ABSTRACT
A biochemical screening programme for the detection of inherited metabolic disease was carried out on urine and blood samples from inmates of the Alexandra Institute for the mentally retarded, Cape Town. Of the 1087 patients screened, positive results for phenylketonuria were obtained in 3, for cystinuria in 2 and for Hartnup disease in 1. The overall frequency of metabolic disorders was 0,6%. It is evident that genetic metabolic disease as detected by current screening procedures makes only a small contribution to the overall burden of mental retardation.
Subject(s)
Intellectual Disability/complications , Metabolism, Inborn Errors/metabolism , Adult , Cystinuria/complications , Cystinuria/epidemiology , Cystinuria/metabolism , Female , Hartnup Disease/complications , Hartnup Disease/epidemiology , Hartnup Disease/metabolism , Humans , Intellectual Disability/epidemiology , Male , Mass Screening , Metabolism, Inborn Errors/complications , Middle Aged , Mucopolysaccharidoses/complications , Mucopolysaccharidoses/epidemiology , Mucopolysaccharidoses/metabolism , Phenylketonurias/complications , Phenylketonurias/epidemiology , Phenylketonurias/metabolism , South AfricaSubject(s)
Down Syndrome , Maternal Age , Adult , Down Syndrome/epidemiology , Female , Humans , Infant, NewbornABSTRACT
The performance of Black hospital employees in the copying of designs, the drawing of human figures, and the assembling of blocks, is discussed. They performed the latter two tasks poorly. This may be attributable to their culture but it emphasises the unsuitability of these tests for Blacks, in that they are not standardised as a measure of ability for this ethnic group.
