Mobbs Dean, Eckert Mark A, Menon Vinod, Mills Debbie, Korenberg Julie, Galaburda Albert M, Rose Fred E, Bellugi Ursula, Reiss Allan L
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305-5719, USA.
Dev Med Child Neurol. 2007 Jun;49(6):433-8. doi: 10.1111/j.1469-8749.2007.00433.x.
Several lines of investigation suggest that individuals with Williams syndrome (WS), a neurodevelopmental disorder of well-characterized genetic etiology, have selective impairments in integrating local image elements into global configurations. We compared global processing abilities in 10 clinically and genetically diagnosed participants with WS (eight females, two males; mean age 31y 10mo [SD 9y 7mo], range 15y 5mo-48y 4mo) with a typically developed (TD) age- and sex-matched comparison group (seven females, one male; mean age 35y 2mo [SD 10y 10mo], range 24y-54y 7mo) using functional magnetic resonance imaging (fMRI). Behavioral data showed participants with WS to be significantly less accurate (p<0.042) together with a non-significant trend to be slower than the TD comparison group while performing the global processing task. fMRI data showed participants with WS to possess reduced activation in the visual and parietal cortices. Participants with WS also showed relatively normal activation in the ventral occipitotemporal cortex, but elevated activation in several posterior thalamic nuclei. These preliminary results largely confirm previous research findings and neural models implicating neurodevelopmental abnormalities in extended subcortical and cortical visual systems in WS, most notably dorsal-stream pathways.
多项研究表明，患有威廉姆斯综合征（WS）的个体，一种具有明确遗传病因的神经发育障碍，在将局部图像元素整合为全局构型方面存在选择性缺陷。我们使用功能磁共振成像（fMRI），将10名临床和基因诊断为WS的参与者（8名女性，2名男性；平均年龄31岁10个月[标准差9岁7个月]，范围15岁5个月至48岁4个月）与一个年龄和性别匹配的典型发育（TD）对照组（7名女性，1名男性；平均年龄35岁2个月[标准差10岁10个月]，范围24岁至54岁7个月）的全局处理能力进行了比较。行为数据显示，在执行全局处理任务时，WS参与者的准确性显著低于TD对照组（p<0.042），且有比TD对照组慢的非显著趋势。fMRI数据显示，WS参与者在视觉和顶叶皮层的激活减少。WS参与者在腹侧枕颞叶皮层也表现出相对正常的激活，但在几个丘脑后核的激活升高。这些初步结果在很大程度上证实了先前的研究发现和神经模型，这些研究发现和模型表明WS患者在扩展的皮层下和皮层视觉系统中存在神经发育异常，最显著的是背侧流途径。
