OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome
(RS).
II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of
cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine,
while continuing supportive care to modify seizures, respiratory abnormalities, and motor
disturbances, and improve nutrition, behavior, and learning.
IV. Identify targets for future therapeutic interventions, e.g., growth factors, to influence
neurologic recovery.
Phase:
N/A
Details
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)