Department of Molecular Physiology and Biophysics, Center for Human Genetics and Research, Vanderbilt University, Nashville, Tennessee, United States of America.
PLoS One. 2012;7(2):e31913. doi: 10.1371/journal.pone.0031913. Epub 2012 Feb 15.
Williams syndrome (WS) is a rare genetic neurodevelopmental disorder characterized by increased non-social anxiety, sensitivity to sounds and hypersociability. Previous studies have reported contradictory findings with regard to regional brain variation in WS, relying on only one type of morphological measure (usually volume) in each study. The present study aims to contribute to this body of literature and perhaps elucidate some of these discrepancies by examining concurrent measures of cortical thickness, surface area and subcortical volume between WS subjects and typically-developing (TD) controls. High resolution MRI scans were obtained on 31 WS subjects and 50 typically developing control subjects. We derived quantitative regional estimates of cortical thickness, cortical surface area, and subcortical volume using FreeSurfer software. We evaluated between-group ROI differences while controlling for total intracranial volume. In post-hoc exploratory analyses within the WS group, we tested for correlations between regional brain variation and Beck Anxiety Inventory scores. Consistent with our hypothesis, we detected complex patterns of between-group cortical variation, which included lower surface area in combination with greater thickness in the following cortical regions: post central gyrus, cuneus, lateral orbitofrontal cortex and lingual gyrus. Additional cortical regions showed between-group differences in one (but not both) morphological measures. Subcortical volume was lower in the basal ganglia and the hippocampus in WS versus TD controls. Exploratory correlations revealed that anxiety scores were negatively correlated with gray matter surface area in insula, OFC, rostral middle frontal, superior temporal and lingual gyrus. Our results were consistent with previous reports showing structural alterations in regions supporting the socio-affective and visuospatial impairments in WS. However, we also were able to effectively capture novel and complex patterns of cortical differences using both surface area and thickness. In addition, correlation results implicate specific brain regions in levels of anxiety in WS, consistent with previous reports investigating general anxiety disorders in the general population.
威廉姆斯综合征（WS）是一种罕见的遗传性神经发育障碍，其特征是社交焦虑增加、对声音敏感和过度社交。以前的研究报告了关于 WS 区域脑变化的相互矛盾的发现，每个研究都只依赖于一种形态学测量（通常是体积）。本研究旨在为这一文献做出贡献，并通过检查 WS 受试者和典型发育（TD）对照组之间皮质厚度、表面积和皮质下体积的并发测量来阐明其中的一些差异。对 31 名 WS 受试者和 50 名典型发育对照受试者进行了高分辨率 MRI 扫描。我们使用 FreeSurfer 软件得出了皮质厚度、皮质表面积和皮质下体积的定量区域估计值。在控制总颅内体积的情况下，我们评估了组间 ROI 差异。在 WS 组内的事后探索性分析中，我们测试了区域脑变化与贝克焦虑量表评分之间的相关性。与我们的假设一致，我们检测到了组间皮质变化的复杂模式，包括在后中央回、楔前叶、外侧眶额皮质和舌回中，表面积较小，厚度较大。其他皮质区域在一个（而不是两个）形态学测量中显示出组间差异。与 TD 对照组相比，WS 患者的基底神经节和海马体积较小。探索性相关性表明，焦虑评分与岛叶、OFC、额中回、颞上回和舌回的灰质表面积呈负相关。我们的结果与以前的报告一致，表明在支持 WS 社交情感和视空间损伤的区域存在结构改变。然而，我们还能够使用表面积和厚度有效地捕获皮质差异的新颖和复杂模式。此外，相关性结果表明，特定脑区与 WS 中的焦虑水平有关，这与以前调查一般人群中一般焦虑障碍的报告一致。
