Management of hyperactive, inattentive children.
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Attention Deficit Disorder with Hyperactivity↗
Biomedical subjects
R Proops
Publications and source records attributed to R Proops.
A study of mental retardation in children in the Island of Hawaii.
Eighty-one probands from an initial population of 223 school-aged retarded individuals were assessed by history, clinical examination and, where appropriate, cytogenetic analysis. In 51 individuals, the retardation occurred as an isolated event within the family, whereas 30 patients had a family history of retardation. In 39 of the isolated individuals, the retardation was either related to environmental factors or associated with a major neurological abnormality. The remaining 12 patients were phenotypically normal with no cytogenetic abnormality. Of the 30 probands from 15 families with a history of retardation, 3 families had X-linked syndromes. One, with 4 proband daughters, had the mar(X) syndrome and two families were considered to have the phenotypically similar syndrome but without demonstrating the mar(X). In an additional 5 families, the distribution and clinical features of the affected individuals were compatible with nonspecific X-linked mental retardation.
Child↗
Neuronal ceroid lipofuscinosis and arthropathy: a family study.
A family is described in which three children have neuronal ceroid lipofuscinosis and two of them also have an arthropathy. Clinically the children have the late infantile form but pathological evidence shows the recognised overlap with the juvenile form. A fourth child with joint involvement but with normal skin biopsies is described. It is suggested that this family have a specific form of neuronal ceroid lipofuscinosis with arthropathy and that accumulation of metabolites in this storage disease may be age dependent.
Female↗
A clinical study of a family with Cockayne's syndrome.
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Child↗
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation.
A clinical and cytogenetic study has been made of subjects from families who have possible X linked mental retardation. The families were distinguished as those with a clinical diagnosis of Renpenning syndrome and those with other behavioural or physical abnormalities obviating such a diagnosis. All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their blood lymphocytes. In addition, two other families who did not have Renpenning syndrome but had similar clinical features also carried the fragile site Xq27-28. A female age effect was observed and one possible carrier of Renpenning syndrome exhibited the fragile X in 10% of her lymphocytes but was also mentally retarded. Subjects within the same family did not always exhibit the fragile site on a comparable proportion of their cells.
Adult↗