Down syndrome (DS) is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21 and characterized by intellectual disability. We hypothesize that performing a retrospective analysis of 73 magnetic resonance imaging (MRI) examinations of participants with DS (aged 0 to 22 years) and comparing them to a large cohort of 993 brain MRI examinations of neurotypical participants (aged 0 to 32 years), will assist in better understanding what brain differences may explain phenotypic developmental features in DS, as well as to provide valuable confirmation of prospective literature findings clinically. Measurements for both absolute volumes and volumes corrected as a percentage of estimated total intracranial volume (%ETIV) were extracted from each examination. Our results presented novel findings such as volume increases (%ETIV) in the perirhinal cortex, entorhinal cortex, choroid plexus, and Brodmann’s areas (BA) 3a, 3b, and 44, as well as volume decreases (%ETIV) in the white matter of the cuneus, the paracentral lobule, the postcentral gyrus, and the supramarginal gyrus. We also confirmed volumetric brain abnormalities previously discussed in the literature. Findings suggest the presence of volumetric brain abnormalities in DS that can be detected clinically with MRI.

唐氏综合症 (DS) 是一种由 21 号染色体存在额外完整或部分副本引起的遗传性疾病，其特征是智力障碍。我们假设对 DS 参与者（0 至 22 岁）的 73 次磁共振成像 (MRI) 检查进行回顾性分析，并将其与神经典型参与者（0 至 32 岁）的 993 次脑部 MRI 检查进行比较，将有助于更好地理解哪些大脑差异可以解释 DS 的表型发育特征，并为临床上的前瞻性文献发现提供有价值的证实。从每次检查中提取绝对体积和校正为估计颅内总体积 (%ETIV) 百分比的体积测量值。我们的结果提出了新的发现，例如鼻周皮层、内嗅皮层、脉络丛和布罗德曼区 (BA) 3a、3b 和 44 的体积增加 (%ETIV)，以及白质的体积减少 (%ETIV)楔叶、中央旁小叶、中央后回和边缘上回。我们还证实了文献中先前讨论的大脑体积异常。研究结果表明，DS 患者存在脑体积异常，临床上可以通过 MRI 检测到。