Cortical and subcortical morphological alteration in Angelman syndrome

Journal of Neurodevelopmental Disorders

Research

Yonghui Jiang¹  Yi Wang²  Shasha Long²  Ji Wang²  Xiaonan Du³  Zhongwei Qiao⁴  Aiqi Sun⁵  Baofeng Yang⁶  Lei Wei⁶  He Wang⁷ 

[1] Department of Genetics and Paediatrics, Yale School of Medicine, New Haven, CT, China;Department of Neurology, Children’s Hospital of Fudan University, National Children’s Medical Center, Shanghai, China;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;Department of Radiology, Children’s Hospital of Fudan University, National Children’s Medical Center, Shanghai, China;Human Phenome Institute, Fudan University, Shanghai, China;Institute of Science and Technology for Brain-inspired Intelligence, Fudan University, Shanghai, China;Institute of Science and Technology for Brain-inspired Intelligence, Fudan University, Shanghai, China;Human Phenome Institute, Fudan University, Shanghai, China;Key Laboratory of Computational Neuroscience and BrainInspired Intelligence (Fudan University), Ministry of Education, Shanghai, USA;

关键词: Angelman syndrome;    MRI;    Seizure;    Brain morphometry;   

DOI  :  10.1186/s11689-022-09469-3

 received in 2022-03-23, accepted in 2022-11-28,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundAngelman 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.MethodsSeventy-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.ResultsFirstly, 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.ConclusionsThese 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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