Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 401 Park Dr., Boston, MA 02215, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Mathematics, Statistics and Computer Science, St. Francis Xavier University, Antigonish, NS B2G 2W5, Canada.
Department of Biology, St. Francis Xavier University, Antigonish, NS B2G 2W5, Canada.
Neuroimage Clin. 2019;23:101874. doi: 10.1016/j.nicl.2019.101874. Epub 2019 May 28.
Down syndrome (DS) is a genetic disorder caused by an extra copy of all or part of chromosome 21 and is characterized by intellectual disability. We performed a retrospective analysis of 47 magnetic resonance imaging (MRI) examinations of participants with DS (aged 5 to 22 years) and compared them with a large cohort of 854 brain MRIs obtained from neurotypical participants (aged 5 to 32 years) with the objective of assessing the clinical presentation of Down syndrome, towards better understanding the neurological development associated with the condition. An additional cohort of 26 MRI exams from patients with DS and 139 exams from neurotypical participants (aged 0-5 years) are included as part of a supplementary analysis. Regionally distributed cortical thickness measurements, including average measurements as well as standard deviations (intra-regional cortical thickness variability) were extracted from each examination. The largest effect sizes observed were associated with increased average cortical thickness in the postcentral gyrus with specific abnormalities observed in Brodmann's areas 1 and 3b in DS, which was observed across all age ranges. We also observed strong effect sizes associated with decreased cortical thickness variability in the lateral orbitofrontal gyrus, the postcentral gyrus and more in DS participants. Findings suggest regionally irregular gray matter development in DS that can be detected with MRI.
唐氏综合征（DS）是一种由 21 号染色体全部或部分额外复制引起的遗传疾病，其特征为智力障碍。我们对 47 名唐氏综合征患者（年龄 5 至 22 岁）的磁共振成像（MRI）检查进行了回顾性分析，并将其与一个由 854 名神经典型参与者（年龄 5 至 32 岁）的大脑 MRI 大队列进行了比较，目的是评估唐氏综合征的临床表现，从而更好地了解与该疾病相关的神经发育情况。作为补充分析的一部分，还包括来自唐氏综合征患者的 26 份 MRI 检查和来自神经典型参与者的 139 份 MRI 检查（年龄 0-5 岁）。从每次检查中提取了区域性分布的皮质厚度测量值，包括平均值和标准差（区域内皮质厚度变异性）。观察到的最大效应量与后中央回的平均皮质厚度增加有关，在唐氏综合征中观察到特定的布罗德曼区域 1 和 3b 异常，这种情况在所有年龄范围内都存在。我们还观察到与外侧眶额回、后中央回以及唐氏综合征参与者中皮质厚度变异性降低相关的强烈效应量。研究结果表明，唐氏综合征患者的灰质发育存在区域性不规则，这可以通过 MRI 检测到。
