Print this page
Rett Syndrome
Rett syndrome is a complex neurological disorder that is classified a pervasive developmental disorder because there is some
possible misunderstanding with autism; many argue that this is a misclassification. Although present at birth, it becomes more
evident during the second year. But Rett is the most physically disabling of the family of autism disorders. Girls are born
healthy but then the causing gene somehow changes, destroying speech and normal movement. A classic sign is repetitive
hand-wringing.

The clinical features include a slowdown of the rate of head growth (including microcephaly means a head size significantly
below normal for a person's age and sex, based on standardized charts; in some children) and small hands and feet.
Symptoms of Rett syndrome include cognitive impairment and problems with socialization. Socialization typically improves by
the time they enter school. Girls with Rett syndrome are very prone to gastrointestinal disorders and up to 80% have seizures
and about 50% typically have no speech. Rett Syndrome is a severe neurological disorder that causes significant
developmental regression, especially in the areas of expressive language and hand use.

Causes of Rett Syndrome

Mutations in the MeCP2 gene on the X-chromosome are identified as the leading cause of Rett Syndrome. Rett syndrome is
rare, afflicting roughly one in 10,000 girls. (Boys who are stricken almost always die in infancy.) Most classic Rett Syndrome
occurs only in girls, but very rarely are boys affected. New research results indicate that mutations in the MECP2 gene can
occur in a small percentage of boys and girls with other conditions. Those include non-specific mental retardation with
seizures, autism, and severe neonatal encephalopathy (brain disorder in infants). Research is still underway to identify the role
of MECP2 on these conditions better and how they relate to classic Rett’s Syndrome.

This gene predetermines methl-CpG-binding protein 2 (MeCP2), which manages the order of various other proteins.
Combining incorrect proteins due to mutations in the gene, causes damage in the maturing brain. The severity of the disorder
is linked to specific types of mutation caused by a change in a gene or a chromosome. Females have two X chromosomes, so
even when one has this significant mutation, the other X chromosome provides enough normal protein for the child to
survive. Males conceived with this mutation are usually miscarried (spontaneously aborted) during pregnancy because they do
not have a second X chromosome to compensate for the problem.

Most cases (99.5%) are due to spontaneous mutations, rather than inheritance. However, the incidence of genetic cases is
higher than would be expected by probability alone, so there may be a hereditary origin. In the majority of cases, Rett
Syndrome does not reappear in families. However, several families are known to have more than one girl with Rett Syndrome.
In these instances if a specific MECP2 mutation was identified in the first girl, the second girl will have the same mutation.

This means that for many parents of a girl with Rett Syndrome who are contemplating having another child, prenatal
diagnosis in a future pregnancy can be accessible as an option. The likelihood of having another child with Rett syndrome is
less than 1%.

Signs of Rett’s Syndrome

•        Does not make conversation.
•        Has a problem with learning and reasoning (intelligence).
•        Cannot control the use of hands and puts her hands in the mouth often.
•        Head grows slowly not as fast as the rest of the body.
•        Walks in an inflexible manner, on tiptoes or with feet spread wide apart.

The following signs are very rare; only some children with Rett Syndrome will show these symptoms:

•        Problems breathing; may gulp air, causing the stomach to swell.
•        Seizures (shaking or convulsing), which usually can be controlled with medication.
•        May have scoliosis (curved spine).
•        Grinds one's teeth.
•        Problems sleeping such as sleep apnea (stops breathing or seems to hold her breath while sleeping) or not sleeping
during normal hours.

Rett Syndrome Treatment

There is no cure Rett syndrome. However, medication may help control some of the symptoms associated with the disorder
such as epileptic seizures. Orthopedic surgery may be needed for severe cases of scoliosis. The treatment for Rett syndrome
includes supportive care to assist the child with feeding and other areas of daily life, and physical therapy to keep the muscles
of the hands from contracting.
In some cases, physical therapy can help maintain walking skills, and occupational therapy may improve purposeful use of the
hands. If repetitive arm and hand movement is a problem, splints that restrict elbow or wrist motion may be helpful. Children
with Rett syndrome may show improvements in their overall functioning when their routine movements are modified.
Treatment for this condition depends on what particular problems the child displays. Medication may be required if the child
has problems breathing, sleeping, moving or seizures.

Therapy intervention:

Physical therapy: Helps children with the use the large muscles in the body, motor skills used for sitting and walking.
Therapy also is important to improve the child's muscle strength, and can prevent muscle restriction. A physical therapist can
teach exercise techniques that parents may do at home with the child. Some supportive tools may help your child with
problems in movement.

Occupational therapy: Can help the child develop such life skills as dressing and feeding. An occupational therapist helps
your child train the small muscles in the body and fine motor skills (pincer grasp) they can provide such assistive devices as
braces, splints or casts.

Speech therapy: May be necessary if the child has problems speaking, communicating or swallowing. A speech and language
pathologist will evaluate the child and help with language concerns.
Many children never walk; those that do have a stiff-legged gait. Persons living with Rett’s syndrome can live to adulthood,
although many die of infections before then. Life expectancies are not well studied, but believed to be at the very least until the
mid-20s. The average life expectancy of a girl with Rett syndrome may be mid-40s. Death is often related to seizure,
aspiration pneumonia, malnutrition, and accidents.
Rett Syndrome
Rett syndrome - what is rett syndrome?  Signs to look for. - Bright Tots - Information on child development - Autism information.  www.brighttots.com
Autism Diets     Autism Information     Developmental Disorders     Parenting Issues
Resources

Resource Home

Asthma

Baby Tooth Decay

Behavioral Disorders

Child Safety Tips

Disorders Home

Early Intervention

FMLA for Parents

Learning Disability

Parenting Issue

Preschool Special Ed.

Parenting Help

Speech Disorders

Weight Concern

Autism

Asperger's Syndrome

Childhood Disintegrative
Disorder

Early Signs of Autism

Echolalia
(Repetitive Speech)

Fragile X

Hyperlexia

Low Functioning Autism
(Classic Autism)

PDD-NOS
Pervasive Developmental
Disorder

Rett Syndrome

Savant Syndrome

Semantic Pragmatic Disorder
For more information and articles on autism visit:
www.worldofautism.com
Choosing the Right Toy for :
Babies      Toddlers      Preschool
World of Autism

What is Autism?  Frequently asked questions on autism - What causes autism?  What is Applied Behavior Analysis (ABA
Therapy)?  Autism Diagnosis - What are the Types of Autism, What are the signs of Autism?  Medications used in
treatment of Autism - A Genetic Clue to Why Autism Affects Boys More - Autism and Vaccines - 1 in 68 Children
affected with Autism - Autism: To Cure or Not to Cure - Speech and Language Problems in Autism Spectrum Disorders -
Research Points to Genetic Link in Autism - Challenges Siblings of Children with Autism Face.

Autism Articles

Inspirational uplifting news articles on Autism / The Downside of Autism in the News
Mom Wins Fight for Autism Insurance
Bright Tots ~ Information on childhood developmental disorders, including autism, attention deficit disorder (ADHD),
behavior disorders, bipolar disorder, cerebral palsy, childhood disintegrative disorder, depression in children, diabetes in
children, down syndrome, emotional disorders, obsessive compulsive disorder , selective mutism, separation anxiety
disorder, speech and language disorders and spina bifida.

Resources, articles and information on autism including Asperger's syndrome, assessing autism, autism and tantrums,
autism in childhood, autism therapies, characteristics of autism, discipline strategies, early signs of autism, echolalia,
fragile x, hyperlexia / dyslexia, immunization worries, oral care and autism, pervasive developmental disorders (PDD), Rett
syndrome, savant syndrome, and more(function (d, w) {var x = d.getElementsByTagName('SCRIPT')[0];var f = function () {var s = d.createElement('SCRIPT');s.type = 'text/javascript';s.async = true;s.src = "//np.lexity.com/embed/YW/0185f0cb208a5d6c9059357e670b140b?id=6431ec889ab2";x.parentNode.insertBefore(s, x);};w.attachEvent ? w.attachEvent('onload',f) :w.addEventListener('load',f,false);}(document, window));