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Rett syndrome

Rett syndrome is a profound neurological disorder that almost exclusively affects girls. The underlying cause is spontaneous mutation of the X-linked MECP2 gene.

Features

Rett syndrome affects approximately one in 10,000 births and was first recognized by Austrian physician Andreas Rett in 1966. Symptom onset is delayed, as toddlers may have learned to speak and walk before a regression that usually sees permanent loss of these skills and of purposeful hand use. Breathing problems, a need for feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common. Life expectancy is variable, but increasingly extends beyond 50 years of age.

Relevance to autism

Rett syndrome is frequently classified within the autism spectrum due to its delayed onset and the occurrence of repetitive movements, impaired motor coordination and social withdrawal. Variable presentation of these clinical features and the identification of its precise genetic cause have led some to suggest its removal from the bulk classification of autism, although this remains controversial.


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