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一名8岁女性的发作性行为倒退:22q11.2重复综合征的后遗症

Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome.

作者信息

Bahji A, Khalid-Khan S

机构信息

Division of Child & Youth Psychiatry, Queen's University, Canada.

出版信息

Case Rep Psychiatry. 2018 Aug 9;2018:1394356. doi: 10.1155/2018/1394356. eCollection 2018.

Abstract

22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. While its connection to 22q11.2 deletion syndrome is actively investigated, case reports on the neuropsychiatric sequelae of affected individuals have been previously described, largely focusing on comorbid autism spectrum disorder. Here, we present the case of an 8-year-old female experiencing episodes of severe behavioural regression following medical illness. We analyze the case and relate it to the available literature and identify potential risk factors.

摘要

22q11.2 重复综合征是一种最近发现的基因综合征,其神经精神后遗症尚不清楚。虽然正在积极研究它与22q11.2缺失综合征的联系,但之前已有关于受影响个体神经精神后遗症的病例报告,主要集中在共病的自闭症谱系障碍。在此,我们报告一例8岁女性在患病后出现严重行为倒退发作的病例。我们对该病例进行分析,并将其与现有文献相关联,确定潜在风险因素。

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Autistic disorder and 22q11.2 duplication.孤独症谱系障碍与22q11.2重复综合征
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本文引用的文献

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Evidence that duplications of 22q11.2 protect against schizophrenia.22q11.2重复可预防精神分裂症的证据。
Mol Psychiatry. 2014 Jan;19(1):37-40. doi: 10.1038/mp.2013.156. Epub 2013 Nov 12.

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