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Rett Syndrome | 10:39 PM |
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rett syndrome
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Rett syndrome (also called Retts disorder) is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. It was first described by Austrian neurologist Andreas Rett in 1966. The clinical features include a deceleration of the rate of head growth (including microcephaly in some) and small hands and feet. Stereotypic, repetitive hand movements such as mouthing or wringing are also noted. Symptoms of the disorder include cognitive impairment and problems with socialization, the latter during the regression period. Socialization typically improves by the time they enter school. Girls with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic. Many argue that it is misclassified as a pervasive developmental disorder, just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. The symptoms of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
- screaming fits
- panic attack
- inconsolable crying
- avoidance of eye contact
- lack of social/emotional reciprocity
- general lack of interest
- markedly impaired use of nonverbal behaviors to regulate social interaction
- loss of speech
- Balance and coordination problems, including losing the ability to walk in many cases
Symptoms of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy; this confusion should rarely be made):
- possible short stature, and/or might be unusually proportioned because of difficulty walking or malnutrition due to difficulty swallowing.
- hypotonia
- delayed or absent ability to walk
- gait/movement difficulties
- ataxia
- microcephaly in some - abnormally small head, poor head growth
- some forms of spasticity
- chorea - spasmodic movements of hand or facial muscles
- dystonia
- bruxism - grinding of teeth
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