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溺水作为天使综合征的一种死因。

Drowning as a cause of death in Angelman syndrome.

作者信息

Ishmael Holly A, Begleiter Michael L, Butler Merlin G

机构信息

Children's Mercy Hospitals, University of Missouri-Kansas City School of Medicine, MO 64108, USA.

出版信息

Am J Ment Retard. 2002 Jan;107(1):69-70. doi: 10.1352/0895-8017(2002)107<0069:DAACOD>2.0.CO;2.

Abstract

Angelman syndrome is characterized by mental retardation, seizures, ataxia, inappropriate laughter, lack of speech, a particular facial appearance, and generally a chromosome 15q11-q13 deletion. Recently, a fascination with water and water-related activities has been reported in individuals with the syndrome. We report on a 9.6-year-old male previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. This case further illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. We wish to alert careproviders that this fascination with water and water-related activities may contribute to death and that these individuals should be closely supervised when in the presence of water.

摘要

天使综合征的特征包括智力迟钝、癫痫发作、共济失调、不合时宜的发笑、言语缺失、特殊面容,通常还有15号染色体q11-q13区域的缺失。最近,有报道称该综合征患者对水及与水相关的活动着迷。我们报告一例9.6岁男性,此前被诊断为天使综合征,其意外死于后院浅水池溺水。该病例进一步说明了天使综合征患者对水的着迷,并强调这种着迷可能导致死亡。我们希望提醒护理人员,这种对水及与水相关活动的着迷可能导致死亡,这些患者在有水的环境中时应受到密切监督。

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