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[22q11染色体缺失综合征及其与儿童和青少年精神病学的相关性。病因、身体症状、儿童发育方面及精神障碍概述]

[Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].

作者信息

Briegel W, Cohen M

机构信息

Klinik für Kinder- und Jugendpsychiatrie und Psychotherapie, Bezirkskrankenhaus Landshut.

出版信息

Z Kinder Jugendpsychiatr Psychother. 2004 May;32(2):107-15. doi: 10.1024/1422-4917.32.2.107.

DOI:10.1024/1422-4917.32.2.107
PMID:15181786
Abstract

22q11.2 deletion syndrome is the most common interstitial deletion syndrome in humans. Patients with this syndrome can show a variety of somatic symptoms, especially characteristic facial abnormalities, heart defects, thymic hypo- or aplasia and velopharyngeal dysfunction with or without cleft palate. Disturbancies in motor, language, cognitive and social development are typical, as well as psychiatric disorders. Psychiatric disorders in children and adolescents are mostly attention-deficit/hyperactivity disorder, affective disorders, and autism spectrum problems. Schizophrenia in adults seems to be caused by 22q11.2 deletion in about 2% of all patients. We review current knowledge about etiology, physical features, developmental aspects and psychiatric comorbidity in 22q11.2 deletion syndrome as well as possible therapeutic interventions. Clinical criteria for genetic examinations on 22q11.2 deletion in children and adolescents with psychiatric disorders are defined. Until now 22q11.2 deletion is underdiagnosed in this population--despite of its clinical relevance.

摘要

22q11.2缺失综合征是人类最常见的间质性缺失综合征。患有该综合征的患者可能会出现多种躯体症状,尤其是典型的面部异常、心脏缺陷、胸腺发育不全或发育不良以及腭咽功能障碍(伴或不伴腭裂)。运动、语言、认知和社交发育障碍以及精神疾病很常见。儿童和青少年的精神疾病大多为注意力缺陷/多动障碍、情感障碍和自闭症谱系问题。在所有成人精神分裂症患者中,约2%似乎是由22q11.2缺失引起的。我们综述了有关22q11.2缺失综合征的病因、身体特征、发育方面和精神疾病共病情况以及可能的治疗干预措施的现有知识。确定了对患有精神疾病的儿童和青少年进行22q11.2缺失基因检测的临床标准。尽管22q11.2缺失具有临床相关性,但到目前为止,该人群中对此诊断不足。

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引用本文的文献

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Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.22q11.2 缺失综合征个体的精神障碍的非药物治疗:系统评价。
Am J Med Genet A. 2018 Aug;176(8):1742-1747. doi: 10.1002/ajmg.a.38612. Epub 2018 Jan 24.
2
The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.22q11.2 缺失综合征:揭示生命全程中复杂神经精神障碍的窗口
Biol Psychiatry. 2014 Mar 1;75(5):351-60. doi: 10.1016/j.biopsych.2013.07.019. Epub 2013 Aug 28.