Simon Tony J, Ding Lijun, Bish Joel P, McDonald-McGinn Donna M, Zackai Elaine H, Gee James
Children's Hospital of Philadelphia, 3535 Market Street, Room 1425, Philadelphia, PA 19104, USA.
Neuroimage. 2005 Mar;25(1):169-80. doi: 10.1016/j.neuroimage.2004.11.018. Epub 2005 Jan 8.
Chromosome 22q11.2 deletion syndrome is a highly prevalent genetic disorder whose manifestations include developmental disability and sometimes mental retardation. The few studies that have examined brain morphology in different samples from this population have found similar general patterns, mostly using region of interest measures. We employed voxel-based techniques to concurrently examine specific morphologic changes in multiple brain tissue measures. Results were similar to previous findings of volumetric reductions in the posterior brain. They also extended them in two ways. First, our methods provided greater specificity in the localization of changes detected. Second, the combination of our measures of gray and white matter along with cerebrospinal fluid volume and fractional anisotropy, which indicates the structure of white matter, showed a posterior displacement of and morphologic changes to the corpus callosum in affected children.
22q11.2染色体缺失综合征是一种高度常见的遗传性疾病，其表现包括发育障碍，有时还伴有智力迟钝。少数针对该人群不同样本进行脑形态学研究的报告发现了相似的总体模式，大多采用感兴趣区域测量法。我们采用基于体素的技术，同时检查多个脑组织测量指标中的特定形态学变化。结果与先前关于后脑体积减小的发现相似。我们的研究还在两个方面进行了拓展。第一，我们的方法在检测到的变化定位上具有更高的特异性。第二，我们对灰质、白质以及脑脊液体积和分数各向异性（指示白质结构）的测量结果显示，受影响儿童的胼胝体出现了后移和形态学变化。
