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Faire une suggestionMicrostructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis / Lei WEI in Autism Research, 19-1 (January 2026)
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[article]
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
in Autism Research > 19-1 (January 2026) . - p.e70160[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 White matter microstructural and morphometric alterations in autism: implications for intellectual capabilities / Chun-Hung YEH in Molecular Autism, 13 (2022)
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[article]
Titre : White matter microstructural and morphometric alterations in autism: implications for intellectual capabilities Type de document : texte imprimé Auteurs : Chun-Hung YEH, Auteur ; Rung-Yu TSENG, Auteur ; Hsing-Chang NI, Auteur ; Luca COCCHI, Auteur ; Jung-Chi CHANG, Auteur ; Mei-Yun HSU, Auteur ; En-Nien TU, Auteur ; Yu-Yu WU, Auteur ; Tai-Li CHOU, Auteur ; Susan Shur-Fen GAU, Auteur ; Hsiang-Yuan LIN, Auteur Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder/diagnostic imaging/pathology Autistic Disorder/diagnostic imaging/pathology Brain/diagnostic imaging/pathology Corpus Callosum/diagnostic imaging Diffusion Magnetic Resonance Imaging/methods Humans White Matter/diagnostic imaging/pathology Autism spectrum disorder Cerebellum Diffusion MRI Fixel-based analysis Intellectual disabilities Minimally verbal status Index. décimale : PER Périodiques Résumé : BACKGROUND: Neuroimage literature of autism spectrum disorder (ASD) has a moderate-to-high risk of bias, partially because those combined with intellectual impairment (II) and/or minimally verbal (MV) status are generally ignored. We aimed to provide more comprehensive insights into white matter alterations of ASD, inclusive of individuals with II (ASD-II-Only) or MV expression (ASD-MV). METHODS: Sixty-five participants with ASD (ASD-Whole; 16.6+5.9 years; comprising 34 intellectually able youth, ASD-IA, and 31 intellectually impaired youth, ASD-II, including 24 ASD-II-Only plus 7 ASD-MV) and 38 demographic-matched typically developing controls (TDC; 17.3+5.6 years) were scanned in accelerated diffusion-weighted MRI. Fixel-based analysis was undertaken to investigate the categorical differences in fiber density (FD), fiber cross section (FC), and a combined index (FDC), and brain symptom/cognition associations. RESULTS: ASD-Whole had reduced FD in the anterior and posterior corpus callosum and left cerebellum Crus I, and smaller FDC in right cerebellum Crus II, compared to TDC. ASD-IA, relative to TDC, had no significant discrepancies, while ASD-II showed almost identical alterations to those from ASD-Whole vs. TDC. ASD-II-Only had greater FD/FDC in the isthmus splenium of callosum than ASD-MV. Autistic severity negatively correlated with FC in right Crus I. Nonverbal full-scale IQ positively correlated with FC/FDC in cerebellum VI. FD/FDC of the right dorsolateral prefrontal cortex showed a diagnosis-by-executive function interaction. LIMITATIONS: We could not preclude the potential effects of age and sex from the ASD cohort, although statistical tests suggested that these factors were not influential. Our results could be confounded by variable psychiatric comorbidities and psychotropic medication uses in our ASD participants recruited from outpatient clinics, which is nevertheless closer to a real-world presentation of ASD. The outcomes related to ASD-MV were considered preliminaries due to the small sample size within this subgroup. Finally, our study design did not include intellectual impairment-only participants without ASD to disentangle the mixture of autistic and intellectual symptoms. CONCLUSIONS: ASD-associated white matter alterations appear driven by individuals with II and potentially further by MV. Results suggest that changes in the corpus callosum and cerebellum are key for psychopathology and cognition associated with ASD. Our work highlights an essential to include understudied subpopulations on the spectrum in research. En ligne : http://dx.doi.org/10.1186/s13229-022-00499-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Molecular Autism > 13 (2022) . - 21 p.[article] White matter microstructural and morphometric alterations in autism: implications for intellectual capabilities [texte imprimé] / Chun-Hung YEH, Auteur ; Rung-Yu TSENG, Auteur ; Hsing-Chang NI, Auteur ; Luca COCCHI, Auteur ; Jung-Chi CHANG, Auteur ; Mei-Yun HSU, Auteur ; En-Nien TU, Auteur ; Yu-Yu WU, Auteur ; Tai-Li CHOU, Auteur ; Susan Shur-Fen GAU, Auteur ; Hsiang-Yuan LIN, Auteur . - 21 p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 21 p.
Mots-clés : Adolescent Autism Spectrum Disorder/diagnostic imaging/pathology Autistic Disorder/diagnostic imaging/pathology Brain/diagnostic imaging/pathology Corpus Callosum/diagnostic imaging Diffusion Magnetic Resonance Imaging/methods Humans White Matter/diagnostic imaging/pathology Autism spectrum disorder Cerebellum Diffusion MRI Fixel-based analysis Intellectual disabilities Minimally verbal status Index. décimale : PER Périodiques Résumé : BACKGROUND: Neuroimage literature of autism spectrum disorder (ASD) has a moderate-to-high risk of bias, partially because those combined with intellectual impairment (II) and/or minimally verbal (MV) status are generally ignored. We aimed to provide more comprehensive insights into white matter alterations of ASD, inclusive of individuals with II (ASD-II-Only) or MV expression (ASD-MV). METHODS: Sixty-five participants with ASD (ASD-Whole; 16.6+5.9 years; comprising 34 intellectually able youth, ASD-IA, and 31 intellectually impaired youth, ASD-II, including 24 ASD-II-Only plus 7 ASD-MV) and 38 demographic-matched typically developing controls (TDC; 17.3+5.6 years) were scanned in accelerated diffusion-weighted MRI. Fixel-based analysis was undertaken to investigate the categorical differences in fiber density (FD), fiber cross section (FC), and a combined index (FDC), and brain symptom/cognition associations. RESULTS: ASD-Whole had reduced FD in the anterior and posterior corpus callosum and left cerebellum Crus I, and smaller FDC in right cerebellum Crus II, compared to TDC. ASD-IA, relative to TDC, had no significant discrepancies, while ASD-II showed almost identical alterations to those from ASD-Whole vs. TDC. ASD-II-Only had greater FD/FDC in the isthmus splenium of callosum than ASD-MV. Autistic severity negatively correlated with FC in right Crus I. Nonverbal full-scale IQ positively correlated with FC/FDC in cerebellum VI. FD/FDC of the right dorsolateral prefrontal cortex showed a diagnosis-by-executive function interaction. LIMITATIONS: We could not preclude the potential effects of age and sex from the ASD cohort, although statistical tests suggested that these factors were not influential. Our results could be confounded by variable psychiatric comorbidities and psychotropic medication uses in our ASD participants recruited from outpatient clinics, which is nevertheless closer to a real-world presentation of ASD. The outcomes related to ASD-MV were considered preliminaries due to the small sample size within this subgroup. Finally, our study design did not include intellectual impairment-only participants without ASD to disentangle the mixture of autistic and intellectual symptoms. CONCLUSIONS: ASD-associated white matter alterations appear driven by individuals with II and potentially further by MV. Results suggest that changes in the corpus callosum and cerebellum are key for psychopathology and cognition associated with ASD. Our work highlights an essential to include understudied subpopulations on the spectrum in research. En ligne : http://dx.doi.org/10.1186/s13229-022-00499-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477

