Clinical characteristics of Rett Syndrome
Keywords:
Rett syndrome; regression; mutation; stereotypesAbstract
Background: Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females.Aim: To describe features and molecular specificities of Rett syndrome.
Methods: To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes.
Results: This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatement is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.
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References
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