Child Neuropsychiatry Unit, Department of Neuroscience, I.R.C.C.S, Children's Hospital "Bambino Gesù", Rome, Italy.
Behav Genet. 2011 May;41(3):394-402. doi: 10.1007/s10519-010-9419-0. Epub 2010 Dec 10.
Previous studies have shown inconsistent results when reporting brain abnormalities in Williams syndrome (WS). This makes an interpretation of clinical and behavioural data uncertain in terms of anatomical localization of brain tissue changes. In this study we employed voxel based morphometry to directly investigate the regional distribution of grey matter (GM) density as a function of individual neuropsychological profiles in individuals with WS. GM maps were regressed against the neuropsychological measures on which WS individuals performed worse than controls. Results showed an association between the regional GM density in the cerebellum, bilaterally, the right Supplementary Motor Area, the right fusiform gyrus, and measures of morpho-syntactic ability. An association was also found between measures of visuo-spatial and visuo-motor abilities and regional GM density in the left cerebellum, left parietal lobule, right superior and left orbital frontal gyri. The study shows the potential to clarify the anatomical substrate underlying specific cognitive deficits in WS.
先前的研究在报告威廉姆斯综合征（WS）患者的大脑异常时显示出不一致的结果。这使得在解释临床和行为数据时，无法确定脑组织变化的解剖定位。在这项研究中，我们采用基于体素的形态计量学方法，直接研究 WS 个体的灰质（GM）密度的区域分布，作为个体神经心理学特征的函数。GM 图谱与 WS 个体的神经心理学测量值进行回归，这些测量值的表现不如对照组。结果显示，小脑、双侧补充运动区、右侧梭状回以及形态句法能力测量值之间存在关联。在左侧小脑、左侧顶叶小叶、右侧额上回和左侧眶额回的 GM 密度与视空间和视运动能力的测量值之间也存在关联。该研究表明，有潜力阐明 WS 特定认知缺陷的解剖基础。
