Cortical and subcortical morphological alteration in Angelman syndrome / Xiaonan DU in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Cortical and subcortical morphological alteration in Angelman syndrome Type de document : texte imprimé Auteurs : Xiaonan DU, Auteur ; Lei WEI, Auteur ; Baofeng YANG, Auteur ; Shasha LONG, Auteur ; Ji WANG, Auteur ; Aiqi SUN, Auteur ; Yonghui JIANG, Auteur ; Zhongwei QIAO, Auteur ; He WANG, Auteur ; Yi WANG, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnostic imaging  Brain/diagnostic imaging  Gray Matter/diagnostic imaging  Magnetic Resonance Imaging/methods  Parietal Lobe  Seizures  Angelman syndrome  Brain morphometry  Mri  Seizure Index. décimale : PER Périodiques Résumé : 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. En ligne : https://dx.doi.org/10.1186/s11689-022-09469-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Cortical and subcortical morphological alteration in Angelman syndrome [texte imprimé] / Xiaonan DU, Auteur ; Lei WEI, Auteur ; Baofeng YANG, Auteur ; Shasha LONG, Auteur ; Ji WANG, Auteur ; Aiqi SUN, Auteur ; Yonghui JIANG, Auteur ; Zhongwei QIAO, Auteur ; He WANG, Auteur ; Yi WANG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnostic imaging  Brain/diagnostic imaging  Gray Matter/diagnostic imaging  Magnetic Resonance Imaging/methods  Parietal Lobe  Seizures  Angelman syndrome  Brain morphometry  Mri  Seizure Index. décimale : PER Périodiques Résumé : 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. En ligne : https://dx.doi.org/10.1186/s11689-022-09469-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis / Lei WEI in Autism Research, 19-1 (January 2026)  

Public ISBD [article]  inAutism Research > 19-1 (January 2026) . - p.e70160 Titre : Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis Type de document : texte imprimé Auteurs : Lei WEI, Auteur ; Xiaonan DU, Auteur ; Zhongwei QIAO, Auteur ; Baofeng YANG, Auteur ; Shasha LONG, Auteur ; Yonghui JIANG, Auteur ; Yi WANG, Auteur ; He WANG, Auteur Article en page(s) : p.e70160 Langues : Anglais (eng) Mots-clés : Angelman syndrome  fixel-based analysis  magnetic resonance imaging  seizure Index. décimale : PER Périodiques Résumé : ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder resulting from UBE3A gene mutations, characterized by intellectual disability, movement disorders, language difficulties, ataxia, microcephaly, and seizures. While previous studies have examined brain connectivity in AS, the specifics of white matter structural changes have remained unclear. In this study, we utilized advanced diffusion MRI techniques to investigate the microstructural abnormalities of white matter for AS patients. A total of 30 AS patients and 19 age- and sex-matched healthy controls were included in the study. We used metrics derived from both fixel-based analysis (FBA) and diffusion tensor imaging to compare the white matter microstructure differences between AS patients and healthy controls. The results indicate that patients with AS have white matter microstructural differences throughout the whole brain, particularly in the corticospinal tract, arcuate fasciculate, and corpus callosum. FBA-derived metrics demonstrated greater specificity and sensitivity than tensor-based measures. Subsequently, we extracted six fiber tracts with significant differences from the FBA analysis and conducted tract-based statistics, including parieto-occipital pontine, anterior commissure, arcuate fasciculate, corticospinal tract, splenium of corpus callosum, and isthmus of corpus callosum. In all six fiber tracts, we found that AS patients with a higher frequency of seizures exhibited more white matter alterations. Overall, this study provides new insights into the structural differences in AS and their association with clinical symptoms, highlighting the extensive white matter differences and their potential impact on patient outcomes. En ligne : https://doi.org/10.1002/aur.70160 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578 [article] Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis [texte imprimé] / Lei WEI, Auteur ; Xiaonan DU, Auteur ; Zhongwei QIAO, Auteur ; Baofeng YANG, Auteur ; Shasha LONG, Auteur ; Yonghui JIANG, Auteur ; Yi WANG, Auteur ; He WANG, Auteur . - p.e70160. Langues : Anglais (eng) in Autism Research > 19-1 (January 2026) . - p.e70160 Mots-clés : Angelman syndrome  fixel-based analysis  magnetic resonance imaging  seizure Index. décimale : PER Périodiques Résumé : ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder resulting from UBE3A gene mutations, characterized by intellectual disability, movement disorders, language difficulties, ataxia, microcephaly, and seizures. While previous studies have examined brain connectivity in AS, the specifics of white matter structural changes have remained unclear. In this study, we utilized advanced diffusion MRI techniques to investigate the microstructural abnormalities of white matter for AS patients. A total of 30 AS patients and 19 age- and sex-matched healthy controls were included in the study. We used metrics derived from both fixel-based analysis (FBA) and diffusion tensor imaging to compare the white matter microstructure differences between AS patients and healthy controls. The results indicate that patients with AS have white matter microstructural differences throughout the whole brain, particularly in the corticospinal tract, arcuate fasciculate, and corpus callosum. FBA-derived metrics demonstrated greater specificity and sensitivity than tensor-based measures. Subsequently, we extracted six fiber tracts with significant differences from the FBA analysis and conducted tract-based statistics, including parieto-occipital pontine, anterior commissure, arcuate fasciculate, corticospinal tract, splenium of corpus callosum, and isthmus of corpus callosum. In all six fiber tracts, we found that AS patients with a higher frequency of seizures exhibited more white matter alterations. Overall, this study provides new insights into the structural differences in AS and their association with clinical symptoms, highlighting the extensive white matter differences and their potential impact on patient outcomes. En ligne : https://doi.org/10.1002/aur.70160 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578

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