title: Rett syndrome: clinical and epidemiological aspects in a Brazilian institution.
abstract: Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend--learning, hand use and speech--leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7%): 17 (70.8%) had classical RS; 5 (20.8%), atypical RS and 2 (8.4%), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding.
authors.affiliation: Neurology Division Department of Paediatrics, Santa Casa Medical School, Sao Paulo, SP, Brazil. cristinapozzi@ig.com.br
authors.forename: Cristina M
authors.initials: CM
authors.lastname: Pozzi
authors.forename: Sergio
authors.initials: S
authors.lastname: Rosemberg
mesh_terms: D000293:Adolescent; D017677:Age Distribution; D017668:Age of Onset; D001925:Brain Damage, Chronic / Q000503:physiopathology*; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D018899:CpG Islands / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D015518:Rett Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins