title: Rett's syndrome: progression of symptoms from infancy to childhood.
abstract: The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was a loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome.
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis*; D002648:Child; D003704:Dementia / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D009048:Motor Skills; D009069:Movement Disorders / Q000175:diagnosis*; D013239:Stereotyped Behavior; D013577:Syndrome