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Faire une suggestionTranscallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years / Danielle CHRISTENSEN ; Jingying WANG ; Desirae J. SHIRLEY ; Ann-Marie ORLANDO ; Regilda A. ROMERO ; David E. VAILLANCOURT ; Bradley J. WILKES ; Stephen A. COOMBES ; Zheng WANG in Molecular Autism, 16 (2025)
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[article]
Titre : Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years Type de document : texte imprimé Auteurs : Danielle CHRISTENSEN, Auteur ; Jingying WANG, Auteur ; Desirae J. SHIRLEY, Auteur ; Ann-Marie ORLANDO, Auteur ; Regilda A. ROMERO, Auteur ; David E. VAILLANCOURT, Auteur ; Bradley J. WILKES, Auteur ; Stephen A. COOMBES, Auteur ; Zheng WANG, Auteur Article en page(s) : 16 Langues : Anglais (eng) Mots-clés : Humans Male Gray Matter/diagnostic imaging/pathology White Matter/diagnostic imaging/pathology Female Adult Middle Aged Aged Case-Control Studies Autistic Disorder/diagnostic imaging/pathology Corpus Callosum/diagnostic imaging/pathology Autism Spectrum Disorder/diagnostic imaging/pathology Anisotropy Diffusion Magnetic Resonance Imaging Aging Autism spectrum disorder Autistic adults Diffusion MRI Free water Free water corrected fractional anisotropy Free water corrected mean diffusivity Gray matter Transcallosal tracts White matter in this study were approved by the Institutional Review Board (IRB) at the University of Florida following the Declaration of Helsinki. The IRB number is 202100659, with an approval date of July 26, 2022. Consent for publication: All authors have read and approved the submission. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a lifelong condition that profoundly impacts health, independence, and quality of life. However, research on brain aging in autistic adults is limited, and microstructural variations in white and gray matter remain poorly understood. To address this critical gap, we assessed novel diffusion MRI (dMRI) biomarkers, free water, and free water corrected fractional anisotropy (fwcFA), and mean diffusivity (fwcMD) across 32 transcallosal tracts and their corresponding homotopic grey matter origin/endpoint regions of interest (ROIs) in middle and old aged autistic adults. METHODS: Forty-three autistic adults aged 30-73 and 43 age-, sex-, and IQ-matched neurotypical controls underwent dMRI scans. We examined free water, fwcFA, fwcMD differences between the two groups and age-related pattern of each dMRI metric across the whole brain for each group. The relationships between clinical measures of ASD and free water in regions that significantly differentiated autistic adults from neurotypical controls were also explored. In supplementary analyses, we also assessed free water uncorrected FA and MD using conventional single tensor modeling. RESULTS: Autistic adults exhibited significantly elevated free water in seven frontal transcallosal tracts compared to controls. In controls, age-related increases in free water and decreases in fwcFA were observed across most transcallosal tracts. However, these age-associated patterns were entirely absent in autistic adults. In gray matter, autistic adults showed elevated free water in the calcarine cortices and lower fwcMD in the dorsal premotor cortices compared to controls. Lastly, age-related increases in free water were found across all white matter and gray matter ROIs in neurotypical controls, whereas no age-related associations were detected in any dMRI metrics for autistic adults. LIMITATIONS: We only recruited cognitively capable autistic adults, which limits the generalizability of our findings across the full autism spectrum. The cross-sectional design precludes inferences about microstructural changes over time in middle and old aged autistic adults. CONCLUSIONS: Our findings revealed increased free water load in frontal white matter in autistic adults and identified distinct age-associated microstructural variations between the two groups. These findings highlight more heterogeneous brain aging profiles in autistic adults. Our study also demonstrated the importance of quantifying free water in dMRI studies of ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00652-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555
in Molecular Autism > 16 (2025) . - 16[article] Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years [texte imprimé] / Danielle CHRISTENSEN, Auteur ; Jingying WANG, Auteur ; Desirae J. SHIRLEY, Auteur ; Ann-Marie ORLANDO, Auteur ; Regilda A. ROMERO, Auteur ; David E. VAILLANCOURT, Auteur ; Bradley J. WILKES, Auteur ; Stephen A. COOMBES, Auteur ; Zheng WANG, Auteur . - 16.
Langues : Anglais (eng)
in Molecular Autism > 16 (2025) . - 16
Mots-clés : Humans Male Gray Matter/diagnostic imaging/pathology White Matter/diagnostic imaging/pathology Female Adult Middle Aged Aged Case-Control Studies Autistic Disorder/diagnostic imaging/pathology Corpus Callosum/diagnostic imaging/pathology Autism Spectrum Disorder/diagnostic imaging/pathology Anisotropy Diffusion Magnetic Resonance Imaging Aging Autism spectrum disorder Autistic adults Diffusion MRI Free water Free water corrected fractional anisotropy Free water corrected mean diffusivity Gray matter Transcallosal tracts White matter in this study were approved by the Institutional Review Board (IRB) at the University of Florida following the Declaration of Helsinki. The IRB number is 202100659, with an approval date of July 26, 2022. Consent for publication: All authors have read and approved the submission. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a lifelong condition that profoundly impacts health, independence, and quality of life. However, research on brain aging in autistic adults is limited, and microstructural variations in white and gray matter remain poorly understood. To address this critical gap, we assessed novel diffusion MRI (dMRI) biomarkers, free water, and free water corrected fractional anisotropy (fwcFA), and mean diffusivity (fwcMD) across 32 transcallosal tracts and their corresponding homotopic grey matter origin/endpoint regions of interest (ROIs) in middle and old aged autistic adults. METHODS: Forty-three autistic adults aged 30-73 and 43 age-, sex-, and IQ-matched neurotypical controls underwent dMRI scans. We examined free water, fwcFA, fwcMD differences between the two groups and age-related pattern of each dMRI metric across the whole brain for each group. The relationships between clinical measures of ASD and free water in regions that significantly differentiated autistic adults from neurotypical controls were also explored. In supplementary analyses, we also assessed free water uncorrected FA and MD using conventional single tensor modeling. RESULTS: Autistic adults exhibited significantly elevated free water in seven frontal transcallosal tracts compared to controls. In controls, age-related increases in free water and decreases in fwcFA were observed across most transcallosal tracts. However, these age-associated patterns were entirely absent in autistic adults. In gray matter, autistic adults showed elevated free water in the calcarine cortices and lower fwcMD in the dorsal premotor cortices compared to controls. Lastly, age-related increases in free water were found across all white matter and gray matter ROIs in neurotypical controls, whereas no age-related associations were detected in any dMRI metrics for autistic adults. LIMITATIONS: We only recruited cognitively capable autistic adults, which limits the generalizability of our findings across the full autism spectrum. The cross-sectional design precludes inferences about microstructural changes over time in middle and old aged autistic adults. CONCLUSIONS: Our findings revealed increased free water load in frontal white matter in autistic adults and identified distinct age-associated microstructural variations between the two groups. These findings highlight more heterogeneous brain aging profiles in autistic adults. Our study also demonstrated the importance of quantifying free water in dMRI studies of ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00652-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 Association of polygenic scores for autism with volumetric MRI phenotypes in cerebellum and brainstem in adults / Salahuddin MOHAMMAD in Molecular Autism, 15 (2024)
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[article]
Titre : Association of polygenic scores for autism with volumetric MRI phenotypes in cerebellum and brainstem in adults Type de document : texte imprimé Auteurs : Salahuddin MOHAMMAD, Auteur ; Mélissa GENTREAU, Auteur ; Manon DUBOL, Auteur ; Gull RUKH, Auteur ; Jessica MWINYI, Auteur ; Helgi B. SCHIÖTH, Auteur Article en page(s) : 34p. Langues : Anglais (eng) Mots-clés : Humans Cerebellum/diagnostic imaging/pathology Brain Stem/diagnostic imaging/pathology Magnetic Resonance Imaging Male Female Phenotype Adult Multifactorial Inheritance Genetic Predisposition to Disease Organ Size Middle Aged Autistic Disorder/genetics/diagnostic imaging Genome-Wide Association Study Autism Spectrum Disorder/genetics/diagnostic imaging Gray Matter/diagnostic imaging/pathology Case-Control Studies Autism Brain MRI Brainstem Cerebellum Polygenic risk score Index. décimale : PER Périodiques Résumé : Previous research on autism spectrum disorders (ASD) have showed important volumetric alterations in the cerebellum and brainstem. Most of these studies are however limited to case-control studies with small clinical samples and including mainly children or adolescents. Herein, we aimed to explore the association between the cumulative genetic load (polygenic risk score, PRS) for ASD and volumetric alterations in the cerebellum and brainstem, as well as global brain tissue volumes of the brain among adults at the population level. We utilized the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and constructed the ASD PRS in an independent cohort, the UK Biobank. Regression analyses controlled for multiple comparisons with the false-discovery rate (FDR) at 5% were performed to investigate the association between ASD PRS and forty-four brain magnetic resonance imaging (MRI) phenotypes among ~ 31,000 participants. Primary analyses included sixteen MRI phenotypes: total volumes of the brain, cerebrospinal fluid (CSF), grey matter (GM), white matter (WM), GM of whole cerebellum, brainstem, and ten regions of the cerebellum (I_IV, V, VI, VIIb, VIIIa, VIIIb, IX, X, CrusI and CrusII). Secondary analyses included twenty-eight MRI phenotypes: the sub-regional volumes of cerebellum including the GM of the vermis and both left and right lobules of each cerebellar region. ASD PRS were significantly associated with the volumes of seven brain areas, whereby higher PRS were associated to reduced volumes of the whole brain, WM, brainstem, and cerebellar regions I-IV, IX, and X, and an increased volume of the CSF. Three sub-regional volumes including the left cerebellar lobule I-IV, cerebellar vermes VIIIb, and X were significantly and negatively associated with ASD PRS. The study highlights a substantial connection between susceptibility to ASD, its underlying genetic etiology, and neuroanatomical alterations of the adult brain. En ligne : https://dx.doi.org/10.1186/s13229-024-00611-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538
in Molecular Autism > 15 (2024) . - 34p.[article] Association of polygenic scores for autism with volumetric MRI phenotypes in cerebellum and brainstem in adults [texte imprimé] / Salahuddin MOHAMMAD, Auteur ; Mélissa GENTREAU, Auteur ; Manon DUBOL, Auteur ; Gull RUKH, Auteur ; Jessica MWINYI, Auteur ; Helgi B. SCHIÖTH, Auteur . - 34p.
Langues : Anglais (eng)
in Molecular Autism > 15 (2024) . - 34p.
Mots-clés : Humans Cerebellum/diagnostic imaging/pathology Brain Stem/diagnostic imaging/pathology Magnetic Resonance Imaging Male Female Phenotype Adult Multifactorial Inheritance Genetic Predisposition to Disease Organ Size Middle Aged Autistic Disorder/genetics/diagnostic imaging Genome-Wide Association Study Autism Spectrum Disorder/genetics/diagnostic imaging Gray Matter/diagnostic imaging/pathology Case-Control Studies Autism Brain MRI Brainstem Cerebellum Polygenic risk score Index. décimale : PER Périodiques Résumé : Previous research on autism spectrum disorders (ASD) have showed important volumetric alterations in the cerebellum and brainstem. Most of these studies are however limited to case-control studies with small clinical samples and including mainly children or adolescents. Herein, we aimed to explore the association between the cumulative genetic load (polygenic risk score, PRS) for ASD and volumetric alterations in the cerebellum and brainstem, as well as global brain tissue volumes of the brain among adults at the population level. We utilized the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and constructed the ASD PRS in an independent cohort, the UK Biobank. Regression analyses controlled for multiple comparisons with the false-discovery rate (FDR) at 5% were performed to investigate the association between ASD PRS and forty-four brain magnetic resonance imaging (MRI) phenotypes among ~ 31,000 participants. Primary analyses included sixteen MRI phenotypes: total volumes of the brain, cerebrospinal fluid (CSF), grey matter (GM), white matter (WM), GM of whole cerebellum, brainstem, and ten regions of the cerebellum (I_IV, V, VI, VIIb, VIIIa, VIIIb, IX, X, CrusI and CrusII). Secondary analyses included twenty-eight MRI phenotypes: the sub-regional volumes of cerebellum including the GM of the vermis and both left and right lobules of each cerebellar region. ASD PRS were significantly associated with the volumes of seven brain areas, whereby higher PRS were associated to reduced volumes of the whole brain, WM, brainstem, and cerebellar regions I-IV, IX, and X, and an increased volume of the CSF. Three sub-regional volumes including the left cerebellar lobule I-IV, cerebellar vermes VIIIb, and X were significantly and negatively associated with ASD PRS. The study highlights a substantial connection between susceptibility to ASD, its underlying genetic etiology, and neuroanatomical alterations of the adult brain. En ligne : https://dx.doi.org/10.1186/s13229-024-00611-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

