Haas Brian W, Barnea-Goraly Naama, Sheau Kristen E, Yamagata Bun, Ullas Shruti, Reiss Allan L
Department of Psychology, University of Georgia, Center for Interdisciplinary Brain Sciences Research (CIBSR), Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA.
Center for Interdisciplinary Brain Sciences Research (CIBSR), Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA.
Cereb Cortex. 2014 Oct;24(10):2796-806. doi: 10.1093/cercor/bht135. Epub 2013 May 24.
Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of ∼26-28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition.
威廉姆斯综合征（WS）是一种神经发育疾病，由7号染色体q11.23区域约26 - 28个基因的半合子缺失引起。WS与一种独特的社会认知模式相关。相应地，神经影像学研究表明，WS与成年期参与社会认知的关键脑区的结构改变有关。然而，目前对于WS儿童期社会认知脑网络的神经解剖结构知之甚少。本研究使用扩散张量成像来研究一组特定白质通路（额枕下束[IFOF]和钩束[UF]）以及相关脑区[梭状回（FG）、杏仁核、海马体、眶额内侧回（MOG）]的结构完整性，这些脑区已知参与WS儿童和正常发育（TD）对照组儿童的社会认知。与对照组相比，WS儿童在IFOF和UF内表现出更高的分数各向异性（FA）和轴向扩散率值，以及更低的径向扩散率和表观扩散系数（ADC）值，在FG、杏仁核和海马体内FA值更高，在FG和MOG内ADC值更低。这些发现提供了证据，表明WS基因缺失会影响对社会认知重要的关键白质通路和脑区的发育。
