Rett syndrome: clinical profile and EEG abnormalities.

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.