title: Rett syndrome: clinical profile and EEG abnormalities.
abstract: We studied 7 children with Rett Syndrome, characterized by behavioral and motor abnormalities which superficially resemble infantile autism, and reviewed the records of 4 adults with the same symptoms. Clinical details are discussed. No abnormalities were found in analyses of amino acids and biogenic amine metabolites. EEG showed a clear pattern of chronological deterioration, with the pattern of marked waking/sleep background contrast appearing consistently only after 5 years of age. There was also a high incidence of spike discharges in the central (Rolandic) region. The clinical pattern of Rett Syndrome should be differentiated from the syndrome of autism.
authors.affiliation: Department of Pediatrics, University of British Columbia, Children's Hospital, Canada.
authors.forename: H H
authors.initials: HH
authors.lastname: Ho
authors.forename: P K
authors.initials: PK
authors.lastname: Wong
authors.forename: R
authors.initials: R
authors.lastname: Robertson
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D001523:Mental Disorders / Q000503:physiopathology* / Q000523:psychology; D009422:Nervous System Diseases / Q000503:physiopathology* / Q000523:psychology; D013577:Syndrome