title: Rett syndrome: clinical presentation and laboratory investigations in 12 further French patients.
abstract: 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.
mesh_terms: 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