Rett syndrome: clinical and epidemiological aspects in a Brazilian institution
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...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2003-12-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600004&tlng=en |
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| _version_ | 1849406965335195648 |
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| author | Cristina M. Pozzi Sergio Rosemberg |
| author_facet | Cristina M. Pozzi Sergio Rosemberg |
| author_sort | Cristina M. Pozzi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-46913cd0496b4baa8632650e9869e4d4 |
| institution | Kabale University |
| issn | 1678-4227 |
| language | English |
| publishDate | 2003-12-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-46913cd0496b4baa8632650e9869e4d42025-08-20T03:36:13ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272003-12-0161490991510.1590/S0004-282X2003000600004Rett syndrome: clinical and epidemiological aspects in a Brazilian institutionCristina M. Pozzi0Sergio Rosemberg1Santa Casa Medical SchoolSanta Casa Medical SchoolRett 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600004&tlng=enRett syndromechronic encephalopathydifferential diagnosis |
| spellingShingle | Cristina M. Pozzi Sergio Rosemberg Rett syndrome: clinical and epidemiological aspects in a Brazilian institution Arquivos de Neuro-Psiquiatria Rett syndrome chronic encephalopathy differential diagnosis |
| title | Rett syndrome: clinical and epidemiological aspects in a Brazilian institution |
| title_full | Rett syndrome: clinical and epidemiological aspects in a Brazilian institution |
| title_fullStr | Rett syndrome: clinical and epidemiological aspects in a Brazilian institution |
| title_full_unstemmed | Rett syndrome: clinical and epidemiological aspects in a Brazilian institution |
| title_short | Rett syndrome: clinical and epidemiological aspects in a Brazilian institution |
| title_sort | rett syndrome clinical and epidemiological aspects in a brazilian institution |
| topic | Rett syndrome chronic encephalopathy differential diagnosis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600004&tlng=en |
| work_keys_str_mv | AT cristinampozzi rettsyndromeclinicalandepidemiologicalaspectsinabrazilianinstitution AT sergiorosemberg rettsyndromeclinicalandepidemiologicalaspectsinabrazilianinstitution |