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22q11.2 缺失综合征磁共振成像表现的系统评价和多模态荟萃分析:是否需要更多证据?

Systematic review and multi-modal meta-analysis of magnetic resonance imaging findings in 22q11.2 deletion syndrome: Is more evidence needed?

机构信息

Department of Psychosis Studies, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK; Department of General Psychology, University of Padua, Padua, Italy.

Department of Psychosis Studies, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

出版信息

Neurosci Biobehav Rev. 2019 Dec;107:143-153. doi: 10.1016/j.neubiorev.2019.09.004. Epub 2019 Sep 4.

Abstract

22q11.2 deletion syndrome (DS) is considered to be the most robust genetic model of psychosis. In the last decade, there has been increased interest in the brain abnormalities associated with these genetic changes. Most imaging findings in this population come from small samples. This increases the risk of reporting spurious effects that reflect the idiosyncrasies of each study. Thus, the current work is aimed at identifying whether there are spatially consistent structural and functional brain abnormalities in individuals with 22q11.2 DS through (i) a comprehensive label-based systematic review and (ii) a coordinate-based meta-analysis of magnetic resonance imaging studies. The systematic review identified the frontal middle gyri, posterior cingulum, right cuneus and bilateral precuneus as the most affected regions. The meta-analysis revealed consistent abnormalities in the bilateral inferior parietal lobe, right precuneus, right superior temporal gyrus and posterior cingulate cortex. This study provides an important starting point for future research as it sheds light on possible genetically determined psychosis susceptibility regions.

摘要

22q11.2 缺失综合征(DS)被认为是精神分裂症最可靠的遗传模型。在过去的十年中,人们对与这些遗传变化相关的大脑异常越来越感兴趣。该人群的大多数影像学发现来自小样本。这增加了报告虚假效应的风险,这些效应反映了每项研究的特殊性。因此,目前的工作旨在通过(i)全面的基于标签的系统评价和(ii)磁共振成像研究的基于坐标的荟萃分析,确定 22q11.2 DS 个体是否存在空间一致的结构和功能大脑异常。系统评价确定额中回、后扣带、右侧楔叶和双侧楔前叶为受影响最严重的区域。荟萃分析显示双侧顶下小叶、右侧楔前叶、右侧颞上回和后扣带皮层存在一致的异常。这项研究为未来的研究提供了一个重要的起点,因为它揭示了可能由遗传决定的精神分裂症易感性区域。

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