title: [Rett syndrome: retrospective and prospective study of 28 patients].
abstract: From November 1982 to May 1999, 28 children with Rett syndrome were followed-up for a medium period of 6 years and 2 months. Regression of developmental milestones started at the age between 5 and 20 months. Nineteen cases of typical Rett syndrome had uneventful pre and perinatal periods, loss of previously acquired purposeful hand skills, mental and motor regression and developed hand stereotypies; sixteen had head growth deceleration and 12 gait apraxia. Nine patients were atypical cases, 2 formes frustres, 2 congenital, 3 with early seizure onset, 1 preserved speech and 1 male. Epilepsy was present in 21 patients, predominantly partial seizures and the drug of choice was carbamazepine (15 patients). In the initial evaluation most patients were distributed on Stages II and III and on follow-up on Stages III and IV. Three children died.
authors.affiliation: Centro de Neurologia Pediatrica, Deparmento de Pediatria, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil.
authors.forename: I
authors.initials: I
authors.lastname: Bruck
authors.forename: S A
authors.initials: SA
authors.lastname: Antoniuk
authors.forename: S M
authors.initials: SM
authors.lastname: Halick
authors.forename: A
authors.initials: A
authors.lastname: Spessatto
authors.forename: L R
authors.initials: LR
authors.lastname: Bruyn
authors.forename: M
authors.initials: M
authors.lastname: Rodrigues
authors.forename: J
authors.initials: J
authors.lastname: Koneski
authors.forename: D
authors.initials: D
authors.lastname: Facchim
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002220:Carbamazepine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000145:classification / Q000175:diagnosis* / Q000503:physiopathology
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine