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Revista Ciencias de la Salud

versão impressa ISSN 1692-7273versão On-line ISSN 2145-4507

Resumo

CELIS, Luis Gustavo et al. Preliminary study of mental retardation in Rovira (Tolima, Colombia). Rev. Cienc. Salud [online]. 2008, vol.6, n.2, pp.39-50. ISSN 1692-7273.

Mental retardation is characterized by limitations in performance, significant deficiency in intelligence and adaptative behavior, causing clinical and social disability. Most patients with mental retardation in Colombia do not receive clinical genetics evaluation. The aims of the present study are to evaluate and characterize a group of patients with mental retardation from the population of Rovira. The present study included twenty five patients with mental retardation from Rovira (Tolima) which were studied by clinical examination, metabolic screening (ferric chloride, nitrosonaphtol, silver nitroprusiate, dinitrophenylhydrazine and benedict) and cytogenetics (G-Banding kariotype). Pesticide detection was perfomed by random sampling of water and tomatoes in twenty different places of water distribution, the center of the town and crop fields. A family with three affected sibs (two females, one male) with mental retardation was identified, suggesting a genetic component. Metabolic screening was negative and karyotypes were normal. The analyses performed for organophosphates were positive in 100% of the samples. Carbamates were positive in 60% of the water source and 100% of tomato samples. All the samples tested were negative for organochlorides. Further studies as molecular fragile-X test, will be performed.

Palavras-chave : mental retardation; cytogenetics; disability; metabolic screening; Rovira; pesticides.

        · resumo em Espanhol     · texto em Espanhol

 

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