Rett Syndrome

Surprising contributor to Rett syndrome identified

The immune system is designed to protect us from disease. But what if it was malfunctioning? Would it make a disease worse? That appears to be the case with Rett syndrome, a neurodevelopmental disorder, and possibly in other ...

Apr 21, 2015
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Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. 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 wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of individuals affected are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.

The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.

Some argue[citation needed] 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. However, it has been suggested that it be removed from the DSM-5, because it has a specific etiology.

It was first described by Austrian pediatrician Andreas Rett in 1966.

In DSM-IV-TR page 76, Rett's Disorder 299.80 is listed under the broad category of Pervasive Developmental Disorders.

This text uses material from Wikipedia licensed under CC BY-SA

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