Rett syndrome: clinical and epidemiological aspects in a Brazilian institution
Arq. neuropsiquiatr
;
61(4): 909-915, Dec. 2003. tab
Artículo
en Inglés
| LILACS
| ID: lil-352424
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 percent) 17 (70.8 percent) had classical RS; 5 (20.8 percent), atypical RS and 2 (8.4 percent), 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:
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Daño Encefálico Crónico
/
Síndrome de Rett
Tipo de estudio:
Estudio observacional
/
Estudio de prevalencia
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Arq. neuropsiquiatr
Asunto de la revista:
Neurología
/
Psiquiatria
Año:
2003
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Santa Casa Medical School/BR
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