Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
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M Angélica Alliende [1] ; Laura Cámpora [2] ; Bianca Curotto [1] ; Jessica Toro [1] ; Alf Valiente [1] ; Marcela Castillo [1] ; Fanny Cortés [1] ; César Trigo [3] ; Cecilia Alvarado [1] ; Manuel Silva [1] ; Margarita Caru [1]
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[1] Universidad de Chile
Universidad de Chile
Santiago, Chile
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[2] Universidad del Desarrollo
Universidad del Desarrollo
Santiago, Chile
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[3] Escuela Especial Nuestro Mundo
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- Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 136, Nº. 12, 2008, págs. 1542-1551
- Idioma: español
- Títulos paralelos:
- Genetic screening to determine an etiologic diagnosis in children with mental retardation
- Enlaces
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Resumen
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 aáreas 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.
