Paediatrics (RCH) - Research Publications

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Author: Graham, Stephen × Start date: 1992 × End date: 1993 ×

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    CHROMOSOME TESTING IN CHILDREN WITH DEVELOPMENTAL DELAY IN WHOM THE ETIOLOGY IS NOT EVIDENT CLINICALLY
    GRAHAM, SM ; SELIKOWITZ, M (BLACKWELL SCIENCE, 1993-10)
    A review was carried out to establish the value of chromosome testing in children with significant developmental delay, where the aetiology was not evident clinically. During 1990, 315 children had been assessed at a child development clinic and found to be significantly delayed in one or more areas of development; in 256, the aetiology was not evident clinically. Chromosome testing of these children revealed an abnormality in 10 (3.9%). Thirty children had dysmorphic features; six (20%) of these had an abnormal karyotype. Four (2%) of the 226 who had no dysmorphic features had a chromosome abnormality. One hundred and fifty-five children had intellectual disability; eight (5%) of these had an abnormal karyotype. Two (2%) of 101 who had a specific delay in their development had a chromosome abnormality. The advantages of chromosome testing in children with developmental delay in whom the aetiology is not evident clinically are discussed.
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    LONG-TERM NEUROLOGIC CONSEQUENCES OF NUTRITIONAL VITAMIN-B12 DEFICIENCY IN INFANTS
    GRAHAM, SM ; ARVELA, OM ; WISE, GA (MOSBY-ELSEVIER, 1992-11)
    A review of the clinical findings in six infants with nutritional vitamin B12 deficiency seen during the last 10 years was undertaken and an attempt made to obtain long-term neurologic follow-up. There was a consistent clinical pattern in vitamin B12-deficient infants; irritability, anorexia, and failure to thrive were associated with marked developmental regression and poor brain growth. Two of the four patients who qualified for long-term review had a poor intellectual outcome. Although early response to treatment is satisfying, the long-term consequences of nutritional vitamin B12 deficiency in infants emphasize the need for prevention or early recognition of this syndrome.