Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development. Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with seizure (AS-Se) and age-matched AS patients with non-seizure (AS-NSe) were compared. The voxel-based and surface-based morphometry analyses were used in our study. Gray matter volume, cortical thickness (CTH), and local gyrification index (LGI) were assessed to analyze the cortical and subcortical structure alteration in the AS brain. Firstly, compared with the HC group, children with AS were found to have a significant decrease in gray matter volume in the subcortical nucleus, cortical, and cerebellum. However, the gray matter volume of AS patients in the inferior precuneus was significantly increased. Secondly, patients with AS had significantly increased LGI in the whole brain as compared with HC. Thirdly, the comparison of AS-Se and the AS-NSe groups revealed a significant decrease in caudate volume in the AS-Se group. Lastly, we further selected the caudate and the precuneus as ROIs for volumetric analysis, the AS group showed significantly increased LGI in the precuneus and reduced CTH in the right precuneus. Between the AS-Se and the AS-NSe groups, the AS-Se group exhibited significantly lower density in the caudate, while only the CTH in the left precuneus showed a significant difference. These results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes.

中文翻译：

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Angelman 综合征的皮质和皮质下形态学改变

Angelman 综合征 (AS) 是一种伴有严重癫痫发作的神经发育障碍。我们的目标是探索 AS 患者的大脑形态计量学，并弄清楚癫痫发作是否与大脑发育有关。73 名患者和 26 名健康对照者 (HC) 接受了高分辨率结构性脑 MRI。比较了 HC 组和 AS 组之间的组别差异，以及癫痫发作 AS 患者 (AS-Se) 和年龄匹配的非癫痫发作 AS 患者 (AS-NSe) 之间的组别差异。在我们的研究中使用了基于体素和基于表面的形态学分析。评估灰质体积、皮质厚度 (CTH) 和局部旋转指数 (LGI) 以分析 AS 大脑的皮质和皮质下结构改变。首先，与HC组相比，发现患有 AS 的儿童皮质下核、皮质和小脑的灰质体积显着减少。然而，AS患者下楔前叶的灰质体积显着增加。其次，与 HC 相比，AS 患者的全脑 LGI 显着增加。第三，比较 AS-Se 和 AS-NSe 组显示 AS-Se 组的尾状核体积显着减少。最后，我们进一步选择尾状核和楔前叶作为体积分析的 ROI，AS 组显示楔前叶的 LGI 显着增加，右侧楔前叶的 CTH 减少。在 AS-Se 和 AS-NSe 组之间，AS-Se 组在尾状核中表现出明显较低的密度，而只有左侧楔前叶的 CTH 显示出显着差异。这些结果揭示了 AS 患者的皮质和皮质下形态学改变，包括皮质下核的整体脑容量减少、楔前叶灰质体积增加以及全脑 LGI 增加和 CTH 减少。癫痫发作患者的大脑模式异常更为严重，提示癫痫发作的发生可能与脑部异常变化有关。