Levman Jacob, McCann Bernadette, Baumer Nicole, Lam Melanie Y, Shiohama Tadashi, Cogger Liam, MacDonald Allissa, Takahashi Emi
Department of Computer Science, St. Francis Xavier University, Antigonish, NS B2G 2W5, Canada.
Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, Boston, MA 02129, USA.
Biology (Basel). 2024 Jul 30;13(8):575. doi: 10.3390/biology13080575.
Down syndrome (DS) is a genetic disorder characterized by intellectual disability whose etiology includes an additional partial or full copy of chromosome 21. Brain surface morphometry analyses can potentially assist in providing a better understanding of structural brain differences, and may help characterize DS-specific neurodevelopment. We performed a retrospective surface morphometry study of 73 magnetic resonance imaging (MRI) examinations of DS patients (aged 1 day to 22 years) and compared them to a large cohort of 993 brain MRI examinations of neurotypical participants, aged 1 day to 32 years. Surface curvature measurements, absolute surface area measurements, and surface areas as a percentage of total brain surface area (%TBSA) were extracted from each brain region in each examination. Results demonstrate broad reductions in surface area and abnormalities of surface curvature measurements across the brain in DS. After adjusting our regional surface area measurements as %TBSA, abnormally increased presentation in DS relative to neurotypical controls was observed in the left precentral, bilateral entorhinal, left parahippocampal, and bilateral perirhinal cortices, as well as Brodmann's area 44 (left), and the right temporal pole. Findings suggest the presence of developmental abnormalities of regional %TBSA in DS that can be characterized from clinical MRI examinations.
唐氏综合征（DS）是一种以智力残疾为特征的遗传性疾病，其病因包括额外的部分或全部21号染色体拷贝。脑表面形态测量分析可能有助于更好地理解大脑结构差异，并可能有助于描述唐氏综合征特有的神经发育特征。我们对73例唐氏综合征患者（年龄从1天到22岁）的磁共振成像（MRI）检查进行了回顾性表面形态测量研究，并将其与993例年龄从1天到32岁的典型神经参与者的大脑MRI检查的大型队列进行了比较。在每次检查中，从每个脑区提取表面曲率测量值、绝对表面积测量值以及作为全脑表面积百分比（%TBSA）的表面积。结果表明，唐氏综合征患者全脑的表面积普遍减少，表面曲率测量异常。在将我们的区域表面积测量值调整为%TBSA后，相对于典型神经对照组，唐氏综合征患者在左侧中央前回、双侧内嗅区、左侧海马旁回、双侧嗅周皮质以及布罗德曼44区（左侧）和右侧颞极出现异常增加。研究结果表明，唐氏综合征患者存在区域%TBSA的发育异常，可通过临床MRI检查进行特征描述。
