Rett syndrome: natural history and management.
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.
Moeschler
J B
JB
Department of Maternal and Child Health, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire 03755.
Charman
C E
CE
Berg
S Z
SZ
Graham
J M
JM
D000328:Adult; D001072:Apraxias / Q000209:etiology; D001259:Ataxia / Q000209:etiology; D001321:Autistic Disorder / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D010641:Phenotype; D011596:Psychomotor Disorders / Q000209:etiology; D012640:Seizures / Q000209:etiology; D012653:Self Stimulation; D012737:Sex Factors; D013239:Stereotyped Behavior; D013577:Syndrome