Rett syndrome is a neurodevelopmental disorder that is classified as an autism spectrum disorder by the DSM-IV. It was first described by Austrian pediatrician Andreas Rett in 1966. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some).
Repetitive hand movements such as mouthing or wringing are also noted. 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.
Some argue that it is misclassified as an autism spectrum 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 signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
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Last Updated: Feb 1, 2011