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首页> 美国卫生研究院文献>Journal of Neurodevelopmental Disorders >White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents
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White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents

机译：22q11缺失综合征中的白质微观结构：儿童和青少年的初步扩散张量成像和基于体素的形态学研究

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Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume. However, there are few in vivo studies of both WM microstructural integrity (as measured using Diffusion Tensor (DT)-MRI) and WM volume in the same individual. We used DT-MRI and structural MRI (sMRI) with voxel based morphometry (VBM) to compare, respectively, the fractional anisotropy (FA) and WM volume of 11 children and adolescents with 22q11DS and 12 controls. Also, within 22q11DS we related differences in WM to severity of schizotypy, and polymorphism of the catechol-O-methyltransferase (COMT) gene. People with 22q11DS had significantly lower FA in inter-hemispheric and brainstem and frontal, parietal and temporal lobe regions after covarying for IQ. Significant WM volumetric increases were found in the internal capsule, anterior brainstem and frontal and occipital lobes. There was a significant negative correlation between increased schizotypy scores and reduced WM FA in the right posterior limb of internal capsule and the right body and left splenium of corpus callosum. Finally, the Val allele of COMT was associated with a significant reduction in both FA and volume of WM in the frontal lobes, cingulum and corpus callosum. Young people with 22q11DS have significant differences in both WM microstructure and volume. Also, there is preliminary evidence that within 22q11DS, some regional differences in FA are associated with allelic variation in COMT and may perhaps also be associated with schizotypy.
机译：患有22q11缺失综合症（22q11DS）的年轻人极有可能患上精神病，并且白质（WM）量也有显着差异。但是，在同一个人中，很少有关于WM微结构完整性（使用扩散张量（DT）-MRI测量）和WM体积的体内研究。我们使用基于体素的形态计量学（VBM）的DT-MRI和结构MRI（sMRI）分别比较了22q11DS和12名对照的11名儿童和青少年的分数各向异性（FA）和WM量。同样，在22q11DS内，我们将WM的差异与精神分裂症的严重程度以及儿茶酚-O-甲基转移酶（COMT）基因的多态性相关。改变智商后，患有22q11DS的人在半球间和脑干以及额叶，顶叶和颞叶区域的FA显着降低。在内囊，前脑干以及额叶和枕叶中发现WM体积明显增加。内囊右后肢，and体的右体和左脾中的精神分裂症评分增加和WM FA减少之间存在显着的负相关。最后，COMT的Val等位基因与额叶，扣带和体的FA和WM量的显着减少有关。患有22q11DS的年轻人在WM的微观结构和数量上都有显着差异。同样，有初步证据表明，在22q11DS内，FA的某些区域差异与COMT的等位基因变异有关，也许还与精神分裂症有关。

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