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Faire une suggestionAltered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder / Katherine QUESNEL in Autism Research, 19-4 (April 2026)
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Titre : Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Katherine QUESNEL, Auteur ; Jacob ELLEGOOD, Auteur ; Jason P. LERCH, Auteur ; Nathalie G. BÉRUBÉ, Auteur Article en page(s) : e70205 Langues : Anglais (eng) Mots-clés : autism brain structure imaging mice sex differences Index. décimale : PER Périodiques Résumé : ABSTRACT Mutations in the ATRX gene are a primary cause of alpha-thalassemia intellectual disability X-linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly. We previously showed that mice with conditional ATRX ablation in forebrain excitatory neurons display deficits in fear memory and autism-related behaviors, with some effects exhibiting sexual dimorphism. In this study, we used high-resolution magnetic resonance imaging (MRI) to systematically characterize brain structural changes associated with these behavioral abnormalities. Whole-brain analysis revealed male-specific microcephaly, while subregional analysis identified significant reductions in hippocampal structures and increased volume of the caudal cortex in mutant animals of both sexes. We also identified structural alterations in regions retaining ATRX expression, such as the thalamus, midbrain, cerebellum, and several fiber tracts. These findings suggest that ATRX loss disrupts the coordinated development of interconnected brain regions. Overall, our results implicate impaired cortico-thalamic-cerebellar connectivity as a potential neural substrate underlying the autistic-like behaviors observed in this mouse model, providing new insights into the neurobiological basis of ATR-X syndrome. En ligne : https://doi.org/10.1002/aur.70205 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=585
in Autism Research > 19-4 (April 2026) . - e70205[article] Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder [texte imprimé] / Katherine QUESNEL, Auteur ; Jacob ELLEGOOD, Auteur ; Jason P. LERCH, Auteur ; Nathalie G. BÉRUBÉ, Auteur . - e70205.
Langues : Anglais (eng)
in Autism Research > 19-4 (April 2026) . - e70205
Mots-clés : autism brain structure imaging mice sex differences Index. décimale : PER Périodiques Résumé : ABSTRACT Mutations in the ATRX gene are a primary cause of alpha-thalassemia intellectual disability X-linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly. We previously showed that mice with conditional ATRX ablation in forebrain excitatory neurons display deficits in fear memory and autism-related behaviors, with some effects exhibiting sexual dimorphism. In this study, we used high-resolution magnetic resonance imaging (MRI) to systematically characterize brain structural changes associated with these behavioral abnormalities. Whole-brain analysis revealed male-specific microcephaly, while subregional analysis identified significant reductions in hippocampal structures and increased volume of the caudal cortex in mutant animals of both sexes. We also identified structural alterations in regions retaining ATRX expression, such as the thalamus, midbrain, cerebellum, and several fiber tracts. These findings suggest that ATRX loss disrupts the coordinated development of interconnected brain regions. Overall, our results implicate impaired cortico-thalamic-cerebellar connectivity as a potential neural substrate underlying the autistic-like behaviors observed in this mouse model, providing new insights into the neurobiological basis of ATR-X syndrome. En ligne : https://doi.org/10.1002/aur.70205 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=585 The relationship between brain structure and general psychopathology in preadolescents / Louise MEWTON in Journal of Child Psychology and Psychiatry, 63-7 (July 2022)
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Titre : The relationship between brain structure and general psychopathology in preadolescents Type de document : texte imprimé Auteurs : Louise MEWTON, Auteur ; Briana LEES, Auteur ; Lindsay M. SQUEGLIA, Auteur ; Miriam K. FORBES, Auteur ; Matthew SUNDERLAND, Auteur ; Robert F. KRUEGER, Auteur ; Forrest C. KOCH, Auteur ; Andrew BAILLIE, Auteur ; Tim SLADE, Auteur ; Nicholas HOY, Auteur ; Maree TEESSON, Auteur Article en page(s) : p.734-744 Langues : Anglais (eng) Mots-clés : Adolescent Bayes Theorem Brain Child Cognition Humans Male Mental Disorders/psychology Psychopathology Generalized psychopathology brain structure externalizing internalizing preadolescence interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: An emerging body of literature has indicated that broad, transdiagnostic dimensions of psychopathology are associated with alterations in brain structure across the life span. The current study aimed to investigate the relationship between brain structure and broad dimensions of psychopathology in the critical preadolescent period when psychopathology is emerging. METHODS: This study included baseline data from the Adolescent Brain and Cognitive Development (ABCD) Study(®) (n=11,875; age range=9-10 years; male=52.2%). General psychopathology, externalizing, internalizing, and thought disorder dimensions were based on a higher-order model of psychopathology and estimated using Bayesian plausible values. Outcome variables included global and regional cortical volume, thickness, and surface area. RESULTS: Higher levels of psychopathology across all dimensions were associated with lower volume and surface area globally, as well as widespread and pervasive alterations across the majority of cortical and subcortical regions studied, after adjusting for sex, race/ethnicity, parental education, income, and maternal psychopathology. The relationships between general psychopathology and brain structure were attenuated when adjusting for cognitive functioning. There were no statistically significant relationships between psychopathology and cortical thickness in this sample of preadolescents. CONCLUSIONS: The current study identified lower cortical volume and surface area as transdiagnostic biomarkers for general psychopathology in preadolescence. Future research may focus on whether the widespread and pervasive relationships between general psychopathology and brain structure reflect cognitive dysfunction that is a feature across a range of mental illnesses. En ligne : http://dx.doi.org/10.1111/jcpp.13513 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Journal of Child Psychology and Psychiatry > 63-7 (July 2022) . - p.734-744[article] The relationship between brain structure and general psychopathology in preadolescents [texte imprimé] / Louise MEWTON, Auteur ; Briana LEES, Auteur ; Lindsay M. SQUEGLIA, Auteur ; Miriam K. FORBES, Auteur ; Matthew SUNDERLAND, Auteur ; Robert F. KRUEGER, Auteur ; Forrest C. KOCH, Auteur ; Andrew BAILLIE, Auteur ; Tim SLADE, Auteur ; Nicholas HOY, Auteur ; Maree TEESSON, Auteur . - p.734-744.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-7 (July 2022) . - p.734-744
Mots-clés : Adolescent Bayes Theorem Brain Child Cognition Humans Male Mental Disorders/psychology Psychopathology Generalized psychopathology brain structure externalizing internalizing preadolescence interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: An emerging body of literature has indicated that broad, transdiagnostic dimensions of psychopathology are associated with alterations in brain structure across the life span. The current study aimed to investigate the relationship between brain structure and broad dimensions of psychopathology in the critical preadolescent period when psychopathology is emerging. METHODS: This study included baseline data from the Adolescent Brain and Cognitive Development (ABCD) Study(®) (n=11,875; age range=9-10 years; male=52.2%). General psychopathology, externalizing, internalizing, and thought disorder dimensions were based on a higher-order model of psychopathology and estimated using Bayesian plausible values. Outcome variables included global and regional cortical volume, thickness, and surface area. RESULTS: Higher levels of psychopathology across all dimensions were associated with lower volume and surface area globally, as well as widespread and pervasive alterations across the majority of cortical and subcortical regions studied, after adjusting for sex, race/ethnicity, parental education, income, and maternal psychopathology. The relationships between general psychopathology and brain structure were attenuated when adjusting for cognitive functioning. There were no statistically significant relationships between psychopathology and cortical thickness in this sample of preadolescents. CONCLUSIONS: The current study identified lower cortical volume and surface area as transdiagnostic biomarkers for general psychopathology in preadolescence. Future research may focus on whether the widespread and pervasive relationships between general psychopathology and brain structure reflect cognitive dysfunction that is a feature across a range of mental illnesses. En ligne : http://dx.doi.org/10.1111/jcpp.13513 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 Identifying structural brain markers of resilience to adversity in young people using voxel-based morphometry / Stephane A. DE BRITO ; Graeme FAIRCHILD ; Christine M. FREITAG ; Karen GONZALEZ-MADRUGA ; Catherine HAMILTON-GIACHRITSIS ; Gregor KOHLS ; Kerstin KONRAD ; Anne MARTINELLI ; Nora RASCHLE ; Jack C. ROGERS ; Areti SMARAGDI ; Christina STADLER ; Marlene STAGINNUS ; Nicola TOSCHI in Development and Psychopathology, 35-5 (December 2023)
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Titre : Identifying structural brain markers of resilience to adversity in young people using voxel-based morphometry Type de document : texte imprimé Auteurs : Stephane A. DE BRITO, Auteur ; Graeme FAIRCHILD, Auteur ; Christine M. FREITAG, Auteur ; Karen GONZALEZ-MADRUGA, Auteur ; Catherine HAMILTON-GIACHRITSIS, Auteur ; Gregor KOHLS, Auteur ; Kerstin KONRAD, Auteur ; Anne MARTINELLI, Auteur ; Nora RASCHLE, Auteur ; Jack C. ROGERS, Auteur ; Areti SMARAGDI, Auteur ; Christina STADLER, Auteur ; Marlene STAGINNUS, Auteur ; Nicola TOSCHI, Auteur Article en page(s) : p.2302-2314 Mots-clés : Resilience adversity brain structure voxel-based morphometry youth Index. décimale : PER Périodiques Résumé : There is increasing evidence that resilience in youth may have a neurobiological basis. However, the existing literature lacks a consistent way of operationalizing resilience, often relying on arbitrary judgments or narrow definitions (e.g., not developing PTSD) to classify individuals as resilient. Therefore, this study used data-driven, continuous resilience scores based on adversity and psychopathology to investigate associations between resilience and brain structure in youth. Structural MRI data from 298 youth aged 9 18 years (Mage = 13.51; 51% female) who participated in the European multisite FemNAT-CD study were preprocessed using SPM12 and analyzed using voxel-based morphometry. Resilience scores were derived by regressing data on adversity exposure against current/lifetime psychopathology and quantifying each individual?s distance from the regression line. General linear models tested for associations between resilience and gray matter volume (GMV) and examined whether associations between resilience and GMV differed by sex. Resilience was positively correlated with GMV in the right inferior frontal and medial frontal gyri. Sex-by-resilience interactions were observed in the middle temporal and middle frontal gyri. These findings demonstrate that resilience in youth is associated with volume in brain regions implicated in executive functioning, emotion regulation, and attention. Our results also provide evidence for sex differences in the neurobiology of resilience. En ligne : https://dx.doi.org/10.1017/S0954579423000718 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=519
in Development and Psychopathology > 35-5 (December 2023) . - p.2302-2314[article] Identifying structural brain markers of resilience to adversity in young people using voxel-based morphometry [texte imprimé] / Stephane A. DE BRITO, Auteur ; Graeme FAIRCHILD, Auteur ; Christine M. FREITAG, Auteur ; Karen GONZALEZ-MADRUGA, Auteur ; Catherine HAMILTON-GIACHRITSIS, Auteur ; Gregor KOHLS, Auteur ; Kerstin KONRAD, Auteur ; Anne MARTINELLI, Auteur ; Nora RASCHLE, Auteur ; Jack C. ROGERS, Auteur ; Areti SMARAGDI, Auteur ; Christina STADLER, Auteur ; Marlene STAGINNUS, Auteur ; Nicola TOSCHI, Auteur . - p.2302-2314.
in Development and Psychopathology > 35-5 (December 2023) . - p.2302-2314
Mots-clés : Resilience adversity brain structure voxel-based morphometry youth Index. décimale : PER Périodiques Résumé : There is increasing evidence that resilience in youth may have a neurobiological basis. However, the existing literature lacks a consistent way of operationalizing resilience, often relying on arbitrary judgments or narrow definitions (e.g., not developing PTSD) to classify individuals as resilient. Therefore, this study used data-driven, continuous resilience scores based on adversity and psychopathology to investigate associations between resilience and brain structure in youth. Structural MRI data from 298 youth aged 9 18 years (Mage = 13.51; 51% female) who participated in the European multisite FemNAT-CD study were preprocessed using SPM12 and analyzed using voxel-based morphometry. Resilience scores were derived by regressing data on adversity exposure against current/lifetime psychopathology and quantifying each individual?s distance from the regression line. General linear models tested for associations between resilience and gray matter volume (GMV) and examined whether associations between resilience and GMV differed by sex. Resilience was positively correlated with GMV in the right inferior frontal and medial frontal gyri. Sex-by-resilience interactions were observed in the middle temporal and middle frontal gyri. These findings demonstrate that resilience in youth is associated with volume in brain regions implicated in executive functioning, emotion regulation, and attention. Our results also provide evidence for sex differences in the neurobiology of resilience. En ligne : https://dx.doi.org/10.1017/S0954579423000718 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=519 Causal Network Analysis Reveals Key Brain Regions Associated With Severity in Children With Autism Spectrum Disorder / Xiaofen SUN in Autism Research, 18-9 (September 2025)
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Titre : Causal Network Analysis Reveals Key Brain Regions Associated With Severity in Children With Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Xiaofen SUN, Auteur ; Haibo WANG, Auteur ; Jingbo DENG, Auteur ; Shitong CHENG, Auteur ; Xiaocheng WANG, Auteur ; Chenghui FU, Auteur ; Ling LI, Auteur ; Yuefu ZHAN, Auteur ; Jianqiang CHEN, Auteur Article en page(s) : p.1746-1763 Langues : Anglais (eng) Mots-clés : autism spectrum disorder brain structure gGranger causality analysis gray matter density parahippocampal gyrus Index. décimale : PER Périodiques Résumé : ABSTRACT This study aims to investigate the relationship between gray matter (GM) changes and severity in children with Autism Spectrum Disorder (ASD). We examined 113 ASD children aged 2 8 years (17 mild cases, 56 moderate cases, and 40 severe cases), as well as 110 age and sex-matched healthy controls (HC). Voxel-based morphometry (VBM) was used to compare GM density (GMD) changes between ASD and HC groups. Additionally, structural covariance network analysis quantified the cross-regional synchronous changes in GM among ASD children, and causal analysis described the pattern of changes in the GM network related to symptom severity in ASD children. The results indicated that ASD children exhibiting mild symptoms have an enlarged parahippocampal gyrus, and as the severity of ASD increases, the range of GMD changes expands (p=0.05, FDR correction). Granger causality (GC) analysis revealed that the parahippocampal gyrus may function as a central hub within ASD-related directional networks, exerting causal effects on other brain regions (p=0.05). These findings were validated by external datasets. Our results provide preliminary insights into the role of the parahippocampal gyrus in ASD and promote the application of dimensional models. En ligne : https://doi.org/10.1002/aur.70098 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=568
in Autism Research > 18-9 (September 2025) . - p.1746-1763[article] Causal Network Analysis Reveals Key Brain Regions Associated With Severity in Children With Autism Spectrum Disorder [texte imprimé] / Xiaofen SUN, Auteur ; Haibo WANG, Auteur ; Jingbo DENG, Auteur ; Shitong CHENG, Auteur ; Xiaocheng WANG, Auteur ; Chenghui FU, Auteur ; Ling LI, Auteur ; Yuefu ZHAN, Auteur ; Jianqiang CHEN, Auteur . - p.1746-1763.
Langues : Anglais (eng)
in Autism Research > 18-9 (September 2025) . - p.1746-1763
Mots-clés : autism spectrum disorder brain structure gGranger causality analysis gray matter density parahippocampal gyrus Index. décimale : PER Périodiques Résumé : ABSTRACT This study aims to investigate the relationship between gray matter (GM) changes and severity in children with Autism Spectrum Disorder (ASD). We examined 113 ASD children aged 2 8 years (17 mild cases, 56 moderate cases, and 40 severe cases), as well as 110 age and sex-matched healthy controls (HC). Voxel-based morphometry (VBM) was used to compare GM density (GMD) changes between ASD and HC groups. Additionally, structural covariance network analysis quantified the cross-regional synchronous changes in GM among ASD children, and causal analysis described the pattern of changes in the GM network related to symptom severity in ASD children. The results indicated that ASD children exhibiting mild symptoms have an enlarged parahippocampal gyrus, and as the severity of ASD increases, the range of GMD changes expands (p=0.05, FDR correction). Granger causality (GC) analysis revealed that the parahippocampal gyrus may function as a central hub within ASD-related directional networks, exerting causal effects on other brain regions (p=0.05). These findings were validated by external datasets. Our results provide preliminary insights into the role of the parahippocampal gyrus in ASD and promote the application of dimensional models. En ligne : https://doi.org/10.1002/aur.70098 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=568 Measures of Cortical Grey Matter Structure and Development in Children with Autism Spectrum Disorder / Kathleen M. MAK-FAN in Journal of Autism and Developmental Disorders, 42-3 (March 2012)
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Titre : Measures of Cortical Grey Matter Structure and Development in Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Kathleen M. MAK-FAN, Auteur ; Margot J. TAYLOR, Auteur ; Wendy ROBERTS, Auteur ; Jason P. LERCH, Auteur Année de publication : 2012 Article en page(s) : p.419-427 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Brain structure Volume Surface area Cortical thickness Development Index. décimale : PER Périodiques Résumé : The current study examined group differences in cortical volume, surface area, and thickness with age, in a group of typically developing children and a group of children with ASD aged 6–15 years. Results showed evidence of age by group interactions, suggesting atypicalities in the relation between these measures and age in the ASD group. Additional vertex-based analyses of cortical thickness revealed that specific regions in the left inferior frontal gyrus (BA 44) and left precuneus showed thicker cortex for the ASD group at younger ages only. These data support the hypothesis of an abnormal developmental trajectory of the cortex in ASD, which could have profound effects on other aspects of neural development in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1261-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=152
in Journal of Autism and Developmental Disorders > 42-3 (March 2012) . - p.419-427[article] Measures of Cortical Grey Matter Structure and Development in Children with Autism Spectrum Disorder [texte imprimé] / Kathleen M. MAK-FAN, Auteur ; Margot J. TAYLOR, Auteur ; Wendy ROBERTS, Auteur ; Jason P. LERCH, Auteur . - 2012 . - p.419-427.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-3 (March 2012) . - p.419-427
Mots-clés : Autism spectrum disorder Brain structure Volume Surface area Cortical thickness Development Index. décimale : PER Périodiques Résumé : The current study examined group differences in cortical volume, surface area, and thickness with age, in a group of typically developing children and a group of children with ASD aged 6–15 years. Results showed evidence of age by group interactions, suggesting atypicalities in the relation between these measures and age in the ASD group. Additional vertex-based analyses of cortical thickness revealed that specific regions in the left inferior frontal gyrus (BA 44) and left precuneus showed thicker cortex for the ASD group at younger ages only. These data support the hypothesis of an abnormal developmental trajectory of the cortex in ASD, which could have profound effects on other aspects of neural development in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1261-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=152 Autism spectrum disorders: Neuroimaging findings from systematic reviews / Emmanuel Peng Kiat PUA in Research in Autism Spectrum Disorders, 34 (February 2017)
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PermalinkBreastfeeding duration is associated with larger cortical gray matter volumes in children from the ABCD study / Christian NÚÑEZ in Journal of Child Psychology and Psychiatry, 64-7 (July 2023)
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PermalinkIs there a bit of autism in all of us? Autism spectrum traits are related to cortical thickness differences in both autism and typical development / Line GEBAUER in Research in Autism Spectrum Disorders, 13-14 (May 2015)
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PermalinkWhite matter and development in children with an autism spectrum disorder / Kathleen M. MAK-FAN in Autism, 17-5 (September 2013)
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PermalinkCortical morphological markers in children with autism: a structural magnetic resonance imaging study of thickness, area, volume, and gyrification / Daniel Y.J. YANG in Molecular Autism, 7 (2016)
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