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首页> 外文期刊>The British journal of psychiatry : >Hyperphagic short stature and Prader-Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress
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Hyperphagic short stature and Prader-Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress

机译：高发性矮身材和Prader-Willi综合征：行为表型，基因型和压力指数的比较

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Background The clinical features of hyperphagic short stature (HSS) include short stature secondary to growth hormone insufficiency, excessive appetite (hyperphagia) and mild learning disabilities. Affected children characteristically live in conditions of high psychosocial stress. Symptoms resolve when the child is removed from the stressful environment. Family studies indicate a genetic predisposition. Aims To compare the behavioural and stress profiles of HSS with those of Prader-Willi syndrome (PWS), and to test the hypothesis that the genetic locus that predisposes to HSS co-inherits with the PWS locus at 15q11-13. Method Twenty-five children with HSS, mean age 9.1 (s.d. 3.8) years, 28% female, were compared with 30 children with PWS, mean age 8.8 (s.d. 2.8) years, 33% female. Results The clinical profiles were largely similar across the conditions, but no evidence was found in HSS of co-inheritance of the PWS critical region. Conclusions Hyperphagic short stature is one of the very few behavioural diseases associated with a pathognomonic physiological abnormality. Investigations of the suggested genetic dysregulation, which is so sensitive to environmental influences, may well be of importance in a broader context.
机译：背景高食性矮小身材（HSS）的临床特征包括生长激素不足，继发的食欲不振（食欲亢进）和轻度学习障碍。受影响的儿童通常生活在高度的社会心理压力中。将孩子从压力大的环境中移出后，症状会缓解。家庭研究表明有遗传易感性。目的比较HSS与Prader-Willi综合征（PWS）的行为和压力状况，并检验假说为HSS的遗传基因座与PWS基因座在15q11-13共遗传。方法将25例HSS儿童（平均年龄9.1（s.d. 3.8）岁，女性占28％）与30例PWS儿童（平均年龄8.8（s.d. 2.8）岁，女性33％）进行比较。结果在不同情况下，临床情况基本相似，但在HSS中未发现PWS关键区域共同遗传的证据。结论高食性矮小身材是极少数与病理性生理异常有关的行为疾病之一。对环境影响非常敏感的建议的遗传失调的研究在更广泛的背景下很重要。

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