Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
Date
2008
Type:
Artículo
item.page.extent
item.page.accessRights
Authors
Alliende, María Angélica
Campora, Laura
Curotto, Bianca
Toro, Jessica
Valiente, Alf
Castillo, Marcela
Cortés, Fanny
Trigo, César
Alvarado, Cecilia
Silva, Manuel
item.contributor.advisor
ORCID:
Journal Title
Journal ISSN
Volume Title
Publisher
Sociedad Médica de Santiago
item.page.isbn
item.page.issn
item.page.issne
item.page.doiurl
item.page.other
item.page.references
Abstract
Background: Mental retardation or intellectual disability affects 2% ofthe general population, but in 60% to 70% of cases the real cause ofthis retardation is not known. An early etiologic diagnosis of intellectual disability can lead to opportunities for improved educational interventions, reinforcing weak areas and providing a genetic counseling to the family Aim: To search genetic diseases underíying intellectual disabilities of children attending a special education school. Material and methods: A clinical geneticist performed the history and physical examination in one hundred and three students aged between 5 and 24 years (51 males). A blood sample was obtained in 92 of them for a genetic screening that included a standard karyotype, fragile X molecular genetic testing and search for inborn errors of metabolism by tándem mass spectrometry. Results: This approach yielded an etiological diagnosis in as much as 29 patients. Three percent of them had a fragile X syndrome. Inborn errors of metabolism were not detected. Conclusions: This type of screening should be done always in children with intellectual disability to establish an etiological diagnosis.
Description
Centro de Genética y Genómica
item.page.coverage.spatial
item.page.sponsorship
Citation
Revista Médica de Chile, Diciembre 2008, vol. 136, n° 12, p. 1542-1551
Keywords
Fragile X syndrome, Genetic screening, Mental retardation