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.
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