PEDIATRICS Vol. 82 No. 1 July 1988, pp. 1-10
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Rett Syndrome: Natural History and Management

John B. Moeschler MD1, Catherine E. Charman RN, BS1, Susan Z. Berg MD1, and John M. Graham Jr MD, ScD1

1 From the Clinical Genetics and Child Development Center, Department of Maternal and Child Health, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire

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.

Key Words: Rett syndrome • developmental disorder

Submitted on June 17, 1987




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