Adeyemi Elizabeth I, Giedd Jay N, Lee Nancy Raitano
Section on Brain Imaging, Child Psychiatry Branch, National Institute of Mental Health, NIH, Bethesda, Maryland.
Am J Med Genet A. 2015 May;167A(5):1107-10. doi: 10.1002/ajmg.a.36820. Epub 2015 Mar 28.
Down syndrome, the most common genetic cause of intellectual disability, offers the opportunity to explore the associations between genetics and both neuroanatomic and neuropsychological phenotypes. This case report summarizes the findings of a neuroimaging and neuropsychology study of two adolescent females with Down syndrome and their same-sex discordant triplet siblings (one from each family; n = 4). Using high-resolution magnetic resonance imaging and surface based morphometric approaches, we offer the first in vivo report of cortical surface area reductions and increases in the thickness of the cortical sheet in youth with Down syndrome relative to their typically developing same-sex triplet siblings.
唐氏综合征是智力残疾最常见的遗传病因，为探索遗传学与神经解剖学及神经心理学表型之间的关联提供了契机。本病例报告总结了一项针对两名患有唐氏综合征的青春期女性及其同性非患唐氏综合征的三胞胎兄弟姐妹（每个家庭各一名；共4人）的神经影像学和神经心理学研究结果。我们采用高分辨率磁共振成像和基于表面的形态测量方法，首次在活体研究中报告了唐氏综合征青少年相对于其发育正常的同性三胞胎兄弟姐妹，存在皮质表面积减少以及皮质板厚度增加的情况。
