Revista medica de Chile · 2009
[Genetic screening to determine an etiologic diagnosis in children with mental retardation].
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Alliende M Angélica, Cámpora Laura, Curotto Bianca, Toro Jessica, Valiente Alf, Castillo Marcela, Cortés Fanny, Trigo César, Alvarado Cecilia, Silva Manuel, Caru Margarita
Аннотация
BACKGROUND: 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 screening should be done always in children with intellectual disability to establish an etiological diagnosis.
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 screening should be done always in children with intellectual disability to establish an etiological diagnosis.