title: Rett syndrome in Thai female girls: clinical studies.
abstract: Rett syndrome consists of a highly complex but consistent set of clinical signs and symptoms. Clinical characteristics consist of microcephaly, delayed psychomotor development, autistic behavior, stereotyped hand-washing, and seizures. Over a period of 14 years (1987-2000), 7 patients with Rett syndrome were evaluated at the Out Patient Unit, King Chulalongkorn Memorial Hospital, Bangkok, Thailand. All seven patients were females aging 1 1/2 to 5 years old when diagnosis was established. All were appearently normal at birth and had developmental regression after a period of time. All of them developed microcephaly, autistic features, seizures, and stereotyped hand-washing-movement. Five of seven patients (71.42%) developed episodic hyperventilation. All cases had abnormal electroencephalogram. Computer tomography scan were examined in 3 cases which were normal while magnetic resonance imaging were studied in 2 cases and was abnormal in one.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: S
authors.initials: S
authors.lastname: Phancharoen
mesh_terms: D002675:Child, Preschool; D018450:Disease Progression; D004569:Electroencephalography; D005260:Female; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D011379:Prognosis; D015518:Rett Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D013785:Thailand / Q000453:epidemiology