| Rett syndrome - what is rett syndrome? Signs to look for. Bright Tots - information on early childhood development |
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| 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.
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 |
| ________________________________________________________________________________________________________________________ Copyright © 2004 Bright Tots® Inc. - Educational Toys & Resource Guide to Child Development - All rights reserved. ________________________________________________________________________________________________________________________ |
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