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一名6岁女孩的脆性X综合征和排泄障碍

Fragile x syndrome and elimination disorders in a 6-year-old girl.

作者信息

Equit M, Sambach H, von Gontard A

机构信息

Saarland University Hospital, Department of Child and Adolescent Psychiatry, Homburg, Germany.

出版信息

Klin Padiatr. 2011 Dec;223(7):430-3. doi: 10.1055/s-0031-1275697. Epub 2011 May 11.

Abstract

A case of a 6-year-old girl with multiple elimination disorders (nocturnal enuresis, functional urinary incontinence and fecal incontinence) and a fragile X-syndrome is described. The late diagnosis of the fragile X-syndrome had implications for treatment as well as for family interaction. With the knowledge of the diagnosis the parents reacted in a more understanding manner regarding the behavioral problems of the child, whereby the elimination problems were reduced. The need for further research on elimination disorders in children with genetic disorders is discussed.

摘要

本文描述了一名患有多种排泄障碍(夜间遗尿、功能性尿失禁和大便失禁)的6岁女孩以及脆性X综合征的病例。脆性X综合征的延迟诊断对治疗以及家庭互动都有影响。在得知诊断结果后,父母对孩子的行为问题反应更加理解,从而排泄问题有所减少。文中讨论了对患有遗传疾病儿童的排泄障碍进行进一步研究的必要性。

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