Dépouillements

Molecular architecture of the altered cortical complexity in autism / Yiyong CHEN ; Wenwen SHEN ; Lin LI in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 1 Titre : Molecular architecture of the altered cortical complexity in autism Type de document : Texte imprimé et/ou numérique Auteurs : Yiyong CHEN, Auteur ; Wenwen SHEN, Auteur ; Lin LI, Auteur Article en page(s) : 1 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Cerebral Cortex/diagnostic imaging/metabolism/pathology  Magnetic Resonance Imaging  Adult  Autism Spectrum Disorder/genetics/diagnostic imaging/metabolism  Child  Adolescent  Autistic Disorder/genetics/diagnostic imaging  Protein Interaction Maps  Gene Expression Profiling  Young Adult  Transcriptome  Allen human brain atlas  Autism  Cortical complexity  Neuroimaging  Transcriptomics Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II. Using fractal dimension as an index for quantifying cortical complexity, we identified significant regional alterations in ASD, within the left temporoparietal, left peripheral visual, right central visual, left somatomotor (including the insula), and left ventral attention networks. Partial least squares regression analysis revealed gene sets associated with these cortical complexity changes, enriched for biological functions related to synaptic transmission, synaptic plasticity, mitochondrial dysfunction, and chromatin organization. Cell-specific analyses, protein-protein interaction network analysis and gene temporal expression profiling further elucidated the dynamic molecular landscape associated with these alterations. These findings indicate that ASD-related alterations in cortical complexity are closely linked to specific genetic pathways. The combined analysis of neuroimaging and transcriptomic data enhances our understanding of how genetic factors contribute to brain structural changes in ASD. En ligne : https://dx.doi.org/10.1186/s13229-024-00632-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Molecular architecture of the altered cortical complexity in autism [Texte imprimé et/ou numérique] / Yiyong CHEN, Auteur ; Wenwen SHEN, Auteur ; Lin LI, Auteur . - 1. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 1 Mots-clés : Humans  Male  Female  Cerebral Cortex/diagnostic imaging/metabolism/pathology  Magnetic Resonance Imaging  Adult  Autism Spectrum Disorder/genetics/diagnostic imaging/metabolism  Child  Adolescent  Autistic Disorder/genetics/diagnostic imaging  Protein Interaction Maps  Gene Expression Profiling  Young Adult  Transcriptome  Allen human brain atlas  Autism  Cortical complexity  Neuroimaging  Transcriptomics Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II. Using fractal dimension as an index for quantifying cortical complexity, we identified significant regional alterations in ASD, within the left temporoparietal, left peripheral visual, right central visual, left somatomotor (including the insula), and left ventral attention networks. Partial least squares regression analysis revealed gene sets associated with these cortical complexity changes, enriched for biological functions related to synaptic transmission, synaptic plasticity, mitochondrial dysfunction, and chromatin organization. Cell-specific analyses, protein-protein interaction network analysis and gene temporal expression profiling further elucidated the dynamic molecular landscape associated with these alterations. These findings indicate that ASD-related alterations in cortical complexity are closely linked to specific genetic pathways. The combined analysis of neuroimaging and transcriptomic data enhances our understanding of how genetic factors contribute to brain structural changes in ASD. En ligne : https://dx.doi.org/10.1186/s13229-024-00632-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Suboptimal but intact integration of Bayesian components during perceptual decision-making in autism / Bat-Sheva HADAD ; Rachel N DENISON ; Amit YASHAR in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 2 Titre : Suboptimal but intact integration of Bayesian components during perceptual decision-making in autism Type de document : Texte imprimé et/ou numérique Auteurs : Bat-Sheva HADAD, Auteur ; Rachel N DENISON, Auteur ; Amit YASHAR, Auteur Article en page(s) : 2 Langues : Anglais (eng) Mots-clés : Humans  Bayes Theorem  Decision Making  Autistic Disorder/physiopathology/psychology  Male  Female  Adult  Young Adult  Perception  Adolescent  Autism spectrum disorder  Bayesian perception  Decision-making  Suboptimality  provided written informed consent and the two studies received ethical clearance  from the Institutional Review Board at the University of Haifa under the  reference number 046/20. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Alterations in sensory perception, a core phenotype of autism, are attributed to imbalanced integration of sensory information and prior knowledge during perceptual statistical (Bayesian) inference. This hypothesis has gained momentum in recent years, partly because it can be implemented both at the computational level, as in Bayesian perception, and at the level of canonical neural microcircuitry, as in predictive coding. However, empirical investigations have yielded conflicting results with evidence remaining limited. Critically, previous studies did not assess the independent contributions of priors and sensory uncertainty to the inference. METHOD: We addressed this gap by quantitatively assessing both the independent and interdependent contributions of priors and sensory uncertainty to perceptual decision-making in autistic and non-autistic individuals (N = 126) during an orientation categorization task. RESULTS: Contrary to common views, autistic individuals integrated the two Bayesian components into their decision behavior, and did so indistinguishably from non-autistic individuals. Both groups adjusted their decision criteria in a suboptimal manner. LIMITATIONS: This study focuses on explicit priors in a perceptual categorization task and high-functioning adults. Thus, although the findings provide strong evidence against a general and basic alteration in prior integration in autism, they cannot rule out more specific cases of reduced prior effect - such as due to implicit prior learning, particular level of decision making (e.g., social), and level of functioning of the autistic person. CONCLUSIONS: These results reveal intact inference for autistic individuals during perceptual decision-making, challenging the notion that Bayesian computations are fundamentally altered in autism. En ligne : https://dx.doi.org/10.1186/s13229-025-00639-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Suboptimal but intact integration of Bayesian components during perceptual decision-making in autism [Texte imprimé et/ou numérique] / Bat-Sheva HADAD, Auteur ; Rachel N DENISON, Auteur ; Amit YASHAR, Auteur . - 2. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 2 Mots-clés : Humans  Bayes Theorem  Decision Making  Autistic Disorder/physiopathology/psychology  Male  Female  Adult  Young Adult  Perception  Adolescent  Autism spectrum disorder  Bayesian perception  Decision-making  Suboptimality  provided written informed consent and the two studies received ethical clearance  from the Institutional Review Board at the University of Haifa under the  reference number 046/20. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Alterations in sensory perception, a core phenotype of autism, are attributed to imbalanced integration of sensory information and prior knowledge during perceptual statistical (Bayesian) inference. This hypothesis has gained momentum in recent years, partly because it can be implemented both at the computational level, as in Bayesian perception, and at the level of canonical neural microcircuitry, as in predictive coding. However, empirical investigations have yielded conflicting results with evidence remaining limited. Critically, previous studies did not assess the independent contributions of priors and sensory uncertainty to the inference. METHOD: We addressed this gap by quantitatively assessing both the independent and interdependent contributions of priors and sensory uncertainty to perceptual decision-making in autistic and non-autistic individuals (N = 126) during an orientation categorization task. RESULTS: Contrary to common views, autistic individuals integrated the two Bayesian components into their decision behavior, and did so indistinguishably from non-autistic individuals. Both groups adjusted their decision criteria in a suboptimal manner. LIMITATIONS: This study focuses on explicit priors in a perceptual categorization task and high-functioning adults. Thus, although the findings provide strong evidence against a general and basic alteration in prior integration in autism, they cannot rule out more specific cases of reduced prior effect - such as due to implicit prior learning, particular level of decision making (e.g., social), and level of functioning of the autistic person. CONCLUSIONS: These results reveal intact inference for autistic individuals during perceptual decision-making, challenging the notion that Bayesian computations are fundamentally altered in autism. En ligne : https://dx.doi.org/10.1186/s13229-025-00639-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

The preference for surprise in reinforcement learning underlies the differences in developmental changes in risk preference between autistic and neurotypical youth / Kentaro KATAHIRA ; Hironori AKECHI ; Atsushi SENJU in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 3 Titre : The preference for surprise in reinforcement learning underlies the differences in developmental changes in risk preference between autistic and neurotypical youth Type de document : Texte imprimé et/ou numérique Auteurs : Kentaro KATAHIRA, Auteur ; Hironori AKECHI, Auteur ; Atsushi SENJU, Auteur Article en page(s) : 3 Langues : Anglais (eng) Mots-clés : Humans  Adolescent  Child  Male  Female  Reinforcement, Psychology  Young Adult  Autistic Disorder/psychology  Adult  Choice Behavior  Risk-Taking  Learning  Autism  Developmental changes  Reinforcement learning  Risk preference  Surprise  the Declaration of Helsinki and was approved by the Committee on Ethics of  Experimental Research on Human Subjects, Graduate School of Arts and Sciences,  University of Tokyo (156-17). Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Risk preference changes nonlinearly across development. Although extensive developmental research on the neurotypical (NTP) population has shown that risk preference is highest during adolescence, developmental changes in risk preference in autistic (AUT) people, who tend to prefer predictable behaviors, have not been investigated. Here, we aimed to investigate these changes and underlying computational mechanisms. METHOD: We ran a game-like risk-sensitive reinforcement learning task on 75 participants aged 6-30 years (AUT group, n = 31; NTP group, n = 44). Focusing on choices between alternatives with the same objective value but different risks, we calculated the risk preference and stay probability of a risky choice after a rewarding or non-rewarding outcome. Analyses using t-tests and multiple regression analyses were conducted. Using the choice-related data of each participant, we fit four reinforcement learning models and compared the fit of each model to the data. Furthermore, we validated the results of model fitting with multiple methods, model recovery, parameter recovery, and posterior predictive check. RESULTS: We found a significant difference in nonlinear developmental changes in risk preference between the AUT and NTP groups. The computational modeling approach with reinforcement learning models revealed that individual preferences for surprise modulated such preferences. CONCLUSIONS: These findings indicate that for NTP people, adolescence is a developmental period involving risk preference, possibly due to lower surprise aversion. Conversely, for AUT people, who show opposite developmental change of risk preference, adolescence could be a developmental period involving risk avoidance because of low surprise preference. En ligne : https://dx.doi.org/10.1186/s13229-025-00637-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] The preference for surprise in reinforcement learning underlies the differences in developmental changes in risk preference between autistic and neurotypical youth [Texte imprimé et/ou numérique] / Kentaro KATAHIRA, Auteur ; Hironori AKECHI, Auteur ; Atsushi SENJU, Auteur . - 3. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 3 Mots-clés : Humans  Adolescent  Child  Male  Female  Reinforcement, Psychology  Young Adult  Autistic Disorder/psychology  Adult  Choice Behavior  Risk-Taking  Learning  Autism  Developmental changes  Reinforcement learning  Risk preference  Surprise  the Declaration of Helsinki and was approved by the Committee on Ethics of  Experimental Research on Human Subjects, Graduate School of Arts and Sciences,  University of Tokyo (156-17). Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Risk preference changes nonlinearly across development. Although extensive developmental research on the neurotypical (NTP) population has shown that risk preference is highest during adolescence, developmental changes in risk preference in autistic (AUT) people, who tend to prefer predictable behaviors, have not been investigated. Here, we aimed to investigate these changes and underlying computational mechanisms. METHOD: We ran a game-like risk-sensitive reinforcement learning task on 75 participants aged 6-30 years (AUT group, n = 31; NTP group, n = 44). Focusing on choices between alternatives with the same objective value but different risks, we calculated the risk preference and stay probability of a risky choice after a rewarding or non-rewarding outcome. Analyses using t-tests and multiple regression analyses were conducted. Using the choice-related data of each participant, we fit four reinforcement learning models and compared the fit of each model to the data. Furthermore, we validated the results of model fitting with multiple methods, model recovery, parameter recovery, and posterior predictive check. RESULTS: We found a significant difference in nonlinear developmental changes in risk preference between the AUT and NTP groups. The computational modeling approach with reinforcement learning models revealed that individual preferences for surprise modulated such preferences. CONCLUSIONS: These findings indicate that for NTP people, adolescence is a developmental period involving risk preference, possibly due to lower surprise aversion. Conversely, for AUT people, who show opposite developmental change of risk preference, adolescence could be a developmental period involving risk avoidance because of low surprise preference. En ligne : https://dx.doi.org/10.1186/s13229-025-00637-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Autistic and transgender/gender diverse people's experiences of health and healthcare / Elizabeth WEIR ; Lily WRIGHT ; Carrie ALLISON ; Simon BARON-COHEN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 4 Titre : Autistic and transgender/gender diverse people's experiences of health and healthcare Type de document : Texte imprimé et/ou numérique Auteurs : Elizabeth WEIR, Auteur ; Lily WRIGHT, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : 4 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Transgender Persons/psychology  Adult  Autistic Disorder/psychology/epidemiology  Middle Aged  Young Adult  Delivery of Health Care  Adolescent  Surveys and Questionnaires  Autism  Healthcare  Healthcare quality  Mental health  Physical health  Self-harm  Transgender/gender diverse  provided by the Psychology Research Ethics Committee of the University of  Cambridge (PRE.2019.049). Competing interests: Prof. Sir Simon Baron-Cohen was a  founding Co-Editor-in-Chief of Molecular Autism. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals, respectively. Despite this, there is a paucity of studies on the healthcare experiences and health outcomes of transgender/gender diverse autistic individuals. METHODS: We compared the healthcare experiences and health outcomes of cisgender autistic (n = 1094), transgender/gender diverse autistic (n = 174), and cisgender non-autistic adults (n = 1295) via an anonymous, self-report survey. All individuals whose sex assigned at birth did not match their current gender identity were categorized as transgender/gender diverse; this was possible to determine, as the survey asked about sex assigned at birth and gender in separate questions. Unfortunately, n = 57 transgender/gender diverse non-autistic participants were excluded from these analyses a priori, due to low power. Unadjusted and adjusted binomial logistic regression models with FDR correction were employed to assess healthcare experiences and rates of co-occurring mental and physical health conditions. RESULTS: Both transgender/gender diverse and cisgender autistic adults had higher rates of all health conditions (including conditions that are formally diagnosed, suspected, or recommended for assessment), compared to cisgender non-autistic adults. Transgender/gender diverse autistic adults were 2.3 times more likely to report a physical health condition, 10.9 times more likely to report a mental health condition, and 5.8 times more likely to report self-harm than cisgender non-autistic adults. Both autistic groups also reported significantly poorer healthcare experiences across 50/51 items. LIMITATIONS: These data were not originally collected to understand the experiences of transgender/gender diverse individuals. In addition, our recruitment strategies, use of a convenience sampling method, and the use of a self-report survey limit the generalizability of the study. As our sample was biased towards white individuals, UK residents, relatively highly educated individuals, those assigned female at birth, and those who currently identify as female, our findings may be less applicable to individuals of differing demographics. Finally, the present study does not include information on the experiences of transgender/gender diverse non-autistic people. CONCLUSIONS: Autistic people have poorer self-reported health and healthcare; however, being gender diverse is associated with further risk for certain adverse experiences and outcomes. Future research on the health and healthcare experiences of transgender/gender diverse autistic people is urgently needed. In particular, forthcoming studies in this area should aim to recruit large-scale and representative studies and should compare the experiences of transgender/gender diverse autistic people to those of transgender/gender diverse non-autistic people. Greater recognition of challenges and reasonable adjustments are essential for people with marginalized, intersectional identities in clinical practice. En ligne : https://dx.doi.org/10.1186/s13229-024-00634-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Autistic and transgender/gender diverse people's experiences of health and healthcare [Texte imprimé et/ou numérique] / Elizabeth WEIR, Auteur ; Lily WRIGHT, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur . - 4. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 4 Mots-clés : Humans  Male  Female  Transgender Persons/psychology  Adult  Autistic Disorder/psychology/epidemiology  Middle Aged  Young Adult  Delivery of Health Care  Adolescent  Surveys and Questionnaires  Autism  Healthcare  Healthcare quality  Mental health  Physical health  Self-harm  Transgender/gender diverse  provided by the Psychology Research Ethics Committee of the University of  Cambridge (PRE.2019.049). Competing interests: Prof. Sir Simon Baron-Cohen was a  founding Co-Editor-in-Chief of Molecular Autism. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals, respectively. Despite this, there is a paucity of studies on the healthcare experiences and health outcomes of transgender/gender diverse autistic individuals. METHODS: We compared the healthcare experiences and health outcomes of cisgender autistic (n = 1094), transgender/gender diverse autistic (n = 174), and cisgender non-autistic adults (n = 1295) via an anonymous, self-report survey. All individuals whose sex assigned at birth did not match their current gender identity were categorized as transgender/gender diverse; this was possible to determine, as the survey asked about sex assigned at birth and gender in separate questions. Unfortunately, n = 57 transgender/gender diverse non-autistic participants were excluded from these analyses a priori, due to low power. Unadjusted and adjusted binomial logistic regression models with FDR correction were employed to assess healthcare experiences and rates of co-occurring mental and physical health conditions. RESULTS: Both transgender/gender diverse and cisgender autistic adults had higher rates of all health conditions (including conditions that are formally diagnosed, suspected, or recommended for assessment), compared to cisgender non-autistic adults. Transgender/gender diverse autistic adults were 2.3 times more likely to report a physical health condition, 10.9 times more likely to report a mental health condition, and 5.8 times more likely to report self-harm than cisgender non-autistic adults. Both autistic groups also reported significantly poorer healthcare experiences across 50/51 items. LIMITATIONS: These data were not originally collected to understand the experiences of transgender/gender diverse individuals. In addition, our recruitment strategies, use of a convenience sampling method, and the use of a self-report survey limit the generalizability of the study. As our sample was biased towards white individuals, UK residents, relatively highly educated individuals, those assigned female at birth, and those who currently identify as female, our findings may be less applicable to individuals of differing demographics. Finally, the present study does not include information on the experiences of transgender/gender diverse non-autistic people. CONCLUSIONS: Autistic people have poorer self-reported health and healthcare; however, being gender diverse is associated with further risk for certain adverse experiences and outcomes. Future research on the health and healthcare experiences of transgender/gender diverse autistic people is urgently needed. In particular, forthcoming studies in this area should aim to recruit large-scale and representative studies and should compare the experiences of transgender/gender diverse autistic people to those of transgender/gender diverse non-autistic people. Greater recognition of challenges and reasonable adjustments are essential for people with marginalized, intersectional identities in clinical practice. En ligne : https://dx.doi.org/10.1186/s13229-024-00634-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes / Mohammed UDDIN ; Joris A VELTMAN ; Sara WELLS ; Christopher MORRIS ; Marc WOODBURY-SMITH in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 5 Titre : Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes Type de document : Texte imprimé et/ou numérique Auteurs : Mohammed UDDIN, Auteur ; Joris A VELTMAN, Auteur ; Sara WELLS, Auteur ; Christopher MORRIS, Auteur ; Marc WOODBURY-SMITH, Auteur Article en page(s) : 5 Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder/genetics  Humans  Macaca mulatta/genetics  Evolution, Molecular  Genome  Phenotype  Genetic Predisposition to Disease  Primates/genetics  Autism spectrum disorder  Gsea  Genetic constraint  Primate model  Whole genome sequencing  mGAP database protocols adhered to the NIH and the Guide for Use and Care of  Laboratory Animals and were approved by the Oregon Health & Sciences University  Animal Utilization and Care Committee [22]. Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Significant progress has been made in elucidating the genetic underpinnings of Autism Spectrum Disorder (ASD). However, there are still significant gaps in our understanding of the link between genomics, neurobiology and clinical phenotype in scientific discovery. New models are therefore needed to address these gaps. Rhesus macaques (Macaca mulatta) have been extensively used for preclinical neurobiological research because of remarkable similarities to humans across biology and behaviour that cannot be captured by other experimental animals. METHODS: We used the macaque Genotype and Phenotype (mGAP) resource consisting of 2,054 macaque genomes to examine patterns of evolutionary constraint in known human neurodevelopmental genes. Residual variation intolerance scores (RVIS) were calculated for all annotated autosomal genes (N = 18,168) and Gene Set Enrichment Analysis (GSEA) was used to examine patterns of constraint across ASD genes and related neurodevelopmental genes. RESULTS: We demonstrated that patterns of constraint across autosomal genes are correlated in humans and macaques, and that ASD-associated genes exhibit significant constraint in macaques (p = 9.4?*?10(-?27)). Among macaques, many key ASD-implicated genes were observed to harbour predicted damaging mutations. A small number of key ASD-implicated genes that are highly intolerant to mutation in humans, however, showed no evidence of similar intolerance in macaques (CACNA1D, MBD5, AUTS2 and NRXN1). Constraint was also observed across genes associated with intellectual disability (p = 1.1?*?10(-?46)), epilepsy (p = 2.1?*?10(-?33)) and schizophrenia (p = 4.2?*?10(-?45)), and for an overlapping neurodevelopmental gene set (p = 4.0?*?10(-?10)). LIMITATIONS: The lack of behavioural phenotypes among the macaques whose genotypes were studied means that we are unable to further investigate whether genetic variants have similar phenotypic consequences among nonhuman primates. CONCLUSION: The presence of pathological mutations in ASD genes among macaques, along with evidence of similar genetic constraints to those in humans, provides a strong rationale for further investigation of genotype-phenotype relationships in macaques. This highlights the importance of developing primate models of ASD to elucidate the neurobiological underpinnings and advance approaches for precision medicine and therapeutic interventions. En ligne : https://dx.doi.org/10.1186/s13229-024-00633-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes [Texte imprimé et/ou numérique] / Mohammed UDDIN, Auteur ; Joris A VELTMAN, Auteur ; Sara WELLS, Auteur ; Christopher MORRIS, Auteur ; Marc WOODBURY-SMITH, Auteur . - 5. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 5 Mots-clés : Animals  Autism Spectrum Disorder/genetics  Humans  Macaca mulatta/genetics  Evolution, Molecular  Genome  Phenotype  Genetic Predisposition to Disease  Primates/genetics  Autism spectrum disorder  Gsea  Genetic constraint  Primate model  Whole genome sequencing  mGAP database protocols adhered to the NIH and the Guide for Use and Care of  Laboratory Animals and were approved by the Oregon Health & Sciences University  Animal Utilization and Care Committee [22]. Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Significant progress has been made in elucidating the genetic underpinnings of Autism Spectrum Disorder (ASD). However, there are still significant gaps in our understanding of the link between genomics, neurobiology and clinical phenotype in scientific discovery. New models are therefore needed to address these gaps. Rhesus macaques (Macaca mulatta) have been extensively used for preclinical neurobiological research because of remarkable similarities to humans across biology and behaviour that cannot be captured by other experimental animals. METHODS: We used the macaque Genotype and Phenotype (mGAP) resource consisting of 2,054 macaque genomes to examine patterns of evolutionary constraint in known human neurodevelopmental genes. Residual variation intolerance scores (RVIS) were calculated for all annotated autosomal genes (N = 18,168) and Gene Set Enrichment Analysis (GSEA) was used to examine patterns of constraint across ASD genes and related neurodevelopmental genes. RESULTS: We demonstrated that patterns of constraint across autosomal genes are correlated in humans and macaques, and that ASD-associated genes exhibit significant constraint in macaques (p = 9.4?*?10(-?27)). Among macaques, many key ASD-implicated genes were observed to harbour predicted damaging mutations. A small number of key ASD-implicated genes that are highly intolerant to mutation in humans, however, showed no evidence of similar intolerance in macaques (CACNA1D, MBD5, AUTS2 and NRXN1). Constraint was also observed across genes associated with intellectual disability (p = 1.1?*?10(-?46)), epilepsy (p = 2.1?*?10(-?33)) and schizophrenia (p = 4.2?*?10(-?45)), and for an overlapping neurodevelopmental gene set (p = 4.0?*?10(-?10)). LIMITATIONS: The lack of behavioural phenotypes among the macaques whose genotypes were studied means that we are unable to further investigate whether genetic variants have similar phenotypic consequences among nonhuman primates. CONCLUSION: The presence of pathological mutations in ASD genes among macaques, along with evidence of similar genetic constraints to those in humans, provides a strong rationale for further investigation of genotype-phenotype relationships in macaques. This highlights the importance of developing primate models of ASD to elucidate the neurobiological underpinnings and advance approaches for precision medicine and therapeutic interventions. En ligne : https://dx.doi.org/10.1186/s13229-024-00633-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism / Megan BANCHIK ; Tawny TSANG ; Nana J OKADA ; Rebecca ALTSHULER ; Nicole MCDONALD ; Susan Y BOOKHEIMER ; Shafali S JESTE ; Shulamite GREEN ; Mirella DAPRETTO in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 6 Titre : Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism Type de document : Texte imprimé et/ou numérique Auteurs : Megan BANCHIK, Auteur ; Tawny TSANG, Auteur ; Nana J OKADA, Auteur ; Rebecca ALTSHULER, Auteur ; Nicole MCDONALD, Auteur ; Susan Y BOOKHEIMER, Auteur ; Shafali S JESTE, Auteur ; Shulamite GREEN, Auteur ; Mirella DAPRETTO, Auteur Article en page(s) : 6 Langues : Anglais (eng) Mots-clés : Humans  Infant  Male  Magnetic Resonance Imaging  Female  Language  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology  Brain Mapping  Speech  Autism  Language  Native language  fMRI  obtained from all participants' caregivers and/or legal guardians. All study  protocols were approved by the UCLA Institutional Review Board. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis - who are at higher likelihood for developing ASD - a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize. LIMITATIONS: The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments. En ligne : https://dx.doi.org/10.1186/s13229-025-00640-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism [Texte imprimé et/ou numérique] / Megan BANCHIK, Auteur ; Tawny TSANG, Auteur ; Nana J OKADA, Auteur ; Rebecca ALTSHULER, Auteur ; Nicole MCDONALD, Auteur ; Susan Y BOOKHEIMER, Auteur ; Shafali S JESTE, Auteur ; Shulamite GREEN, Auteur ; Mirella DAPRETTO, Auteur . - 6. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 6 Mots-clés : Humans  Infant  Male  Magnetic Resonance Imaging  Female  Language  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology  Brain Mapping  Speech  Autism  Language  Native language  fMRI  obtained from all participants' caregivers and/or legal guardians. All study  protocols were approved by the UCLA Institutional Review Board. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis - who are at higher likelihood for developing ASD - a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize. LIMITATIONS: The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments. En ligne : https://dx.doi.org/10.1186/s13229-025-00640-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

"What does 'often' even mean?" Revising and validating the Comprehensive Autistic Trait Inventory in partnership with autistic people / Outi TUOMAINEN ; Nathan WEBER ; Frank FAHR ; Bodie KARLEK ; Marie MAROSKE ; Meike MISIA ; Nathan CARUANA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 7 Titre : "What does 'often' even mean?" Revising and validating the Comprehensive Autistic Trait Inventory in partnership with autistic people Type de document : Texte imprimé et/ou numérique Auteurs : Outi TUOMAINEN, Auteur ; Nathan WEBER, Auteur ; Frank FAHR, Auteur ; Bodie KARLEK, Auteur ; Marie MAROSKE, Auteur ; Meike MISIA, Auteur ; Nathan CARUANA, Auteur Article en page(s) : 7 Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Autistic Disorder/diagnosis/psychology  Adult  Self Report  Adolescent  Young Adult  Middle Aged  Reproducibility of Results  Psychometrics  Autism spectrum  Autistic traits  Gender disparity  Neurodiversity  Participatory research  Psychological testing  Psychometric validation Index. décimale : PER Périodiques Résumé : BACKGROUND: In this study, we revised the comprehensive autistic trait inventory (CATI)-a self-report inventory of autistic traits, in collaboration with autistic people and provided preliminary evidence for its validity as a self-report measure of autistic traits in the general population. An established strength of the CATI is its ability to capture female autistic traits. Our project aimed to extend this further, to increase the inventory's accessibility, and to minimise stigma induced by deficit-based representations of autistic experience. METHODS: Together with 22 individuals from the autism and autistic communities, we created the Revised Comprehensive Autistic Trait Inventory (CATI-R). Revisions included rewording items to increase clarity or reduce stigma and expanding items to capture diverse autistic experiences. We also present a series of guidelines for developing self-report inventories of subclinical neurodivergent traits. We validated the CATI-R within a large sample (n = 1439), comprising people with a self-reported autism diagnosis (n = 331), people who self-identified as autistic (n = 44), and non-autistic participants (n = 1046). RESULTS: We successfully validated a revision of the CATI. A confirmatory factor analysis supported the six-subscale structure (two-factor bifactors model: Chi-squared = 2705.73, p < .001, RMSEA = .04, SRMR = .03, CFI = .95, TLI = .94). Spearman's rank correlations showed positive relationships between all subscales (all rs >  .56, ps < .001). Convergent validity was demonstrated by significant correlations between the CATI-R and two contemporary inventories of autistic traits: the AQ (rho = .86, p < .01) and BAPQ (rho = .82, p < .01). Finally, a measurement invariance analysis indicated that total-scale scores can be compared across genders. LIMITATIONS: Our study presents only initial evidence for the validity of the CATI-R that should be enriched with further analyses and types of data, including a larger number of participants who do not identify as male or female. CONCLUSIONS: This project provides a revised trait inventory that resonates with actual autistic experience, along with guidelines for creating self-report measures that are sensitive, accessible, and non-stigmatising. En ligne : https://dx.doi.org/10.1186/s13229-025-00643-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] "What does 'often' even mean?" Revising and validating the Comprehensive Autistic Trait Inventory in partnership with autistic people [Texte imprimé et/ou numérique] / Outi TUOMAINEN, Auteur ; Nathan WEBER, Auteur ; Frank FAHR, Auteur ; Bodie KARLEK, Auteur ; Marie MAROSKE, Auteur ; Meike MISIA, Auteur ; Nathan CARUANA, Auteur . - 7. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 7 Mots-clés : Humans  Female  Male  Autistic Disorder/diagnosis/psychology  Adult  Self Report  Adolescent  Young Adult  Middle Aged  Reproducibility of Results  Psychometrics  Autism spectrum  Autistic traits  Gender disparity  Neurodiversity  Participatory research  Psychological testing  Psychometric validation Index. décimale : PER Périodiques Résumé : BACKGROUND: In this study, we revised the comprehensive autistic trait inventory (CATI)-a self-report inventory of autistic traits, in collaboration with autistic people and provided preliminary evidence for its validity as a self-report measure of autistic traits in the general population. An established strength of the CATI is its ability to capture female autistic traits. Our project aimed to extend this further, to increase the inventory's accessibility, and to minimise stigma induced by deficit-based representations of autistic experience. METHODS: Together with 22 individuals from the autism and autistic communities, we created the Revised Comprehensive Autistic Trait Inventory (CATI-R). Revisions included rewording items to increase clarity or reduce stigma and expanding items to capture diverse autistic experiences. We also present a series of guidelines for developing self-report inventories of subclinical neurodivergent traits. We validated the CATI-R within a large sample (n = 1439), comprising people with a self-reported autism diagnosis (n = 331), people who self-identified as autistic (n = 44), and non-autistic participants (n = 1046). RESULTS: We successfully validated a revision of the CATI. A confirmatory factor analysis supported the six-subscale structure (two-factor bifactors model: Chi-squared = 2705.73, p < .001, RMSEA = .04, SRMR = .03, CFI = .95, TLI = .94). Spearman's rank correlations showed positive relationships between all subscales (all rs >  .56, ps < .001). Convergent validity was demonstrated by significant correlations between the CATI-R and two contemporary inventories of autistic traits: the AQ (rho = .86, p < .01) and BAPQ (rho = .82, p < .01). Finally, a measurement invariance analysis indicated that total-scale scores can be compared across genders. LIMITATIONS: Our study presents only initial evidence for the validity of the CATI-R that should be enriched with further analyses and types of data, including a larger number of participants who do not identify as male or female. CONCLUSIONS: This project provides a revised trait inventory that resonates with actual autistic experience, along with guidelines for creating self-report measures that are sensitive, accessible, and non-stigmatising. En ligne : https://dx.doi.org/10.1186/s13229-025-00643-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Age-related changes in brain signal variability in autism spectrum disorder / Nicholas KATHREIN ; Elijah GRAGAS ; Lauren KUPIS ; Lucina Q UDDIN ; Jason S NOMI in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 8 Titre : Age-related changes in brain signal variability in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nicholas KATHREIN, Auteur ; Elijah GRAGAS, Auteur ; Lauren KUPIS, Auteur ; Lucina Q UDDIN, Auteur ; Jason S NOMI, Auteur Article en page(s) : 8 Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Male  Adult  Female  Adolescent  Child  Magnetic Resonance Imaging  Middle Aged  Young Adult  Child, Preschool  Cross-Sectional Studies  Age Factors  Aging  Brain Mapping  Asd  Age  Brain-behavior relationships  Mean square successive difference  Resting-state fMRI  contributions were based on studies approved by the local Institutional Review  Boards, and all have approved both the initial data collection and the sharing of  fully anonymized data (removing face information from structural images and all  18 Health Insurance Portability and Accountability (HIPAA)-protected health  information identifiers). The written informed consent was obtained from all  subjects. Detailed information on ethical statements for ABIDE can be found at  http://fcon_1000.projects.nitrc.org/indi/abide/. Consent for publication: Not  applicable. Competing interests: The authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Brain signal variability (BSV) is an important understudied aspect of brain function linked to cognitive flexibility and adaptive behavior. Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and restricted and repetitive behaviors (RRBs). While atypical brain function has been identified in individuals with ASD using fMRI task-activation and functional connectivity approaches, little is known about age-related relationships with resting-state BSV and repetitive behaviors in ASD. METHODS: We conducted a cross-sectional examination of resting-state BSV and its relationship with age and RRBs in a cohort of individuals with Autism Brain Imaging Data Exchange (n = 351) and typically developing (TD) individuals (n = 402) aged 5-50 years obtained from the Autism Brain Imaging Data Exchange. RRBs were assessed using the Autism Diagnostic Interview-Revised (ADI-RRB) scale. BSV was quantified using the root-mean-square successive difference (rMSSD) of the resting-state fMRI time series. We examined categorical group differences in rMSSD between ASD and TD groups, controlling for both linear and quadratic age. To identify dimensional relationships between age, group, and rMSSD, we utilized interaction regressors for group x age and group x quadratic age. Within a subset of individuals with ASD (269 subjects), we explored the relationship between rMSSD and ADI-RRB scores, both with and without age considerations. The relationship between rMSSD and ADI-RRB scores was further analyzed while accounting for linear and quadratic age. Additionally, we investigated the relationship between BSV, age, and ADI-RRB scores using interaction regressors for age x RRB and quadratic age x RRB. RESULTS: When controlling for linear age effects, we observed significant group differences between individuals with ASD and TD individuals in the default-mode network (DMN) and visual network, with decreased BSV in ASD. Similarly, controlling for quadratic age effects revealed significant group differences in the DMN and visual network. In both cases, individuals with ASD showed decreased BSV compared with TD individuals in these brain regions. The group * age interaction demonstrated significant group differences in the DMN, and visual network brain areas, indicating that rMSSD was greater in older individuals compared with younger individuals in the ASD group, while rMSSD was greater in younger individuals compared with older individuals in the TD group. The group * quadratic age interaction showed significant differences in the brain regions included in DMN, with an inverted U-shaped rMSSD-age relationship in ASD (higher rMSSD in younger individuals that slightly increased into middle age before decreasing) and a U-shaped rMSSD-age relationship in TD (higher rMSSD in younger and older individuals compared with middle-aged individuals). When controlling for linear and quadratic age effects, we found a significant positive association between rMSSD and ADI-RRB scores in brain regions within the DMN, salience, and visual network. While no significant results were observed for the linear age * RRB interaction, a significant association between quadratic age and ADI-RRB scores emerged in the DMN, dorsal attention network, and sensorimotor network. Individuals with high ADI-RRB scores exhibited an inverted U-shaped relationship between rMSSD and age, with lower rMSSD levels observed in both younger and older individuals, and higher rMSSD in middle-aged individuals. Those with mid-range ADI-RRB scores displayed a weak inverted U-shaped rMSSD-age association. In contrast, individuals with low ADI-RRB scores showed a U-shaped rMSSD-age association, with higher rMSSD levels in younger and older individuals, but a lower rMSSD in middle-aged individuals. CONCLUSION: These findings highlight age-related atypical BSV patterns in ASD and their association with repetitive behaviors, contributing to the growing literature on understanding alterations in functional brain maturation in ASD. En ligne : https://dx.doi.org/10.1186/s13229-024-00631-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Age-related changes in brain signal variability in autism spectrum disorder [Texte imprimé et/ou numérique] / Nicholas KATHREIN, Auteur ; Elijah GRAGAS, Auteur ; Lauren KUPIS, Auteur ; Lucina Q UDDIN, Auteur ; Jason S NOMI, Auteur . - 8. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 8 Mots-clés : Humans  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Male  Adult  Female  Adolescent  Child  Magnetic Resonance Imaging  Middle Aged  Young Adult  Child, Preschool  Cross-Sectional Studies  Age Factors  Aging  Brain Mapping  Asd  Age  Brain-behavior relationships  Mean square successive difference  Resting-state fMRI  contributions were based on studies approved by the local Institutional Review  Boards, and all have approved both the initial data collection and the sharing of  fully anonymized data (removing face information from structural images and all  18 Health Insurance Portability and Accountability (HIPAA)-protected health  information identifiers). The written informed consent was obtained from all  subjects. Detailed information on ethical statements for ABIDE can be found at  http://fcon_1000.projects.nitrc.org/indi/abide/. Consent for publication: Not  applicable. Competing interests: The authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Brain signal variability (BSV) is an important understudied aspect of brain function linked to cognitive flexibility and adaptive behavior. Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and restricted and repetitive behaviors (RRBs). While atypical brain function has been identified in individuals with ASD using fMRI task-activation and functional connectivity approaches, little is known about age-related relationships with resting-state BSV and repetitive behaviors in ASD. METHODS: We conducted a cross-sectional examination of resting-state BSV and its relationship with age and RRBs in a cohort of individuals with Autism Brain Imaging Data Exchange (n = 351) and typically developing (TD) individuals (n = 402) aged 5-50 years obtained from the Autism Brain Imaging Data Exchange. RRBs were assessed using the Autism Diagnostic Interview-Revised (ADI-RRB) scale. BSV was quantified using the root-mean-square successive difference (rMSSD) of the resting-state fMRI time series. We examined categorical group differences in rMSSD between ASD and TD groups, controlling for both linear and quadratic age. To identify dimensional relationships between age, group, and rMSSD, we utilized interaction regressors for group x age and group x quadratic age. Within a subset of individuals with ASD (269 subjects), we explored the relationship between rMSSD and ADI-RRB scores, both with and without age considerations. The relationship between rMSSD and ADI-RRB scores was further analyzed while accounting for linear and quadratic age. Additionally, we investigated the relationship between BSV, age, and ADI-RRB scores using interaction regressors for age x RRB and quadratic age x RRB. RESULTS: When controlling for linear age effects, we observed significant group differences between individuals with ASD and TD individuals in the default-mode network (DMN) and visual network, with decreased BSV in ASD. Similarly, controlling for quadratic age effects revealed significant group differences in the DMN and visual network. In both cases, individuals with ASD showed decreased BSV compared with TD individuals in these brain regions. The group * age interaction demonstrated significant group differences in the DMN, and visual network brain areas, indicating that rMSSD was greater in older individuals compared with younger individuals in the ASD group, while rMSSD was greater in younger individuals compared with older individuals in the TD group. The group * quadratic age interaction showed significant differences in the brain regions included in DMN, with an inverted U-shaped rMSSD-age relationship in ASD (higher rMSSD in younger individuals that slightly increased into middle age before decreasing) and a U-shaped rMSSD-age relationship in TD (higher rMSSD in younger and older individuals compared with middle-aged individuals). When controlling for linear and quadratic age effects, we found a significant positive association between rMSSD and ADI-RRB scores in brain regions within the DMN, salience, and visual network. While no significant results were observed for the linear age * RRB interaction, a significant association between quadratic age and ADI-RRB scores emerged in the DMN, dorsal attention network, and sensorimotor network. Individuals with high ADI-RRB scores exhibited an inverted U-shaped relationship between rMSSD and age, with lower rMSSD levels observed in both younger and older individuals, and higher rMSSD in middle-aged individuals. Those with mid-range ADI-RRB scores displayed a weak inverted U-shaped rMSSD-age association. In contrast, individuals with low ADI-RRB scores showed a U-shaped rMSSD-age association, with higher rMSSD levels in younger and older individuals, but a lower rMSSD in middle-aged individuals. CONCLUSION: These findings highlight age-related atypical BSV patterns in ASD and their association with repetitive behaviors, contributing to the growing literature on understanding alterations in functional brain maturation in ASD. En ligne : https://dx.doi.org/10.1186/s13229-024-00631-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Understanding depression in autism: the role of subjective perception and anterior cingulate cortex volume / Sarah BANKER ; Jadyn TRAYVICK ; Sarah BARKLEY ; Arabella W PETERS ; Abigaël THINAKARAN ; Christopher MCLAUGHLIN ; Xiaosi GU ; Daniela SCHILLER ; Jennifer FOSS-FEIG in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 9 Titre : Understanding depression in autism: the role of subjective perception and anterior cingulate cortex volume Type de document : Texte imprimé et/ou numérique Auteurs : Sarah BANKER, Auteur ; Jadyn TRAYVICK, Auteur ; Sarah BARKLEY, Auteur ; Arabella W PETERS, Auteur ; Abigaël THINAKARAN, Auteur ; Christopher MCLAUGHLIN, Auteur ; Xiaosi GU, Auteur ; Daniela SCHILLER, Auteur ; Jennifer FOSS-FEIG, Auteur Article en page(s) : 9 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Gyrus Cinguli/diagnostic imaging  Depression/diagnostic imaging  Adult  Young Adult  Autism Spectrum Disorder/diagnostic imaging/psychology  Perception  Magnetic Resonance Imaging  Autistic Disorder/psychology/diagnostic imaging  Adolescent  Organ Size  Social Interaction  Amygdala/diagnostic imaging/pathology/physiopathology  Affiliation  Amygdala  Anterior cingulate cortex  Autism spectrum disorder  Depression  Self-awareness  Social impairments  Medicine at Mount Sinai?s Institutional Review Board approved the study protocol  (#16-01089 for onsite neuroimaging & #22-00171 for online replication sample  presented in Supplementary Materials). All participants gave written informed  consent and received compensation for their participation. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The prevalence of depression is elevated in individuals with autism spectrum disorder (ASD) compared to the general population, yet the reasons for this disparity remain unclear. While social deficits central to ASD may contribute to depression, it is uncertain whether social interaction behavior themselves or individuals' introspection about their social behaviors are more impactful. Although the anterior cingulate cortex (ACC) is frequently implicated in ASD, depression, and social functioning, it is unknown if it explains differences between ASD adults with and without co-occurring depression. METHODS: The present study contrasted observed vs. subjective perception of autism symptoms and social interaction assessed with both standardized measures and a lab task, in 65 sex-balanced (52.24% male) autistic young adults. We also quantified ACC and amygdala volume with 7-Tesla structural neuroimaging to examine correlations with self-reported depression and social functioning. RESULTS: We found that ASD individuals with self-reported depression exhibited differences in subjective evaluations including heightened self-awareness of ASD symptoms, lower subjective satisfaction with social relations, and less perceived affiliation during the social interaction task, yet no differences in corresponding observed measures, compared to those without depression. Larger ACC volume was related to depression, greater self-awareness of ASD symptoms, and worse subjective satisfaction with social relations. In contrast, amygdala volume, despite its association with clinician-rated ASD symptoms, was not related to depression. LIMITATIONS: Due to the cross-sectional nature of our study, we cannot determine the directionality of the observed relationships. Additionally, we included only individuals with an IQ over 60 to ensure participants could complete the social task. We also utilized self-reported depression indices instead of clinically diagnosed depression, which may limit the comprehensiveness of the findings. CONCLUSIONS: Our approach highlights the unique role of subjective perception of autism symptoms and social interactions, beyond the observable manifestation of social impairment in ASD, in contributing to self-reported depression, with the ACC playing a crucial role. These findings imply possible heterogeneity of ASD concerning co-occurring depression. Using neuroimaging, we were able to demarcate depressive phenotypes co-occurring alongside autistic phenotypes. En ligne : https://dx.doi.org/10.1186/s13229-025-00638-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Understanding depression in autism: the role of subjective perception and anterior cingulate cortex volume [Texte imprimé et/ou numérique] / Sarah BANKER, Auteur ; Jadyn TRAYVICK, Auteur ; Sarah BARKLEY, Auteur ; Arabella W PETERS, Auteur ; Abigaël THINAKARAN, Auteur ; Christopher MCLAUGHLIN, Auteur ; Xiaosi GU, Auteur ; Daniela SCHILLER, Auteur ; Jennifer FOSS-FEIG, Auteur . - 9. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 9 Mots-clés : Humans  Male  Female  Gyrus Cinguli/diagnostic imaging  Depression/diagnostic imaging  Adult  Young Adult  Autism Spectrum Disorder/diagnostic imaging/psychology  Perception  Magnetic Resonance Imaging  Autistic Disorder/psychology/diagnostic imaging  Adolescent  Organ Size  Social Interaction  Amygdala/diagnostic imaging/pathology/physiopathology  Affiliation  Amygdala  Anterior cingulate cortex  Autism spectrum disorder  Depression  Self-awareness  Social impairments  Medicine at Mount Sinai?s Institutional Review Board approved the study protocol  (#16-01089 for onsite neuroimaging & #22-00171 for online replication sample  presented in Supplementary Materials). All participants gave written informed  consent and received compensation for their participation. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The prevalence of depression is elevated in individuals with autism spectrum disorder (ASD) compared to the general population, yet the reasons for this disparity remain unclear. While social deficits central to ASD may contribute to depression, it is uncertain whether social interaction behavior themselves or individuals' introspection about their social behaviors are more impactful. Although the anterior cingulate cortex (ACC) is frequently implicated in ASD, depression, and social functioning, it is unknown if it explains differences between ASD adults with and without co-occurring depression. METHODS: The present study contrasted observed vs. subjective perception of autism symptoms and social interaction assessed with both standardized measures and a lab task, in 65 sex-balanced (52.24% male) autistic young adults. We also quantified ACC and amygdala volume with 7-Tesla structural neuroimaging to examine correlations with self-reported depression and social functioning. RESULTS: We found that ASD individuals with self-reported depression exhibited differences in subjective evaluations including heightened self-awareness of ASD symptoms, lower subjective satisfaction with social relations, and less perceived affiliation during the social interaction task, yet no differences in corresponding observed measures, compared to those without depression. Larger ACC volume was related to depression, greater self-awareness of ASD symptoms, and worse subjective satisfaction with social relations. In contrast, amygdala volume, despite its association with clinician-rated ASD symptoms, was not related to depression. LIMITATIONS: Due to the cross-sectional nature of our study, we cannot determine the directionality of the observed relationships. Additionally, we included only individuals with an IQ over 60 to ensure participants could complete the social task. We also utilized self-reported depression indices instead of clinically diagnosed depression, which may limit the comprehensiveness of the findings. CONCLUSIONS: Our approach highlights the unique role of subjective perception of autism symptoms and social interactions, beyond the observable manifestation of social impairment in ASD, in contributing to self-reported depression, with the ACC playing a crucial role. These findings imply possible heterogeneity of ASD concerning co-occurring depression. Using neuroimaging, we were able to demarcate depressive phenotypes co-occurring alongside autistic phenotypes. En ligne : https://dx.doi.org/10.1186/s13229-025-00638-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech / Marion LESIEUR-SEBELLIN ; Karine SIQUIER-PERNET ; Geoffroy DELPLANCQ ; Marlene RIO ; Mélanie PARISOT ; Patrick NITSCHKÉ ; Cristina RODRIGUEZ-FONTENLA ; Alison BODINEAU ; Lucie NARCY ; Emilie SCHLUMBERGER ; Vincent CANTAGREL ; Valérie MALAN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 10 Titre : Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech Type de document : Texte imprimé et/ou numérique Auteurs : Marion LESIEUR-SEBELLIN, Auteur ; Karine SIQUIER-PERNET, Auteur ; Geoffroy DELPLANCQ, Auteur ; Marlene RIO, Auteur ; Mélanie PARISOT, Auteur ; Patrick NITSCHKÉ, Auteur ; Cristina RODRIGUEZ-FONTENLA, Auteur ; Alison BODINEAU, Auteur ; Lucie NARCY, Auteur ; Emilie SCHLUMBERGER, Auteur ; Vincent CANTAGREL, Auteur ; Valérie MALAN, Auteur Article en page(s) : 10 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Child  Language Development Disorders/genetics  Apraxias/genetics  Child, Preschool  Intellectual Disability/genetics  DNA Copy Number Variations  Adolescent  Genetic Predisposition to Disease  15q13.3 locus  16p11.2 locus  Autism  Developmental language disorder  Intellectual disability  Neurodevelopmental disorders  ZNF292  use the data for research and publication purposes. Competing interests: The  authors declare no competing interests. Ethics approval and consent to  participate: Written informed consent was obtained from all individuals. All  studies were carried out in accordance with the declaration of Helsinki and were  approved by a national ethics committee (CPP Ile de France, RIPH2G reference DI  24.01180.000212, N°2024-A00519-38, CPP reference 29-2024, promoter reference  C23-79  promoter: Inserm). ClinicalTrials.gov Identifier: NCT06660108. Index. décimale : PER Périodiques Résumé : BACKGROUND: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability (ID). The clinical heterogeneity of language disorders, the frequent presence of comorbidities, and the inconsistent terminology used over the years have impeded both research and clinical practice. Identifying sub-groups of children (i.e. DLD cases without childhood apraxia of speech (CAS)) with language difficulties is essential for elucidating the underlying genetic causes of this condition. DLD presents along a spectrum of severity, ranging from mild speech delays to profound disturbances in oral language structure in otherwise typically intelligent children. The prevalence of DLD is ~?7-8% or 2% if severe forms are considered. This study aims to investigate a homogeneous cohort of DLD patients, excluding cases of ASD, ID or CAS, using multiple genomic approaches to better define the molecular basis of the disorder. METHODS: Fifteen families, including 27 children with severe DLD, were enrolled. The majority of cases (n = 24) were included in multiplex families while three cases were sporadic. This resulted in a cohort of 59 individuals for whom chromosomal microarray analysis and exome or genome sequencing were performed. RESULTS: We identified copy number variants (CNVs) predisposing to neurodevelopmental disorders with incomplete penetrance and variable expressivity in two families. These CNVs (i.e., 15q13.3 deletion and proximal 16p11.2 duplication) are interpreted as pathogenic. In one sporadic case, a de novo pathogenic variant in the ZNF292 gene, known to be associated with ID, was detected, broadening the spectrum of this syndrome. LIMITATIONS: The strict diagnostic criteria applied by our multidisciplinary team, including speech-language physicians, neuropsychologists, and paediatric neurologists, resulted in a relatively small sample size, which limit the strength of our findings. CONCLUSION: These findings highlight a common genetic architecture between DLD, ASD and ID, and underline the need for further investigation into overlapping neurodevelopmental pathways. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT06660108. En ligne : https://dx.doi.org/10.1186/s13229-025-00642-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech [Texte imprimé et/ou numérique] / Marion LESIEUR-SEBELLIN, Auteur ; Karine SIQUIER-PERNET, Auteur ; Geoffroy DELPLANCQ, Auteur ; Marlene RIO, Auteur ; Mélanie PARISOT, Auteur ; Patrick NITSCHKÉ, Auteur ; Cristina RODRIGUEZ-FONTENLA, Auteur ; Alison BODINEAU, Auteur ; Lucie NARCY, Auteur ; Emilie SCHLUMBERGER, Auteur ; Vincent CANTAGREL, Auteur ; Valérie MALAN, Auteur . - 10. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 10 Mots-clés : Humans  Male  Female  Child  Language Development Disorders/genetics  Apraxias/genetics  Child, Preschool  Intellectual Disability/genetics  DNA Copy Number Variations  Adolescent  Genetic Predisposition to Disease  15q13.3 locus  16p11.2 locus  Autism  Developmental language disorder  Intellectual disability  Neurodevelopmental disorders  ZNF292  use the data for research and publication purposes. Competing interests: The  authors declare no competing interests. Ethics approval and consent to  participate: Written informed consent was obtained from all individuals. All  studies were carried out in accordance with the declaration of Helsinki and were  approved by a national ethics committee (CPP Ile de France, RIPH2G reference DI  24.01180.000212, N°2024-A00519-38, CPP reference 29-2024, promoter reference  C23-79  promoter: Inserm). ClinicalTrials.gov Identifier: NCT06660108. Index. décimale : PER Périodiques Résumé : BACKGROUND: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability (ID). The clinical heterogeneity of language disorders, the frequent presence of comorbidities, and the inconsistent terminology used over the years have impeded both research and clinical practice. Identifying sub-groups of children (i.e. DLD cases without childhood apraxia of speech (CAS)) with language difficulties is essential for elucidating the underlying genetic causes of this condition. DLD presents along a spectrum of severity, ranging from mild speech delays to profound disturbances in oral language structure in otherwise typically intelligent children. The prevalence of DLD is ~?7-8% or 2% if severe forms are considered. This study aims to investigate a homogeneous cohort of DLD patients, excluding cases of ASD, ID or CAS, using multiple genomic approaches to better define the molecular basis of the disorder. METHODS: Fifteen families, including 27 children with severe DLD, were enrolled. The majority of cases (n = 24) were included in multiplex families while three cases were sporadic. This resulted in a cohort of 59 individuals for whom chromosomal microarray analysis and exome or genome sequencing were performed. RESULTS: We identified copy number variants (CNVs) predisposing to neurodevelopmental disorders with incomplete penetrance and variable expressivity in two families. These CNVs (i.e., 15q13.3 deletion and proximal 16p11.2 duplication) are interpreted as pathogenic. In one sporadic case, a de novo pathogenic variant in the ZNF292 gene, known to be associated with ID, was detected, broadening the spectrum of this syndrome. LIMITATIONS: The strict diagnostic criteria applied by our multidisciplinary team, including speech-language physicians, neuropsychologists, and paediatric neurologists, resulted in a relatively small sample size, which limit the strength of our findings. CONCLUSION: These findings highlight a common genetic architecture between DLD, ASD and ID, and underline the need for further investigation into overlapping neurodevelopmental pathways. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT06660108. En ligne : https://dx.doi.org/10.1186/s13229-025-00642-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Dynamic functional adaptations during touch observation in autism: connectivity strength is linked to attitudes towards social touch and social responsiveness / Haemy LEE MASSON in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 11 Titre : Dynamic functional adaptations during touch observation in autism: connectivity strength is linked to attitudes towards social touch and social responsiveness Type de document : Texte imprimé et/ou numérique Auteurs : Haemy LEE MASSON, Auteur Article en page(s) : 11 Langues : Anglais (eng) Mots-clés : Humans  Male  Autistic Disorder/physiopathology/psychology/diagnostic imaging  Adult  Magnetic Resonance Imaging  Touch  Young Adult  Brain/diagnostic imaging/physiopathology  Social Behavior  Social Interaction  Brain Mapping  Autism  Embodied simulation  Functional connectivity  Generalized psychophysiological interaction  Independent component analysis  Social perception  Social responsiveness  Social touch  Vicarious touch  provided written informed consent, and the Medical Ethical Committee of KU Leuven  approved the original study (S53768 and S59577). Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic adults experience differences in social interactions involving physical contact. Brain imaging studies suggest that these differences may be related to atypical brain responses to social-affective cues, affecting both the experience of receiving touch and observing it in others. However, it remains unclear whether these atypical responses are limited to specific brain regions or represent broader alterations in brain connectivity. The current study investigated how the functional network architecture is modulated during touch observation associated with autism and explored the extent to which changes in this architecture are associated with individual differences in social touch preferences and social responsiveness. METHODS: By integrating generalized psychophysiological interaction (gPPI) analysis with independent component analysis (ICA), the current study analyzed existing fMRI datasets, in which 21 autistic and 21 non-autistic male adults viewed videos of social and nonsocial touch while undergoing MRI scans. RESULTS: A gPPI analysis of regions of interest revealed that autistic adults exhibited increased connectivity between sensory and social brain regions. The strength of some of these connections was positively associated with a higher preference for social touch and greater social responsiveness, suggesting neural compensatory mechanisms that may help autistic adults better understand the meaning of touch. At the level of large-scale brain networks extracted using ICA, atypical connectivity was predominantly observed between the sensorimotor network and other networks involved in social-emotional processing. Increased connectivity was observed in the sensorimotor network during nonsocial touch, suggesting that embodied simulation, the process by which individuals internally simulate touch experience of others in this context, may be more engaged when observing human-object interactions than during human-to-human touch. LIMITATIONS: This study focused on a specific subgroup of 21 autistic male adults with minimal support needs. Future research would benefit from including a more diverse autistic sample. CONCLUSIONS: This study reveals atypical context-dependent modulation of functional brain architecture associated with autism during touch observation. Neural compensatory mechanisms in autistic individuals who enjoy social touch and show higher social responsiveness may function as adaptive social responses. However, these compensations may be limited to specific brain regions, rather than occurring at the level of large-scale brain networks. En ligne : https://dx.doi.org/10.1186/s13229-025-00644-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Dynamic functional adaptations during touch observation in autism: connectivity strength is linked to attitudes towards social touch and social responsiveness [Texte imprimé et/ou numérique] / Haemy LEE MASSON, Auteur . - 11. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 11 Mots-clés : Humans  Male  Autistic Disorder/physiopathology/psychology/diagnostic imaging  Adult  Magnetic Resonance Imaging  Touch  Young Adult  Brain/diagnostic imaging/physiopathology  Social Behavior  Social Interaction  Brain Mapping  Autism  Embodied simulation  Functional connectivity  Generalized psychophysiological interaction  Independent component analysis  Social perception  Social responsiveness  Social touch  Vicarious touch  provided written informed consent, and the Medical Ethical Committee of KU Leuven  approved the original study (S53768 and S59577). Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic adults experience differences in social interactions involving physical contact. Brain imaging studies suggest that these differences may be related to atypical brain responses to social-affective cues, affecting both the experience of receiving touch and observing it in others. However, it remains unclear whether these atypical responses are limited to specific brain regions or represent broader alterations in brain connectivity. The current study investigated how the functional network architecture is modulated during touch observation associated with autism and explored the extent to which changes in this architecture are associated with individual differences in social touch preferences and social responsiveness. METHODS: By integrating generalized psychophysiological interaction (gPPI) analysis with independent component analysis (ICA), the current study analyzed existing fMRI datasets, in which 21 autistic and 21 non-autistic male adults viewed videos of social and nonsocial touch while undergoing MRI scans. RESULTS: A gPPI analysis of regions of interest revealed that autistic adults exhibited increased connectivity between sensory and social brain regions. The strength of some of these connections was positively associated with a higher preference for social touch and greater social responsiveness, suggesting neural compensatory mechanisms that may help autistic adults better understand the meaning of touch. At the level of large-scale brain networks extracted using ICA, atypical connectivity was predominantly observed between the sensorimotor network and other networks involved in social-emotional processing. Increased connectivity was observed in the sensorimotor network during nonsocial touch, suggesting that embodied simulation, the process by which individuals internally simulate touch experience of others in this context, may be more engaged when observing human-object interactions than during human-to-human touch. LIMITATIONS: This study focused on a specific subgroup of 21 autistic male adults with minimal support needs. Future research would benefit from including a more diverse autistic sample. CONCLUSIONS: This study reveals atypical context-dependent modulation of functional brain architecture associated with autism during touch observation. Neural compensatory mechanisms in autistic individuals who enjoy social touch and show higher social responsiveness may function as adaptive social responses. However, these compensations may be limited to specific brain regions, rather than occurring at the level of large-scale brain networks. En ligne : https://dx.doi.org/10.1186/s13229-025-00644-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Altered interactive dynamics of gaze behavior during face-to-face interaction in autistic individuals: a dual eye-tracking study / Bastian SCHILLER ; Antonia VEHLEN ; Kathrin NICKEL ; Ludger Tebartz VAN ELST ; Gregor DOMES ; Markus HEINRICHS in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 12 Titre : Altered interactive dynamics of gaze behavior during face-to-face interaction in autistic individuals: a dual eye-tracking study Type de document : Texte imprimé et/ou numérique Auteurs : Bastian SCHILLER, Auteur ; Antonia VEHLEN, Auteur ; Kathrin NICKEL, Auteur ; Ludger Tebartz VAN ELST, Auteur ; Gregor DOMES, Auteur ; Markus HEINRICHS, Auteur Article en page(s) : 12 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Eye-Tracking Technology  Autistic Disorder/physiopathology/psychology  Fixation, Ocular  Adult  Young Adult  Social Interaction  Adolescent  Eye Movements  Case-Control Studies  Autism spectrum  Dual eye-tracking  Naturalistic gaze behavior  Social interaction  the University of Freiburg approved this study (reference number: EK-Freiburg:  439/15). All participants gave written informed consent before the experiment  took place. Autism-related language preferences: The authors of this paper aimed  to use terminology that aligns with the language preferences of autistic adults,  referring to [93]. Consent for publication: Not applicable. Competing interests:  The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous eye-tracking research on autistic individuals has mostly examined the gaze behavior of one individual in response to social stimuli presented on a computer screen, suggesting that there is atypical gaze behavior. However, it is unknown how these findings translate to the interactive dynamics of gaze behavior during "face-to-face" encounters between two individuals. Only by analyzing the gaze behaviour of both interaction partners is it possible to determine the frequency of actual eye-contact and who initiates or breaks such periods of mutual eye gaze. The knowledge gained from this analysis could contribute to theorizing about the psychological mechanisms (e.g., gaze avoidance vs. gaze indifference) underlying autism. METHODS: The present study applied a novel dual eye-tracking setup that allows the assessment and analysis of the interactive dynamics of gaze behavior regarding (i) mutual eye gaze (i.e., eye contact), (ii) initiations, and (iii) break-ups of eye contact. Participants (37 autistic individuals, 37 age- and IQ-matched neurotypical individuals) performed a semi-standardized social interaction (i.e., Fast Friends Procedure) with a confederate (trained to interact in a standardized manner). RESULTS: Eye contact was reduced in interactions involving autistic individuals. Additional analyses revealed that this reduction was primarily due to the more frequent breaking of eye contact by these individuals. We also found considerable heterogeneity among autistic individuals, with atypical gaze behavior present in only about half of the sample. LIMITATIONS: Further research is required to determine whether the interactive dynamics of gaze behavior observed in this dual eye-tracking setup can be generalized to real-world situations. Future studies could also include arousal-related physiological measures. CONCLUSIONS: By tracking the gaze behavior of two interacting individuals, this study reveals specific atypicalities in the interactive dynamics of gaze behavior in a subset of autistic individuals, potentially informing diagnostic and therapeutic decisions. More broadly, our study highlights the added value of dual eye-tracking in elucidating the interactive nature of social encounters in both neurodiverse and neurotypical individuals. TRIAL REGISTRATION: The study was registered as a clinical trial before starting data collection ( https://drks.de/search/en/trial/DRKS00018957 ; Registration Date: 12/17/2019). En ligne : https://dx.doi.org/10.1186/s13229-025-00645-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Altered interactive dynamics of gaze behavior during face-to-face interaction in autistic individuals: a dual eye-tracking study [Texte imprimé et/ou numérique] / Bastian SCHILLER, Auteur ; Antonia VEHLEN, Auteur ; Kathrin NICKEL, Auteur ; Ludger Tebartz VAN ELST, Auteur ; Gregor DOMES, Auteur ; Markus HEINRICHS, Auteur . - 12. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 12 Mots-clés : Humans  Male  Female  Eye-Tracking Technology  Autistic Disorder/physiopathology/psychology  Fixation, Ocular  Adult  Young Adult  Social Interaction  Adolescent  Eye Movements  Case-Control Studies  Autism spectrum  Dual eye-tracking  Naturalistic gaze behavior  Social interaction  the University of Freiburg approved this study (reference number: EK-Freiburg:  439/15). All participants gave written informed consent before the experiment  took place. Autism-related language preferences: The authors of this paper aimed  to use terminology that aligns with the language preferences of autistic adults,  referring to [93]. Consent for publication: Not applicable. Competing interests:  The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous eye-tracking research on autistic individuals has mostly examined the gaze behavior of one individual in response to social stimuli presented on a computer screen, suggesting that there is atypical gaze behavior. However, it is unknown how these findings translate to the interactive dynamics of gaze behavior during "face-to-face" encounters between two individuals. Only by analyzing the gaze behaviour of both interaction partners is it possible to determine the frequency of actual eye-contact and who initiates or breaks such periods of mutual eye gaze. The knowledge gained from this analysis could contribute to theorizing about the psychological mechanisms (e.g., gaze avoidance vs. gaze indifference) underlying autism. METHODS: The present study applied a novel dual eye-tracking setup that allows the assessment and analysis of the interactive dynamics of gaze behavior regarding (i) mutual eye gaze (i.e., eye contact), (ii) initiations, and (iii) break-ups of eye contact. Participants (37 autistic individuals, 37 age- and IQ-matched neurotypical individuals) performed a semi-standardized social interaction (i.e., Fast Friends Procedure) with a confederate (trained to interact in a standardized manner). RESULTS: Eye contact was reduced in interactions involving autistic individuals. Additional analyses revealed that this reduction was primarily due to the more frequent breaking of eye contact by these individuals. We also found considerable heterogeneity among autistic individuals, with atypical gaze behavior present in only about half of the sample. LIMITATIONS: Further research is required to determine whether the interactive dynamics of gaze behavior observed in this dual eye-tracking setup can be generalized to real-world situations. Future studies could also include arousal-related physiological measures. CONCLUSIONS: By tracking the gaze behavior of two interacting individuals, this study reveals specific atypicalities in the interactive dynamics of gaze behavior in a subset of autistic individuals, potentially informing diagnostic and therapeutic decisions. More broadly, our study highlights the added value of dual eye-tracking in elucidating the interactive nature of social encounters in both neurodiverse and neurotypical individuals. TRIAL REGISTRATION: The study was registered as a clinical trial before starting data collection ( https://drks.de/search/en/trial/DRKS00018957 ; Registration Date: 12/17/2019). En ligne : https://dx.doi.org/10.1186/s13229-025-00645-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Exploring EEG resting state differences in autism: sparse findings from a large cohort / Wenyi XIAO ; Nemanja VACI ; Michael X COHEN ; Elizabeth MILNE in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 13 Titre : Exploring EEG resting state differences in autism: sparse findings from a large cohort Type de document : Texte imprimé et/ou numérique Auteurs : Wenyi XIAO, Auteur ; Nemanja VACI, Auteur ; Michael X COHEN, Auteur ; Elizabeth MILNE, Auteur Article en page(s) : 13 Langues : Anglais (eng) Mots-clés : Humans  Electroencephalography  Male  Female  Autistic Disorder/physiopathology/diagnosis  Child  Adolescent  Adult  Young Adult  Rest  Cohort Studies  Child, Preschool  Autism diagnosis  Big data  Biomarkers  Heterogeneity  NIMH data archive  Neurodevelopmental disorders  Replication  Resting state  data were drawn from the National Institute of Mental Health Data Archive (NDA).  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism is a complex neurodevelopmental condition, the precise neurobiological underpinnings of which remain elusive. Here, we focus on group differences in resting state EEG (rsEEG). Although many previous reports have pointed to differences between autistic and neurotypical participants in rsEEG, results have failed to replicate, sample sizes have typically been small, and only a small number of variables are reported in each study. METHODS: Here, we combined five datasets to create a large sample of autistic and neurotypical individuals (n = 776) and extracted 726 variables from each participant's data. We computed effect sizes and split-half replication rate for group differences between autistic and neurotypical individuals for each EEG variable while accounting for age, sex and IQ. Bootstrapping analysis with different sample sizes was done to establish how effect size and replicability varied with sample size. RESULTS: Despite the broad and exploratory approach, very few EEG measures varied with autism diagnosis, and when larger effects were found, the majority were not replicable under split-half testing. In the bootstrap analysis, smaller sample sizes were associated with larger effect sizes but lower replication rates. LIMITATIONS: Although we extracted a comprehensive set of EEG signal components from the data, there is the possibility that measures more sensitive to group differences may exist outside the set that we tested. The combination of data from different laboratories may have obscured group differences. However, our harmonisation process was sufficient to reveal several expected maturational changes in the EEG (e.g. delta power reduction with age), providing reassurance regarding both the integrity of the data and the validity of our data-handling and analysis approaches. CONCLUSIONS: Taken together, these data do not produce compelling evidence for a clear neurobiological signature that can be identified in autism. Instead, our results are consistent with heterogeneity in autism, and caution against studies that use autism diagnosis alone as a method to categorise complex and varied neurobiological profiles. En ligne : https://dx.doi.org/10.1186/s13229-025-00647-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Exploring EEG resting state differences in autism: sparse findings from a large cohort [Texte imprimé et/ou numérique] / Wenyi XIAO, Auteur ; Nemanja VACI, Auteur ; Michael X COHEN, Auteur ; Elizabeth MILNE, Auteur . - 13. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 13 Mots-clés : Humans  Electroencephalography  Male  Female  Autistic Disorder/physiopathology/diagnosis  Child  Adolescent  Adult  Young Adult  Rest  Cohort Studies  Child, Preschool  Autism diagnosis  Big data  Biomarkers  Heterogeneity  NIMH data archive  Neurodevelopmental disorders  Replication  Resting state  data were drawn from the National Institute of Mental Health Data Archive (NDA).  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism is a complex neurodevelopmental condition, the precise neurobiological underpinnings of which remain elusive. Here, we focus on group differences in resting state EEG (rsEEG). Although many previous reports have pointed to differences between autistic and neurotypical participants in rsEEG, results have failed to replicate, sample sizes have typically been small, and only a small number of variables are reported in each study. METHODS: Here, we combined five datasets to create a large sample of autistic and neurotypical individuals (n = 776) and extracted 726 variables from each participant's data. We computed effect sizes and split-half replication rate for group differences between autistic and neurotypical individuals for each EEG variable while accounting for age, sex and IQ. Bootstrapping analysis with different sample sizes was done to establish how effect size and replicability varied with sample size. RESULTS: Despite the broad and exploratory approach, very few EEG measures varied with autism diagnosis, and when larger effects were found, the majority were not replicable under split-half testing. In the bootstrap analysis, smaller sample sizes were associated with larger effect sizes but lower replication rates. LIMITATIONS: Although we extracted a comprehensive set of EEG signal components from the data, there is the possibility that measures more sensitive to group differences may exist outside the set that we tested. The combination of data from different laboratories may have obscured group differences. However, our harmonisation process was sufficient to reveal several expected maturational changes in the EEG (e.g. delta power reduction with age), providing reassurance regarding both the integrity of the data and the validity of our data-handling and analysis approaches. CONCLUSIONS: Taken together, these data do not produce compelling evidence for a clear neurobiological signature that can be identified in autism. Instead, our results are consistent with heterogeneity in autism, and caution against studies that use autism diagnosis alone as a method to categorise complex and varied neurobiological profiles. En ligne : https://dx.doi.org/10.1186/s13229-025-00647-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice / Stijn VAN DE SOMPELE ; Clemence LIGNEUL ; Camille CHATELAIN ; Christophe BARREA ; Jason P LERCH ; Beatrice M FILIPPI ; Serpil ALKAN ; Elfride DE BAERE ; Jamie JOHNSTON ; Steven J CLAPCOTE in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 14 Titre : Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice Type de document : Texte imprimé et/ou numérique Auteurs : Stijn VAN DE SOMPELE, Auteur ; Clemence LIGNEUL, Auteur ; Camille CHATELAIN, Auteur ; Christophe BARREA, Auteur ; Jason P LERCH, Auteur ; Beatrice M FILIPPI, Auteur ; Serpil ALKAN, Auteur ; Elfride DE BAERE, Auteur ; Jamie JOHNSTON, Auteur ; Steven J CLAPCOTE, Auteur Article en page(s) : 14 Langues : Anglais (eng) Mots-clés : Animals  Humans  Male  Female  Mice  Autistic Disorder/genetics  Alleles  Intellectual Disability/genetics  Pedigree  Autism Spectrum Disorder/genetics  Child  Phenotype  Behavior, Animal  Membrane Proteins/genetics  Social Behavior  Mutation  Adult  Child, Preschool  DNA-Binding Proteins  Autism spectrum disorder  Intellectual disability  Olfactory behavior  Pdzd8  Social discrimination  approved by Ghent University Ethical Committee. The affected individuals were  recruited to the study with the informed consent of their mother using a process  that adhered to the tenets of the Declaration of Helsinki. The mouse experiments  were conducted in compliance with the UK Animals (Scientific Procedures) Act 1986  under UK Home Office licences and approved by the Animal Welfare and Ethical  Review Body at the University of Leeds. Consent for publication: Written consent  for publication of case reports and images pertaining to the affected individuals  was obtained from their mother. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8(tm1b)) mice that exhibit stereotyped motor behavior relevant to ASD. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the PDZD8 variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the Pdzd8(tm1b) mouse line. Metabolic activity was profiled using sealed metabolic cages. RESULTS: The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, Pdzd8(tm1b) mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, Pdzd8(tm1b) mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis. LIMITATIONS: The total number of known cases of PDZD8-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels. CONCLUSIONS: Our finding that the Pdzd8(tm1b) mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by Pdzd8(tm1b) mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized. En ligne : https://dx.doi.org/10.1186/s13229-025-00650-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice [Texte imprimé et/ou numérique] / Stijn VAN DE SOMPELE, Auteur ; Clemence LIGNEUL, Auteur ; Camille CHATELAIN, Auteur ; Christophe BARREA, Auteur ; Jason P LERCH, Auteur ; Beatrice M FILIPPI, Auteur ; Serpil ALKAN, Auteur ; Elfride DE BAERE, Auteur ; Jamie JOHNSTON, Auteur ; Steven J CLAPCOTE, Auteur . - 14. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 14 Mots-clés : Animals  Humans  Male  Female  Mice  Autistic Disorder/genetics  Alleles  Intellectual Disability/genetics  Pedigree  Autism Spectrum Disorder/genetics  Child  Phenotype  Behavior, Animal  Membrane Proteins/genetics  Social Behavior  Mutation  Adult  Child, Preschool  DNA-Binding Proteins  Autism spectrum disorder  Intellectual disability  Olfactory behavior  Pdzd8  Social discrimination  approved by Ghent University Ethical Committee. The affected individuals were  recruited to the study with the informed consent of their mother using a process  that adhered to the tenets of the Declaration of Helsinki. The mouse experiments  were conducted in compliance with the UK Animals (Scientific Procedures) Act 1986  under UK Home Office licences and approved by the Animal Welfare and Ethical  Review Body at the University of Leeds. Consent for publication: Written consent  for publication of case reports and images pertaining to the affected individuals  was obtained from their mother. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8(tm1b)) mice that exhibit stereotyped motor behavior relevant to ASD. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the PDZD8 variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the Pdzd8(tm1b) mouse line. Metabolic activity was profiled using sealed metabolic cages. RESULTS: The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, Pdzd8(tm1b) mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, Pdzd8(tm1b) mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis. LIMITATIONS: The total number of known cases of PDZD8-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels. CONCLUSIONS: Our finding that the Pdzd8(tm1b) mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by Pdzd8(tm1b) mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized. En ligne : https://dx.doi.org/10.1186/s13229-025-00650-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Do autistic individuals show atypical performance in probabilistic learning? A comparison of cue-number, predictive strength, and prediction error / Lei ZHANG ; Fang LIU in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 15 Titre : Do autistic individuals show atypical performance in probabilistic learning? A comparison of cue-number, predictive strength, and prediction error Type de document : Texte imprimé et/ou numérique Auteurs : Lei ZHANG, Auteur ; Fang LIU, Auteur Article en page(s) : 15 Langues : Anglais (eng) Mots-clés : Humans  Autistic Disorder/psychology/physiopathology/diagnosis  Cues  Male  Adult  Female  Probability Learning  Young Adult  Reinforcement, Psychology  Learning  Associative learning  Bayesian  Prediction errors  Predictive coding  Probabilistic learning  Reinforcement learning  reviewed and approved by the University Research Ethics Committee (UREC) at the  University of Reading (reference number: UREC 20/28). All participants provided  their written informed consent prior to their participation. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: According to recent models of autism, autistic individuals may find learning probabilistic cue-outcome associations more challenging than deterministic learning, though empirical evidence for this is mixed. Here we examined the mechanism of probabilistic learning more closely by comparing autistic and non-autistic adults on inferring a target cue from multiple cues or integrating multiple target cues and learning from associations with various predictive strengths. METHODS: 52 autistic and 52 non-autistic participants completed three tasks: (i) single-cue probabilistic learning, in which they had to infer a single target cue from multiple cues to learn cue-outcome associations; (ii) multi-cue probabilistic learning, in which they had to learn associations of various predictive strengths via integration of multiple cues; and (iii) reinforcement learning, which required learning the contingencies of two stimuli with a probabilistic reinforcement schedule. Accuracy on the two probabilistic learning tasks was modelled separately using a binomial mixed effects model whereas computational modelling was performed on the reinforcement learning data to obtain a model parameter on prediction error integration (i.e., learning rate). RESULTS: No group differences were found in the single-cue probabilistic learning task. Group differences were evident for the multi-cue probabilistic learning task for associations that are weakly predictive (between 40 and 60%) but not when they are strongly predictive (10-20% or 80-90%). Computational modelling on the reinforcement learning task revealed that, as a group, autistic individuals had a higher learning rate than non-autistic individuals. LIMITATIONS: Due to the online nature of the study, we could not confirm the diagnosis of our autistic sample. The autistic participants were likely to have typical intelligence, and so our findings may not be generalisable to the entire autistic population. The learning tasks are constrained by a relatively small number of trials, and so it is unclear whether group differences will still be seen when given more trials. CONCLUSIONS: Autistic adults showed similar performance as non-autistic adults in learning associations by inferring a single cue or integrating multiple cues when the predictive strength was strong. However, non-autistic adults outperformed autistic adults when the predictive strength was weak, but only in the later phase. Autistic individuals were also more likely to incorporate prediction errors during decision making, which may explain their atypical performance on the weakly predictive associations. Our findings have implications for understanding differences in social cognition, which is often noisy and weakly predictive, among autistic individuals. En ligne : https://dx.doi.org/10.1186/s13229-025-00651-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Do autistic individuals show atypical performance in probabilistic learning? A comparison of cue-number, predictive strength, and prediction error [Texte imprimé et/ou numérique] / Lei ZHANG, Auteur ; Fang LIU, Auteur . - 15. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 15 Mots-clés : Humans  Autistic Disorder/psychology/physiopathology/diagnosis  Cues  Male  Adult  Female  Probability Learning  Young Adult  Reinforcement, Psychology  Learning  Associative learning  Bayesian  Prediction errors  Predictive coding  Probabilistic learning  Reinforcement learning  reviewed and approved by the University Research Ethics Committee (UREC) at the  University of Reading (reference number: UREC 20/28). All participants provided  their written informed consent prior to their participation. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: According to recent models of autism, autistic individuals may find learning probabilistic cue-outcome associations more challenging than deterministic learning, though empirical evidence for this is mixed. Here we examined the mechanism of probabilistic learning more closely by comparing autistic and non-autistic adults on inferring a target cue from multiple cues or integrating multiple target cues and learning from associations with various predictive strengths. METHODS: 52 autistic and 52 non-autistic participants completed three tasks: (i) single-cue probabilistic learning, in which they had to infer a single target cue from multiple cues to learn cue-outcome associations; (ii) multi-cue probabilistic learning, in which they had to learn associations of various predictive strengths via integration of multiple cues; and (iii) reinforcement learning, which required learning the contingencies of two stimuli with a probabilistic reinforcement schedule. Accuracy on the two probabilistic learning tasks was modelled separately using a binomial mixed effects model whereas computational modelling was performed on the reinforcement learning data to obtain a model parameter on prediction error integration (i.e., learning rate). RESULTS: No group differences were found in the single-cue probabilistic learning task. Group differences were evident for the multi-cue probabilistic learning task for associations that are weakly predictive (between 40 and 60%) but not when they are strongly predictive (10-20% or 80-90%). Computational modelling on the reinforcement learning task revealed that, as a group, autistic individuals had a higher learning rate than non-autistic individuals. LIMITATIONS: Due to the online nature of the study, we could not confirm the diagnosis of our autistic sample. The autistic participants were likely to have typical intelligence, and so our findings may not be generalisable to the entire autistic population. The learning tasks are constrained by a relatively small number of trials, and so it is unclear whether group differences will still be seen when given more trials. CONCLUSIONS: Autistic adults showed similar performance as non-autistic adults in learning associations by inferring a single cue or integrating multiple cues when the predictive strength was strong. However, non-autistic adults outperformed autistic adults when the predictive strength was weak, but only in the later phase. Autistic individuals were also more likely to incorporate prediction errors during decision making, which may explain their atypical performance on the weakly predictive associations. Our findings have implications for understanding differences in social cognition, which is often noisy and weakly predictive, among autistic individuals. En ligne : https://dx.doi.org/10.1186/s13229-025-00651-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Transcallosal 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)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 16 Titre : Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years Type de document : Texte imprimé et/ou numérique 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 [article] Transcallosal white matter and cortical gray matter variations in autistic adults aged 30-73 years [Texte imprimé et/ou numérique] / 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

Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice / David HO-TIENG ; Kevin C LISTER ; Weihua CAI ; Calvin WONG ; Nicole BROWN ; Jonathan FAN ; Volodya HOVHANNISYAN ; Sonali UTTAM ; Masha PRAGER-KHOUTORSKY ; Nahum SONENBERG ; Christos G GKOGKAS ; Arkady KHOUTORSKY in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 17 Titre : Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice Type de document : Texte imprimé et/ou numérique Auteurs : David HO-TIENG, Auteur ; Kevin C LISTER, Auteur ; Weihua CAI, Auteur ; Calvin WONG, Auteur ; Nicole BROWN, Auteur ; Jonathan FAN, Auteur ; Volodya HOVHANNISYAN, Auteur ; Sonali UTTAM, Auteur ; Masha PRAGER-KHOUTORSKY, Auteur ; Nahum SONENBERG, Auteur ; Christos G GKOGKAS, Auteur ; Arkady KHOUTORSKY, Auteur Article en page(s) : 17 Langues : Anglais (eng) Mots-clés : Animals  Microglia/metabolism/pathology  Fragile X Mental Retardation Protein/genetics/metabolism  Female  Male  Down-Regulation  Behavior, Animal  Mice  Mice, Inbred C57BL  Fragile X Syndrome/metabolism/genetics/pathology  Social Behavior  Animals, Newborn  Fmr1  Animal models  Behaviours reminiscent of autism  Microglia  Council on Animal Care guidelines and approved by McGill University?s Animal Care  Committee. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects. Microglia, immune cells critical for the refinement of neuronal circuits during brain development, have been implicated in various neurodevelopmental disorders, including fragile X syndrome. However, it is unknown whether reduced Fmr1 expression in microglia leads to molecular and behavioral phenotypes. METHODS: We downregulated Fmr1 in microglia during early and late postnatal development and studied the effect on microglial morphology and distinct behaviours. RESULTS: Female, but not male, adult mice with downregulation of Fmr1 in microglia during early development exhibited reactive microglia and behavioral phenotypes, including enhanced self-grooming and alterations in social interaction. Downregulation of Fmr1 in microglia during late development induced a milder phenotype, characterized by impaired preference for social novelty without affecting microglia morphology. CONCLUSIONS: The downregulation of Fmr1 and its encoded protein FMRP in microglia contributes to behavioural phenotypes in a sex-specific manner. En ligne : https://dx.doi.org/10.1186/s13229-025-00648-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice [Texte imprimé et/ou numérique] / David HO-TIENG, Auteur ; Kevin C LISTER, Auteur ; Weihua CAI, Auteur ; Calvin WONG, Auteur ; Nicole BROWN, Auteur ; Jonathan FAN, Auteur ; Volodya HOVHANNISYAN, Auteur ; Sonali UTTAM, Auteur ; Masha PRAGER-KHOUTORSKY, Auteur ; Nahum SONENBERG, Auteur ; Christos G GKOGKAS, Auteur ; Arkady KHOUTORSKY, Auteur . - 17. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 17 Mots-clés : Animals  Microglia/metabolism/pathology  Fragile X Mental Retardation Protein/genetics/metabolism  Female  Male  Down-Regulation  Behavior, Animal  Mice  Mice, Inbred C57BL  Fragile X Syndrome/metabolism/genetics/pathology  Social Behavior  Animals, Newborn  Fmr1  Animal models  Behaviours reminiscent of autism  Microglia  Council on Animal Care guidelines and approved by McGill University?s Animal Care  Committee. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects. Microglia, immune cells critical for the refinement of neuronal circuits during brain development, have been implicated in various neurodevelopmental disorders, including fragile X syndrome. However, it is unknown whether reduced Fmr1 expression in microglia leads to molecular and behavioral phenotypes. METHODS: We downregulated Fmr1 in microglia during early and late postnatal development and studied the effect on microglial morphology and distinct behaviours. RESULTS: Female, but not male, adult mice with downregulation of Fmr1 in microglia during early development exhibited reactive microglia and behavioral phenotypes, including enhanced self-grooming and alterations in social interaction. Downregulation of Fmr1 in microglia during late development induced a milder phenotype, characterized by impaired preference for social novelty without affecting microglia morphology. CONCLUSIONS: The downregulation of Fmr1 and its encoded protein FMRP in microglia contributes to behavioural phenotypes in a sex-specific manner. En ligne : https://dx.doi.org/10.1186/s13229-025-00648-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

White matter microstructure as a potential contributor to differences in resting state alpha activity between neurotypical and autistic children: a longitudinal multimodal imaging study / Heather L GREEN ; Marybeth MCNAMEE ; Rose E FRANZEN ; Marissa DIPIERO ; Jeffrey I BERMAN ; Matthew KU ; Luke BLOY ; Song LIU ; Megan AIREY ; Sophia GOLDIN ; Lisa BLASKEY ; Emily S KUSCHNER ; Mina KIM ; Kimberly KONKA ; Gregory A MILLER ; J Christopher EDGAR in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 19 Titre : White matter microstructure as a potential contributor to differences in resting state alpha activity between neurotypical and autistic children: a longitudinal multimodal imaging study Type de document : Texte imprimé et/ou numérique Auteurs : Heather L GREEN, Auteur ; Marybeth MCNAMEE, Auteur ; Rose E FRANZEN, Auteur ; Marissa DIPIERO, Auteur ; Jeffrey I BERMAN, Auteur ; Matthew KU, Auteur ; Luke BLOY, Auteur ; Song LIU, Auteur ; Megan AIREY, Auteur ; Sophia GOLDIN, Auteur ; Lisa BLASKEY, Auteur ; Emily S KUSCHNER, Auteur ; Mina KIM, Auteur ; Kimberly KONKA, Auteur ; Gregory A MILLER, Auteur ; J Christopher EDGAR, Auteur Article en page(s) : 19 Langues : Anglais (eng) Mots-clés : Humans  White Matter/diagnostic imaging/pathology  Child  Male  Female  Longitudinal Studies  Magnetoencephalography  Diffusion Tensor Imaging  Multimodal Imaging  Autism Spectrum Disorder/diagnostic imaging/physiopathology  Rest  Alpha Rhythm  Autistic Disorder/diagnostic imaging/physiopathology  Brain/diagnostic imaging/physiopathology/pathology  Autism spectrum disorder  Dti  Magnetoencephalography  Maturation  Peak alpha frequency  Human ethics: This study was approved by the Institutional Review Board of  Children?s Hospital of Philadelphia (IRB 15-012531) and performed in accordance  with the Declaration of Helsinki. Parents gave written informed consent and the  children gave verbal and written assent. Index. décimale : PER Périodiques Résumé : We and others have demonstrated the resting-state (RS) peak alpha frequency (PAF) as a potential clinical marker for young children with autism spectrum disorder (ASD), with previous studies observing a higher PAF in school-age children with ASD versus typically developing (TD) children, as well as an association between the RS PAF and measures of processing speed in TD but not ASD. The brain mechanisms associated with these findings are unknown. A few studies have found that in children more mature optic radiation white matter is associated with a higher PAF. Other studies have reported white matter and neural activity associations in TD but not ASD. The present study hypothesized that group differences in the RS PAF are due, in part, to group differences in optic radiation white matter and PAF associations. The maturation of the RS PAF (measured using magnetoencephalography(MEG)), optic radiation white matter (measured using diffusion tensor imaging(DTI)), and associations with processing speed were assessed in a longitudinal cohort of TD and ASD children. Time 1 MEG and DTI measures were obtained at 6-8 years old (59TD and 56ASD) with follow-up brain measures collected?~?1.5 and ~?3 years later. The parietal-occipital PAF increased with age in both groups by 0.13 Hz/year, with a main effect of group showing the expected higher PAF in ASD than TD (an average of 0.26 Hz across the 3 time points). Across age, the RS PAF predicted processing speed in TD but not ASD. Finally, more mature optic radiation white matter measures (FA, RD, MD, AD) were associated with a higher PAF in both groups. Present findings provide additional evidence supporting the use of the RS PAF as a brain marker in children with ASD 6-10 years old, and replicate findings of an association between the RS PAF and processing speed in TD but not ASD. The hypothesis that the RS PAF group differences (with ASD leading TD by about 2 years) would be explained by group differences in optic radiation white matter was not supported, with brain structure-function associations indicating that more mature optic radiation white matter is associated with a higher RS PAF in both groups. En ligne : https://dx.doi.org/10.1186/s13229-025-00646-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] White matter microstructure as a potential contributor to differences in resting state alpha activity between neurotypical and autistic children: a longitudinal multimodal imaging study [Texte imprimé et/ou numérique] / Heather L GREEN, Auteur ; Marybeth MCNAMEE, Auteur ; Rose E FRANZEN, Auteur ; Marissa DIPIERO, Auteur ; Jeffrey I BERMAN, Auteur ; Matthew KU, Auteur ; Luke BLOY, Auteur ; Song LIU, Auteur ; Megan AIREY, Auteur ; Sophia GOLDIN, Auteur ; Lisa BLASKEY, Auteur ; Emily S KUSCHNER, Auteur ; Mina KIM, Auteur ; Kimberly KONKA, Auteur ; Gregory A MILLER, Auteur ; J Christopher EDGAR, Auteur . - 19. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 19 Mots-clés : Humans  White Matter/diagnostic imaging/pathology  Child  Male  Female  Longitudinal Studies  Magnetoencephalography  Diffusion Tensor Imaging  Multimodal Imaging  Autism Spectrum Disorder/diagnostic imaging/physiopathology  Rest  Alpha Rhythm  Autistic Disorder/diagnostic imaging/physiopathology  Brain/diagnostic imaging/physiopathology/pathology  Autism spectrum disorder  Dti  Magnetoencephalography  Maturation  Peak alpha frequency  Human ethics: This study was approved by the Institutional Review Board of  Children?s Hospital of Philadelphia (IRB 15-012531) and performed in accordance  with the Declaration of Helsinki. Parents gave written informed consent and the  children gave verbal and written assent. Index. décimale : PER Périodiques Résumé : We and others have demonstrated the resting-state (RS) peak alpha frequency (PAF) as a potential clinical marker for young children with autism spectrum disorder (ASD), with previous studies observing a higher PAF in school-age children with ASD versus typically developing (TD) children, as well as an association between the RS PAF and measures of processing speed in TD but not ASD. The brain mechanisms associated with these findings are unknown. A few studies have found that in children more mature optic radiation white matter is associated with a higher PAF. Other studies have reported white matter and neural activity associations in TD but not ASD. The present study hypothesized that group differences in the RS PAF are due, in part, to group differences in optic radiation white matter and PAF associations. The maturation of the RS PAF (measured using magnetoencephalography(MEG)), optic radiation white matter (measured using diffusion tensor imaging(DTI)), and associations with processing speed were assessed in a longitudinal cohort of TD and ASD children. Time 1 MEG and DTI measures were obtained at 6-8 years old (59TD and 56ASD) with follow-up brain measures collected?~?1.5 and ~?3 years later. The parietal-occipital PAF increased with age in both groups by 0.13 Hz/year, with a main effect of group showing the expected higher PAF in ASD than TD (an average of 0.26 Hz across the 3 time points). Across age, the RS PAF predicted processing speed in TD but not ASD. Finally, more mature optic radiation white matter measures (FA, RD, MD, AD) were associated with a higher PAF in both groups. Present findings provide additional evidence supporting the use of the RS PAF as a brain marker in children with ASD 6-10 years old, and replicate findings of an association between the RS PAF and processing speed in TD but not ASD. The hypothesis that the RS PAF group differences (with ASD leading TD by about 2 years) would be explained by group differences in optic radiation white matter was not supported, with brain structure-function associations indicating that more mature optic radiation white matter is associated with a higher RS PAF in both groups. En ligne : https://dx.doi.org/10.1186/s13229-025-00646-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism / Mengyuan CHEN ; Daoqi MEI ; Shengli SHI ; Jisheng GUO ; Chao GAO ; Qi WANG ; Shuai ZHAO ; Xingxue YAN ; Huichun ZHANG ; Yanli WANG ; Bin GUO ; Yaodong ZHANG in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 18 Titre : Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism Type de document : Texte imprimé et/ou numérique Auteurs : Mengyuan CHEN, Auteur ; Daoqi MEI, Auteur ; Shengli SHI, Auteur ; Jisheng GUO, Auteur ; Chao GAO, Auteur ; Qi WANG, Auteur ; Shuai ZHAO, Auteur ; Xingxue YAN, Auteur ; Huichun ZHANG, Auteur ; Yanli WANG, Auteur ; Bin GUO, Auteur ; Yaodong ZHANG, Auteur Article en page(s) : 18 Langues : Anglais (eng) Mots-clés : Animals  Prefrontal Cortex/metabolism  Interneurons/metabolism  Disease Models, Animal  Somatostatin/metabolism  Mice  Mice, Knockout  Autistic Disorder/genetics/metabolism  Social Behavior  Optogenetics  Male  Mice, Inbred C57BL  Autism Spectrum Disorder/metabolism  Magel2  Autism spectrum disorder  Medial prefrontal cortex  Social deficits  Somatostatin  procedures were performed according to the National Institutes of Health Guide  for the Care and Use of Laboratory Animals and were approved by the Animal Ethics  Committee of Zhengzhou University. Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects. Chemogenetic inhibition of mPFC SOM-containing interneurons resulted in reduced social interaction in wild-type Magel2 mice. These sociability deficits can be rescued by optogenetic activation by excitability of SOM in the mPFC and mPFC(SOM)-LS inhibitory pathway in Magel 2 knockout mice. These results demonstrate the hypoactivity for SOM action in the mPFC in social impairments, and suggest targeting this mechanism that may prove therapeutically beneficial for mitigating social behavioral disturbances observed in ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00653-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism [Texte imprimé et/ou numérique] / Mengyuan CHEN, Auteur ; Daoqi MEI, Auteur ; Shengli SHI, Auteur ; Jisheng GUO, Auteur ; Chao GAO, Auteur ; Qi WANG, Auteur ; Shuai ZHAO, Auteur ; Xingxue YAN, Auteur ; Huichun ZHANG, Auteur ; Yanli WANG, Auteur ; Bin GUO, Auteur ; Yaodong ZHANG, Auteur . - 18. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 18 Mots-clés : Animals  Prefrontal Cortex/metabolism  Interneurons/metabolism  Disease Models, Animal  Somatostatin/metabolism  Mice  Mice, Knockout  Autistic Disorder/genetics/metabolism  Social Behavior  Optogenetics  Male  Mice, Inbred C57BL  Autism Spectrum Disorder/metabolism  Magel2  Autism spectrum disorder  Medial prefrontal cortex  Social deficits  Somatostatin  procedures were performed according to the National Institutes of Health Guide  for the Care and Use of Laboratory Animals and were approved by the Animal Ethics  Committee of Zhengzhou University. Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects. Chemogenetic inhibition of mPFC SOM-containing interneurons resulted in reduced social interaction in wild-type Magel2 mice. These sociability deficits can be rescued by optogenetic activation by excitability of SOM in the mPFC and mPFC(SOM)-LS inhibitory pathway in Magel 2 knockout mice. These results demonstrate the hypoactivity for SOM action in the mPFC in social impairments, and suggest targeting this mechanism that may prove therapeutically beneficial for mitigating social behavioral disturbances observed in ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00653-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Obsessional thinking and autistic traits are each uniquely associated with greater traits of gender dysphoria in clinical and nonclinical adult samples / Dheeraj RAI ; Punit SHAH ; Chris ASHWIN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 20 Titre : Obsessional thinking and autistic traits are each uniquely associated with greater traits of gender dysphoria in clinical and nonclinical adult samples Type de document : Texte imprimé et/ou numérique Auteurs : Dheeraj RAI, Auteur ; Punit SHAH, Auteur ; Chris ASHWIN, Auteur Article en page(s) : 20 Langues : Anglais (eng) Mots-clés : Humans  Female  Gender Dysphoria/psychology/diagnosis  Male  Adult  Autistic Disorder/diagnosis/psychology  Young Adult  Middle Aged  Obsessive Behavior/psychology/diagnosis  Adolescent  Thinking  Surveys and Questionnaires  Obsessive-Compulsive Disorder/diagnosis/psychology  Autism spectrum disorder  Gender dysphoria  Obsessive compulsive disorder  studies one and two were approved by the University of X ethics department.  Informed consent was obtained from all individual participants included in the  study. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Research has demonstrated a strong relationship between autism and gender dysphoria (GD) and that this relationship could be explained by obsessional interests which are characteristic of autism. However, these studies often measured obsessions using either single items which questions the reliability of the findings, or within autistic trait measures meaning the findings may simply index a more general relationship between autistic traits and GD. Therefore, the present study aimed to investigate the relationships between obsessional thoughts and traits of GD using a measure of obsessional thoughts alongside a measure of autistic traits, which was investigated in both non-clinical and clinical samples. METHODS: A total of 145 non-clinical participants took part in Study 1 and all completed the Autism-Spectrum Quotient (AQ) as a measure of autistic traits, the Obsessive-Compulsive Inventory-Revised (OCI-R) obsessional thoughts subscale as a measure of obsessional thoughts, and the Gender-Identity/Gender-Dysphoria Questionnaire (GIDYQ) to measure traits of GD. For Study 2, a total of 226 participants took part in Study 2 and all completed the same measures as in Study 1. They included participants diagnosed with GD (N = 49), autism (N = 65), OCD (N = 46) and controls with no diagnosis (N = 66). RESULTS: The hierarchical linear regression for Study 1 showed that both total AQ and OCI-R obsessional thoughts scores were uniquely associated with GIDYQ scores, with no interaction effect between the scores. The results for Study 2, from a hierarchical linear regression, once again found that obsessional thoughts and autistic traits were each uniquely associated with GIDYQ scores, but not their interaction. The GD and autistic groups both reported significantly greater traits of GD than the OCD and control groups, with the GD group reporting higher scores than the autistic group. LIMITATIONS: Participants self-reported their diagnoses for Study 2, but diagnostic tests to verify these were not administered. Traits of GD were also measured at a single point in time, despite such traits being transient and continuous. CONCLUSIONS: The results show both obsessional thoughts and autistic traits are uniquely associated with GD, and that autistic people experience greater traits of GD than other clinical groups. En ligne : https://dx.doi.org/10.1186/s13229-025-00649-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Obsessional thinking and autistic traits are each uniquely associated with greater traits of gender dysphoria in clinical and nonclinical adult samples [Texte imprimé et/ou numérique] / Dheeraj RAI, Auteur ; Punit SHAH, Auteur ; Chris ASHWIN, Auteur . - 20. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 20 Mots-clés : Humans  Female  Gender Dysphoria/psychology/diagnosis  Male  Adult  Autistic Disorder/diagnosis/psychology  Young Adult  Middle Aged  Obsessive Behavior/psychology/diagnosis  Adolescent  Thinking  Surveys and Questionnaires  Obsessive-Compulsive Disorder/diagnosis/psychology  Autism spectrum disorder  Gender dysphoria  Obsessive compulsive disorder  studies one and two were approved by the University of X ethics department.  Informed consent was obtained from all individual participants included in the  study. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Research has demonstrated a strong relationship between autism and gender dysphoria (GD) and that this relationship could be explained by obsessional interests which are characteristic of autism. However, these studies often measured obsessions using either single items which questions the reliability of the findings, or within autistic trait measures meaning the findings may simply index a more general relationship between autistic traits and GD. Therefore, the present study aimed to investigate the relationships between obsessional thoughts and traits of GD using a measure of obsessional thoughts alongside a measure of autistic traits, which was investigated in both non-clinical and clinical samples. METHODS: A total of 145 non-clinical participants took part in Study 1 and all completed the Autism-Spectrum Quotient (AQ) as a measure of autistic traits, the Obsessive-Compulsive Inventory-Revised (OCI-R) obsessional thoughts subscale as a measure of obsessional thoughts, and the Gender-Identity/Gender-Dysphoria Questionnaire (GIDYQ) to measure traits of GD. For Study 2, a total of 226 participants took part in Study 2 and all completed the same measures as in Study 1. They included participants diagnosed with GD (N = 49), autism (N = 65), OCD (N = 46) and controls with no diagnosis (N = 66). RESULTS: The hierarchical linear regression for Study 1 showed that both total AQ and OCI-R obsessional thoughts scores were uniquely associated with GIDYQ scores, with no interaction effect between the scores. The results for Study 2, from a hierarchical linear regression, once again found that obsessional thoughts and autistic traits were each uniquely associated with GIDYQ scores, but not their interaction. The GD and autistic groups both reported significantly greater traits of GD than the OCD and control groups, with the GD group reporting higher scores than the autistic group. LIMITATIONS: Participants self-reported their diagnoses for Study 2, but diagnostic tests to verify these were not administered. Traits of GD were also measured at a single point in time, despite such traits being transient and continuous. CONCLUSIONS: The results show both obsessional thoughts and autistic traits are uniquely associated with GD, and that autistic people experience greater traits of GD than other clinical groups. En ligne : https://dx.doi.org/10.1186/s13229-025-00649-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

The "Tetris effect": autistic and non-autistic people share an implicit drive for perceptual cohesion / Brónagh MCCOY ; Esther Wing-Chi YIP ; Carrie ALLISON ; Simon BARON-COHEN ; Rebecca P LAWSON in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 22 Titre : The "Tetris effect": autistic and non-autistic people share an implicit drive for perceptual cohesion Type de document : Texte imprimé et/ou numérique Auteurs : Brónagh MCCOY, Auteur ; Esther Wing-Chi YIP, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; Rebecca P LAWSON, Auteur Article en page(s) : 22 Langues : Anglais (eng) Mots-clés : Humans  Autistic Disorder/psychology/physiopathology  Male  Female  Adult  Young Adult  Adolescent  Middle Aged  Attention  Autism  Neurodiversity  Open materials  Perceptual cohesion  Replication  Spatial cognition  Tetris  Visual perception  performed in accordance with the Declaration of Helsinki and was approved by the  Psychology Research Ethics Committee at the University of Cambridge (PREC.  2019.098). Consent for publication: Not applicable. Availability of data and  materials: The datasets generated and analysed during the current study are  available in the OSF repository, https://osf.io/h9sjv/ . Plans to replicate Guan  and Firestone (2020) and investigate similar research questions in autistic and  non-autistic adults were pre-registered ( https://doi.org/10.17605/OSF.IO/2QVB5  ). Competing interests: One of the authors, SBC, was previously Editor-in-Chief  of Molecular Autism. All other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: When working on jigsaw puzzles, we mentally "combine" two pieces to form a composite image even before physically fitting them together. This happens when the separate pieces could logically create a cohesive picture and not when they are mismatched or incoherent. The capacity of the brain to combine individual elements to form possible wholes serves as the basis of perceptual organisation. This drive for perceptual cohesion-the "Tetris effect"-can be seen in the famous game, where people automatically perceive logical combinations from separate pieces. However, it is unclear how this presents in populations known to have perceptual differences, such as autistic people. Theories on the inclination to process local over global details in autism and autistic strengths in pattern recognition lead to conflicting predictions regarding the drive for perceptual cohesion in autistic compared to non-autistic people. METHODS: In this large-scale (n = 470) pre-registered online behavioural study, we aimed to replicate previous research conducted on neurotypical participants and to extend this work to autistic participants. We used two tasks with Tetris-style stimuli to examine how autistic (n = 196) and non-autistic (n = 274) adults implicitly perceive possible wholes from individual parts. Data were analysed using logistic mixed-effects regression models and hierarchical Signal Detection Theory modelling. RESULTS: Overall, we replicated the results from the original study in finding participants are more likely to perceive parts as wholes when there is the potential to form a whole, compared to when there is not. However, we found no differences between autistic and non-autistic participants across both tasks. LIMITATIONS: Although power calculations were carried out to assess sample sizes needed to detect a group difference, given the small effect size (Cohen's d = 0.37) in the original study, it may be that any existing group differences are still undetectable with the current sample size. CONCLUSIONS: We conclude that the "Tetris effect" is ubiquitous and seen in both neurotypical and neurodiverse populations. Our findings challenge the deficit-focussed narrative often seen in the autism literature and highlight the similarities in task performance between autistic and non-autistic participants. En ligne : https://dx.doi.org/10.1186/s13229-025-00654-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] The "Tetris effect": autistic and non-autistic people share an implicit drive for perceptual cohesion [Texte imprimé et/ou numérique] / Brónagh MCCOY, Auteur ; Esther Wing-Chi YIP, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; Rebecca P LAWSON, Auteur . - 22. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 22 Mots-clés : Humans  Autistic Disorder/psychology/physiopathology  Male  Female  Adult  Young Adult  Adolescent  Middle Aged  Attention  Autism  Neurodiversity  Open materials  Perceptual cohesion  Replication  Spatial cognition  Tetris  Visual perception  performed in accordance with the Declaration of Helsinki and was approved by the  Psychology Research Ethics Committee at the University of Cambridge (PREC.  2019.098). Consent for publication: Not applicable. Availability of data and  materials: The datasets generated and analysed during the current study are  available in the OSF repository, https://osf.io/h9sjv/ . Plans to replicate Guan  and Firestone (2020) and investigate similar research questions in autistic and  non-autistic adults were pre-registered ( https://doi.org/10.17605/OSF.IO/2QVB5  ). Competing interests: One of the authors, SBC, was previously Editor-in-Chief  of Molecular Autism. All other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: When working on jigsaw puzzles, we mentally "combine" two pieces to form a composite image even before physically fitting them together. This happens when the separate pieces could logically create a cohesive picture and not when they are mismatched or incoherent. The capacity of the brain to combine individual elements to form possible wholes serves as the basis of perceptual organisation. This drive for perceptual cohesion-the "Tetris effect"-can be seen in the famous game, where people automatically perceive logical combinations from separate pieces. However, it is unclear how this presents in populations known to have perceptual differences, such as autistic people. Theories on the inclination to process local over global details in autism and autistic strengths in pattern recognition lead to conflicting predictions regarding the drive for perceptual cohesion in autistic compared to non-autistic people. METHODS: In this large-scale (n = 470) pre-registered online behavioural study, we aimed to replicate previous research conducted on neurotypical participants and to extend this work to autistic participants. We used two tasks with Tetris-style stimuli to examine how autistic (n = 196) and non-autistic (n = 274) adults implicitly perceive possible wholes from individual parts. Data were analysed using logistic mixed-effects regression models and hierarchical Signal Detection Theory modelling. RESULTS: Overall, we replicated the results from the original study in finding participants are more likely to perceive parts as wholes when there is the potential to form a whole, compared to when there is not. However, we found no differences between autistic and non-autistic participants across both tasks. LIMITATIONS: Although power calculations were carried out to assess sample sizes needed to detect a group difference, given the small effect size (Cohen's d = 0.37) in the original study, it may be that any existing group differences are still undetectable with the current sample size. CONCLUSIONS: We conclude that the "Tetris effect" is ubiquitous and seen in both neurotypical and neurodiverse populations. Our findings challenge the deficit-focussed narrative often seen in the autism literature and highlight the similarities in task performance between autistic and non-autistic participants. En ligne : https://dx.doi.org/10.1186/s13229-025-00654-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Atypical maturation of the functional connectome hierarchy in autism / Sunghun KIM ; Shinwon PARK ; Hyoungshin CHOI ; Bo-Yong PARK ; Hyunjin PARK in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 21 Titre : Atypical maturation of the functional connectome hierarchy in autism Type de document : Texte imprimé et/ou numérique Auteurs : Sunghun KIM, Auteur ; Shinwon PARK, Auteur ; Hyoungshin CHOI, Auteur ; Bo-Yong PARK, Auteur ; Hyunjin PARK, Auteur Article en page(s) : 21 Langues : Anglais (eng) Mots-clés : Humans  Connectome  Adolescent  Child  Male  Young Adult  Female  Magnetic Resonance Imaging  Brain/diagnostic imaging/physiopathology  Child, Preschool  Autism Spectrum Disorder/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology/diagnostic imaging  Adult  Autism spectrum disorder  Cortical hierarchy  Integration and segregation  Normative modeling Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is marked by disruptions in low-level sensory processing and higher-order sociocognitive functions, suggesting a complex interplay between different brain regions across the cortical hierarchy. However, the developmental trajectory of this hierarchical organization in ASD remains underexplored. Herein, we investigated the maturational abnormalities in the cortical hierarchy among individuals with ASD. METHODS: Resting-state functional magnetic resonance imaging data from three large-scale datasets were analyzed: Autism Brain Imaging Data Exchange I and II and Lifespan Human Connectome Project Development (aged 5-22 years). The principal functional connectivity gradient representing cortical hierarchy was estimated using diffusion map embedding. By applying normative modeling with the generalized additive model for location, scale, and shape (GAMLSS), we captured the nonlinear trajectories of the developing functional gradient, as well as the individual-level deviations in ASD from typical development based on centile scores measured as deviations from the normative curves. A whole-brain summary metric, the functional hierarchy score, was derived to measure the extent of abnormal maturation in individuals with ASD. Finally, through a series of mediation analyses, we examined the potential role of network-level connectomic disruptions between the diagnoses and deviations in the cortical hierarchy. RESULTS: The maturation of cortical hierarchy in individuals with ASD followed a non-linear trajectory, showing delayed maturation during childhood compared to that of typically developing individuals, followed by an accelerated "catch-up" phase during adolescence and a subsequent decline in young adulthood. The nature of these deviations varied across networks, with sensory and attention networks displaying the most pronounced abnormalities in childhood, while higher-order networks, particularly the default mode network (DMN), remaining impaired from childhood to adolescence. Mediation analyses revealed that the persistent reduction in DMN segregation throughout development was a key contributor to the atypical development of cortical hierarchy in ASD. LIMITATIONS: The uneven distribution of samples across age groups, particularly in the later stages of development, limited our ability to fully capture developmental trajectories among older individuals. CONCLUSIONS: These findings highlight the importance of understanding the developmental trajectories of cortical organization in ASD, collectively suggesting that early interventions aimed at promoting the normative development of higher-order networks may be critical for improving outcomes in individuals with ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00641-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Atypical maturation of the functional connectome hierarchy in autism [Texte imprimé et/ou numérique] / Sunghun KIM, Auteur ; Shinwon PARK, Auteur ; Hyoungshin CHOI, Auteur ; Bo-Yong PARK, Auteur ; Hyunjin PARK, Auteur . - 21. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 21 Mots-clés : Humans  Connectome  Adolescent  Child  Male  Young Adult  Female  Magnetic Resonance Imaging  Brain/diagnostic imaging/physiopathology  Child, Preschool  Autism Spectrum Disorder/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology/diagnostic imaging  Adult  Autism spectrum disorder  Cortical hierarchy  Integration and segregation  Normative modeling Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is marked by disruptions in low-level sensory processing and higher-order sociocognitive functions, suggesting a complex interplay between different brain regions across the cortical hierarchy. However, the developmental trajectory of this hierarchical organization in ASD remains underexplored. Herein, we investigated the maturational abnormalities in the cortical hierarchy among individuals with ASD. METHODS: Resting-state functional magnetic resonance imaging data from three large-scale datasets were analyzed: Autism Brain Imaging Data Exchange I and II and Lifespan Human Connectome Project Development (aged 5-22 years). The principal functional connectivity gradient representing cortical hierarchy was estimated using diffusion map embedding. By applying normative modeling with the generalized additive model for location, scale, and shape (GAMLSS), we captured the nonlinear trajectories of the developing functional gradient, as well as the individual-level deviations in ASD from typical development based on centile scores measured as deviations from the normative curves. A whole-brain summary metric, the functional hierarchy score, was derived to measure the extent of abnormal maturation in individuals with ASD. Finally, through a series of mediation analyses, we examined the potential role of network-level connectomic disruptions between the diagnoses and deviations in the cortical hierarchy. RESULTS: The maturation of cortical hierarchy in individuals with ASD followed a non-linear trajectory, showing delayed maturation during childhood compared to that of typically developing individuals, followed by an accelerated "catch-up" phase during adolescence and a subsequent decline in young adulthood. The nature of these deviations varied across networks, with sensory and attention networks displaying the most pronounced abnormalities in childhood, while higher-order networks, particularly the default mode network (DMN), remaining impaired from childhood to adolescence. Mediation analyses revealed that the persistent reduction in DMN segregation throughout development was a key contributor to the atypical development of cortical hierarchy in ASD. LIMITATIONS: The uneven distribution of samples across age groups, particularly in the later stages of development, limited our ability to fully capture developmental trajectories among older individuals. CONCLUSIONS: These findings highlight the importance of understanding the developmental trajectories of cortical organization in ASD, collectively suggesting that early interventions aimed at promoting the normative development of higher-order networks may be critical for improving outcomes in individuals with ASD. En ligne : https://dx.doi.org/10.1186/s13229-025-00641-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study / Jing LI in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 23 Titre : Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study Type de document : Texte imprimé et/ou numérique Auteurs : Jing LI, Auteur Article en page(s) : 23 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Imitative Behavior  Child, Preschool  Autistic Disorder/psychology/physiopathology  Communication  Social Skills  Social Behavior  Autism  Early Start Denver Model (ESDM)  Imitation  Social communication  by the Institute of Psychology, Chinese Academy of Sciences Child Subjects  Committee and was conducted in accordance with the Declaration of Helsinki.  Informed consent was obtained from the parents or guardians of children. Consent  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : Imitation is foundational to early social learning, yet autistic children often exhibit significant impairments in imitation, potentially impacting their social communication skills. This study examined the relationship between imitation abilities and social communication in autistic children and evaluated the effectiveness of the Early Start Denver Model (ESDM) intervention. The study included 52 autistic children aged 2-5, divided into an experimental group receiving ESDM intervention and a control group undergoing standard rehabilitation. We assessed the children's imitation and social communication skills before and after the intervention. Results indicated a significant positive correlation between imitation and social communication skills both before and after the intervention. Specifically, various forms of imitation (e.g., vocal, gestural, object-related) were closely linked to different domains of social communication (e.g., expressive communication, joint attention, social skills). Baseline imitation levels and improvements in imitation were significant predictors of enhanced social communication, jointly accounting for over half of the observed improvements in social communication, with imitation improvement being the strongest predictor. Age positively moderated the relationship between imitation and social communication, with older children showing a stronger impact of imitation on social communication. Although these effects were evident across groups, the ESDM group showed greater gains in imitation skills compared to the control group. However, we did not find evidence of an intervention effect on social communication skills. This study underscores the critical role of imitation in the social communication development of autistic children. These findings support the enhancement of imitation skills in early interventions for autistic children, highlighting the effectiveness of ESDM in fostering imitation abilities. En ligne : https://dx.doi.org/10.1186/s13229-025-00656-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study [Texte imprimé et/ou numérique] / Jing LI, Auteur . - 23. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 23 Mots-clés : Humans  Male  Female  Imitative Behavior  Child, Preschool  Autistic Disorder/psychology/physiopathology  Communication  Social Skills  Social Behavior  Autism  Early Start Denver Model (ESDM)  Imitation  Social communication  by the Institute of Psychology, Chinese Academy of Sciences Child Subjects  Committee and was conducted in accordance with the Declaration of Helsinki.  Informed consent was obtained from the parents or guardians of children. Consent  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : Imitation is foundational to early social learning, yet autistic children often exhibit significant impairments in imitation, potentially impacting their social communication skills. This study examined the relationship between imitation abilities and social communication in autistic children and evaluated the effectiveness of the Early Start Denver Model (ESDM) intervention. The study included 52 autistic children aged 2-5, divided into an experimental group receiving ESDM intervention and a control group undergoing standard rehabilitation. We assessed the children's imitation and social communication skills before and after the intervention. Results indicated a significant positive correlation between imitation and social communication skills both before and after the intervention. Specifically, various forms of imitation (e.g., vocal, gestural, object-related) were closely linked to different domains of social communication (e.g., expressive communication, joint attention, social skills). Baseline imitation levels and improvements in imitation were significant predictors of enhanced social communication, jointly accounting for over half of the observed improvements in social communication, with imitation improvement being the strongest predictor. Age positively moderated the relationship between imitation and social communication, with older children showing a stronger impact of imitation on social communication. Although these effects were evident across groups, the ESDM group showed greater gains in imitation skills compared to the control group. However, we did not find evidence of an intervention effect on social communication skills. This study underscores the critical role of imitation in the social communication development of autistic children. These findings support the enhancement of imitation skills in early interventions for autistic children, highlighting the effectiveness of ESDM in fostering imitation abilities. En ligne : https://dx.doi.org/10.1186/s13229-025-00656-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood / Molly PRIGGE ; Andrew ALEXANDER ; Brandon ZIELINSKI ; Janet LAINHART ; Jace KING in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 24 Titre : Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood Type de document : Texte imprimé et/ou numérique Auteurs : Molly PRIGGE, Auteur ; Andrew ALEXANDER, Auteur ; Brandon ZIELINSKI, Auteur ; Janet LAINHART, Auteur ; Jace KING, Auteur Article en page(s) : 24 Langues : Anglais (eng) Mots-clés : Humans  Male  Child  Adolescent  Magnetic Resonance Imaging  Brain/physiopathology/diagnostic imaging  Connectome/methods  Adult  Young Adult  Child, Preschool  Cross-Sectional Studies  Autistic Disorder/physiopathology  Nonlinear Dynamics  Autism Spectrum Disorder/physiopathology  Age Factors  Nerve Net/physiopathology  Age-related  Autism  Cross-sectional  Functional connectivity  Generalized additive model  fMRI  acquired by each individual site within the ABIDE repository. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Divergent age-related functional brain connectivity in autism spectrum disorder (ASD) has been observed using resting-state fMRI, although the specific findings are inconsistent across studies. Common statistical regression approaches that fit identical models across functional brain networks may contribute to these inconsistencies. Relationships among functional networks have been reported to follow unique nonlinear developmental trajectories, suggesting the need for flexible modeling. Here we apply generalized additive models (GAMs) to flexibly adapt to distinct network trajectories and simultaneously describe divergent age-related changes from childhood into mid-adulthood in ASD. METHODS: 1107 males, aged 5-40, from the ABIDE I & II cross-sectional datasets were analyzed. Functional connectivity was extracted using a network-based template. Connectivity values were harmonized using COMBAT-GAM. Connectivity-age relationships were assessed with thin-plate spline GAMs. Post-hoc analyses defined the age-ranges of divergent aging in ASD. RESULTS: Typically developing (TD) and ASD groups shared 15 brain connections that significantly changed with age (FDR-corrected p < 0.05). Network connectivity exhibited diverse nonlinear age-related trajectories across the functional connectome. Comparing ASD and TD groups, default mode to central executive between-network connectivity followed similar nonlinear paths with no group differences. Contrarily, the ASD group had chronic hypoconnectivity throughout default mode-ventral attentional (salience) and default mode-somatomotor aging trajectories. Within-network somatomotor connectivity was similar between groups in childhood but diverged in adolescence with the ASD group showing decreased within-network connectivity. Network connectivity between the somatomotor network and various other functional networks had fully disrupted age-related pathways in ASD compared to TD, displaying significantly different model curvatures and fits. LIMITATIONS: The present analysis includes only male participants and has a restricted age range, limiting analysis of early development and later life aging, years 40 and beyond. Additionally, our analysis is limited to large-scale network cortical functional parcellation. To parse more specificity of brain region connectivity, a fine-grained functional parcellation including subcortical areas may be warranted. CONCLUSION: Flexible non-linear modeling minimizes statistical assumptions and allows diagnosis-related brain connections to follow independent data-driven age-related pathways. Using GAMs, we describe complex age-related pathways throughout the human connectome and observe distinct periods of divergence in autism. En ligne : https://dx.doi.org/10.1186/s13229-025-00657-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood [Texte imprimé et/ou numérique] / Molly PRIGGE, Auteur ; Andrew ALEXANDER, Auteur ; Brandon ZIELINSKI, Auteur ; Janet LAINHART, Auteur ; Jace KING, Auteur . - 24. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 24 Mots-clés : Humans  Male  Child  Adolescent  Magnetic Resonance Imaging  Brain/physiopathology/diagnostic imaging  Connectome/methods  Adult  Young Adult  Child, Preschool  Cross-Sectional Studies  Autistic Disorder/physiopathology  Nonlinear Dynamics  Autism Spectrum Disorder/physiopathology  Age Factors  Nerve Net/physiopathology  Age-related  Autism  Cross-sectional  Functional connectivity  Generalized additive model  fMRI  acquired by each individual site within the ABIDE repository. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Divergent age-related functional brain connectivity in autism spectrum disorder (ASD) has been observed using resting-state fMRI, although the specific findings are inconsistent across studies. Common statistical regression approaches that fit identical models across functional brain networks may contribute to these inconsistencies. Relationships among functional networks have been reported to follow unique nonlinear developmental trajectories, suggesting the need for flexible modeling. Here we apply generalized additive models (GAMs) to flexibly adapt to distinct network trajectories and simultaneously describe divergent age-related changes from childhood into mid-adulthood in ASD. METHODS: 1107 males, aged 5-40, from the ABIDE I & II cross-sectional datasets were analyzed. Functional connectivity was extracted using a network-based template. Connectivity values were harmonized using COMBAT-GAM. Connectivity-age relationships were assessed with thin-plate spline GAMs. Post-hoc analyses defined the age-ranges of divergent aging in ASD. RESULTS: Typically developing (TD) and ASD groups shared 15 brain connections that significantly changed with age (FDR-corrected p < 0.05). Network connectivity exhibited diverse nonlinear age-related trajectories across the functional connectome. Comparing ASD and TD groups, default mode to central executive between-network connectivity followed similar nonlinear paths with no group differences. Contrarily, the ASD group had chronic hypoconnectivity throughout default mode-ventral attentional (salience) and default mode-somatomotor aging trajectories. Within-network somatomotor connectivity was similar between groups in childhood but diverged in adolescence with the ASD group showing decreased within-network connectivity. Network connectivity between the somatomotor network and various other functional networks had fully disrupted age-related pathways in ASD compared to TD, displaying significantly different model curvatures and fits. LIMITATIONS: The present analysis includes only male participants and has a restricted age range, limiting analysis of early development and later life aging, years 40 and beyond. Additionally, our analysis is limited to large-scale network cortical functional parcellation. To parse more specificity of brain region connectivity, a fine-grained functional parcellation including subcortical areas may be warranted. CONCLUSION: Flexible non-linear modeling minimizes statistical assumptions and allows diagnosis-related brain connections to follow independent data-driven age-related pathways. Using GAMs, we describe complex age-related pathways throughout the human connectome and observe distinct periods of divergence in autism. En ligne : https://dx.doi.org/10.1186/s13229-025-00657-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Publisher Correction: Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study / Jing LI in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 25 Titre : Publisher Correction: Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study Type de document : Texte imprimé et/ou numérique Auteurs : Jing LI, Auteur Article en page(s) : 25 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s13229-025-00661-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Publisher Correction: Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study [Texte imprimé et/ou numérique] / Jing LI, Auteur . - 25. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 25 Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s13229-025-00661-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder / Mohammed Sarfaraz NAWAZ ; Peter C KIND ; Michael A COUSIN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 26 Titre : Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Mohammed Sarfaraz NAWAZ, Auteur ; Peter C KIND, Auteur ; Michael A COUSIN, Auteur Article en page(s) : 26 Langues : Anglais (eng) Mots-clés : Animals  Endocytosis  Disease Models, Animal  Rats  Synaptic Vesicles/metabolism  Autism Spectrum Disorder/metabolism/physiopathology/genetics/pathology  Neurons/metabolism  Cells, Cultured  Exocytosis  Activity  Autism  Endocytosis  Hippocampus  Presynapse  Rat  Vesicle  performed in accordance with the UK Animal (Scientific Procedures) Act 1986,  under Project and Personal Licence authority and were approved by the Animal  Welfare and Ethical Review Body at the University of Edinburgh (Home Office  project licence - 7008878). Similarly, procedures were conducted in accordance  with protocols approved by the Institutional Animal Ethics Committee of Institute  for Stem Cell Science and Regenerative Medicine, Bangalore. Consent for  publication: Not applicable. Competing interests: Peter Kind is an Associate  Editor for Molecular Autism. Index. décimale : PER Périodiques Résumé : BACKGROUND: The key pathological mechanisms underlying autism spectrum disorder (ASD) remain relatively undetermined, potentially due to the heterogenous nature of the condition. Targeted studies of a series of monogenic ASDs have revealed postsynaptic dysfunction as a central conserved mechanism. Presynaptic dysfunction is emerging as an additional disease locus in neurodevelopmental disorders; however, it is unclear whether this dysfunction drives ASD or is an adaptation to the altered brain microenvironment. METHODS: To differentiate between these two competing scenarios, we performed a high content analysis of key stages of the synaptic vesicle lifecycle in primary neuronal cultures derived from a series of preclinical rat models of monogenic ASD. These five independent models (Nrxn1(+/-), Nlgn3(-/y), Syngap(+/-), Syngap(+/?-GAP), Pten(+/-)) were specifically selected to have perturbations in a diverse palette of genes that were expressed either at the pre- or post-synapse. Synaptic vesicle exocytosis and cargo trafficking were triggered via two discrete trains of activity and monitored using the genetically-encoded reporter synaptophysin-pHluorin. Activity-dependent bulk endocytosis was assessed during intense neuronal activity using the fluid phase marker tetramethylrhodamine-dextran. RESULTS: Both synaptic vesicle fusion events and cargo trafficking were unaffected in all models investigated under all stimulation protocols. However, a key convergent phenotype across neurons derived from all five models was revealed, a depression in activity-dependent bulk endocytosis. LIMITATIONS: The study is exclusively conducted in primary cultures of hippocampal neurons; therefore, the impact on neurons from other brain regions or altered brain microcircuitry was not assessed. No molecular mechanism has been identified for this depression. CONCLUSION: This suggests that depression of activity-dependent bulk endocytosis is a presynaptic homeostatic mechanism to correct for intrinsic dysfunction in ASD neurons. En ligne : https://dx.doi.org/10.1186/s13229-025-00660-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder [Texte imprimé et/ou numérique] / Mohammed Sarfaraz NAWAZ, Auteur ; Peter C KIND, Auteur ; Michael A COUSIN, Auteur . - 26. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 26 Mots-clés : Animals  Endocytosis  Disease Models, Animal  Rats  Synaptic Vesicles/metabolism  Autism Spectrum Disorder/metabolism/physiopathology/genetics/pathology  Neurons/metabolism  Cells, Cultured  Exocytosis  Activity  Autism  Endocytosis  Hippocampus  Presynapse  Rat  Vesicle  performed in accordance with the UK Animal (Scientific Procedures) Act 1986,  under Project and Personal Licence authority and were approved by the Animal  Welfare and Ethical Review Body at the University of Edinburgh (Home Office  project licence - 7008878). Similarly, procedures were conducted in accordance  with protocols approved by the Institutional Animal Ethics Committee of Institute  for Stem Cell Science and Regenerative Medicine, Bangalore. Consent for  publication: Not applicable. Competing interests: Peter Kind is an Associate  Editor for Molecular Autism. Index. décimale : PER Périodiques Résumé : BACKGROUND: The key pathological mechanisms underlying autism spectrum disorder (ASD) remain relatively undetermined, potentially due to the heterogenous nature of the condition. Targeted studies of a series of monogenic ASDs have revealed postsynaptic dysfunction as a central conserved mechanism. Presynaptic dysfunction is emerging as an additional disease locus in neurodevelopmental disorders; however, it is unclear whether this dysfunction drives ASD or is an adaptation to the altered brain microenvironment. METHODS: To differentiate between these two competing scenarios, we performed a high content analysis of key stages of the synaptic vesicle lifecycle in primary neuronal cultures derived from a series of preclinical rat models of monogenic ASD. These five independent models (Nrxn1(+/-), Nlgn3(-/y), Syngap(+/-), Syngap(+/?-GAP), Pten(+/-)) were specifically selected to have perturbations in a diverse palette of genes that were expressed either at the pre- or post-synapse. Synaptic vesicle exocytosis and cargo trafficking were triggered via two discrete trains of activity and monitored using the genetically-encoded reporter synaptophysin-pHluorin. Activity-dependent bulk endocytosis was assessed during intense neuronal activity using the fluid phase marker tetramethylrhodamine-dextran. RESULTS: Both synaptic vesicle fusion events and cargo trafficking were unaffected in all models investigated under all stimulation protocols. However, a key convergent phenotype across neurons derived from all five models was revealed, a depression in activity-dependent bulk endocytosis. LIMITATIONS: The study is exclusively conducted in primary cultures of hippocampal neurons; therefore, the impact on neurons from other brain regions or altered brain microcircuitry was not assessed. No molecular mechanism has been identified for this depression. CONCLUSION: This suggests that depression of activity-dependent bulk endocytosis is a presynaptic homeostatic mechanism to correct for intrinsic dysfunction in ASD neurons. En ligne : https://dx.doi.org/10.1186/s13229-025-00660-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth / Trey MCGONIGLE ; Rachael A MUSCATELLO ; Simon VANDEKAR ; Rachel CALVOSA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 27 Titre : The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth Type de document : Texte imprimé et/ou numérique Auteurs : Trey MCGONIGLE, Auteur ; Rachael A MUSCATELLO, Auteur ; Simon VANDEKAR, Auteur ; Rachel CALVOSA, Auteur Article en page(s) : 27 Langues : Anglais (eng) Mots-clés : Humans  Testosterone/metabolism  Female  Male  Hydrocortisone/metabolism  Adolescent  Child  Saliva/metabolism/chemistry  Longitudinal Studies  Autism Spectrum Disorder/metabolism  Autistic Disorder/metabolism  Autism  Cortisol  HPA axis  Hpg  Hormones  Puberty  Testosterone  carried out in accordance with the Code of Ethics of the World Medical  Association (Declaration of Helsinki). The Vanderbilt Institutional Review Board  approved the study. Prior to inclusion in the study, informed written consent and  assent were obtained from all parents and study participants, respectively.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Behavioral endocrinology examines associations between hormone expression, such as testosterone and cortisol, and behavior; both of which have been implicated in autism spectrum disorder (ASD). The overarching aim of the study was to examine the intersection of sex-based (Male, Female), hormonal (testosterone, cortisol), diagnostic (ASD, typically developing, (TD)) and developmental (age, puberty) patterns over four years of a longitudinal study in a well-characterized sample of youth (spanning 10 to 17 years). METHODS: In year 1 (Y1), participants included 140 autistic youth (36 females, 104 males) and 105 TD youth (46 females, 59 males.). For Y4, participants included 83 ASD and 77 TD youth. Immediate waking morning salivary samples were collected for hormone assay. Mixed effects and ordinary linear regression models were used, as well as mediation effects of hormones on behavior. RESULTS: For cortisol, there was a significant diagnosis by sex by age interaction (X(2) = 15.62, df = 3, p = 0.0014, S = 0.2446) showing that autistic females evidence higher morning cortisol that increased over developmental progression compared to TD females. Moreover, ASD males had stunted testosterone growth compared to TD males (Est = 0.1530, p = 0.0130). Regarding biobehavioral associations in year 1, diagnosis (X(2) = 80.72, df = 1, p < 0.0001, S = 0.5704) and cortisol (X(2) = 14.42, df = 3, p = 0.0024, S = 0.2159) were associated with social problems; however, there were no effects for testosterone on diagnosis or a mediation effect on social problems. There was a significant effect of diagnosis on CBCL Aggression score (X(2) = 34.39, df = 1, p < 0.0001, S = 0.3692) independent of hormonal measurements. LIMITATIONS: Despite the large sample, it was not fully representative based on race, ethnicity or intellectual profile. Attrition of the sample is also acknowledged especially between portions of Y2 and Y3 due to the COVID-19 pandemic. Finally, only the immediate morning salivary samples were used due to lower and undetectable concentration levels of testosterone in younger and female children. CONCLUSIONS: Collectively, these findings underscore the need to elucidate the biobehavioral patterns that emerge during the complex adolescent transition for autistic youth to determine how they impact clinical and long-term outcomes. The unique hormonal trajectories may be related to differences in advanced pubertal progression and affective states found in autistic females. En ligne : https://dx.doi.org/10.1186/s13229-025-00658-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth [Texte imprimé et/ou numérique] / Trey MCGONIGLE, Auteur ; Rachael A MUSCATELLO, Auteur ; Simon VANDEKAR, Auteur ; Rachel CALVOSA, Auteur . - 27. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 27 Mots-clés : Humans  Testosterone/metabolism  Female  Male  Hydrocortisone/metabolism  Adolescent  Child  Saliva/metabolism/chemistry  Longitudinal Studies  Autism Spectrum Disorder/metabolism  Autistic Disorder/metabolism  Autism  Cortisol  HPA axis  Hpg  Hormones  Puberty  Testosterone  carried out in accordance with the Code of Ethics of the World Medical  Association (Declaration of Helsinki). The Vanderbilt Institutional Review Board  approved the study. Prior to inclusion in the study, informed written consent and  assent were obtained from all parents and study participants, respectively.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Behavioral endocrinology examines associations between hormone expression, such as testosterone and cortisol, and behavior; both of which have been implicated in autism spectrum disorder (ASD). The overarching aim of the study was to examine the intersection of sex-based (Male, Female), hormonal (testosterone, cortisol), diagnostic (ASD, typically developing, (TD)) and developmental (age, puberty) patterns over four years of a longitudinal study in a well-characterized sample of youth (spanning 10 to 17 years). METHODS: In year 1 (Y1), participants included 140 autistic youth (36 females, 104 males) and 105 TD youth (46 females, 59 males.). For Y4, participants included 83 ASD and 77 TD youth. Immediate waking morning salivary samples were collected for hormone assay. Mixed effects and ordinary linear regression models were used, as well as mediation effects of hormones on behavior. RESULTS: For cortisol, there was a significant diagnosis by sex by age interaction (X(2) = 15.62, df = 3, p = 0.0014, S = 0.2446) showing that autistic females evidence higher morning cortisol that increased over developmental progression compared to TD females. Moreover, ASD males had stunted testosterone growth compared to TD males (Est = 0.1530, p = 0.0130). Regarding biobehavioral associations in year 1, diagnosis (X(2) = 80.72, df = 1, p < 0.0001, S = 0.5704) and cortisol (X(2) = 14.42, df = 3, p = 0.0024, S = 0.2159) were associated with social problems; however, there were no effects for testosterone on diagnosis or a mediation effect on social problems. There was a significant effect of diagnosis on CBCL Aggression score (X(2) = 34.39, df = 1, p < 0.0001, S = 0.3692) independent of hormonal measurements. LIMITATIONS: Despite the large sample, it was not fully representative based on race, ethnicity or intellectual profile. Attrition of the sample is also acknowledged especially between portions of Y2 and Y3 due to the COVID-19 pandemic. Finally, only the immediate morning salivary samples were used due to lower and undetectable concentration levels of testosterone in younger and female children. CONCLUSIONS: Collectively, these findings underscore the need to elucidate the biobehavioral patterns that emerge during the complex adolescent transition for autistic youth to determine how they impact clinical and long-term outcomes. The unique hormonal trajectories may be related to differences in advanced pubertal progression and affective states found in autistic females. En ligne : https://dx.doi.org/10.1186/s13229-025-00658-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood / Molly PRIGGE ; Andrew ALEXANDER ; Brandon ZIELINSKI ; Janet LAINHART ; Jace KING in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 28 Titre : Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood Type de document : Texte imprimé et/ou numérique Auteurs : Molly PRIGGE, Auteur ; Andrew ALEXANDER, Auteur ; Brandon ZIELINSKI, Auteur ; Janet LAINHART, Auteur ; Jace KING, Auteur Article en page(s) : 28 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s13229-025-00662-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood [Texte imprimé et/ou numérique] / Molly PRIGGE, Auteur ; Andrew ALEXANDER, Auteur ; Brandon ZIELINSKI, Auteur ; Janet LAINHART, Auteur ; Jace KING, Auteur . - 28. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 28 Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s13229-025-00662-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555