Rett syndrome: clinical presentation and laboratory investigations in 12 further French patients.
Twelve French patients with the Rett syndrome collected since July 1982 are reported. They confirm the stereotyped clinical presentation of the syndrome which represented 22% of the whole progressive encephalopathies referred to our hospital in the same period and 55% of the progressive encephalopathies of unknown etiology. Metabolic investigations have been constantly negative.
D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003704:Dementia / Q000175:diagnosis; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008831:Microcephaly / Q000175:diagnosis; D019965:Neurocognitive Disorders / Q000175:diagnosis*; D013239:Stereotyped Behavior; D013577:Syndrome