Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial / Genetic screening to determine an etiologic diagnosis in children with mental retardation
Rev. méd. Chile
; 136(12): 1542-1551, dic. 2008. ilus, tab, graf
Article
en Es
| LILACS
| ID: lil-508907
Biblioteca responsable:
BR1.1
ABSTRACT
Background:
Mental retardation or intellectual disability affects 2 percent ofthe general population, but in 60 percent to 70 percent 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 familyAim:
To search genetic diseases underíying intellectual disabilities of children attending a special education school. Material andmethods:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Pruebas Genéticas
/
Análisis Citogenético
/
Discapacidad Intelectual
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
Es
Revista:
Rev. méd. Chile
Asunto de la revista:
MEDICINA
Año:
2008
Tipo del documento:
Article
/
Project document
País de afiliación:
Chile
Pais de publicación:
Chile