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| Rett Syndrome |
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| ________________________________________________________________________________________________________________________ Copyright © 2004 Bright Tots® Inc. - Educational Toys & Resource Guide to Child Development - All rights reserved. ________________________________________________________________________________________________________________________ |
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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 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
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.
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.
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.
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.
| Rett Syndrome |