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唐氏综合征患者的快速临床恶化。

Rapid clinical deterioration in an individual with Down syndrome.

作者信息

Jacobs Julia, Schwartz Alison, McDougle Christopher J, Skotko Brian G

机构信息

Tufts University School of Medicine, Boston, Massachusetts.

Down Syndrome Program, Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.

出版信息

Am J Med Genet A. 2016 Jul;170(7):1899-902. doi: 10.1002/ajmg.a.37674. Epub 2016 May 5.

Abstract

A small percentage of adolescents and young adults with Down syndrome experience a rapid and unexplained deterioration in cognitive, adaptive, and behavioral functioning. Currently, there is no standardized work-up available to evaluate these patients or treat them. Their decline typically involves intellectual deterioration, a loss of skills of daily living, and prominent behavioral changes. Certain cases follow significant life events such as completion of secondary school with friends who proceed on to college or employment beyond the individual with DS. Others develop this condition seemingly unprovoked. Increased attention in the medical community to clinical deterioration in adolescents and young adults with Down syndrome could provide a framework for improved diagnosis, evaluation, and treatment. This report presents a young adult male with Down syndrome who experienced severe and unexplained clinical deterioration, highlighting specific challenges in the systematic evaluation and treatment of these patients. © 2016 Wiley Periodicals, Inc.

摘要

一小部分患有唐氏综合征的青少年和青年会出现认知、适应能力和行为功能迅速且无法解释的衰退。目前,尚无标准化的检查手段可用于评估或治疗这些患者。他们的衰退通常包括智力下降、日常生活技能丧失以及显著的行为改变。某些病例发生在重大生活事件之后,比如与患有唐氏综合征的个体一起完成中学学业的朋友继续上大学或就业。其他病例则似乎毫无缘由地出现这种情况。医学界对患有唐氏综合征的青少年和青年临床衰退的关注度增加,可能会为改进诊断、评估和治疗提供一个框架。本报告介绍了一名患有唐氏综合征的青年男性,他经历了严重且无法解释的临床衰退,突出了对这些患者进行系统评估和治疗时的特定挑战。© 2016威利期刊公司

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