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Abstract

Rett syndrome was first described in 1966 by Andreas Rett. To date, this syndrome has been reported only to afflict females. The disorder is characterized by a progressive loss of cognitive and motor skills as well as the development of stereotypic hand movements, occurring after an apparently normal 6 to 18 months of development. Although Rett syndrome is thought to afflict as many as 10,000 girls in the United States, fewer than 1,200 have been identified thus far. A lack of awareness of this disorder is thought to play a critical role in the failure to differentially diagnose this syndrome. The present article presents a review of our current knowledge concerning this disorder. Information is provided related to the clinical manifestations, etiology, prevalence, pathogenesis, and treatment of the Rett syndrome.

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