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    Retts Syndrome

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    Rett Syndrome is a rare genetic neurological disorder caused by mutations in the MECP2 gene located on the X chromosome. It primarily affects girls and causes normal early development to regress between 6-18 months, with loss of purposeful hand use and motor skills and development of autistic-like behaviors. While there is no cure, treatment aims to improve mobility, communication, and management of symptoms like seizures and breathing problems through physical therapy, medication, and assistive devices. Rett Syndrome is typically diagnosed based on observation of developmental delays and genetic testing to confirm mutations in the MECP2 gene.

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    Retts Syndrome

    Uploaded by

    api-297523122
    91 views10 pages
    Rett Syndrome is a rare genetic neurological disorder caused by mutations in the MECP2 gene located on the X chromosome. It primarily affects girls and causes normal early development to regress between 6-18 months, with loss of purposeful hand use and motor skills and development of autistic-like behaviors. While there is no cure, treatment aims to improve mobility, communication, and management of symptoms like seizures and breathing problems through physical therapy, medication, and assistive devices. Rett Syndrome is typically diagnosed based on observation of developmental delays and genetic testing to confirm mutations in the MECP2 gene.

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    Rett Syndrome is a rare genetic neurological disorder caused by mutations in the MECP2 gene located on the X chromosome. It primarily affects girls and causes normal early development to regress between 6-18 months, with loss of purposeful hand use and motor skills and development of autistic-like behaviors. While there is no cure, treatment aims to improve mobility, communication, and management of symptoms like seizures and breathing problems through physical therapy, medication, and assistive devices. Rett Syndrome is typically diagnosed based on observation of developmental delays and genetic testing to confirm mutations in the MECP2 gene.

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    91 views10 pages

    Retts Syndrome

    Uploaded by

    api-297523122
    Rett Syndrome is a rare genetic neurological disorder caused by mutations in the MECP2 gene located on the X chromosome. It primarily affects girls and causes normal early development to regress between 6-18 months, with loss of purposeful hand use and motor skills and development of autistic-like behaviors. While there is no cure, treatment aims to improve mobility, communication, and management of symptoms like seizures and breathing problems through physical therapy, medication, and assistive devices. Rett Syndrome is typically diagnosed based on observation of developmental delays and genetic testing to confirm mutations in the MECP2 gene.

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    © All Rights Reserved
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    Download as pptx, pdf, or txt
    of 10

    Rett Syndrome

    By: Justina Hanna

    About Rett Syndrome


    Rett Syndrome, also known as RTS, is a rare genetic

    mutation and is a neurodevelopmenal disorder. RTS is


    caused by a mutation in MECP2 gene, which provides
    instructions to making protein. This gene is critical for
    normal brain function. Rett Syndrome is normally discovered
    and diagnosed during the first two years of the childs life.
    The child grows normally, then from 6-18 months, mental
    and physical symptoms of this syndrome appear. Children
    affected will have autistic-like behaviors and lose any
    purposeful use of their hands. Early identification and
    treatment can help the child improve movements and
    communication.

    What Causes Rett


    Syndrome?
    Rett Syndrome is a mutation in the X chromosome so its

    known as a sex linked genetic disorder. It is classified as a Xlinked dominant disorder.


    Rett Syndrome is a mutation in the MECP2 gene or rarely in
    the CDKL5 gene, which both provide protein for a healthy
    brain function.
    The mutation is not a non disjunction. MECP2 frame shift
    mutations have been found frequently to be the cause.
    Less than 1% of recorded cases have been inherited. In
    most cases the mutation occurs at random.

    Facts about Retts


    Syndrome

    Rett Syndrome is more frequent among females and rarely

    occurs with males. If a male gets this disorder they die


    shortly after birth because girls have 2 X chromosomes so
    only one is active in every cell and only a portion of the cells
    will use the defective cell while the other healthy gene can
    still produce protein. But males only have 1 X chromosome
    so they no back up copy.
    1 in 10,000 girls will get affected by this condition. Rett
    Syndrome can be found in any ethnicity and affects ages 618 months the most because thats when signs of Rett
    Syndrome really show.

    Symptoms of Rett
    Syndrome

    This disorder is not easily detected. A baby born with this

    syndrome tend to have a normal pregnancy and a delivery.


    The baby develops and grows normally for the first 6
    months. Symptoms begin occur after that. The most
    noticeable changes happen at 12 to 18 months.
    People with Retts Syndrome commonly have seizures,
    drooling, teeth grinding, and constipation.
    Symptoms & Signs of Retts Syndrome:
    abnormal hand movements- child may lose purpose of
    hands and may do movements such as clapping and
    rubbing of hands.
    slowing of head growth-the childs brain growth slows
    after birth.
    muscular issues- loss of muscle tone, muscle weakness
    and stiffness, and movements become rigid.
    Other signs of Retts syndrome are irregular heartbeat, odd facial

    expressions, and long bouts of laughter. Child may experience loss

    Testing and Screening


    To determine if a child has Rett Syndrome, the doctor should

    observe signs and symptoms during the childs early


    development. The doctor should consider Rett Syndrome
    when slowing of head growth is observed after the child is
    born. Doctors should conduct evaluations of the childs
    physical and neurological status to help diagnose the
    syndrome. After the evaluations, genetic testing/ DNA
    analysis is recommended. The test will confirm the mutation
    and examine the DNA to find out the severity and cause of
    the order.

    Treatments for Rett


    Syndrome
    Retts syndrome has no cure

    but there are ways to treat this


    condition and to help the
    person affected learn to live
    with this disorder.
    Physical therapy improves
    mobility and balance. It also
    helps reduce hand movements
    such as hand rubbing and
    clapping. Therapy teach how to
    do activities like dressing and
    eating.
    Speech therapy teaches
    communication and social
    skills.

    Treatments for Rett


    Syndrome

    Medication can be taken to

    help with breathing problems,


    control seizures, and to monitor
    and regulate the heart.
    Physical assistance/ Special
    Equipment such as braces are
    used to aid scoliosis and help
    guide the child. The equipment
    also help with hand
    movements.
    Rett Syndrome is not lifeending but affects of RTS
    such as heart and breathing
    problems could be lifethreatening.

    Other Interesting Facts


    Discovering the exact cause of Rett Syndrome

    could lead to finding a cure in the future. Even


    though the gene causing this syndrome has been
    found, the exact mechanism hasnt been found.
    The life expectancy of Rett Syndrome has not
    been researched.
    The brains of girls with Rett Syndrome tend to
    be about 30% smaller than average.
    Rett Syndrome can often be misdiagnosed as
    autism.

    Bibliography
    "Rett Syndrome Fact Sheet." Rett Syndrome Fact Sheet.

    N.p., n.d. Web. 28 Nov. 2015.


    http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
    Rett Syndrome Symptoms, Causes, and
    Treatments."WebMD. WebMD, n.d. Web. 28 Nov. 2015
    http://www.webmd.com/brain/autism/rett-syndrome
    "Rett Syndrome."- Mayo Clinic. N.p., n.d. Web. 28 Nov.
    2015
    http://www.mayoclinic.org/diseases-conditions/rett-syndrom
    e/basics/definition/con-20028086
    "Rett Syndrome: MedlinePlus Medical Encyclopedia."U.S
    National Library of Medicine. U.S. National Library of
    Medicine, n.d. Web. 28 Nov. 2015
    https://www.nlm.nih.gov/medlineplus/ency/article/001536.
    htm

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