assisted children at home. Pediatrics. 2006;117:e48–60.
22. Meltzer LJ, Boroughs DS, Downes JJ. The relationship between home nursing coverage, sleep, and
day-time functioning in parents of ventilator-assisted children. J Pediatr Nurs. 2010;25:250–7.
23. Reeves E, Timmons S, Dampier S. Parents’ experiences of negotiating care for their
technology-dependent child. J Child Health Care. 2006;10:228–39.
24. Tearl DK, Hertzog JH. Home discharge of technology-dependent children: evaluation of a
respiratory therapist driven family education program. Respir Care. 2007;52:171–6.
25. Huang TT, Peng JM. Role adaptation of family caregivers for ventilator-dependent patients:
transition from respiratory care ward to home. J Clin Nurs. 2010;19:1686–94.
26. Bakewell-Sachs S, Porth S. Discharge planning and home care of the technology-dependent
infant. J Obstet Gynecol Neonatal Nurs. 1995;24:77–83. doi:10.1111/j.1552-6909.1995.
tb02382.x.
27. Hill DS. Coordinating a multidisciplinary discharge for the technology-dependent child based
on parental needs. Issues Compr Pediatr Nurs. 1993;16:229–37.
28. Simonds AK. Risk management of the home ventilator dependent patient. Thorax. 2006;61:369–71.
29. Graf JM, Montagnino BA, Hueckel R, McPherson ML. Children with new tracheostomies: plan-
ning for education and common impediments to discharge. Pediatr Pulmonol. 2008;43:788–94.
30. Boroughs DS, Dougherty J. A multidisciplinary approach to the care of the ventilator-
dependent child at home. A case study. Home Healthc Nurse. 2010;28:24–8.
31. Jones DE, Clatterbuck C, Marquis JG, et al. Educational placements for children who are
ventilator assisted. Except Child. 1996;63:47–57.
32. Walker DK, Jacobs FH. Chronically ill children in school. Peabody J Educ. 1984;61:28–74.
33. Noyes J. Barriers that delay children and young people who are dependent on mechanical
ventilators from being discharged from hospital. J Clin Nurs. 2002;11:2–11.
34. Benneyworth BD, Gebremariam A, Clark SJ, et al. Inpatient health care utilization for children
dependent on long-term mechanical ventilation. Pediatrics. 2011;27:e1533–41.
Chapter 7
The Model of Care for the Ventilator-
Dependent Child
Dennis Z. Kuo and John L. Carroll
Chapter Objectives
• Learn the importance of the Medical Home and family-centered care for the
ventilator-dependent child
• Learn how to best coordinate care between tertiary and primary care settings
Sean is a five-month-old child who was born at 25 weeks gestation. Due to sur-
factant deficiency and tracheomalacia, he received a tracheostomy and receives
24/7 ventilation. He is also dependent on a gastrostomy tube for feedings. He has
16 h of nursing and lives 75 miles from the children’s hospital where long-term
ventilator support was initiated. The second night Sean is home, he vomits his gas-
trostomy tube feeds. The third night home his parents notice that Sean needed to be
suctioned every 2 h and his oxygen needs rose from 0.5 to 2 L. They turn the oxygen
up because they don’t want to bother anyone. The oxygen saturation monitor alarms
every 30 min. The next day his mother goes to work, concerned that she is going to
lose her job because of the time off. She takes the car. Home nursing arrives, but
Sean has developed a low-grade fever and they seem to be running out of suction
catheters. His father calls the primary care doctor, a friend they’ve known for 4
years because of Sean’s older sister. The doctor has never seen Sean and hasn’t
received the discharge summary yet, and suggests calling the pulmonologist instead.
Meanwhile, Sean’s oxygen saturations are now 91 %. His father calls 911.
D.Z. Kuo, M.D., M.H.S.

Center for Applied Research and Evaluation, Arkansas Children’s Hospital,
1 Children’s Way, Little Rock, AR 72202, USA
J.L. Carroll, M.D. (*)
Division of Pediatric Pulmonary and Sleep Medicine, University of Arkansas for Medical
Sciences, Little Rock, AR, USA
e-mail: CarrollJohnL@uams.edu

122 D.Z. Kuo and J.L. Carroll
Why Is This Chapter Important?
Sean’s first medical crisis at home appears to require early involvement of a

pulmonary care specialist to prevent being rehospitalized. Could his vomiting have
caused aspiration pneumonia? Whose responsibility is it to monitor changes in his
symptoms, change his formula, or titrate his enterally administered medications?
Might his medical event be avoided if his feeds were run continuously or if his feeds
were run more slowly through a feeding pump? Finally, could Sean’s impending
hospitalization been prevented had the parents reached a pulmonologist the night
before?
This chapter discusses how to ensure that the ventilator-dependent child
effectively receives the best possible healthcare while residing in the home setting.
Medical technology has allowed increasing numbers of children with ventilator
dependence to reside at home, achieving what was unthinkable even just a few years
ago. There is little doubt that, all else being equal, that home is the best place for the
ventilator-dependent child and the family. However, the home setting is full of
unpredictable challenges, not the least of which is the ability of the family to man-
age what can accurately be referred to, in Sean’s case, as continuous life support!
The number of children who are discharged to home while on long-term venti-
lator support is increasing [1], along with the indications for initiating home ventila-
tion. Indications for home ventilator dependence include primary lung disease, chest
wall disorders, muscle weakness, respiratory control disorders, or a combination of
the above. Many such children also have accompanying non-pulmonary medical
disorders. Some of these disorders may impact the overall health and functioning of
the child, such as seizure disorders and severe neurologic impairment; feeding
intolerance; and cardiac disorders. The prognosis of the ventilator dependence thus
depends not only on the underlying respiratory system disease, but also the severity
of the accompanying medical concerns. Some children improve and are able to
discontinue use of the ventilator in a short period of time; others with degenerative
disorders continue to worsen. Many children are in between the two extremes.
Regardless, all ventilator-dependent children share some of the highest levels of
medical fragility, requiring a very high learning curve by families for home
management. These family caregivers assume a tremendous caregiving burden, due
to the time, technical expertise, and financial commitment needed to care for a
ventilator-dependent child [2, 3]. The caregiving burden often comes at the expense
of their personal health, employment, and family time, and ultimately can impact
the ability of the best-laid care plans to be effectively carried out.
Ventilator-dependent children at home require a potentially mind-boggling array of
services and surveillance in order to grow and thrive happily. The pulmonologist or
intensivist is responsible for the initiation of the ventilator assistance, and the role of the
pulmonary care specialist certainly is crucial to the long-term health and survival of
the child. The pulmonary team will develop deep and longstanding relationships with
the family because of the frequency and intensity of the required services. However, a
typical ventilator-dependent child will require caregiving services from his parents,
7 The Model of Care for the Ventilator-Dependent Child 123
siblings, neighbors and friends; primary care physician, nurses, respiratory therapists,
medical equipment companies, pharmacists, social worker, and other specialists; a
tertiary care facility and a place to receive acute care; teachers and therapists; trans-
portation; legal and financial support; adequate insurance; and community services.
Individually, all these services are important, but within the context of a child’s
life, each individual service is just one player out of many. All of these services must
work competently and in coordination with each other for a child and family to reach
their maximum potential. The experience of all of these services with a ventilator-
dependent child may vary considerably.
Practically speaking, the family must learn how to be proactive and recognize
problems before they happen or get worse; they must know who to call, when to
call, where to call, how to call, and understand the instructions they are provided.
Similarly, all services that participate in caring for a ventilator-dependent child must
be comfortable and competent with a high level of medical fragility.
How do we put all of these care components together so families know what they
need to do in a situation like Sean’s?
Introduction to Care Models for Ventilator-Dependent

Children
Home ventilation is a relatively recent development. However, care models for chil-
dren with disabilities and special healthcare needs have been evolving over the last
50 years. The experience and lessons learned from these care models can be applied
to ventilator-dependent children.
In 1998, the Maternal and Child Health Bureau, Health Resources and Services
Administration, defined children and youth with special healthcare needs (CYSHCN)
as:
Children with special healthcare needs are those who have or are at increased
risk for a chronic physical, developmental, behavioral, or emotional condition and
who also require health and related services of a type or amount beyond that
required by children generally [4].
This definition of CYSHCN is thus not dependent on any particular diagnosis.
Rather, the definition spans a spectrum of diagnoses and disabilities, from asthma to
spina bifida to autism and undiagnosed conditions. Ventilator-dependent children
are at the extreme end of service need and intensity. However, models of care devel-
oped for CYSHCN can—and should—be applied to ventilator-dependent children.
In the past, many CYSHCN lived in institutional settings. Deinstitutionalization of
children with disabilities through the 1950s and 1960s led to families advocating for
greater support services at home. Family advocacy led to a number of legislative victo-
ries, attention from the Surgeon General’s office, and national recognition in 1987 for
a “family-centered, community-based system of care.” [5] Since then, the need for a
family-centered, community-based, system of care for children with disabilities and
special healthcare needs has been affirmed as a national priority, as evidenced by

Healthy People 2010 and 2020 and the Department of Health and Human Services.
This has led to legislation, funding, and initiatives earmarked for family support groups,
electronic medical records, education, payment reform, and other supportive initia-
tives. Families of children with special healthcare needs, however, report that the care
system continues to be fragmented and is difficult to navigate [6, 7].
The medical care of the ventilator-dependent child is initiated within the tertiary
care center. After discharge, the pulmonary team is essential for home management
but must be integrated smoothly with other support services to achieve effective
care delivery. It is essential that healthcare providers who care for the ventilator-
dependent child understand the historical context, current understanding, and future
directions on the optimal care model for the child with disabilities and special
healthcare needs. No one model of care is optimal for all situations, but the theo-
retical framework is the same. Executing the model of care depends greatly on the
family involvement, knowledge of the providers involved, and communication
among each other in a co-management model of care.
The pulmonary team is in a particularly influential position to partner with the
family to navigate the healthcare system. Initially, the pulmonary team will work
closely with families to teach and support home medical management of life-
supporting technology. The pulmonary team is also in a position to learn about the
psychosocial challenges families face and counsel about available services, includ-
ing services that are outside the scope of care for the pulmonary team. It is impor-
tant that the pulmonary team is aware of the care components of the ideal care
model that families will need, and how to implement this care model. In many cases,
an ideal integrated care service model may not locally exist, leaving the pulmonary
team to coordinate the multiple components of care.
The Medical Home for the Ventilator-Dependent Child
Macy is a two-year-old child with spinal muscular atrophy and is ventilator-

dependent. She presents for her routine pulmonary follow-up and her mother says all
is well and her shots are up to date. The alert pulmonary fellow pulls her vaccine
records from the state registry and discovered she never received any of her one year
vaccines, even though she has received influenza vaccines at the pulmonary clinic.
Her mother appears bewildered and says she cannot remember the last time she saw
her primary care physician because she has so many visits to the children’s hospital.
You further discover that her ranitidine dose hasn’t been adjusted for weight since she
was six months old. Macy’s mother admits that she has trouble making appointments
because she works and she has two older children, and she has no other support.
Macy’s care has fallen through the cracks, so to speak. Who was responsible
for making sure that Macy received her immunizations? What about adjusting
her ranitidine dose? Did anyone screen Macy’s mother for financial needs? What
about maternal depression?
The most well-known of comprehensive care models for CYSHCN is the Medical
Home. The Medical Home care concept was first mentioned in 1967 by the American
Academy of Pediatrics (AAP) as a central place for medical records for children with
special healthcare needs and disabilities [8]. The subsequent two decades found a
number of community-based initiatives dedicated to improving the medical care
delivery for CYSHCN, generally wrapped around the primary care-based Medical
Home. This led to development and refinement of the Medical Home concept towards
applying to all children. By 1992, the AAP declared that the Medical Home should be
the standard of care for all children and that all children should have a medical home.
Today, the Medical Home is defined by the AAP as a concept of care delivery,
rather than an actual locus of care or a building or specific provider. The Medical
Home describes care that is: [9]
• Accessible
• Comprehensive
• Compassionate
• Continuous
• Coordinated
• Culturally Competent
• Family-Centered
It is critical to emphasize that the Medical Home concept, as originally envi-
sioned by the AAP, is not synonymous with the primary care setting. The AAP does
not specifically state that the Medical Home should be located in the primary care
setting, nor is the care concept localized to one specific setting. Rather, the Medical
Home is the concept of care delivery that encompasses all medical care sites.
However, the AAP states that the Medical Home “should be delivered or directed by
well-trained physicians who provide primary care and help to manage and facilitate
essentially all aspects of pediatric care.” [9] The statement directly implies that the
continuity, relationships, and community that the primary care setting provides
are essential to providing the Medical Home. Thus, the Medical Home MUST have
a strong primary care involvement.
The specific steps necessary to provide care consistent with the Medical Home
are not always consistently defined and may likely vary between practices and set-
tings. The AAP concept of the Medical Home also leaves the question open as to
whether a specialty service can be responsible for directing the Medical Home for a
particular child, although the AAP definition does emphasize that the primary care
physician must be involved at some level. The Medical Home Index (MHI) [10–12]
is an example of a tool designed for practices to assess their level of delivering
Medical Home services consistent with the AAP concept. Practices that had higher
MHI scores demonstrated lower emergency department use [10]. In addition, a
review by Homer [13] found broad applicability of the Medical Home concept asso-
ciated with improved child and family outcomes specifically for children with spe-
cial healthcare needs [13]. Many studies to date have been tempered by weak
designs and inconsistent conceptualizations of the Medical Home.
Nonetheless, the Medical Home concept—sometimes referred to as the

Patient-Centered Medical Home—has found its way into national and legislative
priorities, and subsequently tied to healthcare reform activities. Healthy People
2020 Objective MICH-30.2 is to “increase the proportion of children with special
healthcare needs who have access to a medical home.” [14] The Joint Principles of
the Patient-Centered Medical Home, published in 2007 and signed by multiple
medical societies, acknowledged the importance of the Medical Home for adults
for the first time [15]. However, the Joint Principles specifically state that the
PCMH is an approach to providing “comprehensive primary care,” and while it
does not specify where the primary care should be located, the stipulation is clear
about the director role of the primary care physician. From here, further discussion
about the Medical Home has focused on the role of the primary care physician,
including in the 2009 Affordable Care Act legislation, primary care practice trans-
formation efforts by groups such as TransforMED, and standards for operational-
izing the National Committee for Quality Assurance (NCQA), with implications
for tying higher Medical Home assessment scores to payments for primary care
services.
Given the importance of the Medical Home to the national dialogue on health-
care reform, research, and legislation, it is clear that primary care services should
be active participants within all care models for children and adults alike. For
the ventilator-dependent child, however, the medical and technical expertise of the
pulmonologist is crucial to the health and well-being of the child. Implementing a
Medical Home thus leads to these specific questions:
• What services should the primary care setting provide for the ventilator-
dependent child?
• What services should the pulmonologist provide for the ventilator-dependent
child?
• Who is responsible for ensuring that the primary care setting is capable and
willing to provide appropriate services for the ventilator-dependent child?
• Who is responsible for ensuring that the Medical Home model of care is pro-
vided for the ventilator-dependent child?
The Medical Home specific to the ventilator-dependent child must be able to
deliver:
• Community-based primary care
• Specialty care and close involvement by the pulmonologist
• Technical support for tracheostomy and ventilator
• 24/7 access to care
• A central provider that is responsible for comprehensively assessing and manag-
ing all aspects of the child’s care
Finally, it is important to remember that children are not “little adults.” Stille
[16] and the Academic Pediatric Association (APA) delineated five specific charac-
teristics on how the pediatric Medical Home need to be considered in a different
light from adult Medical Homes [16]. The five “D” characteristics are:
• Developmental Change—children grow, develop, and require habilitation, not
rehabilitation
• Dependency—children are dependent on adults, and thus parents are essential
partners in ensuring care delivery
• Differential Epidemiology—children have a relatively large number of rare
chronic conditions, thus no “one size fits all”; moreover, pediatric subspecialists
tend to be located in academic medical centers, which may be far from where the
child lives.
• Demographic Patterns—children have disproportionate rates of poverty and
have disproportionate racial and ethnic diversity
• Dollars—overall costs of child healthcare are low but frequently have a long-
term investment over a life course
Specific to ventilator-dependent children, the 5 “Ds” are a reminder that the med-
ical needs of children vary over the life course of the child; parents are essential
partners; and the pulmonary team, critical for effective care delivery, may be located
far away from the residence of the child. Even if the pulmonary team is located near
the residence of the child, the team members may not be familiar with the numerous
community support services that the family engages with. In that scenario, the
community-based primary care physician may be more familiar with such services.
These issues are highly relevant when considering how to effectively deliver health-
care for the ventilator-dependent child at home.
How the System of Healthcare Appears to the Ventilator-

Dependent Child
Josiah is eight years old and ventilator-dependent due to thoracic dystrophy. He is

home schooled and acting out because of his frustrations with difficulty communi-
cating. His mother wants to know if there is a way to help him because she believes
“he’s much smarter than people think.” He gets speech therapy but his mother says
that they have only been working on his oral motor skills.
Clinical experience and emerging literature documents what families of
ventilator-dependent children have long known: the health and welfare of the child
depends highly on the quality of pulmonary care, primary care, and the community-
based services that reach far beyond the medical home setting. In fact, the Medical
Home is only one key component of the system of services that are needed to
Medical Other
home medical
Mental Insurance/
health financing
Spiritual
Social resources
organizations
Recreational
Transportation
Voluntary
services
programs
Family
with
CYSHCN
Education Juvenile
Informal supports justice
and services
Vocational Public
services safety
Housing Public
health
Fo es
rm a r vic
Co l sup
p ort s a n d s e
mm es
uni er vi c
ty b a
sed syste m of s
Fig. 7.1 A conceptual framework of the family-centered, community-based system of services for
children and youth with special healthcare needs. Reproduced with permission from Archives of
Pediatrics & Adolescent Medicine. 2007. 161(10):933-936. Copyright© 2007 American Medical
Association. All rights reserved
support the health and welfare of a child. Wagner’s Chronic Care Model, for
example, demonstrates that the Medical Home must exist within the context of a
supportive community of services and healthcare policies.
Figure 7.1 provided a conceptual framework of the “family-centered, community-
based system of services” for CYSHCN generally [17]. The center of the framework
is the family with CYSHCN, surrounded by informal supports and services. Beyond
that informal network of support services are the formal support services, which
includes the Medical Home—but also includes social services, education, voca-
tional services, housing, transportation, and insurance/financing, to name a few.
No framework of care has been derived directly for the ventilator-dependent
child up to this point. However, a framework developed by Cohen [18, 19] of the
child with medical complexity is instructive in understanding the care needs of the
ventilator-dependent child (Fig. 7.2) [18]. The Cohen framework defines medical
complexity as the presence of the following four domains of need:
• Chronic conditions
• Healthcare use
• High level of family-identified needs
• Functional limitations: technology dependence
Fig. 7.2 A framework of medical complexity. Reproduced with permission from Pediatrics, Vol.
127(3), Pages 529-538. Copyright © 2011 by the AAP
The framework applies well to the ventilator-dependent child, who will have a
chronic condition with technology dependence and high healthcare use. If anything, the
ventilator-dependent child epitomizes medical complexity due to the fragility of having
airway complications and a risk of sudden death. The ventilator-dependent child has
home nursing needs, high equipment needs, the need (often) for 24/7 monitoring, and in
some cases, the stigma of needing equipment that may limit the child’s ability to enjoy
a normal routine. All of these medical needs typically drives a high level of family-
identified needs, and the longer the duration of ventilation, the greater the needs [2].
However, it is family-identified needs—whether financial, psychosocial, trans-
portation—that rounds out the level of medical complexity. “Care mapping” is a
process in which families provide a diagram of all of the services that a child with
special healthcare needs. Figure 7.3 shows one example of the care map of a child
with special needs. A child’s care map provides the most complete illustration of the
level of healthcare utilization and family challenges.
The extreme level of family need—medical, financial, psychosocial—demands
the highest level of comprehensive care that successfully integrates all services that
the child may need. Primary care practices, by themselves, are typically not set up
to be able to provide the necessary level of comprehensive care services for the
ventilator-dependent child. We have already discussed how tertiary care centers
may not always provide Medical Home level services, as the scope of practice of the
Fig. 7.3 An example of a care map for a child with special healthcare needs. Reproduced with
permission from Cristin Lind. Copyright © 2012 Cristin Lind
individual specialty service is narrowly drawn. The pulmonologist, with rare

exception, is not delivering well child care or anticipatory guidance consistent with
primary care services, and many are not able to identify and coordinate the commu-
nity-level services needed for the care of the ventilator-dependent child. Who is thus
responsible for ensuring that the ventilator-dependent child receives the compre-
hensive care that he or she needs?
Unfortunately, the family frequently becomes the responsible entity by default.
Many families are not well-prepared to handle every aspect of the child’s care, due
to the myriad needs, stresses, and financial burden [7, 20]. It is also important to
recognize that the nature of family support typically changes over time, from infor-
mal supports during infancy to increasing levels of formal support by school age
[21]. The family also experiences “chronic sorrow” due to the perceived loss of a
healthy child, which may lead to outright depression of the parent caregiver [22].
Nevertheless, the family is ultimately responsible for the effective delivery of
healthcare. It becomes paramount, therefore, for providers to understand how to
meet the needs of families when considering how to deliver effective healthcare.
Meeting the needs of family, and providing family-centered care, is the key link to
being able to translate medical recommendations into effective care.
Ensuring Family-Centered Care for the Ventilator-

Dependent Child
Gladys is a 3-year-old child who is dependent on a ventilator due to severe broncho-

pulmonary dysplasia. Her parents speak little English and sometimes arrive with
their own interpreter, but sometimes they do not. She has missed multiple appoint-
ments and has had difficulty growing. There has been suspicion that she is not get-
ting her feedings and that her mother has been feeding her by mouth against medical
advice. You obtain a trained Spanish interpreter and cultural broker and her mother
is able to tell you that Gladys vomits her formula regularly and pulls out her gas-
trostomy tube, but the doctors keep increasing the amount of formula because she
does not grow. In addition, she has not had a good swallowing evaluation and her
mother thinks she is ready to eat more by mouth.
For Gladys, the pulmonary management has been compromised by a number of
issues that the family readily identifies. Centering the care approach on the family-
needs is the essence of family-centered care (FCC). Although frequently misunder-
stood, FCC is increasingly recognized as key to providing effective care for the
ventilator-dependent child. It is important to understand the principles of FCC in
order to ensure family-centered care for the ventilator-dependent child.
FCC has been described, at its core, as a partnership approach to healthcare
decision-making. In recent years, FCC—and a related term, patient-centered
care—has received increasing attention as not only the standard of care for all per-
sons but also crucial to patient health, satisfaction, and healthcare quality. Kuo
et al. [23] examined and compiled general principles of FCC in the literature,
which includes: [23]
• Information sharing
• Respecting and honoring differences
• Partnership and collaboration
• Negotiation
• Care in context of family and community
Like the Medical Home concept, the FCC principles were developed through con-
sensus, but do not necessarily translate into specific clinical practices. Kuhlthau [24]
reviewed practices that were consistent with FCC principles as related to care of the
child with special needs, finding improvement on health literacy and self-management;
other reviews similarly suggest improved child health and behaviors [24]. Empowered
families are considered essential to delivering chronic care; family knowledge and
empowerment are suggested as the mediating factors towards improved health out-
comes [25] and the key mediating outcomes in Wagner’s Chronic Care Model [26].
FCC is especially important for effectively caring for the ventilator-dependent
child because of the enhanced caregiving role that parents must play for the child.
The caregiving role is 24/7. The airway and the life-supporting ventilation must
be managed by the family and the risks of a tracheostomy and the technology
dependence are assumed by the family. There are always sets of physician and
nursing instructions that need to be understood, accepted, and implemented by the
family. With everything to manage, undoubtedly every family will encounter a
stage where they may not comprehend medical advice, prioritize other needs, or
simply disagree with the recommendations. Sometimes this family is labeled a
“bad” or “noncompliant” family. We urge avoiding such labels.
With medical fragility depending so heavily on family home care management, it
is critical to create any care plan through meeting the family’s caregiving needs and
working in partnership with family. The FCC approach would not inherently judge
the family as “noncompliant.” Rather, the FCC approach emphasizes a partnership
approach to healthcare. The very term “partnership” emphasizes that the family and
provider bring their mutual strengths to decision-making. This is a frequently misun-
derstood concept! A common misconception is that FCC means families make the
final decision. Rather, respecting mutual strength acknowledges that the physician
has the medical expertise while acknowledging that the family usually knows the
home situation, the child’s behavior, the caregivers’ abilities and the caregiving needs
better. These factors all need to be taken into account when jointly making a care
plan. There are very few medical care plans that should be made unilaterally. In
Gladys’s case, unilateral recommendations for feeding did not consider the impact
on the family. As a consequence, Gladys was not able to receive the total volume.
A negotiated plan for feeding frequency could have improved the outcome.
Ensuring FCC for the ventilator-dependent child is achieved through everyday
actions, not by implementing a specific intervention or tool. For example, “person-
first” language and respectfully discussing the family’s needs among team members
is critical. This approach is particularly crucial for the leader of the medical team,
as the leader sets the tone for the remainder of the team. Examples include respect-
ful language, joint consideration of care plans, family presence during procedures
when feasible, and integration of families at all levels of care between bedside,
institution and community. Care teams should involve family input, potentially in a
formal advisory capacity, and leadership should actively support the involvement of
families at an administrative level. Physicians and families frequently have differing
understanding of the needs of the child [27], thus ensuring FCC is critical to proper
assessment, consideration, and addressing of family-needs that ensures good care.
National Priorities: The Maternal and Child Health Bureau

Six Core Outcomes for CYSHCN
As previously noted, families of children with disabilities and special healthcare

needs report that fragmentation of care and healthcare system navigation are the
biggest challenges to implementing effective healthcare delivery. It is reasonable to
assume that the families of ventilator-dependent children are similar in their needs.
Families actually report that the direct medical care can actually be one of the easier
aspects of caregiving for the child with special healthcare needs [21]. The system
navigation is the toughest aspect to meet. The pulmonologist needs to recognize

that meeting the needs of families of ventilator-dependent children MUST
address the system navigation and care fragmentation issues.
National oversight for implementation of a broad system of care is under the
jurisdiction of the Maternal and Child Health Bureau (MCHB), Health Resources
and Services Administration, Department of Health and Human Services. MCHB is
the federal-level agency responsible for maternal and child health programming,
and funds are authorized through Title V of the Social Security Act of 1935.
Since 1989, the Maternal and Child Health Bureau (MCHB) has been authorized
through the Omnibus Budget Reconciliation Act (P.L. 101-239) to address the core
elements of community-based systems of care for CYSHCN. In response, state Title
V CYSHCN groups work with family advocates, providers, and other partners to
implement six Core Outcomes of a system of services based on evidence-based
practices for CYSHCN. The six MCHB Core Outcomes, developed through family
and professional consensus, are: [28]
• Family–professional partnerships at all levels of decision-making
• Access to coordinated, ongoing, comprehensive care within a medical home
• Adequate private and/or public insurance to pay for needed services
• Early and continuous screening for special healthcare needs
• Organization of community-based service systems for easy use
• Youth transition to adult healthcare, work, and independence.
States report on meeting the MCHB Core Outcomes through the National Survey
of Children with Special Healthcare Needs. As such, the Core Outcomes reflect a
general synopsis of how well the system of care is operating broadly for children
with special healthcare needs. State Title V agencies are also responsible for a broad
array of services and infrastructure designed to support healthcare access for chil-
dren with special healthcare needs. In addition, many Title V agencies have worked
closely with provider and community partners to ensure access to comprehensive
services, funded through the Title V Block Grants. Ventilator-dependent children
can take advantage of such supportive services, which vary by state, and pulmon-
ologists can work with Title V agencies to be aware of the available services.
Overall, families continue to report widespread deficiencies in having their needs
met. The 2009–2010 National Survey of Children with Special Healthcare Needs is
the latest in a series of national telephone surveys that examine how well states are
meeting the Core Outcomes. The results of the survey found that only 17.6 % of
CYSHCN are served by healthcare systems that met all age-relevant Core Outcomes.
Data specifically on ventilator-dependent children are not found in the National
Survey, but children with medical complexity have worse findings on the National
Survey [29].
The findings of the National Survey simply reflect the ongoing stress that families
endure and the inability of the healthcare system to meet their needs that continues
despite over 25 years of state- and national-level programs, funding, and initiatives
designed to integrate systems. More recently, the Affordable Care Act has encour-
aged states and systems, particularly through the Center for Medicare & Medicaid
Innovation, to design novel healthcare delivery systems as well as the payment

structure that supports the integrated care that ventilator-dependent children require.
Examples of payment reform may include accountable care organizations, integrated
healthcare systems, paying for care coordination through a continued fee-for-service
structure, and integrating support services through Health Homes. State Title V
agencies and the MCHB have some oversight of developing comprehensive systems
of services for ventilator-dependent children.
As changes in healthcare payment reform continue to develop, it will be up to the
individual healthcare providers to implement changes in their own practices that
take advantage of payment incentives and system changes. For example, increased
payments for care coordination would enable a provider office to hire additional
care coordinators who would be responsible for ensuring that families are con-
nected to the services that they require—specialty care, medications, and therapies—
ideally in a proactive manner. It is important to realize that many of these reforms
may be directed towards the primary care setting or separate community-based or
state agencies under Health Home activities, which, in essence, defaults to the pul-
monologist in a supportive role when it comes to managing the ventilator-dependent
child. Put another way, the coming years may very well see additional financial
support for healthcare providers to coordinate care and promote family-centered
care under the medical home concept. It remains to be seen how much, if any, of
these reforms will be directed to subspecialty teams. This clearly presents a chal-
lenge when the pulmonologist plays such a critical role in maintaining what may
essentially be life support for a child who is living at home.
There are always roles for the pulmonologist that are critical to the health of the
ventilator-dependent child and will not change: initiation of the ventilation support,
ventilator management, oversight of equipment, and management of the lung
disease. It is important to understand, however, that meeting the needs of the
family of a ventilator-dependent child is generally greater than what any one
individual can provide, whether it be the pulmonologist, the family, or the pri-
mary care provider. No one individual has the complete expertise to meet all of the
medical and supportive service needs of the ventilator-dependent child. In addition,
the designated Medical Home provider should act as the main contact for the fam-
ily, facilitating and coordinating access to all necessary services, including those
services that the provider is not an expert in. At the minimum, implementing
effective care through the medical home concept for the ventilator-dependent child
presents a daunting challenge for the family, pulmonologist, PCP, and all related
services. Provider and family roles need to be defined to ensure comprehensive
needs are met and overlap minimized; staff need to be appropriately supported
(often with a dedicated point person who acts as a care coordinator) and trained;
families need to be supported as partners; and systems need to be operated
efficiently.
In the following section, we present examples of potential models of care, along
with the operationalization and the steps necessary to implement such care that meet
the needs of the child and family and support effective healthcare delivery. It is
important to recognize that while successful programs, by many measures, do exist,
the research on what components are necessary and the financial models to bring
them up to scale for a larger population remains subpar. This situation, however, does
present the opportunity for the pulmonologist, the family, and supporting partners to
innovate and be creative about how care is delivered effectively for the ventilator-
dependent child. Readers of this chapter are encouraged to be knowledgeable about
the state and local medical home initiatives and partner with other providers to
improve care delivery for ventilator-dependent children who live at home.
Operationalizing Care Models for Ventilator-Dependent

Children: The Current State
Ethan is a 3-year-old child with metatrophic dystrophy and a cervical spine injury
requiring continuous ventilation. You get a call from the primary care physician,
who has just assumed care of Ethan because his mother was not happy with the
previous primary care physician. This physician notes that Ethan has lost weight
since his last visit and sometimes appears short of breath. Ethan lives 200 miles
away from you and his parents have transportation difficulties. His physician would
like to speak with your nutritionist and he wants to know where to fax the results of
his blood work today, and find out when you would like to see him next. The primary
care physician does not know what to recommend about evaluating the shortness of
breath or altering the vent settings but offers to work with you on co-managing the
ventilator.
The successful care model of the ventilator-dependent child should be able to
translate best care practices into effective care delivery and better health. Such care
should have technical and medical expertise, embrace the Medical Home concept,
and address the care partnership needs of the family. However, local contexts vary;
family-centered care, too, can be messy because care plans should be negotiated and
tailored to specific situations. This means that ultimately, the treating physician may
be willing to agree to a care plan that may not be his or her first choice of options,
but is acceptable to all to move forward.
It is crucial to understand that the pulmonologist plays a very specific and impor-
tant role in the care of the ventilator-dependent child. Many aspects of the medical
care can ONLY be done by the pulmonologist, such as the assessment of ventilation,
ventilator management, acute respiratory illness assessment, and management of
airway disease. By default, the pulmonary orders are written by the pulmonologist,
and when the child is sick, the pulmonologist may be called first. The pulmono-
logist, as the expert in a field of subspecialty medical knowledge that applies to a
small number of children, may be responsible for medical decisions for where there
may be little precedent because of the ongoing advances in technology.
The intensity of the pulmonary team involvement can also lead, often by default, to
the pulmonary team managing nutrition, social services, and case management, par-
ticularly with speech, swallowing, and behavior management. This may occur because
either the primary care physician may not have the expertise or familiarity, or these
services were initiated in the hospital while the child was under the care of the
pulmonologist. In any event, the family may come to see the pulmonologist as the
primary contact and, in fact, the de facto “Medical Home” provider as the contact for
all care. Some pulmonary services have accordingly developed multidisciplinary pro-
grams dedicated to the care of the child with ventilator dependency, including dedi-
cated staff roles and time. Reimbursement frequently does not adequately cover the
operating expenses of such programs. Nonetheless, such programs offer an identity for
a central location for pulmonary services dedicated to ventilator-dependent children.
The risk of centering so much care within the pulmonary team can lead to the
ventilator-dependent child not establishing a close relationship with the primary
care physician in the community. The absence of a close relationship with the
primary care physician can lead to missed immunizations, missed preventive care
visits, and missed opportunities to assess behavior, nutrition, and many other care
aspects that are best performed in the primary care setting. A further complication
may occur given the regionalization of subspecialty care. The pulmonary team may
be far from the child’s place of residence, sometimes hundreds of miles away.
In that situation the pulmonologist is not readily accessible for a clinic visit when
the child is acutely ill. In the absence of a close relationship with the primary care
team, the local physician may not be comfortable assessing an acute pulmonary
problem in a ventilator-dependent child. Alternatively, the local physician may feel
comfortable assessing but may not have the training to render the optimal manage-
ment decision. Thus, in the absence of a local physician willing to evaluate the child
during acute respiratory illnesses and partner with the pulmonary team, the family
must rely on limited, telephone-only evaluation by the pulmonary team or travel
long distances to the tertiary care center every time the child is acutely ill. Neither
scenario will substitute for a qualified physician providing hands-on assessment and
up-to-date timely management. The lack of having a qualified physician with access
to optimal decision-making is not ideal for the ventilator-dependent child.
One alternative is to co-locate services in individual care settings. Some pulmo-
nologists may be more comfortable providing primary care-type preventive services
such as immunizations and anticipatory guidance in behavior and development, just
as some primary care physicians may be comfortable even managing ventilator sup-
port or weaning oxygen; there is the occasional primary care physician that has
subspecialty training, for example. However, reimbursement models do not support
the time needed for primary care delivery in the pulmonary setting. In addition, the
stakes are too high with the ventilator-dependent child to routinely have pulmonary
care outside of the subspecialty clinical setting for the following reasons:
• The tracheostomy /ventilator is complex technology
• The tracheostomy /ventilator is intimidating to families and providers alike
• Improper management of tracheostomy /ventilator may be life-threatening
• Most providers who are not pulmonologists have no experience with home
ventilator support
• The pulmonary team is multidisciplinary, including the physician, respiratory ther-
apist, social worker, specialty nurse, and other managing subspecialists; with so
many moving parts, there is a larger margin for error with miscommunication
In summary, the ideal model of care for the ventilator-dependent child should
thus:
• Acknowledge the unique and critical role of the pulmonary team
• Acknowledge the unique and critical role of the primary care team
• Clearly delineate the responsibilities of each member of the care team
• Support a partnering approach for the families, who will also bring the integrated
view of all other needed care and support services
• Support timely and ongoing communication between all parties
• Acknowledge that the roles that all parties have will change over time as the
child grows and develops.
Encouraging the best care from all services usually entails supporting families
and providers to provide the best care in their own settings. The realities of reim-
bursement make building multidisciplinary care programs difficult. The challenge
for pulmonologists is to work with families and primary care physicians to have the
best care possible in their own settings while coordinating care so that the family
sees efficient and effective care throughout. Remember that the family sees the
entire care system and all moving parts—including parts that the pulmonary team or
primary care team may not be familiar with!
Co-Management between Primary and Specialty Care:

Building the Family-Centered Gold Standard
Co-management reflects a care model in which multiple providers, usually the pri-
mary care provider and specialty provider, work together in a planned, coordinated
manner to deliver seamless care [30]. Co-management, however, does not happen
by accident. Co-management is planned between providers and families, delineates
roles, and utilizes a number of tools such as comprehensive written care plans.
When well implemented, co-management can address the gaps that occur if care is
centered completely on the primary care OR the pulmonary settings.
Antonelli [31] outlined three models of care for children for CYSHCN that
reflect the interplay between primary care physician (PCP) and specialty care that is
usually found [31]. Each model has its benefits and drawbacks that should be con-
sidered in assessing the care plan for the ventilator-dependent child, as illustrated
below.
PCP as the Primary Manager. This care model emphasizes that the primary care
physician is the first point of contact and the main decision maker for the medical
issues of the child. In the case of the ventilator-dependent child, this is not a model
that will typically be used, because it is extremely rare for the primary care physi-
cian to be comfortable with management. Some primary care settings may have an
external care coordinator that provides additional care coordination support for
families, but it would be extremely unusual for such external care coordination sup-
port to have sufficient expertise in managing home ventilation.
Specialist as Primary Manager. The specialist is the primary manager of the

child’s medical needs. In the case of the ventilator-dependent child, this may happen
by default to the pulmonary service because of the frequency and intensity of the
care management, at least initially. This model, however, acknowledges that the
specialist must be able to coordinate all aspects of the child’s medical care and non-
medical service needs. For example, assessments for school, education, other organ
systems, and psychosocial needs should be regularly assessed, as well as immuniza-
tions, behaviors, and even toileting. It also asks for 24/7 access as in the Medical
Home concept for all of these situations.
PCP and Specialist as Co-Managers. Recent studies favor co-management, as
when it is executed successfully, it enhances access for families since the primary
care physician can be an effective first contact. That does not mean the primary care
physician is the medical decision maker when it comes to pulmonary issues. Rather,
the primary care physician acts as the eyes and ears of the pulmonologist, for exam-
ple, during evaluation of an acute pulmonary illness. This setup works best if the
pulmonologist is familiar with the comfort level and experience of the primary care
physician. Co-management works well IF the following are achieved: [30]
• Good relationship with the primary care physician
• Clear delineation of roles
• Clear protocols of care
• Data sharing
Families, if co-management works well, prefer this arrangement because it is
able to merge the best of both worlds. PCPs can also become increasingly comfort-
able with certain aspects of care with co-management [32].
Factors that will drive decisions about which model of care to implement include
the family’s preference, resources in the community, distance to the tertiary care
center, and the PCP’s level of training and comfort. All of this needs to be individu-
ally assessed. With any co-management agreement, a phone call with mutual care
planning should be considered at the minimum. The challenge of co-management is
being able to develop the necessary relationships with the primary care providers, as
these typically develop over time and entail building confidence among all provid-
ers in their care.
One additional emerging model is the comprehensive complex care service at the
tertiary care center [33]. Such services offer multidisciplinary, team-based care and
care coordination to children who are deemed as “complex” because of multi-organ
disease and frequent hospitalization. In contrast to a ventilator-dependent program,
such complex care services often admit children based on medical care need and not
by diagnosis. In certain situations, the whole-child orientation of the complex care
clinic may be a helpful adjunct to the care of the ventilator-dependent child.
Emerging evidence suggests that such clinical services may be helpful in making
care more efficient, effective, and family-centered [19], and thus the number of such
services are gaining popularity. Complex care services have the same challenges as
any other multidisciplinary service: inadequate reimbursement, staff training, and
need to coordinate with the primary care service, although some do provide primary
care services. Payment models to support this care model vary considerably,
although efforts on the federal level are being considered that could potentially stan-
dardize this care delivery model in the future. The pulmonary team may consider
the complex care service as an additional resource for patients and families.
Implementation of Collaborative, Co-Management Care

between Primary and Subspecialty Care
When implementing co-management, it is important to recognize that the pulmon-

ologist is likely going to initiate a substantial portion of the medical care plan. The
pulmonologist will have initiated the ventilator support in-house, and will design
the transition plan from hospital to home. The pulmonologist will also be viewed as
the expert on the critical portions of the life-sustaining ventilator support. Even the
most capable and involved primary care physician and family will defer to the lead-
ership of the pulmonary team with these key aspects of care.
The experience and desire of primary care physicians to care for the ventilator-
dependent child will vary considerably. Some primary care physicians are experi-
enced in caring for critically ill children and will readily be able to co-manage by
providing preventive care, anticipatory guidance, immunizations, and acting as the
local “eyes and ears” for the pulmonologist. These practices may also be staffed
with dedicated care coordinators. Other practices may be less capable with staffing
and experience. The pulmonologist will need to be able to assess not only the
family’s ability to assume home care, but also the capability and comfort of the
primary care physician, and initiate co-management accordingly.
This section of the chapter is thus geared towards the pulmonologist, but in some
cases, the primary care physician may initiate the conversation towards better co-
management of medical issues. What follows is a general guide for implementing
co-management, including the tools that the pulmonologist, primary care physician,
and family may wish to utilize.
1. Pulmonologist reaches out to PCP upon discharge. At a minimum, the pulmon-
ologist should identify a primary care physician and ensure that there is a pri-
mary care physician or a team at the PCP office that self-identifies as “taking
charge” of the medical care plan in the PCP setting. The pulmonologist should
be able to speak with the PCP by phone to discuss the hospital course, care plan,
and expectations for co-management.
2. Pulmonologist and PCP should clarify roles. At the initial phone call, the pulmon-
ologist and PCP should identify their respective roles so that there is no confusion
or duplication. The pulmonologist will clearly maintain oversight and management
of the ventilator. The primary care physician should follow the routine well-child
visit schedule as outlined by Bright Futures [34]. Roles to clarify include: who will
adjust the medications? The nutrition plan? Swallowing evaluation and therapy?
Developmental assessment and referral? Who should be the primary contact in

case of specific illnesses? The PCP may also be expected to learn aspects of care of
the ventilator-dependent child over time. Finally, the role of the family and the
roles of office staff should be clarified as well. The PCP and the pulmonologist may
both have dedicated staff members, such as a nurse or a social worker that acts as
the primary contact for care coordination and information sharing.
3. Develop written care plan and red flags for PCP. The PCP should have a docu-
mented written care plan, including the summary of the initial hospital stay. Also
documented should be specific contact information for the pulmonologist and all
related hospital care team members, including nutrition, social work, respiratory
therapy, and others. The list of red flags should include baseline vital signs and
ventilator settings, with specific reasons for both family and PCP to contact pul-
monologist immediately. Emergency contact information and plans, including
emergency room, should be clarified.
4. Pulmonologist and PCP agree on routine visit schedule. The pulmonologist and
the PCP should agree on a routine follow-up schedule that is tailored to the needs
of the patient and family. This schedule may be tailored for distance, family abil-
ity to transport equipment, and comfort of the PCP. For example, a pulmonolo-
gist and PCP may opt to see the child every 2 weeks, alternating between the
two, with a phone contact between the two physicians after the visit.
5. Pulmonologist, family, and PCP should clarify how information will be shared,
the frequency of sharing and by whom. Co-management is optimized if there is
immediate communication of clinical assessments, changes in care plans, medi-
cation changes, or setting of new goals. The optimal method, which is not always
available, would be a shared electronic medical record or patient portal.
Alternatives may include phone calls, secure email, fax-back forms, and letters
that are dictated and mailed in a timely fashion.
6. Pulmonologist, family, and PCP should clarify care plan goals. A written care
plan that is formulated by the “medical home provider”—which may be the PCP
or the pulmonologist—is an essential tool that helps set care plan goals. The
family should participate in developing care plan as it offers the opportunity for
all parties to clarify short- and long-term goals of the care of the child.
A number of tools are available to support the implementation of co-management
and the medical home. Examples of written care plans and care summaries can be
easily found on medical home resource web pages such as the National Center for
Medical Home Implementation: www.medicahomeinfo.org. Examples of tools that
practices may wish to avail themselves of include:
• Medical home assessment tools
• Family partnership tools
• Cultural competency assessments and tools
• Billing and coding help for care coordination
• Staffing plans
• Family support groups
Finally, this section highlights the specific relationship between the pulmonologist
and PCP. It is important to recognize that many ventilator-dependent children
receive care from multiple other specialists, such as ENT for dysphagia and/or
tracheostomy care, cardiology for pulmonary hypertension, and nephrology for
hypertension. It is unlikely that anyone other than the pulmonologist or PCP will
be considered the “Medical Home” provider for ventilator-dependent children.
However, the logistics of coordinating multiple plans become more complicated
and time-consuming. It is imperative that one provider acts as the primary “Medical
Home” provider [35] and that is agreed upon between the pulmonologist and PCP.
The “Medical Home” provider ideally has the dedicated time and resources, such as
a designated care coordinator, to coordinate a care plan that accounts for multiple
specialists. This means that the “Medical Home” provider works with the family to
continually update the care plan, accounting for the input of multiple specialists,
and reaches out to the specialists individually through email or phone if necessary.
Tools, secure messaging and communication methods, and dedicated staff become
even more important in this regard. Another option available to some pulmonolo-
gists and PCPs may be to utilize a tertiary care center-based comprehensive care
clinic for the child with medical complexity.
Summary
Effective care for ventilator-dependent children entails being able to implement rec-
ommended care in the community setting. Research supports a comprehensive care
approach, embracing the role of the primary care provider and providing family-
centered care within the medical home concept. Multiple providers and care com-
ponents need to be successfully coordinated. The pulmonologist, however, is crucial
to keeping the child healthy, due to the direct management of life-sustaining treat-
ment. Multidisciplinary programs are frequently valuable in coordinating multiple
services that work with the child and family, and care can be coordinated in a co-
management protocol by the PCP, family, and pulmonologist. Reimbursement
remains a challenge, particularly for sustaining the multidisciplinary programs that
may need to be supported by the individual service or the hospital, but healthcare
reform may encourage new opportunities for reimbursing supportive services and
effective health delivery.
Optimal care models should incorporate the strengths of all providers that are
needed to provide comprehensive, medical home-based care for the ventilator-
dependent child. A variety of tools exist to help the pulmonologist, primary care
physician, and family jointly plan care that provides timely, effective medical care
and the needs of the child and family. If successful, the Medical Homecare concept
is likely to result in the effective care delivery sought by all: improved quality of
life, better health, and family need that are met. However, the critical role of the
pulmonologist will mean that the pulmonary team needs to take a lead role in setting
the tone for co-management, including patient and family assessments, working
relationships with primary care providers, care protocols, and care access.
Much future research continues to be needed. Specific research questions include:
what are the important care components associated with improved healthcare out-
comes? What services and care arrangements should be supported by innovative
payment mechanisms? What is the return of investment on multidisciplinary care
services? What are the metrics that accurately assess family-needs and outcomes?
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children and youth with special health care needs. Arch Pediatr Adolesc Med. 2007;
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18. Cohen E, Kuo DZ, Agrawal R, et al. Children with medical complexity: an emerging popula-
tion for clinical and research initiatives. Pediatrics. 2011;127(3):529–38.
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20. Leiter V. Dilemmas in sharing care: maternal provision of professionally driven therapy for
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current applications and future directions in pediatric health care. Matern Child Health
J. 2012;16(2):297–305.
24. Kuhlthau K, Bloom S, Van Cleave J, et al. Evidence for family-centered care for children with
special health care needs: a systematic review. Acad Pediatr 2011;11(2):136–43.
25. Dunst CJ, Dempsy I. Family-professional partnerships and parenting competence, confidence,
and enjoyment. Int J Disabi Dev Educ. 2007;54(3):305–18.
26. Bodenheimer T, Wagner EH, Grumbach K. Improving primary care for patients with chronic
illness: the chronic care model, Part 2. JAMA. 2002;288(15):1909–14.
27. Liptak GS, Revell GM. Community physician’s role in case management of children with
chronic illnesses. Pediatrics. 1989;84(3):465–71.
28. McPherson M, Weissman G, Strickland BB, van Dyck PC, Blumberg SJ, Newacheck
PW. Implementing community-based systems of services for children and youths with special
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special healthcare needs. Pediatr Ann. 2009;38(9):498–504.
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providers for children and youth with special health care needs. Washington, DC: Georgetown
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medical complexity. Overland Park, KS: Children’s Hospital Association; 2013.
Chapter 8
Outpatient Care of the Ventilator Dependent
Child
Nanci Yuan and Laura M. Sterni
Introduction
Invasive mechanical ventilation via tracheostomy and noninvasive ventilator support

have become increasingly utilized treatment options for pediatric patients with a
wide variety of diagnoses. This is due to multiple factors including advancements in
available technology, improved access to technology and medical care, increased
clinical expertise, and a paradigm shift in patients, caregivers, and physicians’ atti-
tudes towards quality of life and long-term care. Children who depend on chronic
ventilator support are a medically complex and diverse group with high morbidity
and mortality. The increased risk for severe illness and death in this group of patients
is related both to progression of underlying conditions and to complications related
to comorbid conditions or the presence of a tracheostomy (e.g., tracheal plugging or
bleeding) [1–3]. Despite the complex healthcare needs of children who rely on
chronic ventilator support, there are few guidelines and little published evidence
available to guide the clinicians who care for these patients in the outpatient setting.
The goals of home care for patients with chronic respiratory disorders were out-
lined in an American Thoracic Society (ATS) statement approved in 2005 [4]. In
this statement, home care was defined as including home healthcare, hospice,
chronic homecare services such as nursing and home medical equipment. The gen-
eral goals of home care for patients with respiratory disorders included increasing
survival, decreasing morbidity, improving function and quality of life, supporting
N. Yuan, M.D. (*)

Stanford Children’s Health Sleep Center,
770 Welch Road, Suite 350, Palo Alto, CA 94304, USA
e-mail: nyuan@stanford.edu
L.M. Sterni, M.D.
Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins University School
of Medicine, 200 North Wolfe Street, Baltimore, MD 21287, USA
e-mail: lsterni1@jhmi.edu

146 N. Yuan and L.M. Sterni
self-management and independence, encouraging positive health behaviors, and

promoting optimal growth and development in pediatric patients [4]. Minimizing
recurrent hospitalizations is another very important goal in complex patients with
technology dependencies [5]. To meet these goals, outpatient providers must help
patients and their families navigate a complex array of providers and services.
Professionals caring for children requiring chronic ventilator support require spe-
cialized clinical knowledge and an understanding of how to access the services and
equipment that will be required for care in the home. Often care of these complex
patients is accomplished through multidisciplinary care teams. The objective of this
chapter is to review aspects of outpatient management that should be considered in
all patients requiring ventilator support. While the indications for and methods used
to provide respiratory support vary widely, there are many common themes in the
outpatient care of these children.
The Importance of the Care Team
Multiple studies in the last several years show an increase in the prevalence of home
mechanical ventilation worldwide. These retrospective studies and reviews from coun-
tries as diverse as Canada, Korea, Poland, and the United States demonstrate similar
findings, as follows: (1) there have been significant increases in the number of patients
treated with noninvasive mechanical ventilation; (2) there are an increasing variety of
underlying diagnoses accepted as indications for chronic ventilator support; (3) there
are an increasing number of pediatric patients utilizing chronic ventilator support lead-
ing to issues during the period of transition from pediatric to adult care; and (4) these
patients are resource intense and have a significant impact on both hospital and com-
munity services [6–10]. Patients requiring home ventilator support have significant
medical and technology requirements and care often involves a large number of medi-
cal professionals. The complexity of their care places them at risk of unmet medical
needs and poor coordination of needed services [5, 11].
There is also evidence showing that providing care to a patient requiring chronic
ventilator support in the home places a significant burden on the family. Several
studies show the complex emotional impact of home care of a patient with either
noninvasive or invasive mechanical ventilation on the caregiver and the individual
members of the family [12–17]. These studies share common themes. The caregiv-
er’s obligations negatively impact their mental, physical, and sleep health as well as
their family relationships. These issues worsen as the primary caregiver ages.
Caregivers report a lack of support from the medical system and the community as
well as from other members of the family, who may feel resentment towards the
patient. There is a large gap between caregiver expectations and what the community
healthcare services are able to provide, even when almost unlimited resources are
available. Caregivers and extended family members usually see a negative impact
on their ability to participate in school, employment, and in social activities due to
the considerable time demands of caring for the patient. Families often have little or
8 Outpatient Care of the Ventilator Dependent Child 147
no access to suitably trained professional caregivers who can provide the technical
care required by the patient, leaving family caregivers and the entire family without
a respite from the continuous stresses associated with their home medical care
responsibilities.
A number of support measures are needed to facilitate appropriate care of
patients requiring chronic ventilator support and to reduce the burden on their fam-
ily members. A healthcare team skilled in all aspects of care for these patients is
important if the goals of home care are to be reached. Given the complexity of care
required, the care teams for these patients often span multiple disciplines and, based
on patient and family requirements, may include nurses, respiratory therapists,
nutritionists, physical therapists, speech therapists, social workers, and
psychologists.
The use of family-centered care and the Medical Home comprehensive care
model are reviewed in Chap. 7. A dedicated pediatric palliative care team can play
an important role for many of these patients (Chap. 5). While care team composition
may vary from patient to patient and clinic to clinic, a team leader or case manager,
responsible for ensuring multidisciplinary follow-up and working to address the
changing needs of the patient and family, is recommended for children requiring
chronic ventilator support [18].
Respiratory Care in the Outpatient Clinic
Respiratory care may be provided in a variety of outpatient settings but all children
requiring chronic ventilation should have an involved respiratory specialist, usually
a pediatric pulmonologist, but in some centers this may be a neonatologist or
pediatric-intensive care physician. The goals of an outpatient visit to the clinic man-
aging the child’s respiratory care should be to evaluate the patient’s stability and/or
progress, manage the patient’s respiratory illnesses, assess the adequacy of the pre-
scribed ventilator support, and review the use and tolerance of the ventilator and
other respiratory support equipment. Children who rely on chronic ventilator support
utilize a wide variety of ventilators and interfaces. Troubleshooting the home equip-
ment required for the patient’s care has been addressed in Chap. 10. Clinic visits often
provide the forum for patients and their caregivers to report equipment concerns or
ask questions about the use of equipment they have been provided. When possible,
asking caregivers to demonstrate the use of the equipment is valuable, providing an
opportunity for medical professionals to reinforce the caregiver’s skills. Requesting
that patients bring their home ventilators to clinic when feasible allows clinic staff to
check equipment settings and compliance monitors. During a quality control survey
of 290 patients receiving home mechanical ventilation (primarily noninvasive venti-
lation) in Spain, significant differences were found between the ventilator settings
prescribed and both the actual settings on the ventilator panel and the support (pres-
sures or volume) provided by the ventilator [19]. Clinics caring for these complex
children should be staffed not only by physicians but by respiratory therapists or
alternative specially trained staff who can evaluate the home equipment and provide
ongoing support and teaching to the home caregivers.
When using noninvasive positive airway pressure (PAP) ventilation in growing
children, both continuous positive airway pressure (CPAP) and noninvasive positive
pressure ventilation (NIPPV), the appropriateness of the interface should be reevalu-
ated frequently. As children grow, mask sizes change. Review of the patient’s mask
is essential in the clinic as common complications of PAP therapy, such as skin and
eye irritation, are often related to poor mask fit or placement. Nasal and facial masks
frequently lead to skin irritation or ulceration [20, 21]. Skin complications in these
patients can be significant leading to the need for wound care and resistance to using
the mask. Overtightening of the mask to prevent leak often leads to pressure-related
skin problems. Caregivers should be encouraged to clean the mask daily as accumu-
lation of oils from the skin on the mask contributes to skin irritation. A change in the
mask to avoid contact with injured areas of skin should be considered when possible.
Nasal symptoms, including congestion, dryness, or rhinorrhea, are common compli-
cations of PAP therapy and can be managed with heated humidity and, if needed,
intranasal steroids or other medical therapies [20, 22].
There have been published reports of children using nasal noninvasive ventilator
support for long periods developing mid-face hypoplasia, likely secondary to the
prolonged application of force exerted by the mask and headgear on growing facial
features [21, 23, 24]. Fauroux et al. evaluated 40 children using nasal masks for
noninvasive pressure support and found 68 % had facial flattening when assessed by
physical examination [21]. Children using PAP therapy for long periods of time
should have regular assessment of their facial development during their physical
examination. In our clinics, when the development of facial deformities is noted,
patients are provided with an alternate interface to change where pressure is applied
on the face. We also stress the importance of avoiding mask and headgear overtight-
ening, and review the appropriate mask fit and placement at each visit. In the
Fauroux study, spontaneous regression of a facial deformity that had developed in a
3.5-year-old patient who had been using NIPPV since infancy was seen after the
support was discontinued.
Patients prescribed noninvasive PAP support must be monitored closely to assess
and encourage adherence with therapy. Best studied in children with obstructive
sleep apnea syndrome (OSAS), adherence with PAP is known to be poor and is a
limitation to effective treatment for many patients [25, 26]. Multiple factors influ-
ence adherence, including patient and family characteristics, disease characteristics,
equipment features, and side effects [27]. A recent study in children and adolescents
with OSAS treated with PAP found that PAP adherence was primarily related to
demographic and family factors. The strongest predictor of poor PAP use in this
study was low maternal education [28]. Time in outpatient clinic can be spent dis-
cussing PAP use and when available reviewing compliance data obtained from the
patient’s equipment. Programs to encourage adherence with PAP therapy have
focused on behavioral therapy, intensive family education, and counseling and
equipment modification with treatment of complications [27, 29–31]. Many clinics
caring for children requiring noninvasive ventilator support are staffed with
behavioral psychologists or respiratory therapists who work with families and

patients. The addition of a specially trained respiratory therapist to provide educa-
tion and evaluate the patient’s PAP equipment during visits to a multidisciplinary
sleep clinic improved adherence in pediatric patients with OSAS and poor adher-
ence at baseline [32]. Adherence in children requiring NIPPV for treatment of
hypoventilation related to neuromuscular or lung disease has not been extensively
studied. A recent study examining CPAP and noninvasive ventilator use in patients
with a variety of diagnoses who had been using the therapy at least 1 month did not
find a difference in adherence when comparing OSAS patients to those with lung or
neuromuscular disease [33]. In this study, however, very good compliance was
noted in all groups and the number of non-OSAS patients was small. PAP compli-
ance and strategies to improve adherence are addressed in Chap. 12.
Children receiving ventilation via tracheostomy should have regular evaluations
of their airway to assess tracheostomy tube fit and to help detect and avoid any air-
way complications that may result from the indwelling tube, such as tracheal granu-
lomas. Examination of the airway and tracheostomy tube size and curvature is often
best accomplished with flexible bronchoscopy. An ATS consensus statement
addressing care of the child with a tracheotomy recommended rigid or flexible bron-
choscopy every 6–12 months although noted that there is little data to support the
use of surveillance bronchoscopies in this setting [34]. Choosing the appropriate
tracheostomy tube size for a patient involves evaluating the patient’s airway size and
shape and demonstrating that the tube provides an adequate airway for ventilation
[35]. When possible, after considering the patient’s medical stability, airway patency
and cognitive status, a tracheostomy tube size that would allow for speech (not to
exceed 2/3 of the tracheal lumen) can be chosen [34]. The ATS consensus statement
referenced above recommends that all patients with a tracheostomy be referred to a
speech pathologist for services, regardless of diagnosis, age, or expected length of
time tracheostomy will be in place. Cuffed tracheostomy tubes are associated with
complications caused by the localized pressure the inflatable cuff places on the air-
way wall. Cuff pressures higher than the capillary perfusion pressure of the tracheal
mucosa can result in ulceration and ischemic necrosis of the airway which may lead
to tracheal stenosis or tracheal dilatation [34, 36]. The indications for the use of
cuffed tubes in pediatrics are limited, and careful monitoring and family education
is needed if a cuffed tube is required [34].
An important component of the outpatient respiratory clinic visit is the evalua-
tion of the patient’s pulmonary status. A consensus statement on the respiratory care
of patients with Duchenne muscular dystrophy recommended that clinics caring for
these young men have the ability to perform and interpret specific tests that are
important for monitoring the patient’s respiratory status [37]. These recommendations
seem generalizable to any clinic caring for children on chronic invasive and nonin-
vasive ventilation, many of whom have neuromuscular disease. “Necessary” tests
that should be available in clinic include pulse oximetry, capnography, peak cough
flow, maximum inspiratory and expiratory pressure measurement and arterial blood
gas analysis. Tests that the panel of experts felt should be available by referral
outside of the clinic include polysomnography, overnight pulse oximetry or overnight

pulse oximetry combined with capnography measured in the patient’s home.
There are no published protocols outlining the routine pulmonary assessment of
patients requiring chronic ventilator support and monitoring will be dependent on
the patient’s underlying diagnosis, comorbidities, and medical status. Consensus
statements have outlined respiratory monitoring protocols for patients with
Duchenne muscular dystrophy and spinal muscular atrophy [37, 38].
Polysomnography and home measurements of gas exchange are important in the
ongoing care of pediatric patients requiring ventilator support as respiratory require-
ments may change with growth, with disease progression or as their underlying
condition improves. A consensus statement from Australia recommended sleep
studies, ideally full polysomnography, at regular intervals for all children on respi-
ratory support [18]. Widger et al. found that titration studies performed to adjust
both CPAP and bi-level ventilation in children using these therapies chronically
frequently led to recommendations to optimize therapy [39]. Further, scores on a
quality of life questionnaire were more likely to improve if the changes recom-
mended had been implemented by the time of the patient’s next sleep study (recom-
mended yearly in their center). Useful guidelines for PAP titration in patients with
OSAS and adjustment of noninvasive positive pressure ventilation in adults and
children with stable hypoventilation syndromes have been published by the
American Academy of Sleep Medicine [40, 41]. It should be noted that the avail-
ability of polysomnography to monitor gas exchange during sleep in ventilator-
dependent patients is limited in some centers, while other centers prefer home
measurement of oxyhemoglobin saturations and carbon dioxide levels to eliminate
the risk of underestimating abnormalities in the laboratory setting due to poor sleep.
The optimal method for monitoring and titrating ventilator support in children is an
area requiring further investigation.
Regular assessment of a patient’s respiratory status leads to informed discussions
regarding the current plan of care, transition to the next stage of care and avoidance of
“crisis” situations. The timing of clinical evaluations is dependent on many factors.
Based on the consensus of the authors, a minimum of every 3 months for children on
invasive ventilation and 3–6 months for patients on noninvasive ventilator support have
been proposed in one guideline from Australia [18]. As noted above, the optimal
schedule for routine respiratory clinic evaluation with the goal of improving outcomes
for patients requiring chronic ventilator support has not been studied.
Liberating a patient from mechanical ventilator support, both invasive and non-
invasive, is a realistic goal for many children, depending on the original indication
for long-term ventilation. Often this is accomplished through a gradual decrease in
ventilator settings, during which the patient is followed closely to be sure they are
tolerating the reduction in provided support. This process, often called “weaning,”
may occur over weeks, months, or even years. There is little published evidence
detailing how and when weaning should be attempted and the approach must take
into account the underlying cause of the patient’s respiratory failure. Weaning from
mechanical ventilation may occur stepwise at home, in subacute facilities or in
acute-care hospitals. Some patients are liberated from ventilators in favor of
diaphragmatic pacing. Validated protocols for safely weaning appropriate patients

from ventilator support have not been published. Further, it is not known if weaning
algorithms will lead to improved patient outcomes. A consensus report from a
workgroup of experts in the United States details a protocol for weaning patients
from mechanical ventilation in a post-acute hospital setting; the authors note that
further study to validate this approach is needed [42].
Smoking and Secondhand Smoke
Tobacco use harms children, and is even more dangerous for children with respira-
tory disorders. Tobacco use and secondhand smoke exposure increases the frequency
of respiratory illnesses and infections and decreases lung function [43]. Smoking in
the home is the leading cause of residential fire deaths in the United States and fatal
home fires have been reported secondary to smoking in the presence of home oxygen
therapy [44, 45]. The risk of fire related to oxygen use must be stressed with families
and patients. Those caring for children with respiratory issues should work with
families and patients to attain smoking-free environments, both in the home and out
of the home, and help active tobacco users develop a plan and find resources for
tobacco use cessation [46]. Information to help patients and families eliminate
tobacco use can be found at Smokefree.gov [47].
Infection
In a study by Kun et al., pneumonia and tracheitis were found to be the most com-
mon reasons for hospital readmission during the year following the initiation of
chronic ventilator support via tracheostomy [48]. Poor care of the tracheostomy and
respiratory equipment may be responsible for some of these infections. Children
dependent on invasive ventilator support and many children using noninvasive sup-
port may have complex chronic conditions which predispose them to serious infec-
tions even in the setting of excellent care. Prior to discharge home, caregivers must
be trained in appropriate infection prevention practices. Routine handwashing and
the use of alcohol-based hand cleansers should be encouraged. Use of the appropri-
ate infection control techniques for procedures, such as tracheostomy suctioning,
and appropriate care and cleaning of respiratory equipment should be stressed.
Review of the importance of infection control practices in clinic may be useful.
Demonstration and support of these practices by clinical staff while caring for the
patients during outpatient visits is of utmost importance.
Children requiring ventilator support in the home may have difficulty with respira-
tory infections secondary to their underlying disorders. Patients that have undergone
tracheostomy tube placement and require invasive mechanical ventilation have an
increased risk for respiratory infections. Bypassing the nasopharynx and the protec-
tion provided by the nose, mouth, and upper airway contributes to recurrent tracheal
infections. The tracheostomy tube also provides a direct entryway for infectious
agents into the lower airway. Lastly, the presence of the tracheostomy tube in the air-
way and the need for suctioning of the tube to clear the airway may lead to tracheal
ulceration, denudation, and inflammation predisposing to the development of infec-
tion. These factors lead to both serious acute respiratory infections and result in colo-
nization of the trachea with multiple and potentially pathogenic bacteria. Colonization
of the airway has been reported in 100 % of children with long-term tracheostomy
with Staphylococcus aureus and Pseudomonas aeruginosa being among the most
common organisms identified [49, 50].
Differentiating acute bacterial tracheobronchitis or pneumonia from coloniza-
tion of the respiratory tract or a viral upper or lower airway infection can be diffi-
cult. A careful history and physical are important with acute infection often leading
to deterioration in the patient’s respiratory status which may manifest as an increased
need for ventilator support, supplemental oxygen, or suctioning of the tracheos-
tomy. Fever, leukocytosis or leukopenia, and an elevated CRP are consistent with an
acute respiratory infection. Upper airway secretions can be tested for common viral
pathogens. In patients with an appropriate clinical picture, tracheal aspirates dem-
onstrating elevated leukocytes and high colony counts of pathogenic bacteria leads
to a diagnosis of tracheobronchitis. If the patient has a new or progressive infiltrate
on chest radiograph a diagnosis of pneumonia can be made.
A recent study examined the usefulness of surveillance tracheal aspirate cultures in
children with tracheostomies for determining treatment during acute lower respiratory
infections [51]. The study demonstrated significant changes in bacteria and antibiotic
sensitivities when comparing cultures obtained during an acute exacerbation to the
most recent previous culture (which may have been obtained when the child was
healthy for surveillance or during a prior hospitalization). The authors found there was
limited value in using previous tracheal aspirate cultures to guide antibiotic therapy
for acute respiratory infections in children with tracheostomy tubes.
Ventilator-associated pneumonia (VAP) is a serious complication in intensive
care units leading to significant morbidity and mortality. Chenoweth et al. per-
formed a retrospective cohort study on adult and pediatric patients receiving
mechanical ventilation at home to characterize VAP in this setting [52]. They found
that the incidence of VAP is significantly lower in the home setting and that VAP
was most common during the first 500 days of ventilation. The authors postulate
that patients may be more acutely ill when initially discharged home or that the
reduction in VAP over time may be due to improved care at home as providers learn
needed skills. Patients that required ventilator support for longer periods per day
had a higher risk of VAP, perhaps reflecting increased severity of underlying illness
or increased opportunity for bacterial contamination. VAP did not lead to death in
this small cohort but did result in hospitalization in 87 % of patients affected. Studies
designed to identify interventions that may reduce tracheobronchitis and VAP in the
home are needed.
Once a diagnosis of bacterial tracheobronchitis or pneumonia is made the antibiotics
chosen should initially cover the organisms suspected based on the child’s clinical pic-
ture and history and then be modified based on the most recent cultures and sensitivities.
Antibiotics are generally given enterally or intravenously in serious infections. Little

data exists to support the use of aerosolized antibiotics in the treatment or prevention of
airway infections in this home-based patient population [53, 54].
Children requiring chronic ventilator support should be carefully monitored to be
sure that immunizations are up to date. The American Academy of Pediatrics cur-
rently recommends annual seasonal influenza vaccination for all children and adoles-
cents over the age of 6 months with an emphasis on immunization of children at
increased risk of complications from influenza including those with lung disease and
chronic medical conditions [55]. Yearly influenza vaccination should also be provided
to all household contacts and out-of-home caregivers of at-risk children. Antiviral
medications, such as oseltamivir, can be considered for chemoprophylaxis in chroni-
cally ill patients with contraindications to vaccination or for treatment of influenza.
Respiratory syncytial virus (RSV) can lead to severe lower respiratory tract ill-
ness in many patients that require ventilator support. Infants with severe broncho-
pulmonary dysplasia, complex congenital heart disease, or immunodeficiency are at
particular risk. Monthly intramuscular administration of Palivizumab, a humanized
mouse monoclonal antibody, during the RSV season is recommended in infants and
children under the age of 24 months with CLD requiring medical therapy and con-
genital heart disease to reduce the risk of severe lower respiratory tract infection
[56]. Families caring for infants at high risk for severe respiratory viral infections,
including RSV, should be counseled to reduce exposure to these viruses through
handwashing and limiting time in high-risk settings (e.g., daycare), particularly dur-
ing the respiratory viral season.
Many patients requiring chronic ventilator support will also be candidates for
appropriate pneumococcal vaccinations. The type of pneumococcal vaccine that
should be given depends on the age and prior immunization history of the child
[57]. Recommendations for and types of vaccinations required may change with
research and development, up to date information can be obtained from both the
Centers for Disease Control (CDC) (http://cdc.gov) and the American Academy of
Pediatrics (https://www.aap.org).
Cardiology
Chronic respiratory failure that is inadequately treated can result in pulmonary

hypertension which may progress to right heart failure. Hypoxia and chronic inflam-
mation appear to be the main factors that lead to vasoconstriction, vascular remodel-
ing, and subsequent pulmonary hypertension in patients with chronic lung disease.
Hypoxic pulmonary vasoconstriction, muscularization of previously nonmuscular
arteries, and capillary endothelial and smooth muscle proliferation lead to increased
tone in the small pulmonary arteries [58]. In patients with obstructive sleep apnea,
repetitive falls in oxygen saturation, wide swings in intrathoracic pressures and
increased sympathetic tone may lead to the development of pulmonary hyperten-
sion [58]. Close monitoring is needed by the pulmonologist to guarantee that
ventilator settings, whether the patient is using invasive or noninvasive ventilation,

are adequate to address the patient’s respiratory issues and avoid cardiac complica-
tions. Cardiology evaluation should be considered in patients with signs or symp-
toms that may be consistent with pulmonary hypertension or right heart failure (e.g.,
reduced exercise tolerance, tachycardia, cardiac enlargement on chest radiograph)
or for those at risk of significant hypoxemia (e.g., poor adherence with ventilator
usage, very severe respiratory disease).
Orthopedic Problems/Scoliosis
Many patients who require chronic ventilator support have neuromuscular disorders
(NMD) which place them at risk of developing musculoskeletal complications. The
most frequently encountered problems are scoliosis, joint contractures, bony rota-
tional deformities, and hip dysplasia [59–61]. Because of the added negative impact
on respiratory function, surveillance for scoliosis is recommended for all patients
and in particular, patients with NMD. In many cases the first indications for orthope-
dic evaluation and treatment are musculoskeletal complaints due to pelvic obliquity,
dislocation of the hip, limited balance or ability to sit, and/or back pain [59–61].
Treatment options for scoliosis include bracing and surgery. The goals of surgi-
cal correction of scoliosis include correcting the deformity to obtain a balanced
spine and level pelvis and stabilize the spine to prevent progression and delay sec-
ondary respiratory complications [61]. In the immediate postoperative period, tho-
racic surgery, including scoliosis surgery, results in decreased lung volumes,
expiratory flow rates, and oxygenation as a result of the site of surgery itself, anes-
thesia, pain, and decreased mobility [62]. In one study examining children undergo-
ing surgery to correct scoliosis, pulmonary function testing declined by 60 % after
surgery, remained significantly decreased at 1 week and did not return to near base-
line until 1–2 months after surgery [62]. A thorough preoperative pulmonary evalu-
ation can obviate postoperative morbidity. Preoperative pulmonary function
measurements and nutritional status have been validated in multiple studies as reli-
able predictors of postoperative respiratory morbidity in all patients but especially
in those with NMD disorders [63, 64]. Polysomnography is the gold standard for
documentation of sleep-disordered breathing (nocturnal hypoventilation, hypox-
emia, and obstructive sleep apnea). While polysomnography has not yet been shown
to be a reliable preoperative marker for postoperative complications, the detection
of sleep-disordered breathing demonstrates existing pulmonary compromise and
the necessity of initiating therapy such as noninvasive positive airway pressure ven-
tilation pre- and/or postoperatively [65, 66].
A variety of surgical approaches have been used to correct scoliosis in patients
with NMD, the type and timing of which require careful thought due to the increased
risk of anesthetic and surgical complications (postoperative wound infections,
bleeding, respiratory compromise) [59–61, 63, 67–73]. Preoperative assessment of
surgical and anesthesia risk includes an understanding of the primary disease and its
prognosis, the preoperative risk factors (i.e., poor baseline pulmonary function mea-
surements, non-ambulatory status, preoperative curve magnitude, the presence of a
ventriculoperitoneal shunt), and the goal for surgical correction (preservation of
lung function versus performance and function in activities of daily living). The
long-term effects of scoliosis surgery on lung function are debated. One study from
Velasco et al. showed a significant decrease in the rate of decline in forced vital
capacity (FVC) in Duchenne muscular dystrophy patients following surgical cor-
rection of scoliosis when compared to pre-surgery rates [74]. In contrast, an obser-
vational study from Alexander et al. did not show any reduction in the rate of FVC
decline in Duchenne patients who had posterior spinal fusion compared to patients
who had not undergone surgical correction [75]. Correction of scoliosis surgically
can improve quality of life via improvement in pelvic obliquity and sitting balance
[68, 73].
Bone health is an important consideration in the care of many of the patients
requiring long-term ventilator support. Poor mobility, poor nutrition, and glucocor-
ticoid therapy are factors which may place a patient on chronic ventilator support at
risk of secondary osteoporosis resulting in bone pain or fractures [76]. Vitamin D
deficiency has been shown to be common in adult patients with neuromuscular dis-
ease and chronic respiratory failure, likely due to inadequate intake of vitamin D
and insufficient sun exposure [77]. Maintaining adequate Vitamin D and serum cal-
cium levels is one component of bone care. Patients with clinical predictors of
osteoporosis, including low-impact fractures or backache, or incidental osteopenia
in radiographs should be referred to endocrinology for evaluation [76].
Nutrition in Patients Requiring Chronic Ventilator Support
Patients with chronic respiratory failure are at risk for a variety of nutritional
complications. Malnutrition is commonly seen in children requiring long-term
ventilator support. Along with poor somatic growth, patients who are undernour-
ished may also have decreased respiratory muscle strength and be more prone to
infection, increasing their dependence on mechanical ventilation. There are a
number of factors that can lead to malnutrition in this group of patients. In patients
with lung disease, upper airway obstruction or neuromuscular disease increased
respiratory muscle work results in increased energy demands which enhance the
risk of malnutrition [78]. Systemic inflammation is another important factor con-
tributing to hypermetabolism and loss of body cell mass through catabolic activity
[78, 79]. Many children requiring ventilator support are at risk of swallowing
dysfunction which may lead to poor nutrition. Swallowing dysfunction is a com-
mon difficulty in many of the conditions that lead to chronic respiratory failure,
for example neuromuscular disorders. Children requiring chronic invasive venti-
lator support may have swallowing dysfunction related to the tracheostomy. In
patients with a tracheostomy swallowing dysfunction may be related to multiple
factors including the anchoring of the trachea to the skin and neck muscles
limiting the motion of the larynx, disruption of normal airway pressures which
play a role in movement of a bolus through the pharynx and a decrease in the glot-
tic closure response [80, 81]. The ATS consensus statement addressing the care of
children with tracheostomy recommended swallowing evaluations after tracheos-
tomy in all patients [34]. Gastrointestinal issues such as gastroesophageal
reflux, diarrhea (e.g., related to medications such as antibiotics or infection with
Clostridium difficile) or constipation (e.g., due to immobility, low fiber diets,
dehydration) may also contribute to poor feeding and nutritional compromise.
The goal of treatment for nutritional failure in children on home chronic ventilation
should be to provide adequate nutrition safely. Children with dysfunctional swallow
may benefit from changes in food consistency such as thickened liquids or pureed diets.
Videofluoroscopic swallow studies or clinical evaluation by an expert in feeding and
swallowing can help objectively assess possible interventions. Some children with nor-
mal swallowing function may be unable to take in the calories they require secondary
to fatigue related to chronic illness. When appropriate nutrition cannot be safely deliv-
ered by oral feeding, gastrostomy tube placement should be considered. Management
of feeding plans by an expert in nutritional assessment and interventions is an impor-
tant component of the outpatient care of patients in chronic respiratory failure.
Obesity is another common problem among patients with chronic respiratory dis-
ease and a requirement for ventilator support. Decreased mobility and treatment with
glucocorticoids are some of the risk factors for excessive weight gain. Excessive
weight gain can have negative effects on respiratory function and increase the risk of
upper airway obstruction [82–84]. Nutritional counseling with the goal of maintaining
ideal weight and body mass index should be part of the ongoing care of these patients.
CPAP or bi-level-positive airway pressure therapy is often provided to OSAS
patients who are obese and either were not candidates for adenotonsillectomy or did
not have resolution of their OSAS with adenotonsillectomy (Chap. 13). In these
patients weight loss should be encouraged and can improve OSAS, possibly reduc-
ing their reliance on PAP therapy [85–87]. The amount of weight loss required to
result in improvement in OSAS has not been determined but attaining and maintain-
ing a healthy weight, both to improve OSAS and avoid the other many consequences
of obesity, is a goal for all children.
Dentistry
There is growing medical literature supporting the need for instituting good oral
health practices as a disease prevention strategy for both healthy adults and chil-
dren. Good oral health includes care of the gums, teeth, and oral mucosa. Disease
and decay may impair the ability to properly chew and swallow resulting in malnu-
trition and dehydration; impair the ability to socialize and communicate due to poor
speech and smile; and cause pain resulting in poor sleep and behavior. Poor oral
health can also lead to localized and then disseminated infection as well as increase
the risk for chronic inflammatory-based systemic diseases [88, 89]. In the critical
care setting, guidelines are being established for oral care protocols to reduce the
incidence of ventilator-associated pneumonia (VAP) in critically ill patients with an
endotracheal tube [90, 91]. However there is a paucity of peer-reviewed published
medical literature showing the effectiveness of oral care in preventing VAP in
patients mechanically ventilated with a tracheostomy. A recent article demonstrated
the simple oral care in the form of tooth brushing with toothpaste and applying
chlorhexidine gluconate 0.12 % oral rinse solution may be effective in reducing the
VAP rate in patients with tracheostomies who were being mechanically ventilated
in a step-down unit [92].
As modern healthcare has increased the lifespan of patients with special health-
care needs, oral health has grown as an unmet healthcare need. Patients with special
healthcare needs have a multifold risk for developing oral disease and decay. They
are also more likely to have oral infections, periodontal disease, enamel irregulari-
ties, broken teeth, and moderate-to-severe malocclusion [93, 94]. Underlying medi-
cal conditions may place ventilator-dependent children at increased risk for
developing oral disease. Other important factors which lead to poor oral health in
this group of patients include the need to rely on a caregiver to provide routine oral
care, impaired ability to effectively clear oral contents due to issues with chewing
and/or swallowing, impaired salivary production, the type of diet with liquid nutri-
tion having a higher sugar content, overindulgence of caretakers, gastroesophageal
reflux disease, and facial deformities [95].
Patients with chronic, complex healthcare needs often have difficulty access-
ing appropriate dental care. Factors such as lack of or inadequate dental insur-
ance, household income, parent-reported dental health, transportation issues,
difficulty finding an appropriate and willing dental provider, and parents’ per-
ception regarding the need for oral healthcare can lead to poor oral health in
complex children [96, 97].
Social Work and Community Resources
Guidelines providing criteria for home discharge of patients requiring chronic ven-
tilator support list adequate financial resources to access care outside of the hospital
and provide needed equipment as a criteria for discharge home [18, 98, 99]. For
many families, changes in insurance coverage due to changes in employment, eco-
nomic status or once the patient reaches adulthood brings challenges. Families often
need help in the community, working with local school systems to develop appro-
priate educational plans for school-aged children, accessing transportation services
for wheelchair or bed-bound patients or locating respite care services. A clinic
social worker or team members skilled in addressing funding/insurance issues and
in accessing community resources can be an invaluable member of the care team.
Transition to Adult Care
When children dependent on home mechanical ventilation reach adolescence, a

successful transition of care from pediatric to adult healthcare providers must be
provided. Providing services to transition children with complex medical needs to
adult healthcare has been mandated by the Department of Health and Human
Services, Maternal and Child Health Bureau as a core measure required to create a
comprehensive system of services for youth with special healthcare needs and sup-
ported by the National Committee on Quality Assurance, the American Academy of
Pediatrics, the American Academy of Family Physicians and the American College
of Physicians [100–102]. This process can be difficult and patients are at risk of
emotional and financial stress, interrupted healthcare and negative health outcomes
during the transition period. Adult providers may be unfamiliar with chronic condi-
tions that may have been limited to pediatrics in the past complicating the transition
process. Poor healthcare funding for young adults (or a sudden change in insurance
coverage) can limit access to physicians and needed services and equipment. A
recent survey found that among academic pediatric pulmonary programs caring for
respiratory technology-dependent patients, few had standardized transition pro-
grams for their patients [103]. Core elements for successful transition may include
(1) a written transition policy for the clinic (2) a registry for identification and track-
ing of patients, (3) tools to facilitate transition planning, such as a transition readi-
ness assessment and portable medical summary and (4) organized and timely
transfer to adult providers [104]. Resources for clinics developing transition pro-
grams can be found at www.gottransition.org [105].
Children requiring chronic ventilator support in the home are a diverse and com-
plex group of patients with many healthcare needs. Given the multiple medical issues
that may be faced by these patients, families are often asked to navigate a medical
system characterized by poor access to physicians or other needed medical profes-
sionals, significant variations in practice and fragmented care. For many patients,
limited family and community resources also affect care. Outpatient clinic physi-
cians and staff can play an important role in providing and coordinating the patient’s
care needs with the goal of improving outcomes. Funding, research, and clinical
guidelines to assist practitioners caring for these patients are urgently needed.
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Chapter 9
In-Home Care of the Child on Chronic
Mechanical Ventilation
Deborah S. Boroughs and Joan Dougherty
Introduction
In the United States, approximately one million persons per year receive mechani-
cal ventilation during their stays in intensive care units. The number of patients
requiring prolonged mechanical ventilation beyond the hospital stay is rapidly
increasing [1]. There is no US national registry of ventilator-dependent patients at
home; therefore, the exact number of home ventilator patients is unknown. A con-
servative estimate of approximately 21,000 persons receiving mechanical ventila-
tion at home can be extrapolated from the existing US 2010 data. Of this total
number, it was estimated that approximately 4800 were children under the age of 18
who were supported with invasive mechanical ventilation [2]. Drawing conclusions
from the number of ventilator-dependent children reported in Pennsylvania in 2012
and US population data, it is estimated that there are as many as 8000 children, ages
birth through 21 years who are dependent upon some type of mechanical ventilation
at home [3].
Mechanical ventilation is a high-stakes, high-risk intervention, especially for
pediatric patients in the home setting. Secondary to acute illnesses or the natural
progression of disease, some of these patients will require rehospitalization. Some
D.S. Boroughs, R.N., M.S.N. (*)

Bayada Home Health Care, Pediatric Specialty Practice, 360 Route 44,
Logan Township, NJ 08085, USA
e-mail: debbyboroughs@gmail.com
J. Dougherty, B.S.N., C.P.N., C.S.N.
Pennsylvania Ventilator Assisted Children’s Home Program (VACHP),
Wanamaker Building, 9th Floor, One Hundred Penn Square East, Philadelphia,
PA 19107, USA
e-mail: doughertyj@email.chop.edu

166 D.S. Boroughs and J. Dougherty
readmissions, however, are avoidable and are directly related to the quality of care
received in the home, including inappropriate caregiver interventions and responses.
The consequences of recurrent illnesses and readmissions are significant and include
morbidity, mortality, family stress, and financial implications for the family and the
healthcare system. Providing quality homecare through caregiver training may
reduce avoidable readmissions [4].
Despite technological advances in home monitoring of ventilated patients, the
preventable death rate among children at home has not changed significantly dur-
ing the last two decades. Analyses of the data indicate that the three primary
causes of preventable death in ventilator-dependent children at home are inade-
quate caregiver preparation and training, improper emergency response by care-
givers, and a lack of vigilance [3]. In order for families to be successful and to
experience a sense of reward and fulfillment in caring for their ventilator-depen-
dent child at home, many factors must be considered. Even when caregivers are
willing and able to care for their child, they are often faced with a heroic task that
can prove to be overwhelming if proper preparation and ongoing supports are
inadequate. Since 1979, the Pennsylvania Ventilator-Assisted Children’s Home
Program (VACHP) has provided services to more than 1000 ventilator-dependent
children. These children, ranging in age from birth to 22 years old, can be
grouped into three diagnostic categories: chronic lung disease (CLD), congenital
anomaly or syndrome (CA), and neuromuscular/nervous system disorders (NM/
NS). Approximately 83 % of these ventilator-dependent patients receive invasive
mechanical ventilation and 17 % receive noninvasive mechanical ventilation. All
of the VACHP patients qualify for home nursing services. The death rate of the
VACHP children while enrolled in the programme is 18–20 % and the prevent-
able death rate has remained nearly the same at 27 % of all deaths [3]. This acci-
dental death rate is similar to findings of a large study reviewing outcomes of
children and young adults on invasive ventilation support over 22 years, which
reported a cumulative 5- and 10-year survival rate of 80 %. In this study approxi-
mately one-third of the deaths of children on mechanical ventilation were due to
progression of the underlying disorder [5].
Preparation for Mechanical Ventilation of a Child at Home
Many children’s hospitals have developed criteria for discharge of a ventilator-

dependent child to home. Discharge criteria may vary for children being discharged
on invasive mechanical ventilation versus noninvasive mechanical ventilation, but
for all children being discharged on mechanical ventilation, there are factors to con-
sider in preparing for discharge including:
Medical stability—The patient’s airway, whether natural or artificial (tracheostomy),
must be stable. The patient should demonstrate respiratory stability, there should be no
acute decompensation events for several weeks prior to discharge. The supplemental
oxygen requirement should not exceed 40 % since it is difficult to maintain a home
oxygen supply when children require >50 % [6]. Ideally, the patient would successfully
9 In-Home Care of the Child on Chronic Mechanical Ventilation 167
use the home ventilator in the hospital for at least 2 weeks prior to discharge, but this
varies according to availability of the home ventilator and insurance coverage.
Psychosocial considerations—The family caregivers must consistently visit in the
hospital and agree to learn all of the child’s medical care. The caregivers must be able
to meet the basic needs of food, clothing, housing, safety, and stimulation at home.
Family caregiver training—At least two identified family caregivers must com-
plete tracheostomy and ventilator management training in the hospital and achieve
competency in all required skills, treatments, technologies, and cardiopulmonary
resuscitation (CPR). Caregivers do not have to be the child’s biological parents, and
in homes with single caregivers, a relative, friend, or neighbor may be the identified
backup caregiver. A successful independent 24-h stay with the child must be accom-
plished by the family caregivers. Although the length of training programmes vary,
caregivers can expect the training to take 6–8 weeks [6].
Environmental safety—The home must have space for the child’s equipment and
caregivers. The home must be safe from fire, pest, and health hazards, have a working
telephone, and have adequate electrical and heating systems. Homes should be geo-
graphically located within reasonable distance of emergency services, and backup
generators should be considered for homes where power outages occur frequently [6].
Financial considerations—The family must have appropriate resources to
provide all basic needs of the child. The child must have health insurance cover-
age and insurance authorizations for needed home equipment, and services must
be obtained prior to discharge. Families should be prepared for increases in
their electric and water bills once the child is at home, and the reality that they
may lose income from missed work hours when the child is ill or no homecare
nurse is available.
Home nursing care—Ideally, the family is able to select an accredited nurs-
ing agency that provides experienced, trained, and skilled nurses who will pro-
vide safe care according to the physician’s plan of care, but unfortunately family
choice may be limited or dictated by the insurer. The agency selected must be
prepared to fill the number of authorized nursing shifts to the best of its ability.
At a minimum, the agency nurse manager should meet the child and family
prior to discharge. The family should have the opportunity to meet the homecare
nurses assigned to the case prior to discharge from the hospital so that they may
be able to ask questions about the nurses’ experience and qualifications to care
for their child.
Respiratory needs—A reliable respiratory company that specializes in ventila-
tor equipment and that is available 24 h a day, 365 days a year must be selected.
The clinicians employed by the company must be experienced, skilled, and pre-
pared to provide ongoing training to caregivers in the home. A home visit by the
respiratory therapist or other appropriately trained staff prior to discharge from the
hospital must include an environmental assessment and complete set up of all
equipment and supplies. The company must make a commitment to supply, moni-
tor, and replace equipment as it is needed and on a routine schedule. If the respira-
tory company cannot provide all the child’s non-respiratory equipment needs, a
durable medical equipment company (DME) must also be identified.
Proper Preparation of Caregivers
In order to ensure the best outcomes for a child who is supported by mechanical
ventilation at home, proper preparation of all caregivers is essential.
Preparation of Family Caregivers
For caregivers of children receiving invasive mechanical ventilation, Storgion sug-

gests that the formalized tracheostomy and ventilator management training pro-
vided by hospital staff to family caregivers include:
• Routine and emergency tracheostomy care with return demonstration on the
patient
• Routine and emergency ventilator management using the home ventilator with
the patient
• Responding to hypothetical emergency scenarios
• Demonstration of equipment management—pulse oximetry, assistive coughing
and suction devices, respiratory therapy equipment including oxygen and nebu-
lizer equipment
• Independent, overnight care of child while in hospital with a feedback and evalu-
ation session
• CPR certification and specialized emergency training using the tracheostomy as
the primary airway
• Instruction for safe transport of child and care outside of the home [7]
For caregivers of children receiving noninvasive mechanical ventilation, the
same training principles apply except in place of tracheostomy training, there must
be discussion and return demonstration of routine and emergency airway care,
including preventing and treating appliance-related complications of nasal mask,
oronasal mask, nasal pillows, or other facial appliances [8].
Preparation of Homecare Nurses
Ideally, preparation of the nurses who will care for the child in the home includes:
• A refresher course in anatomy/physiology of the pediatric respiratory system and
pediatric respiratory assessment
• A mechanical ventilation theory course
• Training in routine and emergency airway care with a stepwise response
• Training in routine and emergency ventilator care and response with a stepwise
response
• Instruction in hands-on operation of ventilators and airway clearance devices
• Simulation practice using emergency scenarios

• Knowledge of respiratory medications and proper sequence of administration
• A course in psychosocial aspects of homecare
• Precepting of the nurses by a qualified supervisor in the home prior to working
independently with the patient [9].
Preparation by Nursing Agencies
Physicians and hospital discharge staff should require accountability from the nurs-
ing agency for the nurses working in the home [10]. Unfortunately, due to restric-
tions imposed by insurers or lack of available nursing agencies, physicians and
discharge planning staff may work with agencies that are unfamiliar to them; there-
fore, it is important for the hospital staff discharging the patients and their families
to meet with the nursing agencies and discuss their expectations. In centers with
home ventilator programmes, staff should familiarize themselves with nursing
agency policies and records before recommending them to patients and families.
Although there are no national standards or certifications for nurses caring for tra-
cheostomy and ventilator patients, we recommend the nursing agency be account-
able for the following provisions to promote quality home nursing care:
• Comprehensive training for all agency nurses
• Validation of nurse skills with simulated return demonstration
• Provision for ongoing evidenced-based practice (EPB) training for nurses
• Arrangement for equipment in-servicing by DME companies
• Provision of formalized preceptor programme for each nurse with each patient
• Monitoring and documenting nurse performance and providing remedial train-
ing as needed
• Annual skill recertification and specialized CPR for nurses
• Meticulous record keeping of education, licensure, CPR certification, and DME
training for each staff nurse
• Nurse performance evaluations and satisfaction surveys from families
Monitoring Mechanically ventilated Children in the Home
Monitoring Devices
A well-trained, alert caregiver provides the best monitoring of a ventilator-dependent

child. Electronic monitoring devices alert caregivers when continuous and direct
visualization of the child is not possible. The goal of home monitoring is to provide
an early, reliable warning sign that the child’s airway is compromised. In their 1999
clinical consensus statement, the American Thoracic Society reported that although
there was wide variation in the use of monitoring devices for patients with chronic
tracheostomy, most physicians prescribed monitoring devices for at least some of
their patients. The role of home monitoring devices was included in their areas for
future research [11].
A Duke University study by Peterson-Carmichael & Cheifetz examined the
monitoring needs of ventilator-dependent children at home. Recommendations
included determining each individual child’s need for cardiorespiratory monitoring,
pulse oximetry (continuous or intermittent), and/or capnography (time-based or
volume-based); as no standard guidelines exist [12]. At Children’s Hospital of
Philadelphia, each patient requiring home ventilator support is provided a pulse
oximeter for continuous or intermittent use to identify hypoxemia, a sensitive and
early indicator of potential respiratory distress.
A home monitor must be reliable and routinely tested for accuracy. It is essential
that the monitor has a battery backup for portability and for use during power out-
ages. Monitors with download capabilities may be useful in certain homes to review
collected data to assess patient trends over time and to evaluate episodic periods of
clinical instability such as bradycardia, apnea, or desaturation. Monitors that have
the capability of remotely downloading data via telephone or Internet provide the
opportunity for medical providers to readily assess the data, especially for those
patients who live a substantial distance from their medical team.
The monitors chosen for use in a patient’s home should be maintained and ser-
viced by the respiratory or DME company routinely and replaced as needed.
In-home training for new monitoring technology for the family caregivers and
homecare nurses should be provided. When monitors with download capability are
employed, data can be downloaded by respiratory therapists or other DME staff at
specified intervals to ensure that the monitor is being used appropriately and as
ordered on the plan of care [12].
One of the key concerns regarding the most appropriate method for monitoring
the chronically ventilated pediatric patient at home involves alarms. Loose leads are
a frequent cause of false cardiorespiratory alarms. Patient movement can cause false
pulse oximeter alarms. These false alarms, as well as ventilator alarms, both real
and false, can quickly lead to sensory overload for family caregivers that may lead
to an inability to distinguish real alarms from false ones. Conversely, the alarms on
the various devices may not be adequately sensitive and fail to trigger an alarm dur-
ing the occurrence of a genuine problem. The lack of a triggered alarm can provide
caregivers with a false sense of the child’s well-being in the event of a real problem.
Given the possibility that a monitor may fail to alarm for a serious event, physicians
often choose to utilize at least two forms of monitoring such as ventilator alarms
plus pulse oximetry, for the care of their patients.
For children with small uncuffed tracheostomy tubes, high-tube resistance may
prevent the low-pressure alarm from detecting accidental decannulation [13]. For
these infants and children with small tracheostomy tubes, a decannulation test can
be performed to demonstrate the risk of a child being decannulated without detec-
tion. A spare tracheostomy tube is attached to the ventilator tubing while the venti-
lator is in operation with all prescribed parameters set. If the low-pressure alarm
fails to indicate decannulation, the infant is at risk for accidental harm or death. In a
2001 study done by Kun et al., it was reported that the tracheostomy tube size and
ventilator settings must be considered when prescribing the low-inspiratory pres-
sure alarms [13]. When the low-pressure alarms were set at 4 cm H2O below peak-
inspiratory pressure (PIP) for tracheostomy tubes <4.5 mm on low and medium
settings, and <4.0 mm on high settings, and when the low inspiratory pressure alarm
was set at 10 cm H2O below PIP for tracheostomy tubes <6.0 mm, they failed to
alarm for decannulation. Therefore, appropriate setting of ventilator low-pressure
alarms, use of low minute volume alarms that detect leaks in the system, and con-
sideration of additional forms of monitoring, such as pulse oximetry, should be
considered for children with smaller tracheostomy tubes.
As technology advances, the reliability and accuracy of alarms will improve.
Currently, the debate over how best to monitor chronically ventilated pediatric
patients at home, and to what degree, will continue.
The Human Factor
A vigilant, well-trained caregiver is the best prevention for pediatric tracheostomy

and ventilator emergencies in the home. This is equally true for both professional
home nurses and family caregivers [14].
Nurses
The nursing profession and the public are concerned with the capacity for nurses to
be consistent, vigilant caregivers. Families report that a primary frustration of
homecare is a lack of vigilance by the nurses who monitor their children, especially
when nurses sleep on the job. It is difficult for families to develop trust, confidence,
and rapport with a nurse who has been found asleep. In its extreme, a lack of vigi-
lance due to sleeping by a nurse can lead to the preventable death of a patient [15].
Nursing agencies are responsible for ensuring that work schedules for nurses allow
for proper rest between shifts. Agencies are accountable for taking corrective action
after families report a nurse sleeping on the job. For the nurse who commits a seri-
ous nursing error or is found asleep on the job we recommend reassessment of skill
levels, followed by remedial instruction and documentation of completed remedial
training by the nursing agency supervisor or clinical educator prior to the nurse
returning to the child’s home.
Family caregivers assume most of the responsibility of caring for their medically
complex child. Home nursing support, especially night nursing, is vital for the health
and well-being of family caregivers of ventilator-dependent children. Studies since the
late 1980s have regularly reported sleep disturbances in parental caregivers of technol-
ogy-dependent children [16–18]. A more recent study found a distinct relationship
between home nursing coverage, sleep, and daytime functioning in parents of ventila-
tor-assisted children. In the study, parents with clinically significant symptoms of
depression and sleepiness received significantly fewer hours of night nursing [19].
Families rely on nursing agencies to provide enough qualified nurses to fill the number
of approved nursing shifts for the child, especially during the night.
Family Caregivers
Ideally, preparation for discharge to home includes an independent 24-h provision

of care by the family caregivers that is monitored, evaluated, documented, and
determined to be safe by the hospital training team. Before discharge from the hos-
pital, family caregivers should be certified in CPR and demonstrate proficiency in
emergency care procedures including CPR with the tracheostomy as the primary
airway for those children with tracheostomies.
Once at home, family caregivers require ongoing training by nurses, respiratory
therapists, or physicians to maintain their skills in preparation for an emergency.
Future educational needs should be anticipated and planned for, especially for chil-
dren with progressive neurodegenerative disorders. Formalized continuing educa-
tion in the home for family caregivers, however, rarely exists. Portable electronic
simulation education may offer a promising solution for training family caregivers
in the community [20]. Some homecare nursing agencies are currently exploring the
potential for utilizing portable electronic simulation technology to provide continu-
ing education to family caregivers at home.
Alternate Caregivers
The use of non-professional caregivers in the home is a topic that requires further
investigation. An Australian study of 168 ventilator-dependent children at home
followed 69 children that were provided care by alternative caregivers in place of
skilled nurses [21]. Most of the children in the study received noninvasive ventila-
tion; only 30 % were mechanically ventilated via tracheostomy tube. The study
revealed that care given by trained “carers” was “safe and efficient” for children
using either invasive or noninvasive ventilation. Potential benefits of using non-
professional caregivers include: increasing the pool of available caregivers for fami-
lies, providing care at a lower cost, and allowing families to use relatives and friends
that they trust to provide the care [21]. Possible drawbacks to consider for using
non-professional caregivers include: the responsibility of parents to train the lay
caregivers; a lack of clinical oversight and accountability by professional agencies;
the risk of improper or inadequate response to highly complex medical issues asso-
ciated with invasive mechanical ventilation and tracheostomy emergencies; proper
understanding, operation and monitoring of sophisticated ventilator equipment; and
conflict of interest issues related to hiring relatives to provide care.
Preventing Accidental Deaths of Ventilator-Dependent

Children in the Home
Noninvasive mechanical ventilation has fewer complications compared to invasive

mechanical ventilation; however, it is essential that caregivers be able to address clear-
ance of airway secretions and understand how to properly apply and fit facial appliances
to prevent emergencies. For children who are invasively ventilated, the tracheostomy
tube adds significant risk. The four most common life-threatening emergencies for ven-
tilator-dependent children with tracheostomies are accidental decannulation, mucus
plugging of tracheostomy, difficult insertion of tracheostomy tube, and water entering
the tracheostomy tube. The key to preventing accidental deaths of ventilator-dependent
children in the home is comprehensive preparation of the nurses and family caregivers.
Family caregivers often rely on the knowledge, skill, and vigilance of homecare nurses.
In a recent study, pediatric home nurses caring for ventilator-dependent children scored
poorly when presented with online case-based, emergency ventilator alarm scenarios,
regardless of the years of nursing experience. The vast majority of nurses surveyed for
the study favored having more training opportunities [10]. The preventable death rate of
ventilator-dependent children at home will decrease only when nurses are committed to
maintaining high, evidence-based standards of care [3].
Proper Emergency Response by Caregivers
An efficient, stepwise response to each of the four primary emergencies should be

rehearsed routinely by all care providers in anticipation of a true emergency. Without
practice, complacency may develop during daily routine care. All caregivers need to
maintain alertness so that response to a genuine emergency will be automatic and
effective. In addition to specific well-defined steps taken during each possible emer-
gency, some precautions and practices can help avoid emergency situations:
• Ensure that the child is receiving adequate systemic hydration and airway humid-
ification at all times to prevent dehydration and thick secretions.
• Confirm that the child is wearing a humidification and moisture exchange device
(HME) when off the ventilator or using stationary humidification.
• Change tracheostomy tube as ordered by the physician.
• Keep all scheduled doctor’s appointments for routine airway evaluations.
• Ensure that caregivers report to the child’s physician any difficulty they experi-
ence during a suctioning procedure or routine tracheostomy tube change that
may indicate airway abnormalities such as new granulation tissue at the stoma or
granulomas in the trachea.
• Prevent water from entering the tracheostomy tube by securing ventilator tubing,
regularly emptying water from the tubing, and avoiding situations where the
child is at risk for excess water in the tracheostomy tube, particularly when bath-
ing. Swimming presents an unnecessary risk that should be avoided in children
with tracheostomy tubes.
• Have a working phone with preprogrammed emergency numbers nearby at all times.
• Always carry portable oxygen, suction machine, resuscitation bag, and a “Go-
Bag” of emergency supplies and extra tracheostomy tubes when outside the home.
• Ensure that all caregivers have current CPR certification and have demonstrated
emergency responses and CPR using the tracheostomy as the primary airway [22].
Psychosocial Aspects of Care in the Home
Families use multiple strategies to manage the stress of perpetual care giving. They
draw on informal and formal social supports that include friends, nurses, and physi-
cians. They utilize emotional expression, physical exercise, distraction, humor, and
prayer to cope [23].
Homecare nurses can play a vital role in creating a healthy psychosocial environ-
ment for the child receiving mechanical ventilation. Insight into the child’s percep-
tions of self and ability, prepares the nurse to foster resiliency and a sense of
self-worth in the child. The essential components of a relationship that allow psy-
chosocial support to the child and family by the nurse are:
• The nurse and family participate in consistent, frequent communication.
• Household and parenting rules are established at the first encounter between the
family and the nursing agency before the child leaves the hospital.
• Once home, give-and-take feedback between family and the nurse is ongoing.
• Supports for the nurses and families from the nursing agency that are consistent
and appropriate.
• Scheduled routine assessment of care delivered in the home by nurse agency
supervisors to reveal concerns that may be developing.
The effective homecare nurse recognizes the distinct differences between homec-
are and hospital care. A nurse who applies a “person approach” rather than a “patient
approach” is able to provide supportive, appropriate homecare. Maintaining a flex-
ible “way of doing” to accommodate family culture is important in home health-
care. The homecare nurse should recognize that the trained family members are the
health team leaders and respect their authority in the home.
Trust may not develop between the nurse and family unless the nurse possesses
clinical proficiency in each skill required by the patient prior to assuming care.
Families cannot be held accountable for nurse training at home. Family caregivers
should demonstrate to the homecare nurses how they were trained by hospital staff,
relating techniques, schedules, and equipment that were used for their preparation
to go home. Nurses should adapt their delivery of care to the family’s wishes as
much as is safely possible. A partnership between family and nurse needs to be
firmly established for cohesive care. Once a trusting relationship develops, parents
will be more responsive to nursing’s suggestions of new, more effective protocols
that may have developed since the child’s initial discharge from the hospital.
Table 9.1 Professional boundaries that may be crossed by nurses

• Undermining parental authority with the child
• Ingratiating themselves to the child or family by buying gifts, bringing food, or doing
non-nursing tasks in the home
• Becoming involved in family psychosocial dynamics unrelated to the child
• Disciplining or providing care to siblings
• Discussing the family with other nurses on the case
• Creating a personal mess in the home
Homecare nurses need to maintain professional boundaries. Family members

often perceive non-professional behavior and gestures by nurses as smokescreens to
mask poor clinical skills. Table 9.1 lists the common professional boundaries nurses
may cross in the home. Trust between the nurse and family that has developed over
time can be quickly destroyed when any of the professional boundaries are crossed.
Nurses need to consciously guard against unprofessional behavior in the home.
The primary psychosocial goal for the nurse is to maintain the child’s health and
well-being in the most professional, supportive way possible. Valuing diversity has mul-
tiple benefits for homecare nurses that affect families in positive ways. The world view
of the nurse cannot be imposed on the family. The nurse should have high regard for and
an appreciation of the differences in culture and in other “ways of doing” that are impor-
tant to the family. Appreciating diversity allows nurses to understand the family’s frame
of reference and adds valuable psychosocial skills to their nursing practice.
Nurses may provide valuable contributions that foster resiliency in a child who
faces significant challenges in life. Resiliency in children with complex health needs
is nurtured by helping them develop social competence, by assisting them in honing
problem-solving skills, by encouraging their autonomy as much as possible, and by
helping them to understand that they have worth and purpose in the world. Nurses
can accomplish this with constructive thinking, encouragement, creative activities
and by inspiring them, if possible, to reach out into the world rather than becoming
isolated. Pity does not enhance resiliency.
Children often report that one of their favorite qualities in a nurse is a good sense of
humor. All children, at all levels of development or cognition, want to laugh and have
fun. Humor brings relaxation, distraction, positive influence on the immune system, pain
reduction, temporary escape, positive self-image, and overall relief to the child [24].
Achieving Normalcy
A 2011 study that examined the challenges families of ventilator-dependent chil-

dren face in the home revealed both positive and negative experiences. Parents
described their overall experiences in caring for their ventilator-dependent children
as deep and enriching. All of the participating family caregivers expressed a strong
desire for their children to live as normal a life as possible; however, many problems
that created roadblocks to achieving a sense of normalcy for families and children
were identified. Family caregivers encountered difficulties with health and social
services, a lack of privacy, a sense of isolation, inconsistent and incompetent nurs-
ing care, and the emotional stress, anxiety and exhaustion that accompanies the
responsibility they had accepted. Despite these challenges, the value of life was so
important to these families that all stated they would choose home mechanical ven-
tilation again if faced with the same decision [25].
Normalization is the process of emphasizing the similarities between the experi-
ences of families with children who are technology-dependent and those with
healthy children [26]. Achieving normalcy requires providing supports to the family
that establish a routine and consistency from the start. During the first week or so at
home, 24-h in-home nursing is recommended to help the family adjust, gain confi-
dence, and establish routines. Nurses can use this time to evaluate the learning needs
of the family, review, and practice procedures with family caregivers, troubleshoot
equipment, and organize supplies and emergency equipment for efficient accessibil-
ity. During this time period, it is not unusual for home caregivers to identify a need
for additional supports, equipment, or home modifications. Having nurses in the
home will help in the identification of those needs and funding sources. This transi-
tional period is essential for families as they assume full responsibility for the
child’s care and become empowered to make decisions, advocate for the child, and
navigate the healthcare system. After the first week of 24-h per day of nursing,
skilled nursing care can be decreased in frequency as the child stabilizes and the
family becomes accustomed to the routine of care. Skilled nursing care should only
be decreased in frequency by the physician managing the child’s mechanical venti-
lation. Unfilled nursing shifts need to be taken into consideration when the physi-
cian decreases the hours after the first week or two [7]. Many children will have an
ongoing need for skilled care, and periodic reassessment of home nursing care
needs by the managing physician is necessary [11]. Insurance approval for home
nursing varies widely; patients are typically approved for 8–24 h of skilled nursing
care per day [27]. In Pennsylvania, children enrolled in the Ventilator-Assisted
Children’s Home Program receive 12–16 h of skilled nursing care per day based on
the child and family needs. The minimum number of nursing hours in the home
should cover nighttime care to allow family caregivers the opportunity to sleep with
the assurance that their child is being cared for and carefully monitored [3].
The child’s evaluation by the primary care doctor in the first few weeks at home
is important to ensure a normalized approach to childhood health at home. Open
communication between practitioners is essential; however, families need to know
who is managing which aspects of the child’s care and what the expectations are for
them in terms of their child’s follow-up needs. The use of Medical Home models for
ventilator-dependent children is discussed in Chap. 7. As the family develops a
routine in their home and their confidence level in their ability to manage their
child’s care at home increases, medical caregivers, families, and the third-party pay-
ers should collaborate to develop an appropriate plan of care [28].
After the first few weeks, the family’s focus will begin to transition from the child’s
medical condition to the child’s growth and developmental needs. Families should
participate in the educational and therapy evaluations of the child, and in many cases,
the development of an individualized education plan (IEP) or 504 Plan. Decisions will
include home versus center-based education and therapy and should be tailored to the
child’s needs and availability of resources in the home and community.
The value of respite care for the family cannot be underestimated. Respite ser-
vices allow families additional time to attend to family needs other than the care of
their ventilator-dependent child and to receive adequate rest to maintain physical,
psychosocial, and emotional health. VACHP annually polls all families of ventilator-
dependent children in the state to determine the benefits of the respite funds VACHP
provides. Over the past three years, the three primary benefits of respite care identi-
fied by families were fewer hospital readmissions related to non-emergent medical
care or caregiver fatigue; decreased rates of unemployment for one or both primary
caregivers; and family stability when caregivers are given the opportunity temporar-
ily to relinquish the responsibility of daily care that occupies most of the families’
time and energy [23].
Despite the proven benefits of respite care for families, it is often difficult for
families to obtain the required funding. When insurers deny respite funds, home
health agencies and community agencies can help families identify alternate respite
funding resources. Families typically prefer in-home respite services so the child
can be cared for in a familiar environment; however, at times facility respite care is
a necessary alternative [7].
Above all, if normalcy is to be achieved, professional homecare providers must
make a conscious effort to validate the families’ crucial role in care of the child and
accept that the heroic efforts of family caregivers are driven by an abiding wish that
their child experiences a meaningful life.
Traveling Outside of the Home
With a desire for normalcy, the ventilator-dependent child should have the opportu-
nity to explore the world outside of the home domain as much as possible. Many
children are able to attend school accompanied by a nurse. All of the children have
physician appointments outside of the home. With proper preparation, most of the
children are able to go outside. Leaving the home increases vulnerability and risk
for the patient. Safe transport in non-emergency and emergency circumstances must
be carefully planned and all the details conveyed to caregivers in the home [29].
Two caregivers should accompany the child, if possible, during transport. The care-
giver must carry a working cell phone with preprogrammed emergency numbers. At
a minimum, the equipment and supplies found in Table 9.2 should accompany the
child when outside of the home. The resuscitation bag is a vital piece of equipment
when traveling with a ventilator-dependent child. If the ventilator malfunctions or
an electrical power source is unavailable, the child will require manual ventilation
until help arrives. A spare, fully charged ventilator battery is helpful to bring along
when traveling. When traveling to a distant location, the home respiratory company
Table 9.2 Essential equipment to carry outside of the home

• Resuscitation bag
• Portable suction machine that is charged and tested for good working order
• Portable oxygen, tubing, and tank holder (for patients receiving supplemental oxygen)
• A “Go-Bag” that contains an extra tracheostomy tube and obturator, a size smaller
tracheostomy tube, suction catheters, scissors, tracheostomy tube ties, and lubricant
• Appropriately charged ventilator battery with backup if possible
should locate and contact a respiratory company at the intended location so that they
may provide essential respiratory requirements for the child in the new location.
The family will need a local source to call should there be equipment or supply
problems. The travel destination must be accessible and able to accommodate the
ventilator and other medical equipment. The physician in charge of the child’s care
plan should be aware of travel plans and approve the child for long distance travel.
It is useful for the family to carry a full medical summary of the child.
Legal Issues
Families may require legal assistance to ensure that their child is receiving the ben-
efits and resources to which they are entitled from third-party payers, school dis-
tricts, and social services. Once the child is discharged from the hospital and adapts
to life at home, some insurers seek to reduce services such as nursing or supplies.
Some school districts prefer that ventilator-assisted children receive instruction at
home; however, children should be given the opportunity to become part of the
community and develop relationships outside of the home whenever possible. Most
children who are supported by mechanical ventilation are able to attend school if
accompanied by a nurse. They have the right to receive appropriate education in the
least restrictive environment. Legal assistance may also be necessary to ensure safe
housing that can accommodate the use of a ventilator and adaptive equipment.
Before leaving the hospital, families are educated about the risks of caring for
their child at home, and despite those risks, most parents are eager to take their
children home. Preparation of family members by the hospital staff is aimed at
minimizing risks. The notion of risk becomes reality for parents when they find
themselves alone at home for the first time without the support system they had in
the hospital. In addition to trusting themselves and the level of skill they achieved
during the child’s hospital stay, they must be able to trust the agency that is supply-
ing the homecare nurses. Most family caregivers who are new to homecare assume
that risk is minimized when agencies send qualified nurses to care for their child.
They expect that the homecare nurses will be as clinically proficient as the hospital
nurses who cared for the child.
Among healthcare providers, physicians remain the main targets of medical malprac-
tice lawsuits. Nurses account for about 2 % of all medical malpractice payments, accord-
Table 9.3 Six essential skills for nursing agencies to validate for their nurses
1. A nursing skill exam to validate basic pediatric nursing skills
2. An Introduction to Pediatrics or a Precepted Education for Pediatrics course. During this
course, nurses should perform each skill on a mannequin; for example, proper suctioning
technique and return demonstration of a tracheostomy change
3. A Pediatric and Infant Care nursing exam—passing with an 80 % or better
4. Guided practice of pediatric nursing skills in the home office by the nurse supervisor and
competent skill validation by the clinical manager or nurse educator
5. Simulation lab practice using emergency scenarios to validate critical thinking skills
6. Oversight by a supervisor in patient home for at least three shifts, ensuring that critical
nursing skills for that pediatric patient, particularly tracheostomy changes, are correctly
performed on the patient by the nurse prior to working autonomously
ing to the National Practitioner Data Bank, operated by the US Department of Health
and Human Services. Medical malpractice payments on behalf of nurses nearly doubled
from 307 in 1997 to 586 in 2005. More and more nurses are being sued individually. The
majority of these lawsuits were against non-advanced practice registered nurses [30].
In homecare, the most substantial legal risks are for the nurses and nursing agen-
cies of mechanically ventilated children. Lawsuits resulting from harm, neglect, and
deaths of ventilator-dependent children against homecare nurses and agencies are
on the rise. The three primary types of lawsuits against homecare nurses are for
incompetency, improper response to tracheostomy emergencies, and neglecting to
properly assess and monitor patients.
In order for risks for the child and the nurse to be minimized, home agencies
should develop a path to competency for every nurse they assign to a pediatric
ventilator-dependent patient at home. Ideally, competency is confirmed and docu-
mented by the nursing agency after the nurse achieves all of the necessary skills to
care for the patient at home. Simonds summarizes, “A key part of any homecare
programme should be education of patients, families, and carers to help them use
the equipment confidently and safely and to have a sensible plan of action once a
problem arises [31].” Competency guidelines are being developed by many nursing
agencies, but there is currently no national standard. Table 9.3 lists comprehensive
training guidelines we recommend for homecare agencies.
Nurses should make it clear to the agency and family that they will not practice in
a way they feel is unsafe or beyond their scope of practice. This includes turning down
extra shifts if a nurse is fatigued or stressed. Nurses should thoroughly and accurately
document the care they provide in the home. No patient or equipment alarms should
be disabled without a thorough assessment of the situation. The patient should not be
left unattended or unmonitored at any time. Nurses should report significant concerns
about the patient and family to the agency supervisor and document those concerns.
Even the most cautious nurses sometimes may make mistakes. Occasionally,
even when nurses provide competent care, pediatric patients can suffer setbacks or
die, and their parents may sue. Nursing carries a risk, and homecare nursing of
ventilator-dependent children carries additional risk, but risks in homecare are man-
ageable. Nurses who achieve competency in all skills prior to delivering care assume
control of their practice, and, thus, reduce risk. Most homecare nurses are aware of
the risks, and yet they are committed to the care of their patients at home [32].
Outcomes
Mortality Rates
Outcomes for all children at home receiving mechanical ventilation need to be fol-
lowed and reported by providers in order to identify barriers to and interventions for
improving outcomes. Of the 1000 patients followed by VACHP over a 30-year
period, approximately 44 % are alive and remain mechanically ventilated. Thirty
three percent are alive and liberated from mechanical ventilation. Eighteen percent
are deceased and the outcomes of approximately 5 % of the children are unknown.
Of the deceased, approximately 27 % of all the deaths were accidental and prevent-
able [3].
Barriers to Improving Outcomes
The primary barrier to improving outcomes for children who receive mechanical
ventilation at home is the insufficient preparation of all caregivers, especially prepa-
ration for effective emergency response. Monitoring devices are sometimes not
used or are used improperly when alarms are silenced or when parameters are
improperly set. Skill levels that are self-reported by nurses and by agencies may be
overestimated and may lead to patient assignments for which nurses are not quali-
fied. Nurse agencies may not provide routine and emergency tracheostomy and ven-
tilator training to staff nurses. Ongoing assessment and continuous evidence-based
education by agency educators may be lacking. Formalized family education may
be non-existent for family caregivers once they leave the hospital.
Misperceptions about the role of a homecare nurse and fewer students choosing
nursing as a career path have contributed to an insufficient pool of skilled nurses in
an ever-growing homecare arena [33]. Nurses may regard the role of a pediatric
homecare nurse as a less-than-desirable nurse specialty compared to hospital-based
nursing positions. Recruitment of qualified nurses is a primary focus of most
homecare agencies who diligently and creatively seek to hire highly-skilled clini-
cians to meet the need. For example, some agencies have developed formalized
postgraduate nurse residency programmes to train newly graduated nurses for pedi-
atric homecare. In the past, most nursing agencies required 1 or 2 years of hospital
experience before nurses could apply for homecare positions. As the demand for
pediatric homecare nurses increases, agencies will need to keep pace with a supply
of qualified practitioners or funding for alternatives, such as training and use of non-
professional caregivers, must be considered.
Interventions for Improving Outcomes
It is possible to improve outcomes for ventilator-dependent children at home if all

caregivers are committed to the task. All homecare providers must be properly pre-
pared for routine and emergency care. Skills should be validated for all caregivers.
Consistent monitoring at home is essential. Homecare practices and protocols
taught to families in the hospital prior to going home should be updated with
evidence-based changes as they develop and when the child’s medical condition
changes. Physicians and families should demand nurse agency accountability for
the nurses they send into the home [10].
Summary
All professional and family caregivers desire safe and healthy outcomes for children
who are supported by mechanical ventilation at home. Family caregivers must be
well-trained and confident they can handle both day-to-day care and emergencies.
Nurses caring for ventilator-dependent children in the home require a specialized
skill set; therefore, specialized and ongoing training well beyond their basic nursing
education is necessary. Investing in the training of all caregivers and providing the
support needed for adequate and appropriate care in the home will lead to improved
outcomes for pediatric patients and their families, including a decrease in the num-
ber of accidental deaths at home. Accurate statistics need to be collected and
recorded in a national database and shared among providers who oversee the care of
mechanically ventilated children at home. These outcomes will reveal barriers to
care and negative trends that impede progress towards safer care in the home. When
barriers and negative trends are identified, interventions that result in safer, more
effective homecare may be implemented.
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Chapter 10
Troubleshooting Common Ventilator
and Related Equipment Issues in the Home
Denise Willis and Sherry L. Barnhart
Introduction
Advancements in neonatal and pediatric medicine have resulted in a rapidly grow-

ing number of children who require mechanical ventilation that extends beyond the
acute care period. Improved portable ventilator technology and the increasing avail-
ability of home health-care professionals have provided more opportunities for
these technology-dependent children to be cared for at home. The growing shift
toward care at home is further supported by evidence that medically stable children
experience improved psychosocial development and a better quality of life outside
the hospital environment [1–5]. Studies show that the number of children receiving
ventilatory support at home continues to increase [6–8].
A major factor in enabling ventilator-dependent children to live at home is the
availability of portable ventilators and associated equipment. Whether ventilation is
invasive or noninvasive and whether support is required continuously or only while
asleep, appropriate medical equipment that is functioning properly is essential. The
majority of these children, especially those who are also tracheostomy dependent,
have complex chronic conditions that place them at high risk for critical illness and
death. The addition of complicated medical equipment in the home brings this pop-
ulation at even higher risk for life-threatening events [9]. Despite the highest quality
parental and professional health care provided, no home ventilator program is
exempt from equipment-related problems or complications. This chapter addresses
D. Willis, B.S., R.R.T-.N.P.S. (*)

Respiratory Care Services, Pulmonary Medicine Section, Arkansas Children’s Hospital,
1 Children’s Way, Little Rock, AR 72202, USA
e-mail: WillisDeniseL@uams.edu
S.L. Barnhart, R.R.T-.N.P.S., F.A.A.R.C.
Respiratory Care Discharge Planner, Respiratory Care Services, Arkansas Children’s
Hospital, Little Rock, AR, USA

186 D. Willis and S.L. Barnhart
issues and problems related to the mechanical ventilator and other home medical
equipment associated with the respiratory care of ventilator-dependent children.
The Mechanical Ventilator
Lack of a centralized database or registry for children receiving home ventilation

makes it somewhat difficult to assess the extent of mechanical ventilator malfunc-
tion in ventilator-dependent children at home [10]. Although studies are limited,
those available suggest that mechanical failure is infrequent and mortality relates
most often to progression of the underlying disease or to complications associated
with a tracheostomy [11]. In a 1-year study of 150 adult and pediatric ventilator-
dependent patients in the United States, there were 189 reports of problems with the
ventilator. Of these reports 39 % were due to defective equipment or mechanical
failure, 30 % were due to caregivers improperly using the ventilator, 13 % were due
to damage to or misuse of the ventilator, and in 3 % of the reports, the ventilator was
functioning correctly but a change in the patient’s condition was misinterpreted as
ventilator malfunction. In 44 % of the cases, the problem was solved by completely
replacing the ventilator; however, in 14 % of these no mechanical fault was actually
identified, and replacement was done primarily to reassure the patient and caregiv-
ers. Adjusting ventilator settings alone corrected the problem in 21 % of the cases
and replacing a part was the solution in 6 %. Fortunately patients were hospitalized
in only 1 % of the reports [12].
A more recent study analyzed calls made to a dedicated respiratory support emer-
gency telephone hotline for pediatric and adult ventilator-dependent patients [13].
Of the more than 1200 patients that called during the 6-month study period, the
majority were receiving noninvasive ventilation with only 1 % having a tracheostomy
and only 12 % requiring ventilation continuously. Half of the calls made to the on-
call line after office hours were to report problems with the ventilator. Of these, 75 %
were related to malfunction of the ventilator and alarms, while 25 % were reports that
the ventilator alarm had identified a problem. During this same period, 188 home
visits were made following the report of problems with the ventilator or associated
equipment. Technical problems were solved in 64 % of the patients’ homes, equip-
ment was replaced in 22 % of the visits, and no problem with the ventilator or circuit
was identified in 13 % of the visits. Problems associated with the alarms were mainly
due to accumulation of water in the ventilator’s pressure line. An increased malfunc-
tion rate was seen in ventilators that had been in service longer than 8 years and in
those patients who required ventilator support for longer than 16 h per day. This may
suggest a direct relationship between failure rate and the total hours of ventilator use.
Most of the problems directly related to the ventilator were due to malfunction of the
motor blower/bellows and circuit board. Interestingly, there was an increased rate of
reported problems in ventilator models new to the market suggesting that problems
may arise that were not identified in pre-market testing.
10 Troubleshooting Common Ventilator and Related Equipment Issues in the Home 187
Although reports of ventilator malfunction are infrequent, there remain times

when equipment fails. If there is a malfunction or an activated alarm cannot be cor-
rected, the patient must be disconnected from the ventilator and either manually
ventilated with the resuscitation bag until the problem is corrected or connected to
a backup ventilator, if one is available. If the problem cannot be corrected and a
backup ventilator is not available, the durable medical equipment company (DME)
is immediately contacted for equipment replacement. Emergency medical assis-
tance is contacted if the patient experiences acute respiratory distress.
Ventilators
Current microprocessor-driven ventilators are remarkably reliable and automati-

cally undergo a safety check when the power is turned on. However, there is still the
possibility of an electrical power failure or mechanical malfunction that may result
in the ventilator failing to cycle on or failing to provide a set tidal volume or pres-
sure. To ensure proper ventilator function and to confirm that ventilator settings and
alarms are correctly set, ventilators must be regularly checked by the caregivers or
home health-care professionals. Routine monitoring can identify potential equip-
ment problems as well as determine if settings have been inadvertently changed
[14]. Mechanical problems and incorrect ventilator settings can result in overdisten-
tion of the lungs, hypoxia, hypoventilation, respiratory failure, or death. Table 10.1
lists the settings and alarms that should be monitored with each ventilator check. If
ventilator or alarm settings are found to be incorrect, a properly trained caregiver or
health-care professional should immediately return them to the ordered settings.
Using lockout features or protective covers over the control knobs can assist in pre-
venting settings from being accidentally changed.
Ventilators must be plugged directly into grounded electrical outlets that are not
used to supply power to a major appliance, such as a television, refrigerator, or air
conditioner. Power strips and extension cords should not be used and the ventilator
must be kept dry. Open containers of liquid should never be placed on the ventilator.
If the ventilator is wet or damp, the moisture increases the potential for electrical
shock. Using ungrounded outlets can result in voltage spikes that severely damage
or destroy the ventilator. These electrical surges can also cause fires or electrical
shock and pose a danger to both the patient and the caregivers.
Per the manufacturer’s recommendations, all ventilators should undergo preven-
tive maintenance to ensure proper functioning. This entails returning it to the manu-
facturer on a regularly scheduled basis, either after it has been in actual use for a
specified number of hours (e.g., after every 10,000 h of use) or after it has been in
the patient’s home or in storage for a specified amount of time (e.g., every 2 years).
Because the ventilator is physically removed from the home for an extended period,
arrangements should be made for obtaining another ventilator to use while preven-
tive maintenance is being performed.
Table 10.1 Ventilator checks Date and time check is completed

Ventilator mode
Oxygen setting
Set ventilator rate
Total patient respiratory rate
Set tidal volume
Peak inspiratory pressure
Pressure control setting
Pressure support setting
PEEP setting
Inspiratory time setting
Sensitivity setting
Low-pressure alarm setting
Low-pressure alarm audible
High-pressure alarm setting
High-pressure alarm audible
Humidifier heater setting
Temperature
Battery check—internal
Battery check—external
When ventilator malfunction is suspected, the patient is disconnected from the

ventilator and manually ventilated with the resuscitation bag. After confirming that
the patient is receiving adequate ventilation, the caregiver can search for and attempt
to correct the problem. Keeping a test lung at the bedside is helpful in being able to
quickly determine if the problem is due to ventilator malfunction or due to a change
in the patient’s condition. If the problem cannot be resolved, another ventilator must
be obtained for the patient to use.
Ventilator Alarms
Available alarm options vary widely depending upon the specific ventilator brand
and/or model. Because ventilator nomenclature is not yet completely standardized,
the same alarm may be named differently on different machines. For example, low
pressure, low peak pressure, and low inspiratory pressure will in most cases all
represent the same concept.
Ventilators are equipped with safety alarms that are sensitive to pressures and
volumes, circuit disconnections, respiratory rates, and available electrical power. It
is crucial that the alarms are set appropriately and can be heard in the intended area
of use. Improper settings, electrical power failure, weak batteries, excessive leak
associated with the interface, or alarms intentionally or inadvertently disabled may
cause erroneous alarms or failure to sound in the presence of a true alarm condition.
The alarm volume level can be adjusted on some but not all home ventilators but it
should never be disabled. Some models have a feature where the alarm volume may
have a different alert depending on the priority of the alarm. For example, there may
be a low-, medium-, or high-priority alarm.
More than 2500 adverse events associated with the use of ventilators were
reported to the Food and Drug Administration in 2010 alone. Of these events, nearly
one-third were related to ventilator alarms, with many due to human error or audible
ventilator alarm malfunctions that could have been prevented [15]. Regardless of
the alarm activated, caregivers must immediately respond by first giving full atten-
tion to the patient, assessing the clinical status, and acting accordingly. This is done
before taking steps to determine the cause of the alarm.
It has been reported that as much as 85–95 % of alarms occurring in the hospital
setting do not require intervention and are considered a nuisance [16, 17]. This high
percentage of false alarms has resulted in the phenomenon known as alarm fatigue
and has led to many health-care providers becoming desensitized to the sound of
alarms. Unfortunately, alarm fatigue has caused unnecessary deaths and other
adverse outcomes. Caregivers in the home settings are not immune to becoming
desensitized to alarms and must be educated on the potential for undesirable conse-
quences associated with not appropriately responding to all alarms.
Low-Pressure Alarms
All home ventilators have a low-pressure alarm that may be referred to as low peak
pressure or low peak inspiratory pressure. The low peak inspiratory pressure alarm
is a set pressure threshold. The alarm will sound when the peak inspiratory pressure
does not exceed this pressure threshold during the inspiratory time period. Some
models also have an alert for low PEEP. The purpose of the low PEEP alarm is to
detect a drop in PEEP, indicating a disconnection, leak in the circuit or airway, or
that the patient is actively inspiring below the set PEEP. Additionally, some home
ventilators also have the option to set the low peak pressure alarm to not sound for
pressure-supported breaths.
When a low-pressure alarm is activated, it typically indicates that the patient has
become disconnected from the ventilator (i.e., ventilator tubing is not connected to
the interface or machine) or there is a leak in the circuit. Leaks occur most often
around loose connections at the temperature probe, at the humidifier, and at the
tracheostomy tube or mask interface. Tears, cracks, or holes in the circuit adaptors
and tubing can also result in a leak. It is important to respond immediately to low-
pressure alarms by first checking the patient to assure that the circuit is connected
and the interface is secure and without leaks.
If the patient has a tracheostomy tube, it is critical that it is determined if decan-
nulation has occurred. If the circuit is adequately connected and the airway stable,
then the pressure line, exhalation line, oxygen connection, and humidifier should be
examined for loose connections. This is best done by following the circuit, begin-
ning at the patient’s connection with the circuit, and then working back toward the
ventilator, listening and feeling for leaks, cracks, and disconnects. Failure to quickly
determine the reason for the low pressure can lead to severe hypoventilation and
hypoxia with fatal consequences.
Table 10.2 Causes of Patient disconnected from ventilator

low-pressure alarm activation
Disconnect or leak in ventilator circuit
Disconnect or leak in pressure line
Loose connection in ventilator circuit
Water in pressure line
Condensation in external PEEP valve
Faulty exhalation valve
Cracked or loose bacteria filter
Leak at the humidifier
Leak at patient’s mouth
Deflated tracheostomy tube cuff
Loose inner cannula of tracheostomy
tube
Inadvertent decannulation
Inadvertent ventilator setting change
Incorrect low-pressure alarm setting
It is important to remember that a leak or disconnect may be present yet no alarm

is activated. The low-pressure alarm may not sound if the ventilator circuit becomes
disconnected and tubing is occluded by bedding or the patient’s soft tissue. It has
been speculated that decannulation may be more readily detected when the low
inspiratory pressure alarm is set at 4 cm H2O below the peak inspiratory pressure
instead of the more common practice of setting it at 10 cm H2O or greater [18].
While the study by Kun and colleagues examined only small pediatric tracheostomy
tubes, the possibility exists that a low-pressure alarm may fail to activate with any
size tube when there is an inadvertent circuit disconnection and the tubing is
occluded. Table 10.2 lists the most common causes for a low-pressure alarm to be
activated.
Low Exhaled Minute Volume Alarm
A low exhaled minute volume alarm will function essentially in the same manner as
a low-pressure alarm. It is activated when the volume of air exhaled is less than
expected, most often indicating a disconnection from the circuit or a leak.
High-Pressure Alarms
The high-pressure alarm tends to be the one most often heard and is activated when
the ventilator reaches a preset upper pressure limit. When this alarm is activated,
inspiration is immediately terminated. The high-pressure alarm may be referred to
as high peak pressure or high inspiratory pressure alarm. The purpose of this alarm
Table 10.3 Causes of Mucus or mucous plugs in airway or

high-pressure alarm tracheostomy tube
activation
Blockage in airway or tracheostomy
tube
Obstruction or kink in ventilator circuit
Excessive water condensation in
ventilator circuit
Patient coughing
Patient holding breath
Condensation in external PEEP valve
Inadvertent ventilator setting change
Incorrect high-pressure alarm setting
is to alert caregivers to a potentially dangerous situation in which the inspiratory

pressure has reached an unacceptably high level. Some models may also have a high
PEEP or high expiratory pressure alarm, indicating the exhaled pressure has
exceeded the set alarm threshold.
Activation is most often due to increased resistance or obstruction in the ventilator
circuit or the patient’s airway. The most common problems include increased pulmo-
nary secretions requiring suctioning, coughing, mucous plugging in the inner can-
nula or in the heat and moisture exchanger, kinked or bent ventilator tubing, excessive
water in the circuit, ventilator dyssynchrony, and physical activity such as kicking,
squirming, or crying. Table 10.3 lists the most common causes for a high-pressure
alarm to be activated. As an additional feature, some home ventilators offer a high-
pressure breath delay in which the breath is terminated but the audible alarm will not
sound until up to three consecutive breaths with high pressure have occurred.
High Exhaled Volume Alarm
The high exhaled volume alarm is activated when the volume that the patient exhales
reaches a preset upper volume limit. Hyperventilation resulting from anxiety, pain,
or hypoxemia is the most common cause for this alarm to sound.
Apnea Alarm
This alarm sounds when the time since the start of the last breath is longer than a preset
apnea interval. Commonly available options for apnea alarm delay are 10–60 s. The
prescribed setting will be based on multiple factors including age, patient condition, and
need for ventilator support. Activation of this alarm usually indicates that the patient’s
respiratory rate has decreased or apnea is occurring; however, it may also occur when
the patient becomes disconnected from the ventilator and breathing is not detected.
Disconnect Alarm
Some home ventilators have a disconnect alarm that is activated when a sensing line
becomes disconnected or occluded. The alarm will also activate when the breathing
circuit has become detached from either the child or the machine. Select models offer
an option to either enable or disable this alarm. When enabled, it can be set to delay
the audible alarm from 5 to 60 s. This could be useful when briefly disconnecting to
replace the circuit or suction the tracheostomy tube. However, caution should be taken
to ensure the child can sustain adequate ventilation when removed from ventilator
support, and a manual resuscitation bag should be ready for use when necessary.
As with the low-pressure alarm, when the disconnect alarm sounds, the caregiver
should immediately assess the patient and determine the reason for the alarm trig-
ger. Failure of an alarm to activate, especially the low-pressure, apnea, and discon-
nect alarms, can result in life-threatening events. This is even more critical with
patients who have little to no breathing autonomy or those who need the ventilator
during sleep [19]. The manual resuscitation bag should be used to ventilate the
patient if the disconnection status cannot be quickly determined.
Low Battery Alarm
Ventilators used in the home have both an internal battery and an external battery
source. The low battery alarm is activated when the voltage in either of these batteries
becomes low. Often the alarm begins as a slow beep or chirp. As the voltage gets lower,
the alarm sounds louder and longer. The alarm will sound continuously if the battery is
fully drained and the ventilator is not connected to an electrical power source.
Low Power/Power Failure Alarm
A low power alarm will be activated if there is an inadequate source of power. This
may occur with an electrical power failure or loss of battery power. Immediate steps
must be taken to determine the malfunction of the power system. The most common
causes for this alarm are the electrical cord is not completely plugged in to the back
of the ventilator, the cord has become disconnected at the electrical outlet, or the
internal battery has drained and needs recharging. An electrical power failure may
also be corrected by simply replacing a fuse, resetting the circuit breaker, or con-
necting the ventilator to a battery.
Ventilator Circuits
The patient breathing circuit includes the ventilator tubing and humidification sys-
tem, mask or tracheostomy tube connector, and the parts that make up the tracheos-
tomy tube or mask interface. Problems associated with circuits are usually due to
cracked or loose adaptors that result in leaks or inadvertent disconnections. Water

from condensation can collect in the tubing and cause alarms to be activated. Most
circuits used in the home today are disposable and discarded after use. Ideally two
caregivers should be present when changing out the ventilator circuit; however, this
may not be possible if a circuit must be changed during an emergency situation.
Prior to changing a circuit, the new circuit should be completely assembled and
ready to use. Problems associated with a circuit often arise following a circuit
change; therefore, caregivers are advised to perform a complete ventilator check
immediately after a circuit is changed. Keeping a completely assembled clean cir-
cuit readily available at all times is also recommended. Except in an emergency situ-
ation, tape should never be used to secure adaptors within a circuit or to correct
leaks within the tubing.
Batteries
Ventilators are electrically powered and can be run using a grounded electrical out-
let with 120 V of alternating current (A/C), an internal direct current (D/C) battery
located inside the ventilator, or an external D/C battery (see Fig. 10.1). Voltage may
vary according to the country and region in which the ventilator is operating.
Depending upon the battery type, age of the battery, and ventilator settings, a fully
charged internal battery only supplies power for approximately 30–60 min, while an
external battery may provide power for 4 up to 24 h. The internal battery is built into
the ventilator and used mainly for short-term events or when there is a sudden drop
in electrical power to the ventilator, which may occur during an electrical power
failure or when the ventilator is accidentally unplugged. Internal batteries are
recharged, while the ventilator is plugged into an electrical outlet; however, they
may not recharge when the ventilator is plugged into an external battery. For this
reason caregivers are advised to keep the ventilator plugged into an electrical outlet
while at home.
Most home ventilator brands offer a portable, lightweight, external battery
option. Deep cycle marine batteries are often also utilized. Battery performance
and duration can be affected by age, amount of use, and the temperature in
which it is operated. It is important to follow manufacturer instructions to pre-
serve maximum battery life.
If electrical power is lost, the ventilator will automatically switch to the internal
battery, unless the external battery is connected. Most ventilators audibly alarm and
provide a visual indication that the internal or external battery is providing power. A
malfunction occurs if the ventilator does not change over to the internal battery or if
the external battery is not charged. If neither battery is functioning, the patient
should be disconnected from the ventilator and manually ventilated with the resus-
citation bag until the ventilator can be replaced.
It is good practice to mark the circuit breaker or fuse that controls the electrical
outlet(s) frequently used for the ventilator and keep extra fuses readily available.
Battery cables may break as a result of poor or rough care and should be immedi-
Fig. 10.1 External ventilator battery with charger
ately replaced. The use of extension cords cannot be recommended. Manufacturers

recommend using only their product-specific cables and accessories.
Interface
Home mechanical ventilation can be accomplished either invasively with a

tracheostomy tube or noninvasively with various interface options. The choice of
invasive or noninvasive interface is dependent upon many factors including clini-
cal condition, prognosis, underlying cause of need for ventilation, level of
required support, and preference of the clinician, patient, and/or caregiver.
Regardless of whether administered invasively or noninvasively, the need for
ventilator support is not diminished by the choice of interface as some individu-
als are dependent upon noninvasive ventilation (NIV) on a continuous basis. In
recent years there has been a trend toward NIV when it is a viable option due to
the potential for fewer complications as compared to tracheostomy [20].
Tracheostomy Tubes
One of the most common problems encountered with the tracheostomy tube in
respect to the ventilator is leak. Tracheostomy leak can cause a variety of issues
including low-pressure and low minute volume alarms, low exhaled volumes, auto-
cycling of the ventilator, and in some cases, inadequate ventilation leading to oxy-
gen desaturation. Not only is leak around the stoma a contributing factor, but also
mouth leak when attempting to speak or while sleeping. Tracheostomy leak tends to
be more prominent during periods of sleep when the patient is more relaxed. The
majority of the time a leak is more of a nuisance than a major concern. For minor
leaks, simple repositioning of the head and/or neck or adding an extra layer of gauze
padding around the stoma can help alleviate the problem. Ventilator settings can
also be adjusted to help compensate for a leak but caution should be taken to not
over ventilate if the leak is not consistent.
If the leak is causing inadequate ventilation and all other approaches to correct it
have failed, a larger-sized tracheostomy tube may be needed. In pediatrics, uncuffed
tracheostomy tubes are generally preferred [21]. However, a cuffed tube might be con-
sidered if upsizing the tube is not an option and ventilation is adversely affected, as
evidenced by elevated carbon dioxide or decreased oxygen saturation. Oftentimes the
cuff can be left deflated while the patient is awake to allow for vocalization. It is then
inflated only during sleep using the least cuff volume necessary to correct the leak.
Noninvasive Ventilation Interfaces
The most crucial element to the success or failure of long-term NIV is the interface.
The first factor that should be considered when NIV is poorly tolerated is the appro-
priateness and fit of the interface. There are many different styles, sizes, and variet-
ies of NIV interface options including nasal and full face masks, nasal pillows, oral
and oronasal interfaces, and mouthpieces (see Figs. 10.2, 10.3 and 10.4). Determining
which one the patient will use and can tolerate is perhaps the biggest challenge.
There are limited NIV interface options for children, and only over the past few
years have masks been specifically designed for the pediatric patient. Previously,
adult-sized masks were adapted for use in children. There is a helmet apparatus for
NIV but it is not currently approved by the US Food and Drug Administration at the
time of this writing.
Just as with a tracheostomy, leak is also a major issue with the mask interface.
Leak with NIV is most often the result of an inappropriately fitting mask, the mouth
falling open during sleep, or the need to adjust the headgear. A chin strap can be
employed in cases where the leak is due to mouth opening (see Fig. 10.4). A full
face mask can also be considered for this but caution must be taken as the mask
must be removed quickly in the event of emesis so as to avoid aspiration. Many full
face masks incorporate an air entrainment valve so the patient can breathe room air
in the event of a power failure.
Mask adjustment can become a vicious cycle. The headgear is often over tight-
ened to eliminate leaks, which in turn puts pressure on various points on the face
including the forehead, bridge of the nose, and upper lip. Skin breakdown and pres-
sure sores can also occur with long-term use, making it difficult for the patient to
adhere to NIV. Alternating the mask with a nasal pillow style interface might be
helpful to avoid this and allow time for the skin to heal. Additionally a skin barrier
could be utilized. There are commercially available products specifically designed
Fig. 10.2 Nasal pillows
Fig. 10.3 Full face mask

Fig. 10.4 Nasal mask with cap headgear and chin strap
Fig. 10.5 Skin barrier for

use with nasal mask
for this purpose (see Fig. 10.5). Despite the best precautions, facial hypoplasia and
flattening can occur due to long-term use of a noninvasive interface [22–24].
When using a home mechanical ventilator for NIV, instead of a bi-level or CPAP
device, consideration must be given as to whether the mask is vented or non-vented.
A vented mask has an exhalation port, while a non-vented mask does not. If the
ventilator circuit has an incorporated exhalation valve, a non-vented mask is the
better option to avoid excessive leak. Otherwise the exhalation port on a vented
mask should be occluded or the ventilator will never reach the prescribed pressure
or volume setting. If the ventilator circuit does not employ an exhalation port, a
vented mask would be the best choice; otherwise, an exhalation valve or port would
have to be added if using a non-vented mask.
Many times patients have several masks they have used at home or sometimes
even taken home after use during a hospitalization. The potential exists for a non-
vented mask to be mistakenly used with a circuit that does not have an exhalation
valve. Thorough education for caregivers is a must in order to avoid an adverse
outcome in this scenario. If a non-vented mask is inadvertently used, a high-pressure
alarm would most likely sound but alarms have been known to fail.
Mouthpiece or sip ventilation is becoming a more common practice for individu-
als with neuromuscular disease requiring some amount of ventilator support during
the day. It is typically used only during the daytime with a mask worn during periods
of sleep. These patients may not have use of their hands because of profound muscle
weakness. This leads to problems in securing the mouthpiece in a manner in which it
will be easily accessible to the patient. Previously there were no commercially avail-
able devices for this and parts had to be pieced together; however, new technology
has made this more efficient (see Fig. 10.6). Another issue with sip ventilation is
setting the machine appropriately, usually in a spontaneous mode, so the patient can
trigger a breath when desired and thereby preventing the machine from blowing air
in the patient’s face or constantly alarming.
It should be noted that there are several limitations with using a bi-level device
connected to a tracheostomy in the home setting. Bi-level devices are not
approved by the US Food and Drug Administration for invasive use in the home
as they are not considered life support equipment. While there is a particular
brand of bi-level device specifically designed and approved for invasive use in
the home, the manufacturer instructions state it is not intended for life support.
Additionally, bi-level devices generally do not have an internal battery that will
power the device in the event of electrical outage, and the alarm options vary
considerably among brands. If bi-level-type settings are desired, there are home
ventilators that offer these options.
Humidification
Humidification during mechanical ventilation is an absolute necessity in the pres-

ence of an artificial airway but is considered optional for NIV [25]. Inadequate
humidification can lead to dried, retained secretions resulting in mucous plugging
Fig. 10.6 Sip ventilation

circuit mounted on
wheelchair (Used with
permission of Philips
Respironics, Murrysville,
PA)
and atelectasis. Long-term consequences of inadequate humidification may result

in mucosal dysfunction including slowed mucociliary transport and cell damage
[26, 27]. However, excessive humidification can also be problematic. The goal is to
deliver optimal humidification that mimics the normal physiological conditions
present in the airway.
Humidification can be accomplished with either active or passive methods.
Active humidification involves the use of a heated humidifier which works by
increasing the heat and water vapor content of inspired gas. Passive humidifica-
tion is the use of a heat and moisture exchanger (HME), often referred to as an
“artificial nose.”
Heated Humidifiers
The heated humidification system should provide a humidity level between 33 mg

H2O/L and 44 mg H2O/L with a gas temperature of 34–41 °C at 100 % relative
humidity (RH) for invasive ventilation. A maximum delivered temperature of 37 °C
and 100 % RH at the circuit wye is recommended as condensation occurs with
higher temperatures at 100 % saturation. Condensation can adversely affect muco-
ciliary transport when mucus becomes thin and watery due to decreased mucus
viscosity and increased pericellular fluid. Temperatures above 41 °C are considered
a thermal hazard [25].
Inappropriate heater settings or heater malfunction may cause overheating of
the inspired air to the patient and can result in thermal injury to the airways. The
opposite may also occur in which the air delivered is too cool causing the pulmo-
nary secretions to become thick and difficult to remove, which raises the risk of
mucous plugging. It is important to ensure that the water chamber of a heated
humidifier is not allowed to become dry, especially when used with a tracheostomy
tube. Only sterile water should be utilized to minimize the chance of infection. If
it is not available, tap water that has been boiled for 5 min can be used in its place.
Distilled water should not be used as it can potentially be contaminated [28].
One of the more common problems in using heated humidification in the home
setting is excessive condensation or “rain out” in the ventilator circuit. Circuit con-
densation actually represents under humidification and is a result of gas rapidly
cooling in the tubing after leaving the chamber [27]. Causes include direct air drafts
such as from fans or air-conditioning vents or a cool room temperature. Avoiding
sources of drafts can help but this can be challenging for patients preferring cooler
temperatures. Insulating the circuit with a wrap designed for tubing can also help
alleviate much of the excess (see Fig. 10.7).
Circuit condensation can lead to several problems. It can cause the ventilator
to auto-cycle and the high frequency/breath rate alarm to be activated. If con-
densation collects in the pressure lines of the circuit, it may also cause the ven-
tilator to alarm. The potential also exists for accidental patient lavage. Circuit
condensation should never be drained back into the humidifier as it is consid-
ered contaminated [25, 27, 29]. Although it may be difficult with heated wire
circuits, a water trap can be used to remove condensation. Otherwise disconnect
the tubing and drain the condensation on a towel or into a container to be
discarded.
A heated tracheostomy collar, also referred to as a “mist collar,” is frequently
utilized during periods of sleep for those patients weaning from mechanical
ventilation. It may also be used by patients during waking hours when more
humidification is needed than an HME can provide. Bland aerosol, defined as
delivery of sterile saline or water in aerosol form, is not a substitute for active
humidification for patients receiving mechanical ventilation [30]. It should be
avoided as a form of humidification because aerosol particles are capable of car-
rying particulate matter, whereas water vapor cannot, thereby increasing the
Fig. 10.7 Zippered

insulation wrap for
ventilator circuit
risk of infection [27]. Additionally, it has been shown in a tracheostomized,

ventilated rabbit model that water administration via nebulizer (bland aerosol)
may cause over-humidification, potentially leading to decreased alveolar air
space, increased intra-alveolar and interstitial edema, and increased pulmonary
arterial wall thickness [25–27, 31].
Heat Moisture Exchangers
While both active and passive humidification devices are acceptable for use with a
tracheostomy tube, HMEs are more appropriate for short-term use (see Fig. 10.8).
They may be inadequate for continuous use and are not recommended as a means of
infection control in preventing ventilator-associated pneumonia [25]. The HME
should deliver an absolute humidity of at least 30 mg H2O/L for adequate humidifi-
cation [25]. A fairly common practice is to utilize an HME during the day for por-
tability and travel outside the home while using a heated humidifier at night. It also
Fig. 10.8 Heat moisture

exchanger
must be taken into account that the presence of an HME increases resistance and
dead space which may lead to increased work of breathing in some patients [25, 29].
Additionally, an HME may cause the ventilator low-pressure alarm to be ineffective
during disconnection [25].
Humidification with Noninvasive Ventilation
Although considered optional for NIV, humidification should not be disregarded.

The high flows associated with NIV can disrupt the body’s normal airway humidi-
fication process. Histopathological changes, increased vascularity of the nasal
mucosa, and inspissated secretions have been reported in cases in which NIV was
used without humidification [32–34].
Nasal congestion and oral dryness are common symptoms associated with use of
NIV [35]. Leaks from both the mouth and around the mask can contribute to problems
with humidification [33]. Use of heated humidification with NIV has been shown to
increase comfort and adherence [25]. As standards have not yet been established, the
temperature setting for the humidifier is generally based on patient preference [25,
33]. Heaters designed for use with NIV typically do not have a numerical temperature
option but rather a dial to increase or decrease warmth. However, they are designed
not to exceed 41 °C. Heated humidification is preferred over an HME for NIV because
of decreased work of breathing due to less dead space [25, 32, 36].
Oxygen
With the exception of cystic fibrosis and other intrinsic lung diseases, the conditions
seen in children who require supplemental oxygen often tend to improve with time
such as with chronic lung disease of infancy. Those with neuromuscular diagnoses and
congenital central hypoventilation syndrome (CCHS) generally do not utilize oxygen
since the need for ventilator support is related to control of breathing for CCHS and
respiratory muscle weakness in children with neuromuscular conditions rather than an
underlying lung disease. Ventilator-dependent children are not always discharged
home using continuous oxygen, but for those who are, many are weaned to needing it
only at night and eventually not requiring it at all or just with acute illness.
Home oxygen is available in three forms: a liquid system, oxygen concentrators,
and cylinders of oxygen. It is supplied by a DME provider who often makes the
decision of which particular form to use. Required flow rate, patient mobility, and
available space in the home are taken into consideration in choosing which option
will be supplied. As children are rarely homebound, portable equipment should be
provided as well as the stationary unit that remains in the home [37].
Liquid Oxygen System
A liquid oxygen system consists of a bulk storage reservoir unit and a small canister
(see Figs. 10.9 and 10.10) that is refillable and portable for transport. While at home,
the patient can use oxygen directly from the reservoir unit or can refill the canister
and carry it from room to room in the home. Various style and sizes are manufactured
but basically they all operate the same. There are several advantages to using a liquid
system. They do not require electricity or generate heat, little noise is produced, and
the canisters are lighter than oxygen cylinders and refillable at home using the reser-
voir unit. The main disadvantage to using the liquid oxygen system is that the DME
provider must regularly refill the reservoir unit. How often this occurs depends upon
the size of the reservoir unit and the required oxygen flow rate; however, it can be as
frequent as once each week. Another disadvantage to the liquid system is that gas
evaporates from the canisters whether the flow is on or off.
Most problems with a liquid oxygen system occur when refilling the canister. Ice
crystals can form around the filling ports causing the connection to freeze and mak-
ing it difficult to remove. It may take as long as 30 min for thawing to occur before
the canister can be removed. This may be prevented by using a towel to dry the ports
prior to connecting the canister. Caregivers are advised to allow for this possible
delay when deciding when to refill the canister. White vapor spewing out of the fill
port after removing the canister from the reservoir unit is another frequently encoun-
tered problem. This is usually an indication that the fill valve is stuck or frozen in
the open position. This can be corrected by immediately reconnecting the canister
Fig. 10.9 Liquid oxygen
reservoir unit
Fig. 10.10 Portable liquid

oxygen canister
to the reservoir unit and waiting approximately 20 s before removing it. The greatest
problem with liquid oxygen systems may simply be that the high cost of supply and
delivery is causing many DME providers to no longer offer it as an option.
Oxygen Concentrators
Oxygen concentrators are electrically powered devices that separate oxygen from
nitrogen in room air and then dispense the oxygen through a flow meter [38]. They
include a colored visual alarm, which is triggered if the oxygen concentration falls
below a certain level, and an audible alarm that is activated if there is a loss of elec-
trical power. Concentrators are available as both stationary and portable units (see
Fig. 10.11). Because they are cost prohibitive, most DME providers do not supply
Fig. 10.11 Stationary and portable oxygen concentrators

the patient with portable concentrators except in special circumstances, such as

airplane travel. Instead oxygen cylinders are usually provided to use for transport
and as an alternative source in case of an electrical power outage or mechanical
failure of the concentrator.
It should be appreciated that the oxygen purity delivered by a concentrator is
lower than that from piped oxygen and is dependent upon the flow rate [39, 40]. The
delivered concentration decreases as the liter flow requirement increases, making
the concentrator unsuitable for some patients, especially those requiring higher flow
rates. The concentration has also been found to decrease with increased working
duration of the concentrator [41, 42]. The maximum concentration of oxygen
obtained during studies was about 96 %, and a concentration greater than 90 % was
usually attainable only when flow rates were less than 5 L/min. Oxygen concentra-
tion was found to decrease to less than 50 % when flow was maintained at 12 L/min
or greater [43, 44].
Advantages to using oxygen concentrators are they can be easily moved from
room to room, they cost less to use than bulk oxygen tanks, they do not require
refilling, and they provide an unlimited supply of oxygen as long as there is avail-
able electrical power. Caregivers often complain that concentrators are noisy and
that use results in an increase in their monthly electricity costs. Concentrators also
generate heat which often causes the family to require additional cooling in the
home, adding even more to their utility expense [45].
Stationary oxygen concentrators have minimal problems. Loss of electrical
power that occurs during a storm or when the power cord becomes disconnected is
the main reason the audible alarm is activated. The visual alarm may be activated if
the intake filter is clogged with lint, in which case the filter should be replaced.
It may also be activated if the concentrator’s air intake area is blocked, for example,
by furniture or curtains. It is important that caregivers provide the patient with
another oxygen source before trying to determine the reason for the alarm.
Oxygen Cylinders
Oxygen cylinders are a very cost-effective option for providing oxygen in the home.
They are less expensive than liquid oxygen and can be stored without gas evaporat-
ing. Unlike oxygen concentrators, cylinders do not require electricity or generate
heat. Various sizes are available. The smaller cylinders have carrying cases which
make for easy mobility, while E cylinders have a two-wheel cart that can be pulled.
The major disadvantages of using oxygen cylinders are their frequent need for
replacement, bulkiness which requires storage space, and the potential safety issues
that arise when gas is contained under high pressure.
Monitoring
Standards of care are lacking regarding both the equipment utilized and the fre-
quency of home monitoring for ventilator-dependent patients. Practices and recom-
mendations differ among institutions and by region. Reimbursement, which varies
from state to state, often determines what can be obtained for home. Options for
monitoring the ventilator-dependent patient at home include the pulse oximeter,
end-tidal carbon dioxide monitor, and apnea monitor. And although not considered
monitors, ventilators today may be equipped with a smart card that can provide
information about the patient and equipment. Data that is downloaded from the card
may then assist with determining if problems exist. This can include identifying
inappropriate ventilator settings, airway leaks, or patient dyssynchrony.
Pulse Oximeter
There are several potential problems that may be encountered with the pulse oxim-
eter at home, most of which are related to the sensor. Table 10.4 lists factors that
contribute to false results. A monitor that has a waveform display is helpful for
distinguishing when signal strength is sufficient to produce a reliable reading. An
accessory wrap can be utilized not only to reduce ambient light but also to help
secure the probe in place. If the probe is placed on a toe, wearing a sock can help
with keeping the probe securely in place. Nail polish should not be used on fingers
or toes where the probe will be placed.
Most pulse oximeter probes are designed to be used on the fingers or toes. There are,
however, probes designed for use on the forehead or nose. When placing the probe, the
red light-emitting diode must directly align with the photodetector so one can communi-
cate with the other. Inaccurate readings are likely to occur if they are not properly aligned.
A faulty sensor or cable should be suspected when the pulse oximeter will power
on but a reading is either not displayed or shows only intermittently. This often
occurs when the probe has become worn, is dirty, or the internal circuitry has been
damaged. If replacing the probe does not resolve the problem, the next step would
Table 10.4 Factors Low perfusion—weak pulse,

contributing to false pulse hypotension, hypothermia
oximetry readings
Motion artifact—tremors, seizures,
shivering, excessive movement
Improper sensor placement
Probe secured too tightly or too loose
Bright ambient light
Dirty probe
Nail polish
be to change the cable which connects the probe to the pulse oximeter device. The
probe should always be replaced if wires are exposed. Caregivers should be
instructed on how to place the probe on themselves to test if it is working properly.
While usually a rare event, thermal burns and/or skin breakdown can occur if the
sensor is not rotated at regular intervals [46, 47]. Infants and patients with fragile skin
are more susceptible to this occurrence. The frequency of rotation may vary depending
on manufacturer recommendations and the patient’s individual needs. Establishing a
schedule for changing the probe site at specific intervals can help avoid this problem.
Most pulse oximeter devices have an internal battery for portability. Caregivers
should be aware of the battery capacity and plan accordingly when away from
home. Ideally an oximeter with recording and downloading capabilities is preferred
so usage and trends can be reviewed by the clinician.
End-tidal CO2 Monitor
The use of routine monitoring of end-tidal carbon dioxide (PETCO2) for home is
not a common practice. However, there is evidence to support its use in monitoring
patients with congenital central hypoventilation syndrome (CCHS) [48]. It is impor-
tant to note that PETCO2 may be underestimated in those with intrinsic lung dis-
ease. Breath-to-breath variation may also be observed depending on respiratory rate
and effort. Typically the device will require calibration per the manufacturer speci-
fications. Obtaining a reliable reading tends to be the most common problem with
use of the end-tidal CO2 monitor at home. Some models have a waveform display
that may assist in determining if the reading is reliable. It is important to appreciate
underestimation in the presence of lung disease and breath-to-breath variation.
Apnea Monitor
Since their introduction in the mid-1960s, apnea monitors, also known as cardiore-
spiratory monitors, have continued to be used at home by infants and children who
have conditions that may result in episodes of prolonged apnea. A policy statement
issued by the American Academy of Pediatrics in 2003 and reaffirmed in 2007 notes
that apnea monitors may be warranted in patients who are at risk of sudden death.
This includes infants with tracheostomies and those who require mechanical venti-
lation [49]. Current practice varies in the use of apnea monitors with ventilator-
dependent infants and children. While monitors are believed by some to be an
essential tool for detection of apnea, others feel that use is redundant with ventila-
tors that have intrinsic apnea alarms.
Apnea monitors determine and display the patient’s respiratory rate and heart
rate. Alarms are activated when central apnea, bradycardia, or tachycardia occur.
Using impedance pneumography, the monitor detects respiratory movements by

measuring the change in electrical impedance between two electrodes placed on the
patient’s chest. The electrode pads are maintained in place with a soft belt wrapped
around the patient’s chest and held together with a Velcro attachment. Failure to
detect respiratory movement results in activation of an apnea alarm. It is critical to
note that the apnea alarm will not be activated in the presence of obstructive apnea,
such as occurs with an obstructed tracheostomy tube or occluded mask. However,
obstruction that continues for an extended time eventually leads to bradycardia
which will activate an alarm.
Although currently used mainly in the hospital setting, cardiorespiratory moni-
tors are now available that monitor respiratory rate, heart rate, and SpO2. With the
additional ability to monitor oxygenation, these monitors may be capable of more
quickly detecting obstructive events. Home apnea monitors include event-recording
capabilities. This allows for interpretation of data that details the time and type of
alarms, severity of apnea events, and hours of monitor use.
Problems encountered in the use of apnea monitors in the home are mostly
related to activation of loose-lead or machine alarms. The loose-lead alarm may be
activated when oil is present on the skin or the electrode pad, electrodes become
detached from the pads, cable wires become detached from leads, or the belt is too
loose causing the electrode pads to not be in close contact with the chest wall.
Alarms may be activated if the electrode pads are not placed under the appropriate
arm or if the monitor battery is low. Electronic or radio frequency from cordless
phones or other devices may interfere with alarm function. If this is suspected, then
the monitor should be placed at a sufficient distance from the devices.
Regardless of the type of monitor used in the home, caregivers should be
reminded not to solely rely on the device but to also closely observe the patient for
signs and symptoms of respiratory distress that may occur before an alarm is acti-
vated. Additionally, erroneous monitor readings could be mistaken for distress in
the absence of other indicators of difficulty breathing. A vigilant and competent
caregiver is often preferred over any monitoring device available. Without the
knowledge to interpret the information from the monitor correctly, the best monitor-
ing devices are useless.
Additional Equipment in the Home
Children dependent upon home mechanical ventilation are not a homogenous

group. The etiology of the need for ventilator support can range from chronic lung
diseases of infancy to neuromuscular disease to spinal cord injury and much more.
Not all individuals requiring home ventilation have intrinsic lung disease or require
additional respiratory modalities such as airway clearance. Therefore, additional
equipment in the home, other than the ventilator, will vary in each case.
Suction Machine
If the patient has a tracheostomy, a portable suction machine is considered standard

of care. In some cases the patient may have both a portable machine and a stationary
machine that remains in the home. A leak or crack in the suction canister is the most
common problem encountered and is cause for the canister to be immediately
replaced. To prevent bacterial contamination, the canister should be cleaned at least
once each week or whenever it requires emptying. Failure to empty the canister and
allowing its contents to overflow can result in the filter becoming wet or even perma-
nently damage the machine. The filter should be changed every 2 months or any time
it becomes wet or soiled. If the machine does not provide a vacuum, it is most likely
due to a kink in the connecting tubing. This tubing should be changed weekly or
whenever it is heavily soiled. The portable machine relies on a battery for power and
should be kept plugged into an AC power outlet when it is not in use. If the internal
battery power is drained, the suction machine must be connected to AC power.
Resuscitation Bag
A self-inflating resuscitation bag is mandatory equipment for a ventilator-dependent

child. Although flow-inflating bags are often used in the hospital setting, they require
high flows and should be used with a pressure manometer. For these reasons they are
not recommended for home use. There are several designs of resuscitation bags; how-
ever, the basic components include a valve head that connects to either a tracheostomy
tube or a mask and the body that is squeezed. The most common problems experi-
enced with a resuscitation bag include malfunction of the valve head and a leak in the
body. The valve head can become cracked, disassembled, or disconnected from the
body of the bag. A leak in the body will result in inadequate air filling the bag.
Caregivers should be instructed to test the bag daily for correct valve function
and for leaks. Valve function can be tested by squeezing the bag completely and
then releasing the bag while keeping the outlet occluded with the palm of the hand.
If the bag does not refill, then the valve may be sticking. When this occurs the valve
head should be taken apart, reassembled, and the test repeated. The bag should be
replaced if it cannot refill freely.
To determine if the bag is free of leaks, the caregiver occludes the outlet of the
bag with the palm of one hand while squeezing the bag with the other hand. Pressure
will build in the bag if it is functioning correctly. Failure to do so indicates a leak. If
a leak is present, then all connections should be checked and the test repeated. If the
leak remains, then the bag should be replaced.
Resources When Equipment Fails
Educating parents and caregivers on the proper use of the home equipment and pro-
viding them with a plan of action should a problem occur is essential for successfully
providing care at home. Identifying and troubleshooting problems with the ventilator
and other respiratory equipment should be part of the competency training provided
to parents and caregivers prior to discharging the patient from the hospital. Addressing
when they should seek outside assistance and who to contact when advice is needed
should be included. Although it varies as to whether or not a landline phone is man-
datory, there must be twenty-four hour telephone access within the home.
Be it the DME company or the hospital, whoever provides the equipment in the
home is the one who should be responsible for addressing mechanical issues or equip-
ment failure. It is inappropriate to direct malfunction problems to the primary care
physician or the home nursing company. Therefore, when selecting the DME provider,
it is important to note if the company maintains therapists or nurses who are proficient
in caring for and assessing a ventilator-dependent child and who can also solve equip-
ment problems. Although delivery personnel and sales staff may provide home assis-
tance, it is far better to have competent respiratory therapists or nurses available 24 h, 7
days per week to respond to issues concerning equipment malfunction.
Emergency and Disaster Preparedness
When preparing for the initial transition from hospital to home, emergency
preparedness is not a subject to be taken lightly for this patient population. A sur-
vey of parents and caregivers of children dependent upon electrically powered
medical devices at home found that most were not adequately prepared [50].
Unfortunately the importance is usually highlighted when a disaster has occurred
but once a sense of normalcy returns, complacency often sets in until the next
catastrophic event.
Depending on geographical location, natural disasters, such as tornadoes, hurri-
canes, earthquakes, and floods, are potential threats that may cause extended power
outages. Another possible emergency event is a blackout. During the 2003 blackout
in New York, emergency medical services and hospitals experienced an unexpected
increase in calls and visits from patients dependent on electrically powered respira-
tory devices at home [51]. This was also the case during the 2011 Japan earthquake
where 75 % of pediatric admissions were technology assisted patients [52].
Table 10.5 Contents of Ventilator circuit and adaptors

emergency travel bag
Heat moisture exchangers
List of ventilator settings
List of medications
Cleaning solution
Names and phone numbers of
healthcare/community resources
• Hospital
• Clinic
• Physicians
• Durable medical equipment
company
• Oxygen supply company
• Home care nursing company
Emergency Generators
During periods of prolonged power outage, a generator is one source of external power that
can be utilized. While often recommended, it is not usually considered a necessity and
many families are unable to obtain one. When a generator is available for use, one should be
mindful that it is powered by gasoline. The cost of gasoline and the ability to obtain it during
a disaster may become troublesome issues during a prolonged emergency or disaster.
Generators should be routinely maintained per manufacturer recommendations.
They should also be periodically tested for proper function so that when the need
arises to utilize it, caregivers are prepared and knowledgeable in its operation.
Portable generators should be kept outside when in use to ensure adequate ventila-
tion. Because the patient often requires equipment in addition to the ventilator, the
generator’s wattage rating should be noted, especially if the family plans to use it to
power other devices. Consideration should be given to other equipment that requires
an electrical power source. This includes oxygen concentrators, suction machines,
air and aerosol compressors, airway clearance devices, and feeding pumps. Some of
these devices have an internal battery backup but others do not. Other potential
sources of external power supply include an inverter and car adapters.
Emergency Plans
Just as public schools and businesses have drills and emergency preparation plans
in place to use in the event of a prolonged power failure or need for evacuation, a
similar plan should exist for technology-dependent children living at home.
Practicing drills in the home setting can help avoid additional problems that might
be encountered should a disaster actually occur. A Japanese study of evacuation
Table 10.6 Future investigative issues concerning home equipment

Use and availability of generators in the home
Requirements concerning a “backup” ventilator
Cost-effectiveness and necessity of home monitoring
Home surveillance with videophone monitoring
Determination of which to use—apnea monitor, pulse oximeter, or both
Humidification practices with noninvasive ventilation
Safety and effectiveness of oxygen placement within the ventilator circuit
Frequency of home visit impact on hospital readmissions
Time frame post-discharge in which caregivers experience most technical problems
Time frame post-discharge in which DME company and nursing staff receive most calls
concerning equipment problems
Effectiveness of training caregivers prior to discharge
• Various teaching methods—e.g., simulation, online instruction, bedside instruction, written
manuals, videos
• Requirements concerning the mandatory number of caregivers to be instructed on equipment
use and operation
• Rooming-in with patient prior to discharge—frequency, duration, location, responsibilities
disaster drills for those receiving home ventilation revealed three crucial elements
for preparedness: the need for community awareness of the ventilator-dependent
child, the family’s practice of emergently leaving the home, and involvement of
home nurses [53].
The family’s emergency plan should include a list of places and addresses close
to home where they can expect to obtain power. Hotels, hospitals, fire houses, and
emergency halls are often able to maintain power during widespread outages. Out-
of-town family and friends should also be listed. A travel bag should be packed and
readily available to take along with the tracheostomy go bag. Table 10.5 lists the
suggested contents of this bag.
The American Academy of Pediatrics policy statement regarding emergency
preparedness for children with special needs recommends the use of an emergency
information form (EIF) [54]. The EIF is a medical summary that includes informa-
tion such as medical condition, medications, and health-care needs to facilitate
emergency care. It should include disaster planning and be routinely maintained and
updated every 6 months [54].
Summary and Future Research Needs
In summary, there are many potential problems that may occur in the home of the
child dependent upon mechanical ventilation. The majority of issues tend to be
equipment related; however, a properly trained and alert caregiver is critical for the
ventilator-dependent child to safely remain at home. Despite the type of interface
used and length of time dependent upon ventilator support, it is always important to
respond to all alarms in a timely manner. Adequate humidification, appropriate oxy-

gen use, and monitoring are also vital elements. History has shown that emergency
and disaster preparedness should not be taken lightly.
Care of the ventilator-dependent child remains complex partially due to techno-
logical advances that have created more options and availability of equipment in the
home. This includes not only the ability to provide additional types of equipment
but to also provide more complex models of equipment currently used. And as tech-
nology changes, so do the questions concerning availability and appropriateness of
the equipment and care provided at home. Although practice patterns are evolving
in accordance with an expanding evidence base, there is still room for improvement
and the need for further clinical studies. Table 10.6 lists areas in which future inves-
tigation may be warranted to determine guidelines concerning the type and amount
of equipment placed in the home of the ventilator-dependent child.
Acknowledgments We thank Tammy Hall RRT and Michelle Mantuano RRT for sharing their
expertise in caring for ventilator-dependent children at home.
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Chapter 11
Inhaled Drug Delivery for Children
on Long-term Mechanical Ventilation
Ariel Berlinski
Background
Improvements in neonatal and pediatric intensive care knowledge, skills, and technology
have contributed to the development of a population that relies on technology for their
health maintenance and survival. Many of these patients receive some type of respiratory
support either as invasive or noninvasive ventilation. Most of these patients are prescribed
inhaled therapeutic aerosols for chronic and acute management of their respiratory dis-
ease [1, 2]. To make matters more complex, this population is very heterogeneous mak-
ing “one way fits all” not a viable approach. This population includes patients with
different degrees of ventilator dependence (total vs. partial), patients with or without
tracheostomy, patients with and without intrinsic lung disease, and patients with and
without normal cognitive abilities.
The use of inhaled bronchodilators, corticosteroids, antibiotics, and mucolytics
has been reported in this population [1–11]. Little evidence is available regarding
optimization of aerosol delivery in this population. Several surveys have demon-
strated variability in practice regarding administration of aerosol to patients receiv-
ing mechanical ventilation and with tracheostomies across different centers [1, 12].
Different types of ventilators, ventilation modality, circuits, aerosol generators,
add-on devices, and connectors and their combination are responsible for the sever-
alfold difference in drug delivery that has been found in several studies. For exam-
ple, the same aerosol generator placed in a different position on a ventilator circuit
can result in a severalfold difference in delivered drug. To make matters more com-
plex, the optimization of drug delivery in invasive ventilation is not similar to that
of using noninvasive ventilation. The same patient might start receiving noninvasive
ventilation, then progress to tracheostomy and invasive ventilation or vice versa.
A. Berlinski, M.D. (*)

College of Medicine, Arkansas Children’s Hospital, University of Arkansas for Medical
Sciences, 1 Children’s Way, Slot 512-17, Little Rock, AR 72202, USA
e-mail: berlinskiariel@uams.edu

218 A. Berlinski
This might require changing the type and position of delivery device. Practitioners
need to become proficient on how to optimize aerosol drug delivery under different
clinical situations/device combinations.
In this chapter we will first discuss the basics of aerosol delivery. A description of
the different available delivery devices will follow. Finally the use of aerosols will be
discussed for different clinical scenarios that practitioners frequently encounter in
the management of respiratory technology-dependent children (invasive vs. noninva-
sive ventilation and with either total or partial ventilation dependence).
The use of aerosols in the neonatal age group will not be discussed since the
small size of the artificial airways and the low tidal volumes preclude any extrapola-
tion of results to older children who are receiving chronic mechanical ventilation.
A Brief Primer on Principles of Respiratory Aerosol Delivery
Aerosol deposition is dependent on aerosol-related and patient-related factors [13].

The former include particle size, velocity, hygroscopic properties, type of aerosol
generator, and availability of the drug. Patient-related factors include airway size,
disease state, breathing pattern, and cognitive and physical ability. Additionally,
patients receiving mechanical ventilation incorporate other factors such as type of
ventilator support (noninvasive vs. invasive), endotracheal tube (ETT) size, trache-
ostomy size, bias flow, heated and humidified air, ventilation mode, gas properties,
circuit size, and others (Table 11.1) [14, 15].
Aerosols are characterized by several parameters such as mass median aerody-
namic diameter (MMAD), geometric standard deviation (GSD), and the fine-
particle fraction [13, 16]. The latter is the ratio between the mass of particles <5 μm
and the mass of the emitted dose. The MMAD is a measure of central tendency,
while the GSD is a unitless measure of dispersion. Most medicinal aerosols are
composed of particles of different sizes. When the GSD is greater than 1.22, they
are considered polydispersed. Particles with an MMAD between 1 and 3 μm will be
deposited in the peripheral airways, while particles with an MMAD smaller than
1 μm and especially those with an MMAD smaller than 0.5 μm tend to be exhaled.
Aerosols with an MMAD between 1 and 5 μm are considered more likely to favor
intrapulmonary deposition. However, it is not clear if these principles would apply
to aerosols delivered during invasive mechanical ventilation via an endotracheal
tube or a tracheostomy tube. Aerosols leave the generator at a certain size that
increases by exposure to humidity present in the circuit and decreases through
impaction with the circuit, connectors, and endotracheal tubes. In addition to parti-
cle size, inspiratory flow plays an important role in intrapulmonary drug deposition
with lower flows resulting in larger deposition irrespective of the MMAD [17].
There are three main mechanisms of aerosol deposition in the lungs: impaction,
sedimentation, and diffusion [13]. The latter is the mechanism mostly responsible
for deposition of submicronic aerosols (MMAD < 1 μm). While impaction is respon-
sible for deposition of aerosols traveling at high velocity and those larger than 3 μm,
11 Inhaled Drug Delivery for Children on Long-term Mechanical Ventilation 219
Table 11.1 Factors influencing aerosol drug delivery during mechanical ventilation
Device
Ventilator Circuit MDI Nebulizer Drug Patient
Mode Circuit size Adapter/spacer Type Particle Disease
size state
Tidal ETT size Timing of actuation Position
volume
Duty cycle Humidity Position Mode of
operation
Flow Bias flow Compatibility of
pattern actuator canister
Gas density
Modified from [14]
sedimentation is responsible for slower aerosols and those with an MMAD between
0.5 and 3 μm. An increase in the time the aerosol stays in the airways favors its
deposition via this mechanism and constitutes the basis for the breath-holding
maneuver used when using pressurized metered-dose inhalers and dry powder
inhalers. The presence of artificial airways (ETT and tracheostomies) increases air-
way resistance and airflow turbulence. Therefore, impaction plays a significant role
in deposition in the circuit and artificial airways.
Delivery Devices
There are three main types of aerosol generators: nebulizers, metered-dose inhalers
(pressurized and soft mist), and dry powder inhalers [13, 16].
Nebulizers can be classified into jet, ultrasonic, and vibrating mesh nebulizers.
Jet nebulizers use an external air source to convert a solution or suspension into a
mist [13, 16]. During that process aerosols decrease their temperature by 10 °C [18].
Jet nebulizers can be further classified as continuous-output (aerosol generated and
released during inspiratory and expiratory cycle), breath-enhanced (drug output
increases during inspiration due to incorporation of one-way valve in the nebulizer’s
design), and breath-actuated (drug delivery occurs only during inspiration) nebu-
lizer [13, 16]. The latter requires a threshold flow to open the inspiratory valve and
may not be suitable for use in children especially those with small tidal volumes and
inspiratory flows.
The performance of disposable nebulizers can vary significantly even between
units of the same brand [19]. Their filling volume is optimal between 3 and 4 mL
[20]. The volume that remains in the nebulizer after the treatment is completed
(residual volume) ranges between 0.8 and 1.5 mL [21]. Conversely, vibrating mesh
nebulizers have minimal to no dead volume [22]. They require an external power
source and they are nearly noiseless. Liquid is forced either actively or passively
through a membrane with precision-drilled holes [23]. They produce a low-velocity
220 A. Berlinski
and soft mist that keeps a constant temperature. Proper care of the mesh is crucial to
avoid clogging of the holes. Lastly, ultrasonic nebulizers use an electrical source to
vibrate a piezoelectric crystal at high frequency, which generates sound waves
resulting in the production of an aerosol at the fluid surface [13, 16]. This technol-
ogy heats the fluid up to 15 °C during nebulization and could potentially denature
proteins [22]. The device has been also found to be inefficient to deliver budesonide
due to the large size of the particles [24].
In addition to the complexity of aerosol delivery via nebulizers, its used attached
ventilator circuits and tracheostomies introduce another set of problems that will be
discussed later in the chapter. Nebulizers are connected to either T-pieces or spring-
loaded T-pieces when used in tracheostomized patients and when placed in ventila-
tor circuits. Additionally, some practitioners use a resuscitation bag to assist drug
delivery when connected to either a tracheostomy or an ETT [1].
Pressurized metered-dose inhalers (pMDI) have a drug in suspension/solution
mixed with a propellant. Currently, almost all pMDIs in the United States contain
hydrofluoroalkanes (HFA) as propellant. These inhalers require specific care to
properly function [13, 16]. Lack of proper care leads to the blockage of the actua-
tor’s nozzle. Unfortunately, each brand has specific instructions for initial and repeat
priming as well as cleaning of the plastic booth. The canisters of medications con-
taining HFA can’t be submerged in water because it can cause obstruction of the
metering valve. In addition, some brands changed the canister configuration to
accommodate the presence of a dose counter [16]. Pressurized MDIs are used in
combination with either holding chambers, spacers, or adapters when they are used
in tracheostomized patients and when placed in ventilator circuits [1, 14, 15].
Additionally, some practitioners use a resuscitation bag to assist drug delivery when
connected to either tracheostomy or an ETT [1]. This could be detrimental to aero-
sol delivery due to increased aerosol impaction caused by the generated high flows.
Recently, a soft metered-dose inhaler containing a combination of albuterol and
ipratropium bromide was released in the United States. The device utilizes the
mechanical energy provided by a spring to force a propellant-free solution through
a very small nozzle generating a slow mist [25]. The development of an adapter for
its use in an adult-type mechanical ventilation circuit has been reported [26].
Currently available dry powder inhalers (DPI) are breath-actuated devices that
use the patient’s inspiratory flow to disaggregate the drug [13, 16]. A clinical study
in adults and an in vitro study using an adult model demonstrated the feasibility of
delivering drug through tracheostomies and ETTs with this type of delivery device
[27–29]. However, a recent survey reported its lack of use in pediatric population
[1]. The need for large inhalation flows to disaggregate the powder does not make
them a suitable alternative for drug delivery in children. In addition, the perfor-
mance of these devices is adversely affected by humidity [30].
One of the major challenges in developing evidence-based recommendations for
aerosol delivery in pediatric patients receiving invasive and noninvasive mechanical
ventilation is the scarcity of clinical data due to the ethical considerations of use of radio-
labeled aerosols and sequential blood draws in that age group [31]. In addition, age- and
size-related changes in anatomy and physiology make matters more difficult. Few data
are available with small- and medium-size animals [32–35]. Researchers have devel-
oped in vitro models to investigate the behavior of aerosols under different conditions.
A good correlation between in vivo and in vitro data has been established [36–38].
Based on the type of ventilation and tolerance to being disconnected from it, the
following clinical scenarios are possible: (1) patients receiving invasive mechanical
ventilation who do not tolerate being disconnected from the ventilator, (2) patients
receiving invasive mechanical ventilation who tolerate being disconnected from the
ventilator, (3) patients who are tracheostomized and breath spontaneously, (4)
patients receiving noninvasive mechanical ventilation who do not tolerate being
disconnected from the ventilator, and (5) patients receiving noninvasive mechanical
ventilation who tolerate being disconnected from the ventilator. Each of these sce-
narios presents unique challenges for effective aerosol delivery and will be dis-
cussed individually.
Patients Receiving Mechanical Ventilation Who Do Not

Tolerate Being Disconnected from the Ventilator
Patients who are unable to be disconnected from the ventilator to receive inhaled
therapy will have adaptor and connectors that will allow the aerosol to be generated
and transported through the circuit (in-line therapy). Filters should be placed
between the ventilator and the tubing that connects to the humidifier and between
the expiratory limb of the circuit and the ventilator to prevent damage of the ventila-
tor components by the aerosols (Figs. 11.1 and 11.5). The use of heated wired cir-
cuits further limits the potential placement of aerosol delivery devices.
Metered-Dose Inhalers
The pMDIs are generally placed between the Y-piece and the ETT or in the inspira-
tory limb just before the Y-piece (Fig. 11.1) [14]. Placing the pMDI after the Y-piece
is less efficient and requires breaking the integrity of the circuit potentially causing
lung de-recruitment and increasing the risk of ventilator-associated pneumonia [30].
This configuration also increases dead space. The pMDIs are connected to either
adapters or spacers (Fig. 11.2) [14]. Spacers can be either rigid or collapsible and
some offer the advantage that when not in use, they lead to minimal rain out
(Fig. 11.2a–c). Adapters are small plastic connectors that serve as actuators of the
pMDIs and are very inefficient and their use should be discouraged (Fig. 11.2d)
[39–41]. In an ex vivo study using a porcine model of mechanical ventilation, a
fourfold difference in drug delivery between the adapter and the spacer was recently
reported [35]. A disadvantage of using in-line pMDIs is that the canister of aerosol
is removed from its manufacturer designed actuator and placed in a generic actuator.
222 A. Berlinski
Fig. 11.1 Ventilator setup with different positions where adapters/spacer/holding chambers for
pMDIs can be placed
Fig. 11.2 Examples of adapters and rigid and collapsible spacers used for in-line administration
on pMDIs. (a) Small-volume chamber made of antistatic material that accepts different canisters
(with and without counters). (b) Rigid spacer. (c) Collapsible spacer (expanded and collapsed).
(d) Adapter
Fig. 11.3 Example of a pMDIs with incorporated counters requiring special adapters. (a) Canister
with incorporated counter and plastic actuator of the pMDI together and disassembled.
(b) Chamber with the pMDI’s canister placed in it
Poor compatibility between the stem of the canister and the spacer/adapter actuator
can reduce aerosol output [36–43]. The development of new pMDIs formulated
with HFA and the incorporation of counters to the canister have aggravated this
problem (Fig. 11.3). The material used to build the spacer is one more variable that
needs to be considered. Similar to what is described for spontaneously breathing
patients, spacers made of non-electrostatic material are more efficient than the oth-
ers [13, 14].
The timing of actuation is critical and failure to actuate the pMDI during inspira-
tion reduces albuterol delivery by at least 35 % (Fig. 11.4) [44]. The reduction is
even more dramatic when an adaptor is used (86 %).
The presence of humidity in the ventilator circuit decreases albuterol delivery
between 30 and 60 % due to hygroscopic growth of the aerosol particles and
increased impaction (Fig. 11.4) [40, 45]. In addition, the use of helium-oxygen
combination instead of nitrogen-oxygen combination in a pediatric ventilator
in vitro model (tidal volume 200 mL, rr = 25, and I:E 1:2.6) resulted in a 65 %
increase in albuterol delivery from an pMDI/spacer placed between the ETT and the
Y-piece (Fig. 11.4) [46, 47]. This increment was seen in models that had either
humidified or non-humidified circuits, and it is due to a decrease in turbulence of the
air in the circuit leading to a decrease in aerosol impaction.
The size of the ETT also plays a significant role in limiting aerosol delivery.
A decrease from a 6 to a 4-mm internal diameter tube reduced albuterol delivery
between 40 and 60 % (Fig. 11.4) [40, 45]. This effect is even more pronounced with
smaller-size ETTs [49].
224 A. Berlinski
Fig. 11.4 Effect of several variables on drug delivery with pMDIs and nebulizers in pediatric
ventilator circuits. From references [40, 42, 44–48]
The size of the aerosol is also an important factor determining aerosol delivery.
In an in vitro study using a ventilator model, a beclomethasone aerosol with an
MMAD of 1.2 μm resulted in significantly higher delivery than a formulation with
an MMAD of 4.5 μm [50, 51]. This is consistent with Taylor et al. who reported that
the MMAD of albuterol pMDI aerosol measured at the tip of an ETT with a 6-mm
internal diameter was 1.1 μm [52]. The endotracheal tube acts as a filter letting the
small particles go through, while the large particles impact against the walls. One
could speculate that the use of a pMDI with small MMAD might be more appropri-
ate for drug delivery through endotracheal tubes.
Although no pediatric data are available, adult studies suggest that neither flow
patterns (decelerating vs. square wave), ventilator mode, nor end expiratory pause
significantly affects drug delivery and clinical response [53–55].
Nebulizers
The position of nebulizers in the ventilator circuit also significantly affects albuterol
delivery. Placement at the Y-piece or 30 cm before is significantly less efficient than
placement on either the dry or wet side of the humidifier irrespective of the type of
nebulizer used (Fig. 11.5) [56].
The choice of type of aerosol generator also significantly affects albuterol
delivery (Fig. 11.6). Differences in albuterol delivery range from four- to tenfold
Fig. 11.5 Ventilator setup with different positions where nebulizer can be placed
depending on the location where different devices were placed [56–58]. Vibrating
mesh and ultrasonic nebulizers are more efficient than jet nebulizers, but the latter
are more efficient than the intrapulmonary percussive ventilator (IPV) [56–58].
This device is a modified ventilator that delivers a burst of air at high frequencies
(100–300 Hz) and is used to aid with mobilization of airway secretions [57].
Goldstein et al. reported efficient delivery and bactericidal activity of inhaled ami-
kacin delivered with an ultrasonic nebulizer placed in the inspiratory limb 40 cm
before the Y-piece in a porcine model (21 kg) [33]. Ferrari et al. using the same
model reported that the same nebulizer/placement yielded delivery of inhaled ceftazi-
dime equivalent to a vibrating mesh nebulizer placed 15 cm from the Y-piece [34].
In contrast to findings reported in adult ventilator models, increasing the duty
cycle (percentage of time spent delivering positive inspiratory pressure by the ven-
tilator) does not enhance aerosol delivery with nebulizers during mechanical venti-
lation in pediatric models [40, 59].
Although once thought to be an effective modality to enhance aerosol delivery,
increasing the tidal volume has been later shown not to be applicable to pediatrics.
Both clinical studies in adults and pediatric in vitro studies agree on this subject [57,
58]. An in vitro study reported no increase in drug delivery after increasing tidal
volume from 100 to 200 mL with a resulting increase in minute ventilation [57]. A
follow-up study expanded these findings to the 100–300 mL range with similar
results [unpublished data Berlinski et al.].
The mode of operation of the nebulizer (continuous vs. intermittent) could also
influence drug delivery during mechanical ventilation in pediatric ventilator mod-
els. However, the currently available data are conflicting [39, 48, 60].
226 A. Berlinski
Fig. 11.6 Examples of nebulizers used for in-line administration of inhaled aerosols. (a) Continuous-
output nebulizer attached to a spring-loaded T-piece. (b) Ultrasonic nebulizer. (c) Disposable single
patient use vibrating mesh nebulizer placed on its adapter
The effect of bias flow (2–5 L/min) on aerosol delivery in pediatric circuits is not
significant when low-flow jet nebulizers (2 L/min) and vibrating mesh nebulizers
are used [58]. However, the use of higher nebulizer flows combined with high bias
flow could be detrimental. The increase in flow used to power the nebulizer results
in a decrease in albuterol delivery [39, 61]. Moreover, the flow interferes with the
functioning of the ventilation and requires adjustment of the settings (i.e., decreas-
ing tidal volume to avoid barotrauma) [62, 63]. Some nebulizers are powered by the
ventilator and inadequate flow has been documented in several instances [64].
Therefore, either low-flow jet nebulizer or vibrating mesh nebulizers are preferred
for patients unable to be disconnected from invasive ventilator support.
The size of the ETT also plays a significant role in limiting drug delivered by
nebulizers. Reducing the ETT internal diameter size from 6 to 3 mm resulted in a
reduction of 60 % in aerosol delivery (Fig. 11.4) [48].
Aerosols with larger MMAD suffer impaction against the tube walls that leads to
a reduction of particle size. Ahrens et al. reported a decrease in aerosol MMAD
from 3.4 μm at the exit of the jet nebulizer to 0.42–1.20 μm at the tip of the ETT
[61]. These data are in agreement with similar decrease in MMAD for both jet and
vibrating mesh nebulizers found by Berlinski and Kesser (unpublished data).
However, when submicronic aerosols are used, no change in MMAD is noted [61].
The use of a heated/humidified circuit reduces aerosol delivery by 60 %
(Fig. 11.4) [42].
Very few human studies comparing devices in pediatric population are available.
Garner et al. found similar clinical effects and serum albuterol concentrations when
pediatric ventilated patients received the drug via pMDI with spacer placed between
the Y-piece and the ETT and a nebulizer placed in the inspiratory circuit 10 to 20 cm
before the Y-piece [65].
In summary, aerosol delivery in children receiving mechanical ventilation who
do not tolerate being disconnected from the ventilator can be optimized by placing
the nebulizer between the ventilator and the humidifier and using low bias flows.
Vibrating mesh nebulizers are more effective and expensive than jet nebulizers, but
if chronic therapy is required, the cost per treatment might be similar [56]. If pMDIs
are used, they should be actuated at the beginning of the inhalation and a holding
chamber should be used instead of an adapter.
Patients Receiving Invasive Mechanical Ventilation Who

Tolerate Being Disconnected From the Ventilator
and Tracheostomized Patients Who Breathe Spontaneously
Limited guidance is available regarding optimization of aerosol delivery in this

population. Most of the available information is derived from in vitro studies [32,
66–72]. A recent survey revealed a wide variation in practice patterns in aerosol
delivery in that population [1]. Of note, some of the reported practices have been
found to reduce delivery efficiency. One study compared aerosolization versus
instillation of 40 mg of gentamicin solution through the tracheostomy in pediatric
patients [6]. They found a 28-fold higher blood concentration and a 24-fold higher
sputum concentration when the instillation modality was used.
Although no pediatric data are available, adult data comparing drug delivery
between ETTs and tracheostomy tubes show that the latter delivers 50 % more drug
than the former [66].
228 A. Berlinski
Metered-Dose Inhaler
Several factors have been reported to affect aerosol delivery with pMDIs to children
with tracheostomies (Table 11.2). Similar to what has been reported in invasive
mechanical ventilation, there is an inverse correlation between artificial airway size
and drug delivery [52]. Breathing patterns with larger tidal volumes result in higher
drug deposition as it is seen in models of spontaneously breathing children [70]. In
agreement with adult-type ventilator studies, a relatively low percentage of drug
(7.4 % of nominal dose) is deposited in the tracheostomy tube [59, 67].
Berlinski et al. reported that the use of a self-inflating resuscitation bag (assisted
technique) negatively influenced drug delivery resulting in decrease of delivery
ranging from 18 to 54 % (Fig. 11.7) [67]. These findings were confirmed in a fol-
low-up study [68]. Others reported enhancement of delivery in infants with small
ETTs and low tidal volumes (<60 mL) [51, 73]. However, these findings are in
contrast of small animal data [32]. Piccuito et al. in an adult-type tracheostomy
model found that the addition of either dry, heated, or heated-humid high gas flow
(30 L/min) resulted in a 65 % reduction in aerosol delivery [69].
Adapters were found to be very inefficient delivery devices with a reported nine-
fold difference when compared to best performers [67]. A small-volume holding
chamber made of antistatic material was the most efficient delivery device for all
tracheostomy sizes (3.5, 4.5, and 5.5 mm internal diameter) and breathing patterns
(tidal volume 80 mL, 155 mL, and 310 mL) [67]. This small-volume holding cham-
ber does not require removal of the canister from the plastic actuator (Fig. 11.7).
Nebulizers
Several factors have been reported to affect aerosol delivery with nebulizers to chil-
dren with tracheostomies (Table 11.2). In general, they deliver a low amount of drug
beyond the tip of the tracheostomy [71].
Table 11.2 Factors affecting aerosol delivery through tracheostomiesa

Metered-dose inhalers Nebulizers
Adapter/spacer [67] Nebulizer type [71, 72]
Tracheostomy size [67] Tracheostomy size [71, 72]
Breathing pattern [67] Breathing pattern [71]
Assisted breathing (−) [67, 68] Assisted breathing (+) [66, 71]
Bias flow [69] Interface [66, 71, 72]
Bias flow [69]
a
From references [66–69, 71, 72]
Fig. 11.7 Examples of adapters/spacers and holding chambers used with pMDIs and tracheosto-
mies. (a) Plastic spacer. (b) Holding chamber made of non-electrostatic material that does not
require removal of the canister from the plastic booth. (c) Small-volume chamber made of non-
electrostatic material. (d) Self-inflating resuscitation bag used for assisted technique with (a) and
(c). The bag is connected by adapter placed near the canister
Both pediatric and adult-type studies agree that a T-piece is a more efficient
interface than a tracheostomy mask with reported differences ranging from 15 to
50 % (Fig. 11.8) [66, 69, 71].
The addition of either dry, heated, or heated-humid high gas flow (30 L/min)
resulted in a three- to fivefold and three- to ninefold reduction in aerosol delivery
when a T-piece and a tracheostomy mask were used, respectively [69]. This pro-
vides the basis for discouraging the use of in-line administration of aerosols in
patients receiving humidification for their tracheostomy with a tracheal collar.
Similar to reports of aerosol delivery in invasive ventilation, the choice of device
significantly affects the amount of aerosol that is delivered to the airways [71, 72].
In a pediatric in vitro model, a breath-enhanced nebulizer had higher delivery than
a continuously operated and a breath-actuated nebulizer [71]. The latter had mini-
mal delivery with breathing patterns with low tidal volume. Conversely, Pitance
et al. in an in vitro model of an adult (internal diameter 6.5 mm) reported that a
continuously operated nebulizer with an extension tube was slightly more efficient
than a breath-assisted nebulizer [72]. The use of an extension tube coupled with the
nebulizer resulted in an improvement in aerosol delivery between 12 and 22 %
(Fig. 11.8) [72]. This phenomenon was more important in an adult model (53 %)
possibly due to the larger tidal volume [72].
230 A. Berlinski
Fig. 11.8 Examples of nebulizers and interfaces used to deliver aerosols through tracheostomies
In contrast to findings reported with pMDIs, the use of assisted technique to

deliver aerosols in tracheostomy models results in increased delivery (Fig. 11.8)
[66–68, 71]. Moreover, the use of assisted technique with every other breath with
the continuously operated nebulizer with an extension tube measured up to the
breath-enhanced nebulizer’s performance [71]. Every other breath-assisted delivery
was found to be more efficient than assistance with every breath due to a possible
reservoir effect generated with the former during the non-assisted breath [71]. The
use of the assisted technique with every other breath resulted in a more proximal
aerosol deposition [71]. This feature can be used to target the large airways during
an episode of tracheitis. The differential behavior between MDIs and nebulizers
regarding the effect of assistance on drug delivery could be explained in part by the
continuous nature of the delivery that the latter provides.
Breathing pattern and tracheostomy size both influence drug delivery [71]. The
former had a more important effect than the latter.
If assisted technique is used, it is recommended that a filter be placed after the
resuscitation bag to avoid retrograde penetration of aerosols. This is critical with the
administration of inhaled antibiotics.
Similar to what has been reported for aerosol delivery through ETTs, the passage
of the aerosol through a tracheostomy tube significantly alters its size [48]. One
study reported a 67 and 57 % reduction in MMAD after aerosols traveled through a
tracheostomy tubes with internal diameter of 3.5 mm and 5.5 mm, respectively [71].
The final aerosols had an MMAD ranging from 1.22 to 1.77 μm with less than 1 %
of the drug deposited in the tracheostomy tube [71].
The equivalence between pMDIs and nebulizers can be calculated from the data
previously discussed. In an adult study (internal diameter 8 mm), Piccuito et al. reported
that four puffs of albuterol led to 25 % of the drug deposited by a nebulizer (2.5 mg/3 mL
loading dose) [71]. Berlinski et al. in a pediatric study (internal diameter 3.5 and
5.5 mm) found that two to three puffs delivered with a non-electrostatic holding cham-
ber were equivalent to 2.5 mg/3 mL nebulized albuterol solution [67, 71].
In summary, aerosol delivery in children receiving mechanical ventilation who
tolerate being disconnected from the ventilator can be optimized by either deliver-
ing drugs via pMDI using a holding chamber made of antistatic material and
designed to be used with tracheostomies or using a jet nebulizer that connects
through a T-piece to the tracheostomy and to an extension tube connected to a self-
inflating resuscitation bag. The use of bias flow should be avoided. Practitioners
need to be aware that tracheal instillation provides significantly higher doses than
nebulized therapy.
Patient Receiving Noninvasive Mechanical Ventilation Who

Do Not Tolerate Being Disconnected from the Ventilator
The current strategies used to optimize aerosol to patients receiving noninvasive

mechanical ventilation who cannot tolerate being disconnected from the ventilator
are mostly derived from in vitro data utilizing adult-type models [74–80].
A face mask with a good seal is important for optimization of aerosol delivery.
Nasal masks are expected to be less efficient than oronasal masks due to loss of aero-
sol through the mouth and the fact that the aerosol goes through the nasal filter [81].
All data on aerosol delivery during noninvasive ventilation was obtained from in vivo
and in vitro studies using a bi-level device with single limb circuit [74–80, 82–88].
These circuits incorporate either an exhalation port/leak or valve that can be located
either in the circuit or at the mask. More recently, both home and hospital ventilators
have noninvasive ventilation settings and use a double limb circuit with the Y-piece con-
nected with a swivel valve to the mask. This is a setup similar to invasive mechanical
ventilation except that a non-vented mask is placed where the ETT would have been
placed. No data regarding aerosol delivery for that setup are currently available.
Metered-Dose Inhaler
The data on pMDI shows that timing of the actuation is as crucial as it is in invasive
mechanical ventilation. A 50 % reduction in aerosol delivery results from actuation of
the pMDI during expiration [74]. The same authors found similar albuterol delivery
when the exhalation port/leak was at the mask or in the single limb circuit before the
spacer and pMDI and the aerosol are actuated at the beginning of inhalation (Fig. 11.9).
232 A. Berlinski
Fig. 11.9 Ventilator setup with single limb circuit for noninvasive ventilation with different posi-
tions where pMDIs and nebulizers can be placed and where leakage is found
Nebulizer
Calvert et al. reported that placing a jet nebulizer at the bi-level ventilator results in
a 50–60 % reduction in aerosol delivery when compared to placement between the
expiration port and the mask and between the expiration port and the ventilator
(Fig. 11.9) [75]. These findings contradict those of Chatmongkolchart et al. who
reported that placement at the ventilator was more efficient than placing it between
the mask and the exhalation port [76]. In contrast to Calvert et al. who reported that
aerosol output was larger if the jet nebulizer was right after the exhalation (away
from the facemask), Abdelrahim et al. found the opposite (Fig. 11.9) [75, 77]. The
difference in findings could be partially explained by the fact that Abdelrahim et al.
placed the nebulizer closer to the leak port. In addition they tested both jet and
vibrating mesh nebulizers and found that the vibrating mesh nebulizer delivered at
least twice as much drug as the jet nebulizer [77]. In another study the amount of
aerosol delivered by a jet nebulizer decreased by 56 % when the position of the leak
was changed from the circuit (before the nebulizer) to the mask [74]. White et al.
using a pediatric in vitro model reported that a single use disposable vibrating mesh
nebulizer was more efficient when placed near the face mask than when placed
between the bi-level ventilator and the humidifier [78]. The authors used a single
limb circuit with a leak placed at the face mask. These authors also reported that a
vibrating mesh nebulizer purposely designed to be placed in the mask was more
efficient than the others [78].
The type of exhalation valve used also plays a role in determining the optimal
position of the nebulizer [79]. In an adult in vitro model, Dai et al. compared drug
delivery from a jet nebulizer during bi-level ventilation at different pressures, with
different exhalation valves and two different positions [79]. The plateau valve pro-
vides a constant air leak, while the single arch and the whisper swivel increase their
leak with higher pressures. The whisper swivel has a larger leak than the single arch.
The authors reported that when a jet nebulizer was placed between the exhalation
port and the patient, the single arch provided the largest and the swivel provided the
lowest drug delivery. However, when the nebulizer was placed proximal to the ven-
tilator, the single arch valve had the lowest drug delivery. The authors also reported
that while higher inspiratory positive airway pressure increased aerosol delivery, the
effect of expiratory positive airway pressure was not clear.
More recently, Michotte el al. compared the inhaled dose of three different vibrat-
ing mesh nebulizers, a jet nebulizer, and an ultrasonic nebulizer. The devices were
placed between the ventilator and the leak on the circuit and between the leak and the
mask [80]. They found that moving the ultrasonic and vibrating mesh nebulizers
closer to ventilator decreased the inhaled mass 3.8-fold and the jet nebulizer 1.3-fold.
However, the vibrating mesh nebulizers delivered an average of 3.5-fold more drug
than the jet nebulizer. The delivery efficiency averaged 43, 12, and 12 % for the vibrat-
ing mesh, jet, and ultrasonic nebulizers, respectively, when the devices were placed
between the leak and the mask.
The optimal position showed a delivery efficiency of ranging from 9.6 to 28.2 %
for the jet nebulizer and 51 % for the vibrating mesh nebulizer [74–80].
Calvert el at. reported that operating a nebulizer into a bi-level ventilator circuit results
in a 29 % reduction of its particle size from an MMAD of 3.12–2.21 μm [75]. The high
flows present in the circuit could generate aerosol impaction against the circuit walls [82].
The effect of the differential pressure (inspiratory–expiratory positive airway
pressure) is quite complex and is affected by both placement of the nebulizer and
respiratory rate [76]. The data that falls within pediatric range (tidal volume 300 mL)
shows that a faster rate (20 vs. 10 bpm) and a larger differential pressure deliver
more aerosol. This could be explained by the increase of the minute ventilation. At
lower rates the proximal position is more efficient and at higher rates placement at
the ventilator makes it more efficient.
Parkes et al. reported an 81 % decrease in aerosol delivery by a jet nebulizer
when a CPAP system with a face mask was used compared to the nebulizer alone
[82]. They also reported a similar bronchodilator response despite the decrease in
intrapulmonary deposition. In an in vitro/in vivo study, Fauroux et al. demonstrated
that in children with cystic fibrosis, a 30 % increase in aerosol deposition occurred
when the delivery device was coupled to a pressure support system [83]. Conversely,
Franca et al. in a study of healthy young adults found that delivering aerosol using
a bi-level ventilation system (12/4) reduced aerosol deposition when compared to
spontaneous breathing [84]. This was most likely due to the high flows that the bi-
level ventilator generates. Reychler et al. had similar findings in a study comparing
lung deposition (measured as urinary excretion) between nebulizer alone and a
CPAP system (threefold difference) [85]. Brandao et al. reported a significantly
234 A. Berlinski
higher improvement in asthmatic subjects inhaling aerosols into a bi-level ventilation

system compared to nebulizer alone [86]. Abdelrahim et al. reported that systemic
bioavailability of terbutaline was equivalent between a disposable vibrating mesh
nebulizer (2 mg) and a breath-enhanced nebulizer (5 mg) when aerosols were deliv-
ered during bi-level ventilation [87]. More recently, Galindo-Filho et al. demon-
strated that in asthmatic adult subjects experiencing an exacerbation, the delivery of
aerosol in conjunction with noninvasive ventilation did not change intrapulmonary
deposition despite achieving significant improvement in physiologic and spiromet-
ric outcomes compared to a control group receiving nebulization alone [88].
In summary, aerosol delivery in children receiving noninvasive mechanical ven-
tilation who do not tolerate being disconnected from the ventilator can be optimized
by coordinating pMDI actuation with the beginning of the inhalation, placing the
nebulizer between the leak at the circuit and the face mask and by using vibrating
mesh nebulizer. The in vivo data suggest a decrease in intrapulmonary deposition,
although the net effect during acute bronchial obstruction might be beneficial.
Patients Receiving Noninvasive Mechanical Ventilation Who

Tolerate Being Disconnected from the Ventilator
This subpopulation needs to be treated like other spontaneously breathing children

[13]. In general, delivering aerosols with the patient disconnected from the ventila-
tor is more efficient and less complicated. We prefer the used use of MDIs with
holding chambers made of non-electrostatic material that do not require removal of
the canister from the actuator. When a mask is needed, it should be soft and should
provide minimum leak and dead space and should also provide feedback regarding
inspiratory flow and proper seal [88]. Cognitive abilities and acceptance of the inter-
face are more important factors in this subgroup.
Clinical Key Points
Like in real estate, in aerosol delivery during invasive and noninvasive ventilation,
location of the device is paramount of value.
The choice of delivery device could represent a severalfold difference in drug deliv-
ery. Cost and availability should be considered when deciding which system to use.
Delivering aerosols with the patient disconnected from the ventilator is generally
more efficient.
Assisted breathing is effective if nebulizers are used but not when MDIs are utilized.
The internal diameter of ETTs and tracheostomy tubes significantly affect the
amount and the aerosol characteristics of the aerosol that exits their tips.
It is important to remember that proper instruction in the use of the chosen
delivery devices is crucial. If the clinical scenario varies such as when a patient is
decannulated, re-instruction of the delivery technique needs to be provided and

should include cleaning and disinfection.
Summary
Aerosol delivery to children receiving chronic mechanical ventilation depends on

multiple factors. Practitioner’s knowledge of the variables that affect drug delivery
are essential. The type of ventilator support and the tolerance of the child whom it
should be removed from determine what delivery device/technique should be used.
More clinical studies are necessary to improve our knowledge regarding optimiza-
tion of aerosol delivery during mechanical ventilation in children.
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Chapter 12
Adherence to Non-Invasive Ventilatory Support
Gillian M. Nixon
Introduction
Noninvasive respiratory support, including continuous positive airway pressure

(CPAP) and bi-level noninvasive ventilation (NIV), is an important treatment option
for children with sleep-disordered breathing. CPAP provides a continuous flow of
air and is used to splint the upper airway in children with airway obstruction during
sleep. Noninvasive ventilation usually refers to pressure-cycled ventilation, with or
without volume-assured pressure support, and is used in cases of sleep-related
hypoventilation. Both are delivered via an external interface (usually nasal mask or
cannula or nasal-oral mask). Adherence to NIV in children has received virtually no
attention in the medical literature. Where such evidence exists, it will be outlined in
this review, but otherwise discussion is by necessity limited to CPAP. It is by no
means assured however that the same findings would be found for NIV as for CPAP,
and further studies are desperately needed in this area.
Obstructive Sleep Apnea and Continuous Positive Airway

Pressure
Most children with obstructive sleep apnea (OSA) are treated with adenotonsillec-
tomy [1]. However, a significant proportion of children have persisting OSA post-
operatively, especially those who are obese [2, 3]. These children, plus those in
G.M. Nixon (*)

The Ritchie Centre, Department of Paediatrics and The Hudson Institute of Medical
Research, Monash University, Melbourne, VIC, Australia
Melbourne Children’s Sleep Centre, Monash Children’s Hospital, Melbourne, VIC, Australia
e-mail: gillian.nixon@monashhealth.org

242 G.M. Nixon
Table 12.1 Summary of key aspects of reports of pediatric CPAP adherence

Mean hours of use/night
(number of patients
Study Country N Obesity (%) NDD (%) with data)
Waters KA et al. Am J Australia 80 8 NA NA
Resp Crit Care Med
1995 [11]
Marcus CL et al. J Multi 94 18 27 NA
Pediatr 1995 [4]
Massa F et al. Arch Dis UK 66 6 20 NA
Child 2002 [7]
O’Donnell A et al. Sleep Canada 79 15a 56a 4.7 (n = 50)
2006 [9]
Marcus CL et al. USA 29 66 3b 5.3 (n = 21)
Pediatrics 2006 [6]
Uong EC et al. Pediatrics USA 46 67 35 7.0c (n = 27)
2007 [10]
Nixon GM et al. J Australia 32 6 50 4.7 (n = 30)
Pediatr 2011 [8]
Marcus CL et al. Am J USA 52 69 19 2.8e (n = 52)
Resp Crit Care Med
2012 [5]d
a
Details presented for 66 of 79 patients in the cohort studied
b
Patients with Down syndrome excluded
c
Only data from those using CPAP >4 h sleep available for analysis/night included
d
Data from the same cohort is presented in two other publications [12, 13]
e
Subjects who did not return for follow-up included with adherence of 0 h/night
whom upper airway obstruction is attributable to factors other than adenotonsillar

hypertrophy (e.g., those with craniofacial disorders, neuromuscular disorders, or
Down syndrome), form the majority of children who are prescribed continuous
positive airway pressure (CPAP). They are spread throughout the pediatric age
range, with the number on CPAP roughly distributed into equal thirds: 0–5 years,
6–12 years, and 13–19 years [4]. The range of patients included in studies of pedi-
atric CPAP adherence highlight the heterogeneity of the populations treated, both
within each center and between centers. For example, the proportion of children
with significant neurodevelopmental disability such as Down syndrome or cerebral
palsy ranges from 18 to 67 % and the proportion with obesity from 6 to 69 % [4–11]
(Table 12.1).
Over time, CPAP has become a more commonly used therapy in pediatric prac-
tice [14]. This is likely to be due at least in part to the increasing number of children
with obesity worldwide. In addition, there have been improvements in equipment,
with a wider range of mask interfaces to fit children and an increasing recognition
of the effectiveness of this treatment in young children who might otherwise be
candidates for tracheostomy [15].
12 Adherence to Non-Invasive Ventilatory Support 243
Noninvasive Ventilation
The majority of children prescribed NIV have sleep-related respiratory failure related to
restrictive lung disease (e.g., neuromuscular disease, thoracic dystrophy), central
hypoventilation (e.g., congenital central hypoventilation syndrome), or end-stage pulmo-
nary disease (e.g., cystic fibrosis). NIV augments alveolar ventilation, thereby treating
sleep-related hypoventilation. Similar to CPAP, the use of this therapy is increasing [14].
The Importance of Knowledge About Adherence to Respiratory

Support
In a meta-analysis of studies of the relationship between adherence to medical treat-

ment and treatment outcome in adults, DiMatteo et al. report that adherence (com-
pared with nonadherence) reduces the risk for a null or poor treatment outcome by
26 %, and the odds of a good outcome if the patient is adherent are almost three times
higher than the odds of a good outcome if the patient is nonadherent [16]. In adults at
least, this relationship between adherence and outcome is especially strong for sleep
apnea compared to other medical conditions such as cancer and heart disease [16].
Thus, a significant influencing factor on the success of the treatment in modify-
ing the consequences of the disease lies in the patient’s ability to actually use the
therapy as prescribed. Many potential barriers to use have been identified and are
outlined below [17]. The use of the therapy may itself pose an additional burden to
the child and family on top of the child’s underlying condition, particularly in chil-
dren with major comorbidity. While prescription of noninvasive respiratory support
by a consulting physician takes little time, preparation and education of the family
and choice of appropriate interfaces and treatment settings require considerable
time and expertise. If the extent to which the child uses the treatment is not known,
then measures to improve adherence and consequently improve medical outcomes
are not likely to be instituted. It is therefore crucially important that individuals
prescribed such therapy are closely followed clinically and their adherence moni-
tored objectively. At the present time, we have limited data in children regarding the
extent to which hours of use are related to benefit, such as improved concentration
or daytime sleepiness. One would anticipate however that very poor adherence is
unlikely to be of substantial clinical benefit.
Principles of Adherence in Children and Adolescents
Nonadherence occurs for a variety of reasons including doubt about the expected
benefits and efficacy of treatment, real or perceived barriers including side effects
and financial constraints, unique demands of the regimen itself, and lack of help and
support from family members [16]. Adherence to ventilatory support in children and
244 G.M. Nixon
adolescents is clearly mediated by the role of the parents and caregivers, particularly
in young children. Whereas studies in adults with OSA have found associations
between personality types and poor adherence [18] and demonstrated the usefulness
of cognitive behavioral therapy in improving adherence [19], the role of the parent
needs to be taken into account when applying these findings to pediatric populations.
Adherence to CPAP in Children
A number of studies over the last decade have detailed adherence to CPAP in children
[5, 6, 8–10, 12, 17]. Key features of these studies are outlined in Table 12.1. Mean
hours of CPAP use per night varied from 3 [5, 12, 17] to 7 or 8 [10, 20], with several
studies reporting around 5 h/night [6, 8, 9]. Some of this variability is related to the
way data for inclusion was selected, with one study with the highest usage being con-
founded by only including children with usage over 4 h/night [10] and one of those
with the lowest hours of use including a zero value for children who did not return for
follow-up [5]. While these results are also comparable with adult studies, they fall
well short of ideal when it is considered that children sleep longer than adults. Given
that children sleep 9–12 h per night depending on age, the proportion of the sleep
period spent using the therapy may be a much better way of judging adherence, espe-
cially when assessing the response to treatment in terms of daytime functioning.
The definition of any CPAP use on a given night also varies. Two pediatric studies
have used a threshold of 1 h per night to define CPAP use on that night [8, 9]. This
seems clinically reasonable given that young children may struggle as their parents
attempt to apply CPAP, cry and try to remove the mask, or place the mask on their face
with the machine running for a few moments without putting the headgear on, none of
which could be construed as true therapeutic use during sleep that might confer clini-
cal benefit. It is reasonable to assume that 1 h of CPAP at effective pressure is likely
to include some time asleep, at least in younger children, although such a short period
is unlikely to be of clinical benefit. Regular viewing of downloaded objective usage
data for individual nights may therefore be helpful in assessing attempts to use CPAP
and teasing out factors that may be interfering with good adherence [21].
Different definitions of good adherence clearly lead to different proportions of
patient groups being classified as adherent. If good adherence is defined as at least
1 h per night on more than 50 % of nights, about three-quarters of children demon-
strate good adherence [8, 9]. However, if more than 3 h sleep available for analysis/
night are used as the threshold, only a third of children meet that benchmark [6, 8].
Functional Correlates of Adherence to CPAP
The definition of good adherence with CPAP in adults is usually quoted as 4 or more
hours of use per night. This threshold was supported by a study in 2007 which found
that most adults with severe sleep apnea showed normalization of their subjective
sleepiness (Epworth Sleepiness Scale) at 4 h/night of CPAP use [22]. However that
study and several since have shown that more hours of use above that threshold equate
to improved outcomes on other measures. For example, cognitive function, specifically
memory and executive functioning, appears to be best if use is >6 h/night [23, 24].
Three studies have reported on the relationship between daytime functioning and
CPAP use in children [5, 6, 25]. One divided the 13 adolescents studied at the median
proportion of use (21 % of sleep) per night (assessed by parental report) and found
that higher users had stable or improved attention, school grades, and school-related
quality of life, while low users (<21 % of sleep) were more likely to show declining
function in these areas [25]. An early paper found improvements in subjective paren-
tal assessment of sleepiness in children using PAP for treatment of obstructive sleep
apnea, but no subjective improvement in behavior or school performance [6]. More
recently, a study including children over a wider age range (2–16 years) showed a
correlation between the change in the Epworth Sleepiness Scale modified for chil-
dren and adherence as measured by both mean minutes of use/night and nights used
[5]. Although highly significant improvements were seen in behavior problems and
symptoms of attention deficit hyperactivity disorder compared to baseline in CPAP
users (mean use 2.8 h/night), no relationship was seen between hours of CPAP use
and the extent of improvement in these measures [5]. This study suggests that even a
small amount of use may be associated with improvement in daytime functioning.
The relationship between adherence to CPAP and outcomes is a complex one, how-
ever, and likely to be more so in children. Sleep requirements fall throughout child-
hood, and thus the hours of CPAP use that correspond to improvements in functioning
may vary with age. To date, no studies have had sufficient power to tease out this
relationship. It remains to clinicians to optimize adherence as far as possible, with the
expectation that more is very likely to be better.
Patterns of Adherence to CPAP
Patterns of CPAP use in adults are established early after treatment initiation, with
consistent users separating from the rest of the group by the fourth night of treatment
[26] and use in the first month reliably predicting use in the third month [27, 28].
Similarly, consistent and intermittent pediatric CPAP users differ significantly in
hours of CPAP use by the second night of therapy, and this difference is maintained
over the first 3 months of therapy (Fig. 12.1) [8]. Skipping CPAP for one or more
nights in the first weeks is also a marker of a group of patients that will likely go on to
have poor CPAP hours of use even on nights the CPAP is worn [8]. Early review and
reinforcement of treatment aims has been proposed as an important factor in promot-
ing better adherence in adults [29]. Similar principles may be applied to children, with
intensive follow-up and support in the first weeks of use highlighting the importance
of consistent attempts to apply the mask from the very start of treatment.
246 G.M. Nixon
Fig. 12.1 Patterns of CPAP use over first 3 months. Reprinted from Journal of Pediatrics [8],
Copyright (2011), with permission from Elsevier
Predictors of Adherence to CPAP
Age
The pediatric age range obviously includes children at a wide variety of develop-
mental stages. The impact of age on successful treatment with noninvasive respira-
tory support may be separated into two issues with potentially different impacts,
namely, initiation/acceptance of therapy and extent of actual use (days/week, hours/
night, etc.). A study from the UK in which CPAP was initiated during an overnight
sleep study showed lower rates of successful CPAP initiation in 1–5-year-old chil-
dren compared to both infants and children aged over 5 years [7]. This fits with
clinical experience of the difficulties with the preschool age group, although it
might have been influenced by the fact that the study protocol included CPAP being
initiated for the first time in the middle of the night. In that study, 30 % of those in
whom the first attempt at initiation was not successful went on to use CPAP follow-
ing home acclimatization [7]. Another study from Canada divided children by age
in a different way but showed similarly that children aged 6–12 years were more
likely to be successfully initiated on CPAP than those aged under 6 or over 12 years
[9]. Thus preschool children, with the possible exception of infants, present the
most challenging group for initial acceptance of CPAP.
The effect of age on hours of CPAP use has been reported by several groups. In a
Canadian study, age was demonstrated to be negatively related to adherence, with
percentage of days used and hours of use on days used being highest for children
aged under 5 years and lowest for adolescents [9]. Conversely, several studies have
found no effect of age on adherence [8, 10, 12]. One study reanalyzed this relation-
ship including only those subjects without significant neurodevelopmental delay and
confirmed an inverse relationship between days of use at 3 months and age, but no
relationship was seen between age and hours of use per night [12]. Therefore, it
could be concluded from these various studies that increasing age may adversely
affect CPAP use in typically developing children, but the relationship is likely to be
weak. In addition, older children have lower hours of sleep, and so lower hours of use
in that age group may not actually represent a lower proportion of total sleep time.
Comorbidity
A high proportion of pediatric CPAP users have a major comorbid medical condi-
tion, including significant neurodevelopmental disabilities such as Down syndrome
and cerebral palsy. These disorders have potential to impact on CPAP adherence in
either a positive or negative sense. To date, studies assessing the impact of such
comorbidities on adherence have been few and the results conflicting. Two studies
found no difference in adherence between children with intellectual disability and
typically developing children [8, 9], although O’Donnell et al. did find that children
with intellectual disability may be more likely to take time to adapt to CPAP [9].
Conversely, DiFeo et al. found that subjects with developmental delay would be
expected to use CPAP for about 2.4 h longer per night than typically developing
children, using a regression analysis [12]. These differing results may be related to
the very different and heterogeneous groups of patients studied.
Parent and Family Factors
Commitment of the child and family to the treatment contributes significantly to the
likelihood of successful use, often adding a degree of complexity not present in the
prescription of respiratory support to an adult patient. One study showed that the
average number of nights/week on which CPAP was used for less than 1 h (skipped
nights) was strongly correlated with duration of use on nights used [8]. This demon-
strates that children (and hence their parents) who make consistent attempts to use
the therapy every night from the initial education session are most likely to have
long-term success in the establishment of therapeutic CPAP. This supports previ-
ously reported studies that have emphasized the importance of parental involvement
and resolve in establishing CPAP therapy in children [4, 9, 30].
A recent study used qualitative techniques to establish that adherence to CPAP
by adolescents was influenced by the degree of structure and routine in the home,
248 G.M. Nixon
social reactions (e.g., a desire on the part of the adolescent to alleviate the caregiver’s
anxiety by using CPAP), mode of communication among family members (remind-
ers and explanation of reason for CPAP rather than threat and punishment), and
perception of the benefits of treatment [31]. Family socioeconomic status has not
been shown to be related to CPAP adherence [8], but maternal education is a rela-
tively strong predictor of CPAP use [12].
Barriers to Use
Only one pediatric study has detailed barriers to CPAP use as perceived by patients
(8–17 years) and parents, with poorer rates of adherence being associated with
greater barriers [17]. Common barriers to CPAP use included not using CPAP when
away from home (contributing to low overall usage), child not feeling well, forget-
ting to use the device, a negative emotional reaction to illness (“just want to forget
about OSA”), and embarrassment about using CPAP. Illness-related knowledge was
not an issue in this study, with no parents and less than a sixth of youths reporting
difficulty in understanding OSA or CPAP. This study identifies several potentially
modifiable factors influencing extent of CPAP use.
Side effects of CPAP are generally minor (local irritation, pressure effects) [4, 7,
11] and have not been reported to be associated with nonadherence [9], although
this has not been extensively studied.
Disease Modification
Symptoms of OSA have not been shown to predict use of CPAP [6, 10]. Similarly,
disease severity as defined by baseline obstructive apnea-hypopnea index (OAHI)
has been consistently shown to be unrelated to adherence to CPAP in children [6,
8–10, 12, 25]. Conversely, the efficacy of treatment as defined by the residual OAHI
on treatment has been shown to be related to adherence in adults [32]. One study in
children found that the difference between the initially prescribed pressure and the
treatment pressure defined by first titration polysomnogram predicted adherence
[8], suggesting a similar relationship between undertreated OSA and poor adher-
ence in children. This may be related to continued symptoms leading to perceived
ineffectiveness of the treatment in the early days of therapy.
Technical Variables
Sub-analyses in two studies have not found a difference in adherence between treat-
ment of OSA with CPAP and bi-level NIV [6, 10]. One study assessed the use of
Bi-Flex technology (Philips Respironics), which results in pressure decrements
during both late inspiration and expiration [13]. Adherence was comparable with
both modes of therapy, and neither of these types of ventilatory support were shown
to be superior to regular CPAP in terms of improvement in OAHI, hours of use, or
improvements in subjective daytime sleepiness [5, 6].
Adherence to Noninvasive Ventilation
Few centers have reported experience with adherence to NIV. One review quoted
local experience of nightly adherence at home in excess of 80 % [33]. Data from our
own center are similar, with a series of 17 patients using NIV for an average of more
than 4 h/night on 90 % of nights, with an average use per night of 9.3 (SD 1.4) hours
[34]. This is substantially higher than that reported for CPAP in many centers and
possibly reflects the way the treatment is perceived in the context of the patient’s
underlying condition. In contrast, a recent study from a single center found compa-
rable adherence with CPAP (mean 8 h 22 min) and NIV (mean 7 h 54 min) in 62
patients with a mean age of 10 years [20], highlighting the likelihood that individual
center factors that are as yet unidentified play a role in adherence. This center high-
lighted the possible influence of home visiting nurses in achieving their high levels
of adherence [20].
Improving Adherence
While no single intervention strategy can improve the adherence of all patients,
decades of research studies agree that successful attempts to improve patient adher-
ence depend upon a set of key factors. These include realistic assessment of patients’
knowledge and understanding of the regimen, clear and effective communication
between health professionals and their patients, and the nurturance of trust in
the therapeutic relationship. Taking into account each patient’s (and family’s)
beliefs, attitudes, sociocultural context, and approach to medical care in general is
essential [35].
Studies of the effectiveness of measures to improve adherence with noninvasive
respiratory support in children are very limited but are likely to flow from recent
studies of adherence predictors. Individually tailored behavioral interventions have
been shown to lead to substantial improvement in hours of usage in a group of chil-
dren who had been prescribed but were not consistently using CPAP treatment [30].
Involvement in clinic visits of a respiratory therapist skilled in the use of noninva-
sive respiratory support has also been shown to improve adherence in a group of
children with poor adherence [21]. Admission to hospital for supported CPAP ini-
tiation, play therapy, cognitive behavioral therapy for older children, and further
education and support of parents are other ways that clinicians can attempt to
modify adherence patterns. These interventions need to be tailored to the needs of
250 G.M. Nixon
individual families. Further randomized studies are needed to establish which

interventions help to reverse the pattern of low adherence in subsets of the pediatric
age group and the best timing of these interventions.
Conclusions
CPAP and NIV are effective treatment strategies for sleep-disordered breathing in
childhood. Adherence to CPAP treatment consistently falls well short of ideal, if the
goal is treatment throughout the sleep period. Factors affecting adherence are simi-
lar to those found in adults, but the additional complexity in the therapeutic process
of a parent and dependent child also has influences on treatment adherence. While
data linking adherence and treatment outcomes such as improvements in daytime
well-being and functioning are limited, studies to date suggest that this link exists.
Clinicians caring for children on respiratory support should routinely assess adher-
ence and institute vigorous efforts to improve hours of use, especially early in ther-
apy when adherence patterns are established.
Acknowledgment This work was supported by the Victorian government’s Operational

Infrastructure Support Program.
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Chapter 13
Ventilator Support in Children
with Obstructive Sleep Apnea Syndrome
Kiran Nandalike and Raanan Arens
Introduction
Obstructive sleep apnea syndrome (OSAS) in children is defined as recurrent events

of partial or complete upper airway obstruction during sleep resulting in disruption
of normal ventilation and normal sleep architecture [1]. OSAS may present in mild,
moderate, or severe forms according to the number of respiratory events, severity of
gas exchange abnormalities, and the degree of sleep disruption. In children, these
can produce long-term adverse effects in behavior and cognition and in the regula-
tion of the cardiovascular, autonomic, and metabolic systems.
The estimated prevalence of OSAS in children ranges from 1.2 to 5.7 %. It peaks
between 2 and 8 years of age and is usually associated with the phenotype of adeno-
tonsillar hypertrophy. However, OSAS can occur in children of all ages, even those
having normal size adenoid and tonsils, or those that have undergone adenotonsil-
lectomy (AT). During infancy, underlying conditions such as craniofacial anomalies
affecting upper airway structure and neurological disorders affecting upper airway
motor tone may manifest as other phenotypes of OSAS. In addition, obesity, par-
ticularly in late childhood and during adolescent years, is also a known risk factor
and may contribute to a higher incidence of OSAS that may exceed 50 % [2, 3].
Understanding the physiological mechanisms leading to OSAS in the different
phenotypes is important in order to direct the most effective care for such children.
The process of diagnosis and treatment of childhood OSAS continues to evolve as
more morbidities are recognized and more evolved diagnostic and treatment modal-
ities become available [4].
K. Nandalike, M.D. • R. Arens, M.D. (*)

Division of Pediatric Respiratory and Sleep Medicine, The Children’s Hospital at Montefiore,
Albert Einstein College of Medicine, 3415 Bainbridge Ave, Bronx, NY 10467, USA
e-mail: rarens@montefiore.org

254 K. Nandalike and R. Arens
We would like to emphasize that the current recommendation set by the American
Academy of Pediatrics (AAP) is to consider initially the need for AT as the first line
of care for children with OSAS [5, 6]. However, when AT fails to resolve the disor-
der or when it is not indicated, and particularly when nonanatomical causes perpetu-
ate the disorder, other treatments are available. Ventilatory support during sleep by
positive airway pressure (PAP) is the most common and effective nonsurgical
modality to treat OSAS in both adults and children with OSAS. Thus, this chapter
will focus on this form of therapy as it relates to OSAS and will expand on its
mechanical mechanism of support, the various forms of PAP, indications, adher-
ence, and adverse effects of such treatment in children.
Pathophysiological Mechanisms of OSAS
The upper airway in humans is a collapsible structure. Its particular shape is defined
by its surrounding tissues and its neuromuscular and functional properties. The
upper airway has three main functions: respiration, deglutition, and speech. Each
function has differing requirements—speech and deglutition benefit from the pli-
able nature of the airway. But respiration, particularly during sleep, is better served
by a stiffer airway preserving patency. Thus, it is these attributes that make the
upper airway prone to collapse during sleep in humans.
Functional Considerations
There are several arguments that suggest that functional attributes have an important
role in the causation of OSAS in children. First, airway obstruction occurs only dur-
ing sleep and not during wakefulness, suggesting that neuromotor activation keeps
the upper airway open while awake but not always during sleep when activation is
diminished. Second, a significant number of children with OSAS who undergo AT
continue to have the disorder after surgery. This suggests that other anatomical or
functional factors persist. Finally, many children with OSAS do not have adenoton-
sillar hypertrophy or other apparent anatomical risk factors such as obesity or cra-
niofacial disorders. This suggests that functional factors contributing to a more
collapsible airway exist during sleep and perpetuate the disorder.
In order to measure the functional properties of the upper airway, the pharynx
has been commonly modeled as a Starling resistor representing a collapsible seg-
ment bounded by two more rigid segments: upstream (nasal cavity) and downstream
(trachea) [7]. The Starling resistor model predicts that, in the condition of flow
limitation, inspiratory airflow is determined by the pressure upstream (nasal) to
the collapsible portion of the upper airway and is independent of the downstream
(tracheal) negative pressure generated by the diaphragm. Collapse occurs when the
pressure surrounding the collapsible segment of the upper airway, known as critical
13 Ventilator Support in Children with Obstructive Sleep Apnea Syndrome 255
tissue pressure (Pcrit), becomes greater than the pressure within the collapsible
segment of the airway and when upstream pressure is lower than Pcrit. Upstream
pressure can drop sufficiently enough during inspiration to allow collapse when
nasal resistance is increased as in craniofacial abnormalities. Of note, Pcrit depends
on neuromuscular activation in addition to the passive tissue properties of the airway
because the pharynx is not merely a passive tube; it contains active musculature [7].
Ventilatory and Chemical Drive
The central ventilatory drive changes with age from infancy to adulthood.
Methodological limitations in measuring ventilatory drive and mechanical and ana-
tomical differences across the age spectrum do not allow precise comparisons
throughout the life span. Overall, it appears that ventilatory drive gradually declines
from childhood to old age, possibly because of declining basal metabolic rate with
age. Adults with OSAS can have high-gain ventilatory control systems that model-
ing system predicts will predispose these individuals to irregular or periodic breath-
ing, ventilatory instability, and apnea. However, other studies have shown normal or
even reduced ventilatory responses in the same age group. These discrepancies
could suggest various OSAS phenotypes based on their respiratory response to
various respiratory perturbations [8]. In comparison, nonobese children with OSAS
have normal ventilatory responses to hypoxia and hypercapnia [7]. This could be
due to the shorter lifetime exposure to OSAS effects, fewer associated comorbidi-
ties, or due to an intrinsic difference in pathophysiology of OSAS in children as
compared to adults. However, subtle changes such as lack of a consistent ventilatory
response to hypercapnia in the early morning and association with airway collaps-
ibility with reduced ventilatory drive during sleep may be seen in children [7]. In
obese adolescents, a recent study reported a reduced ventilatory response to hyper-
capnia during sleep, but this has not been confirmed by other studies [9].
Ventilatory Response to Inspiratory Loading
During wakefulness, addition of an external resistive load leads to an immediate

compensatory increase in ventilatory effort that maintains gas exchange. In sleep,
this compensatory response is not normally seen unless there is a complete airway
occlusion. With partial occlusion during sleep, a decrease in minute ventilation
ensues, and compensatory increase of ventilation is delayed; the eventual correction
is believed to be in response to gas exchange abnormalities. In normal children, this
compensation can be limited and delayed by 3 min or more as compared to adults
[10]. Children with OSAS have reduced arousal responses to inspiratory resistive
loads during sleep that together with the aforementioned inadequate compensation
of ventilation may explain the prolonged periods of obstructive hypoventilation
observed in childhood OSAS [7].
Arousal
Arousal is a normal phenomenon of sleep and is defined as sudden shifts in EEG

frequency toward the awake state lasting for 3 s. However, if arousals occur too
often, they produce sleep disruption and interfere with the restorative nature of
sleep. It should also be pointed out that arousals may be considered protective to
subjects with OSAS since they coincide with increased dilator muscle activity,
reduced upper airway resistance, and restoration of normal ventilation.
Studies in children and adults have clearly shown that frequent arousal and sleep
fragmentation often lead to decreased vigilance, sleepiness, and other neurocogni-
tive impairments. Interestingly, children are much less prone to arousals due to
respiratory events than adults and typically are less sleepy compared to adults with
OSAS. The major stimuli for arousals from OSAS are thought to be mechanical
stimulation of the lung and chest wall stretch receptors due to increased respiratory
effort. However, hypercapnia is also considered a potent arousal stimulus. The
majority of obstructive events in adults are associated with arousals from non-REM
sleep. In children the majority of obstructive events occur during REM sleep, and
associated arousals are less frequent than in adults. Normal children have a higher
arousal threshold than adults; children with OSAS seem to have an even loftier
threshold for arousal in response to inspiratory loading [10] and hypercapnia [11]
compared to children without OSAS.
Neuromotor Tone and Its Evaluation
Patency allows flow through the upper airway and depends not only on mechanical
and anatomic factors but also the active dilation of the airway by neuromotor tone.
Pressure-flow relationships based on the Starling model provide an understanding
of airway stability in the “active” state with neuromotor activation and in the
“passive state” when neuromotor tone is reduced or absent and can be measured in
subjects and patients. In the Pcrit test, plotting a range of continuous positive airway
pressure (CPAP) and continuous negative airway pressure (CNAP) applied airway
pressures, against the resulting maximal inspiratory flows of breaths, generates a
flow versus pressure graph with the critical closing pressure or Pcrit being repre-
sented by the intercept on the pressure axis (where flow effectively becomes zero,
equivalent to complete airway obstruction). Airway pressure is applied by a nasal
mask with the subject in a supine position, and airflow is measured by a pneumo-
tach; the pressures applied range from positive pressures to negative (subatmo-
spheric) pressures. The derived Pcrit value is considered a measure and index of
airway collapsibility for the subject.
The Pcrit is typically lower for the neuronally active airway as compared to the
passive airway. In children especially, the Pcrit intercept value tends to be very
negative (i.e., motor tone is very high) due to unreliable extrapolation of the graphed
pressure flow line; in such cases the slope of the pressure flow line is taken as the
next best estimate of upper airway collapsibility. Developing the Pcrit technique
further can provide additional information: airflow in the first few breaths following
a suddenly applied drop in pressure to the subject, before neuromotor responses can
occur, represents the “passive airway”; this passive Pcrit can be used to estimate
mechanical and structural properties of the airway.
A passive airway closing pressure can also be estimated by measuring the pres-
sure cross-sectional area relationship observed endoscopically in anesthetized
subjects (in whom neuromotor activation is suppressed). This method is analogous
to the pressure-airflow relationship evaluated by the Pcrit method. Neuromotor acti-
vation can also be directly quantified by measuring the EMG activity of the genio-
glossus muscle which is the major pharyngeal dilator.
The pediatric airway is very resistant to collapse compared to the adult airway;
airway collapsibility increases with age during adolescence but is not a function of
pubertal development. In children and adolescents with OSAS, the Pcrit is much
higher (i.e., indicating more propensity for airway collapse) than in non-OSAS chil-
dren [7, 12]. Childhood OSAS is most prominent in REM sleep which is associated
with reduced pharyngeal tone and wide fluctuations of airflow, both of which prob-
ably contribute to OSAS. While Pcrit is difficult to measure in REM sleep for
practical reasons, reduced airway tone can be demonstrated by EMG studies of the
tongue muscles. Awake children with OSAS have higher baseline EMG tone than
normal children most probably to compensate for their narrower airways resulting
from anatomical and/or functional causes. However, with sleep onset these children
have a rapid decline in EMG tone [13] with yet further decline in the REM stage,
predisposing them to airway obstruction during sleep [14].
It is important to recognize that there can be various contributory factors to
OSAS in children either independent of or coincident with anatomical factors.
Moreover, several physiometric methods are available to evaluate alterations in
upper airway function. In conclusion and, importantly, for children with OSAS, the
finding of high Pcrit or diminished ventilatory or chemical drive in the absence of
anatomical abnormality restricting the upper airway would favor ventilatory support
during sleep rather than surgical management.
Anatomical Considerations
Anatomical factors are commonly important contributors to childhood OSAS.

A structural abnormality may be congenital, acquired, simple, or complex. They can
be solely responsible for OSAS but can coincide with functional abnormalities dis-
cussed above. Often, simple diagnostic procedures such as physical examination
and lateral neck x-ray will suffice to identify the cause of OSAS, and correcting the
primary abnormality will resolve or improve the disorder. However, in more com-
plex conditions as with children with craniofacial abnormalities, identifying the
precise structural and/or functional abnormality may require more involved methods
such as computerized tomography, magnetic resonance imaging, or sleep endos-
copy, as well as functional studies like Pcrit. In addition, clinical assessment by a
multidisciplinary team to ascertain the most proper treatment course is very helpful.
Since anatomical abnormalities usually present different phenotypes of OSAS,
these will be discussed according to stage of development.
Infancy
OSAS can occur in preterm and term infants in the first year of life. Infants are pre-
disposed to obstructive events and desaturation during sleep because of high nasal
resistance, reduced airway stiffness, and a highly compliant chest wall with reduced
functional residual capacity [7, 15]. Spontaneous neck flexion can also result in
airway obstruction in premature infants [16]. Nasal occlusion results in a switch to
oral breathing only in a minority of infants [17], and therefore obstruction of the
nasal passages from respiratory infection, craniofacial syndromes, or choanal steno-
sis can result in significant OSAS. Upper airway obstruction may also occur as a
result of airway edema, laryngospasm, and airway edema from gastroesophageal
reflux disease (GERD). The high laryngeal compliance of laryngomalacia in infants
has been demonstrated to be associated with obstructive sleep apnea with improve-
ment after supraglottoplasty [18].
OSAS in infancy is notable for its association with craniofacial anomalies, soft
tissue enlargement, and neuromuscular abnormalities. Craniofacial abnormalities
are present in single gene disorders such as Crouzon and Apert syndrome and chro-
mosomal abnormalities such as Down syndrome. Mechanisms for airway obstruc-
tion with craniofacial abnormalities include increased upper airway resistance with
maxillary hypoplasia, choanal stenosis, or compromised pharyngeal space with
mandibular hypoplasia as in the Pierre Robin sequence. Soft tissue enlargement is
present in disorders such as Down syndrome and Beckwith-Wiedemann syndrome
including relative or absolute enlargement of the tongue that predisposes to sleep-
related airway obstruction. In infants older than 6 months of age, adenotonsillar
hypertrophy and particularly adenoidal hypertrophy can result in severe OSAS with
failure to thrive that resolves after adenotonsillectomy. Conditions such as cerebral
palsy and Moebius syndrome can result in lower airway tone in the upper airway
with OSAS in infants because of their intrinsic airway collapsibility. Interestingly,
Down syndrome predisposes to OSAS with a confluence of smaller bony structure,
larger soft tissues, and lower airway tone. Overall, OSAS in infancy has not been
extensively studied, and the incidence of OSAS is not known. Limited information
is available regarding the physiological effects of OSAS in infants except for the
observation of extreme morbidities such as failure to thrive or cor pulmonale [19].
Childhood
Anatomical factors contributing to OSAS in childhood can be discussed in terms of

location of obstruction, soft tissue enlargement, and craniofacial structure. The
location of maximal upper airway narrowing in children is usually at the level of
the adenoid and soft palate based on endoscopic and MRI data [7]. The airway is
narrowest at the level of the “overlap region” where the adenoid overlaps the
palatine tonsils in the upper two thirds of the pharynx [20]. Adenotonsillar tissues
grow commensurate with age in children without OSAS maintaining a constant
proportionality with the pharyngeal airway [7]. It has been speculated that dispro-
portional overgrowth of the adenoid and tonsils in children with OSAS results from
inflammation and/or infections, but the mechanisms leading to this process have not
been elucidated. Adenotonsillar size is only weakly correlated with OSAS severity,
and position and orientation of these tissues may be important to causation of air-
way obstruction. Removal of adenoid and tonsils results in improvement of OSAS
in approximately 85 % of children with OSAS and adenotonsillar hypertrophy, but
the rest continue to have some degree of obstruction indicating the importance of
other factors in the causation of childhood OSAS.
Other soft tissues have not been implicated in the causation of OSAS in child-
hood. The tongue, the largest soft tissue structure around the pharynx, has been
reported to be similar in size in children with OSAS and in controls. The soft palate
is increased in size with OSAS, but the difference in size is not large enough
to contribute significantly to OSAS, and the enlargement is probably secondary to
inflammation from snoring [21].
The evidence regarding craniofacial structures causing OSAS in childhood is
mixed, except in cases of distinct craniofacial syndromes. Studies using cephalo-
metrics suggest that minor differences in anatomy such as retrognathic mandibles
and increased craniomandibular, intermaxillary, and mandibular plane angles which
indicate a divergent growth pattern may promote OSAS. However, other investiga-
tors have reported mild changes and reversibility in these measurements after ade-
notonsillectomy suggesting these are effects of OSAS rather than causations. MRI
evaluation of the mandibular, maxillary, and palatal dimensions has not revealed
smaller dimensions in children with OSAS suggesting that these do not contribute
to OSAS in children without craniofacial syndromes [7].
Obesity in childhood has now become a recognizable contributor to pediatric
OSAS; national estimates of obesity are 12 % and 18 % in children aged 2–5 years
and 6–11 years, respectively [22]. Epidemiologic evidence suggests that obesity
increases the odds of OSAS by 4.5 [23], and children with obesity have smaller
adenotonsillar tissue size for a similar degree of OSAS [24], even though adenoton-
sillar hypertrophy continues to be a significant factor in obese children with OSAS
[25]. The factors that potentially lead to OSAS in children with obesity include
deposition of adipose tissue in fat pads and soft tissue around the pharynx resulting
in limitation of airway size, increased airway tissue pressure, altered chest wall
mechanics, and reduction of functional residual capacity that reduces oxygen
reserves and predisposes to hypoxemia and reduced ventilator drive [7, 24].
Adolescence
The prevalence of OSAS in adolescents has not been widely reported, but the preva-
lence of OSAS in obese adolescents is high ranging from 19 to 32 % [26, 27].
Obesity is seen in 18.4 % of adolescents in the USA (12–19 years) [22] and is a
major contributor to OSAS in this age group. Adenotonsillar hypertrophy is associated

with OSAS in older children and adolescents [26, 27], but the response of OSAS to
adenotonsillectomy in obese children is limited [28] suggesting the role of other
contributors such as obesity and functional factors. Comparison of obese adoles-
cents with and without OSAS in a recent study showed larger adenoid, tonsils, and
retropharyngeal lymph nodes in the OSAS group but no difference in tongue or
mandible size. Neck parapharyngeal fat and visceral adiposity were greater in
OSAS adolescents but did not correlate with degree of OSAS, perhaps due to the
small sample size or because these may be associated only with severe OSAS.
Interestingly, lymphoid tissue did not correlate with BMI z-score suggesting that
lymphoid hypertrophy was not secondary to obesity-induced inflammation and
occurs due to a separate etiological process [25].
Ventilatory Support in Children with OSAS
OSAS in children carries significant long-term effects such as cardiovascular mor-

bidities in the form of hypertension and left ventricular dysfunction, behavior and
cognitive deficits, autonomic dysregulation, and metabolic derangements such as
insulin resistance and the metabolic syndrome. Thus, the need for early diagnosis
and intervention is essential to prevent the long-term consequences of the untreated
disorder. As mentioned above, the AAP recommends AT as the treatment of choice
for children with OSAS. However, when AT or other upper airway surgeries are not
effective or indicated, and particularly when functional attributes are considered,
PAP therapy during sleep has been shown to be an effective treatment.
The first publication to demonstrate the efficacy of PAP was in adult patients
with OSAS and was reported by Sullivan et al. in 1981 [29]. This treatment was
approved in 1985 by the FDA for adults with the disorder [29]. Soon after, PAP was
successfully introduced by Guilleminault et al. as an alternative modality to trache-
otomy for children with OSAS due to severe underlying craniofacial disorders [30].
Since the above reports, many forms of PAP devices have been developed for
children with sleep-disordered breathing and OSAS and are now available for the
pediatric population all over the world.
Mechanism of PAP Ventilation in OSAS
The mechanical effect of PAP therapy is by maintaining a pneumatic splint between

the upper airway and surrounding tissues by maintaining the intraluminal pressure
above the Pcrit pressure. Schwab at al. have studied the effects of PAP on upper
airway in normal adult subjects using magnetic resonance imaging studies [31, 32].
Effective PAP increases the mean and minimal cross-sectional upper airway area
and overall upper airway volume and particularly provides an increase in the lateral
airway diameter that tends to be reduced in adults with OSAS. PAP also reduces the
lateral pharyngeal wall thickness and reduces upper airway edema resulting from
chronic vibration and occlusion of the airway. PAP has also shown to increase the
end expiratory volume, thereby exerting a tracheal tug and stiffening the upper air-
way [33]. Airway resistance is inversely proportional to the fourth power of airway
radius. Even a small increase in airway diameter can significantly decrease the air-
way resistance and therefore decrease the work of breathing. PAP therapy has been
documented to be effective in eliminating both obstructive and mixed apneas as well
as some central apneas that are observed in patients with predominant obstructive
apnea. Thus, PAP can alleviate both the short-term impact of OSAS by improving
ventilation and sleep efficiency as well as reducing their long-term consequences.
Forms of PAP Ventilation and Technical Considerations
Various forms of PAP therapy exist to treat sleep-disordered breathing and OSAS
(Table 13.1). PAP can be administered invasively through a tracheotomy site or
noninvasively using interfaces applied to the nose or mouth and nose combined. In
most instances PAP is administered noninvasively for OSAS subjects. The most
common form of PAP ventilation is continuous PAP (CPAP). This form of therapy
provides a constant positive air pressure throughout the respiratory cycle and is
Table 13.1 Forms of PAP ventilation

Form Mechanism of action Indications
Continuous positive Continuous pressure during OSAS secondary to
airway pressure (CPAP) both inspiration and expiration isolated upper airway
Mechanical splint effect obstruction
Increase the lung volume and
exerts tracheal tug
Bilevel positive airway Two-level pressures, inspiratory OSAS with obstructive
pressure (BLPAP): (IPAP) and expiratory (EPAP); hypoventilation, obesity
available in spontaneous the difference in pressure (PS) hypoventilation and
(S), spontaneous timed delivers the tidal volume and neuromuscular diseases,
(S/T), or timed (T) the backup rate that can be and nonobstructive
modes timed to patient’s breathing, hypoventilation, CCHS
ensures adequate ventilation
Automatic positive Pressure adjusted with patient’s Subjects with sleep stage
airway pressure (auto breathing cycle dependent or positional
PAP) sleep apnea (role not
well studied in children)
Adaptive servo- Analyzes breath to breath Complex sleep apnea or
ventilation (ASV) ventilation and delivers set central sleep apnea (role
ventilation by adjusting the not well studied in
pressure with each respiratory children)
cycle
Fig. 13.1 A split-night PSG in an 18-year-old male with severe OSAS. The red arrows point to the
improvement in sleep architecture (upper panel), arousals (brown bars), and oxygen saturation (O2
sat, red trace, and obstructive events (green bars) with introduction of PAP therapy (green tracing
of pressure measured by cm H2O, in lower panel))
usually sufficient to overcome both obstructive and/or hypopnea events while

correcting any gas exchange abnormalities and restoring sleep patterns. Pressure
adjustments are performed during an overnight sleep study, and the goals are to
eliminate all respiratory events while restoring normal ventilation and oxygenation
and sleep architecture and while ensuring patient tolerability. Figure 13.1 exhibits a
CPAP titration study in a child with OSAS.
In addition to CPAP therapy for OSAS, other devices are available for the use of
children today (Table 13.1). Bilevel positive airway pressure (BLPAP) provides two
adjustable levels of pressures: inspiratory positive airway pressure (IPAP) and the
expiratory positive airway pressure (EPAP). In addition this device is capable of
providing a backup rate of ventilation. BLPAP is useful to treat children with OSAS
as well as other forms of sleep-disordered breathing including chronic alveolar
hypoventilation that will be discussed below and more extensively in other chapters
in this book. Briefly, chronic alveolar hypoventilation could be isolated as seen in
congenital central hypoventilation syndrome (CCHS) or could be part of sleep-
disordered breathing as seen in children with neuromuscular diseases. Both IPAP
and EPAP help maintain the airway patency, and the pressure support (IPAP-EPAP)
augments the ventilation. The BLPAP respiratory rate can be set at spontaneous
mode (S), spontaneous/time mode (S/T) mode, or as timed mode (T), to ensure
adequate ventilation. There are no specific criteria for use of BLPAP in children
with isolated OSAS. BLPAP is better tolerated in some individuals with severe
OSAS because of the pressure relief during exhalation and lower mean airway pres-
sure during the respiratory cycle [34].
Auto PAP (auto-titrating PAP/self-adjusting PAP) senses the subtle changes in
users’ breathing and delivers only the amount of pressure needed to keep the airway
open. The variable pressure response of auto-CPAP may better suit the children
under different conditions such as upper airway infections, different sleeping posi-
tions, and abrupt changes in weight. Although auto PAP has shown to improve the
acceptance and compliance in older individuals with OSAS, its use has not been
well studied in children [35]. Adaptive servo-ventilation (ASV) is indicated in
subjects with central sleep apnea of any form (heart failure, complex sleep apnea, or
drug induced). ASV adapts to patient’s ventilator needs on breath by breath basis,
automatically calculates the target ventilation, and adjusts the pressure support to
achieve this. ASV use has shown to improve the survival in some adult patients with
heart failure [36]. The use of ASV in children is not well studied.
A PAP device has a flow generator, a hose that connects the flow generator to the
interface, and an interface that connects the hose to the patient. PAP device technol-
ogy has improved significantly in recent years in order to increase patient tolerance
and therapy compliance [37]. The newer devices are less noisy and less bulky. They
are equipped with inbuilt humidifiers which provide heated humidification and
reduce naso-oral dryness. The newer devices also have optional heated tubings,
mask liners to reduce facial irritation, options for ramp time (pressure gradually
increases to the set pressure over a set time), flexible chin straps to decrease the air
leak through the mouth, expiratory pressure relief (Cflex), as well as data logging
records (compliance chips) which allow the physicians to monitor compliance and
effectiveness of the treatment either locally or remotely.
Similarly, interface technology has improved significantly in recent years, and
this is critical because establishing a comfortable but effective interface is key to the
success of PAP acceptance and adherence. A poor fitting mask can lead to air leak
that results in ineffective pressure and frequent arousals, discomfort, and facial
injury. There are different varieties of interfaces including nasal, nasal pillow,
Fig. 13.2 A 17-year-old girl with OSAS receiving PAP titration trial in our lab
oronasal, and full-face masks. The comparative studies in terms of acceptance and
adherence between different interfaces are limited in children. It is frequently dif-
ficult to find a correctly fitting mask in young children especially those with cranio-
facial anomalies. Different interfaces need to be trialed during the introduction of
the PAP therapy to find the best interface. Also, the interfaces need to be frequently
reevaluated and adjusted for a growing child. Custom-made interfaces have shown
promise in terms of easy adaptability and less facial complications [38]. However,
currently the custom-made masks are not available in the USA. Also, FDA has not
approved any PAP devices or interfaces for children with weight less than 10 kgs,
mostly, due to the lack of data on efficacy and compliance in this age group.
PAP therapy for children should be initiated under appropriate supervision, ide-
ally in an accredited sleep laboratory or in the hospital while monitoring respiratory
and sleep parameters by expert technicians or respiratory therapist trained in the care
of children. Figure 13.2 shows a picture of a child receiving PAP titration therapy in
our lab. The children and the families should receive appropriate education, hands-on
demonstration, careful mask fitting, and acclimatization prior to initiating full-time
therapy. On the night of titration, the optimal PAP pressure, that which eliminates all
apneas, hypopneas, and respiratory flow-related arousals both in supine and lateral
positions, needs to be determined. PAP titration can be done on the night the OSAS
is diagnosed (split night) or on a second full-night study. However, in children two
night studies are preferred over a split-night study in order to improve PAP accep-
tance. The technical details on the PAP titration are available from the American
Academy of Sleep Medicine guidelines (AASM) from 2008 [39].
Invasive PAP is rarely indicated in children with OSAS; however, it may be
required in children with severe OSAS who have a tracheotomy or those who can-
not tolerate any form of mask interface. Tracheotomy alone relives the obstruction
in majority of these children without the need for further PAP via tracheotomy.
However, invasive PAP may be required in some children, for example, those with
neuromuscular weakness or when there is significant daytime hypoventilation.
Please refer to the chapter on home ventilation in children with neuromuscular
diseases for further details. Invasive ventilation/PAP may also be required in some
children with obesity hypoventilation syndrome.
Indications for PAP Ventilation
PAP is clinically indicated for children with OSAS and other forms of sleep-
disordered breathing resulting from a wide spectrum of clinical disorders. In general,
these can be stratified into four main categories as illustrated in Table 13.2: OSAS in
otherwise healthy children, OSAS associated with craniofacial malformations and
genetic disorders, OSAS associated with altered CNS function, and OSAS associ-
ated with miscellaneous conditions. In this section we will review the most common
medical conditions in which PAP has been shown to be an effective therapy.
OSAS in Otherwise Healthy Children
OSAS Associated with Obesity
Obesity is reaching epidemic proportions across all age groups including children.
OSAS is a common comorbid condition in obese children. Presence of obesity has
been shown to increase the risk of OSAS by more than fourfold [40]. Adenotonsillar
hypertrophy is frequently seen in obese children, and some studies have reported
OSAS prevalence as high as 45 % in obese children [25]. AAP recommends AT as
the first-line treatment for OSAS, even in obese children, because of such high
prevalence of adenotonsillar hypertrophy and low compliance with PAP therapy in
these children [5, 6]. AT significantly improves the symptoms and polysomnogra-
phy parameters in obese children with OSAS, but the cure rate is low and ranges
between 26 and 46 % [41]. The reasons for such high failure rate are not well under-
stood but include anatomical risk factors such as increased parapharyngeal fat pad
size and visceral adiposity that may further reduce upper airway size and stability
during sleep, independently of tonsillar and adenoidal tissue [2, 3]. PAP is a good
treatment alternative for these children who have failed AT or who for those who do
not have evidence of adenotonsillar hypertrophy.
Residual OSAS After AT
A common indication for PAP therapy is for otherwise healthy nonobese children
without apparent craniofacial or neurological disorders who present with residual
OSAS after AT. In addition to the recurrence of clinical symptoms, a diagnosis of
OSAS should be confirmed by polysomnography in these children. The success rate
of AT varies between studies but is usually reported to be between 71 and 87 %,
though some studies suggest a much lower cure rate [5, 6]. Several studies identify
risk factors for residual OSAS including older age group, presurgical severity of
OSAS, obesity, asthma, and family history of OSAS [42].
Table 13.2 Indications for PAP ventilation in children with OSAS

OSAS in otherwise healthy children
OSAS associated with obesity
Residual OSAS after AT
Isolated upper airway deformities/anomalies
Choanal atresia
Choanal stenosis
Laryngomalacia
Subglottic stenosis
Laryngeal cyst
Laryngeal stenosis
Laryngeal web
Subglottic stenosis
Tracheomalacia
OSAS associated with craniofacial malformations and genetic disorders
Craniofacial anomalies:
Apert syndrome
Crouzon syndrome
Pfeiffer syndrome
Treacher Collins syndrome
Robin sequence
Stickler syndrome
Nager syndrome
Hallermann-Streiff syndrome
Goldenhar syndrome
Rubinstein-Taybi syndrome
Down syndrome
Beckwith-Wiedemann syndrome
Achondroplasia
Klippel-Feil syndrome
Marfan syndrome
Prader-Willi syndrome
Mucopolysaccharidoses (Hurler, Hunter)
Craniosynostosis
OSAS associated with altered CNS function (Stratification according to level of involvement)
Upper motor neuron
Cerebral palsy
Brain stem
Congenital central hypoventilation syndrome (CCHS), Arnold Chiari type I and II
Spinal cord injury
C1–C5
Motor neuron
Spinal muscular atrophy, poliomyelitis
(continued)

Peripheral nerve
Vocal cord paralysis, phrenic nerve injury, hereditary motor and sensory neuropathies
(Charcot-Marie-Tooth), hereditary sensory autonomic neuropathy, leukodystrophies, Guillain-
Barre, polyneuropathy
Neuromuscular junction
Myasthenia gravis, congenital myasthenia
Muscle (types)
Dystrophinopathies
Duchenne muscular dystrophy, Becker muscular dystrophy
Non-dystrophinopathies
Facioscapulohumeral, merosin deficient, merosin positive
Myotonic dystrophy
Myotonic dystrophy, congenital myotonic dystrophy
Congenital myopathies
Nemaline, central core, centronuclear, multicore, minicore
Mitochondrial myopathies
Mitochondrial myopathy with ophthalmoplegia, MELAS
Inflammatory myopathies
SLE, polymyositis
OSAS associated with miscellaneous conditions
Metabolic disorders
Lysosomal storage diseases (mucopolysaccharidoses)
Glycogenoses (glycogen storage diseases)
Sickle cell disease
Face and neck burns
OSAS Associated with Laryngomalacia
In otherwise healthy nonsyndromic children, several medical conditions including

deformities or anomalies along the upper airway could lead to flow limitation and
OSAS (Table 13.2). However, the most common condition is laryngomalacia. This
condition is defined as the collapse of the supraglottic structures in to the laryngeal
inlet during inspiration. Laryngomalacia is the most common cause of stridor and
OSAS in infants with a reported prevalence between 8 and 50 %. Laryngomalacia is
also common in children with neuromuscular disorders (NMD) and especially in
children with Down syndrome. Late-onset laryngomalacia has been reported in a
significant number of older children with OSAS (3.5 %).
In 80 % of children with infant laryngomalacia, symptoms resolve within 6–9
months of life. However, severe laryngomalacia with secondary consequences is
seen in the remaining 20 %. Though symptoms may appear throughout the day, they
are most prominent in the supine position during sleep and are associated with
severe upper airway obstruction, alterations of gas exchange, increased work of
breathing, poor feeding, and poor weight gain. In some severe cases pulmonary
hypertension and cor pulmonale have been reported [43]. Polysomnography is an
important tool to assess the severity of laryngomalacia as well as treatment follow-
up; however, most centers do not routinely perform polysomnography for these
children. Supraglottoplasty is the treatment of choice in severe cases of laryngoma-
lacia [44]. This surgery has shown to significantly improve the symptoms as well as
PSG findings both in infants and children [45]. However, supraglottoplasty is not
always successful in children with associated comorbid conditions. PAP therapy is
the preferred mode of treatment for children with laryngomalacia with significant
comorbid conditions as well as in those who fail surgery. Efficacy of such treatment
in young infants with laryngomalacia has been established by several studies
[46–49].
OSAS Associated with Craniofacial Malformations and Genetic Disorders
Craniosynostosis
Children with syndromic craniosynostosis are reported to have high prevalence of

OSAS. Craniosynostosis, characterized by premature closure of cranial sutures, is
an autosomal dominant condition but can be an isolated disorder or coincide with
several genetic syndromes such as Crouzon, Apert, and Pfeiffer. Cranial malforma-
tions, particularly when associated with a smaller anterior cranial base, midface
hypoplasia, mandibular hypoplasia, choanal atresia cleft palate, and excessive pha-
ryngeal collapsibility, increase the risk of OSAS [50]. In addition, such individuals
may have increased intracranial pressure and decreased brain growth; the further
presence of OSAS can increase the risk for central apnea, neurocognitive deficits,
risk of heart failure, and sudden death [51].
Monitoring of sleep-disordered breathing is essential in these patients; the treat-
ment of their OSAS may be difficult. Treatment approaches depend on the type of
sleep-disordered breathing and OSAS and severity of upper airway obstruction and
as they relate to underlying anatomical and functional causes. In regard to surgical
management, these could include some of the following: adenotonsillectomy [52],
facial advancement surgery [53], and mandibular advancement. However, these are
not always successful in reducing the severity of OSAS in these children. PAP ther-
apy can be a useful treatment alternative in some of the milder cases who are either
waiting for the surgery or who have responded only partially to surgery. PAP ther-
apy should also be attempted in at least some of these children before tracheotomy,
to determine if it would be an adequate alternative. It should be mentioned that a
significant obstacle for treatment success and adherence with PAP is matching the
appropriate mask or nasal prong interface for such children, since custom masks are
not usually available. However, PAP has been tried and shown to be effective in
reducing the severity of OSAS in many of these disorders [50].
Pierre Robin Sequence
OSAS is a common comorbid condition in a majority of children with Pierre Robin

sequence. Pierre Robin sequence, first described in 1928, is characterized by retrog-
nathia and glossoptosis with and without cleft palate. This sequence could be a part
of genetic syndrome or could be an isolated finding not related to any genetic syn-
drome. A small mandible seems to be the main culprit in this sequence with result-
ing glossoptosis and impaired palate development. Presence of micrognathia with
glossoptosis significantly increases the risks of developing OSAS, and studies have
reported high prevalence of OSAS in (46–83 %) these children [54]. Often times,
OSAS in these children can be suspected from feeding difficulties or failure to gain
weight rather than typical symptoms of OSAS such as snoring or difficulty breath-
ing [55]. Several oral appliances and mandibular distraction techniques have been
shown to improve the OSAS symptoms in these children. Upper airway dimensions
can improve over time, making PAP therapy a good alternative therapy to consider
before mandibular surgeries [56].
Achondroplasia
OSAS is common in children with achondroplasia. This autosomal dominant

genetic condition is characterized by short-limb dwarfism. OSAS is highly preva-
lent (~75 %) [57] and starts to manifest early in life. Several risk factors including
smaller cranium, small midface, relative adenotonsillar hypertrophy, hydrocepha-
lus, and stenotic foramen magnum with brain stem compression increase the risk of
OSAS in these children [58]. AT improves OSAS, but residual OSAS is seen in a
high proportion of these children. Upper airway surgeries, including facial advance-
ment, are shown to improve OSAS. PAP has been tried and is shown to be beneficial
in majority of these children with OSAS [57].
Down Syndrome
Down syndrome is the most common genetic cause of intellectual impairment with
the incidence of about 1:670 live births. Children with Down syndrome suffer from
significant comorbid conditions including congenital heart disease, hearing and
vision impairment, thyroid disease, certain hematological malignancies, and some
bone disease. The prevalence of sleep-disordered breathing and OSAS among chil-
dren with Down syndrome is reported to be between 30 and 100 % [59–61]. The
reasons for such high variation in prevalence is likely due to different definitions
used to define these disorders in various studies, lack of normative data of these
populations, different age groups, and different sources of recruitment.
Nevertheless, the reasons for such high prevalence of OSAS in this population
is explained by the anatomical differences including smaller midface, small man-
dible, relative macroglossia, decreased airway tone with easy collapsibility of
hypopharyngeal space, and enlarged lingual tonsils, as well as a significantly high
proportion of laryngomalacia, especially in infants [62–66]. The prevalence of obe-
sity is also high in children with Down syndrome adding to their overall risk for
OSAS. Children with Down syndrome also have a high prevalence of hypothyroid-
ism (20–30%) which starts manifesting as early as infancy and increases their risks
of OSAS [67].
It is important to mention that due to the high prevalence of sleep-disordered
breathing in these children, the American Academy of Pediatrics recommends
screening for SDB/OSAS in these children during early and late childhood and
adolescent years. The consequences of OSAS in this population are especially seri-
ous given their underlying heart disease and low intellectual capacity. Unrecognized
and untreated OSAS puts these children at high risk for additional neurocognitive
impairment, disruptive behavior, systemic hypertension, pulmonary hypertension,
and cor pulmonale [68–71].
Adenotonsillectomy has a success rate of only about ~20 % in these children
[72]. This is not surprising given their multifaceted airway obstruction risks. PAP is
shown to be an effective mode of treatment in these children. Adherence to PAP
is shown to be improved by avoiding split-night polysomnography studies, gradual
introduction of mask use, and close clinical follow-up and tracking the therapy
compliance data.
Prader-Willi Syndrome
Sleep-disordered breathing including OSAS, central sleep apnea, and obstructive

hypoventilation is commonly seen in children with Prader-Willi syndrome (PWS).
PWS is a genetic condition resulting from deletions on chromosome 15. Several
phenotypic characteristics of PWS children increase their risks for OSAS including
hypotonia, obesity, and hypothalamic dysfunction [73]. Growth hormone has shown
to significantly decrease the body mass index and body fat distribution in children
with PWS. Long-term treatment with growth hormone can reasonably be expected
to decrease the risk of OSAS in these children. However, studies have shown that
there is a risk of sudden death secondary to worsening OSAS in children with PWS
within the first 6–8 weeks of starting growth hormone therapy [74]. Even with opti-
mal treatment of OSAS, some PWS children exhibit excessive daytime sleepiness
or daytime hyperactivity. These could be related to their inherent hypothalamic dys-
function. Despite this, PAP therapy is still a good treatment option for OSAS in
these children [75].
OSAS Associated with Altered CNS Function
Neuromuscular Disorders
Sleep-disordered breathing (SDB), with or without OSAS, is well recognized in

children with neuromuscular disorders. Several risk factors including reduced ven-
tilatory responses, reduced activity of respiratory muscles during sleep, reduced
upper airway dilator tone, and poor lung mechanics due to the underlying neuro-
muscular disorder predispose these children to develop SDB. In addition, the pres-
ence of adenotonsillar hypertrophy and obesity may exaggerate the underlying
SDB. SDB can be present as OSAS, nocturnal obstructive hypoventilation, or diur-
nal hypoventilation. Untreated SDB may contribute to significant cardiovascular
morbidities, neurocognitive deficits, and premature death. PAP therapy for these
children includes CPAP, BLPAP or invasive ventilation depending on the severity of
SDB [2, 3].
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare autosomal domi-

nant, lifelong condition caused by PHOX2B mutation, wherein control of breathing
is abnormal and patients present with hypoventilation. Adequate ventilation during
wakefulness and sleep is the key to the overall well-being and good quality of life
for these children. CCHS patients who are on diaphragm pacing at night are at risk
for OSAS during sleep. Both invasive and noninvasive ventilators have been suc-
cessfully used in these children [76, 77]. Please refer to the chapter on CCHS in this
book for further details.
Chiari Malformation
Sleep-disordered breathing, more commonly a central sleep apnea and occasionally

obstructive sleep apnea, has been reported in children with type 1 Chiari malforma-
tion. Decompression surgery with resulting decrease in intracranial pressure has
shown to improve SDB symptoms in a majority of these children [78]. There are
some reports of successful PAP therapy including adaptive servo-ventilation in
some children with residual SDB post decompression [79].
Cerebral Palsy
OSAS is frequently seen in children with cerebral palsy. The presence of poor med-
ullary control of breathing, inadequate neuromuscular tone, seizure, gastroeso-
phageal reflux, increased oral secretions, and inability to change the posture and
protect the airway at night increases their risk of obstructive hypoventilation and
obstructive apneas during sleep [80]. The tonsils and adenoid, if only mildly
enlarged, can increase the risk of OSA in these children, and adenotonsillectomy
has shown to significantly improve OSA in these children [81]. Uvulopalatoph-
aryngoplasty and tongue base suspension, in addition to adenotonsillectomy, may
benefit some children. PAP therapy is successfully implemented in some children
with residual OSAS post surgery as well as in children who are not considered sur-
gical candidates. Tracheotomy is needed is some children with severe OSAS.
Miscellaneous
Mucopolysaccharidosis (MPS)
Sleep-disordered breathing is noted in more than 80 % of patients with MPS [82].

Several factors including mucopolysaccharide deposition in the upper airway and
trachea, abnormalities of the skeletal structure, alteration of thoracic cage, restric-
tive lung disease with reduced lung capacity, and reduced diaphragmatic activity
increase the risk of OSA and obstructive hypoventilation in these children. OSA and
nocturnal hypoventilation can result in pulmonary hypertension, cor pulmonale,
respiratory failure, and early death in these children. PAP therapy has shown to
be beneficial in this population even though compliance remains a major issue.
Tracheotomy may be required if PAP therapy fails, and tracheotomy with PAP
therapy may be required when there is daytime hypoventilation [83]. However, tra-
cheotomy carries certain specific risks in these children including stomal narrow-
ing, granulation formation, infrastomal tracheal stenosis, wound infection, and
tracheomalacia [83–85].
OSAS in Children That Are Not Candidates for AT
PAP, instead of AT, can be considered a first-line therapy for those children who do
not meet the criteria or suitability for AT. Absence of tonsils and adenoids, lack of
AT hypertrophy, surgical comorbidities like bleeding disorders, or in children whose
parents decline AT are examples.
Efficacy of PAP Ventilation
PAP therapy has shown to be effective in improving both respiratory parameters and
sleep architecture in children with OSAS [86]. PAP therapy has also shown to
improve neurobehavioral aspects of OSAS such as attention span, hyperactivity,
and daytime sleepiness, as well as school performance [86, 87]. The data regarding
neurocognitive, metabolic, inflammatory, and cardiovascular outcomes in children
are limited, however. For adults, a number of studies have shown significant
improvement in nocturnal sleep, daytime sleepiness, and improvement in quality of

life, improvement in mood, a short-term improvement in blood pressure, improvement
in glycemic control, as well as an improvement in cognitive function [88–92].
Adherence to PAP Ventilation
PAP therapy is shown to be an effective treatment modality for OSAS across all age
groups of children with different underlying pathophysiological mechanisms.
However, effectiveness of PAP is limited by poor adherence. Information on barri-
ers to effective PAP therapy and techniques to overcome those barriers are limited.
Studies have shown that older children (late teens), lower maternal education,
lower socioeconomic status, African American race, oronasal interface, lesser body
mass index, and lesser severity of OSAS predict poor compliance with PAP therapy
[93]. The side effects/complications from PAP therapy including oronasal irritation,
dryness, facial abrasion, facial pain, epistaxis, and the feeling of claustrophobia
from interface are also important barriers to PAP therapy. Marcus et al., in their
prospective study on compliance in a small group of children with OSAS, have
noted a high dropout rate (35 %), overall low average nightly use (5.3 h/night), and
frequent overreporting of the adherence by parents compared to the objective com-
pliance data [86]. Uong et al. have shown that PAP compliance can be significantly
improved (85 %) with intensive PAP education and close clinical follow-up [94].
It is also reported that children with more severe OSAS were more adherent with
the PAP treatment [87]. O’Donnell et al. have reported that the gradual introduction
of PAP mask and close follow-up is helpful in PAP acceptance and long-term adher-
ence in children with OSA across all age groups with different underlying comorbid
conditions [95]. Behavioral analysis and therapy for the children and the families
who are noncompliant with PAP therapy has also shown to improve the adherence
[96]. The specific measures to improve the adherence are lacking in adults as well.
However, a multilayered approach in both adults and children which includes
intense education and support, cognitive behavioral therapy, and occasional hyp-
notic therapy has been shown to improve adherence to therapy [37].
Adverse Effects of PAP Ventilation
The common reported side effects from PAP therapy include nasal congestion, oro-
nasal dryness, epistaxis, eye irritation from air leak, facial pain, and skin abrasion
[97]. Oronasal dryness is the most commonly experienced side effect from PAP
therapy and hinders the adherence with PAP therapy. The newer devices with heated
humidification are shown to improve the oronasal dryness and improve adherence
in some subjects. Claustrophobia about the interface is also one of the commonly
experienced symptoms in children and adults at the initiation of PAP therapy.
Continued use of the PAP and a trial of different interfaces are shown to overcome
this barrier [98]. Skin necrosis and ulceration at the pressure points, mostly glabella,
have been reported in some cases [99]. Facial deformity secondary to long-term
PAP use has also been an issue. Guilleminault et al. first reported a case of severe
maxillary hypoplasia secondary to long-term PAP use in a 15-year-old obese,
African American male child [100]. The second case of midface hypoplasia second-
ary to long-term mechanical ventilation in a child with CCHS is reported by Maria
Villa et al., and the authors have also shown reversal of this deformity using the
custom-made mask [101, 102]. Furoux et al. have studied a larger group of children
on long-term PAP use and noted global facial flattening in up to 68 % of the children
and maxillary retrusion in 38 % of the subjects. These deformities were directly
linked to the amount of daily PAP use. The authors also reported significant skin
injury in 48 % of their patient population including skin necrosis in 8 %. The study
was limited by lack of radiological studies to confirm the findings and then lack of
long-term follow-up to look for resolution of the anatomical defects in their study
group [103]. Data is still not conclusive on the long-term effects of PAP on growing
skeleton. However, routine follow-up with special attention to midface growth
is essential in children especially in young children in whom long-term PAP is
anticipated.
Alternative Treatments to PAP Ventilation
Alternative treatments for PAP ventilation should be considered in children who

cannot tolerate PAP or show low compliance. Several alternative therapies should
be considered and are discussed here briefly.
Medications
Intranasal steroids and leukotriene receptor antagonists have shown to improve sub-
jective symptoms as well as polysomnography parameters in children with mild and
moderate OSAS with or without adenotonsillar hypertrophy [104–106]
Treatment with Nasal Insufflation
High-flow warm, humidified air, through nasal cannula, has shown to improve the
sleep architecture and respiratory parameters in a small group of children with mild
and moderate OSA [107]. Even though it is not as effective as PAP therapy, the
acceptability and compliance with high-flow oxygen also seems to better compared
to PAP therapy.
Nasal Expiratory Positive Airway Pressure (EPAP) Device
Nasal expiratory positive airway pressure (nEPAP) delivered with a disposable

device (Provent, Ventus Medical) has been shown to improve OSAS in some adults
with mild to moderate OSAS [108]. This device has not been studied in children yet.
Oral Appliances
Oral appliances including tongue devices and mandibular advancement devices

move the tongue and mandible forward and away from posterior pharynx and
improve upper airway patency. Oral appliances have been studied in a small group
of children with OSA. In children with mild OSA and dental malocclusion/
mandibular malposition/micrognathia, oral appliances are shown to reduce AHI,
improve nocturnal sleep, and improve daytime sleepiness [101, 109].
Rapid Maxillary Expansion
Rapid maxillary expansion is an orthodontic procedure used in children with maxil-

lary restriction and dental malocclusion. In this procedure the transverse diameter of
the hard palate is gradually increased over months by a fixed dental device which
has an expansion screw. Two studies have shown that rapid maxillary expansion
normalizes polysomnography parameters and symptoms of OSAS in a small group
of children with dental malocclusion and narrow palate [110, 111].
Complex Upper Airway Surgery
Upper airway surgeries such as maxillomandibular expansion and mandibular

distraction osteogenesis are shown to improve OSA in some children with either
isolated or syndromic midface and or mandibular hypoplasia [112, 113].
Tracheotomy
Tracheotomy is the most extreme surgical treatment to treat OSAS and is highly
effective. Tracheotomy should be considered in children with severe craniofacial
malformation who have severe OSAS or children who present with other significant
comorbid conditions that hinder the use of the PAP ventilation or other upper airway
surgeries or in cases where the other surgical modalities fail. Tracheotomy can also
be used as temporary measure in some children with severe OSAS awaiting
surgery.
Future Directions
Despite the wide use of PAP therapy in children with OSAS, there is still a great
need for information regarding its clinical efficacy. Most studies addressing efficacy
of PAP ventilation in respect to neurocognitive, behavioral, cardiovascular, and
metabolic outcomes are derived from adults. Thus, similar studies need to be con-
ducted in children. However, there are several barriers to such studies in children,
particularly in respect to performing randomized control studies requiring use of
sham PAP therapy, the fact that AT is the historical default treatment of choice, and
the fact that there are various phenotypes of OSAS in children. All of these need to
be accounted in the design of good efficacy studies.
Finally, there is a need for the development of new PAP modalities and especially
masks and other delivery interfaces for infants and young children with OSAS, for
phenotypes of OSAS associated with craniofacial disorders, and for children who
are neurologically impaired.
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Chapter 14
Ventilator Support in Children
with Neuromuscular Disorders
Anita K. Simonds
Introduction
Children with neuromuscular disease involving the respiratory muscles have a

restrictive ventilatory defect which results from a combination of inspiratory muscle
weakness, the presence of a thoracic scoliosis and decreased chest wall and pulmo-
nary compliance. Reduced cough efficacy and bronchial secretion clearance occur
due to expiratory muscle weakness together with inspiratory muscle weakness. In
many neuromuscular conditions, e.g. Duchenne muscular dystrophy (DMD) and
congenital myopathies, inspiratory and expiratory muscle strengths decline in tan-
dem; in others, e.g. spinal muscular atrophy (SMA), relative preservation of dia-
phragm strength and early involvement of expiratory muscles mean that secretion
clearance problems predate the development of ventilatory decompensation during
sleep. This has implications for clinical management which are discussed below.
The main questions to address regarding timely and appropriate introduction of
ventilatory support in patients with neuromuscular disease are as follows:
• What is the natural history of the disorder?
• What is the probability of respiratory failure and at what age?
• What is the likelihood of problems with secretion clearance/recurrent chest
infections?
• What other complications will impact on these decisions?
• What is the expected outcome of ventilatory support?
• What are the consequences of not providing ventilatory support?
Table 14.1 shows the probability of respiratory complications across a range of
conditions. These data have become clearer over the last 10–15 years. Much has been
A.K. Simonds, M.D., F.R.C.P. (*)

NIHR Respiratory Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation
Trust, Sydney Street, London SW3 6NP, UK
e-mail: A.Simonds@rbht.nhs.uk

284 A.K. Simonds
learnt from paediatric neurology and neuroscience colleagues in understanding the

molecular basis of the disorders and the link between genotype and phenotype. For
example, it is evident that limb-girdle muscular dystrophy consists of a range of dif-
ferent disorders, and this is true of congenital muscular dystrophies (CMDs) and
congenital myasthenia. The application of this knowledge in forecasting the outlook
for each case and personalising interventions and care plans is explored below.
However, in broad terms, there are groups in which early ventilatory failure is inevi-
table, e.g. type 1 SMA, SMARD (spinal muscular atrophy with respiratory distress)
and X-linked myotubular myopathy; diagnoses where ventilatory failure develops
gradually over time, e.g. DMD and congenital muscular dystrophy; and others where
respiratory failure is rare, e.g. facioscapulohumeral muscular dystrophy [1]. Further,
there are some disorders in which respiratory complications are hugely heteroge-
neous, e.g. nemaline myopathy—here we simply do not yet understand differences
in genotype and other genetic and epigenetic variables which influence the expres-
sion of the disease.
Pathophysiology
The natural history of decline in many neuromuscular disorders is indicated in

Fig. 14.1. In slowly progressive conditions such as DMD, pulmonary function may
develop along normal expected growth vectors until the early teenage years when
ambulation is lost. At this point, a plateau in vital capacity is seen followed by a
decline in vital capacity as inspiratory muscle weakness becomes severe and com-
plications, such as scoliosis, develop [2]. The peak vital capacity (VC) obtained in
the plateau phase in the absence of ventilatory support is a prognostic factor, in that
a peak VC of less than 1.2 L was associated with an average age of death of 17 years
and those with a peak VC in excess of 1.7 L often had a life expectancy greater than
30 years of age. With the advent of routine ventilatory support, individuals with
DMD survive for many years, but peak vital capacity is still likely to be a prognostic
factor. The use of steroid therapy has tended to increase duration of time that
Duchenne boys remain ambulant. Wheelchair dependency at an older age allows
more normal growth of the lungs and spine and reduces the tendency of scoliosis,
hence preserving vital capacity further. For example, in a non-randomised study that
matched boys with DMD for age and pulmonary function at baseline, a scoliosis of
>20° occurred in 67 % of the control group but only 17 % of the steroid (deflazacort)-
treated group [3]. It is likely that this decrease in scoliosis severity and gain in lung
function lead to a survival advantage, but there have been no definitive long-term
randomised controlled trials of steroid therapy in DMD to test this hypothesis.
Sleep-disordered breathing tends to occur when VC is less than 60 % predicted
and inspiratory muscle strength less than around 30–40% predicted [4]. Ragette et al.
[4] found that vital capacity was a more sensitive and specific predictor of sleep-
disordered breathing than measures of inspiratory muscle strength. In some condi-
tions, e.g. DMD, obstructive apnoeas and hypopnoeas may be the initial predominant
Table 14.1 Neuromuscular conditions and associated respiratory features (from [1] with permission)
Secretion clearance Recurrent
Condition Respiratory failure difficulty pneumonia Progression Disease-specific features
SMA
Type 1 All by 2 years Marked All Rapid All require full-time
respiratory support
Type 2 ~40 % in childhood Early ~25 % in first 5 Slow
years
Type 3 Rare in childhood Rare in childhood Rare in childhood Slow
SMA with respiratory distress All by 6 months Marked All Rapid in first year, All require full-time
type 1 then slows. respiratory support
DMD/severe childhood onset After loss of After loss of Late Cardiomyopathy usually
limb-girdle muscular dystrophy ambulation ambulation occurs after respiratory
problems but may precede
them
Facioscapulohumeral muscular When onset With infantile onset With infantile onset Slow Severe infantile onset type is
dystrophy <20 years frequently associated with
sensorineural deafness
14 Ventilator Support in Children with Neuromuscular Disorders
Congenital muscular dystrophy

All types Any age depending Any age depending Any age depending Slow
on severity on severity on severity
Ullrich 70 % in Mild Infrequent Proximal contractures with
adolescence marked distal laxity
Rigid spine muscular dystrophy Early while Mild Infrequent Hypoventilation may occur
ambulation in ambulant children with
preserved relatively preserved vital
capacity
(continued)
285
286

Secretion clearance Recurrent
Condition Respiratory failure difficulty pneumonia Progression Disease-specific features
Congenital myopathy
Central core Uncommon except Uncommon Uncommon Slow Susceptible to malignant
in severe recessive hyperthermia
type
Minicore Early while
ambulation
preserved
Nemaline Early in severe In severe form In severe form Slow
neonatal form, mild
later onset form
may develop early
while ambulation
preserved
Myotubular 85 % in severe In severe form In severe form Slow Ophthalmoplegia, rare
X-linked form coagulopathy and liver
haemorrhage
Fibre type disproportion Depends on Uncommon Uncommon
genotype
Myotonic dystrophy
Myotonic dystrophy 1 Common in severe Common in severe Common in severe Initial improvement, Prominent learning difficulty,
congenital onset, congenital onset congenital onset later slow somnolence, central
usually improves deterioration hypoventilation
Myotonic dystrophy 2 Uncommon Uncommon Uncommon
Congenital myasthenic Often in neonatal Especially during Possible if Weakness may fluctuate,
syndromes period, may occur inter-current weakness severe episodic apnoea in some.
during inter-current illnesses and persistent Congenital stridor in those
illnesses with DOK7 mutations.
A.K. Simonds
Mitochondrial myopathy Common Possible Possible Acute deterioration
possible
Charcot-Marie-Tooth With severe early With severe early With severe early Stridor, especially with
onset, especially onset onset GDAP1 mutation
with GDAP1
mutation
Pompe Infantile onset, Infantile onset Infantile onset Infantile rapid, late Variable relationship between
may be early in onset slow motor and respiratory
later onset while progression
ambulation
preserved
DMD Duchenne muscular dystrophy, SMA spinal muscular atrophy
14 Ventilator Support in Children with Neuromuscular Disorders
287
288 A.K. Simonds
Fig. 14.1 Natural history

of respiratory
decompensation in
neuromuscular disease
problem, which then evolves into nocturnal hypoventilation. The latter first occurs in
rapid eye movement (REM) sleep due to loss in intercostal and upper airway muscle
tone and the decrease in chemosensitivity and arousal response which occurs during
this stage and then progressing to non-rapid eye movement (NREM) sleep (which
occupies the majority of sleep time) once vital capacity is <40 % predicted. If noc-
turnal hypoventilation is unaddressed, daytime ventilatory failure ensures when vital
capacity is less than 30 % predicted (Fig. 14.1).
The clinical course is often punctuated by chest infections which become pro-
tracted as cough efficiency deteriorates. Cough can be assessed by peak cough flow
measurements and in younger children by qualitative assessment of the sound vol-
ume of cough and of descriptions of difficulty with secretions at the time of respira-
tory tract infections.
Bulbar muscle weakness is common in type 1 SMA and myotubular myopathy
and may occur in some variants of CMD but is a late feature in DMD. Severe bulbar
weakness with recurrent aspiration is a contraindication to non-invasive ventilation,
although mild to moderate levels of swallowing impairment may be successfully
managed with a combination of non-invasive ventilation, cough assistance and per-
cutaneous gastrostomy feeding. It should be noted that swallowing function may
deteriorate at the time of a chest infection even in patients who had not had prior
difficulty with aspiration. Assessment of swallowing is therefore best carried out
after a chest infection has resolved, where possible, unless the evidence for marked
bulbar weakness is overwhelming, for example, choking when eating meals.
14 Ventilator Support in Children with Neuromuscular Disorders 289
Assessment of Respiratory Function in Neuromuscular

Disorders
Clinical assessment of symptoms, examination and measurement of lung function,

measurement of cough peak flow and evaluation for the presence of sleep-disordered
breathing are key in children with neuromuscular disease [1]. Symptoms of noctur-
nal hypoventilation are typically non-specific and can include restlessness and
sweating at night, snuffly or very quiet breathing, a requirement for extra turning in
bed at night, vivid dreams, sudden wakening from sleep, anorexia for breakfast,
poor concentration at school/college especially in the morning, daytime lassitude
and failure to thrive.
A restrictive pattern of spirometry can be seen on pulmonary function testing
with reductions in forced vital capacity, FEV1, residual volume and total lung
capacity. Diffusing capacity of the lung for carbon monoxide (DLCO) is reduced,
but the DLCO adjusted for accessible alveolar volume is normal or supranormal.
This is caused by various permutations of reduced inspiratory muscle strength, the
presence of a thoracic scoliosis and reduced chest wall and pulmonary compli-
ance—the latter caused by micro- or macro-atelectasis. Inspiratory and expiratory
muscle strengths usually decrease in tandem, but when diaphragm strength is pre-
served, expiratory muscle weakness may predominate such as in SMA. Expiratory
muscle weakness combined with inspiratory muscle weakness leads to poor cough
efficacy and reduced secretion clearance and can be measured by cough peak flow—
values less than 270 L/min in children of approximately 10 years and above suggest
reduced cough power, and value of less than 160 L/min is associated with an
increased frequency of chest infections.
A vital capacity of less than 60 % predicted is predictive of the presence of sleep-
disordered breathing which initially occurs in REM sleep and then progresses to all
sleep stages [3]. Usually this manifests as nocturnal hypoventilation, but obstructive
hypoventilation can be seen in some conditions, e.g. DMD. Sleep studies are indicated
routinely in these children or in any with sleep-related symptoms, recurrent chest
infections (or those requiring hospitalisation for chest infections) or failure to thrive.
Scoliosis is common and will occur in virtually all those with SMA types 1 and
2 and in 70–90% of those with DMD. Scoliosis almost inevitably progresses with
the adolescent growth spurt and requirement of permanent wheelchair use. The use
of steroid therapy and preservation of standing using frames may reduce scoliosis
severity, as discussed. Scoliosis surgery is performed to prevent progression of the
curvature and achieve comfort rather than to increase lung volumes.
Assessment of swallowing function is a key part of respiratory management in
any child with neuromuscular weakness as suggested by slow feeding, choking,
aspiration and recurrent chest infections. Nutritional assessment is also crucial, and
if adequate nutrition cannot be achieved safely orally, then percutaneous gastros-
tomy placement may significantly improve quality of life and reduce respiratory
complications. This may be safely performed in children receiving NIV [5].
290 A.K. Simonds
Sleep Studies
Overnight oximetry is often used to screen for sleep-disordered breathing in

children with neuromuscular disease. A normal trace in a child who has slept
well normally excludes a significant problem, but values of arterial oxygen
saturation within the normal range can be seen occasionally in children with
mild obstructive sleep apnoea/hypopnea accompanied by mild hypercapnia. If
there is a high suspicion of sleep-disordered breathing, multichannel monitor-
ing including a measure of overnight carbon dioxide tension, e.g. transcutane-
ous CO2, is preferred.
Guidelines for respiratory and sleep study assessment are given in British
Thoracic Society recommendations and other consensus documents [1, 6, 7].
Aims of Ventilatory Support
The range of goals of ventilatory support are listed in Table 14.2. There is no evi-
dence that prophylactic use of ventilator support in asymptomatic individuals with-
out sleep-disordered breathing is beneficial; however, in some centres, children are
familiarised with NIV so that it can be used intermittently during acute chest infec-
tions or in the perioperative period during intercurrent surgery (e.g. correction of
scoliosis). NIV may also reduce the work of breathing during physiotherapy [8] and
allow the child to complete longer periods of secretion clearance and may be valu-
able for acute use in children with apnoeic crises secondary to some congenital
myasthenia genotypes [9]. Use of NIV for short periods during the day may improve
chest wall compliance and reduce some chest wall deformities such as bell-shaped
chest in type 1–2 SMA.
Table 14.2 Aims when considering introduction of non-invasive ventilation

Goals of non-invasive ventilation
1. Control of nocturnal hypoventilation
2. Control of diurnal ventilator failure
3. Treatment of chest infections
4. Use perioperatively during intercurrent procedures, e.g. scoliosis surgery, insertion of
percutaneous gastrostomy
5. Use to aid chest wall development and reduce chest wall deformity
6. Application to palliate symptoms, e.g. breathlessness in end-stage disease
Timing of Initiation of Nocturnal NIV
While previously daytime hypercapnia was used as an indication for nocturnal NIV,
most authorities now suggest the introduction of NIV once symptomatic nocturnal
hypoventilation has developed. This is based on one randomised controlled trial
[10] in which patients, including young patients, with a variety of neuromuscular
disorders and nocturnal hypoventilation but normal daytime PaCO2 received either
nocturnal NIV or follow-up without NIV. Ninety percent of those in the control
follow-up group developed preset criteria for initiation of NIV (e.g. daytime hyper-
capnia, recurrent chest infections, symptomatic nocturnal hypoventilation), and
70 % fulfilled these criteria within 1 year. This suggests that once individuals
develop nocturnal hypoventilation, daytime ventilatory decompensation is likely to
ensue in the next 12–24 months, and so NIV can be introduced in a planned and
timely manner, rather than precipitously during acute chest infection. The findings
of this study are also supported by clinical experience. In a series of 30 children
(mean age of 12.3 years and SD of 4.1 years) with inherited neuromuscular disease,
NIV normalised nocturnal PCO2 and SaO2 (which reduced arousals from sleep), the
respiratory disturbance index and the heart rate and improved sleep architecture
[11]. In a subgroup in which NIV was then withdrawn for three nights, a rapid dete-
rioration in nocturnal gas exchange occurred which was corrected once NIV was
restarted. Around half the children in this study had nocturnal hypoventilation
alone, and the remainder had daytime ventilatory failure. Improvements occurred in
both groups. In other observational studies, improvements in quality of life and
nocturnal symptoms are reported [12, 13].
Choice of Ventilator and Mode
There are still limited numbers of ventilators designed for long-term home use in
children with neuromuscular disease. The choice will depend on the age and size of
child, tracheostomy or non-invasive ventilation, degree of ventilator dependency
and pathophysiology. The challenge for manufacturers is to create a ventilator that
can deliver small tidal volumes at high frequency. The device should also be capable
in spontaneous mode of being able to detect the onset of the child’s inspiratory
effort and deliver in response a preset pressure or volume with a time delay in keep-
ing with the child’s respiratory rate. Trigger delays of >100 ms are inadequate as
patients will have completed inspiration before the delivery of the preset pressure or
volume.
Continuous positive pressure airway therapy (CPAP) may be sufficient in chil-
dren with obstructive apnoeas, upper airway obstruction due to laryngomalacia and/
or mild nocturnal gas exchange problems due to SMA, but NIV will be required in
children with significant nocturnal hypoventilation and obstructive hypopnoeas. In
essence therefore, CPAP is indicated to maintain airway patency and will reduce the
292 A.K. Simonds
work of breathing to some degree, but where there is significant hypoventilation,

NIV is the correct choice.
During pressure support ventilation (PSV), each breath is triggered and termi-
nated by the patient, so the patient determines the respiratory rate, inspiratory dura-
tion and tidal volume. Tidal volume is not predetermined as it will depend on the
inspiratory positive airway pressure (IPAP) set, the inspiratory effort and respiratory
rate of the patient and mechanical properties of their lungs and chest wall. In prac-
tice, a back-up respiratory rate is added to prevent hypoventilation during sleep
when respiratory rate falls. Bi-level positive airway pressure (BiPAP) ventilation
supplies IPAP together with positive pressure in expiration (EPAP). The presence of
EPAP may help splint the upper airway open through the expiratory part of the
cycle, increase functional residual capacity by recruiting alveoli, reduce work of
breathing and allow easier triggering of the NIV when intrinsic positive end-
expiratory pressure (PEEP) exists. By contrast, volume-targeted ventilators deliver
a preset tidal volume, but the airway pressure generated by this volume is not pre-
dictable, and leaks are less well compensated for than with pressure preset ventila-
tors. Some ventilator models now offer a combination of modes (hybrid device) in
which bi-level positive pressure is delivered with an assured tidal volume or minute
volume back-up. The place of these hybrid modes in children is not clear, as studies
comparing their advantages and disadvantages with standard modes have not been
carried out. One trial [14] in young and older neuromuscular patients has, however,
shown that stage 1 sleep was reduced using hybrid mode compared to standard bi-
level mode, suggesting that patients fell asleep quicker, although control of noctur-
nal hypoventilation by the hybrid machine was comparable to that achieved with the
conventional bi-level ventilator.
Fauroux et al. [15] have carried out a bench study simulating six different paediatric
ventilatory profiles which included neuromuscular disease, upper airway obstruction,
cystic fibrosis and central apnoeas. When using 17 different ventilators recommended
for long-term use in children, the results showed significant variability in performance,
which depended on whether flow or pressure trigger sensing was used, the patient pro-
file and the type of circuit. Differences were observed between the preset and measured
airway pressure and tidal volume as assessed by ventilator or external bench monitoring.
Leaks resulted in failure to trigger or auto-triggering. This work therefore highlights the
need for ventilators to be carefully assessed when applied to each individual. Clearly
trigger problems can be ameliorated by setting a high back-up rate, but improvements in
ventilators are being made with some models capable of providing continuing feedback
on triggering in the presence of leak and detection of weak patient effort versus detection
of regular patient effort, in an attempt to smooth these problems.
Interface
As with ventilators, specifically designed masks suitable for children have only
recently been introduced into the market. These are designated as nasal mask, oro-
nasal (facial) mask, nasal pillows, oral interface or helmet.
Nasal masks are more frequently used. In some children, an oronasal mask is
required to overcome mouth leak—here there is a risk of vomiting and aspiration so
great care should be exercised. True aspiration resulting from use of an oronasal
mask is however rare. Vented masks are used with CPAP therapy; non-vented masks
are used for NIV circuits where there is an exhalation valve.
Short- and long-term major complications from interfaces include facial pressure
sores which most frequently occur over the bridge of the nose and forehead where
there is little subcutaneous tissue. The incidence of pressure sores can be reduced by
using customised masks [16], careful placement of mask and attention to mask strap
pressure, and rotating interfaces such that each impinges on different areas of the face.
Mid-facial hypoplasia has been reported in children using NIV or CPAP at night
for long term. Risk factors appear to be age at first use of NIV (with younger chil-
dren having the worse outlook), duration of use and facial muscle weakness.
Fauroux and colleagues [16] found that substitution of a customised mask could
help this problem too. Careful follow-up with yearly lateral cephalic X-ray may be
helpful in establishing the development of mid-facial hypoplasia.
Titrating Settings
In all situations, NIV should be titrated to optimise the control of alveolar hypoven-
tilation during sleep such that values of arterial oxygen saturation and PCO2 by
night and during the day are normal. Best practice guidelines for NIV setting adjust-
ments have been drawn up [17]. These can only set out broad principles as therapy
must be adapted to the individual. In general, a minimum expiratory positive airway
pressure level of 4 cm H2O in bi-level devices is required to flush out interface dead
space, and in children less than 12 years, a maximum inspiratory positive airway
pressure of <30 cm H2O or pressure support of <20 cm H2O is indicated. Starting at
a low IPAP level, e.g. around 8 cm H2O, and titrating upwards helps. Adjusting
IPAP to central apnoeas and hypoventilation and EPAP to obstructive events during
polysomnography or respiratory polygraphy, is recommended. Additionally adjust-
ing IPAP to PCO2 overnight measurement, e.g. transcutaneous CO2 (TcCO2), can be
very useful, provided that the TcCO2 monitor has been validated against arterial
PCO2 measurements and the time course of response is understood. End tidal CO2
(EtCO2) is difficult to use in patients receiving NIV as delivered flow within the
mask limits accuracy of readings. Ventilators should be used in spontaneous/timed
mode (i.e. with a timed back-up rate) in all patients with nocturnal hypoventilation
or central apnoeas. A back-up rate of one to two breaths below spontaneous breath-
ing rate while awake is usually helpful. Ventilator set-up is usually done during a
hospital stay, but in children with stable nocturnal hypoventilation, outpatient set-up
with home monitoring may be feasible, equally efficacious and acceptable to child
and parents [18].
Supplemental oxygen therapy is rarely required in children with pure alveolar
hypoventilation; however in a clinical scenario of atelectasis or pulmonary hypoplasia
294 A.K. Simonds
in which SaO2 remains less than 93 % with optimal control of PCO2 and adjustment of
EPAP, O2 should be added to normalise SaO2. It should be entrained proximally into
the ventilator circuit or through the ventilator itself if an O2 mixer is present.
Adjustment of O2 therapy should always be accompanied by PCO2 monitoring.
Monitoring Efficacy of Ventilator Support
As indicated above, respiratory polygraphy together with TcCO2 measurements will

indicate whether alveolar ventilation has been controlled. Information downloaded
from ventilator software provides important additional information on mask leak,
number of residual apnoeas and hypopnoeas and adherence to therapy. It should be
borne in mind that the software which calculates apnoeas and hypopnoeas in patients
receiving NIV is not the same as that calculating respiratory events during diagnos-
tic studies; therefore although comparison on and off treatment is important, the
results are not completely comparable. Janssens et al. [19] have provided a helpful
algorithm to diagnose problems related to ventilator efficacy. Home telemonitoring
is now available with some ventilator systems and may be helpful in the initial
period of therapy as the child adjusts to the device and provides feedback to parents
and also long term in heavily ventilator-dependent children.
Acute Chest Infections
While there is evidence that the use of NIV reduces the frequency of chest infec-
tions in neuromuscular disorders, these remain one of the commonest complica-
tions. Infections may be triggered by aspiration from bulbar weakness, and even in
those in whom aspiration has not occurred, it is likely that swallowing efficacy is
reduced during acute infections. There is also good supportive evidence that cough
peak flow falls during an acute infection. It should also be remembered that cardio-
myopathy is common in some conditions (e.g. DMD, Emery-Dreifuss MD, sarco-
glycanopathies) and pulmonary shadowing may be due to pulmonary oedema or a
combination of pulmonary consolidation and oedema. Measurement of brain natri-
uretic peptide (BNP), echocardiography and chest X-ray are helpful in distinguish-
ing these conditions. Creatine phosphokinase (CPK) may be raised and there may
also be chronically mildly elevated troponin levels—although not at a level to sug-
gest cardiac ischaemia. NIV should be used more intensively during a chest infec-
tion and especially during physiotherapy. Supplemental O2 therapy may need to be
entrained to normalise SaO2. As described below, if cough is inefficient, cough
assistance with insufflation-exsufflation may improve secretion clearance markedly.
Considerations for dealing with established ventilator users when admitted with a
chest infection are shown in Fig. 14.2.
Use NIV intensively
Carry out physiotherapy while patient uses NIV as cough enhanced and patient less likely
to tire
Use cough in-exsufflator
Add supplememtal oxygen therapy to NIV to maintain SaO2 >93%
It may help to increase IPAP by 2-5 cmH2O incrementally according to PCO2 level and
EPAP by 1-2 cmH2O to a maximum of say, 7 cmH2O. Increasing back-up rate to just
below spontaneous breathing rate will improve CO2 control
If patient becomes near 24 hour NIV dependent during an acute episode consider
alternating masks to prevent pressure sores and alternate day and night between 2
ventilators of the same model, so as not to run ventilator continuously for days
Optimise humidfication to help mobilise secretions
Consider bronchodilator therapy if evidence of asthma, bronchial hyper-reactivity or
wheezy bronchitis
Consider steroid therapy if evidence of asthma, bronchial hyper-reactvity or wheezy
bronchitis
Ensure hydration and nutrition maintained.
Fig. 14.2 Clinical considerations to optimise NIV during an acute chest infection in neuromuscu-
lar disease patient
Clearly all other sensible standard respiratory measures should be carried out
including use of broad-spectrum antibiotics, hydration and attention to nutri-
tion. Nebulised bronchodilator is helpful in wheezy children and those with
asthma, but there is no evidence to support routine use in the absence of evi-
dence of reversible airflow obstruction. Humidification of the ventilator is often
helpful in reducing sputum viscosity.
296 A.K. Simonds
Cough Assistance
Assistance with secretion clearance can be provided by the physiotherapy techniques

of secretion mobilisation, postural drainage and manual techniques such as chest
percussion and shaking. Cough can also be augmented by breath stacking using an
ambu bag-type device with one-way valve. If these are not sufficient, then the cough
insufflator-exsufflator (of which there are several models now on the market) can be
effectively combined with NIV or used alone in children with marked expiratory
muscle weakness but who do not yet fulfil indications for NIV [20].
Cough efficacy can be assessed by cough peak flow and maximum inspiratory
and expiratory pressures. The insufflator-exsufflator provides a large positive pres-
sure breath to augment inspiration and then cycles manually or automatically to
negative pressure to augment cough and suck secretions into upper airway and
mouth. Setting up the cough machine is well described in references [20, 21].
Progression to Tracheostomy Ventilation
The indications for tracheostomy ventilation are given in Table 14.3. The most
common indication is bulbar weakness resulting in aspiration or 24-h ventilatory
dependency in a younger child. Children in the group requiring long-term tracheos-
tomy ventilation are more likely to have a diagnosis of type 1 SMA, myotubular
myopathy or other severe myopathies such as nemaline or a high cervical cord
lesion. Progression from NIV to trachesotomy ventilation is relatively uncommon
in childhood but is more frequent in Duchenne muscular dystrophy patients and
those with other progressive conditions.
An advance care plan detailing choices regarding tracheostomy ventilation and
resuscitation preferences of the family is vital and should be discussed regularly and
updated according to progress.
Table 14.3 Indications for Indications for tracheotomy ventilation

tracheotomy ventilation
• Severe bulbar weakness leading to
aspiration
• Upper airway problems limiting
delivery of NIV
• Failure to control ventilation with
non-invasive mode
• Intractable interface problems
• Near 24-h ventilator dependency,
especially in early infancy
• Patient/family preference
Palliative NIV/Ethics
Palliative care is discussed in Chap. 5. NIV may be used to palliate symptoms and
facilitate discharge to home in some children with a very poor prognosis. In a series
of these children with type 1 SMA, NIV was used not to extend prognosis but to
allow transfer from hospital to home so the child could spend the last months with
the family [22]. Careful discussion with the family on the goals and realistic possi-
bilities of therapy and expectations is key. It is important that continuing assessment
is carried out as if NIV is not achieving those goals, e.g. reducing breathlessness, it
can be withdrawn and the management directed to other methods of palliative care,
such as opiates, when appropriate.
References
1. Hull J, Aniapravan R, Chan E, Chatwin M, Forton J, Gallagher J, et al. British Thoracic Society
guideline for respiratory management of children with neuromuscular weakness. Thorax.
2012;67(i):1–40.
2. Rideau Y, Jankowski W, Grellet J. Respiratory function in the muscular dystrophies. Muscle
Nerve. 1981;4:155–64.
3. Alman BA, Raza SN, Biggar WDB. Steroid treatment and the development of scoliosis in
males with Duchenne muscular dystrophy. J Bone Joint Surg Am. 2004;86:519–24.
4. Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disor-
dered breathing in primary myopathies. Thorax. 2002;57:724–8.
5. Chatwin M, Bush AB, Macrae DJ, Clarke SA, Simonds AK. Risk management protocol for
gastrostomy and jejunostomy insertion in ventilator dependent infants. Neuromusc Disord.
2013;23:289–97.
6. Finder J, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaconne ST, et al. ATS consensus state-
ment: respiratory care of the patient with Duchenne muscular dystrophy. Am J Respir Crit
Care Med. 2004;170:456–65.
7. Wang CH, Finkel RS, Bertini E, Schroth M, Simonds A, Wong B, et al. Consensus statement
for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22:1027–49.
8. Fauroux B, Boule M, Lofaso F, Zerah F, Clement A, Harf A, et al. Chest physiotherapy in cystic
fibrosis: improved tolerance with nasal pressure support ventilation. Pediatrics. 1999;103, E32.
9. Robb SA, Muntoni F, Simonds AK. Respiratory management of congenital myasthenic syn-
dromes in childhood. Neuromusc Disord. 2010;20(12):833–8.
10. Ward SA, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive
patients with daytime normocapnia. Thorax. 2005;60:1019–24.
11. Mellies U, Ragette R, Schwake C, Boehm H, Voit T, Teschler H. Long-term noninvasive ven-
tilation in children and adolescents with neuromuscular disorders. Eur Respir
J. 2003;22:631–6.
12. Wallgren-Pettersen C, Bushby K, Mellies U, Simonds AK. Ventilatory support in congenital
neuromuscular disorders—ongenital myopathies, congenital muscular dystrophies, congenital
myotonic dystrophy and SMA II. Neuromusc Disord. 2004;14:56–69.
13. Mellies U, Dohna-Schwake C, Stehling F, Voit T. Sleep disordered breathing in spinal muscu-
lar atrophy. Neuromusc Disord. 2004;14:797–803.
14. Jaye J, Chatwin M, Dayer M, Morrell MJ, Simonds AK. Autotitrating versus standard nonin-
vasive ventilation: a randomised crossover trial. Eur Respir J. 2009;33:566–71.
298 A.K. Simonds
15. Fauroux B, Leroux K, Desmarais G, Isabey D, Clement A, Lofaso F, et al. Performance of

ventilators for noninvasive positive pressure ventilation in children. Eur Respir
J. 2008;31:1300–7.
16. Fauroux B, Lavis J-F, Nicot F, Picard A, Boelle P-Y, Clement A, et al. Facial side effects dur-
ing noninvasive ventilation in children. Int Care Med. 2005;31:965–9.
the sleep center adjustment of noninvasive positive pressure ventilation in stable chronic alveo-
lar hypoventilation syndromes. J Clin Sleep Med. 2010;6:491–509.
18. Chatwin M, Ward S, Nickol AH, Polkey MI, Simonds AK. A randomised trial of outpatient
versus inpatient initiation of non-invasive ventilation (NIV) in nocturnal hypoventilation due
to neuromuscular and chest wall disease. Eur Respir J. 2004;24:476s.
19. Janssens JP, Borel J-C, Pepin J-L, on behalf of SomnoNIV Group. Nocturnal monitoring of
home non-invasive ventilation: the contribution of simpl tools such as pulse oximetry, capnog-
raphy, built-in ventilator software and autonomic markers of sleep fragmentation. Thorax.
2011;66(5):438–45.
20. Chatwin M. How to use a mechanical insufflator-exsufflator ‘cough assist machine’. Breathe.
2008;4:320–9.
21. Chatwin M, Ross E, Hart N, Nickol A, Polkey MI, Simonds AK. Cough augmentation with
mechanical insufflation/exsufflation in patients with neuromuscular weakness. Eur Respir
J. 2003;21:502–8.
22. Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and
mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child.
2011;96:426–32.
Chapter 15
Long-Term Ventilator Support
in Bronchopulmonary Dysplasia
Sharon A. McGrath-Morrow and J. Michael Collaco
Epidemiology of Bronchopulmonary Dysplasia
Definition and Risk Factors: Bronchopulmonary dysplasia (BPD) is a common

cause of chronic lung disease in infants born prematurely (<37 weeks gestation) and
is associated with high morbidity, particularly during the first 2 years of life [1]. The
diagnosis of BPD is given to preterm infants who require supplemental oxygen for
at least the first 28 days of life [2]. Infants who are diagnosed with severe BPD have
an oxygen requirement of greater than 30 % and/or the need for positive pressure
ventilation at 36 weeks post-conceptual age or at discharge [2]. Infants with severe
BPD are most likely to have persistent respiratory failure requiring home invasive
ventilation. Although BPD is more likely to occur in infants born at very early ges-
tational age, other factors have been shown to independently predict the develop-
ment of BPD in infants born between 22 and 30 weeks gestation. These factors
include birth weight, race/ethnicity, sex, and the need for ventilatory support or
elevated FiO2 within the first 28 days of life [3].
Prevalence: Preterm birth is a common occurrence in the United States with
11.72 % of live births being premature in 2011. Although this is the lowest rate in
more than a decade, it remains higher than in prior decades [4]. In addition, 1.44 %
of infants in 2011 were born at very low birth weight (VLBW <1500 g) compared
to 1.27 % in 1990, and it is VLBW infants who are at highest risk of developing
BPD. More of these high-risk infants are surviving with ongoing advances in
neonatology with infant mortality rates reaching an all time low of 6.05 deaths per
S.A. McGrath-Morrow, M.D., M.B.A. • J.M. Collaco, M.D., M.P.H. (*)

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of
Medicine, 200 N. Wolfe St., David M. Rubenstein Building, Baltimore, MD 21287, USA
e-mail: mcollac1@jhmi.edu

300 S.A. McGrath-Morrow and J.M. Collaco
1000 live births in 2011 [4]. The decrease in infant mortality in VLBW infants is
associated with an increase in the number of technology-dependent children in the
home environment.
Tracheostomy Placement and Home Ventilator Support in Infants and
Children with BPD: There are limited data regarding rates of home ventilatory
support in infants and children with BPD, and certainly VLBW infants are at high-
est risk. In retrospective studies examining a NICU cohort (n = 10,428), it was
reported that 0.7 % of the NICU cohort had tracheostomies, with a 2.8 % tracheos-
tomy placement rate in the subset of VLBW infants (n = 636) [5, 6]. Estimates of the
incidence of infants/children with BPD requiring positive pressure ventilation vary.
For example, a recent study from Riley Children’s Hospital estimated the incidence
to be 4.77 per 100,000 live births in 2010 with a median age of liberation from home
ventilator support of 24 months of age [7]. Given approximately 4 million live births
in the United States in 2010, it can be extrapolated that there are approximately 400
infants/children with BPD on home ventilation at any given time. However, other
studies suggest a higher incidence. The Healthcare Cost and Utilization Project
reported that 1500 infants, mostly preterm, received tracheostomies in 2008 [8]. In
another study, Boroughs and Dougherty reported that an estimated 8000 children in
the United States are receiving home invasive ventilation [9]. Based on their 2011
data from the Ventilator Assisted Children’s Home Program in Pennsylvania, they
reported that 36 % of ventilator-dependent children in their program were diagnosed
with chronic lung disease and that 77 % of these children had the diagnosis of BPD
[9]. Extrapolating from the Pennsylvania data, it can be estimated that approxi-
mately 2000 infants and children with BPD may be receiving home invasive ventila-
tion at any given time in the United States.
In the BPD population, there are also limited data regarding risk factors associ-
ated with the requirement for home ventilatory support. One study examined risk
factors associated with tracheostomy placement in the NICU. They found that lon-
ger mean duration of intubation (128.8 days vs. 44.5 days), a higher median number
of intubation events (11.5 vs. 6.0), and a longer initial hospitalization (156.9 days
vs. 88.9 days) were associated with tracheostomy placement in 18 VLBW infants
compared to 36 VLBW control infants who did not require tracheostomy [6]. As all
children who require home invasive ventilation have tracheostomies, the risk factors
for home ventilator support may be similar to risk factors for tracheostomy place-
ment in the BPD population.
Mortality: Risk of death in children on home mechanical ventilation is high
despite current monitoring technology, with a mortality rate of 18.6 % among
infants and children with BPD at one institution [7]. Avoidable causes for this
high mortality may include poor training of caregiver and home support staff
leading to inadequate responses in emergency situations, particularly with tra-
cheostomy management. In a retrospective study of 228 children on home
mechanical ventilation, Edwards et al. reported 47 deaths (21 % mortality rate)
with 49 % being unexpected deaths including 19 % of deaths related to trache-
ostomy complications [10].
15 Long-Term Ventilator Support in Bronchopulmonary Dysplasia 301
Respiratory Phenotypes in the Preterm Child with BPD
BPD is formally defined on the basis of oxygen requirement at specific post-

conceptual time points, but this measure does not capture the spectrum of respira-
tory phenotypes that encompass BPD. Infants and children may have varying
combinations of parenchymal, vascular, small airway and large airway disease. The
contributions of these disease components are often difficult to assess. Furthermore,
the combination of the disease components may change with time and lung growth.
The protean manifestations of BPD frequently require tailoring of ventilator man-
agement and other respiratory care on the individual level. For these reasons fre-
quent assessment of respiratory support requirements should be done in infants and
children on home ventilator support with appropriate changes as warranted. These
changes may be done in the home setting in children who are relatively stable and
in an acute or subacute setting in children who are less stable. Nevertheless, during
acute respiratory illnesses, changes in ventilatory support should always be done in
an acute care setting due to the diversity of lung phenotypes and complexity of ven-
tilating these patients when sick.
Parenchymal Disease: The lung parenchymal disease found in children with BPD
often manifests as a paucity of alveoli due to severe prematurity and impaired post-
natal alveolar growth. Unlike children with neuromuscular disease and respiratory
failure, children with severe BPD and respiratory failure can often be weaned off
mechanical ventilation if postnatal lung growth takes place. Since the majority of
postnatal alveolar lung growth occurs during the first 2 years of life, it is imperative
that lung injury be minimized during this critical period of lung development [11].
Impaired alveolar growth often occurs due to barotrauma from mechanical ven-
tilation, exposure to hyperoxia, and respiratory/systemic infections. Poor nutrition
in the neonatal period may also be associated with the development of BPD [12].
In addition, the severity of BPD may significantly worsen in children who aspirate
due to impaired swallowing and gastroesophageal reflux [13]. To maximize alveolar
growth during the first years of life, attention to preventing ongoing lung insults and
maintaining good nutrition is critical. In addition to impaired alveolar growth, many
infants and children with severe BPD may have significant cystic airspace disease.
The presence of cystic disease may lead to regional heterogeneity of time constants
for ventilation, which can manifest as areas of hyperinflation and atelectasis simul-
taneously within different regions of the lung.
Vascular Disease: The recognition of vascular disease in preterm infants with BPD,
manifested as pulmonary hypertension (PH), is an emerging phenomenon. Thebault
and Abman were among the first to describe alveolar hypoplasia in extremely pre-
term infants with chronic lung disease [14]. This “new BPD” pathology was felt to
be due to a variety of factors, including decreased vascular endothelial growth factor
(VEGF) and other molecular pathways involved in alveolar growth [15, 16]. Abman
and colleagues also recognized that a subset of infants with severe BPD were
at increased risk for the development of PH and associated higher mortality [17].
Risk factors for the development of PH in children with BPD include very early
gestational age, oligohydramnios, and infants who are small for gestational age
[18]. There may also be genetic and epigenetic factors that contribute to the devel-
opment of PH in infants with severe BPD.
Infants and children with BPD and PH may have a fixed and reactive component
to their PH. The fixed component is a function of an underdeveloped vascular bed
with limited volume. Ideally, with optimal lung growth, this fixed component
improves with time. The reactive component may be responsive to vasodilator ther-
apies such as oxygen, nitric oxide, and sildenafil but also may be subject to vasocon-
striction by relative hypoxic events, such as respiratory infections or anesthesia
induction [19, 20]. The clinical manifestations of pulmonary hypertension may
range from subtle evidence of right heart strain or increased respiratory effort/oxy-
gen requirements to more severe presentations with cardiorespiratory failure.
Although cardiac catheterization is the gold standard for assessing for PH, in prac-
tice echocardiograms are frequently used along with non-approved biomarkers,
such as brain natriuretic peptide (BNP) and its precursor, pro-BNP [21]. Guidelines
for the use of pharmacological agents in pediatric pulmonary hypertension were
published in 2015 with limited evidence in BPD [22]. Improving lung growth, mini-
mizing ventilation perfusion mismatch, and reducing episodes of hypoxia and
hypercarbia may improve outcomes [18, 23]. In children with PH including those
receiving home invasive ventilation, attention to higher oxygen saturations should
be given as oxygen is a pulmonary vasodilator. It has been recommended that chil-
dren with BPD and PH should maintain oxygen saturations above at least 92 % to
minimize pulmonary vasoconstriction [21, 22, 24–26].
Small Airway Disease: Infants with severe BPD commonly have small airway dis-
ease as demonstrated by pulmonary function testing (PFT) [27], and it has been
reported that these pulmonary function abnormalities frequently persist into later
childhood and adult life [28]. In clinical practice, infant PFTs are infrequently uti-
lized owing to limited availability at tertiary care centers as well as the sedation
risks associated with conducting these tests.
Children with BPD on chronic mechanical ventilation often have evidence of
severe air trapping on chest radiographs (Fig. 15.1). Inflammation is believed to
play a major role in the development of BPD [29] and may lead to reduced small
airway flows. However, optimal regimens of anti-inflammatory treatments to mini-
mize BPD development have not been well established. In the NICU, the use of
systemic anti-inflammatory medications has been controversial due in part to a
reported association between cerebral palsy and early use of dexamethasone in pre-
term infants with respiratory failure [30]. In the BPD child on home ventilation,
intermittent and limited use of systemic glucocorticoids may improve mucous plug-
ging and inflammation during acute pulmonary exacerbations. Although use of
inhaled steroids has not been found to reduce prevalence of BPD or the risk of
short-term acute respiratory outcomes in the NICU [31], inhaled corticosteroids as
a maintenance medication may be useful in BPD children with significant small
airway pathology. The adequacy of inhaled particle deposition into the small air-
ways of infants with BPD is unknown.
Fig. 15.1 Chest

radiograph of a toddler
with severe
bronchopulmonary
dysplasia demonstrating
hyperinflation and
significant chronic changes
Children with BPD may also have fixed airway obstruction based on dysnaptic
airway growth [32]. This fixed airway obstruction may account for the component
of nonreversible airway obstruction frequently seen in children with severe BPD
and may not be amenable to bronchodilator therapy [33].
Large Airway Disease: A subset of children with severe BPD may have a compo-
nent of large airway disease due to malacia of the trachea and bronchi. This is more
commonly seen in children who required high-pressure support while in the
NICU. Preterm infants with vascular rings may also have significant compression
of the large airways even after surgical correction. Besides wheezing unresponsive
to beta-agonist therapy, infants and children with significant malacia may experi-
ence sudden, profound desaturations that may require resuscitation in severe cases.
The use of higher positive end-expiratory pressure (PEEP) may be beneficial in
these children with large airway compromise and respiratory failure but also carries
the risks of hyperinflation and pneumothoraces.
Ventilator Management in the Preterm Child

with Bronchopulmonary Dysplasia
Noninvasive Ventilation: The role of noninvasive ventilation for BPD outside of an

inpatient setting is extremely limited owing to the paucity of FDA-approved medi-
cal devices for outpatient use for infants.
Invasive Ventilation: The following sections will primarily focus on issues unique
to BPD as general requirements for home invasive ventilation will be covered in
more detail in other chapters.
Ventilator Strategies: Typically in the home setting, most infants with BPD on home
ventilators are either on (i) SIMV mode with pressure control/pressure support,
(ii) CPAP mode with pressure support, or (iii) CPAP only. Unlike children with
neuromuscular disease and chronic ventilatory failure, volume modes of ventilation are
infrequently used in children with BPD owing to the perceived risk of barotrauma.
Although there are no BPD-specific guidelines regarding home ventilation, clinical
practice guidelines regarding pediatric chronic home invasive ventilation were pub-
lished in 2016 and focus on discharge criteria, training, and equipment necessary for
safe ventilation in the home [34]. The strategies used to ventilate a child in chronic
respiratory failure with BPD will likely need to be modulated based on the presenting
combination of respiratory phenotypes. In general, it is advisable to stabilize ventilator
settings in the NICU setting or subacute inpatient setting prior to initial discharge to home.
In contrast to the treatment of acute respiratory failure in the neonatal intensive
care unit, children with BPD and chronic respiratory failure may require larger tidal
volumes, longer inspiratory and expiratory times, and slower respiratory rates due
to the alveolar and airway abnormalities that are common in these children. For
instance, these children often exhibit hyperinflation due to small airway disease and
may require longer expiratory times (Fig. 15.1). Children with a component of large
airway malacia often require a higher PEEP to maintain airway patency. Assessment
of malacia may require evaluation by an otolaryngologist or pulmonologist using
flexible bronchoscopy to titrate airway pressures under direct visualization.
Dynamic computed tomography can also be helpful in assessing malacia where this
technology is available [35]. With regard to parenchymal disease, children with
alveolar disease often require higher FiO2. Children with cystic changes and regional
airspace heterogeneity may also require longer inspiratory and expiratory times.
Patients with pulmonary hypertension may require increased ventilator and oxygen
support during pulmonary hypertensive crises [18], which may be triggered by aspi-
ration, respiratory infections [19], or anesthesia [20].
Supplemental Oxygen Therapy: There are no specific guidelines regarding what
FiO2 setting is acceptable for hospital discharge, but in practice FiO2 >30–40 % is dif-
ficult to maintain in the home setting due to the large amounts of oxygen required
owing to ventilator flow. Furthermore, patients requiring an FiO2 >30–40 % are likely
not stable enough for discharge. There are no specific guidelines for goal oxygen satu-
rations for preterm infants in the outpatient setting. At sea level, it may be beneficial
to maintain saturations ≥92 % to promote neurodevelopment and lung/somatic
growth. For preterm infants with pulmonary hypertension, it has been suggested to
maintain saturations ≥95 % once the retinal vasculature has matured [21, 24–26].
Ventilator Weaning: In contrast to many of the other pediatric respiratory or neu-
romuscular diseases that require home invasive ventilation, many infants and chil-
dren with BPD are able to be weaned from invasive ventilation over the first several
years of life. The core principle of weaning an infant or toddler from home mechan-
ical ventilation is close monitoring. This involves pulse oximetry, end-tidal carbon
dioxide measurements, and clinical observation of the patient for increased work of
breathing, tachypnea, fatigue, and central apneas. Given the mortality associated
with pulmonary hypertension (12–38 %) [26, 36–40], it may be strongly preferable
to postpone ventilator weaning until the patient’s pulmonary hypertension is
resolved or stable.
Inpatient Weaning: There are no published guidelines for ventilator weaning for
infants and children with BPD. Most commonly ventilator weaning occurs during
the day with weaning for short periods of time (15–60 min) at first, and these time
periods are gradually increased. Weaning strategies may include taking patients off
the ventilator completely, placing patients on CPAP, or a more gradual approach
with reduced settings depending on the patient’s tolerance. One approach to more
gradual ventilator weaning is to wean the rate first. Once a rate of 2–4 breaths per
minute is achieved, the patient can be transitioned to CPAP plus pressure-supported
breaths; care must be taken during this phase to monitor the patient for central
apneas as infants and children with neurological issues may be more prone to pro-
longed central apneas. Following this, the pressure support is gradually weaned
until the patient is solely on CPAP. Once this is accomplished, the patient may be
able to transition to tracheostomy collar with humidified air or oxygen, again for
short trials at first, then gradually increasing during the day while awake. Some
patients may be able to be successfully weaned from ventilator support during the
day, but may experience increased fatigue, atelectasis, poor growth, and/or central
apneas when ventilation is weaned at night, thus necessitating the use of a ventilator
at night and possibly with naps as well.
Outpatient Weaning: As opposed to weaning of supplemental oxygen, which is
typically weaned in the outpatient setting, the default location for ventilator wean-
ing for infants with BPD is the inpatient setting, either acute or subacute. However,
ventilator weaning can be successfully performed in the outpatient setting with the
appropriate family dynamics, the presence of home nursing, frequent in-office
assessments, and home end-tidal carbon dioxide monitoring. Because of the absence
of continuous clinical observation, ventilator parameter weaning in an outpatient
setting typically occurs more gradually than in an inpatient setting.
The Role of Polysomnography: For outpatient management, overnight polysom-
nography can be very useful in assessing the adequacy of ventilator settings or
safety off of a ventilator, specifically with respect to gas exchange and monitoring
for central apneas. For weaning purposes, it may be appropriate to obtain studies
after weaning is accomplished during the day but prior to instituting reduced param-
eters at night and with sleep. Obtaining studies should be considered with signifi-
cant ventilator parameter weans, with discontinuation of the ventilator, and with
capping of the tracheostomy tube. In patients with stable ventilator parameters, rou-
tine studies should be considered every 12–24 months to reassess requirements due
to changes in respiratory disease and growth. It should be recognized that not all
pediatric sleep laboratories are able to accommodate and appropriately assess ven-
tilated patients, particularly if titration during the study is desired.
Decannulation: Decannulation should ideally take place under the supervision of
an otolaryngologist. Typically, once the patient is weaned from the ventilator and
the patient is judged to be a candidate for eventual decannulation, tracheostomy
capping can be considered. Frequently, the otolaryngologist may decrease the tra-
cheostomy size prior to capping to allow for more airflow around the tracheostomy.
The first trial of capping is usually performed in an outpatient office visit under
medical observation to assess tolerance. Duration of capping while the patient is

awake is increased gradually. In our center, once the patient is tolerating capping all
day, overnight polysomnography is conducted with the tracheostomy capped to
assess for obstruction, hypoxemia, and/or hypoventilation. Although the tracheos-
tomy may have been placed for ventilation and not upper airway obstruction, pro-
viders should be aware that significant obstructive sleep apnea may be more
prevalent in the preterm population and thus may be diagnosed on studies performed
for decannulation purposes [41].
Other Home Ventilation Management Issues
Home Monitoring Equipment: Monitoring devices for preterm infants with home
ventilation are essential with a pulse oximeter at a minimum as supported by recent
pediatric ventilation guidelines [34]. Recent data for the State of Massachusetts sug-
gest that most (75 %; n = 97) pediatric patients on home invasive ventilation are
meeting this requirement [42]. A preparedness plan for electrical outages and/or
other emergencies is needed for caregivers of children who are technology depen-
dent. This includes, among other things, battery backup for essential equipment
such as the ventilator, oxygen concentrator, and pulse oximeter. Sakashita et al.
reported poor preparedness in many families with technology-dependent children in
the event of a power outage [43]. Beside the ventilator itself, a non-recording pulse-
oximeter and batteries, other guideline-recommended equipment includes a back-
up ventilator, a self-inflating bag and mask, suctioning equipment (portable), heated
humidifier, supplemental oxygen for emergency use, and a nebulizer [34].
Tracheostomies: Edwards and colleagues reported that 19 % of deaths in their
pediatric patients ventilated at home were tracheostomy related and likely all pre-
ventable [10]. Infants with BPD may be at higher risk for tracheostomy-related
complications owing to a higher risk of mucous plugging with a small tracheostomy
tube and ineffective clearance coughs. The use of secretory drying agents, such as
glycopyrrolate, may lead to tracheostomy plugging, and their use should be avoided
if possible or closely monitored if their use is required. For frequent mucous plug-
ging, pulmonary clearance techniques, such as chest physiotherapy, and the use of
scheduled inhaled beta-agonists may be very helpful. Lastly, the presence of an
artificial, potentially unstable airway in an infant or small child warrants the pres-
ence of an awake and alert caregiver at all times as recommended by pediatric home
ventilation guidelines [34].
Training: Training for at least two family members is recommended including trache-
ostomy changes/cares and ventilator management [34]. Asking caregivers to demon-
strate all cares at bedside and extended in-house stays (12–24 h) where caregivers
perform all cares are highly recommended. However, standardized education, or pro-
fessional training as is the case for home nurses, does not necessarily translate into
appropriate knowledge for emergency situations for children on home ventilators [44].
Caregivers: Given the risk of acute life-threatening events with tracheostomies, we

would strongly recommend that infants and toddlers with BPD with tracheostomies
with or without mechanical ventilation have an awake and alert caregiver at all
times. In practice, this requires licensed professional home care (e.g., registered
nurses (RN) or licensed practical nurses (LPN)) at a minimum for nights and when
family members work. All caregivers, family and professional, must be proficient
with tracheostomy management and the specific ventilator being utilized.
Medical Home: Owing to the multisystem consequences of prematurity, any infant
or child with BPD requiring home ventilation should be managed using a medical
home approach including close collaboration with the appropriate subspecialists.
Based on data from the State of Massachusetts, Graham et al. reported that pediatric
pulmonologists manage ventilators for the majority of children on home ventilators
and demonstrated a higher admission rate in the past 6 months for patients with
ventilator management by general pediatricians (47 %) vs. pediatric pulmonologists
(24 %) [42]. However, based on data from Children’s Hospital of Los Angeles, Kun
et al. reported that the frequency of pediatric pulmonary visits was not associated
with readmission [45]. It is also recommended that routine otolaryngology follow-
up should occur with any patient with a tracheostomy.
Comorbidities Affecting Ventilator Management
Aspiration: Any type of persistent aspiration, whether related to gastroesophageal

reflux, dysphagia, or the patient’s own oral secretions, can result in ongoing lung
injury leading to difficulty weaning ventilator support [13]. During ventilator wean-
ing, it may be preferable to avoid compressing gastrostomy tube feed duration or
advancing oral intake to maximize chances of success.
Gastrointestinal motility is frequently impaired in the preterm infant with BPD
and can worsen with any pulmonary exacerbation. This may result in gastric disten-
tion leading to impaired ventilation via altered respiratory mechanics. Intravenous
hydration or the use of enteral rehydration solutions may decrease gastric distention
during a pulmonary exacerbation.
Pulmonary Exacerbations: Rates of readmission are high among premature
infants on home ventilation; a recent study by Kun et al. performed at a pediatric
tertiary care center found that 39 % of patients with a history of prematurity on
home mechanical ventilation were nonelectively readmitted within 12 months of
initial discharge on ventilation (n = 51) [45]. Among the total home ventilated
population in this study, 64 % of readmissions were associated with respiratory
causes. Pneumonia, tracheitis, and even upper respiratory viral infections may
result in increased ventilator or oxygen support in infants with BPD. Typically
with supportive care, increased pulmonary toilet, and use of antibiotics if appro-
priate, ventilator parameters return to baseline. Owing to the need for frequent
ventilator setting adjustment, episodes requiring increased support are frequently

managed in an inpatient setting.
Respiratory viruses commonly cause pulmonary exacerbation in children with
severe BPD [46]. Rhinovirus which generally is considered an upper airway patho-
gen can lead to severe lower respiratory tract disease in children with BPD [47].
Children with small airway disease and pulmonary hypertension may be at highest
for pulmonary decompensation from respiratory viruses through small airway
obstruction and elevated pulmonary vascular pressures, respectively. Palivizumab
should be used for the first 2 years of life in the ventilated BPD child to reduce
morbidity and death from respiratory syncytial virus (RSV) [48].
Children with tracheostomies are at higher risk for bacterial infections and bacte-
rial colonization of the lower airways due to the bypassing of natural defenses of the
upper airway. The pneumococcal polysaccharide vaccine (PPSV23) should be con-
sidered in older BPD children on home mechanical ventilation since PCV7 vaccine
failures have been reported in children with lower airway conditions such as asthma
[49]. Colonization with respiratory pathogens, such as Pseudomonas aeruginosa,
may increase the risk of tracheitis following viral infections. Suppressive inhaled or
oral antibiotic treatment in children with chronic tracheitis may be considered but
may lead to antibiotic resistance.
Conclusions
Chronic lung disease of prematurity is a frequent indication for home invasive ven-
tilation in the pediatric population. Although the heterogeneity of lung disease and
its various components of parenchymal, vascular, small airway and large airway
disease make it challenging to manage, infants with BPD can be ventilated in the
home setting effectively. Successful ventilation is dependent on caregiver training,
appropriate resources, and availability of subspecialty care. Unlike many other
pediatric respiratory diseases that may require home invasive ventilation, infants
and children with BPD have a higher likelihood of being weaned from support with
good lung growth.
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Chapter 16
Chronic Ventilatory Support for Children
Following Trauma or Severe Neurologic
Injury
Iris A. Perez, Sally L. Davidson Ward, Sheila Kun, and Thomas G. Keens
Introduction
Trauma is a leading cause of death in children and can result in significant morbidity
in survivors. The most common causes of traumatic injuries in childhood are falls,
motor vehicle accidents (MVA), sports, and inflicted injuries. With advances in
resuscitation and acute care, the majority of children now survive ([1, 2]. However,
those who survive can suffer from long-term disabilities and are at high risk of pul-
monary complications including acute and chronic respiratory failure, sleep-related
breathing disorders, dysphagia leading to recurrent aspiration, and ventilator-asso-
ciated pneumonia, atelectasis, and pneumothorax. Other complications associated
with trauma include pulmonary embolism, cardiopulmonary arrest not resulting in
death, central nervous system (CNS) infection, progression of original neurologic
insult, and seizure [3]. All of these conditions can lead to chronic respiratory failure
and the need for prolonged ventilatory support. In this chapter, we review the pul-
monary complications of trauma, the pathophysiology of respiratory failure, and the
long-term care of trauma survivors needing chronic assisted ventilation and respira-
tory care.
Many pediatric trauma victims do well and can be discharged to home, but some
cannot and may require extended care. In one pediatric series, 8 of 14 patients were
readmitted to a rehabilitation center because of the consequences of severe cerebral
injuries or injuries to extremities. One patient had to be transferred to a nursing
home due to prolonged coma, and the remaining five children were admitted to an
acute care facility [4].
I.A. Perez, M.D. (*) • S.L.D. Ward, M.D. • S. Kun, R.N., M.S. • T.G. Keens, M.D.
Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles,
Keck School of Medicine of the University of Southern California,
4650 Sunset Blvd, Box #83, Los Angeles, CA 90027, USA
e-mail: iaperez@chla.usc.edu; sward@chla.usc.edu; skun@chla.usc.edu; tkeens@chla.usc.edu

312 I.A. Perez et al.
Mechanisms of Injury
The most common causes of disability and death from trauma are cerebral, cervical,
thoracic, and abdominal injuries [1, 2]. The outcome of trauma patients is primarily
impacted by severity of the injury to the brain and other neural structures [4].
Traumatic Brain Injury
Traumatic brain injury (TBI) is most commonly seen in young children 0–4
years of age and older adolescents [5], males [5], and those living in urban areas
and from lower socioeconomic status [6]. Other risk factors include attention-
deficit disorder and behavioral difficulties [7]. In the United States, falls are the
overall leading cause of TBI [5]. In adolescents, TBI most commonly results
from motor vehicle occupant accidents [8], while assault or abuse is the most
common cause in infants. Outcome of inflicted TBI is poor with a mortality rate
of up to 30 %. Furthermore, it is associated with significant morbidity with long-
term neurologic sequelae [9].
Head injuries are very common in childhood due to several factors. Children
have a greater head to body ratio, and their brain is less myelinated, and hence they
are more easily injured. In addition, the cranial bones are thinner and thus afford
less protection [10]. Severe head injury results in increased risk of developing intra-
cranial hypertension and “malignant brain edema” [11, 12] making the child vulner-
able to secondary brain injury and severe neurologic dysfunction.
Pulmonary problems frequently complicate moderate to severe traumatic brain
injury. Most pulmonary complications are directly related to the trauma itself such
as pneumothorax and flail chest but can also result from the severe neurologic defi-
cits due to the TBI. Respiratory complications associated with neurologic injury
include aspiration pneumonia, atelectasis, and prolonged mechanical ventilation
[13]. Pediatric trauma patients older than 10 years of age with head injury and an
injury severity score over 25 may be at risk for ventilator-associated pneumonia
[14]. The incidence of dysphagia is high in children with severe TBI with Glasgow
Coma Scale of ≤8.5 and a ventilation period of ≥1.5 days following MVA [15].
Karanjia et al. reported an overall rate of reintubation of 7.9 % following any
type of neurologic injury in patients aged 12–92 years admitted to neurocritical care
unit of a tertiary hospital. Of those with primary brain injury, the overall rate of
reintubation within 72 h was 6.1 %. The most common cause of reintubation was
respiratory distress secondary to altered mental status. These patients had prolonged
hypoventilation, indicating a respiratory control abnormality. Atelectasis and
decreased minute ventilation are common and result in ventilation perfusion mis-
match and eventual respiratory failure. Aspiration and nosocomial pneumonias
were also identified as risk factors for reintubation [16].
16 Chronic Ventilatory Support for Children Following Trauma or Severe Neurologic… 313
Spinal Cord Injury
Traumatic spine injuries in children are relatively rare although the true incidence is
underestimated due to on-scene mortality or death during transport [17, 18]. The
most common mechanism of injury is motor vehicle accidents, accounting for 62 %
in one series [18]. Non-accidental trauma accounted for 20 % of injuries in children
aged 0–3 years [18]. In younger children, spine injuries most commonly involve the
high cervical spine (0–C4) [17, 18], while C4–C8 lesions are more common in older
children and adolescents [19]. Infants and younger children are more susceptible to
cervical spine injuries due to their disproportionately large head, underdeveloped
neck musculature, and decreased motor control [20]. The majority of spinal fractures
have associated injuries, most commonly involving the thorax [18] followed by
abdominal, head, skeletal, and neurologic injuries.
Traumatic injuries to the spinal cord result in paralysis of the muscles inner-
vated by segments caudal to the involved spinal cord segment. More than half of
all spinal cord injury (SCI) syndromes involve the cervical cord resulting in inter-
ruption of descending neural pathways that control ventilatory muscles [21].
Injury to one of the eight cervical segments of the spinal cord results in tetraple-
gia, while lesions involving thoracic, lumbar, or sacral regions result in paraple-
gia. The higher and more complete the motor level of injury, the greater the
respiratory muscle impairment [22]. Injuries above the level of the phrenic moto-
neurons (C3–C5) cause complete paralysis of the diaphragm as well as other
muscles of inspiration and expiration and often lead to the need for mechanical
ventilation. In one study of adult patients, those with injuries of C5 and above had
severe respiratory failure requiring tracheostomy. Furthermore, all surviving
patients with injury at the level of C4 and above still needed ventilatory support
at discharge [23]. The presence of associated injuries also contributes to need for
ventilatory support [23]. In cervical injury below C5, the diaphragm may still
function but the intercostal muscles may be paralyzed. Furthermore, the abdomi-
nal muscles when paralyzed eliminate the ability to cough.
Spinal cord injury results in decreased lung compliance, chest wall distortion, and
impairment in both inspiratory and expiratory muscle function. There is a reduction in
vital capacity to 20–50 % predicted, inefficiency in ventilation, and markedly impaired
cough [22]. Scanlon et al. reported that the reduction in lung compliance occurs within
a month of injury [24]. Although chest wall compliance is also reduced [24], the
abdominal wall is highly compliant [25]. Thus inefficient ventilation (high energy
cost for the ventilation achieved) occurs, resulting in risk of respiratory muscle fatigue
that is exacerbated when there is an increase in respiratory load as with pneumonia or
airway obstruction [26].
Partial recovery of respiratory muscle performance may occur over the year
following injury with improvement in FEV1 and FVC [27]. This is dependent on
the level and completeness of the injury, the extent of spontaneous recovery, and
associated factors such as history of chest injury or operation, asthma, wheezing,
or maximal inspiratory pressure [28]. Although partial recovery of ventilatory
function in the acute phase of cervical cord injury is frequently seen, many
patients enter rehabilitation facilities on mechanical ventilation, and some will
require long-term mechanical ventilation.
Thoracic Injuries
Chest trauma in children often indicates severe injury. Thoracic injuries occur infre-
quently but, when present, occur in association with head and abdominal injuries
[29]. Chest injuries may accompany spinal trauma in children and adolescents [18].
Due to the elasticity of the chest, rib fractures are rare and the energy is transmitted
to the thoracic contents. Therefore, pulmonary contusion-laceration is the most
commonly reported injury after severe blunt chest trauma in children. Other injuries
include hemopneumothorax, ruptured diaphragm, and tracheobronchial injury [29].
In adults, pulmonary contusion of 20 % of the lung volume is a risk factor for respi-
ratory failure and acute respiratory distress syndrome [30]. However, this may not
occur in children. Hamrick reported that in children, a similar degree of pulmonary
contusion did not result in the same morbidity as adult population. In this series,
none of the children with pulmonary contusions required intubation, none died, and
the mean length of hospital stay was 3.9 days [31]. Therefore, unlike adults, chil-
dren who recover from pulmonary contusion-laceration usually do not suffer from
significant respiratory problems [32].
Development of Chronic Respiratory Failure

Following Trauma
To sustain spontaneous ventilation, adequate function of all components of the

respiratory system, i.e., neurologic control of breathing, ventilatory muscles, and
lung mechanics, must be present. When any of these components is impaired, the
child’s ability to breathe spontaneously may be impaired and respiratory failure
may ensue. Specifically, when ventilatory muscle power and central respiratory
drive are sufficiently decreased and thus unable to overcome the respiratory load,
respiratory failure results (Fig. 16.1). If the cause of this imbalance is not
reversed, chronic respiratory failure occurs and chronic ventilator support will
therefore be required [33]. Children who survive trauma or neurologic injury are
at risk for developing chronic respiratory failure as listed in Table 16.1.
The outcome of patients suffering from trauma is generally good with many
patients weaned off mechanically assisted ventilation. In the acute phase, the goal
is for the child to be weaned from the ventilator by addressing potential barriers
to weaning. Keeping the respiratory system balance in mind (Fig. 16.1), this can
be achieved by directing the therapy toward reducing the respiratory load, improv-
ing ventilatory muscle power, and increasing central respiratory drive.
Fig. 16.1 The respiratory balance. In normal individuals, adequate ventilation occurs when the
ventilatory muscle power and central drive are greater to overcome the respiratory load, tipping the
balance to the right. However, when ventilatory muscle power and central drive are decreased and/
or the respiratory load is increased, the ventilatory muscle power and central drive may not be
adequate to overcome the respiratory load. Thus, the balance will tip to the left, and respiratory
failure will result
Table 16.1 Factors contributing to chronic respiratory failure following trauma

Reduced ventilatory muscle Decreased central
Increased respiratory load power respiratory drive
Aspiration pneumonia Tetraplegia/paraplegia Seizure
Ventilator-associated Cerebral palsy Encephalopathy
pneumonia
Atelectasis Scoliosis Intracranial hypertension
Airway obstruction Hypoxia Metabolic alkalosis
Hemopneumothorax Hypercapnia Intracranial hemorrhage
Flail chest Acidosis Narcotics; anxiolytics
Obesity Hyperinflation
Malnutrition
Narcotics; anxiolytics
Reduce the Respiratory Load
In order to reduce the respiratory load, the pulmonary mechanics must be optimized.
Strategies include treatment of infection with appropriate antibiotics; prevention of venti-
lator-associated pneumonia and aspiration pneumonia, addressing pneumo- or hemotho-
rax; and promotion of appropriate airway clearance with chest physiotherapy, inhaled
bronchodilators, and use of anti-inflammatory agents. Acute respiratory distress syndrome
when present must be aggressively managed. When diuretics are used careful attention to
electrolyte balance is required as metabolic alkalosis can hinder respiratory drive.
Increase Ventilatory Muscle Power
Attention to the optimization of ventilatory muscle function is an important adjunct

to the treatment of any child with prolonged respiratory failure, particularly in those
who have sustained neurologic and spinal cord injuries. Ventilatory muscle power is
adversely affected by many conditions commonly present in children suffering from
trauma and neurologic injury. Fatigue of the ventilatory muscles occurs when mus-
cle energy production is hindered [34–38]. Hypoxia [38], hypercapnia [39], and
acidosis predispose to diaphragm fatigue. Malnutrition decreases oxidative energy-
producing enzymes in muscle. Hyperinflation places the diaphragm at a mechanical
disadvantage because muscle fibers are short and develop less tension [40]. If the
child has received assisted ventilation for some time, muscle atrophy and decreased
oxidative capacity may occur from disuse [35]. Thus, a child who suffered from
trauma and neurologic injury may have decreased ventilatory muscle endurance
associated with hypoxia, hypercapnia, hyperinflation, malnutrition, and disuse.
Therefore, therapy should be directed toward adequate oxygenation and ventilation,
removal of airway obstruction and hyperinflation, adequate nutrition, and ventila-
tory muscle training [34, 35]. Pharmacologic neuromuscular blockade, sedation,
and pain medications may also decrease ventilatory muscle function. When possi-
ble, these medications should be weaned as tolerated [41].
Ventilator weaning techniques should be designed to improve ventilatory muscle
power in an attempt to raise the child’s fatigue threshold (Fig. 16.2). The authors
recommend a sprint weaning approach similar to athletic training of any other skel-
etal muscle [35]. Athletes train for performance by bursts of muscle activity (train-
ing stress) followed by rest periods. To achieve this, we adjust the ventilator settings
to completely meet the child's ventilatory demands by the use of a physiologic ven-
tilator rate for age and the attainment of normal noninvasive monitoring of gas
exchange (Spo2 ≥ 95 % and end-tidal Pco2 [PETco2] of 30–35 Torr). The goal is to
provide total ventilatory muscle rest. The patient is then removed from the ventila-
tor for short periods of time during wakefulness. The authors refer to this time off
the ventilator as a sprint. The child is carefully monitored noninvasively during
sprints to prevent hypoxia or hypercapnia, using pulse oximetry and PETco2 monitor-
ing. Increased supplemental oxygen may be required during sprinting. The sprint is
terminated for Spo2 < 95 %, PETco2 > 45–50 Torr, or if the child shows signs of respi-
ratory distress, cyanosis, tachypnea, retractions, diaphoresis, or tachycardia.
However, it is important to remember that the child who has a respiratory control
disorder may not exhibit respiratory distress. The length of each sprint is increased
daily as tolerated. Initially, sprinting should be performed only during wakefulness,
as ventilatory muscle function and central respiratory drive are more intact during
wakefulness than during sleep. When the child is weaned off the ventilator com-
pletely during wakefulness, sprint during sleep is initiated [41]. Prior to weaning off
the ventilator during sleep, we perform a polysomnogram off the ventilator to deter-
mine adequacy of gas exchange. We cannot overemphasize the importance of com-
plete ventilatory support during rests. Because sprint weaning simulates athletic
Fig. 16.2 Ventilatory muscle training. Mechanically assisted ventilation (shaded area) is required
when the work of breathing (Y axis) exceeds the fatigue threshold. Ventilatory muscle training may
increase the work of breathing that the patient can perform (hatched area), raising the fatigue
threshold until it exceeds the work of breathing required. Respiratory failure overlaps ventilatory
muscle training until the fatigue threshold exceeds the required work of breathing. Then, the child
can perform the work of breathing required to breathe spontaneously and can be weaned from the
ventilator
training, better success has been observed with this form of ventilator weaning par-
ticularly when ventilatory muscle fatigue is thought to be a component. In effect,
this technique raises the fatigue threshold, so that a child can perform an increased
level of work of breathing and sustain adequate spontaneous ventilation [35].
Improve Central Respiratory Drive
In general central respiratory stimulants are not effective. Swaminathan demon-

strated no effect of theophylline on ventilatory responses to hypercapnia or hypoxia
in normal subjects [42]. Since central respiratory drive can be inhibited by chronic
metabolic alkalosis, electrolyte balance should be maintained, with maintenance of
serum chloride concentrations >95 mEq/dL and avoiding alkalosis. Chronic
hypoxia and/or hypercapnia may cause habituation of chemoreceptors, leading to
a decrease in central respiratory center stimulation, and decreased central
respiratory drive. Narcotic analgesia and benzodiazepine anxiolytics may need to

be weaned prior to sprint weaning as these are also respiratory depressants.
Appropriate implementation of the techniques as outlined above may result in
successful weaning from mechanically assisted ventilation in these children [41].
However, some may continue to require ventilatory support despite appropriate use
of the above techniques [33].
Philosophy of Chronic Ventilatory Support
For some children who survive trauma, weaning off ventilatory support completely
is not a realistic goal. In order to optimize their quality of life, these children must
have energy available for other physical activities including rehabilitation. For this
reason, it is important that ventilators are adjusted to completely meet their ventila-
tory demands. The authors adjust ventilators to provide a PETco2 of 30–35 Torr and
a Spo2 ≥ 95 %. For children who are ventilator dependent only during sleep, ventilat-
ing to Pco2 ≤ 35 Torr during sleep is associated with better spontaneous ventilation
while awake. Optimal ventilation also avoids atelectasis and the development of
coexisting lung disease. It has also been our experience that children who receive
chronic ventilatory support actually have fewer complications and generally do bet-
ter clinically, with some degree of hyperventilation during assisted ventilation.
Since hypoventilation is more severe during sleep than during wakefulness, noctur-
nal assisted ventilation often prevents the development of pulmonary hypertension
and other complications of chronic intermittent hypoxia and hypercapnia [43].
Nocturnal ventilation allows ventilatory muscle rest and improves endurance for
spontaneous breathing while awake; therefore, it is actually associated with an
enhanced quality of life [44].
Modes of Ventilation
Portable Positive Pressure Ventilator via Tracheostomy
Positive pressure ventilation (PPV) via tracheostomy is a common method of provid-

ing assisted ventilation [44, 45]. For home mechanical ventilation, we advocate the
use of relatively small, uncuffed tracheostomy tubes for the following reasons: (a)
minimize the risk of tracheomalacia or tracheal mucosal damage, (b) allow an expi-
ratory leak so that the child may speak, (c) allow use of a one-way, positive-closure
speaking valve to enable the child to phonate and prevent aspiration during swallow-
ing, and (d) provide a margin of safety because the child may still be able to ventilate
around the tracheostomy tube should the tracheostomy plug. The disadvantage of
using small, uncuffed tracheostomy tubes includes the presence of leaks, which can
be large and variable, especially in small children. Periodic assessment of the degree
of leak around the tracheostomy tube and upsizing the tube as the child grows is
required. While we advocate a small, uncuffed tracheostomy tube, some patients
require a customized length or an extension from the stoma site. In spite of pressure-
limited ventilation, a few children, especially the older ones, might need cuffed tubes
to decrease the leak and allow better ventilation during sleep. During wakefulness,
the cuffed tubes can be deflated to allow speech. Occasionally, the cuffed tubes do
not even need to be inflated to decrease the air leak and to improve ventilation.
Placing a deflated cuffed tracheostomy tube may increase the resistance above the
tracheostomy enough to decrease the leak and achieve adequate ventilation [41, 44].
Noninvasive Positive Pressure Ventilation
Noninvasive positive pressure ventilation (NPPV) can be used in children who

require ventilatory support only during sleep and who have relatively mild intrinsic
lung disease. NPPV is usually delivered via a nasal mask but nasal prongs or face
mask can also be used [16, 45–48].
Patients with primary brain injury and encephalopathy who have intact cough and
gag reflexes may benefit from trial of noninvasive ventilatory support to reduce atel-
ectasis and facilitate alveoli recruitment [46]. In one study, the implementation of
nighttime bi-level NPPV was successful in limiting atelectasis without apparent
increase in the risk of aspiration pneumonia [16]. Noninvasive ventilator support has
been used to prevent endotracheal intubation in adults with acute spinal cord injury
[49] and support the terminal phase of weaning from mechanical ventilation [49, 50].
NPPV is best suited for those who require only ventilator support at night.
Noninvasive ventilation is not usually used 24 h/day, because the mask interferes
with daily activities and social interaction; therefore, it would not be helpful in
patients who require rehabilitation during the day. Moreover, the risk of skin break-
down increases significantly with prolonged mask use. Because of the risk of aspi-
ration, children who are unable to remove their own masks should not have full-face
masks unless they are closely observed. Although, NPPV is not ideal in those who
need 24-h ventilatory support, it may be considered as a palliative tool.
Noninvasive bi-level ventilation is not as powerful as PPV via tracheostomy.
Thus, these children may require intubation and more sophisticated ventilatory sup-
port during acute illnesses.
Diaphragm Pacing via Phrenic Nerve Stimulation

and Diaphragm Muscle Pacing
Diaphragm pacing (DP) may provide adequate ventilatory support in patients who
become quadriplegic or have central hypoventilation following trauma [51].
Diaphragm pacing requires a functional phrenic nerve, hence, may not be effective
in patients with C3–C5 spinal cord injury. Each hemidiaphragm is innervated by a
phrenic nerve, which is formed from the C3–C5 cervical roots. With C3–C5 spinal
cord injury, damage to the phrenic motoneurons and axons may occur resulting in
inadequate phrenic nerve function [52]. Therefore patients with C3–C5 spinal cord
injury may not be ideal candidates for DP by phrenic nerve stimulation The involve-
ment of the phrenic nerve may only be determined at the time of surgery. Thus,
when this is considered in patients with C3–C5 spinal cord injury, patient and par-
ents must be aware that there is the possibility that diaphragm pacing by phrenic
nerve stimulation may not work.
Diaphragm pacing involves direct simulation of the phrenic nerve with subse-
quent diaphragm movement producing respiration. It involves surgical implantation
of the phrenic nerve electrode thoracoscopically or via cervical approach. At our
center, thoracic placement of the phrenic nerve electrodes is done thoracoscopically
[53]. The electrode wires are connected to two implanted radiofrequency receivers
which are usually positioned superficially over the anterior chest wall or abdomen.
Two antennas are positioned over each receiver and connected to an external radio
transmitter [53, 54]. As opposed to a traditional mechanical ventilator, diaphragm
pacing uses the child’s own diaphragm as the “ventilator” pump. The external trans-
mitter, which is portable and battery operated, generates electrical energy similar to
radio frequency via an external antenna that is placed over the receiver. The receiver
converts the energy to electrical current that is then conducted to the phrenic nerve,
stimulating diaphragm contraction.
Le Pimpec-Barthes et al. reported ventilator weaning in 18/20 patients who were
full-time ventilator dependent (19 from posttraumatic tetraplegia, 1 with CCHS).
One elderly woman with a 4-year history of tetraplegia was not able to be weaned.
She exhibited profound diaphragmatic amyotrophy during preoperative testing.
One patient with severe malnutrition despite aggressive enteral and parenteral man-
agement recovered only partially and eventually gave up stimulation attempts. All
the patients weaned from mechanical ventilation have reported improved quality of
life, improved mobility, and better quality sleep [55].
Based on our experience with diaphragm pacing in patients with congenital cen-
tral hypoventilation syndrome, we do not prescribe full-time use of the diaphragm
pacers via phrenic nerve stimulation because of the risk of diaphragm fatigue. Thus,
the patients with high cervical spinal cord injury may use diaphragm pacing during
the day, but they will need to be on the ventilator via tracheostomy at night.
Moreover, we have observed failure with diaphragm pacing in patients who are
obese or who have become overweight. In those who require ventilatory support via
diaphragm pacers only during sleep, decannulation of the tracheostomy has been
possible. Virtually all of these patients have snoring and must be monitored for
obstructive sleep apnea. If present we have adjusted the pacer settings by decreasing
the tidal volume to decrease the force of inspiration with each diaphragm contrac-
tion and thus generate less negative pressure and less chance of collapse [54].
Another form of diaphragm pacing is provided via intramuscular diaphragm pac-
ing. In this method, intramuscular electrodes are implanted laparoscopically in each
diaphragm with leads tunneled subcutaneously to an exit site in the chest, where
they are brought out through the skin and connected to external stimulator. In their
series, Onders et al. showed good outcomes in adults who sustained cervical SCI as
children and received intramuscular diaphragm pacing as adults. Of these patients,
eight tolerated the surgical implantation, four utilized the pacing full time, four
paced during day only, and two were still actively conditioning their diaphragms
[56]. Similar to adults, Onders et al. also reported successful outcome in ventilator-
dependent pediatric spinal cord-injured patients who were placed on intramuscular
DP. Two patients went to full-time pacing without mechanical ventilation. One of
the patients received implantation on day 1 and never returned to positive pressure
mechanical ventilation and, after 3 weeks of full-time pacing, was weaned off DP
and was decannulated. The other four paced for 8–23 h a day but were still condi-
tioning and progressively weaning from the ventilator [57]. In addition to indepen-
dence from the ventilator, intramuscular diaphragm pacing has been reported to
decrease secretions and need for suctioning [58].
Respiratory Treatments
Pulmonary complications can be minimized by instituting strategies that improve

airway clearance such as chest physiotherapy, use of cough assist device, inhaled
bronchodilators, and use of anti-inflammatory agents.
Bronchodilators/Beta Adrenergic Agonists
Bronchodilators are an important component in the care of children who survive

trauma. Several studies support the role of bronchodilators to help improve air-
way clearance, cough effectiveness, and respiratory symptoms. Patients with
tetraplegia may have unsuspected small airway obstruction. Spungen et al.
found that administration of B2 agonist metaproterenol sulfate to 34 subjects
with chronic tetraplegia resulted in significant increase in FEV1 (≥12 % and
200 mL) in 41 % of subjects [59]. This heightened responsiveness is postulated
to be due to interruption of sympathetic innervations to the lung resulting in
parasympathetic (bronchoconstrictive) predominance [60]. In addition, a sig-
nificant increase in FEV1 and in sGaw is seen following inhalation of the anti-
cholinergic agent ipratropium bromide [61, 62]. Patients with tetraplegia also
demonstrate airway hyperresponsiveness in response to methacholine, hista-
mine, and ultrasonically nebulized distilled water [63, 64]. Grimm reported that
patients with tetraplegia who responded to antihistamine were found to have
reduced airway caliber on spirometric measurements. The proposed mecha-
nisms for reduced baseline airway caliber relative to lung size in patients with
tetraplegia include unopposed parasympathetic activity secondary to the loss of
sympathetic innervation to the lungs and/or the inability to stretch the airway
smooth muscle with deep inhalation [64]. Long-term administration of a
long-acting B2 adrenergic agonist improved pulmonary function parameters and

static mouth pressure among subjects with tetraplegia [60]. During the 4-week
period of salmeterol administration, FVC, FEV1, PEF, MIP, and MEP improved
indicating improvement in respiratory muscle strength which may increase
cough effectiveness [60] and lead to prevention of atelectasis and pneumonia.
Assisted cough: Patients with spinal cord injuries may have impaired cough
and will have accumulation of secretions that can lead to atelectasis and pneu-
monias. Several methods are available to deal with secretions in association
with chest physiotherapy. One of these methods is the use of mechanical insuf-
flation-exsufflation device (cough assist) via face mask or tracheostomy tube.
This device provides a positive pressure breath followed by negative pressure to
help mobilize airway mucus and secretions during exhalation. In those without
an artificial airway, mouth application may result in discomfort during the nega-
tive pressure phase or cause collapse of the oropharyngeal muscles. The cough
assist device can be used frequently, particularly during an acute respiratory
illness. The use of the device has resulted in reduced hospitalization and
improved quality of life in children with neuromuscular disorders and their fam-
ilies ([65]). It is recommended in children with neuromuscular disorders with
impaired cough [66, 67] and may have a role in patients who survive trauma and
neurologic injury.
Respiratory Muscle Training
Respiratory muscle training targeted at both endurance and strength has been
found to provide improvement and enhance performance in patients with tetra-
plegia [68–70]. This involves both resistive inspiratory muscle training [69] and
expiratory muscle training [68]. Neck breathing, an alternative method of vol-
untary respiration using neck accessory muscles, has been found to be success-
ful in liberating quadriplegic children with acute C2 injury from the ventilator
up to 12 h (average of 3.5 h). To accomplish neck breathing in one report, neck
strengthening was begun as soon as the patient was considered medically stable.
Strengthening of the neck muscles was done through manual resistive exercises
and through activities using oral motor control such as driving an electric wheel-
chair or a computer or video game mouth sticks. When the patient was able to
generate 10–15 cm H2O of negative pressure, successful neck breathing was
accomplished [71].
A glossopharyngeal breathing technique using the muscles of the mouth, throat,
and larynx as an accessory respiratory system has been described. In this method,
inspiration is achieved through the active generation of positive pressure in the
upper airway by means of a series of pumping motions by the tongue and pharynx.
The larynx rhythmically opens and closes for each stroke. After a series of strokes,
the larynx subsequently relaxes and passive expiration occurs [72].
Nutrition
Malnutrition decreases strength by decreasing muscle mass and decreases

endurance by decreasing muscle oxidative enzymes. When adequate nutrition
cannot be achieved safely by oral feedings, gastrostomy tube may be indicated,
as malnutrition will further weaken the ventilatory muscles.
Because of limited mobility and physical activity, patients who survive
trauma are at increased risk of obesity. Patients with spinal cord injury (SCI)
typically have lean body mass in the lower extremities, with increased abdomi-
nal and lower extremity fat tissue accumulation [73, 74]. Adults with SCI have
been shown to have increased prevalence of obesity [75]. Furthermore, Nelson
et al. found metabolic syndrome in adolescents with SCI [76, 77]. Therefore,
regular involvement of a dietitian is necessary and should be part of the care of
patients with quadriplegia following SCI.
Dysphagia Evaluation
Studies have shown that patients with traumatic brain injury [78], tetraplegia [79],
those with tracheostomies [80], and trauma patients treated with halo-vest fixation
[81] are at risk for dysphagia. Swallowing dysfunction can lead to hypoxemia, chem-
ical pneumonitis, mechanical obstruction, atelectasis, and bronchospasm. Therefore,
it is imperative that these patients undergo early and accurate evaluation. This can be
performed by bedside evaluation with a speech pathologist or occupational therapist
followed by videofluoroscopic endoscopic swallow study or modified barium swal-
low study as necessary. When dysphagia is identified, patients should then be fol-
lowed closely by speech or occupational therapist for feeding therapy. Some patients
may benefit with the use of Passy-Muir valve (PMV), a one-way silicone diaphragm
check valve that fits over the end of the tracheostomy tube. The valve opens during
inspiration and closes during exhalation, and the exhaled air passes through the upper
airway including the vocal cords, thus allowing for phonation. It has been found to
decrease the incidence of aspiration and improve swallowing function in some
patients with tracheostomy [82] but not in others [79]. When severe dysphagia is
present, placement of gastrostomy or jejunal tube may be required.
Follow-Up Studies and Monitoring
Polysomnography
In patients who are ventilator dependent, it is important to regularly check and

readjust settings to ensure adequacy of ventilation. These evaluations are usually
performed by polysomnogram. If the child is relatively stable, daytime
polysomnograms may be adequate. Sleep studies may also be used to predict the
success of sprint weaning during sleep when sprinting schedules are advancing
in the home. When a sleep laboratory is not available, an overnight hospital
admission with continuous recording of Spo2 and PETco2 may be sufficient to
assess the adequacy of ventilator settings.
Echocardiogram
Ventilator-dependent patients are at risk for pulmonary hypertension and cor pul-
monale because home mechanical ventilation may not completely meet the ventila-
tory requirements at all times. Because clinical right heart failure may not be
recognized right away, we suggest periodic echocardiogram for following right
heart function. When pulmonary hypertension is identified, it should be assumed
that it is due to inadequate ventilation until proven otherwise and the patient should
be hospitalized for continuous noninvasive monitoring of gas exchange and ventila-
tor adjustments.
Monitoring for Sleep Issues and Sleep-Related Breathing

Disorders
Children with traumatic brain injury are at increased risk of sleep disturbances
including sleep apnea, periodic limb movements in sleep, narcolepsy, and para-
somnias [83, 84]. Patients with spinal cord injury may be at high risk for sleep-
related breathing disorders that include obstructive and central apneas,
hypoxemia, and hypoventilation ([85–87]). This may be due to loss of tone and
paralysis of intercostal and abdominal muscles and impaired diaphragm func-
tion, use of medications such as benzodiazepine and baclofen that may have
depressant effects on the respiratory system, obesity, increased abdominal
girth, and increased neck circumference [85, 87, 88]. When sleep apnea is sus-
pected by the presence of snoring, observed apneas, night waking, choking,
and daytime sleepiness, patients should undergo polysomnography to deter-
mine the presence and severity of a sleep-related breathing disorder. Tran et al.
report high incidence of obstructive sleep apnea in adults without daytime
sleepiness as early as 7 weeks after spinal cord injury. The authors did not find
correlation with body mass index, neck circumference, or SpO2 nadir and
therefore suggest consideration for earlier screening even in those who may be
asymptomatic [89].
Monitoring for Scoliosis and Restrictive Lung Disease
Children who sustain SCI before puberty experience a higher incidence of scoliosis
which may result in restrictive lung disease and therefore must be monitored ([90–
92]). In one series, up to 96 % of children had scoliosis, with most having a curve of
≥40° and had undergone surgical correction [93]. In addition to close follow-up by
an orthopedist, pulmonary function tests should be performed to monitor for the
presence of restrictive lung disease, when feasible.
Conclusion
Children who survive trauma or severe neurologic injury are at risk for respiratory
complications due to ventilatory muscle weakness and/or decreased respiratory
drive. Ventilatory muscle weakness when severe results in part-time or full-time
ventilator dependence. Those who require part-time ventilatory support can be ven-
tilated by noninvasive positive pressure ventilation, while those requiring full-time
support are best ventilated by positive pressure ventilation via tracheostomy.
Swallowing dysfunction is not uncommon and can lead to aspiration pneumonia.
Those who can breathe spontaneously have a high index of suspicion for sleep-
related breathing disorder.
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Chapter 17
Care of the Child with Congenital Central
Hypoventilation Syndrome
Fiona Healy and Carole L. Marcus
Pathophysiology
Genetics
In 2003, it was discovered that CCHS is caused by a defect in the PHOX2B homeobox
gene and that inheritance is autosomal dominant [1, 2]. PHOX2B maps to chromo-
some 4p12 and encodes for a transcription factor that plays a role in the regulation
of neural crest cell migration and development of the autonomic nervous system [1,
2]. The transcription factor consists of 314 amino acids with two short and stable
polyalanine repeats of nine and 20 residues, respectively. Approximately 90 % of
PHOX2B mutations in CCHS involve expansion of the 20-residue polyalanine region,
adding 4–13 copies [3]. These polyalanine repeat expansion mutations (PARMs) pro-
duce genotypes of 20/24 to 20/33, whereas the normal genotype is 20/20. The remain-
ing 10 % of PHOX2B mutations in CCHS are nonpolyalanine repeat mutations
(NPARMs) and include missense, nonsense, and frameshift mutations.
To date, there have been some associations made between the PHOX2B geno-
type and CCHS phenotype. Typically, a higher number of repeats are associated
with a greater severity of the respiratory phenotype [3, 4]. Specifically, individuals
with genotypes from 20/27 to 20/33 usually require ventilatory support during both
wakefulness and sleep, while those with the 20/25 genotype usually require only
F. Healy, M.B.B.Ch. (*)

Department of Respiratory Medicine, Children’s University Hospital,
Temple Street, Dublin, Ireland
e-mail: marcus@email.chop.edu
C.L. Marcus, M.B.B.Ch.
Sleep Center, Children’s Hospital of Philadelphia, University of Pennsylvania,
34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
e-mail: fionamhealy@gmail.com

332 F. Healy and C.L. Marcus
nocturnal ventilation [3, 5, 6]. Later-onset cases with milder hypoventilation have
been documented with 20/24 or 20/25 genotypes and likely represent cases of vari-
able penetrance of these mutations [5–7]. Most mutations occur de novo in CCHS,
but 5–10 % are inherited from a mosaic typically unaffected parent [7].
Effect of Sleep State
Central alveolar hypoventilation is diagnosed when the arterial partial pressure of

carbon dioxide (PCO2) is >45 mmHg during wakefulness, due to decreased central
ventilatory drive. This cutoff cannot be applied during sleep however, as PCO2 lev-
els are typically higher in this state. The regulation of arterial blood gases during
sleep in healthy humans is maintained primarily by central chemoreceptors which
respond to changes in the PCO2 by detecting the pH of cerebrospinal fluid and
peripheral chemoreceptors which respond to decreased arterial partial pressure of
oxygen (PO2) and increased PCO2. During wakefulness, additional behavioral and
arousal-related influences on breathing (from reticular activating system, forebrain,
and mechanoreceptor afferents) also affect ventilatory control. In many situations,
these non-chemoreceptive inputs to breathing result in relatively well-controlled
arterial blood gases in patients with CCHS while awake and not engaged in vigor-
ous exercise. This may explain why some patients with CCHS who breathe suffi-
ciently during wakefulness (e.g., those with genotypes 20/24, 20/25, and some
20/26) only require ventilatory support during sleep.
Huang et al. studied nine children with CCHS during spontaneous breathing
in both rapid eye movement (REM) and non-REM (NREM) sleep and demon-
strated more severe hypoventilation during NREM periods, with greater
decreases in minute ventilation [8]. It has been proposed that an intrinsic REM-
related ventilatory drive could explain these findings, as shown by increased
firing of single neuron recordings of medullary respiratory cells during REM
compared to NREM sleep in healthy animals [9]. In addition, it is known that
there are tonic excitatory inputs to the respiratory system during both REM and
wakefulness that decline during NREM sleep. However, although patients with
CCHS have better ventilation during REM than NREM sleep, they still have
significant hypoventilation during REM sleep and thus require mechanical ven-
tilation during all sleep stages including REM.
Mechanoreception
Additional proposed non-chemoreceptive inputs to breathing in patients with CCHS

include mechanoreceptor pathways. Studies have confirmed that in children with
CCHS, both passive motion during wakefulness and active exercise improve venti-
lation [10, 11]. In a study of treadmill exercise testing in five children with CCHS,
exercise-induced hyperpnoea occurred [11]. CCHS subjects increased minute
17 Care of the Child with Congenital Central Hypoventilation Syndrome 333
ventilation primarily by increasing respiratory rate, in association with increasing

limb pacing frequency on the treadmill. Gozal et al. demonstrated that passive
motion of the lower extremities during NREM sleep in six patients with CCHS
resulted in increased respiratory frequency and decreased end-tidal CO2 levels [12].
These findings suggest that CCHS patients may be at higher risk for hypoventilation
when they are physically still. One study of five patients with CCHS also demon-
strated that they increased ventilation with mental activities such as reading, solving
arithmetic problems, or playing video games [13].
A study of seven patients with CCHS during wakefulness demonstrated upward
shift of EEG signals just before inspiration (pre-inspiratory potential) suggestive of
supplementary motor area activation [14]. These potentials were present in a variety
of conditions including resting breathing, exposure to CO2, and inspiratory mechan-
ical constraints. In the control group, however, these pre-inspiratory potentials were
generally absent except for during mechanical constraint. These findings indicate
the existence of cortical mechanisms compensating for deficient generation of auto-
matic breathing in CCHS.
Clinical Presentation
CCHS is characterized by the clinical presentation of alveolar hypoventilation

with insensitivity to hypoxemia and hypercapnia, most pronounced during
sleep. Infants with CCHS typically present in the newborn period with intermit-
tent episodes of cyanosis or apnea, and most require mechanical ventilation
immediately after birth. As their oxygen saturation falls and their carbon diox-
ide level rises, affected infants demonstrate no increase in respiratory rate or
effort and usually do not arouse or appear distressed [15]. During sleep, infants
will appear to have regular but shallow respirations with reduced chest wall
movement, interspersed with periods of central apnea. Occasionally, infants
may present in the first few months of life with acute life-threatening events or
even frank respiratory arrest.
In many infants during the first few months of life, hypoventilation may be evi-
dent during both wakefulness and sleep. However, these patients may eventually
breathe adequately while awake, probably reflecting the development of sleep-wake
regulation or maturation of the respiratory and central nervous systems rather than
an improvement in their CCHS [16]. Some affected patients may continue to dis-
play symptoms of hypoventilation during quiet activities while awake and may
require daytime ventilatory support.
Symptoms of hypoventilation are more pronounced in times of illness or stress
because patients with CCHS are unable to demonstrate respiratory responses to
increased ventilatory demands. Thus, when faced with gas exchange abnormalities
(e.g., during a respiratory tract infection), children with CCHS do not manifest
signs of respiratory distress such as tachypnea, retractions, or nasal flaring. In some
cases patients with CCHS can present late with symptoms of end-organ damage,
such as cor pulmonale, seizures, developmental delay, or failure to thrive, from
chronic, unrecognized hypoxemia and hypercarbia. In one survey of almost 200

children with CCHS, developmental delays, including motor, speech, and learning
disabilities, were reported in 45 % [17].
Rarely, patients with CCHS survive into adulthood before presenting with symp-
toms of hypoventilation that are triggered by a minor respiratory tract infection or
general anesthesia. Other potential presenting symptoms of adult cases include epi-
leptic seizures, cognitive disabilities, and sleep apnea or in rare occasions after a
child is diagnosed with CCHS [1]. In such late-onset cases, there is frequently a
history of ventilatory disturbances in infancy that resolved spontaneously, e.g.,
breath-holding spells, and patients often have cognitive impairment [18].
Autonomic Dysfunction
Patients with CCHS often manifest symptoms of autonomic nervous system dysregu-
lation including temperature instability, excessive sweating, decreased perception of
discomfort and anxiety, and swallowing dysfunction. Periods of autonomic crises with
and without elevated urinary catecholamines have also been described [19]. Although
baseline heart rate does not differ from controls, the relative increase above the mean
heart rate at rest with exercise is attenuated, and heart rate variability is decreased
[20–22]. Cardiac arrhythmias, including sinus bradycardia and transient asystole up to
6.5 s, have also been reported [20]. One study of 39 patients with CCHS reported that
among three children who had R-R intervals greater than 3 s and did not receive a
cardiac pacemaker, two died suddenly [23]. Additionally, blood pressure in patients
with CCHS is lower during wakefulness and higher during sleep compared to controls,
indicating attenuation of the normal sleep-related blood pressure decrement [22].
Goldberg et al. documented ophthalmologic disorders in 27 of 37 children with CCHS,
most of whom had miotic pupils that reacted poorly to light [24].
Abnormalities of neural crest origin, also known as neurocristopathies, may be
present in patients with CCHS. Hirschsprung’s disease is present in approxi-
mately 16 % of cases of CCHS [17]. This is often severe, with 50 % of cases hav-
ing total colonic aganglionosis, compared to the general population with
Hirschsprung’s disease in whom 80 % have short segment forms [25]. Children
with CCHS who receive mechanical ventilation for 24 h a day are more likely to
have Hirschsprung’s disease [17].
Case reports of tumors of neural crest origin, including mediastinal or
abdominal neuroblastoma or ganglioneuromas, have been documented in asso-
ciation with CCHS [25–27]. Approximately 5 % of patients with CCHS will
have neural crest tumors although tumor-related deaths are uncommon [17, 28].
The tumors can present at variable ages with neuroblastoma typically present-
ing before age two years and ganglioneuromas presenting later as incidental
findings [28]. Tumors of neural crest origin occur more frequently in patients
with NPARMS, specifically missense or frameshift homozygous mutations of
the PHOX2B gene [29, 30]. Among patients with PARMs, only subjects with the
20/29 and 20/33 genotypes have been identified with neural crest tumors (gan-
glioneuromas and ganglioneuroblastomas) to date [7].
Late-Onset Central Hypoventilation Syndrome

with Hypothalamic Dysfunction
Late-onset central hypoventilation syndrome with hypothalamic dysfunction (LO-CHS)

has been reported in previously well children who present after infancy [31]. This syn-
drome was first described in 1965 and is distinct from CCHS [32]. Both CCHS and
LO-CHS can be associated with diseases of neural crest origin; however, features of hypo-
thalamic dysfunction are not seen in CCHS [31]. Features of hypothalamic function
reported in LO-CHS include hyperphagia, hypersomnolence, thermal dysregulation, emo-
tional lability, and endocrinopathies. The diagnostic term “rapid onset obesity with hypo-
thalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD)” has
also been used [33]. Clinical presentation can be varied with additional reported symptoms
of thermal dysregulation, pain hyposensitivity, behavioral disorders, strabismus, pupillary
anomalies, and tumors of neural crest origin [34]. A recent study of 23 children with this
syndrome demonstrated negative PHOX2B gene sequencing in all cases [33]. Thus, this
clinical presentation represents a syndrome clinically distinct from CCHS.
Evaluation and Diagnosis
A diagnosis of CCHS should be considered in all children with evidence of

hypoventilation without underlying cardiopulmonary, metabolic, neuromuscu-
lar, or brainstem dysfunction. Initial genetic testing should be performed with
the PHOX2B screening test, which will identify the mutation in 95 % of CCHS
cases [7]. If the screening test is negative but the patient’s phenotype supports
the diagnosis of CCHS, a PHOX2B sequencing test may detect a subset of
NPARMs [7]. Additionally, recent evidence indicates that further deletion/
duplication analysis can identify another subset of patients affected (<1 %) [35].
Table 17.1 Differential diagnoses of congenital central hypoventilation syndrome

Metabolic Pulmonary
Mitochondrial defects, e.g., Leigh’s disease Primary lung disease
Pyruvate dehydrogenase deficiency Respiratory muscle weakness, e.g.,
Hypothyroidism diaphragm paralysis, congenital myopathy
Neurologic Genetic
Structural abnormalities, e.g., Arnold-Chiari Prader-Willi syndrome
malformation, Moebius syndrome
Vascular injury, e.g., central nervous system Familial dysautonomia
hemorrhage, infarct
Trauma Sedative drugs
Tumor
Differential diagnoses for CCHS are wide and varied and should be ruled out
while genetic testing for CCHS is pending (Table 17.1). Investigations to con-
sider include chest radiograph, echocardiogram, and fluoroscopy of the dia-
phragm to identify any primary cardiopulmonary diseases or respiratory muscle
weakness. Pulmonary function testing may be performed in cooperative older
children. Infant pulmonary function testing, however, should be considered with
caution due to the increased risk of hypoventilation with sedation. Intracranial
lesions resulting in central hypoventilation can be identified by magnetic reso-
nance imaging of the brain. Metabolic screening should be considered when
clinical signs suggest inborn errors of metabolism.
Assessment of Hypoventilation
Children with a suspected diagnosis of CCHS should have comprehensive

studies of respiratory physiology during wakefulness, REM, and NREM sleep
to assess the degree of hypoventilation and the level of ventilatory support
required. Testing should include all aspects of routine polysomnography
including end-tidal/transcutaneous CO2 monitoring. Figure 17.1 shows differ-
ent patterns on polysomnography that may be observed in children with CCHS
[8, 36]. Ventilatory responses to hypoxia and hypercapnia during wakefulness
and sleep can be measured to confirm the diagnosis and are usually flat [37].
This testing is performed primarily as a research tool but at times may be use-
ful in establishing a diagnosis.
The severity or chronicity of the central hypoventilation should be assessed by
screening the patient for chronic respiratory acidosis and compensatory metabolic
alkalosis (bicarbonate levels) and polycythemia (hemoglobin levels). Echocardiogram
(ECG) and serum brain-type natriuretic peptide levels will determine if there is any
evidence of pulmonary hypertension or cor pulmonale as a result of chronic
hypoxemia.
Screening for Autonomic Dysfunction
Patients with CCHS and symptoms suggestive of autonomic dysfunction should be

investigated appropriately. Barium enema or rectal biopsy should be performed for
patients with constipation or abdominal distension to rule out Hirschsprung’s
disease. Chest and abdominal imaging should be obtained early if there is any
possibility of a neural crest tumor, particularly in patients with missense or frame-
shift mutations of the PHOX2B gene which correlate more frequently with this phe-
notype [29, 30].
Holter monitoring should be performed if there is clinical suspicion of cardiac

arrhythmias, including bradycardias, that may necessitate pacemaker insertion. An
ophthalmologic examination will identify any eye involvement and allow for early
intervention to avoid interference with learning. Other measures of autonomic test-
ing may be employed as clinically indicated, e.g. tilt testing to assess syncope [7].
Fig. 17.1 (a) Portions of a polysomnogram from an infant with congenital central hypoventilation
syndrome. In the left panel, the infant is awake with normal oxyhemoglobin saturation but is
hypoventilating slightly. At sleep onset (middle panel), end-tidal carbon dioxide levels begin to
rise and oxyhemoglobin levels begin to drop. When placed on supplemental oxygen (right panel),
the oxyhemoglobin levels normalize, but end-tidal carbon dioxide levels continue to rise (Marcus
CL. 2001. Sleep-disordered breathing in children. American Journal of Respiratory and Critical
Care Medicine. 164: 16–30. Official Journal of the American Thoracic Society. Reprinted with
permission of the American Thoracic Society. Copyright © 2013 American Thoracic Society). (b)
Polysomnogram epoch from an 8-year-old subject with CCHS during NREM sleep is shown.
Following ventilator disconnection (arrow), the subject had an immediate 24-s central apnea, fol-
lowed by an arousal. Cardiac oscillations are present on the airflow and PCO2 waveform channels.
Y-axis parameters; time axis, clock time (in s) is shown, with the epoch number superimposed;
C3-A2, C4-A1, O1-A2, and O2-A1 are EEG leads; LOC-A2 and ROCA1 are left and right elec-
trooculograms, respectively; CHIN submental EMG signal, CHEST chest wall motion, ABDM
abdominal wall motion, PNEUMFLO airflow measured with a pneumotachograph, PN pressure
measured at the tracheostomy site, CAP end-tidal PCO2 waveform, ETCO2 end-tidal PCO2 value,
TCCO2 transcutaneous PCO2, SAO2 arterial oxygen saturation, PWF oximeter pulse waveform,
LLEG left tibial EMG, RLEG right tibial EMG (Huang J et al. J Appl Physiol 2008. Am Physiol
Soc, with permission)
Management
Goals of Care
The goal of treatment for CCHS is to ensure adequate oxygenation and ventilation
during both wakefulness and sleep. This will improve long-term prognosis by reduc-
ing the risks of cor pulmonale and neurological insult from chronic hypoxemia.
Ventilation
The natural history of CCHS is that ventilatory responses to hypoxemia and hyper-
carbia do not improve over time. All newly diagnosed infants and children will
require some form of assisted ventilation in the home setting. The proportion of all
patients with CCHS who require ventilatory support during both wakefulness and
sleep varies from 6 to 33 % in different study populations [16, 21]. Oxygen admin-
istration alone will improve oxygen saturation (SpO2) levels but will not prevent
hypoventilation and the ensuing complications. Respiratory stimulants including
theophylline, dexamphetamine, and clomipramine have not been shown to improve
ventilatory drive in this patient population [38, 39]. Objective measurements of
adequate ventilation, including pulse oximetry levels, should be monitored in the

home. Ventilators are adjusted to maintain CO2 levels ideally between 30 and
40 mmHg and SpO2 ≥ 95 % [7]. Maintaining low-normal CO2 levels ensures that
patients with CCHS have some ventilatory reserve when challenged during their
daily activities, e.g., exercise, and when ill with intercurrent infections. Ventilator
settings should be adjusted regularly during polysomnography or hospital admis-
sion, particularly in young children who are growing rapidly or patients who are
symptomatic. Establishing optimal ventilator settings will help prevent neurocogni-
tive dysfunction and avoid the development of atelectasis.
A variety of modalities of home ventilation are available to the patient with
CCHS including portable positive pressure ventilation via tracheostomy, nonin-
vasive ventilation (NIV) via nasal mask, diaphragmatic pacing, and, rarely, nega-
tive pressure ventilation. The advantages and disadvantages of each modality
should be discussed with the family prior to decision-making (Table 17.2).
Factors that determine the choice of technique include efficacy, practicality, psy-
chosocial acceptance, complications, and cost. Ideally, the choice of ventilation
should provide optimal technology to meet the patient’s lifestyle needs.
Transition of a patient with CCHS to a home portable ventilator should be estab-
lished in the hospital under the supervision of an expert medical team. Discharge
planning should include arrangements for the home ventilator, a backup ventilator,
and home nursing support. In addition, a pulse oximeter and end-tidal CO2 monitor
in the home allow for objective measurements of any clinical deterioration or
change in ventilatory requirements.
During early infancy and childhood, patients with CCHS typically require more
ventilatory support than older children and adults. This is because younger infants
typically sleep for longer periods, are more prone to infections, and overall have
more immature respiratory systems, which contribute to more instability in
ventilation. It should be highlighted, however, that although there may be some
maturation of the respiratory system, the patient never develops ventilatory
responses and cannot be weaned from nocturnal ventilatory support. In a study of
196 patients with CCHS, two-thirds were able to adequately maintain ventilatory
homeostasis during waking hours by age 12 months, while another quarter of the
children were older than one year before they achieved such an ability [17]. This
study also revealed a reduced need for intervention by medical professionals
with age [17]. A greater healthcare burden was present among the 24-h
ventilator-dependent patients; however, the need for hospitalization decreased
with age in all patients [17].
The weaning of daytime assisted ventilation is best accomplished by sprint
weaning where the child is removed from the ventilator for short periods of time
during wakefulness [15]. The child with CCHS may not exhibit any signs of respira-
tory distress and so must be carefully monitored noninvasively during sprints to
prevent hypoxemia or hypercapnia. The duration and frequency of sprints may be
increased as tolerated, but progress will be hampered if performed too rapidly or
without meticulous supervision.
Table 17.2 Advantages and disadvantages of ventilator modalities for congenital central
hypoventilation syndrome
Noninvasive Diaphragmatic Tracheostomy and positive
ventilation pacing pressure ventilation
Advantages • No surgical • Improved • Most reliable method
procedure patient for ensuring adequate
• Ventilator is mobility ventilation Secure
simpler to operate • May permit airway during illness
• Less expensive tracheal • Can be used
• May permit decannulation continuously
tracheal • Can use higher settings
decannulation than with noninvasive
ventilation
Disadvantages • Difficult to find • Specialized • Mobility with home
appropriate surgical ventilators is limited if
interfaces for procedure used while awake
younger patients • May need • Complications of
• Difficult to ensure repeat surgery tracheostomies
placement of for mechanical including recurrent
interfaces at sleep failure laryngeal nerve injury,
onset in young • Risk of hemorrhage, infection,
children without infection accidental
established sleep/ • Risk of upper decannulation, speech
wake cycles airway problems,
• Difficulty obstruction if tracheomalacia, and
triggering trachea granulation tissue
machines in decannulated
young children • Must have
• Need to overcome access to team
the added load of specialized in
upper airway care of pacers
resistance
• Nasal symptoms,
aerophagia, and
skin breakdown
• Limited
portability
Positive Pressure Ventilation via Tracheostomy
Positive pressure ventilation (PPV) via tracheostomy is the commonest mode of

ventilation used, particularly in infants and younger children. Many physicians
agree that it is the safest form of ventilation to ensure adequate ventilation and oxy-
genation during the first years of life while the respiratory and central nervous sys-
tems are maturing [7]. While beneficial in older children, use of NIV is avoided in
younger infants because of potential problems including difficulty with mask fit-
ting, difficulty with triggering/cycling NIV ventilators, and the propensity of infants
to take frequent naps. Older patients with tracheostomies may opt for decannulation
and transition to NIV. Home positive pressure ventilators are portable and can be
battery operated, improving mobility for the patient. Uncuffed tracheostomy tubes
are typically used to permit a leak large enough to use a Passy-Muir valve, which
encourages speech development, and to avoid subglottic stenosis. Pressure plateau
ventilation or pressure control modes can be used to accommodate leak, compen-
sate for tubing compliance, and ensure sufficient lung inflation.
While PPV via tracheostomy is generally a safe technique, there are a number of
longer-term complications associated with it, including delayed speech and lan-
guage development, colonization and infection of the lower respiratory tract, and
tracheal granulation and stenosis [40]. There is also the low (≤6 %) but definite risk
of tracheostomy-related death from cannula obstruction or accidental decannulation
[41]. Due to the risk of complications, these patients will require caregivers avail-
able at all times that are trained to change and manage tracheostomies. This can
further increase financial and social burdens on the patients and their families.
Despite the disadvantages, an epidemiological survey involving 196 patients
with CCHS from 19 countries reported that more than 60 % of patients with CCHS
were ventilated via tracheostomy [17]. In this study, the transition to NIV typically
occurred between the ages of 6 and 11 years. A recent Japanese study of 37 patients
with CCHS reported a similar proportion of 57 % ventilated by tracheostomy [42].
Noninvasive Bi-level Positive Airway Pressure
This is a mode of NIV via nasal mask or nasal prongs that does not require trache-
ostomy. These machines provide variable continuous flow via a blower (fan) and
have a fixed leak that prevents CO2 retention and can compensate for leaks around
the mask. When used in the timed/pressure control mode, they guarantee breath
delivery in children with CCHS who cannot generate adequate large spontaneous
breaths to trigger the ventilator [7]. NIV is not, however, suitable in isolation for
patients requiring 24-h ventilation because it can interfere with daytime activity.
Prolonged daily use of NIV can cause significant facial skin breakdown, nasal
deformity, and injury to the eyes. Midfacial hypoplasia and dental malocclusion
may occur in younger patients [43, 44]. One report of the use of NIV in two
infants reported the development of class 3 dental malocclusion in both patients,
after about 2 years, necessitating addition of negative pressure ventilation to
reduce the duration of mask ventilation [45]. Presumably, midfacial hypoplasia is
due to the chronic pressure exerted by the headgear and face mask unit against the
malleable nasal, zygomatic, and maxillary areas in young patients and appears to
be less of an issue with modern interfaces [44]. The severity of these complica-
tions can be reduced by alternating between nasal masks and nasal pillows, using
customized masks, and avoiding tight-fitting interfaces [46]. Villa et al. described
successful correction of midface hypoplasia with an orthodontic device in a
7-year-old child with CCHS who had been ventilated with a nasal mask from the
age of 9 months [44].
Other potential problems encountered with use of NIV in children with CCHS
include gastric overdistension resulting in gastroesophageal reflux. In addition,
incorrect positioning of the nasal interface or oral leakage during sleep could cause
pressure losses and reduce the effectiveness of NIV [47].
Another frequent challenge to the successful use of NIV is poor patient
adherence to treatment. One study reported that adherence to NIV in children and
adolescents with obstructive sleep apnea was related primarily to family and demo-
graphic factors rather than severity of apnea, pressure levels, or psychosocial func-
tioning [48]. Important supportive mechanisms to promote NIV adherence include
education of both parents and patients along with anticipatory guidance for com-
mon problems, side effects, and device troubleshooting [49]. Another interven-
tion to promote NIV adherence is to ensure positive first experiences for patients
with NIV, including during in-laboratory or in-hospital treatment trials [49].
The first successful case of NIV use for CCHS was reported in 1987 in a 6-year-
old child who had previously received mechanical ventilation [50]. A 2004 survey
of 196 patients with CCHS (age range 0.4–38 years, mean 10.2 years) reported that
55 (28.1 %) were using NIV alone [17].
Some patients have been successfully transitioned from PPV via tracheos-
tomy to NIV support upon reaching school age when the clinical course is more
stable and the child is able to accept mask ventilation and cooperate fully.
Limitations to transition include the availability of suitable and comfortable
nasal interfaces for the child. In cases where there is pressure loss because of
open mouth breathing, the concomitant use of chin straps or full face masks can
permit adequate ventilation. One must also consider that, when transitioning to
NIV from PPV via tracheostomy, there will be the added load of upper airway
resistance to overcome, which may necessitate higher ventilator settings.
Evaluation of the upper airway for possible tonsillectomy and adenoidectomy
may be indicated in patients requiring high settings. NIV generally does not
provide pressures as high as those provided by invasive ventilators, and children
may require intubation and greater levels of ventilatory support during acute
respiratory illnesses.
Patients with CCHS may have life-threatening events if not adequately ventilated
during sleep; thus, documentation of the adequacy of NIV settings is essential before
chronic NIV treatment can be safely initiated [51]. As with PPV, optimal NIV set-
tings should be determined and titrated periodically in the sleep laboratory. The
American Academy of Sleep Medicine published guidelines for sleep center adjust-
ment of NIV in patients with stable chronic alveolar hypoventilation syndromes
including those with central respiratory control disturbances [51]. The underlying
concept is that a successful NIV titration is one in which there is an optimized trade-
off between increasing pressure to yield efficacy in supporting ventilation and
decreasing pressure to minimize emergence of pressure-related side effects [51].
One recent case report described a 16-year-old female with CCHS who was suc-
cessfully transitioned to a new modality of NIV, average volume-assured pressure
support (AVAPS), that automatically adjusts the pressure support level in order to
provide a consistent tidal volume [52]. AVAPS has been recently introduced as a
new additional mode for bi-level pressure ventilation that automatically adjusts the
pressure support level to provide a consistent tidal volume. Studies on its physio-
logic and clinical effects are few and more are needed [53, 54].
Negative Pressure Ventilation
Negative pressure ventilation (NPV) causes inspiration by generating a negative

inspiratory pressure around the chest and abdomen. The popularity of NPV, how-
ever, has been limited by the risk of obstructive sleep apnea because of lack of
synchrony between vocal fold opening and thoracic inspiratory efforts. In one
report, additional mask CPAP was used successfully in cases of upper airway
obstruction during NPV [55].
Negative pressure ventilators are bulky and not portable, and some necessitate
that the patient remains in the supine position. In addition, the chest shells or wraps
currently available can cause discomfort, skin breakdown, and leaks that make their
use unacceptable in many cases. NPV has been used rarely since the advent of PPV
and NIV. It may be an acceptable alternative for those requiring ventilation during
sleep if other modes of ventilation are unsuitable. In rare cases, it has permitted
decannulation in patients with CCHS.
Diaphragmatic Pacing
This mode of ventilation involves electrical stimulation of the phrenic nerve that
results in diaphragmatic contraction. In 1972, Glenn et al. first demonstrated that
electrical stimulation of the phrenic nerves resulted in rhythmic contraction of the
diaphragm (pacing) and could provide full-time, long-term ventilatory support for
an adult patient with acquired central hypoventilation [56]. In 1978, Hunt et al.
reported the first three cases of diaphragmatic pacing in infants with CCHS [57].
Typically, pacing during the day and PPV by mask or tracheostomy at night
affords more daytime mobility for active children who require ventilation 24 h per
day. This can both improve quality of life and optimize neurodevelopmental prog-
ress. Pacing has not been used for 24 h a day because of a theoretical concern of
damage to the phrenic nerves. Patients with CCHS who may best benefit from dia-
phragm pacing include those with no or mild intrinsic lung disease with preserved
phrenic nerve-diaphragm axis integrity and presence of a tracheostomy at least dur-
ing the initiation of pacing [58].
Diaphragmatic pacing requires surgical implantation of bilateral phrenic nerve
electrodes, in the intrathoracic or intracervical segments of the nerve. The cervical
approach in the lower neck is a less desirable site for placement because the phrenic
nerve forms a complex of rootlets that only unite in the thorax. Thus, the cervical
approach may only capture 75 % of the fibers in the neck [59]. Bilateral receivers
are implanted subcutaneously that transmit radio frequency signals from a battery-
operated external pulse generator to the phrenic nerve electrodes. The patient also
wears an energy transfer coil on the skin over the receiver. When a signal arrives
from the external pulse generator, it is converted via the subcutaneous receivers to
an electrical current that stimulates the phrenic nerve (Fig. 17.2). Settings on the
external generator include respiratory rate and electrical voltage and are adjusted to
give enough tidal volume to allow for adequate oxygenation and ventilation.
The goal with diaphragm pacing is to minimize the electrical stimulation while
providing optimal ventilation and oxygenation. Pacing is typically initiated 4–6
weeks after surgical implantation to allow tissue reaction around the electrodes to
stabilize [15]. Training of the muscle fibers is necessary to sustain pacing for the
required 12–16 h per day, and a period of 3–4 months is usually required to attain
full pacing [15]. In patients with CCHS who also have cardiac pacemakers, it is
important to minimize the potential for electromagnetic interference by ensuring
that the cardiac pacemaker is bipolar [7].
Potential complications of pacing include equipment failure, infection (e.g.,
empyema), and late injury due to fibrosis or tension on the phrenic nerve [60]. In
Fig. 17.2 (a) Diaphragmatic pacing device showing the external pulse generator and energy trans-
fer coils. (Reprinted from Paediatric Respiratory Reviews, 2011 Dec; 12 (4):253–63. Healy F,
Marcus CL. Congenital central hypoventilation syndrome in children, pages 253–63, Copyright
2011, with permission from Elsevier). (b) Patient with congenital central hypoventilation syn-
drome post tracheal decannulation who uses nocturnal diaphragmatic pacing. Here she is wearing
the energy transfer coils of her diaphragmatic pacer and holding the external pulse generator dur-
ing setup for a titration polysomnogram (Reprinted from Paediatric Respiratory Reviews, 2011
Dec; 12 (4):253–63. Healy F, Marcus CL. Congenital central hypoventilation syndrome in chil-
dren, pages 253–63, Copyright 2011, with permission from Elsevier)
one study of 33 infants and children using diaphragmatic pacing, receiver failure
was the most common cause of internal component failure [61]. However, the
receiver can be replaced without thoracotomy because it is located in a subcutane-
ous pocket. Longevity of equipment should improve as hardware becomes more
refined over time. Flageole et al. reported their longest survivor to date was paced
for 21 years [59]. This patient had successfully tolerated seven separate procedures
for receiver or wire replacement.
Pacing at night may permit tracheal decannulation. However, in some decannu-
lated patients, obstructive sleep apnea occurs because vocal fold opening does not
occur with a paced inspiration (Fig. 17.3). In some cases this may be overcome by
adjusting settings on the pacers to lengthen inspiratory time and/or decrease the
force of inspiration. If the obstruction persists, then these patients may be better
managed by NIV. Patients should be monitored by polysomnography to ensure that
they do not have obstructive sleep apnea related to diaphragmatic pacing.
All patients with CCHS who rely on diaphragm pacing should have an additional
backup diaphragm pacer transmitter already set to their physiological requirements.
An additional advantage of a second transmitter is that, for children who are paced
during the day, the backup transmitter can be set to deliver optimal settings for
exercise. This allows the child to use one transmitter during school and the other
Fig. 17.3 Thirty-second epoch from a titration polysomnogram image from the patient with con-
genital central hypoventilation syndrome in Fig. 17.2b who had previously been decannulated and
was using nocturnal diaphragmatic pacing. During the study the patient experienced persistent
partial upper airway obstruction while paced, with stridor, paradoxical breathing, and oxyhemo-
globin desaturation. C3-A2, O1-A2, C4-A1, O2-A1 electroencephalogram channels, LOC-A2 and
ROCA1 left and right electrooculograms, CHIN submental EMG, EKG electrocardiogram, NPAF
nasal pressure airflow, CHEST thoracic movement, ABDM abdominal movement, CAP capnogra-
phy, ETCO2 end-tidal carbon dioxide level (torr), SAO2 arterial oxygen saturation, PWF oximeter
pulse waveform, TCCO2 transcutaneous carbon dioxide level (torr), RLEG right tibial EMG, LLEG
left tibial EMG (Reprinted from Paediatric Respiratory Reviews, 2011 Dec; 12 (4):253–63. Healy
F, Marcus CL. Congenital central hypoventilation syndrome in children, pages 253–63, Copyright
2011, with permission from Elsevier)
transmitter during a moderate level of age-appropriate activity (settings for each

should be ascertained during physiologic assessments at a center with expertise in
diaphragmatic pacing) [7].
Diaphragmatic pacers can work well, but patients must have access to teams with
the necessary expertise in maintaining them. This includes staff with the ability to set
the pacers with a digital oscilloscope and surface electromyogram recordings. In
addition, the implantation of the internal components (receivers, connecting wires,
and phrenic nerve electrodes) requires thoracic surgery and should only be implanted
by experienced pediatric surgeons at a center with the appropriate expertise [7].
Ongoing Care and Monitoring

Screening for Medical Comorbidities Associated with CCHS
Children with CCHS require input by a wide variety of medical specialists due to
the array of associated medical conditions including autonomic dysfunction and
sequelae of ventilatory insufficiency and hypoxemia. Neurocognitive assessments
should be considered as patients with CCHS have an increased risk of learning dis-
abilities and developmental delay [62, 63]. Most children with CCHS have adequate
growth and nutrition, but some may have swallowing incoordination requiring tem-
porary gastrostomies [15].
Genetic Counseling
Genetic counseling should be offered to the parents of children diagnosed with

CCHS irrespective of whether a genetic mutation is identified or not. This will
provide information on the nature, autosomal dominant inheritance pattern, and
implications of this disorder to help them make informed medical and personal
decisions. If a specific PHOX2B mutation is identified in their child, parents should
be offered testing to determine their own risk for later-onset CCHS or mosaicism
[28]. Risk to siblings and other family members will depend on the genotype status
of the parents.
Home Care and Nursing Support
The majority of care for children with CCHS occurs in the home setting where
parents can easily be overwhelmed by sophisticated medical equipment and
coordination of appointments with multiple medical professionals. Children with
CCHS are a particularly vulnerable group who require skilled care and monitor-
ing, particularly at sleep onset when they could suffer severe hypoventilation or
even complete respiratory arrest if ventilation is not adequately supported.
Additionally, these children do not typically develop fever, tachypnea, or dyspnea
in response to respiratory tract infections, even pneumonia, and thus careful
assessment is necessary during illness [13, 64]. Caregivers need to be well edu-
cated about CCHS, and nursing support, if available, can be very helpful. One
study reported that, of 196 families with a child with CCHS, 49.5 % had no nurs-
ing support at night [17]. Access to other skilled healthcare professionals includ-
ing social workers, speech therapists, physical therapists, and special education
teachers may be needed to optimize care.
Social Issues and Quality of Life
Most children with CCHS will have a good quality of life if diagnosed early and
managed rigorously. There should be minimal restrictions on daytime activity; how-
ever, children with CCHS lack the appropriate ventilatory and autonomic responses
to heavy or extended exercise [65]. If swimming, they should be carefully super-
vised regardless of the presence or absence of a tracheostomy (swimming is not
recommended for those with tracheostomies) [7]. Children with CCHS do not derive
discomfort from breath-holding and are therefore at heightened risk of drowning.
Normal risk-taking behavior during adolescence places CCHS patients in great

danger. Sedative medications and central nervous system depressants such as alco-
hol or illicit drugs should be avoided as much as possible, as they worsen hypoven-
tilation. Chen et al. reported three cases of young adults with CCHS who had severe
adverse events related to alcohol use, including coma and death [66]. Parents and
patients should be counseled about these specific risks prior to and throughout ado-
lescence. Patients should wear MedicAlert bracelets to warn paramedical and medi-
cal staff in case of emergency.
In the majority of cases, CCHS does not cause significant levels of psychological
distress in caregivers, who typically report good coping resources and high levels of
motivation to provide care [17, 63]. Some studies do, however, report higher levels
of marital discord [63].
Perioperative Care
Children with CCHS will require ventilatory support during sedation or gen-
eral anesthesia. Anesthetic care for the child with CCHS can be challenging. To
avoid the need for additional ventilation during wakefulness and prolonged
hospitalization, anesthetic drugs with the shortest half-life should be chosen,
e.g., remifentanil, nitrous oxide, and sevoflurane [67]. For other procedures,
the use of regional anesthesia techniques may avoid the central effects of anes-
thetic drugs. Cardiovascular complications of CCHS including cor pulmonale
and autonomic dysfunction may also impact perioperative care. Metabolic
alkalosis should be prevented as this can further inhibit central respiratory
drive. Drugs with negative chronotropic effects or direct effects on blood pres-
sure should be avoided.
Pregnancy
Increasing numbers of patients with CCHS are now progressing to parenthood

themselves [68, 69]. Although most current cases of CCHS represent de novo
mutations in the PHOX2B gene, some cases are inherited in an autosomal domi-
nant fashion. If both parent and children are affected, this creates greater chal-
lenges for the parent who must monitor the ventilatory needs of both themselves
and their child. Prenatal testing by amniocentesis for PHOX2B allows for antici-
pated cases to be delivered in appropriate tertiary centers that can manage ventila-
tion of both mother and child. Pregnant women with CCHS will require frequent
physiological monitoring because they do not have the central respiratory drive to
meet the increased respiratory load caused by the enlarging uterus [68].
Diaphragmatic pacing is poorly tolerated after Cesarian section due to the abdomi-
nal incision, and alternative means of ventilation will be required [68].
Long-Term Prognosis
Long-term follow-up of patients with CCHS and neurodevelopmental outcome

reveal a broad range of results with a great deal of variability, usually correlating
with the degree of severity of their CCHS [15]. Mortality rates ranging from 8 to
38 % have been documented in various CCHS patient cohorts [21, 42, 58, 63]. The
main causes of death include cor pulmonale, pneumonia, and aspiration.
With an increasing awareness of the disease entity, patients will be recognized and
treated earlier than in the past. Advancements in home ventilation and monitoring
abilities as well as vigilant ongoing patient assessment and equipment maintenance by
medical teams will further improve prognosis. As these children survive to adulthood,
the development of transition programs with age-appropriate support will contribute
to independent lifestyles, careers, and family lives for this complex population.
Future Directions
As the prognosis for patients with CCHS improves, there remains, however, the
need to ensure that ventilatory requirements are addressed with ongoing research
into new, more acceptable forms of artificial ventilation. The deficiencies in current
methods of ventilation are most apparent in those children who require support 24 h
a day. During varied levels of daytime activity and exercise, these patients may
become hypercapnic and hypoxemic but cannot adequately compensate because of
fixed artificial ventilatory support with either diaphragmatic pacers or a mechanical
ventilator.
At present the only effective therapeutic option for patients diagnosed with CCHS
is mechanical ventilation. One potential treatment was recently reported in two women
with CCHS who demonstrated improved ventilatory responses to hypoxia and hyper-
capnia after taking the progestin contraceptive, desogestrel [70]. The exact mechanism
of action of desogestrel remains unclear, but it has been postulated that it may stimulate
or activate “alternative” central and/or peripheral chemosensitive neural circuits [70].
Further trials are warranted to determine the true potential of this treatment option.
Since the discovery of the PHOX2B mutation, there has been increasing interest
in the possibility of a genetic therapy for CCHS. The severity of the CCHS pheno-
type correlates with the length of polyalanine expansions, which ultimately lead to
the formation of toxic intracytoplasmic aggregates and impaired PHOX2B-mediated
transactivation [71]. A recent study by Zanni et al. identified two molecules,
17-AAG and curcumin, that were effective in vitro in counteracting these pathologi-
cal effects [71]. The ultimate goal of such research is to identify medications that, if
initiated in early infancy or even in utero, could modify disease progression and
avoid the need for mechanical ventilation, permitting significant improvements in
quality of life, morbidity, and mortality for these patients.
Continuing investigation of the genetic intricacies of this syndrome is needed,

with ongoing attempts to correlate the genotype-phenotype relationship and improve
patient care and prognosis. In addition, the presumed genetic etiology of patients
with late-onset central hypoventilation and hypothalamic dysfunction remains to be
determined. As with any complex illness, further research, including autopsy stud-
ies using new molecular technologies, will help to define the anatomical and physi-
ological features of this syndrome.
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Index
A B
Academic Pediatric Association (APA), 127 “Bad/noncompliant” family, 132
Achondroplasia, 269 Bi-level-PAP therapy, 156
Adaptive servo-ventilation (ASV), 263 Bilevel positive airway pressure (BLPAP), 263
Adenotonsillectomy (AT), 253 Bronchodilators/beta adrenergic agonists,
Aerosol delivery 321–322
generators Bronchopulmonary dysplasia (BPD)
DPI, 220 definition, 299
nebulizers, 219 mortality, 300
pMDI, 220 prevalence, 299
invasive mechanical ventilation respiratory phenotypes
metered-dose inhalers, 221–224 large airway disease, 303
nebulizers, 224–227 lung parenchymal disease, 301
ventilator and tracheostomized patients, small airway disease, 302
227–231 vascular disease, 301
mechanisms, 218 risk factors, 299
noninvasive mechanical ventilation tracheostomy placement and home
cognitive abilities and acceptance, 234 ventilator support, 300
metered-dose inhaler, 231–232 ventilator management
nebulizer, 232–234 aspiration, 307
parameters, 218 caregivers, 307
Affordable Care Act, 133 decannulation, 305
Alveolar ventilation, 19 home monitoring equipment, 306
American Academy of Family inpatient weaning, 305
Physicians, 158 invasive ventilation, 303
American Academy of Pediatrics (AAP), 125, medical home, 307
153, 158, 213, 254 noninvasive ventilation, 303
American Academy of Sleep Medicine, 150 outpatient weaning, 305
American College of Physicians, 158 polysomnography, 305
American Thoracic Society (ATS), 91 pulmonary exacerbations, 307
Aqpnea alarm, 191 supplemental oxygen therapy, 304
Autonomic dysfunction, 334 tracheostomies, 306

Respiratory Medicine, DOI 10.1007/978-1-4939-3749-3
356 Index
Bronchopulmonary dysplasia (BPD) (cont.) Center for Medicare & Medicaid Innovation,
training, 306 133–134
ventilator strategies, 303 Centers for Medicare and Medicaid Services
ventilator weaning, 304 (CMS), 102
Central pattern generator (CPG), 9
Chiari malformation, 271
C Children and youth with special healthcare
Cardiopulmonary resuscitation (CPR), 75 needs (CYSHCN). See also
Cardiorespiratory monitors, 208–209 Care model
Care mapping, 129, 130 definition, 123
Care models MCHB, 133
co-management Chronic invasive mechanical ventilation
PCP and specialist as co-manager, 138 child and family chronic care, 66–67
PCP as primary manager, 137 infants, cognitive deficit, 67, 68
specialist as primary manager, 138 informed consent (see Informed consent)
complex care services, 138 initiation of, 58
family-centered, community-based system teenagers with intact cognition, 67, 68
of care, 123 Chronic mechanical ventilation
FCC home ventilators
importance of, 131 characteristics, 49–51
misconception, 132 complications, 51–52
partnership approach, 132 mechanics of breathing, 38–41
“person-first” language approach, 132 modes of
principles of, 131 CMV, 41, 42
healthcare system CPAP, 42
care mapping, 129, 130 CSV, 42–43
CYSHCN, family-centered, IMV, 44
community-based system of leaks, 47
services, 128 neuromuscular weakness, 46
family support, 129, 130 obstructive disease, 48
medical complexity, 128, 129 one home ventilator, 49
Wagner’s chronic care model, 127 PSV, 43–44, 46–48
MCHB, 132–135 SIMV, 45
medical home tracheostomy placement, 45
AAP definition, 125 positive pressure ventilation via
and primary care, 125 tracheostomy, 52–53
CYSHCN, 125 ventilator-dependent patients (see
deliverables, 126 Ventilator-dependent patients, home)
five D characteristics, 127 ventilator settings, 38–41
ideal care model, 124 Chronic sorrow, 130
joint PCMH, 126 CNS function
Medical Home Index, 125 AT hypertrophy, 272
pulmonary team, 124 CCHS, 271
specific questions, 126 cerebral palsy, 271
operationalizing, 135–137 Chiari malformation, 271
pulmonologist and PCP MPS, 272
care plan goals with family, 140 neuromuscular disorders, 271
information sharing, 140 Community integration, 112
role clarification, 139, 140 Complex care services, 138
routine visit schedule, 140 Comprehensive primary care, 126
upon discharge, 139 Congenital central hypoventilation syndrome
written care plan and red (CCHS)
flags, 140 clinical presentation
Caregiving burden, 122 alveolar hypoventilation, 333
Index 357
autonomic dysfunction, 334 Down syndrome, 269

hypoventilation, 333 Pierre Robin sequence, 269
LO-CHS, 335 PWS, 270
differential diagnosis, 335, 336 Cuffed tracheostomy tubes, 149
evaluation and diagnosis
autonomic dysfunction, 336–337
hypoventilation, assessment of, D
336, 337 Department of Health and Human Services, 158
future aspects, 349–350 Diaphragmatic pacing (DP), 319–321, 343–346
long-term prognosis, 349 Diffusing capacity of the lung for carbon
ongoing care and monitoring monoxide (DLCO), 289
genetic counseling, 347 Do Not Resuscitation (DNR), 76
home care and nursing support, 347 Down syndrome, 269
medical comorbidities, 346–347 Dry powder inhalers (DPI), 220
perioperative care, 348 Duchenne muscular dystrophy (DMD), 7, 284
pregnancy, 348
social issues and quality of life,
347–348 E
pathophysiology Echocardiogram, 324
genetics, 331–332 Expiratory positive airway pressure (EPAP),
mechanoreception, 332–333 263, 275
sleep state, effect of, 332
treatment, 338
ventilation F
discharge planning, 339 Family caregivers, 168
DP, 343–346 Family care session, 106
duration and frequency, 339 Family care stay, 106
maintaining low-normal CO2 levels, 339 Family-centered care
modalities, 339, 340 importance, 131
noninvasive bi-level positive airway misconception, 132
pressure, 341–343 partnership approach, 132
NPV, 343 “person-first” language, 132
objective measurements, 338 principles, 131
PPV, 340–341 Family-centered, community-based system of
Continuous mandatory ventilation (CMV), services, 128
41, 42 Family-centered research, 73
Continuous positive airway pressure (CPAP) Forced vital capacity (FVC), 155
definition, 244
functional correlation, 244–245
key features, 242, 244 G
patterns, 245, 246 Gastroesophageal reflux disease (GERD), 258
predictors Gastrostomy tube, 156
age, 246–247 Geometric standard deviation (GSD), 218
barriers, 248
comorbidity, 247
disease modification, 248 H
parent and family factors, 247–248 Health Resources and Services
technical variables, 248–249 Administration, 123
Continuous spontaneous ventilation (CSV), Heated humidification system, 200–201
42–43 High-flow nasal therapy (HFNT), 28
Craniofacial malformations and genetic Home ventilation, 122, 123, 137
disorders Home ventilator
achondroplasia, 269 alarm
craniosynostosis, 268 aqpnea alarm, 191
358 Index
Home ventilator (cont.) home medical equipment and supplies,

disconnect, 192 102, 103
fatigue, 189 home nursing, 103, 104
high exhaled volume alarm, 191 multidisciplinary team approach
high-pressure alarm, 190, 191 communication with caregivers, 95–97
low battery, 192 composition, 94
low exhaled minute volume, 190 responsibilities, 95
low power/power failure alarm, 192 outpatient care
low-pressure alarm, 189–190 child life education specialists, 112, 113
settings, 187, 188 medical team and clinic visits, 114, 115
volume level, 188 outpatient medical team and clinic
battery, 193, 194 visits, 114
breathing circuit, 192 school-based education preparation,
emergency and disaster preparedness, 212 113, 114
equipment pre-discharge criteria
identifying and troubleshooting available financial resources
problems, 211 assessment, 101
resuscitation bag, 210 home environment evaluation, 99–101
suction machine, 210 home equipment and nursing care
future research, 213 availability, 101
grounded electrical outlets, 187 identification and assessment of
humidification caregivers, 99
active/passive methods, 199 medical stability of child, 98
artificial airway, 198 PCP, 101, 102
heated humidification system, 200–201 pulmonologist, 102
heated system, 200–201 preparing caregivers
NIV, 202 education, 105, 106, 108
interface emergency plan, 110, 111
invasive/noninvasive, 194 expectations establishment, 105
noninvasive ventilation interfaces, in-hospital stays, 106, 108, 109
195–198 transportation plan, 110
tracheostomy tube, 194 preparing home, 111, 112
mechanical ventilator malfunction, 186–187 risk
microprocessor-driven ventilators, 187 financial burden, 92, 93
monitoring inadequate home nursing care, 91
apnea monitors, 208–209 lack of community, 92, 93
PETCO2, 208 mortality, 91
pulse oximeter, 207–208 Hypoventilation
oxygen alveolar ventilation, 19
CCHS and respiratory muscle carbon dioxide production (VCO2), 19
weakness, 203 CCHS, 21
cylinders, 206 central sleep apnea, 20
liquid system, 203–205 neuromuscular disease, 22
oxygen concentrators, 205–206 noninvasive positive pressure ventilation
preventive maintenance, 187 benefits of, 31
Hospice care, 77 bi-level positive airway pressure, 27–28
Hospital to home complications, 31–32
alternative sites of care, 93 CPAP, 26–27
benefits, 90 during wakefulness, 29–30
discharge barriers, 116, 117 future aspect, 32
discharge day HFNT, 28
communication expectations, 115 initiation of, 30
transportation and arrival home, 115, 116 obstructive sleep apnea, 23–25
future research, 117 peripheral/central nervous system, 20, 21
Index 359
upper airway obstruction, 20 quality of life improvement, 3

ventilatory control, 19, 20 respiratory control, 9
Hypoxic pulmonary vasoconstriction, 153 respiratory motor neurons, 7
respiratory muscle function, 7
scoliosis, 8
I temporizing device, 6
Individuals with Disabilities Education Act Low-pressure alarm, 189–190
(IDEA), 113 Lung parenchymal disease, 301
Influenza vaccination, 153
Informed consent
bridge/destination, 59 M
clinical care team, 63 Mass median aerodynamic diameter
community support, 61 (MMAD), 218
families, 62, 64 Maternal and Child Health Bureau (MCHB),
nonclinical factors, 59–61 94, 123, 132–135, 158
palliative care, 63 Mechanoreception, 332–333
parents, 62, 66 Medical Home assessment scores, 126
tracheostomy, 64 Medical Home Index, 125
Inspiratory positive airway pressure (IPAP), 263 “Medical Home” provider, 141
Intermittent mandatory ventilation (IMV), 44 Mucopolysaccharidosis (MPS), 272
J N
Jet nebulizers, 219 Nasal expiratory positive airway pressure
Joint principles PCMH, 126 (nEPAP), 275
National Center for Medical Home
Implementation, 140
L National Committee for Quality Assurance
Large airway disease, 303 (NCQA), 126, 158
Late-onset central hypoventilation syndrome National Survey of Children with Special
with hypothalamic dysfunction Healthcare Needs, 133
(LO-CHS), 335 Negative pressure ventilation (NPV), 343
Life-limiting/complex chronic conditions, Neuromuscular disease
72, 73 CPAP, 291
Long-term ventilation of children interface
blood gases, 11–12 acute chest infections, 294–295
BPD, 8 cough assistance, 296
CCHS, 10 facial pressure, 293
clinical assessment, 12 mid-facial hypoplasia, 293
clinical status, 4 monitoring efficacy of, 294
cost efficiency, 5 nasal masks, 293
cystic fibrosis, 8 palliative care, 297
hypoventilation treatment, 4 titrating settings, 293–294
increased life expectancy, 3 tracheostomy ventilation, 296
invasive positive pressure ventilation, 2 nocturnal NIV, 291
NIPPV, 2, 5 paediatric ventilatory profiles, 292
obesity hypoventilation, 9 pathophysiology, 284–288
OSA, 9 PSV, 292
parental and family wishes, 6 respiratory complications, 283, 285–287
polysomnography, 12 respiratory function
primary chest wall disorders, 8 scoliosis, 289
progressive neuromotor disease, 7 sleep studies, 290–291
prolongation of life, 3 ventilatory support, 290
pulmonary function, 13 Neuromuscular disorders (NMD), 154–155
360 Index
Noninvasive positive pressure ventilation pneumococcal vaccination, 153

(NIPPV), 2, 5, 148, 319 prevention practices, 151
Non-invasive respiratory support RSV, 153
adherence tracheostomy tube placement, 151
in children and adolescents, 243–244 VAP, 152
CPAP (see Continuous positive airway nutrition
pressure (CPAP)) CPAP/bi-level-PAP therapy, 156
improvement, 249 dysfunctional swallow, 156
NIV, 249 gastrostomy tube, 156
vs. outcome, 243 obesity, 156
OSA, 241 swallowing dysfunction, 155
sleep-related respiratory failure, 243 systemic inflammation, 155
Noninvasive ventilation (NIV), 195–198, oral healthcare, 156, 157
202, 249 orthopedic problems/scoliosis
Noninvasive ventilatory support. polysomnography, 154
See Noninvasive respiratory support surgery, 154, 155
Nutrition, 323 vitamin D deficiency, 155
CPAP/bi-level-PAP therapy, 156 respiratory care
dysfunctional swallow, 156 CPAP, 148
gastrostomy tube, 156 facial development, 148
obesity, 156 nasal masks, 148
swallowing dysfunction, 155 NIPPV, 148
systemic inflammation, 155 PAP, 148
polysomnography, 150
pulmonary status, 149
O regular assessment, 150
Obesity, 156 tracheostomy, 149
Obesity hypoventilation, 22 weaning, 150
Obstructive sleep apnea syndrome (OSAS) social work and community resources, 157
adenotonsillectomy, 253 tobacco and secondhand smoke, 151
anatomical factors transition to adult care, 158
adolescents, 259
childhood, 258–259
infancy, 258 P
diagnosis and treatment, 253 Palivizumab, 153
PAP (see Positive airway pressure (PAP)) Palliative care
prevalence of, 253 challenges and advance care planning,
upper airway 77–80
functional properties, 254 challenges and end-of-life topics
neuromotor tone, 256–257 advance care plans, 83
ventilatory and chemical drive, 255 “all or nothing” paradigms, 82
ventilatory response, inspiratory documentation of medical record, 83
loading, 255 family vs. professional caregivers
Omnibus Budget Reconciliation Act, 133 decision, 83
One home ventilator, 49 good communication, 80, 81
Oseltamivir, 153 morbidity/death, 83
Outpatient care non-end-of-life care goals, 82
cardiology, 153, 154 positive goals, 83
infection reminding serious diagnosis, 82
acute bacterial tracheobronchitis, 152 timing for end-of-life discussions, 81, 82
acute lower respiratory infections, 152 treatment abandonment, 81
bacterial tracheobronchitis/ chronic respiratory failure, 74
pneumonia, 152 families
influenza vaccination, 153 advance care planning, 75
Index 361
anticipatory guidance, 75, 76 tracheotomy, 275

CPR, 75, 76 upper airway surgeries, 275
DNR, 76 Positive end-expiratory pressure (PEEP), 42
end-of-life advance care Positive pressure ventilation (PPV), 318,
planning, 75 340–341
end-of-life preparation, 77 Prader-Willi syndrome (PWS), 270
POLST, 76 Pressure support ventilation (PSV), 43–44,
signed written care plan, 77 48, 292
tracheal intubation, 77 Pressurized metered-dose inhalers (pMDI), 220
vs. life-prolonging care, 74 Primary care physician (PCP), 137
professional caregivers, 74 Primary care provider (PCP), 101
Parenchymal disease, 301 Pulmonary care/pulmonologist
Patient-centered medical home (PCMH). co-management with primary care
See Medical home physicians and family, 139–141
Pcrit method, 256 families support, 124
Physician Orders for Life-Sustaining importance, 122
Treatment (POLST), 76 recognizing family needs, 133
Pierre Robin sequence, 269
Pneumococcal vaccination, 153
Polysomnography, 12, 23, 150, 154, 305, R
323–324 Rapid onset obesity with hypothalamic
Positive airway pressure (PAP) dysfunction, hypoventilation, and
adherence, 273 autonomic dysregulation
adverse effects, 273–274 (ROHHAD), 335
auto PAP, 263 Respiratory muscle training, 322
BLPAP, 263 Respiratory syncytial virus (RSV), 153
CNS function (see CNS function) Restrictive lung disease, 325
CPAP therapy, 263 Rooming-in, 106
efficacy of, 260, 272–273
future aspects, 276
indications for S
craniofacial malformations and genetic Scoliosis, 154–155, 325
disorders (see Craniofacial Sleep-disordered breathing (SDB), 271, 284
malformations and genetic Small airway disease, 302
disorders) Spinal cord injury, 313–314
laryngomalacia, 267–268 State Title V agencies, 134
nonobese children, 265 Swallowing dysfunction, 155
obesity, 265 Synchronized intermittent mandatory
mechanical effect, 260–261 ventilation (SIMV), 45
monitoring respiratory and sleep Systemic inflammation, 155
parameters, 264
obesity, 265
patient tolerance and therapy T
compliance, 263 Thoracic injuries, 314
sleep-disordered breathing, 261 Title V Block Grants, 133
titration study, 262 Tobacco, 151
titration therapy, 264 “Trach Go Bag”, 110
vs. tracheotomy, 264 TransforMED, 126
treatments for Trauma
EPAP, 275 bronchodilators/beta adrenergic agonists,
medications, 274 321–322
nasal Insufflation, 274 chronic respiratory failure, 314, 315
oral appliances, 275 chronic ventilatory support, 318
rapid maxillary expansion, 275 dysphagia evaluation, 323
362 Index
Trauma (cont.) financial considerations, 167

increase ventilatory muscle power, 317, 322 high-risk intervention, 165
to improve central respiratory drive, 317–318 home nursing care, 167
monitoring legal issues, 178–179
echocardiogram, 324 mechanical ventilator malfunction, 186
polysomnography, 323–324 medical stability, 166
scoliosis and restrictive lung disease, 325 monitoring
sleep issues and sleep-related breathing devices, 169–171
disorders, 324 family caregivers, 172
nutrition, 323 human factor, 171
to reduce respiratory load, 315 non-professional caregivers, 172
respiratory muscle training, 322 nursing profession, 171
spinal cord injury, 313–314 normalcy, 175–177
TBI, 312 outcomes, 180–181
thoracic injuries, 314 preparation of caregivers
ventilation, mode of family, 168
DP, 319–321 homecare nurses, 168–169
NPPV, 319 nursing agency, 169
PPV, 318 prevalence, 165
Traumatic brain injury (TBI), 312 preventing accidental deaths, 173–174
psychosocial aspects, 174–175
psychosocial considerations, 167
V respiratory needs, 167
Vascular disease, 301 traveling outside, 177
Ventilator and tracheostomized patients Ventilator weaning techniques, 316
metered-dose inhaler, 228 Ventilatory muscle function, 316
nebulizers, 228–231 Vibrating mesh nebulizers, 219
Ventilator-Assisted Children’s Home Videofluoroscopic swallow, 156
Programme (VACHP), 166
Ventilator-associated pneumonia (VAP), 152
Ventilator-dependent patients, home W
environmental safety, 167 Wagner’s Chronic Care Model, 128
family caregiver training, 167 Weaning, 150

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Respiratory Medicine

Series Editor: Sharon I.S. Rounds

Caring for the

More information about this series at http://www.springer.com/series/7665

Caring for the Ventilator

ISSN 2197-7372 ISSN 2197-7380 (electronic)

Library of Congress Control Number: 2016943202

© Springer Science+Business Media New York 2016

Printed on acid-free paper

This Humana Press imprint is published by Springer Nature

1 Chronic Ventilator Support in Children: Why, Who, and When ....... 1

11 Inhaled Drug Delivery for Children on Long-term

Index ................................................................................................................. 355

Raanan Arens, MD Division of Pediatric Respiratory and Sleep Medicine, The

Sheila Kun, RN, MS Division of Pediatric Pulmonology and Sleep Medicine,

© Springer Science+Business Media New York 2016 1

(b) Progressive loss of lung volume. In patients with progressive neuromotor

Once the rationale for chronic ventilation is accepted, consideration of which

1. Progressive neuromotor disease (Chap. 14). These disorders are characterized by

• Restrictive defects, such as asphyxiating thoracic dystrophy (Jeune’s syn-

b. Secondary to trauma to the respiratory nuclei (Chiari malformation, brain-

Although the need for long-term ventilation can arise as a consequence of a

expensive) and, in many centers, of limited availability. Moreover, given the

13. Yasuma F, Sakai M, Matsuoka Y. Effects of noninvasive ventilation on survival in patients

Ventilatory control is a precisely tuned physiologic process that maintains systemic

B. McGinley, M.D. (*)

© Springer Science+Business Media New York 2016 19

Oropharyngeal and Diaphragmatic, Peripheral/central

Fig. 2.1 Ventilatory control

Table 2.1 Factors and diseases that may result in hypercapnia

Children with Normal Lung and Respiratory Pump Function

Prader-Willi syndrome, and CNS disorders such as a Chiari malformation.

Children with Lung Disease and/or Respiratory Pump

Evaluation of Ventilation and CO2 Homeostasis

Fig. 2.2 Obstructive sleep apnea on polysomnography

Fig. 2.3 Central hypoventilation on polysomnography

Noninvasive Treatment of Hypoventilation

Noninvasive positive pressure ventilation is the delivery of air from a compressor to

Continuous Positive Airway Pressure

The most common indication for noninvasive positive pressure ventilation in

Because patient comfort is correlated with adherence with noninvasive positive

Bi-level Positive Airway Pressure

For patients who hypoventilate without evidence of upper airway obstruction or

[35]. Once noninvasive positive pressure ventilation is established during sleep,

High-Flow Nasal Therapy

Noninvasive Positive Pressure Ventilation During Wakefulness

Hypoventilation can develop acutely during wakefulness in patients with neuro-

hypoventilation with nocturnal noninvasive positive pressure ventilation treatment

Introducing Noninvasive Positive Pressure Ventilation

Initiation of noninvasive positive pressure ventilation should be considered in

noninvasive positive pressure ventilation, psychologists trained in cognitive

Benefits of Noninvasive Positive Pressure Ventilation

In children with neuromuscular disorders, such as Duchenne muscular dystrophy,

Complications of Noninvasive Ventilation

The most common complication of noninvasive positive pressure ventilation is

demonstrating appropriate amount of pressure required to create an effective seal.

1. Guyenet PG. Regulation of breathing and autonomic outﬂows by chemoreceptors. Compr

Chronic mechanical ventilation via tracheostomy is commonly employed in chil-

H.B. Panitch, M.D. (*)

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