Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
2008
Alliende Rodríguez, María Angélica | Cámpora, Laura | Curotto, Bianca | Toro, Jessica | Valiente, Alf | Castillo, Marcela | Cortés, Fanny | Trigo, César | Alvarado, Cecilia | Silva, Manuel | Carú Marambio, Margarita
Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this 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 underlying 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 tandem 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 screenin
显示更多 [+] 显示较少 [-]Trabajo financiado por proyecto DI-U. de Chile: MULT 04/32-2.
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