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- Title
Rett Syndrome: Model of Neurodevelopmental Disorders.
- Authors
Percy, Alan K.; Lane, Jane B.
- Abstract
Rett syndrome is a neuro developmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MEGP2. However, mutations in MEGP2 also have been identified in normal carrier female individuals, female individuals with mild learning disabilities and features of Angelman syndrome, and male individuals with Klinefelter syndrome or Rett syndrome–like features, fatal neonatal encephalopathy, and familial X-linked mental retardation with or without motor abnormalities. Therefore, molecular testing should be considered for a wide spectrum of individuals. As such, Rett syndrome remains a clinical diagnosis. In this article, we also discuss three recent developments: (1) the recognition of significant gallbladder dysfunction, especially in those 20 years of age or younger; (2) a clinical trial of folate and betaine, which produced no objective improvement but did yield a subjective increase in attention and interaction; and (3) measurement of cerebrospinal fluid folate levels in a large cohort, which yielded normal values, indicating no need for supplementation.
- Subjects
RETT syndrome; INTELLECTUAL disabilities; DISEASES in girls; DIAGNOSIS; PEOPLE with intellectual disabilities; COGNITION disorders; LEARNING disabilities
- Publication
Journal of Child Neurology, 2005, Vol 20, Issue 9, p718
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/08830738050200090301