MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.
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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. (+info)
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
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Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl.
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Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism. (+info)