RECIPROCAL TRANSLOCATION AND MOSAICISM IN A MONGOL.
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Biomedical subjects
Publications and source records attributed to B W RICHARDS.
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A steady reduction of mortality owing to advances in medicine has altered the patterns of disease, increasing the proportionate importance of certain types of disease in the very young and the very old.Neonatal and infant mortality rates in mongolism remain very high. The mortality has nevertheless fallen considerably and this may well be so for other diseases causing mental retardation.Despite dramatic advances in the fields of biochemistry and cytogenetics, revealing many new causes of mental retardation, a large proportion of mentally retarded patients are still undiagnosable in respect of etiology.Other principles of causation, not so often discussed in the medical literature, deserve consideration, e.g. isoimmunization due to other antigens than those of the blood groups and diseases due to deficiency of some trace element. Peculiarities of distribution, geographical, seasonal, occupational or social, merit examination, and recent research along these lines has led to significant results. Whole classes of causes may not have occurred to us, and it may prove fruitful in this respect to turn our minds toward less fashionable paths of thought.
Reduction of intelligence should be differentiated from interference with the use of intelligence by such non-intellective factors as partial deafness and emotional disturbance. The parents of a retarded child want an assessment, a prediction of the eventual achievement level, and a causal explanation if possible. There are varying degrees of knowledge of causation, from recognition of reduced intelligence only, to an understanding of the mechanism of causation in considerable detail from primary cause to ultimate consequence, as in phenylketonuria or isoimmunization. A diagnosis should be as complete as possible, using available modern techniques of investigation, such as chromatography and cytogenetic studies.AMONG THE RECENTLY DESCRIBED SYNDROMES ASSOCIATED WITH MENTAL RETARDATION ARE: (1) spastic paralysis and congenital ichthyosis; (2) Rud's syndrome; (3) deaf-mutism, infantilism, ataxia and a disturbance of hormone metabolism; and (5) sex-linked deaf-mutism.
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