Angelman 综合征的皮质和皮质下形态改变。
Cortical and subcortical morphological alteration in Angelman syndrome.
机构信息
Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Institute of Science and Technology for Brain-inspired Intelligence, Fudan University, Shanghai, China.
出版信息
J Neurodev Disord. 2023 Feb 14;15(1):7. doi: 10.1186/s11689-022-09469-3.
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
背景
天使综合征（AS）是一种伴有严重癫痫发作的神经发育障碍。本研究旨在探讨 AS 患者的脑形态计量学变化，并确定癫痫发作是否与脑发育相关。
方法
对 73 例 AS 患者和 26 名健康对照者（HC）进行高分辨率结构脑 MRI 检查。比较 HC 组与 AS 组、AS 伴发癫痫（AS-Se）组与年龄匹配的 AS 不伴发癫痫（AS-NSe）组间的组间差异。采用基于体素和基于表面的形态计量学分析方法，评估灰质体积、皮质厚度（CTH）和局部脑回指数（LGI），以分析 AS 患者脑皮质和皮质下结构的改变。
结果
首先，与 HC 组相比，AS 患儿的皮质下核、皮质和小脑灰质体积显著减少，而楔前叶的灰质体积显著增加。其次，与 HC 相比，AS 患者的全脑 LGI 显著增加。第三，AS-Se 组与 AS-NSe 组比较，AS-Se 组的尾状核体积显著减小。最后，我们进一步选择尾状核和楔前叶作为 ROI 进行体积分析，AS 组的楔前叶 LGI 显著增加，右侧楔前叶 CTH 显著降低。AS-Se 组与 AS-NSe 组比较，AS-Se 组的尾状核密度显著降低，而只有左侧楔前叶的 CTH 差异有统计学意义。
结论
这些结果揭示了 AS 患者的皮质和皮质下形态改变，包括皮质下核的脑体积普遍减少、楔前叶的灰质体积增加、全脑的 LGI 增加和 CTH 减少。伴发癫痫的患者脑形态异常更严重，提示癫痫发作的发生可能与脑结构异常有关。
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