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Rett syndrome: natural history and management
J B Moeschler1, C E Charman, S Z Berg
1Department of Maternal and Child Health, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire 03755.
Abstract:
The clinical findings of seven girls and one woman, 2 to 25 years of age, with Rett syndrome are presented. Previous diagnoses included Prader-Willi syndrome, Angleman syndrome, toxic reaction to pertussis vaccine, CNS dysgenesis, and encephalitis. Rett syndrome has a recognizable neurodevelopmental phenotype without a specific biologic marker, which makes the diagnosis difficult at times. Treatment is largely supportive, and an active parents' association has been helpful to many families.
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