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Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis.
Molecular Psychiatry ( IF 9.6 ) Pub Date : 2020-01-10 , DOI: 10.1038/s41380-019-0638-3
Maria Rogdaki 1, 2 , Maria Gudbrandsen 3 , Robert A McCutcheon 1 , Charlotte E Blackmore 3 , Stefan Brugger 2, 4, 5 , Christine Ecker 3, 6 , Michael C Craig 3, 7 , Eileen Daly 3 , Declan G M Murphy 3, 8 , Oliver Howes 1, 2
Affiliation  

The 22q11.2 deletion syndrome (22q11.2DS) is a neurodevelopmental disorder associated with a number of volumetric brain abnormalities. The syndrome is also associated with an increased risk for neuropsychiatric disorders including schizophrenia and autism spectrum disorder. An earlier meta-analysis showed reduced grey and white matter volumes in individuals with 22q11.2DS. Since this analysis was conducted, the number of studies has increased markedly, permitting more precise estimates of effects and more regions to be examined. Although 22q11.2DS is clinically heterogeneous, it is not known to what extent this heterogeneity is mirrored in neuroanatomy. The aim of this study was thus to investigate differences in mean brain volume and structural variability within regions, between 22q11.2DS and typically developing controls. We examined studies that reported measures of brain volume using MRI in PubMed, Web of Science, Scopus and PsycINFO from inception to 1 May 2019. Data were extracted from studies in order to calculate effect sizes representing case-control difference in mean volume, and in the variability of volume (as measured using the log variability ratio (lnVR) and coefficient of variation ratio (CVR)). We found significant overall decreases in mean volume in 22q11.2DS compared with control for: total brain (g = -0.96; p < 0.001); total grey matter (g = -0.81, p < 0.001); and total white matter (g = -0.81; p < 0.001). There was also a significant overall reduction of mean volume in 22q11.2DS subjects compared with controls in frontal lobe (g = -0.47; p < 0.001), temporal lobe (g = -0.84; p < 0.001), parietal lobe (g = -0.73; p = 0.053), cerebellum (g = -1.25; p < 0.001) and hippocampus (g = -0.90; p < 0.001). Significantly increased variability in 22q11.2DS individuals compared with controls was found only for the hippocampus (VR, 1.14; p = 0.036; CVR, 1.30; p < 0.001), and lateral ventricles (VR, 1.56; p = 0.004). The results support the notion that structural abnormalities in 22q11.2DS and schizophrenia are convergent, and also to some degree with findings in autism spectrum disorder. Finally, the increased variability seen in the hippocampus in 22q11.2DS may underlie some of the heterogeneity observed in the neuropsychiatric phenotype.

中文翻译:

22q11.2 缺失综合征中脑结构异常的程度和异质性:荟萃分析。

22q11.2 缺失综合征 (22q11.2DS) 是一种与许多体积脑异常相关的神经发育障碍。该综合征还与包括精神分裂症和自闭症谱系障碍在内的神经精神疾病的风险增加有关。早期的荟萃分析显示 22q11.2DS 个体的灰质和白质体积减少。自从进行了这项分析以来,研究的数量显着增加,从而可以更精确地估计效果并检查更多区域。尽管 22q11.2DS 在临床上具有异质性,但尚不清楚这种异质性在多大程度上反映在神经解剖学中。因此,本研究的目的是研究 22q11.2DS 和典型发育对照之间的区域内平均脑容量和结构变异性的差异。我们检查了在 PubMed、Web of Science、Scopus 和 PsycINFO 中使用 MRI 从开始到 2019 年 5 月 1 日报告脑容量测量的研究。从研究中提取数据是为了计算代表病例对照平均体积差异的效应大小,以及体积的可变性(使用对数可变性比率 (lnVR) 和变异系数比率 (CVR) 测量)。我们发现与对照组相比,22q11.2DS 的平均体积总体显着下降:总脑(g = -0.96;p < 0.001);总灰质(g = -0.81,p < 0.001);和总白质(g = -0.81;p < 0.001)。与对照组相比,额叶 (g = -0.47; p < 0.001)、颞叶 (g = -0.84; p < 0.001)、顶叶 (g = -0.73;p = 0.053),小脑 (g = -1.25; p < 0.001) 和海马 (g = -0.90; p < 0.001)。仅在海马(VR,1.14;p = 0.036;CVR,1.30;p < 0.001)和侧脑室(VR,1.56;p = 0.004)中发现与对照组相比,22q11.2DS 个体的变异性显着增加。结果支持这样的观点,即 22q11.2DS 和精神分裂症的结构异常是趋同的,并且在某种程度上也与自闭症谱系障碍的发现相一致。最后,在 22q11.2DS 海马体中观察到的变异性增加可能是在神经精神表型中观察到的一些异质性的基础。001) 和侧脑室 (VR, 1.56; p = 0.004)。结果支持这样的观点,即 22q11.2DS 和精神分裂症的结构异常是趋同的,并且在某种程度上也与自闭症谱系障碍的发现相一致。最后,在 22q11.2DS 海马体中观察到的变异性增加可能是在神经精神表型中观察到的一些异质性的基础。001) 和侧脑室 (VR, 1.56; p = 0.004)。结果支持这样的观点,即 22q11.2DS 和精神分裂症的结构异常是趋同的,并且在某种程度上也与自闭症谱系障碍的发现相一致。最后,在 22q11.2DS 海马体中观察到的变异性增加可能是在神经精神表型中观察到的一些异质性的基础。
更新日期:2020-01-10
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