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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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 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] / 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

A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults / Bianca A. SCHUSTER in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 29 Titre : A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults Type de document : texte imprimé Auteurs : Bianca A. SCHUSTER, Auteur ; Y. OKAMOTO, Auteur ; T. TAKAHASHI, Auteur ; Y. KURIHARA, Auteur ; C. T. KEATING, Auteur ; J. L. COOK, Auteur ; H. KOSAKA, Auteur ; M. IDE, Auteur ; H. NARUSE, Auteur ; C. KRAAIJKAMP, Auteur ; R. OSU, Auteur ; Bianca A. Secondary SCHUSTER, Auteur ; Y. OKAMOTO, Auteur ; T. TAKAHASHI, Auteur ; Y. KURIHARA, Auteur ; C. T. KEATING, Auteur ; J. L. COOK, Auteur ; H. KOSAKA, Auteur ; M. IDE, Auteur ; H. NARUSE, Auteur ; C. KRAAIJKAMP, Auteur ; R. OSU, Auteur Article en page(s) : 29 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Adult  Cross-Cultural Comparison  Autistic Disorder/psychology  Young Adult  Theory of Mind  Mentalization  United Kingdom  Japan  Middle Aged  Adolescent  Autism  Collectivist  Cross-cultural  Cross-neurotype  Double empathy  Individualist  Mentalising  Movement differences  Theory of mind  Uk Index. décimale : PER Périodiques Résumé : BACKGROUND: So-called 'mismatch accounts' propose that, rather than arising from a socio-cognitive deficit present in autistic people, mentalising difficulties are the product of a mismatch in neurotype between interaction partners. Although this idea has grown in popularity over recent years, there is currently only limited empirical evidence to support mismatch theories. Moreover, the social model of disability such theories are grounded in demands a culturally situated view of social interaction, yet research on mentalising and/or autism is largely biased towards Western countries, with little knowledge on how successful mentalising is defined differently, and how tools to assess socio-cognitive ability compare, across cultures. METHODS: Using a widely employed mentalising task-the animations task-, the current study investigated and compared the bi-directional mentalising performance of British and Japanese autistic and non-autistic adults and assessed observer-agent kinematic similarity as a potential dimension along which mismatches may occur between neurotypes. Participants were asked to depict various mental state- and action-based interactions by moving two triangles across a touch-screen device before viewing and interpreting stimuli generated by other participants. RESULTS: In the UK sample, our results replicate a seminal prior study in showing poorer mentalising abilities in non-autistic adults for animations generated by the autistic group. Crucially, the same pattern did not emerge in the Japanese sample, where there were no mentalising differences between the two groups. LIMITATIONS: Limitations of the current study include that efforts to match all samples within and across cultures in terms of IQ, gender, and age were not successful in all comparisons, but control analyses suggest this did not affect our results. Furthermore, any performance differences were found for both the mental state- and action-based conditions, mirroring prior work and raising questions about the domain-specificity of the employed task. CONCLUSIONS: Our results add support for a paradigm shift in the autism literature, moving beyond deficit-based models and towards acknowledging the inherently relational nature of social interaction. We further discuss how our findings suggest limited cultural transferability of common socio-cognitive measures rather than superior mentalising abilities in Japanese autistic adults, underscoring the need for more cross-cultural research and the development of culturally sensitive scientific and diagnostic tools. En ligne : https://dx.doi.org/10.1186/s13229-025-00659-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults [texte imprimé] / Bianca A. SCHUSTER, Auteur ; Y. OKAMOTO, Auteur ; T. TAKAHASHI, Auteur ; Y. KURIHARA, Auteur ; C. T. KEATING, Auteur ; J. L. COOK, Auteur ; H. KOSAKA, Auteur ; M. IDE, Auteur ; H. NARUSE, Auteur ; C. KRAAIJKAMP, Auteur ; R. OSU, Auteur ; Bianca A. Secondary SCHUSTER, Auteur ; Y. OKAMOTO, Auteur ; T. TAKAHASHI, Auteur ; Y. KURIHARA, Auteur ; C. T. KEATING, Auteur ; J. L. COOK, Auteur ; H. KOSAKA, Auteur ; M. IDE, Auteur ; H. NARUSE, Auteur ; C. KRAAIJKAMP, Auteur ; R. OSU, Auteur . - 29. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 29 Mots-clés : Humans  Male  Female  Adult  Cross-Cultural Comparison  Autistic Disorder/psychology  Young Adult  Theory of Mind  Mentalization  United Kingdom  Japan  Middle Aged  Adolescent  Autism  Collectivist  Cross-cultural  Cross-neurotype  Double empathy  Individualist  Mentalising  Movement differences  Theory of mind  Uk Index. décimale : PER Périodiques Résumé : BACKGROUND: So-called 'mismatch accounts' propose that, rather than arising from a socio-cognitive deficit present in autistic people, mentalising difficulties are the product of a mismatch in neurotype between interaction partners. Although this idea has grown in popularity over recent years, there is currently only limited empirical evidence to support mismatch theories. Moreover, the social model of disability such theories are grounded in demands a culturally situated view of social interaction, yet research on mentalising and/or autism is largely biased towards Western countries, with little knowledge on how successful mentalising is defined differently, and how tools to assess socio-cognitive ability compare, across cultures. METHODS: Using a widely employed mentalising task-the animations task-, the current study investigated and compared the bi-directional mentalising performance of British and Japanese autistic and non-autistic adults and assessed observer-agent kinematic similarity as a potential dimension along which mismatches may occur between neurotypes. Participants were asked to depict various mental state- and action-based interactions by moving two triangles across a touch-screen device before viewing and interpreting stimuli generated by other participants. RESULTS: In the UK sample, our results replicate a seminal prior study in showing poorer mentalising abilities in non-autistic adults for animations generated by the autistic group. Crucially, the same pattern did not emerge in the Japanese sample, where there were no mentalising differences between the two groups. LIMITATIONS: Limitations of the current study include that efforts to match all samples within and across cultures in terms of IQ, gender, and age were not successful in all comparisons, but control analyses suggest this did not affect our results. Furthermore, any performance differences were found for both the mental state- and action-based conditions, mirroring prior work and raising questions about the domain-specificity of the employed task. CONCLUSIONS: Our results add support for a paradigm shift in the autism literature, moving beyond deficit-based models and towards acknowledging the inherently relational nature of social interaction. We further discuss how our findings suggest limited cultural transferability of common socio-cognitive measures rather than superior mentalising abilities in Japanese autistic adults, underscoring the need for more cross-cultural research and the development of culturally sensitive scientific and diagnostic tools. En ligne : https://dx.doi.org/10.1186/s13229-025-00659-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders / Constantinos ELEFTHERIOU in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 30 Titre : Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders Type de document : texte imprimé Auteurs : Constantinos ELEFTHERIOU, Auteur ; Sarah GIACHETTI, Auteur ; Raven HICKSON, Auteur ; Laura KAMNIOTI-DUMONT, Auteur ; Robert TEMPLAAR, Auteur ; Alina AALTONEN, Auteur ; Eleni TSOUKALA, Auteur ; Nawon KIM, Auteur ; Lysandra FRYER-PETRIDIS, Auteur ; Chloe HENLEY, Auteur ; Ceren ERDEM, Auteur ; Emma WILSON, Auteur ; Beatriz MAIO, Auteur ; Jingjing YE, Auteur ; Jessica C. PIERCE, Auteur ; Kath MAZUR, Auteur ; Lucia LANDA-NAVARRO, Auteur ; Nina G. PETROVIĆ, Auteur ; Sarah BENDOVA, Auteur ; Hanan WOODS, Auteur ; Manuela RIZZI, Auteur ; Vanesa SALAZAR-SANCHEZ, Auteur ; Natasha ANSTEY, Auteur ; Antonios ASIMINAS, Auteur ; Shinjini BASU, Auteur ; Sam A. BOOKER, Auteur ; Anjanette HARRIS, Auteur ; Sam HEYES, Auteur ; Adam JACKSON, Auteur ; Alex CROCKER-BUQUE, Auteur ; Aoife C. MCMAHON, Auteur ; Sally M. TILL, Auteur ; Lasani S. WIJETUNGE, Auteur ; David Ja WYLLIE, Auteur ; Catherine M. ABBOTT, Auteur ; Timothy O'LEARY, Auteur ; Peter C. KIND, Auteur ; Constantinos Secondary ELEFTHERIOU, Auteur ; Sarah GIACHETTI, Auteur ; Raven HICKSON, Auteur ; Laura KAMNIOTI-DUMONT, Auteur ; Robert TEMPLAAR, Auteur ; Alina AALTONEN, Auteur ; Eleni TSOUKALA, Auteur ; Nawon KIM, Auteur ; Lysandra FRYER-PETRIDIS, Auteur ; Chloe HENLEY, Auteur ; Ceren ERDEM, Auteur ; Emma WILSON, Auteur ; Beatriz MAIO, Auteur ; Jingjing YE, Auteur ; Jessica C. PIERCE, Auteur ; Kath MAZUR, Auteur ; Lucia LANDA-NAVARRO, Auteur ; Nina G. PETROVIĆ, Auteur ; Sarah BENDOVA, Auteur ; Hanan WOODS, Auteur ; Manuela RIZZI, Auteur ; Vanesa SALAZAR-SANCHEZ, Auteur ; Natasha ANSTEY, Auteur ; Antonios ASIMINAS, Auteur ; Shinjini BASU, Auteur ; Sam A. BOOKER, Auteur ; Anjanette HARRIS, Auteur ; Sam HEYES, Auteur ; Adam JACKSON, Auteur ; Alex CROCKER-BUQUE, Auteur ; Aoife C. MCMAHON, Auteur ; Sally M. TILL, Auteur ; Lasani S. WIJETUNGE, Auteur ; David Ja WYLLIE, Auteur ; Catherine M. ABBOTT, Auteur ; Timothy O'LEARY, Auteur ; Peter C. KIND, Auteur Article en page(s) : 30 Langues : Anglais (eng) Mots-clés : Animals  Mice  Disease Models, Animal  Nervous System Diseases  Research Design  Animal models  Autism  Fragile X  Pseudoreplication  Statistics  for publication: Not applicable. Competing interests: Peter Kind is an Associate  Editor for Molecular Autism. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Accurately determining the sample size ("N") of a dataset is a key consideration for experimental design. Misidentification of sample size can lead to pseudoreplication, a process of artificially inflating the number of experimental replicates which systematically underestimates variability, overestimates effect sizes and invalidates statistical tests performed on the data. While many journals have adopted stringent requirements with regard to statistical reporting over the last decade, it remains unknown whether such efforts have had a meaningful impact on statistical rigour. METHODS: Here, we evaluated the prevalence of this type of statistical error among neuroscience studies involving animal models of Fragile-X Syndrome (FXS) and those using animal models of neurological disorders at large published between 2001 and 2024. RESULTS: We found that pseudoreplication was present in the majority of publication, increasing over time despite marked improvements in statistical reporting over the last decade. This trend generalised beyond the FXS literature to rodent studies of neurological disorders at large between 2012 and 2024, suggesting that pseudoreplication remains a widespread issue in the literature. LIMITATIONS: The scope of this study was limited to rodent-model studies of neurological disorders which had the potential for being pseudoreplicated, by allowing repeat observations from individual animals. We did not consider reviews or articles whose experimental design could not allow for pseudoreplication, for example studies which reported only behavioural results, or studies which did not use inferential statistics. CONCLUSIONS: These observations identify an urgent need for better standards in experimental design and increased vigilance for this type of error during peer review. While reporting standards have significantly improved over the past two decades, this alone has not been enough to curb the prevalence of pseudoreplication. We offer suggestions for how this can be remedied as well as quantifying the severity of this particular type of statistical error. Although the examined literature concerns a specific neuroscience-related area of research, the implications of pseudoreplication apply to all fields of empirical research. En ligne : https://dx.doi.org/10.1186/s13229-025-00663-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders [texte imprimé] / Constantinos ELEFTHERIOU, Auteur ; Sarah GIACHETTI, Auteur ; Raven HICKSON, Auteur ; Laura KAMNIOTI-DUMONT, Auteur ; Robert TEMPLAAR, Auteur ; Alina AALTONEN, Auteur ; Eleni TSOUKALA, Auteur ; Nawon KIM, Auteur ; Lysandra FRYER-PETRIDIS, Auteur ; Chloe HENLEY, Auteur ; Ceren ERDEM, Auteur ; Emma WILSON, Auteur ; Beatriz MAIO, Auteur ; Jingjing YE, Auteur ; Jessica C. PIERCE, Auteur ; Kath MAZUR, Auteur ; Lucia LANDA-NAVARRO, Auteur ; Nina G. PETROVIĆ, Auteur ; Sarah BENDOVA, Auteur ; Hanan WOODS, Auteur ; Manuela RIZZI, Auteur ; Vanesa SALAZAR-SANCHEZ, Auteur ; Natasha ANSTEY, Auteur ; Antonios ASIMINAS, Auteur ; Shinjini BASU, Auteur ; Sam A. BOOKER, Auteur ; Anjanette HARRIS, Auteur ; Sam HEYES, Auteur ; Adam JACKSON, Auteur ; Alex CROCKER-BUQUE, Auteur ; Aoife C. MCMAHON, Auteur ; Sally M. TILL, Auteur ; Lasani S. WIJETUNGE, Auteur ; David Ja WYLLIE, Auteur ; Catherine M. ABBOTT, Auteur ; Timothy O'LEARY, Auteur ; Peter C. KIND, Auteur ; Constantinos Secondary ELEFTHERIOU, Auteur ; Sarah GIACHETTI, Auteur ; Raven HICKSON, Auteur ; Laura KAMNIOTI-DUMONT, Auteur ; Robert TEMPLAAR, Auteur ; Alina AALTONEN, Auteur ; Eleni TSOUKALA, Auteur ; Nawon KIM, Auteur ; Lysandra FRYER-PETRIDIS, Auteur ; Chloe HENLEY, Auteur ; Ceren ERDEM, Auteur ; Emma WILSON, Auteur ; Beatriz MAIO, Auteur ; Jingjing YE, Auteur ; Jessica C. PIERCE, Auteur ; Kath MAZUR, Auteur ; Lucia LANDA-NAVARRO, Auteur ; Nina G. PETROVIĆ, Auteur ; Sarah BENDOVA, Auteur ; Hanan WOODS, Auteur ; Manuela RIZZI, Auteur ; Vanesa SALAZAR-SANCHEZ, Auteur ; Natasha ANSTEY, Auteur ; Antonios ASIMINAS, Auteur ; Shinjini BASU, Auteur ; Sam A. BOOKER, Auteur ; Anjanette HARRIS, Auteur ; Sam HEYES, Auteur ; Adam JACKSON, Auteur ; Alex CROCKER-BUQUE, Auteur ; Aoife C. MCMAHON, Auteur ; Sally M. TILL, Auteur ; Lasani S. WIJETUNGE, Auteur ; David Ja WYLLIE, Auteur ; Catherine M. ABBOTT, Auteur ; Timothy O'LEARY, Auteur ; Peter C. KIND, Auteur . - 30. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 30 Mots-clés : Animals  Mice  Disease Models, Animal  Nervous System Diseases  Research Design  Animal models  Autism  Fragile X  Pseudoreplication  Statistics  for publication: Not applicable. Competing interests: Peter Kind is an Associate  Editor for Molecular Autism. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Accurately determining the sample size ("N") of a dataset is a key consideration for experimental design. Misidentification of sample size can lead to pseudoreplication, a process of artificially inflating the number of experimental replicates which systematically underestimates variability, overestimates effect sizes and invalidates statistical tests performed on the data. While many journals have adopted stringent requirements with regard to statistical reporting over the last decade, it remains unknown whether such efforts have had a meaningful impact on statistical rigour. METHODS: Here, we evaluated the prevalence of this type of statistical error among neuroscience studies involving animal models of Fragile-X Syndrome (FXS) and those using animal models of neurological disorders at large published between 2001 and 2024. RESULTS: We found that pseudoreplication was present in the majority of publication, increasing over time despite marked improvements in statistical reporting over the last decade. This trend generalised beyond the FXS literature to rodent studies of neurological disorders at large between 2012 and 2024, suggesting that pseudoreplication remains a widespread issue in the literature. LIMITATIONS: The scope of this study was limited to rodent-model studies of neurological disorders which had the potential for being pseudoreplicated, by allowing repeat observations from individual animals. We did not consider reviews or articles whose experimental design could not allow for pseudoreplication, for example studies which reported only behavioural results, or studies which did not use inferential statistics. CONCLUSIONS: These observations identify an urgent need for better standards in experimental design and increased vigilance for this type of error during peer review. While reporting standards have significantly improved over the past two decades, this alone has not been enough to curb the prevalence of pseudoreplication. We offer suggestions for how this can be remedied as well as quantifying the severity of this particular type of statistical error. Although the examined literature concerns a specific neuroscience-related area of research, the implications of pseudoreplication apply to all fields of empirical research. En ligne : https://dx.doi.org/10.1186/s13229-025-00663-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults / Ayaka FUKUOKA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 31 Titre : Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults Type de document : texte imprimé Auteurs : Ayaka FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur ; Ayaka Secondary FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur Article en page(s) : 31 Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Adult  Emotions  Autism Spectrum Disorder/psychology  Middle Aged  Touch  Young Adult  Interpersonal Relations  Autistic Disorder/psychology  Social Behavior  Object Attachment  Emotion  Pleasantness  Social closeness  Social network  Social touch  approved by The Research Ethics Committee of University of Fukui (20210117), and  the Research Ethics Committee at the Graduate School of Intercultural Studies,  Kobe University (2021–2, 2022–4). All methods were carried out in accordance with  the approved guidelines and the Declaration of Helsinki. Each participant in the  main study provided written informed consent after receiving a detailed  explanation of the study, and each participant in the pilot experiment provided  online informed consent. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication deficits, repetitive behaviors and restricted interests. Studies have reported aberrant sensory responses, including altered experiences of social touch, in individuals with ASD. However, the relationship between atypical social touch and social networks in ASD remains poorly understood. Social touch is used to strengthen and manage social networks in many species. Studies in general populations across diverse cultures show that the extent of permissible touch is consistently linked to the strength of emotional bonds between the toucher and the touched individual. This study examined relationship-specific patterns of social touch and their association with emotional bonding in individuals with ASD. METHODS: Seventy adults with ASD and 70 typically developed (TD) adults rated their emotional bonds with different social network members (e.g., partners, fathers, strangers) and the pleasantness of being touched by each. Participants also identified body regions where they allowed touch. We hypothesized that patterns of interpersonal touch allowance and emotional bonding, and their relationship, would differ between ASD and TD adults. RESULT: In all social network members except children and female friends, ASD adults allowed significantly less social touching than TD adults. Compared to TD adults, ASD adults also reported having significantly weaker emotional bonds with one social network member and experiencing significantly less pleasantness when touched by multiple members of their social network. In both groups, strength of emotional bond was significantly correlated with permissible touch area. Linear regression analyses showed that our ASD participants were more reliant on bodily touch allowance for emotional bonding than the TD controls. LIMITATIONS: More participants are necessary to secure sufficient number of social network members in ASD. CONCLUSIONS: Our results suggest that adults with ASD generally prefer less social touch from most social network members and show reduced emotional bonding with only a specific connection. In addition, touch allowance was more strongly associated with emotional bonding in ASD than TD adults. These findings highlight the influence of autistic traits on the relationship between social touch and emotional bonding within social networks. En ligne : https://dx.doi.org/10.1186/s13229-025-00666-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults [texte imprimé] / Ayaka FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur ; Ayaka Secondary FUKUOKA, Auteur ; Ryo KITADA, Auteur ; Kai MAKITA, Auteur ; Takuya MAKINO, Auteur ; Nodoka SAKAKIHARA, Auteur ; Lauri NUMMENMAA, Auteur ; Hirotaka KOSAKA, Auteur . - 31. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 31 Mots-clés : Humans  Female  Male  Adult  Emotions  Autism Spectrum Disorder/psychology  Middle Aged  Touch  Young Adult  Interpersonal Relations  Autistic Disorder/psychology  Social Behavior  Object Attachment  Emotion  Pleasantness  Social closeness  Social network  Social touch  approved by The Research Ethics Committee of University of Fukui (20210117), and  the Research Ethics Committee at the Graduate School of Intercultural Studies,  Kobe University (2021–2, 2022–4). All methods were carried out in accordance with  the approved guidelines and the Declaration of Helsinki. Each participant in the  main study provided written informed consent after receiving a detailed  explanation of the study, and each participant in the pilot experiment provided  online informed consent. Competing interests: The authors declare no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication deficits, repetitive behaviors and restricted interests. Studies have reported aberrant sensory responses, including altered experiences of social touch, in individuals with ASD. However, the relationship between atypical social touch and social networks in ASD remains poorly understood. Social touch is used to strengthen and manage social networks in many species. Studies in general populations across diverse cultures show that the extent of permissible touch is consistently linked to the strength of emotional bonds between the toucher and the touched individual. This study examined relationship-specific patterns of social touch and their association with emotional bonding in individuals with ASD. METHODS: Seventy adults with ASD and 70 typically developed (TD) adults rated their emotional bonds with different social network members (e.g., partners, fathers, strangers) and the pleasantness of being touched by each. Participants also identified body regions where they allowed touch. We hypothesized that patterns of interpersonal touch allowance and emotional bonding, and their relationship, would differ between ASD and TD adults. RESULT: In all social network members except children and female friends, ASD adults allowed significantly less social touching than TD adults. Compared to TD adults, ASD adults also reported having significantly weaker emotional bonds with one social network member and experiencing significantly less pleasantness when touched by multiple members of their social network. In both groups, strength of emotional bond was significantly correlated with permissible touch area. Linear regression analyses showed that our ASD participants were more reliant on bodily touch allowance for emotional bonding than the TD controls. LIMITATIONS: More participants are necessary to secure sufficient number of social network members in ASD. CONCLUSIONS: Our results suggest that adults with ASD generally prefer less social touch from most social network members and show reduced emotional bonding with only a specific connection. In addition, touch allowance was more strongly associated with emotional bonding in ASD than TD adults. These findings highlight the influence of autistic traits on the relationship between social touch and emotional bonding within social networks. En ligne : https://dx.doi.org/10.1186/s13229-025-00666-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years / Ammal M. METWALLY in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 32 Titre : Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years Type de document : texte imprimé Auteurs : Ammal M. METWALLY, Auteur ; Ebtissam M. SALAH EL-DIN, Auteur ; Samia M. SAMI, Auteur ; Ehab R. ABDELRAOUF, Auteur ; Sara F. SALLAM, Auteur ; Amal ELSAEID, Auteur ; Mostafa M. EL-SAIED, Auteur ; Engy A. ASHAAT, Auteur ; Asmaa M. FATHY, Auteur ; Hazem M. EL-HARIRI, Auteur ; Ghada A. ELSHAARAWY, Auteur ; Maysa S. NASSAR, Auteur ; Manal A. SHEHATA, Auteur ; Inas R. EL-ALAMEEY, Auteur ; Randa I. BASSIOUNI, Auteur ; Mohamed H. ABDOU, Auteur ; Mona A. HELMY, Auteur ; Nahed A. ELGHAREEB, Auteur ; Mohamed ABDALLAH, Auteur ; Thanaa M. RABAH, Auteur ; Somia I. SALAMA, Auteur ; Rehan M. SALEH, Auteur ; Lobna A. EL ETREBY, Auteur ; Dalia M. ELMOSALAMI, Auteur ; Eman ELTAHLAWY, Auteur ; Dina Abu ZEID, Auteur ; Ammal M. Secondary METWALLY, Auteur ; Ebtissam M. SALAH EL-DIN, Auteur ; Samia M. SAMI, Auteur ; Ehab R. ABDELRAOUF, Auteur ; Sara F. SALLAM, Auteur ; Amal ELSAEID, Auteur ; Mostafa M. EL-SAIED, Auteur ; Engy A. ASHAAT, Auteur ; Asmaa M. FATHY, Auteur ; Hazem M. EL-HARIRI, Auteur ; Ghada A. ELSHAARAWY, Auteur ; Maysa S. NASSAR, Auteur ; Manal A. SHEHATA, Auteur ; Inas R. EL-ALAMEEY, Auteur ; Randa I. BASSIOUNI, Auteur ; Mohamed H. ABDOU, Auteur ; Mona A. HELMY, Auteur ; Nahed A. ELGHAREEB, Auteur ; Mohamed ABDALLAH, Auteur ; Thanaa M. RABAH, Auteur ; Somia I. SALAMA, Auteur ; Rehan M. SALEH, Auteur ; Lobna A. EL ETREBY, Auteur ; Dalia M. ELMOSALAMI, Auteur ; Eman ELTAHLAWY, Auteur ; Dina Abu ZEID, Auteur Article en page(s) : 32 Langues : Anglais (eng) Mots-clés : Humans  Egypt/epidemiology  Female  Male  Child, Preschool  Prevalence  Risk Factors  Infant  Child  Severity of Illness Index  Autism Spectrum Disorder/epidemiology/diagnosis  Autistic Disorder/epidemiology/diagnosis  Autism spectrum disorder  National survey  Severity  after getting the approval of the Medical Research Ethics Committee of the  National Research Centre with an ethical approval number of 17034. Written  informed consent was taken from the parents/guardians of all children enrolled in  the study. For participants who were unable to write, a right thumbprint was used  as a signature. The study was fully voluntary, and data was collected in a  confidential manner. Data were de-identified and stored in a safe location. The  conduct of the study complied with the International Ethical Guidelines for  Biomedical Research Involving Human Subjects [132]. The information disclosure  for “Making sure parents/guardians understand” was guaranteed according to the  recommendations of the Egyptian patients and guardians’ perception that clinical  informed consent is the preferred purpose for Informed Consent practices [133]  CConsent for publication: Not applicable. Competing interests: All authors report  no conflict of interest. “No financial or non-financial benefits have been  received or will be received from any party related directly or indirectly to the  subject of this manuscript. Index. décimale : PER Périodiques Résumé : BACKGROUND: The prevalence of autism spectrum disorder (ASD), a common developmental disorder, has surged in recent years. Accordingly, the identification and early management of possible risk factors can diminish ASD incidence. AIM: To determine the prevalence and severity of idiopathic ASD in Egyptian children aged 12 months to 12 years, and to identify the epidemiological, sociodemographic, and environmental risk factors contributing to this disorder. METHODS: This study comprised 41,640 children from the main eight geographic areas in Egypt. It was conducted through four phases: household screening, facility-based screening for high-risk children, diagnosis confirmation, and risk factor assessment. RESULTS: The prevalence of ASD as confirmed by the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Childhood Autism Rating Scale (CARS) was 1.1% (455 out of 41,640), with significant geographic variability. Urban areas had a significantly higher prevalence than rural areas. Children aged 3-6 years showed the highest prevalence at 1.5%. Boys were four times more affected than girls, with prevalence rates of 1.7% and 0.4%, respectively. Significant risk factors included: a history of convulsions (AOR = 4.7; 95% CI: 3.3-6.79), low birth weight (AOR = 2.08; 95% CI: 1.54-2.79), prolonged stays in neonatal intensive care unit (NICU) longer than two days (AOR = 1.91; 95% CI: 1.46-2.49) and maternal health problems during pregnancy (AOR = 1.66; 95% CI:1.36-1.95). Regarding severity, 45% of diagnosed children had moderate ASD, 39% had severe ASD, and 16% had mild ASD. Female gender and older age were significant predictors of greater ASD severity. CONCLUSION: ASD prevalence in Egypt is comparable to other Middle Eastern countries. Policymakers should utilize these findings to design targeted public health interventions aimed at early detection, management, and prevention of ASD progression. En ligne : https://dx.doi.org/10.1186/s13229-025-00665-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years [texte imprimé] / Ammal M. METWALLY, Auteur ; Ebtissam M. SALAH EL-DIN, Auteur ; Samia M. SAMI, Auteur ; Ehab R. ABDELRAOUF, Auteur ; Sara F. SALLAM, Auteur ; Amal ELSAEID, Auteur ; Mostafa M. EL-SAIED, Auteur ; Engy A. ASHAAT, Auteur ; Asmaa M. FATHY, Auteur ; Hazem M. EL-HARIRI, Auteur ; Ghada A. ELSHAARAWY, Auteur ; Maysa S. NASSAR, Auteur ; Manal A. SHEHATA, Auteur ; Inas R. EL-ALAMEEY, Auteur ; Randa I. BASSIOUNI, Auteur ; Mohamed H. ABDOU, Auteur ; Mona A. HELMY, Auteur ; Nahed A. ELGHAREEB, Auteur ; Mohamed ABDALLAH, Auteur ; Thanaa M. RABAH, Auteur ; Somia I. SALAMA, Auteur ; Rehan M. SALEH, Auteur ; Lobna A. EL ETREBY, Auteur ; Dalia M. ELMOSALAMI, Auteur ; Eman ELTAHLAWY, Auteur ; Dina Abu ZEID, Auteur ; Ammal M. Secondary METWALLY, Auteur ; Ebtissam M. SALAH EL-DIN, Auteur ; Samia M. SAMI, Auteur ; Ehab R. ABDELRAOUF, Auteur ; Sara F. SALLAM, Auteur ; Amal ELSAEID, Auteur ; Mostafa M. EL-SAIED, Auteur ; Engy A. ASHAAT, Auteur ; Asmaa M. FATHY, Auteur ; Hazem M. EL-HARIRI, Auteur ; Ghada A. ELSHAARAWY, Auteur ; Maysa S. NASSAR, Auteur ; Manal A. SHEHATA, Auteur ; Inas R. EL-ALAMEEY, Auteur ; Randa I. BASSIOUNI, Auteur ; Mohamed H. ABDOU, Auteur ; Mona A. HELMY, Auteur ; Nahed A. ELGHAREEB, Auteur ; Mohamed ABDALLAH, Auteur ; Thanaa M. RABAH, Auteur ; Somia I. SALAMA, Auteur ; Rehan M. SALEH, Auteur ; Lobna A. EL ETREBY, Auteur ; Dalia M. ELMOSALAMI, Auteur ; Eman ELTAHLAWY, Auteur ; Dina Abu ZEID, Auteur . - 32. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 32 Mots-clés : Humans  Egypt/epidemiology  Female  Male  Child, Preschool  Prevalence  Risk Factors  Infant  Child  Severity of Illness Index  Autism Spectrum Disorder/epidemiology/diagnosis  Autistic Disorder/epidemiology/diagnosis  Autism spectrum disorder  National survey  Severity  after getting the approval of the Medical Research Ethics Committee of the  National Research Centre with an ethical approval number of 17034. Written  informed consent was taken from the parents/guardians of all children enrolled in  the study. For participants who were unable to write, a right thumbprint was used  as a signature. The study was fully voluntary, and data was collected in a  confidential manner. Data were de-identified and stored in a safe location. The  conduct of the study complied with the International Ethical Guidelines for  Biomedical Research Involving Human Subjects [132]. The information disclosure  for “Making sure parents/guardians understand” was guaranteed according to the  recommendations of the Egyptian patients and guardians’ perception that clinical  informed consent is the preferred purpose for Informed Consent practices [133]  CConsent for publication: Not applicable. Competing interests: All authors report  no conflict of interest. “No financial or non-financial benefits have been  received or will be received from any party related directly or indirectly to the  subject of this manuscript. Index. décimale : PER Périodiques Résumé : BACKGROUND: The prevalence of autism spectrum disorder (ASD), a common developmental disorder, has surged in recent years. Accordingly, the identification and early management of possible risk factors can diminish ASD incidence. AIM: To determine the prevalence and severity of idiopathic ASD in Egyptian children aged 12 months to 12 years, and to identify the epidemiological, sociodemographic, and environmental risk factors contributing to this disorder. METHODS: This study comprised 41,640 children from the main eight geographic areas in Egypt. It was conducted through four phases: household screening, facility-based screening for high-risk children, diagnosis confirmation, and risk factor assessment. RESULTS: The prevalence of ASD as confirmed by the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Childhood Autism Rating Scale (CARS) was 1.1% (455 out of 41,640), with significant geographic variability. Urban areas had a significantly higher prevalence than rural areas. Children aged 3-6 years showed the highest prevalence at 1.5%. Boys were four times more affected than girls, with prevalence rates of 1.7% and 0.4%, respectively. Significant risk factors included: a history of convulsions (AOR = 4.7; 95% CI: 3.3-6.79), low birth weight (AOR = 2.08; 95% CI: 1.54-2.79), prolonged stays in neonatal intensive care unit (NICU) longer than two days (AOR = 1.91; 95% CI: 1.46-2.49) and maternal health problems during pregnancy (AOR = 1.66; 95% CI:1.36-1.95). Regarding severity, 45% of diagnosed children had moderate ASD, 39% had severe ASD, and 16% had mild ASD. Female gender and older age were significant predictors of greater ASD severity. CONCLUSION: ASD prevalence in Egypt is comparable to other Middle Eastern countries. Policymakers should utilize these findings to design targeted public health interventions aimed at early detection, management, and prevention of ASD progression. En ligne : https://dx.doi.org/10.1186/s13229-025-00665-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Subgrouping autism and ADHD based on structural MRI population modelling centiles / Clara PECCI-TERROBA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 33 Titre : Subgrouping autism and ADHD based on structural MRI population modelling centiles Type de document : texte imprimé Auteurs : Clara PECCI-TERROBA, Auteur ; Meng-Chuan LAI, Auteur ; Michael V. LOMBARDO, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Amber N. V. RUIGROK, Auteur ; John SUCKLING, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jason P. LERCH, Auteur ; Margot J. TAYLOR, Auteur ; Rob NICOLSON, Auteur ; Stelios GEORGIADES, Auteur ; Jennifer CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; Elizabeth KELLEY, Auteur ; Jessica JONES, Auteur ; Paul D. ARNOLD, Auteur ; Jakob SEIDLITZ, Auteur ; Aaron F. ALEXANDER-BLOCH, Auteur ; Edward T. BULLMORE, Auteur ; Simon BARON-COHEN, Auteur ; Saashi A. BEDFORD, Auteur ; Richard A. I. BETHLEHEM, Auteur ; Clara Secondary PECCI-TERROBA, Auteur ; Meng-Chuan LAI, Auteur ; Michael V. LOMBARDO, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Amber N. V. RUIGROK, Auteur ; John SUCKLING, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jason P. LERCH, Auteur ; Margot J. TAYLOR, Auteur ; Rob NICOLSON, Auteur ; Stelios GEORGIADES, Auteur ; Jennifer CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; Elizabeth KELLEY, Auteur ; Jessica JONES, Auteur ; Paul D. ARNOLD, Auteur ; Jakob SEIDLITZ, Auteur ; Aaron F. ALEXANDER-BLOCH, Auteur ; Edward T. BULLMORE, Auteur ; Simon BARON-COHEN, Auteur ; Saashi A. BEDFORD, Auteur ; Richard A. I. BETHLEHEM, Auteur Article en page(s) : 33 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/diagnostic  imaging/classification/pathology  Humans  Autistic Disorder/diagnostic imaging/classification/pathology  Magnetic Resonance Imaging/methods  Male  Female  Child  Cluster Analysis  Adolescent  Algorithms  Machine Learning  Adhd  Autism  Neuroimaging  Population modelling  Structural MRI  Subgrouping  informed consent were obtained for each primary study. The Cambridge Psychology  Research Ethics Committee (PRE.2020.104) deemed that secondary analysis of  deidentified data did not require ethical oversight. Consent for publication: Not  applicable. Competing interests: RAIB, MVL, and M-CL are Associate Editors, and  EA and BC are Editorial Board members of Molecular Autism. SBC is a former  Editor-in-Chief of the journal. ETB reports consultancy work for Boehringer  Ingelheim, Sosei Heptares, SR One, and GlaxoSmithKline. ETB, RAIB, JS, and AFA-B  are cofounders of Centile Bioscience. PDA receives research support from Biohaven  Pharmaceuticals. M-CL has received editorial honorarium from SAGE Publications.  RN reported receiving grants from Brain Canada, Hoffman La Roche, Otsuka  Pharmaceuticals, and Maplight Therapeutics outside the submitted work. EA  reported receiving grants from Roche and Anavex  receiving nonfinancial support  from AMO Pharma and CRA-Simons Foundation  and receiving personal fees from  Roche, Impel, Ono, and Quadrant outside the submitted work. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism and attention deficit hyperactivity disorder (ADHD) are two highly heterogeneous neurodevelopmental conditions with variable underlying neurobiology. Imaging studies have yielded varied results, and it is now clear that there is unlikely to be one characteristic neuroanatomical profile of either condition. Parsing this heterogeneity could allow us to identify more homogeneous subgroups, either within or across conditions, which may be more clinically informative. This has been a pivotal goal for neurodevelopmental research using both clinical and neuroanatomical features, though results thus far have again been inconsistent with regards to the number and characteristics of subgroups. METHODS: Here, we use population modelling to cluster a multi-site dataset based on global and regional centile scores of cortical thickness, surface area and grey matter volume. We use HYDRA, a novel semi-supervised machine learning algorithm which clusters based on differences to controls and compare its performance to a traditional clustering approach. RESULTS: We identified distinct subgroups within autism and ADHD, as well as across diagnosis, often with opposite neuroanatomical alterations relatively to controls. These subgroups were characterised by different combinations of increased or decreased patterns of morphometrics. We did not find significant clinical differences across subgroups. LIMITATIONS: Crucially, however, the number of subgroups and their membership differed vastly depending on chosen features and the algorithm used, highlighting the impact and importance of careful method selection. CONCLUSIONS: We highlight the importance of examining heterogeneity in autism and ADHD and demonstrate that population modelling is a useful tool to study subgrouping in autism and ADHD. We identified subgroups with distinct patterns of alterations relative to controls but note that these results rely heavily on the algorithm used and encourage detailed reporting of methods and features used in future studies. En ligne : https://dx.doi.org/10.1186/s13229-025-00667-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Subgrouping autism and ADHD based on structural MRI population modelling centiles [texte imprimé] / Clara PECCI-TERROBA, Auteur ; Meng-Chuan LAI, Auteur ; Michael V. LOMBARDO, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Amber N. V. RUIGROK, Auteur ; John SUCKLING, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jason P. LERCH, Auteur ; Margot J. TAYLOR, Auteur ; Rob NICOLSON, Auteur ; Stelios GEORGIADES, Auteur ; Jennifer CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; Elizabeth KELLEY, Auteur ; Jessica JONES, Auteur ; Paul D. ARNOLD, Auteur ; Jakob SEIDLITZ, Auteur ; Aaron F. ALEXANDER-BLOCH, Auteur ; Edward T. BULLMORE, Auteur ; Simon BARON-COHEN, Auteur ; Saashi A. BEDFORD, Auteur ; Richard A. I. BETHLEHEM, Auteur ; Clara Secondary PECCI-TERROBA, Auteur ; Meng-Chuan LAI, Auteur ; Michael V. LOMBARDO, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Amber N. V. RUIGROK, Auteur ; John SUCKLING, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jason P. LERCH, Auteur ; Margot J. TAYLOR, Auteur ; Rob NICOLSON, Auteur ; Stelios GEORGIADES, Auteur ; Jennifer CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; Elizabeth KELLEY, Auteur ; Jessica JONES, Auteur ; Paul D. ARNOLD, Auteur ; Jakob SEIDLITZ, Auteur ; Aaron F. ALEXANDER-BLOCH, Auteur ; Edward T. BULLMORE, Auteur ; Simon BARON-COHEN, Auteur ; Saashi A. BEDFORD, Auteur ; Richard A. I. BETHLEHEM, Auteur . - 33. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 33 Mots-clés : Attention Deficit Disorder with Hyperactivity/diagnostic  imaging/classification/pathology  Humans  Autistic Disorder/diagnostic imaging/classification/pathology  Magnetic Resonance Imaging/methods  Male  Female  Child  Cluster Analysis  Adolescent  Algorithms  Machine Learning  Adhd  Autism  Neuroimaging  Population modelling  Structural MRI  Subgrouping  informed consent were obtained for each primary study. The Cambridge Psychology  Research Ethics Committee (PRE.2020.104) deemed that secondary analysis of  deidentified data did not require ethical oversight. Consent for publication: Not  applicable. Competing interests: RAIB, MVL, and M-CL are Associate Editors, and  EA and BC are Editorial Board members of Molecular Autism. SBC is a former  Editor-in-Chief of the journal. ETB reports consultancy work for Boehringer  Ingelheim, Sosei Heptares, SR One, and GlaxoSmithKline. ETB, RAIB, JS, and AFA-B  are cofounders of Centile Bioscience. PDA receives research support from Biohaven  Pharmaceuticals. M-CL has received editorial honorarium from SAGE Publications.  RN reported receiving grants from Brain Canada, Hoffman La Roche, Otsuka  Pharmaceuticals, and Maplight Therapeutics outside the submitted work. EA  reported receiving grants from Roche and Anavex  receiving nonfinancial support  from AMO Pharma and CRA-Simons Foundation  and receiving personal fees from  Roche, Impel, Ono, and Quadrant outside the submitted work. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism and attention deficit hyperactivity disorder (ADHD) are two highly heterogeneous neurodevelopmental conditions with variable underlying neurobiology. Imaging studies have yielded varied results, and it is now clear that there is unlikely to be one characteristic neuroanatomical profile of either condition. Parsing this heterogeneity could allow us to identify more homogeneous subgroups, either within or across conditions, which may be more clinically informative. This has been a pivotal goal for neurodevelopmental research using both clinical and neuroanatomical features, though results thus far have again been inconsistent with regards to the number and characteristics of subgroups. METHODS: Here, we use population modelling to cluster a multi-site dataset based on global and regional centile scores of cortical thickness, surface area and grey matter volume. We use HYDRA, a novel semi-supervised machine learning algorithm which clusters based on differences to controls and compare its performance to a traditional clustering approach. RESULTS: We identified distinct subgroups within autism and ADHD, as well as across diagnosis, often with opposite neuroanatomical alterations relatively to controls. These subgroups were characterised by different combinations of increased or decreased patterns of morphometrics. We did not find significant clinical differences across subgroups. LIMITATIONS: Crucially, however, the number of subgroups and their membership differed vastly depending on chosen features and the algorithm used, highlighting the impact and importance of careful method selection. CONCLUSIONS: We highlight the importance of examining heterogeneity in autism and ADHD and demonstrate that population modelling is a useful tool to study subgrouping in autism and ADHD. We identified subgroups with distinct patterns of alterations relative to controls but note that these results rely heavily on the algorithm used and encourage detailed reporting of methods and features used in future studies. En ligne : https://dx.doi.org/10.1186/s13229-025-00667-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

The influence of interpersonal synchrony and autism on impressions of dyadic interactions: a preregistered study / Irene S. PLANK in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 34 Titre : The influence of interpersonal synchrony and autism on impressions of dyadic interactions: a preregistered study Type de document : texte imprimé Auteurs : Irene S. PLANK, Auteur ; Ralf TEPEST, Auteur ; Kai VOGELEY, Auteur ; Christine M. FALTER-WAGNER, Auteur ; Irene S. Secondary PLANK, Auteur ; Ralf TEPEST, Auteur ; Kai VOGELEY, Auteur ; Christine M. FALTER-WAGNER, Auteur Article en page(s) : 34 Langues : Anglais (eng) Mots-clés : Humans  Male  Autistic Disorder/psychology  Female  Adult  Interpersonal Relations  Young Adult  Eye Movements  Social Interaction  Middle Aged  Fixation, Ocular  Autism spectrum disorder  Behavioural coordination  Dyadic interactions  Impression formation  Interpersonal synchrony  Observed interactions  by the Ethics committee of the LMU Munich (Reference number: 23–0268) and  conducted in concordance with the Declaration of Helsinki. All participants were  informed of the study procedure, study aim, associated risks and benefits as well  as data processing and data protection, before they signed a written consent  form. Consent for publication: We received consent for publication from the two  interaction partners depicted in Fig. 2. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Humans form almost instantaneous impressions of everyone they encounter. These impressions set the first tone for how they approach and interact with others. Research on impression formation unveiled that impressions formed by autistic and non-autistic people are often less favourable when rating an autistic person. This effect is partly explainable by differences in motion dynamics. METHODS: In this preregistered study, we systematically assessed impressions formed by 27 autistic and 36 non-autistic comparison observers when watching videos showing silent interactions between either two non-autistic or between an autistic and a non-autistic person. We used an eye tracker to capture their gaze patterns while observing these interactions. Of each dyadic interaction, video vignettes with high and vignettes with low interpersonal synchrony of movement (IPS(mov)) were extracted using Motion Energy Analysis so that we could investigate the effects of interpersonal synchrony and diagnosis, respectively. RESULTS: Interactions were rated less favourably when the observed dyad included an autistic adult. Additionally, interactions showing low IPS(mov) were rated less favourably than interactions showing high IPS(mov), regardless of dyad type. Both autistic and comparison observers rated interactions of non-autistic dyads and high IPS(mov) interactions more favourably. Gaze patterns revealed differences between autistic and comparison observers, but no differences due to IPS(mov) or dyad type. Furthermore, dwell times to hands predicted ratings. LIMITATIONS: In this study, we investigated specific influences on impression formation, specifically interpersonal synchrony of movement and autism. There are many more potentially interesting aspects of individuals that impact impression formation, such as facial expressiveness, gaze behaviour and linguistic content of conversations, which should be investigated systematically and in a controlled fashion in future research. CONCLUSIONS: Extending research on autism and impression formation to dyadic interactions, this study reveals that motion dynamics play a role in how pleasant interactions are perceived. Autistic-involved interactions were rated lower, despite observers being unaware of the dyad type and only watching people's outlines. Future research should identify conversational aspects driving lower ratings of mixed dyads, potentially considering the effect of hand dwell times on ratings. Autistic and comparison observers showed different gaze patterns despite similar ratings, confirming distinct social information processing. En ligne : https://dx.doi.org/10.1186/s13229-025-00668-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] The influence of interpersonal synchrony and autism on impressions of dyadic interactions: a preregistered study [texte imprimé] / Irene S. PLANK, Auteur ; Ralf TEPEST, Auteur ; Kai VOGELEY, Auteur ; Christine M. FALTER-WAGNER, Auteur ; Irene S. Secondary PLANK, Auteur ; Ralf TEPEST, Auteur ; Kai VOGELEY, Auteur ; Christine M. FALTER-WAGNER, Auteur . - 34. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 34 Mots-clés : Humans  Male  Autistic Disorder/psychology  Female  Adult  Interpersonal Relations  Young Adult  Eye Movements  Social Interaction  Middle Aged  Fixation, Ocular  Autism spectrum disorder  Behavioural coordination  Dyadic interactions  Impression formation  Interpersonal synchrony  Observed interactions  by the Ethics committee of the LMU Munich (Reference number: 23–0268) and  conducted in concordance with the Declaration of Helsinki. All participants were  informed of the study procedure, study aim, associated risks and benefits as well  as data processing and data protection, before they signed a written consent  form. Consent for publication: We received consent for publication from the two  interaction partners depicted in Fig. 2. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Humans form almost instantaneous impressions of everyone they encounter. These impressions set the first tone for how they approach and interact with others. Research on impression formation unveiled that impressions formed by autistic and non-autistic people are often less favourable when rating an autistic person. This effect is partly explainable by differences in motion dynamics. METHODS: In this preregistered study, we systematically assessed impressions formed by 27 autistic and 36 non-autistic comparison observers when watching videos showing silent interactions between either two non-autistic or between an autistic and a non-autistic person. We used an eye tracker to capture their gaze patterns while observing these interactions. Of each dyadic interaction, video vignettes with high and vignettes with low interpersonal synchrony of movement (IPS(mov)) were extracted using Motion Energy Analysis so that we could investigate the effects of interpersonal synchrony and diagnosis, respectively. RESULTS: Interactions were rated less favourably when the observed dyad included an autistic adult. Additionally, interactions showing low IPS(mov) were rated less favourably than interactions showing high IPS(mov), regardless of dyad type. Both autistic and comparison observers rated interactions of non-autistic dyads and high IPS(mov) interactions more favourably. Gaze patterns revealed differences between autistic and comparison observers, but no differences due to IPS(mov) or dyad type. Furthermore, dwell times to hands predicted ratings. LIMITATIONS: In this study, we investigated specific influences on impression formation, specifically interpersonal synchrony of movement and autism. There are many more potentially interesting aspects of individuals that impact impression formation, such as facial expressiveness, gaze behaviour and linguistic content of conversations, which should be investigated systematically and in a controlled fashion in future research. CONCLUSIONS: Extending research on autism and impression formation to dyadic interactions, this study reveals that motion dynamics play a role in how pleasant interactions are perceived. Autistic-involved interactions were rated lower, despite observers being unaware of the dyad type and only watching people's outlines. Future research should identify conversational aspects driving lower ratings of mixed dyads, potentially considering the effect of hand dwell times on ratings. Autistic and comparison observers showed different gaze patterns despite similar ratings, confirming distinct social information processing. En ligne : https://dx.doi.org/10.1186/s13229-025-00668-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Access to services for autistic people across Europe / Siti Nurnadhirah BINTE MOHD IKHSAN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 35 Titre : Access to services for autistic people across Europe Type de document : texte imprimé Auteurs : Siti Nurnadhirah BINTE MOHD IKHSAN, Auteur ; Rosemary HOLT, Auteur ; Joyce MAN, Auteur ; Tracey PARSONS, Auteur ; Rik SCHALBROECK, Auteur ; Amber RUIGROK, Auteur ; Aurélie BARANGER, Auteur ; Carrie ALLISON, Auteur ; Mary DOHERTY, Auteur ; Katrien VAN DEN BOSCH, Auteur ; Jerneja TERČON, Auteur ; Pierre VIOLLAND, Auteur ; Anjuli GHOSH, Auteur ; James CUSACK, Auteur ; Simon BARON-COHEN, Auteur ; Siti Nurnadhirah Secondary BINTE MOHD IKHSAN, Auteur ; Rosemary HOLT, Auteur ; Joyce MAN, Auteur ; Tracey PARSONS, Auteur ; Rik SCHALBROECK, Auteur ; Amber RUIGROK, Auteur ; Aurélie BARANGER, Auteur ; Carrie ALLISON, Auteur ; Mary DOHERTY, Auteur ; Katrien VAN DEN BOSCH, Auteur ; Jerneja TERČON, Auteur ; Pierre VIOLLAND, Auteur ; Anjuli GHOSH, Auteur ; James CUSACK, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : 35 Langues : Anglais (eng) Mots-clés : Humans  Male  Health Services Accessibility/statistics & numerical data  Female  Adult  Autistic Disorder/therapy/epidemiology/diagnosis  Europe/epidemiology  Adolescent  Middle Aged  Child  Young Adult  Surveys and Questionnaires  United Kingdom  Autism  Europe  Policy  Service access  Service barriers  Services  Survey  conducted in accordance with the principles outlined in the Declaration of  Helsinki. All participants gave written informed consent in the ACCESS-EU study,  which was approved by the Cambridge Psychology Research Ethics Committee  (reference number PRE.2019.088). As this research involved an online survey, it  adhered to ethical standards for informed consent, participant confidentiality,  and data protection. All participants were provided with a clear informed consent  form and assured that their participation was voluntary, anonymous, and  confidential. Consent for publication: Not applicable. Competing interests: Simon  Baron-Cohen is the previous Editor-in-Chief of Molecular Autism. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic communities in Europe continue to face difficulties accessing services despite increasing rates of autism diagnosis in recent years. METHODS: To investigate autistic people's access to services in Europe and reasons for unsuccessful access, we conducted the ACCESS-EU survey comprising of 2322 formally diagnosed autistic people and family carers living within the European Union (EU) and the United Kingdom (UK). The survey also examined age group (adult vs. child) and gender (male vs. female) differences in results. RESULTS: Overall, autistic people reported access to therapy (33.38%), mental health (29.89%), educational (27.05%), medical (34.28%), financial (26.66%), needs assessment (14.90%), information/referral (14.73%), social care (14.43%), employment (7.54%), housing (6.80%), legal (3.96%), helpline (3.40%) and other services (0.26%), and most (≥ 57.61%) had waited up to 6 months from referral to access most services. Several respondents were also unable to access therapeutic (13.53%), mental health (11.90%), autism diagnostic (5.92%), needs assessment (8.32%), financial (9.62%), educational (8.10%), social care (7.39%), information/referral (6.14%), medical (7.28%), housing (5.92%), employment (5.43%), legal (3.42%), and helpline services (2.34%). Reasons cited by respondents for their unsuccessful service access included service unavailability (23.08%), service unsuitability or participant ineligibility (20.04%), long waitlists (17.42%), service unaffordability (11.80%), and rejection from service due to autism diagnosis (9.87%), along with other reasons not listed in the survey (18.42%). Significant age group and gender differences were observed for successful access to services, waiting time, unsuccessful access and reasons for unsuccessful access. Among the five most represented countries in the survey-the UK (33.33%), Spain (14.04%), Poland (13.87%), France (11.07%) and Germany (6.03%)-overall service access was most inconsistent in Poland and the UK, highest in Germany and Spain but poorest in France. LIMITATIONS: Issues related to survey presentation such as the languages in which the survey was conducted and the phrasing of some questions should be considered, as well as issues regarding subjectivity and ambiguity of data analysis such as translation of non-English responses into English. CONCLUSIONS: Our findings suggest that service access among autistic people in Europe is inconsistent. Significant improvement to current policies is required to enhance access to services across Europe. En ligne : https://dx.doi.org/10.1186/s13229-025-00664-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Access to services for autistic people across Europe [texte imprimé] / Siti Nurnadhirah BINTE MOHD IKHSAN, Auteur ; Rosemary HOLT, Auteur ; Joyce MAN, Auteur ; Tracey PARSONS, Auteur ; Rik SCHALBROECK, Auteur ; Amber RUIGROK, Auteur ; Aurélie BARANGER, Auteur ; Carrie ALLISON, Auteur ; Mary DOHERTY, Auteur ; Katrien VAN DEN BOSCH, Auteur ; Jerneja TERČON, Auteur ; Pierre VIOLLAND, Auteur ; Anjuli GHOSH, Auteur ; James CUSACK, Auteur ; Simon BARON-COHEN, Auteur ; Siti Nurnadhirah Secondary BINTE MOHD IKHSAN, Auteur ; Rosemary HOLT, Auteur ; Joyce MAN, Auteur ; Tracey PARSONS, Auteur ; Rik SCHALBROECK, Auteur ; Amber RUIGROK, Auteur ; Aurélie BARANGER, Auteur ; Carrie ALLISON, Auteur ; Mary DOHERTY, Auteur ; Katrien VAN DEN BOSCH, Auteur ; Jerneja TERČON, Auteur ; Pierre VIOLLAND, Auteur ; Anjuli GHOSH, Auteur ; James CUSACK, Auteur ; Simon BARON-COHEN, Auteur . - 35. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 35 Mots-clés : Humans  Male  Health Services Accessibility/statistics & numerical data  Female  Adult  Autistic Disorder/therapy/epidemiology/diagnosis  Europe/epidemiology  Adolescent  Middle Aged  Child  Young Adult  Surveys and Questionnaires  United Kingdom  Autism  Europe  Policy  Service access  Service barriers  Services  Survey  conducted in accordance with the principles outlined in the Declaration of  Helsinki. All participants gave written informed consent in the ACCESS-EU study,  which was approved by the Cambridge Psychology Research Ethics Committee  (reference number PRE.2019.088). As this research involved an online survey, it  adhered to ethical standards for informed consent, participant confidentiality,  and data protection. All participants were provided with a clear informed consent  form and assured that their participation was voluntary, anonymous, and  confidential. Consent for publication: Not applicable. Competing interests: Simon  Baron-Cohen is the previous Editor-in-Chief of Molecular Autism. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic communities in Europe continue to face difficulties accessing services despite increasing rates of autism diagnosis in recent years. METHODS: To investigate autistic people's access to services in Europe and reasons for unsuccessful access, we conducted the ACCESS-EU survey comprising of 2322 formally diagnosed autistic people and family carers living within the European Union (EU) and the United Kingdom (UK). The survey also examined age group (adult vs. child) and gender (male vs. female) differences in results. RESULTS: Overall, autistic people reported access to therapy (33.38%), mental health (29.89%), educational (27.05%), medical (34.28%), financial (26.66%), needs assessment (14.90%), information/referral (14.73%), social care (14.43%), employment (7.54%), housing (6.80%), legal (3.96%), helpline (3.40%) and other services (0.26%), and most (≥ 57.61%) had waited up to 6 months from referral to access most services. Several respondents were also unable to access therapeutic (13.53%), mental health (11.90%), autism diagnostic (5.92%), needs assessment (8.32%), financial (9.62%), educational (8.10%), social care (7.39%), information/referral (6.14%), medical (7.28%), housing (5.92%), employment (5.43%), legal (3.42%), and helpline services (2.34%). Reasons cited by respondents for their unsuccessful service access included service unavailability (23.08%), service unsuitability or participant ineligibility (20.04%), long waitlists (17.42%), service unaffordability (11.80%), and rejection from service due to autism diagnosis (9.87%), along with other reasons not listed in the survey (18.42%). Significant age group and gender differences were observed for successful access to services, waiting time, unsuccessful access and reasons for unsuccessful access. Among the five most represented countries in the survey-the UK (33.33%), Spain (14.04%), Poland (13.87%), France (11.07%) and Germany (6.03%)-overall service access was most inconsistent in Poland and the UK, highest in Germany and Spain but poorest in France. LIMITATIONS: Issues related to survey presentation such as the languages in which the survey was conducted and the phrasing of some questions should be considered, as well as issues regarding subjectivity and ambiguity of data analysis such as translation of non-English responses into English. CONCLUSIONS: Our findings suggest that service access among autistic people in Europe is inconsistent. Significant improvement to current policies is required to enhance access to services across Europe. En ligne : https://dx.doi.org/10.1186/s13229-025-00664-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism / Kristelle HUDRY in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 36 Titre : Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism Type de document : texte imprimé Auteurs : Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kristelle Secondary HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : 36 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children. METHODS: Community sampling (March 2019-March 2021) of 2:00–4:11 year-olds included children recruited into a diagnosed Autism Group (‘cases’) and Non-Autism ‘Control’ Group (with likely undiagnosed autism minimised). We recruited well beyond minimum necessary sample size to ensure within-group heterogeneity and allow exploratory subgroup analysis. Alongside Gazefinder eye-tracking attempted with all recruited participants, we collected parent-report measures for all children, and clinical/behavioural measures with autistic children. RESULTS: 102 autistic (81.4% male; M(age)= 44mths; SD = 8.8) and 101 non-autistic children (57.4% male; M = 40; SD = 10.5) were recruited and eligible; the former slightly older, proportionately more male, and reflecting greater socio-demographic diversity. Gazefinder autism assessment was completed with 101 non-autistic children (n = 1 returning minimal data), and attempted with 100- and completed with 96 autistic children (n = 2 not attempted following adverse responses to clinical testing; n = 4 attempted but unable to calibrate). The Non-Autism Group returned significantly more overall tracking data. The final Classification Algorithm (range 0-100; threshold score = 28.6)—derived from n = 196 children’s fixation durations to elements of social/non-social scenes, human face presentations, and referential attention trials—had AUC = 0.82 (sensitivity = 0.82, specificity = 0.70). Compared to those correctly classified, autistic children misclassified as ‘controls’ showed greater overall tracking, and less pronounced autism features and developmental disability. Compared to correctly classified non-autistic children, those misclassified as ‘cases’ were older with lower overall tracking. LIMITATIONS: Our groups differed on socio-demographic characteristics and overall tracking (included within the Classification Algorithm). We used the ‘Scene 10A’ stimulus set as provided, without update/modification. Industry employees who developed the final Algorithm were non-blinded to child group, and considered only gaze fixation durations. Community sampling and ‘case-control’ design—comparing diagnosed autistic vs. non-autistic children—could be improved via future referral-based recruitment. CONCLUSIONS: Most children tolerated Gazefinder autism assessment, and our Classification Algorithm properties approached those reported from other Gazefinder use and established clinical assessments. Independent replication is required, and research informing the most suitable clinical application of this technology. TRIAL REGISTRATION: ACTRN12619000317190 SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00670-4. En ligne : https://dx.doi.org/10.1186/s13229-025-00670-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism [texte imprimé] / Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kristelle Secondary HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - 36. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 36 Index. décimale : PER Périodiques Résumé : BACKGROUND: Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children. METHODS: Community sampling (March 2019-March 2021) of 2:00–4:11 year-olds included children recruited into a diagnosed Autism Group (‘cases’) and Non-Autism ‘Control’ Group (with likely undiagnosed autism minimised). We recruited well beyond minimum necessary sample size to ensure within-group heterogeneity and allow exploratory subgroup analysis. Alongside Gazefinder eye-tracking attempted with all recruited participants, we collected parent-report measures for all children, and clinical/behavioural measures with autistic children. RESULTS: 102 autistic (81.4% male; M(age)= 44mths; SD = 8.8) and 101 non-autistic children (57.4% male; M = 40; SD = 10.5) were recruited and eligible; the former slightly older, proportionately more male, and reflecting greater socio-demographic diversity. Gazefinder autism assessment was completed with 101 non-autistic children (n = 1 returning minimal data), and attempted with 100- and completed with 96 autistic children (n = 2 not attempted following adverse responses to clinical testing; n = 4 attempted but unable to calibrate). The Non-Autism Group returned significantly more overall tracking data. The final Classification Algorithm (range 0-100; threshold score = 28.6)—derived from n = 196 children’s fixation durations to elements of social/non-social scenes, human face presentations, and referential attention trials—had AUC = 0.82 (sensitivity = 0.82, specificity = 0.70). Compared to those correctly classified, autistic children misclassified as ‘controls’ showed greater overall tracking, and less pronounced autism features and developmental disability. Compared to correctly classified non-autistic children, those misclassified as ‘cases’ were older with lower overall tracking. LIMITATIONS: Our groups differed on socio-demographic characteristics and overall tracking (included within the Classification Algorithm). We used the ‘Scene 10A’ stimulus set as provided, without update/modification. Industry employees who developed the final Algorithm were non-blinded to child group, and considered only gaze fixation durations. Community sampling and ‘case-control’ design—comparing diagnosed autistic vs. non-autistic children—could be improved via future referral-based recruitment. CONCLUSIONS: Most children tolerated Gazefinder autism assessment, and our Classification Algorithm properties approached those reported from other Gazefinder use and established clinical assessments. Independent replication is required, and research informing the most suitable clinical application of this technology. TRIAL REGISTRATION: ACTRN12619000317190 SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00670-4. En ligne : https://dx.doi.org/10.1186/s13229-025-00670-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

A transdiagnostic study of theory of mind in children and youth with neurodevelopmental conditions / Kaela AMORIM in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 37 Titre : A transdiagnostic study of theory of mind in children and youth with neurodevelopmental conditions Type de document : texte imprimé Auteurs : Kaela AMORIM, Auteur ; Marlee M. VANDEWOUW, Auteur ; Nhu HUYNH, Auteur ; Kathrina DE VILLA, Auteur ; Celine SAFATI, Auteur ; Aurora ALMONTE, Auteur ; Rob NICOLSON, Auteur ; Elizabeth KELLEY, Auteur ; Jennifer CROSBIE, Auteur ; Jessica BRIAN, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Margot J. TAYLOR, Auteur ; Julie SATO, Auteur ; Kaela Secondary AMORIM, Auteur ; Marlee M. VANDEWOUW, Auteur ; Nhu HUYNH, Auteur ; Kathrina DE VILLA, Auteur ; Celine SAFATI, Auteur ; Aurora ALMONTE, Auteur ; Rob NICOLSON, Auteur ; Elizabeth KELLEY, Auteur ; Jennifer CROSBIE, Auteur ; Jessica BRIAN, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Margot J. TAYLOR, Auteur ; Julie SATO, Auteur Article en page(s) : 37 Langues : Anglais (eng) Mots-clés : Humans  Child  Theory of Mind  Male  Female  Adolescent  Child, Preschool  Young Adult  Neurodevelopmental Disorders/diagnosis/psychology  Attention Deficit Disorder with Hyperactivity/diagnosis/psychology  Case-Control Studies  Obsessive-Compulsive Disorder/diagnosis/psychology  Autistic Disorder/diagnosis/psychology  Development  Neurodevelopmental conditions  Social attribution task  Theory of mind  Transdiagnostic  human participants and was approved by Holland Bloorview Kids Rehabilitation  Hospital, Toronto (11–280)  The Hospital for Sick Children, Toronto (1000012230)  McMaster Children’s Hospital, Hamilton (12–050)  Lawson Health Research  Institute, London (103326)  and Queen’s University, Kingston (6005107). All  children and youth provided verbal assent, and parents gave written informed  consent in accordance with the Declaration of Helsinki. Consent for publication:  Not applicable. Competing interests: EA has received grants from Roche and  Anavex, served as a consultant to Roche, Quadrant Therapeutics, Ono, and Impel  Pharmaceuticals, has received in-kind support from AMO Pharma and CRA-Simons  Foundation, received royalties from APPI and Springer, received an editorial  honorarium from Wiley, and has a patent for holly™ (formerly Anxiety Meter). All  other authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Theory of mind (ToM) is fundamental for social interactions, allowing individuals to appreciate that others have their own mental states. Children and youth with neurodevelopmental conditions (e.g., autism, attention-deficit hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD)) often show differences in ToM abilities compared to their neurotypical (NT) peers. Given the phenotypic heterogeneity and overlap associated with these conditions, this motivates a transdiagnostic investigation of ToM across neurodevelopmental conditions. METHODS: Five hundred and fifty-five participants (5-22 years; 193 ADHD, 189 autism, 33 OCD, and 140 NT) were recruited via the Province of Ontario Neurodevelopmental Disorders network. To measure ToM, participants completed the Social Attribution Task (SAT), where participants attribute social stories to videos of moving shapes. The Animation Index (ability to attribute social stories to the videos) and Pertinence Index (how pertinent the attributions are) were calculated from the descriptions. Three analyses were performed: (1) a case-control analysis, comparing the SAT indices amongst the diagnostic groups, (2) a univariate dimensional analysis, examining associations with phenotypic variables (e.g., full-scale IQ, verbal IQ, and social communication difficulties), (3) and a multivariate analysis (partial least squares) that identifies a latent space that describes the associations between the SAT and phenotypic measures. RESULTS: There were no between-group differences in the Animation Index, but the Pertinence Index was significantly lower in autism compared to the other diagnostic categories. Phenotypic variables (full-scale IQ, verbal IQ, and social communication difficulties) were found to be significantly associated with SAT performance across groups, and explained more variance than the diagnostic categories. In the multivariate analysis, the phenotypic variables contributed more strongly to the identified latent component compared to the diagnostic categories. LIMITATIONS: The verbal requirement of the SAT limited the inclusion of non-verbal participants, while the overall cognitive demand limited the participation of those with lower IQs. Additionally, our OCD group was significantly smaller than the other groups, which may have limited our ability to detect OCD-specific effects. CONCLUSIONS: In a large sample, we found that transdiagnostic measures, such as IQ and social communication difficulties, are related to SAT abilities across neurodivergent and neurotypical children and youth and better describe differences in SAT performance compared to the individual diagnostic categories. Although poorer performance on ToM tasks has been classically associated with autism, this study highlights that transdiagnostic, phenotypic variables are a stronger predictor of SAT performance than diagnostic group. En ligne : https://dx.doi.org/10.1186/s13229-025-00671-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] A transdiagnostic study of theory of mind in children and youth with neurodevelopmental conditions [texte imprimé] / Kaela AMORIM, Auteur ; Marlee M. VANDEWOUW, Auteur ; Nhu HUYNH, Auteur ; Kathrina DE VILLA, Auteur ; Celine SAFATI, Auteur ; Aurora ALMONTE, Auteur ; Rob NICOLSON, Auteur ; Elizabeth KELLEY, Auteur ; Jennifer CROSBIE, Auteur ; Jessica BRIAN, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Margot J. TAYLOR, Auteur ; Julie SATO, Auteur ; Kaela Secondary AMORIM, Auteur ; Marlee M. VANDEWOUW, Auteur ; Nhu HUYNH, Auteur ; Kathrina DE VILLA, Auteur ; Celine SAFATI, Auteur ; Aurora ALMONTE, Auteur ; Rob NICOLSON, Auteur ; Elizabeth KELLEY, Auteur ; Jennifer CROSBIE, Auteur ; Jessica BRIAN, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Margot J. TAYLOR, Auteur ; Julie SATO, Auteur . - 37. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 37 Mots-clés : Humans  Child  Theory of Mind  Male  Female  Adolescent  Child, Preschool  Young Adult  Neurodevelopmental Disorders/diagnosis/psychology  Attention Deficit Disorder with Hyperactivity/diagnosis/psychology  Case-Control Studies  Obsessive-Compulsive Disorder/diagnosis/psychology  Autistic Disorder/diagnosis/psychology  Development  Neurodevelopmental conditions  Social attribution task  Theory of mind  Transdiagnostic  human participants and was approved by Holland Bloorview Kids Rehabilitation  Hospital, Toronto (11–280)  The Hospital for Sick Children, Toronto (1000012230)  McMaster Children’s Hospital, Hamilton (12–050)  Lawson Health Research  Institute, London (103326)  and Queen’s University, Kingston (6005107). All  children and youth provided verbal assent, and parents gave written informed  consent in accordance with the Declaration of Helsinki. Consent for publication:  Not applicable. Competing interests: EA has received grants from Roche and  Anavex, served as a consultant to Roche, Quadrant Therapeutics, Ono, and Impel  Pharmaceuticals, has received in-kind support from AMO Pharma and CRA-Simons  Foundation, received royalties from APPI and Springer, received an editorial  honorarium from Wiley, and has a patent for holly™ (formerly Anxiety Meter). All  other authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Theory of mind (ToM) is fundamental for social interactions, allowing individuals to appreciate that others have their own mental states. Children and youth with neurodevelopmental conditions (e.g., autism, attention-deficit hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD)) often show differences in ToM abilities compared to their neurotypical (NT) peers. Given the phenotypic heterogeneity and overlap associated with these conditions, this motivates a transdiagnostic investigation of ToM across neurodevelopmental conditions. METHODS: Five hundred and fifty-five participants (5-22 years; 193 ADHD, 189 autism, 33 OCD, and 140 NT) were recruited via the Province of Ontario Neurodevelopmental Disorders network. To measure ToM, participants completed the Social Attribution Task (SAT), where participants attribute social stories to videos of moving shapes. The Animation Index (ability to attribute social stories to the videos) and Pertinence Index (how pertinent the attributions are) were calculated from the descriptions. Three analyses were performed: (1) a case-control analysis, comparing the SAT indices amongst the diagnostic groups, (2) a univariate dimensional analysis, examining associations with phenotypic variables (e.g., full-scale IQ, verbal IQ, and social communication difficulties), (3) and a multivariate analysis (partial least squares) that identifies a latent space that describes the associations between the SAT and phenotypic measures. RESULTS: There were no between-group differences in the Animation Index, but the Pertinence Index was significantly lower in autism compared to the other diagnostic categories. Phenotypic variables (full-scale IQ, verbal IQ, and social communication difficulties) were found to be significantly associated with SAT performance across groups, and explained more variance than the diagnostic categories. In the multivariate analysis, the phenotypic variables contributed more strongly to the identified latent component compared to the diagnostic categories. LIMITATIONS: The verbal requirement of the SAT limited the inclusion of non-verbal participants, while the overall cognitive demand limited the participation of those with lower IQs. Additionally, our OCD group was significantly smaller than the other groups, which may have limited our ability to detect OCD-specific effects. CONCLUSIONS: In a large sample, we found that transdiagnostic measures, such as IQ and social communication difficulties, are related to SAT abilities across neurodivergent and neurotypical children and youth and better describe differences in SAT performance compared to the individual diagnostic categories. Although poorer performance on ToM tasks has been classically associated with autism, this study highlights that transdiagnostic, phenotypic variables are a stronger predictor of SAT performance than diagnostic group. En ligne : https://dx.doi.org/10.1186/s13229-025-00671-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Social orienting in prematurely born preschoolers: a case control study showing altered neural tuning towards voices, not faces / Rowena VAN DEN BROECK in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 38 Titre : Social orienting in prematurely born preschoolers: a case control study showing altered neural tuning towards voices, not faces Type de document : texte imprimé Auteurs : Rowena VAN DEN BROECK, Auteur ; Lisa GISTELINCK, Auteur ; Sofie VETTORI, Auteur ; Ward DEFERM, Auteur ; Silke VOS, Auteur ; Bieke BOLLEN, Auteur ; Gunnar NAULAERS, Auteur ; Els ORTIBUS, Auteur ; Bart BOETS, Auteur ; Rowena Secondary VAN DEN BROECK, Auteur ; Lisa GISTELINCK, Auteur ; Sofie VETTORI, Auteur ; Ward DEFERM, Auteur ; Silke VOS, Auteur ; Bieke BOLLEN, Auteur ; Gunnar NAULAERS, Auteur ; Els ORTIBUS, Auteur ; Bart BOETS, Auteur Article en page(s) : 38 Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Child, Preschool  Infant, Premature/physiology  Electroencephalography  Case-Control Studies  Voice  Social Behavior  Infant, Newborn  Face  Eeg  Faces  Frequency-tagging  Preschoolers  Preterm  Voices  performed in accordance with the Declaration of Helsinki and was approved by the  Medical Ethical Committee of UZ/KU Leuven (S58807). Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite advancements in neonatal care, premature infants remain at increased risk for cognitive and socio-emotional difficulties, collectively referred to as the preterm behavioral phenotype. A particular aspect of this phenotype is atypical social orienting, characterized by reduced attention towards socially relevant information, similar to what has been reported for autism spectrum disorder. METHODS: We monitored a cohort of prematurely born children from birth. At five years of age, we administered a series of frequency-tagging electroencephalography (EEG) paradigms to investigate their neural sensitivity to social cues, i.e., sensitivity for faces and voices. Frequency-tagging EEG utilizes fast periodic stimulation to elicit synchronized brain responses measurable in the frequency domain. In the preterm (N = 66) and in a matched full-term control group (N = 32), we applied two multi-input frequency-tagging EEG paradigms, simultaneously presenting streams of social and non-social stimuli, each tagged at different presentation rates. In the visual domain, we presented streams of faces and houses. In the auditory domain, we presented streams of voices and object sounds. We used linear mixed models to investigate the effects of group and stimulus type. RESULTS: All children showed an implicit social bias towards faces and voices. Compared to full-term peers, preterm preschoolers showed intact neural tuning to faces, but diminished neural tuning to voices, in particular in the speech-sensitive 3.70 Hz frequency band. LIMITATIONS: The preterm group was highly heterogeneous in terms of gestational age and consisted of healthy preterm preschoolers. Moreover, the used paradigms are artificial and may not fully capture neural tuning in naturalistic social interactions. CONCLUSIONS: The diminished neural response to voices in the preterm children may potentially reflect the effects of atypical auditory exposure and premature visual exposure in the NICU environment or altered social experiences early in life. These findings contribute to our understanding of the socio-emotional and communicative development in preterm populations and may aid in identifying children at risk for psychopathology or subclinical socio-emotional difficulties. En ligne : https://dx.doi.org/10.1186/s13229-025-00672-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Social orienting in prematurely born preschoolers: a case control study showing altered neural tuning towards voices, not faces [texte imprimé] / Rowena VAN DEN BROECK, Auteur ; Lisa GISTELINCK, Auteur ; Sofie VETTORI, Auteur ; Ward DEFERM, Auteur ; Silke VOS, Auteur ; Bieke BOLLEN, Auteur ; Gunnar NAULAERS, Auteur ; Els ORTIBUS, Auteur ; Bart BOETS, Auteur ; Rowena Secondary VAN DEN BROECK, Auteur ; Lisa GISTELINCK, Auteur ; Sofie VETTORI, Auteur ; Ward DEFERM, Auteur ; Silke VOS, Auteur ; Bieke BOLLEN, Auteur ; Gunnar NAULAERS, Auteur ; Els ORTIBUS, Auteur ; Bart BOETS, Auteur . - 38. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 38 Mots-clés : Humans  Female  Male  Child, Preschool  Infant, Premature/physiology  Electroencephalography  Case-Control Studies  Voice  Social Behavior  Infant, Newborn  Face  Eeg  Faces  Frequency-tagging  Preschoolers  Preterm  Voices  performed in accordance with the Declaration of Helsinki and was approved by the  Medical Ethical Committee of UZ/KU Leuven (S58807). Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite advancements in neonatal care, premature infants remain at increased risk for cognitive and socio-emotional difficulties, collectively referred to as the preterm behavioral phenotype. A particular aspect of this phenotype is atypical social orienting, characterized by reduced attention towards socially relevant information, similar to what has been reported for autism spectrum disorder. METHODS: We monitored a cohort of prematurely born children from birth. At five years of age, we administered a series of frequency-tagging electroencephalography (EEG) paradigms to investigate their neural sensitivity to social cues, i.e., sensitivity for faces and voices. Frequency-tagging EEG utilizes fast periodic stimulation to elicit synchronized brain responses measurable in the frequency domain. In the preterm (N = 66) and in a matched full-term control group (N = 32), we applied two multi-input frequency-tagging EEG paradigms, simultaneously presenting streams of social and non-social stimuli, each tagged at different presentation rates. In the visual domain, we presented streams of faces and houses. In the auditory domain, we presented streams of voices and object sounds. We used linear mixed models to investigate the effects of group and stimulus type. RESULTS: All children showed an implicit social bias towards faces and voices. Compared to full-term peers, preterm preschoolers showed intact neural tuning to faces, but diminished neural tuning to voices, in particular in the speech-sensitive 3.70 Hz frequency band. LIMITATIONS: The preterm group was highly heterogeneous in terms of gestational age and consisted of healthy preterm preschoolers. Moreover, the used paradigms are artificial and may not fully capture neural tuning in naturalistic social interactions. CONCLUSIONS: The diminished neural response to voices in the preterm children may potentially reflect the effects of atypical auditory exposure and premature visual exposure in the NICU environment or altered social experiences early in life. These findings contribute to our understanding of the socio-emotional and communicative development in preterm populations and may aid in identifying children at risk for psychopathology or subclinical socio-emotional difficulties. En ligne : https://dx.doi.org/10.1186/s13229-025-00672-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children: an eye-tracking study / Zihui HUA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 39 Titre : Prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children: an eye-tracking study Type de document : texte imprimé Auteurs : Zihui HUA, Auteur ; Tianbi LI, Auteur ; Ruoxi SHI, Auteur ; Ran WEI, Auteur ; Li YI, Auteur ; Zihui Secondary HUA, Auteur ; Tianbi LI, Auteur ; Ruoxi SHI, Auteur ; Ran WEI, Auteur ; Li YI, Auteur Article en page(s) : 39 Langues : Anglais (eng) Mots-clés : Humans  Child  Male  Female  Comprehension/physiology  Child, Preschool  Autistic Disorder/physiopathology/psychology  Eye-Tracking Technology  Speech Perception  Language  Eye Movements  Autism  Children  Eye tracking  Incremental processing  Language comprehension  Language processing  Prediction  Predictive processing  by Peking University’s research ethics committee (approval number: 2024-02-11).  Written informed consent was obtained from the parents or legal guardians of all  participants prior to their participation. All procedures were conducted in  accordance with the Declaration of Helsinki. 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, with several theoretical perspectives proposing that difficulties in forming and updating predictions may underlie the cognitive profile of autism. However, research examining prediction in the language domain among autistic children remains limited, with inconsistent findings regarding prediction efficiency and insufficient investigation of how autistic children incrementally integrate multiple semantic elements during language processing. This study addresses these gaps by investigating both prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children compared to neurotypical peers. METHODS: Using the visual world paradigm, we compared 45 autistic children (3-8 years) with 52 age-, gender-, and verbal IQ-matched neurotypical children. Participants viewed arrays containing a target object and three semantically controlled distractors (agent-related, action-related, and unrelated) while listening to subject-verb-object structured sentences. Eye movements were recorded to analyze fixation proportions. We employed cluster-based permutation analysis to identify periods of sustained biased looking, growth curve analysis to compare fixation trajectories, and divergence point analysis to determine the onset timing of predictive looking. RESULTS: Both groups demonstrated predictions during spoken language comprehension and employed similar incremental processing strategies, showing increased fixations to both target objects and action-related distractors after verb onset despite the latter's incompatibility with the agent. However, autistic children exhibited reduced prediction efficiency compared to neurotypical peers, evidenced by significantly lower proportions of and slower growth rates in fixations to target objects relative to unrelated distractors, and delayed onset of predictive looking. Reduced prediction efficiency was associated with higher levels of autism symptom severity in the autistic group and increased autistic traits across both groups, with autism-related communication difficulties showing the most robust associations. LIMITATIONS: Our sample included only autistic children without language impairments, limiting generalizability to the broader autism spectrum. The task employed only simple sentence structures in controlled experimental settings, which may not fully capture language processing patterns in naturalistic communication contexts. CONCLUSIONS: While autistic children employ similar incremental processing strategies to neurotypical peers during language comprehension, they demonstrate reduced prediction efficiency. Autism symptom severity and autistic traits varied systematically with prediction efficiency, with autism-related communication difficulties showing the strongest associations. These findings enhance our understanding of language processing mechanisms in autism and suggest that interventions targeting language development might benefit from addressing prediction efficiency, such as providing additional processing time and gradually increasing the complexity of semantic integration tasks. En ligne : https://dx.doi.org/10.1186/s13229-025-00674-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children: an eye-tracking study [texte imprimé] / Zihui HUA, Auteur ; Tianbi LI, Auteur ; Ruoxi SHI, Auteur ; Ran WEI, Auteur ; Li YI, Auteur ; Zihui Secondary HUA, Auteur ; Tianbi LI, Auteur ; Ruoxi SHI, Auteur ; Ran WEI, Auteur ; Li YI, Auteur . - 39. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 39 Mots-clés : Humans  Child  Male  Female  Comprehension/physiology  Child, Preschool  Autistic Disorder/physiopathology/psychology  Eye-Tracking Technology  Speech Perception  Language  Eye Movements  Autism  Children  Eye tracking  Incremental processing  Language comprehension  Language processing  Prediction  Predictive processing  by Peking University’s research ethics committee (approval number: 2024-02-11).  Written informed consent was obtained from the parents or legal guardians of all  participants prior to their participation. All procedures were conducted in  accordance with the Declaration of Helsinki. 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, with several theoretical perspectives proposing that difficulties in forming and updating predictions may underlie the cognitive profile of autism. However, research examining prediction in the language domain among autistic children remains limited, with inconsistent findings regarding prediction efficiency and insufficient investigation of how autistic children incrementally integrate multiple semantic elements during language processing. This study addresses these gaps by investigating both prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children compared to neurotypical peers. METHODS: Using the visual world paradigm, we compared 45 autistic children (3-8 years) with 52 age-, gender-, and verbal IQ-matched neurotypical children. Participants viewed arrays containing a target object and three semantically controlled distractors (agent-related, action-related, and unrelated) while listening to subject-verb-object structured sentences. Eye movements were recorded to analyze fixation proportions. We employed cluster-based permutation analysis to identify periods of sustained biased looking, growth curve analysis to compare fixation trajectories, and divergence point analysis to determine the onset timing of predictive looking. RESULTS: Both groups demonstrated predictions during spoken language comprehension and employed similar incremental processing strategies, showing increased fixations to both target objects and action-related distractors after verb onset despite the latter's incompatibility with the agent. However, autistic children exhibited reduced prediction efficiency compared to neurotypical peers, evidenced by significantly lower proportions of and slower growth rates in fixations to target objects relative to unrelated distractors, and delayed onset of predictive looking. Reduced prediction efficiency was associated with higher levels of autism symptom severity in the autistic group and increased autistic traits across both groups, with autism-related communication difficulties showing the most robust associations. LIMITATIONS: Our sample included only autistic children without language impairments, limiting generalizability to the broader autism spectrum. The task employed only simple sentence structures in controlled experimental settings, which may not fully capture language processing patterns in naturalistic communication contexts. CONCLUSIONS: While autistic children employ similar incremental processing strategies to neurotypical peers during language comprehension, they demonstrate reduced prediction efficiency. Autism symptom severity and autistic traits varied systematically with prediction efficiency, with autism-related communication difficulties showing the strongest associations. These findings enhance our understanding of language processing mechanisms in autism and suggest that interventions targeting language development might benefit from addressing prediction efficiency, such as providing additional processing time and gradually increasing the complexity of semantic integration tasks. En ligne : https://dx.doi.org/10.1186/s13229-025-00674-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

The neural bases of language processing during social and non-social contexts: a fNIRS study of autistic and neurotypical preschool-aged children / M. PECUKONIS in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 40 Titre : The neural bases of language processing during social and non-social contexts: a fNIRS study of autistic and neurotypical preschool-aged children Type de document : texte imprimé Auteurs : M. PECUKONIS, Auteur ; J GERSON, Auteur ; H. GUSTAFSON-ALM, Auteur ; M. WOOD, Auteur ; M. YÜCEL, Auteur ; D. A. BOAS, Auteur ; H. TAGER-FLUSBERG, Auteur ; M. Secondary PECUKONIS, Auteur ; J GERSON, Auteur ; H. GUSTAFSON-ALM, Auteur ; M. WOOD, Auteur ; M. YÜCEL, Auteur ; D. A. BOAS, Auteur ; H. TAGER-FLUSBERG, Auteur Article en page(s) : 40 Langues : Anglais (eng) Mots-clés : Humans  Child, Preschool  Male  Female  Spectroscopy, Near-Infrared/methods  Child  Language  Brain/physiopathology/diagnostic imaging  Autistic Disorder/physiopathology  Autism Spectrum Disorder/physiopathology  Social Behavior  Autism  Live  Preschool  Social context  fNIRS  were conducted according to the guidelines of the Declaration of Helsinki,  including informed consent and assent prior to study inclusion, and approved by  the Institutional Review Board at Boston University (protocol #5334). Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Little is known about how autistic children's brains process language during real-world "social contexts," despite the fact that challenges with language, communication, and social interaction are core features of Autism Spectrum Disorder (ASD). METHODS: We investigated the neural bases of language processing during social and non-social contexts in a sample of autistic and neurotypical (NT) preschool-aged children, 3-6 years old, living in the United States. Functional near-infrared spectroscopy was used to measure children's brain response to "live language" spoken by a live experimenter during an in-person social context (i.e., book reading) and "recorded language" played via an audio recording during a non-social context (i.e., screen time). We examined within-group and between-group differences in the strength and localization of brain response to live language and recorded language, as well as correlations between children's brain response to live language versus recorded language and their language skills, as measured by the Preschool Language Scales. RESULTS: In the NT group, brain response to live language was greater than brain response to recorded language in the right temporal parietal junction (TPJ). In the ASD group, the strength of brain response did not differ between conditions in any brain regions of interest after correction for multiple comparisons. Children who showed a greater difference in right TPJ brain response to live language versus recorded language had higher language skills; this significant correlation was driven by the ASD group. LIMITATIONS: Findings should be considered preliminary until they are replicated in a larger sample. CONCLUSIONS: Group level findings indicate that for NT children, but not autistic children, the right TPJ responds more strongly to live language presented during a social context compared to recorded language presented during a non-social context. However, individual differences in how the right TPJ responds to language during social versus non-social contexts may help to explain why language skills are so variable across children on the autism spectrum. En ligne : https://dx.doi.org/10.1186/s13229-025-00655-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] The neural bases of language processing during social and non-social contexts: a fNIRS study of autistic and neurotypical preschool-aged children [texte imprimé] / M. PECUKONIS, Auteur ; J GERSON, Auteur ; H. GUSTAFSON-ALM, Auteur ; M. WOOD, Auteur ; M. YÜCEL, Auteur ; D. A. BOAS, Auteur ; H. TAGER-FLUSBERG, Auteur ; M. Secondary PECUKONIS, Auteur ; J GERSON, Auteur ; H. GUSTAFSON-ALM, Auteur ; M. WOOD, Auteur ; M. YÜCEL, Auteur ; D. A. BOAS, Auteur ; H. TAGER-FLUSBERG, Auteur . - 40. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 40 Mots-clés : Humans  Child, Preschool  Male  Female  Spectroscopy, Near-Infrared/methods  Child  Language  Brain/physiopathology/diagnostic imaging  Autistic Disorder/physiopathology  Autism Spectrum Disorder/physiopathology  Social Behavior  Autism  Live  Preschool  Social context  fNIRS  were conducted according to the guidelines of the Declaration of Helsinki,  including informed consent and assent prior to study inclusion, and approved by  the Institutional Review Board at Boston University (protocol #5334). Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Little is known about how autistic children's brains process language during real-world "social contexts," despite the fact that challenges with language, communication, and social interaction are core features of Autism Spectrum Disorder (ASD). METHODS: We investigated the neural bases of language processing during social and non-social contexts in a sample of autistic and neurotypical (NT) preschool-aged children, 3-6 years old, living in the United States. Functional near-infrared spectroscopy was used to measure children's brain response to "live language" spoken by a live experimenter during an in-person social context (i.e., book reading) and "recorded language" played via an audio recording during a non-social context (i.e., screen time). We examined within-group and between-group differences in the strength and localization of brain response to live language and recorded language, as well as correlations between children's brain response to live language versus recorded language and their language skills, as measured by the Preschool Language Scales. RESULTS: In the NT group, brain response to live language was greater than brain response to recorded language in the right temporal parietal junction (TPJ). In the ASD group, the strength of brain response did not differ between conditions in any brain regions of interest after correction for multiple comparisons. Children who showed a greater difference in right TPJ brain response to live language versus recorded language had higher language skills; this significant correlation was driven by the ASD group. LIMITATIONS: Findings should be considered preliminary until they are replicated in a larger sample. CONCLUSIONS: Group level findings indicate that for NT children, but not autistic children, the right TPJ responds more strongly to live language presented during a social context compared to recorded language presented during a non-social context. However, individual differences in how the right TPJ responds to language during social versus non-social contexts may help to explain why language skills are so variable across children on the autism spectrum. En ligne : https://dx.doi.org/10.1186/s13229-025-00655-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Locus coeruleus tonic upregulation increases selectivity to inconspicuous auditory information in autistic compared to non-autistic individuals: a combined pupillometry and electroencephalography study / Nico BAST in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 41 Titre : Locus coeruleus tonic upregulation increases selectivity to inconspicuous auditory information in autistic compared to non-autistic individuals: a combined pupillometry and electroencephalography study Type de document : texte imprimé Auteurs : Nico BAST, Auteur ; Jumana AHMAD, Auteur ; Luke MASON, Auteur ; Emily J H JONES, Auteur ; Magdalena MATYJEK, Auteur ; Leonie POLZER, Auteur ; Christina LUCKHARDT, Auteur ; Anna Katharina MÜLLER, Auteur ; Grainne M MCALONAN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Sarah BAUMEISTER, Auteur ; Eva LOTH, Auteur ; Christine M. FREITAG, Auteur ; Nico Secondary BAST, Auteur ; Jumana AHMAD, Auteur ; Luke MASON, Auteur ; Emily J H JONES, Auteur ; Magdalena MATYJEK, Auteur ; Leonie POLZER, Auteur ; Christina LUCKHARDT, Auteur ; Anna Katharina MÜLLER, Auteur ; Grainne M MCALONAN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Sarah BAUMEISTER, Auteur ; Eva LOTH, Auteur ; Christine M. FREITAG, Auteur Article en page(s) : 41 Langues : Anglais (eng) Mots-clés : Humans  Male  Electroencephalography/methods  Female  Autistic Disorder/physiopathology  Adult  Locus Coeruleus/physiopathology/metabolism  Young Adult  Pupil/physiology  Auditory Perception  Adolescent  Acoustic Stimulation  Up-Regulation  Case-Control Studies  Arousal  Auditory oddball paradigm  Autism spectrum condition  Mismatch negativity  Predictive coding  Pupillometry  (where appropriate) and their parent/legal guardian provided written informed  consent. Ethical approval for this study was obtained through ethics committees  at each site (King’s College London—London Queen Square Health Research Authority  Research Ethics Committee: 13/LO/1156  Autism Research Centre, University of  Cambridge—London Queen Square Health Research Authority Research Ethics  Committee: 13/LO/1156  Radboud University Medical Centre—Quality and Safety  Committee on Research Involving Human Subjects Arnhem-Nijmegen: 2013/455,  University Medical Centre Utrecht—- Quality and Safety Committee on Research  Involving Human Subjects Arnhem-Nijmegen: 2013/455  Central Insitute of Mental  Health—University Medical Mannheim, Medical Ethics Commission II: 2014-540N-MA  Universita Campus Bio-Medica De Roma—Medical Ethics Committee: 18/14 PAR ComET  CBM  Karolinska Intitute – Central Ethical Review Board: 32–2010). Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory processing requires selectivity to salient sensory input. Many autistic individuals report different sensory processing, which has been associated with altered sensory selectivity. The locus-coeruleus norepinephrine (LC-NE) system modulates the neuronal gain of sensory input, which represents a neurophysiological mechanism of sensory selectivity. In autistic individuals, we hypothesized that LC-NE tonic upregulation reduces sensory selectivity and underlies different sensory processing. METHODS: Autistic (n = 139) and non-autistic (n = 98) individuals were assessed during a passive auditory oddball task with pupillometry and electroencephalography. For every trial, a baseline pupil size (BPS) assessed LC-NE tonic activity that coincides with current arousal, while a stimulus-evoked pupillary response (SEPR) assessed LC-NE phasic activity that estimated sensory selectivity. Electroencephalography assessed amplitudes of mismatch negativity (MMN-amp) that estimated pre-attentive change detection as a brain-activity readout of sensory selectivity. Measures were modeled between groups within the task by combining Frequentist and Bayesian approaches. RESULTS: Across groups, higher BPS was associated with more negative MMN-amp to standards and oddballs. A more negative MMN-amp to standards was associated with a higher SEPR to standards. Controlling for these associations, autistic versus non-autistic individuals showed a higher SEPR in response to standards. In addition, a positive association of BPS and SEPR to standards was specific to autistic individuals. With task progression, autistic versus non-autistic individuals showed a higher initial increase and subsequently steeper decrease of BPS. This was supported by Bayesian posterior distribution estimates. LIMITATIONS: A short trial duration required concatenating trials to epochs and applying a linear-time invariant filter to capture the slow pupil changes. Without an LC-NE manipulation, we cannot rule out that pupil changes are evoked by other cortical pathways than the LC-NE. CONCLUSIONS: Across groups, LC-NE tonic upregulation is emphasized as a general mechanism that un-specifically increases pre-attentive change detection to all sensory stimuli, which then increases sensory selectivity to frequent stimuli. In autistic individuals, different sensory processing is characterized by increased sensory selectivity to frequent stimuli. This is likely caused by an LC-NE tonic upregulation. It associates autistic sensory processing with increased arousal upregulation that increases sensory selectivity to inconspicuous auditory information. En ligne : https://dx.doi.org/10.1186/s13229-025-00678-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Locus coeruleus tonic upregulation increases selectivity to inconspicuous auditory information in autistic compared to non-autistic individuals: a combined pupillometry and electroencephalography study [texte imprimé] / Nico BAST, Auteur ; Jumana AHMAD, Auteur ; Luke MASON, Auteur ; Emily J H JONES, Auteur ; Magdalena MATYJEK, Auteur ; Leonie POLZER, Auteur ; Christina LUCKHARDT, Auteur ; Anna Katharina MÜLLER, Auteur ; Grainne M MCALONAN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Sarah BAUMEISTER, Auteur ; Eva LOTH, Auteur ; Christine M. FREITAG, Auteur ; Nico Secondary BAST, Auteur ; Jumana AHMAD, Auteur ; Luke MASON, Auteur ; Emily J H JONES, Auteur ; Magdalena MATYJEK, Auteur ; Leonie POLZER, Auteur ; Christina LUCKHARDT, Auteur ; Anna Katharina MÜLLER, Auteur ; Grainne M MCALONAN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Sarah BAUMEISTER, Auteur ; Eva LOTH, Auteur ; Christine M. FREITAG, Auteur . - 41. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 41 Mots-clés : Humans  Male  Electroencephalography/methods  Female  Autistic Disorder/physiopathology  Adult  Locus Coeruleus/physiopathology/metabolism  Young Adult  Pupil/physiology  Auditory Perception  Adolescent  Acoustic Stimulation  Up-Regulation  Case-Control Studies  Arousal  Auditory oddball paradigm  Autism spectrum condition  Mismatch negativity  Predictive coding  Pupillometry  (where appropriate) and their parent/legal guardian provided written informed  consent. Ethical approval for this study was obtained through ethics committees  at each site (King’s College London—London Queen Square Health Research Authority  Research Ethics Committee: 13/LO/1156  Autism Research Centre, University of  Cambridge—London Queen Square Health Research Authority Research Ethics  Committee: 13/LO/1156  Radboud University Medical Centre—Quality and Safety  Committee on Research Involving Human Subjects Arnhem-Nijmegen: 2013/455,  University Medical Centre Utrecht—- Quality and Safety Committee on Research  Involving Human Subjects Arnhem-Nijmegen: 2013/455  Central Insitute of Mental  Health—University Medical Mannheim, Medical Ethics Commission II: 2014-540N-MA  Universita Campus Bio-Medica De Roma—Medical Ethics Committee: 18/14 PAR ComET  CBM  Karolinska Intitute – Central Ethical Review Board: 32–2010). Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory processing requires selectivity to salient sensory input. Many autistic individuals report different sensory processing, which has been associated with altered sensory selectivity. The locus-coeruleus norepinephrine (LC-NE) system modulates the neuronal gain of sensory input, which represents a neurophysiological mechanism of sensory selectivity. In autistic individuals, we hypothesized that LC-NE tonic upregulation reduces sensory selectivity and underlies different sensory processing. METHODS: Autistic (n = 139) and non-autistic (n = 98) individuals were assessed during a passive auditory oddball task with pupillometry and electroencephalography. For every trial, a baseline pupil size (BPS) assessed LC-NE tonic activity that coincides with current arousal, while a stimulus-evoked pupillary response (SEPR) assessed LC-NE phasic activity that estimated sensory selectivity. Electroencephalography assessed amplitudes of mismatch negativity (MMN-amp) that estimated pre-attentive change detection as a brain-activity readout of sensory selectivity. Measures were modeled between groups within the task by combining Frequentist and Bayesian approaches. RESULTS: Across groups, higher BPS was associated with more negative MMN-amp to standards and oddballs. A more negative MMN-amp to standards was associated with a higher SEPR to standards. Controlling for these associations, autistic versus non-autistic individuals showed a higher SEPR in response to standards. In addition, a positive association of BPS and SEPR to standards was specific to autistic individuals. With task progression, autistic versus non-autistic individuals showed a higher initial increase and subsequently steeper decrease of BPS. This was supported by Bayesian posterior distribution estimates. LIMITATIONS: A short trial duration required concatenating trials to epochs and applying a linear-time invariant filter to capture the slow pupil changes. Without an LC-NE manipulation, we cannot rule out that pupil changes are evoked by other cortical pathways than the LC-NE. CONCLUSIONS: Across groups, LC-NE tonic upregulation is emphasized as a general mechanism that un-specifically increases pre-attentive change detection to all sensory stimuli, which then increases sensory selectivity to frequent stimuli. In autistic individuals, different sensory processing is characterized by increased sensory selectivity to frequent stimuli. This is likely caused by an LC-NE tonic upregulation. It associates autistic sensory processing with increased arousal upregulation that increases sensory selectivity to inconspicuous auditory information. En ligne : https://dx.doi.org/10.1186/s13229-025-00678-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Social inference brain networks in autistic adults during movie-viewing: functional specialization and heterogeneity / Jasmin M. TURNER in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 42 Titre : Social inference brain networks in autistic adults during movie-viewing: functional specialization and heterogeneity Type de document : texte imprimé Auteurs : Jasmin M. TURNER, Auteur ; Lisa BYRGE, Auteur ; Hilary RICHARDSON, Auteur ; Paola GALDI, Auteur ; Daniel P. KENNEDY, Auteur ; Dorit KLIEMANN, Auteur ; Jasmin M. Secondary TURNER, Auteur ; Lisa BYRGE, Auteur ; Hilary RICHARDSON, Auteur ; Paola GALDI, Auteur ; Daniel P. KENNEDY, Auteur ; Dorit KLIEMANN, Auteur Article en page(s) : 42 Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Adult  Magnetic Resonance Imaging  Brain/physiopathology/diagnostic imaging  Autistic Disorder/physiopathology/psychology  Young Adult  Motion Pictures  Theory of Mind/physiology  Brain Mapping  Empathy  Social Behavior  Nerve Net/physiopathology  Autism Spectrum Disorder/physiopathology  Autism  Functional connectivity  Heterogeneity  Social cognition  Theory of mind  fMRI  informed consent in line with the Institutional Review Boards at the California  Institute of Technology and the Indiana University. Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulty in social inferences is a core feature in autism spectrum disorders (ASD). On the behavioral level, it remains unclear whether reasoning about others' mental states (Theory of Mind, ToM) and empathic responses to others' physical states may be similarly or differentially affected in autism. On the neural level, these inferences typically engage distinct brain networks (ToM versus Pain networks), but their functional specialization remains not well understood in autism. This study aimed to investigate the functional specialization, heterogeneity, and brain-behavior relationships of the ToM and Pain networks in autistic compared to neurotypical (NT) participants. We hypothesized differential functional network specialization (i.e., functional connectivity), increased heterogeneity, and less typical network responses specifically in the ToM network, with relatively similar responses in the Pain network in ASD. METHODS: Using functional magnetic resonance imaging (fMRI), we investigated neural responses in 107 adults (autistic: 34 (female = 11), NT: 73 (female = 23); matched for age, intellectual functioning, sex, motion) while they passively watched a short, animated movie including events that evoke reasoning about characters' mental states and bodily sensations. Preregistered analyses included regression models to assess inter-region correlation of within- and across-network connectivity, inter-subject correlation to quantify similarity to the average neurotypical, as well as to within- and across-group timecourse responses, and brain-behavior relationships relevant for social inferences. RESULTS: Functional specialization of ToM and Pain networks were overall intact, with distinct network responses in both groups. The autistic group showed differential ToM network responses and reduced similarity to the average typical response for both networks. Network responses were more idiosyncratic and heterogenous in the autistic group. Brain-behavior relationships differed between groups for ToM behavior only. LIMITATIONS: Effects between groups were overall small. Samples were acquired across two sites, yet the sample size restricts subgroup analyses that may further inform autistic heterogeneity and limits generalizability. CONCLUSIONS: We found weak evidence for greater differential responses in brain networks underlying ToM inferences than those involved in empathic responses in autism, consistent with a prior empathy imbalance hypothesis. We outline suggestions for replicating, generalizing and extending these results in future research. En ligne : https://dx.doi.org/10.1186/s13229-025-00669-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Social inference brain networks in autistic adults during movie-viewing: functional specialization and heterogeneity [texte imprimé] / Jasmin M. TURNER, Auteur ; Lisa BYRGE, Auteur ; Hilary RICHARDSON, Auteur ; Paola GALDI, Auteur ; Daniel P. KENNEDY, Auteur ; Dorit KLIEMANN, Auteur ; Jasmin M. Secondary TURNER, Auteur ; Lisa BYRGE, Auteur ; Hilary RICHARDSON, Auteur ; Paola GALDI, Auteur ; Daniel P. KENNEDY, Auteur ; Dorit KLIEMANN, Auteur . - 42. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 42 Mots-clés : Humans  Male  Female  Adult  Magnetic Resonance Imaging  Brain/physiopathology/diagnostic imaging  Autistic Disorder/physiopathology/psychology  Young Adult  Motion Pictures  Theory of Mind/physiology  Brain Mapping  Empathy  Social Behavior  Nerve Net/physiopathology  Autism Spectrum Disorder/physiopathology  Autism  Functional connectivity  Heterogeneity  Social cognition  Theory of mind  fMRI  informed consent in line with the Institutional Review Boards at the California  Institute of Technology and the Indiana University. Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulty in social inferences is a core feature in autism spectrum disorders (ASD). On the behavioral level, it remains unclear whether reasoning about others' mental states (Theory of Mind, ToM) and empathic responses to others' physical states may be similarly or differentially affected in autism. On the neural level, these inferences typically engage distinct brain networks (ToM versus Pain networks), but their functional specialization remains not well understood in autism. This study aimed to investigate the functional specialization, heterogeneity, and brain-behavior relationships of the ToM and Pain networks in autistic compared to neurotypical (NT) participants. We hypothesized differential functional network specialization (i.e., functional connectivity), increased heterogeneity, and less typical network responses specifically in the ToM network, with relatively similar responses in the Pain network in ASD. METHODS: Using functional magnetic resonance imaging (fMRI), we investigated neural responses in 107 adults (autistic: 34 (female = 11), NT: 73 (female = 23); matched for age, intellectual functioning, sex, motion) while they passively watched a short, animated movie including events that evoke reasoning about characters' mental states and bodily sensations. Preregistered analyses included regression models to assess inter-region correlation of within- and across-network connectivity, inter-subject correlation to quantify similarity to the average neurotypical, as well as to within- and across-group timecourse responses, and brain-behavior relationships relevant for social inferences. RESULTS: Functional specialization of ToM and Pain networks were overall intact, with distinct network responses in both groups. The autistic group showed differential ToM network responses and reduced similarity to the average typical response for both networks. Network responses were more idiosyncratic and heterogenous in the autistic group. Brain-behavior relationships differed between groups for ToM behavior only. LIMITATIONS: Effects between groups were overall small. Samples were acquired across two sites, yet the sample size restricts subgroup analyses that may further inform autistic heterogeneity and limits generalizability. CONCLUSIONS: We found weak evidence for greater differential responses in brain networks underlying ToM inferences than those involved in empathic responses in autism, consistent with a prior empathy imbalance hypothesis. We outline suggestions for replicating, generalizing and extending these results in future research. En ligne : https://dx.doi.org/10.1186/s13229-025-00669-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Correction to: Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice / Markus WÖHR in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 43 Titre : Correction to: Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice Type de document : texte imprimé Auteurs : Markus WÖHR, Auteur ; Wendy M. FONG, Auteur ; Justyna A. JANAS, Auteur ; Moritz MALL, Auteur ; Christian THOME, Auteur ; Madhuri VANGIPURAM, Auteur ; Lingjun MENG, Auteur ; Thomas C. SÜDHOF, Auteur ; Marius WERNIG, Auteur ; Markus Secondary WÖHR, Auteur ; Wendy M. FONG, Auteur ; Justyna A. JANAS, Auteur ; Moritz MALL, Auteur ; Christian THOME, Auteur ; Madhuri VANGIPURAM, Auteur ; Lingjun MENG, Auteur ; Thomas C. SÜDHOF, Auteur ; Marius WERNIG, Auteur Article en page(s) : 43 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s13229-025-00677-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Correction to: Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice [texte imprimé] / Markus WÖHR, Auteur ; Wendy M. FONG, Auteur ; Justyna A. JANAS, Auteur ; Moritz MALL, Auteur ; Christian THOME, Auteur ; Madhuri VANGIPURAM, Auteur ; Lingjun MENG, Auteur ; Thomas C. SÜDHOF, Auteur ; Marius WERNIG, Auteur ; Markus Secondary WÖHR, Auteur ; Wendy M. FONG, Auteur ; Justyna A. JANAS, Auteur ; Moritz MALL, Auteur ; Christian THOME, Auteur ; Madhuri VANGIPURAM, Auteur ; Lingjun MENG, Auteur ; Thomas C. SÜDHOF, Auteur ; Marius WERNIG, Auteur . - 43. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 43 Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s13229-025-00677-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Postural sway dynamics in adults across the autism spectrum: a multifactor approach / Bess F. BLOOMER in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 44 Titre : Postural sway dynamics in adults across the autism spectrum: a multifactor approach Type de document : texte imprimé Auteurs : Bess F. BLOOMER, Auteur ; Amanda R. BOLBECKER, Auteur ; Emily L. GILDEA, Auteur ; Daniel P. KENNEDY, Auteur ; Krista M. WISNER, Auteur ; Brian F. O'DONNELL, Auteur ; William P. HETRICK, Auteur ; Bess F. Secondary BLOOMER, Auteur ; Amanda R. BOLBECKER, Auteur ; Emily L. GILDEA, Auteur ; Daniel P. KENNEDY, Auteur ; Krista M. WISNER, Auteur ; Brian F. O'DONNELL, Auteur ; William P. HETRICK, Auteur Article en page(s) : 44 Langues : Anglais (eng) Mots-clés : Adults  Autism  Multiple factor analysis  Postural control  Postural sway  Rambling  Sway patterns  Trembling  obtained from all participants. All study procedures were approved by the Indiana  University Institutional Review Board and conducted in accordance with the  Declaration of Helsinki. Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Motor challenges are highly prevalent within autism, and increased postural sway has been consistently demonstrated in autistic youth. However, the extent to which sway anomalies extend into adulthood remains understudied. This study aimed to investigate whether increased postural sway is altered in autistic adults compared to neurotypical controls using established sway metrics including sway area and path, as well as rambling-trembling decomposition—an approach that differentiates the postural sway signal into central and peripheral nervous system components. METHODS: 49 adults with autism spectrum conditions (ASC) and 94 neurotypical controls (NC) participated in a postural sway task on a force platform with manipulations of visual input and stance width. Traditional geometric methods (sway area and path), the spatial characteristics of the body’s adjustment to maintain balance, were measured. As resulting sway measures often covary, multiple factor analysis (MFA) was applied to reduce the measures into distinct, non-redundant dimensions that simplified the data. Group comparisons were completed across these different levels of analysis. RESULTS: We observed increased sway path and medio-lateral trembling in ASC compared to NC (p < 0.05). Significant group by vision interactions revealed that ASC sway increases were more apparent in eyes-open conditions for sway area and rambling and trembling in the anterior-posterior plane (p < 0.01), possibly suggesting differential sensory reweighting of visual input by ASC, or difficulties with multisensory integration. MFA revealed two key dimensions. A fast frequency dimension, linked to peripheral processes, explained most of the overall variance (62.9%) and captured more variance in the ASC group than in NC. A slower frequency dimension, linked to central processes, explained 8.0% of the variance. LIMITATIONS: Order of sway conditions was consistent among all participants, so it is possible that participant fatigue influenced later sway conditions. CONCLUSIONS: Building upon previous research finding increased postural sway in autism, we found that combining multiple approaches collectively suggest the critical role of peripheral contributions and visual input in postural sway in autism. Fast-frequency processes that are peripherally-driven may be of particular importance in sway in autistic adults, and should be prioritized in future research to better understand balance performance in autism. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00676-y. En ligne : https://dx.doi.org/10.1186/s13229-025-00676-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Postural sway dynamics in adults across the autism spectrum: a multifactor approach [texte imprimé] / Bess F. BLOOMER, Auteur ; Amanda R. BOLBECKER, Auteur ; Emily L. GILDEA, Auteur ; Daniel P. KENNEDY, Auteur ; Krista M. WISNER, Auteur ; Brian F. O'DONNELL, Auteur ; William P. HETRICK, Auteur ; Bess F. Secondary BLOOMER, Auteur ; Amanda R. BOLBECKER, Auteur ; Emily L. GILDEA, Auteur ; Daniel P. KENNEDY, Auteur ; Krista M. WISNER, Auteur ; Brian F. O'DONNELL, Auteur ; William P. HETRICK, Auteur . - 44. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 44 Mots-clés : Adults  Autism  Multiple factor analysis  Postural control  Postural sway  Rambling  Sway patterns  Trembling  obtained from all participants. All study procedures were approved by the Indiana  University Institutional Review Board and conducted in accordance with the  Declaration of Helsinki. Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Motor challenges are highly prevalent within autism, and increased postural sway has been consistently demonstrated in autistic youth. However, the extent to which sway anomalies extend into adulthood remains understudied. This study aimed to investigate whether increased postural sway is altered in autistic adults compared to neurotypical controls using established sway metrics including sway area and path, as well as rambling-trembling decomposition—an approach that differentiates the postural sway signal into central and peripheral nervous system components. METHODS: 49 adults with autism spectrum conditions (ASC) and 94 neurotypical controls (NC) participated in a postural sway task on a force platform with manipulations of visual input and stance width. Traditional geometric methods (sway area and path), the spatial characteristics of the body’s adjustment to maintain balance, were measured. As resulting sway measures often covary, multiple factor analysis (MFA) was applied to reduce the measures into distinct, non-redundant dimensions that simplified the data. Group comparisons were completed across these different levels of analysis. RESULTS: We observed increased sway path and medio-lateral trembling in ASC compared to NC (p < 0.05). Significant group by vision interactions revealed that ASC sway increases were more apparent in eyes-open conditions for sway area and rambling and trembling in the anterior-posterior plane (p < 0.01), possibly suggesting differential sensory reweighting of visual input by ASC, or difficulties with multisensory integration. MFA revealed two key dimensions. A fast frequency dimension, linked to peripheral processes, explained most of the overall variance (62.9%) and captured more variance in the ASC group than in NC. A slower frequency dimension, linked to central processes, explained 8.0% of the variance. LIMITATIONS: Order of sway conditions was consistent among all participants, so it is possible that participant fatigue influenced later sway conditions. CONCLUSIONS: Building upon previous research finding increased postural sway in autism, we found that combining multiple approaches collectively suggest the critical role of peripheral contributions and visual input in postural sway in autism. Fast-frequency processes that are peripherally-driven may be of particular importance in sway in autistic adults, and should be prioritized in future research to better understand balance performance in autism. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00676-y. En ligne : https://dx.doi.org/10.1186/s13229-025-00676-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects / Claudia MILAZZO in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 45 Titre : UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects Type de document : texte imprimé Auteurs : Claudia MILAZZO, Auteur ; Ramanathan NARAYANAN, Auteur ; Solveig BADILLO, Auteur ; Silvia WANG, Auteur ; Rosaisela ALMAND, Auteur ; Roos MONSHOUWER, Auteur ; Manuel TZOUROS, Auteur ; Sabrina GOLLING, Auteur ; Edwin MIENTJES, Auteur ; Stormy CHAMBERLAIN, Auteur ; Thomas KREMER, Auteur ; Ype ELGERSMA, Auteur ; Claudia Secondary MILAZZO, Auteur ; Ramanathan NARAYANAN, Auteur ; Solveig BADILLO, Auteur ; Silvia WANG, Auteur ; Rosaisela ALMAND, Auteur ; Roos MONSHOUWER, Auteur ; Manuel TZOUROS, Auteur ; Sabrina GOLLING, Auteur ; Edwin MIENTJES, Auteur ; Stormy CHAMBERLAIN, Auteur ; Thomas KREMER, Auteur ; Ype ELGERSMA, Auteur Article en page(s) : 45 Langues : Anglais (eng) Mots-clés : Animals  Angelman Syndrome/genetics/metabolism  Ubiquitin-Protein Ligases/genetics/metabolism  Genomic Imprinting  Disease Models, Animal  Mice  Proteome/metabolism  Behavior, Animal  Male  Female  Oligonucleotides, Antisense  Angelman syndrome  Antisense oligonucleotide  Behavior  Imprinting defects  Mouse model  Proteome  were conducted in accordance with the European Commission Council Directive  2010/63/EU (CCD license AVD101002016791 and AVD10100202216352). Consent for  publication: All authors have approved the final manuscript and consent for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman Syndrome (AS) is a severe neurodevelopmental disorder with only symptomatic treatment currently available. The primary cause of AS is loss of functional UBE3A protein. This can be caused by deletions in the maternal 15q11-q13 region, maternal AS-imprinting center defects (mICD), paternal uniparental disomy of chromosome 15 (UPD) or mutations within the UBE3A gene. Current mouse models are Ube3a-centric and do not address expression changes of other genes in the 15q11-q13 locus on the pathophysiology of AS. This limits the ability to discern differences in therapeutic responses to current UBE3A-targeting strategies and hampers the identification of novel therapeutics/co-therapeutics. METHODS: Using a mouse line that harbors a maternally inherited mutation affecting the AS-PWS imprinting center ('mICD mice'), we studied the impact of the mICD or UPD AS subtype on behavior, seizure susceptibility and proteome. Additionally, by using mice overexpressing two copies of Ube3a or antisense oligonucleotide (ASO) targeting Ube3a-ATS, we analyzed the impact of bi-allelic Ube3a activation on behavior and proteome. RESULTS: mICD mice showed 80% reduction in UBE3A protein, bi-allelic expression of Ube3a-ATS and Mkrn3-Snord115 gene cluster, leading to robust AS behavioral deficits and proteome alterations similar to Ube3a(m-/p+) mice. Genetic UBE3A overexpression in mICD mice, mimicking therapeutic strategies that effectively activate the biallelic silenced Ube3a gene, resulted in a complete rescue of all behavioral phenotypes, seizure susceptibility and proteome alterations. Subsequently, treatment with an antisense oligonucleotide (ASO) to directly activate the biallelic silenced Ube3a gene in mICD mice also resulted in efficient reinstatement of UBE3A, 30% higher relative to WT, alongside a partial rescue of behavioral phenotypes. LIMITATIONS: Despite using a highly robust AS-specific behavioral battery, we did not investigate readouts such as neuronal activity and sleep, for which impairments in Ube3a(m-/p+) mice were described. CONCLUSIONS: Taken together, these findings demonstrate that the loss of UBE3A protein is the primary factor underlying AS phenotypes in this mICD/UPD mouse model of AS, while the biallelic expressed genes in this locus play either a marginal or yet unidentified role. These findings also corroborate UBE3A reinstatement as an attractive therapeutic strategy for AS individuals carrying an mICD or UPD mutation. En ligne : https://dx.doi.org/10.1186/s13229-025-00675-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects [texte imprimé] / Claudia MILAZZO, Auteur ; Ramanathan NARAYANAN, Auteur ; Solveig BADILLO, Auteur ; Silvia WANG, Auteur ; Rosaisela ALMAND, Auteur ; Roos MONSHOUWER, Auteur ; Manuel TZOUROS, Auteur ; Sabrina GOLLING, Auteur ; Edwin MIENTJES, Auteur ; Stormy CHAMBERLAIN, Auteur ; Thomas KREMER, Auteur ; Ype ELGERSMA, Auteur ; Claudia Secondary MILAZZO, Auteur ; Ramanathan NARAYANAN, Auteur ; Solveig BADILLO, Auteur ; Silvia WANG, Auteur ; Rosaisela ALMAND, Auteur ; Roos MONSHOUWER, Auteur ; Manuel TZOUROS, Auteur ; Sabrina GOLLING, Auteur ; Edwin MIENTJES, Auteur ; Stormy CHAMBERLAIN, Auteur ; Thomas KREMER, Auteur ; Ype ELGERSMA, Auteur . - 45. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 45 Mots-clés : Animals  Angelman Syndrome/genetics/metabolism  Ubiquitin-Protein Ligases/genetics/metabolism  Genomic Imprinting  Disease Models, Animal  Mice  Proteome/metabolism  Behavior, Animal  Male  Female  Oligonucleotides, Antisense  Angelman syndrome  Antisense oligonucleotide  Behavior  Imprinting defects  Mouse model  Proteome  were conducted in accordance with the European Commission Council Directive  2010/63/EU (CCD license AVD101002016791 and AVD10100202216352). Consent for  publication: All authors have approved the final manuscript and consent for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman Syndrome (AS) is a severe neurodevelopmental disorder with only symptomatic treatment currently available. The primary cause of AS is loss of functional UBE3A protein. This can be caused by deletions in the maternal 15q11-q13 region, maternal AS-imprinting center defects (mICD), paternal uniparental disomy of chromosome 15 (UPD) or mutations within the UBE3A gene. Current mouse models are Ube3a-centric and do not address expression changes of other genes in the 15q11-q13 locus on the pathophysiology of AS. This limits the ability to discern differences in therapeutic responses to current UBE3A-targeting strategies and hampers the identification of novel therapeutics/co-therapeutics. METHODS: Using a mouse line that harbors a maternally inherited mutation affecting the AS-PWS imprinting center ('mICD mice'), we studied the impact of the mICD or UPD AS subtype on behavior, seizure susceptibility and proteome. Additionally, by using mice overexpressing two copies of Ube3a or antisense oligonucleotide (ASO) targeting Ube3a-ATS, we analyzed the impact of bi-allelic Ube3a activation on behavior and proteome. RESULTS: mICD mice showed 80% reduction in UBE3A protein, bi-allelic expression of Ube3a-ATS and Mkrn3-Snord115 gene cluster, leading to robust AS behavioral deficits and proteome alterations similar to Ube3a(m-/p+) mice. Genetic UBE3A overexpression in mICD mice, mimicking therapeutic strategies that effectively activate the biallelic silenced Ube3a gene, resulted in a complete rescue of all behavioral phenotypes, seizure susceptibility and proteome alterations. Subsequently, treatment with an antisense oligonucleotide (ASO) to directly activate the biallelic silenced Ube3a gene in mICD mice also resulted in efficient reinstatement of UBE3A, 30% higher relative to WT, alongside a partial rescue of behavioral phenotypes. LIMITATIONS: Despite using a highly robust AS-specific behavioral battery, we did not investigate readouts such as neuronal activity and sleep, for which impairments in Ube3a(m-/p+) mice were described. CONCLUSIONS: Taken together, these findings demonstrate that the loss of UBE3A protein is the primary factor underlying AS phenotypes in this mICD/UPD mouse model of AS, while the biallelic expressed genes in this locus play either a marginal or yet unidentified role. These findings also corroborate UBE3A reinstatement as an attractive therapeutic strategy for AS individuals carrying an mICD or UPD mutation. En ligne : https://dx.doi.org/10.1186/s13229-025-00675-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Subcortical brain volume variations in autistic individuals across the lifespan / Danielle CHRISTENSEN in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 46 Titre : Subcortical brain volume variations in autistic individuals across the lifespan Type de document : texte imprimé Auteurs : Danielle CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur ; Danielle Secondary CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur Article en page(s) : 46 Langues : Anglais (eng) Mots-clés : Humans  Adult  Male  Female  Child  Middle Aged  Adolescent  Magnetic Resonance Imaging  Aged  Young Adult  Cross-Sectional Studies  Brain/pathology/diagnostic imaging  Autistic Disorder/pathology/diagnostic imaging  Organ Size  Amygdala/pathology/diagnostic imaging  Longevity  Autism Spectrum Disorder/pathology/diagnostic imaging  Hippocampus/pathology/diagnostic imaging  Basal Ganglia/pathology/diagnostic imaging  Aging  Amygdala  Autism spectrum disorder  Basal ganglia  Brain atrophy  Cerebral ventricles  Hippocampus  Lifespan  MRI  Institutional Review Boards (IRB) at UTSW and Children’s Hospital of Dallas  (STU052013-4  approval date: August 30, 2011), KU Medical Center (STUDY00140269  approval date: March 17, 2017), and UF (IRB201801378  approval date: July 26,  2022). Consent for publication: All participants provided their informed consent  regarding data handling procedures. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Structural alterations in subcortical brain regions-including the amygdala, hippocampus, basal ganglia, and cerebral ventricles-have been linked to various clinical features of autism spectrum disorder (ASD). However, volumetric features among these regions in autistic individuals across the lifespan remain poorly understood. This cross-sectional study aimed to investigate age-associated volumetric deviations in these clinically implicated subcortical regions of autistic individuals and neurotypical controls, and to examine the structural interrelationships within each group. METHODS: We examined multi-site T1-weighted MRI data from 119 autistic and 122 neurotypical participants aged 7-73 years. Volumetric data for the amygdala, hippocampus, basal ganglia, and cerebral ventricles were harmonized across sites using the ComBat algorithm. Following this, volumetric composite indices (principal component scores) were extracted for each region using principal component analysis. These scores represent dominant volumetric patterns of each subcortical region, with higher values reflecting greater volume. These composite scores were then compared between groups and with increasing age. RESULTS: Autistic participants exhibited greater amygdala volume in early life, followed by more pronounced age-associated reductions in adulthood compared to neurotypical controls. A similar trend was observed for the hippocampus, with early volumetric enlargement giving way to steeper declines in later years. In contrast, the autistic group consistently trended towards larger basal ganglia across the lifespan. Additionally, autistic participants showed accelerated enlargement in the cerebral ventricles with increasing age. Both groups exhibited patterns of inverse volumetric associations between the cerebral ventricles and surrounding subcortical regions in later adulthood; however, these relationships were more pronounced and widely distributed in the autistic group. LIMITATIONS: The cross-sectional design of this study limited us from capturing intra-individual differences at baseline and quantifying the lifespan trajectories of each participant. Site-related sampling differences may have introduced cohort bias in the results. CONCLUSIONS: Autistic participants and neurotypical controls exhibit distinct, age-related volumetric patterns across key subcortical brain regions. Enlargement of the cerebral ventricles and their inverse structural relationships with neighboring structures in later life may indicate atrophic processes beginning in middle adulthood in ASD. These findings highlight the need to further investigate mechanisms of atypical brain aging in ASD and consider these subcortical brain regions as potential biomarkers of neurodegeneration and intervention targets across the adult lifespan. En ligne : https://dx.doi.org/10.1186/s13229-025-00673-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Subcortical brain volume variations in autistic individuals across the lifespan [texte imprimé] / Danielle CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur ; Danielle Secondary CHRISTENSEN, Auteur ; Young Seon SHIN, Auteur ; Jingying WANG, Auteur ; Carolina R. CUOMO, Auteur ; Tyler DENTRY, Auteur ; Hanna M. GEMMELL, Auteur ; Stormi L. PULVER, Auteur ; Ann-Marie ORLANDO, Auteur ; Walker S. MCKINNEY, Auteur ; Cassie J. STEVENS, Auteur ; Kathryn E. UNRUH, Auteur ; Bikram KARMAKAR, Auteur ; Stephen A. COOMBES, Auteur ; Matthew W. MOSCONI, Auteur ; Zheng WANG, Auteur . - 46. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 46 Mots-clés : Humans  Adult  Male  Female  Child  Middle Aged  Adolescent  Magnetic Resonance Imaging  Aged  Young Adult  Cross-Sectional Studies  Brain/pathology/diagnostic imaging  Autistic Disorder/pathology/diagnostic imaging  Organ Size  Amygdala/pathology/diagnostic imaging  Longevity  Autism Spectrum Disorder/pathology/diagnostic imaging  Hippocampus/pathology/diagnostic imaging  Basal Ganglia/pathology/diagnostic imaging  Aging  Amygdala  Autism spectrum disorder  Basal ganglia  Brain atrophy  Cerebral ventricles  Hippocampus  Lifespan  MRI  Institutional Review Boards (IRB) at UTSW and Children’s Hospital of Dallas  (STU052013-4  approval date: August 30, 2011), KU Medical Center (STUDY00140269  approval date: March 17, 2017), and UF (IRB201801378  approval date: July 26,  2022). Consent for publication: All participants provided their informed consent  regarding data handling procedures. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Structural alterations in subcortical brain regions-including the amygdala, hippocampus, basal ganglia, and cerebral ventricles-have been linked to various clinical features of autism spectrum disorder (ASD). However, volumetric features among these regions in autistic individuals across the lifespan remain poorly understood. This cross-sectional study aimed to investigate age-associated volumetric deviations in these clinically implicated subcortical regions of autistic individuals and neurotypical controls, and to examine the structural interrelationships within each group. METHODS: We examined multi-site T1-weighted MRI data from 119 autistic and 122 neurotypical participants aged 7-73 years. Volumetric data for the amygdala, hippocampus, basal ganglia, and cerebral ventricles were harmonized across sites using the ComBat algorithm. Following this, volumetric composite indices (principal component scores) were extracted for each region using principal component analysis. These scores represent dominant volumetric patterns of each subcortical region, with higher values reflecting greater volume. These composite scores were then compared between groups and with increasing age. RESULTS: Autistic participants exhibited greater amygdala volume in early life, followed by more pronounced age-associated reductions in adulthood compared to neurotypical controls. A similar trend was observed for the hippocampus, with early volumetric enlargement giving way to steeper declines in later years. In contrast, the autistic group consistently trended towards larger basal ganglia across the lifespan. Additionally, autistic participants showed accelerated enlargement in the cerebral ventricles with increasing age. Both groups exhibited patterns of inverse volumetric associations between the cerebral ventricles and surrounding subcortical regions in later adulthood; however, these relationships were more pronounced and widely distributed in the autistic group. LIMITATIONS: The cross-sectional design of this study limited us from capturing intra-individual differences at baseline and quantifying the lifespan trajectories of each participant. Site-related sampling differences may have introduced cohort bias in the results. CONCLUSIONS: Autistic participants and neurotypical controls exhibit distinct, age-related volumetric patterns across key subcortical brain regions. Enlargement of the cerebral ventricles and their inverse structural relationships with neighboring structures in later life may indicate atrophic processes beginning in middle adulthood in ASD. These findings highlight the need to further investigate mechanisms of atypical brain aging in ASD and consider these subcortical brain regions as potential biomarkers of neurodegeneration and intervention targets across the adult lifespan. En ligne : https://dx.doi.org/10.1186/s13229-025-00673-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome / Rana ELMAGHRABY in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 49 Titre : Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome Type de document : texte imprimé Auteurs : Rana ELMAGHRABY, Auteur ; Yanchen LIU, Auteur ; Priya RAMESH, Auteur ; Grace WESTERKAMP, Auteur ; Meredith A. NELSON, Auteur ; Travis LARSH, Auteur ; Elizabeth SMITH, Auteur ; Donald L. GILBERT, Auteur ; Steve W. WU, Auteur ; Craig A. ERICKSON, Auteur ; Ernest V. PEDAPATI, Auteur ; Rana Secondary ELMAGHRABY, Auteur ; Yanchen LIU, Auteur ; Priya RAMESH, Auteur ; Grace WESTERKAMP, Auteur ; Meredith A. NELSON, Auteur ; Travis LARSH, Auteur ; Elizabeth SMITH, Auteur ; Donald L. GILBERT, Auteur ; Steve W. WU, Auteur ; Craig A. ERICKSON, Auteur ; Ernest V. PEDAPATI, Auteur Article en page(s) : 49 Langues : Anglais (eng) Mots-clés : Humans  Fragile X Syndrome/physiopathology  Male  Female  Cortical Excitability/physiology  Young Adult  Adult  Electroencephalography  Adolescent  Alpha Rhythm  Case-Control Studies  Aperiodic slope  Cortical excitability  Eeg  Fragile X syndrome  Sex differences  Source localization  SpecParam Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is characterized by cortical hyperexcitability, a core neurophysiological feature that contributes to sensory hypersensitivity, cognitive dysfunction, and other disabling symptoms. This disruption in excitatory-inhibitory balance is a key pharmacological target, yet reliable biomarkers to quantify it noninvasively remain limited. Spectral slope, derived from the aperiodic component of the EEG power spectrum, has emerged as a potential index of cortical excitability. Here, we evaluated spectral slope and theta-alpha peak frequency in individuals with FXS to assess their utility as candidate neurophysiological biomarkers. METHODS: Five minutes of resting state EEG data were collected from 70 subjects with FXS (mean age 20.5 ± 10 years; 32 females) and 71 age-matched controls (mean age 22.2 ± 10.7 years; 30 females). The Spectral Parameterization toolbox (SpecParam) was used to separate periodic and aperiodic components of the source localized power spectra and characterize aperiodic slope and theta-alpha peak frequency. RESULTS: Statistical modeling of aperiodic slope revealed a significant two-way interaction between sex and diagnostic group, but no interaction with brain lobe. Among males, the aperiodic slope was significantly decreased in FXS, indicating greater cortical excitability, compared to typically developing controls (TDC), whereas no difference was observed between FXS and TDC females. For peak alpha frequency, statistical modeling identified significant two-way interactions between sex and diagnostic group, and between brain lobe and diagnostic group, but no significant three-way interaction. LIMITATIONS: This study is limited by the absence of non-invasive measures of cortical fragile X mental retardation protein (FMRP). Additionally, participants were not stratified by mosaic status and FMRP levels were not quantified, which could affect variability and interpretation. CONCLUSION: Compared to traditional band-limited power measures, aperiodic slope provides a more direct and validated index of excitation-inhibition balance. Our findings of reduced aperiodic slope in male subjects with FXS align with preclinical circuit-level evidence of increased excitability in FXS and are consistent with previous findings of reduced individual alpha peak frequency, supporting with thalamocortical dysrhythmia models of FXS. Importantly, aperiodic slope measurements can be applied directly to various modalities of local field potential data, enabling more robust cross-species and translational comparisons. En ligne : https://dx.doi.org/10.1186/s13229-025-00682-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome [texte imprimé] / Rana ELMAGHRABY, Auteur ; Yanchen LIU, Auteur ; Priya RAMESH, Auteur ; Grace WESTERKAMP, Auteur ; Meredith A. NELSON, Auteur ; Travis LARSH, Auteur ; Elizabeth SMITH, Auteur ; Donald L. GILBERT, Auteur ; Steve W. WU, Auteur ; Craig A. ERICKSON, Auteur ; Ernest V. PEDAPATI, Auteur ; Rana Secondary ELMAGHRABY, Auteur ; Yanchen LIU, Auteur ; Priya RAMESH, Auteur ; Grace WESTERKAMP, Auteur ; Meredith A. NELSON, Auteur ; Travis LARSH, Auteur ; Elizabeth SMITH, Auteur ; Donald L. GILBERT, Auteur ; Steve W. WU, Auteur ; Craig A. ERICKSON, Auteur ; Ernest V. PEDAPATI, Auteur . - 49. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 49 Mots-clés : Humans  Fragile X Syndrome/physiopathology  Male  Female  Cortical Excitability/physiology  Young Adult  Adult  Electroencephalography  Adolescent  Alpha Rhythm  Case-Control Studies  Aperiodic slope  Cortical excitability  Eeg  Fragile X syndrome  Sex differences  Source localization  SpecParam Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is characterized by cortical hyperexcitability, a core neurophysiological feature that contributes to sensory hypersensitivity, cognitive dysfunction, and other disabling symptoms. This disruption in excitatory-inhibitory balance is a key pharmacological target, yet reliable biomarkers to quantify it noninvasively remain limited. Spectral slope, derived from the aperiodic component of the EEG power spectrum, has emerged as a potential index of cortical excitability. Here, we evaluated spectral slope and theta-alpha peak frequency in individuals with FXS to assess their utility as candidate neurophysiological biomarkers. METHODS: Five minutes of resting state EEG data were collected from 70 subjects with FXS (mean age 20.5 ± 10 years; 32 females) and 71 age-matched controls (mean age 22.2 ± 10.7 years; 30 females). The Spectral Parameterization toolbox (SpecParam) was used to separate periodic and aperiodic components of the source localized power spectra and characterize aperiodic slope and theta-alpha peak frequency. RESULTS: Statistical modeling of aperiodic slope revealed a significant two-way interaction between sex and diagnostic group, but no interaction with brain lobe. Among males, the aperiodic slope was significantly decreased in FXS, indicating greater cortical excitability, compared to typically developing controls (TDC), whereas no difference was observed between FXS and TDC females. For peak alpha frequency, statistical modeling identified significant two-way interactions between sex and diagnostic group, and between brain lobe and diagnostic group, but no significant three-way interaction. LIMITATIONS: This study is limited by the absence of non-invasive measures of cortical fragile X mental retardation protein (FMRP). Additionally, participants were not stratified by mosaic status and FMRP levels were not quantified, which could affect variability and interpretation. CONCLUSION: Compared to traditional band-limited power measures, aperiodic slope provides a more direct and validated index of excitation-inhibition balance. Our findings of reduced aperiodic slope in male subjects with FXS align with preclinical circuit-level evidence of increased excitability in FXS and are consistent with previous findings of reduced individual alpha peak frequency, supporting with thalamocortical dysrhythmia models of FXS. Importantly, aperiodic slope measurements can be applied directly to various modalities of local field potential data, enabling more robust cross-species and translational comparisons. En ligne : https://dx.doi.org/10.1186/s13229-025-00682-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Different exploration strategies along the autism spectrum: diverging effects of autism diagnosis and autism traits / Fien GOETMAECKERS in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 47 Titre : Different exploration strategies along the autism spectrum: diverging effects of autism diagnosis and autism traits Type de document : texte imprimé Auteurs : Fien GOETMAECKERS, Auteur ; Judith GORIS, Auteur ; Jan R. WIERSEMA, Auteur ; Tom VERGUTS, Auteur ; Senne BRAEM, Auteur ; Fien Secondary GOETMAECKERS, Auteur ; Judith GORIS, Auteur ; Jan R. WIERSEMA, Auteur ; Tom VERGUTS, Auteur ; Senne BRAEM, Auteur Article en page(s) : 47 Langues : Anglais (eng) Mots-clés : Autism  Computational cognitive modeling  Exploration  Uncertainty  Value-based decision-making  by the Ethics Committee of the Faculty of Psychological and Pedagogical Sciences  of Ghent University and all participants gave their informed consent. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: When faced with many options to choose from, humans typically need to explore the utility of new choice options. People with an autism diagnosis or elevated autism traits are thought to avoid exploring such unknown options, but it remains unclear how autism affects exploration in decision spaces with many options. METHODS: In a large online sample (N = 588), we investigated the impact of autism diagnosis or elevated autism traits on exploration behavior during value-based decision-making in vast decision spaces. We used a 121-armed bandit with spatially correlated choice options, and a dedicated computational model to disentangle generalization, uncertainty-guided exploration, and random exploration strategies. RESULTS: Our findings show that participants with a self-reported autism diagnosis were less likely to explore novel choice options and more likely to exploit known high-value options. Computational modeling suggests they engaged in less uncertainty-driven exploration but exhibited equal random exploration and generalization strategies. Interestingly, among non-diagnosed participants, people with elevated autism traits did not explore less. LIMITATIONS: This study relies on self-reported autism diagnoses and trait measures collected online. This may limit the generalizability of the findings to clinically verified or more diverse autism populations. CONCLUSIONS: Our findings highlight important differences in exploration strategies between clinical and subclinical populations and emphasize the importance of cognitive modeling and using vast decision spaces to better understand autism. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00679-9. En ligne : https://dx.doi.org/10.1186/s13229-025-00679-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Different exploration strategies along the autism spectrum: diverging effects of autism diagnosis and autism traits [texte imprimé] / Fien GOETMAECKERS, Auteur ; Judith GORIS, Auteur ; Jan R. WIERSEMA, Auteur ; Tom VERGUTS, Auteur ; Senne BRAEM, Auteur ; Fien Secondary GOETMAECKERS, Auteur ; Judith GORIS, Auteur ; Jan R. WIERSEMA, Auteur ; Tom VERGUTS, Auteur ; Senne BRAEM, Auteur . - 47. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 47 Mots-clés : Autism  Computational cognitive modeling  Exploration  Uncertainty  Value-based decision-making  by the Ethics Committee of the Faculty of Psychological and Pedagogical Sciences  of Ghent University and all participants gave their informed consent. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: When faced with many options to choose from, humans typically need to explore the utility of new choice options. People with an autism diagnosis or elevated autism traits are thought to avoid exploring such unknown options, but it remains unclear how autism affects exploration in decision spaces with many options. METHODS: In a large online sample (N = 588), we investigated the impact of autism diagnosis or elevated autism traits on exploration behavior during value-based decision-making in vast decision spaces. We used a 121-armed bandit with spatially correlated choice options, and a dedicated computational model to disentangle generalization, uncertainty-guided exploration, and random exploration strategies. RESULTS: Our findings show that participants with a self-reported autism diagnosis were less likely to explore novel choice options and more likely to exploit known high-value options. Computational modeling suggests they engaged in less uncertainty-driven exploration but exhibited equal random exploration and generalization strategies. Interestingly, among non-diagnosed participants, people with elevated autism traits did not explore less. LIMITATIONS: This study relies on self-reported autism diagnoses and trait measures collected online. This may limit the generalizability of the findings to clinically verified or more diverse autism populations. CONCLUSIONS: Our findings highlight important differences in exploration strategies between clinical and subclinical populations and emphasize the importance of cognitive modeling and using vast decision spaces to better understand autism. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00679-9. En ligne : https://dx.doi.org/10.1186/s13229-025-00679-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Autistic traits are associated with lower perceived executive function but not poorer executive function task performance in the general population: complementary meta-analytic evidence / Michael K. YEUNG in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 48 Titre : Autistic traits are associated with lower perceived executive function but not poorer executive function task performance in the general population: complementary meta-analytic evidence Type de document : texte imprimé Auteurs : Michael K. YEUNG, Auteur ; Cassie T. Y. LI, Auteur ; Harris C. W. CHUNG, Auteur ; Tsz-Hei AU, Auteur ; Sin-Yue LEE, Auteur ; Jieru BAI, Auteur ; Michael K. Secondary YEUNG, Auteur ; Cassie T. Y. LI, Auteur ; Harris C. W. CHUNG, Auteur ; Tsz-Hei AU, Auteur ; Sin-Yue LEE, Auteur ; Jieru BAI, Auteur Article en page(s) : 48 Langues : Anglais (eng) Mots-clés : Humans  Executive Function/physiology  Autistic Disorder/psychology/physiopathology  Male  Adult  Bayes Theorem  Aq  Autism spectrum quotient  Autistic traits  Executive function  Meta-analysis  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic individuals generally exhibit real-world executive function (EF) difficulties and perform poorly on EF tasks. However, while autistic traits are distributed continuously throughout the general population, the relationships between autistic traits and EF among nonclinical individuals remain unclear. Here, we conducted complementary meta-analyses to clarify the relationships between autistic traits and various aspects of EF in the general population. METHODS: A literature search was conducted using PubMed, PsycINFO, and Web of Science on July 11, 2025. After screening by two independent reviewers, 39 articles that reported 40 studies were included. These studies either compared EF between groups with high and low autistic traits, based on a cutoff, or investigated the relationships between continuous measures of autistic traits and EF. RESULTS: We found significant negative associations between autistic traits and EF among nonclinical individuals across EF processes. Notably, these relationships were observed only when EFs were measured using questionnaires rather than behavioral tasks. Specifically, random-effects and robust Bayesian meta-analyses revealed significant, strong correlations between higher autistic traits and poorer ratings on EF questionnaires, with primarily substantial evidence supporting the presence than absence of relationships. In contrast, the meta-analyses indicated nonsignificant, very weak correlations between higher autistic traits and poorer performances on EF tasks, with primarily substantial evidence supporting the absence than presence of relationships. LIMITATIONS: These findings were mainly based on self-reported measures of autistic traits in adults and derived from single studies without follow up or replication. CONCLUSIONS: Autistic traits are associated with lower perceived real-world EF behavior rather than poorer EF task performance in the general population. These findings underscore the importance of paying closer attention to addressing the concerns of individuals with high autistic traits and their parents regarding their own and their children's EF behavior. Based on the available evidence, we construct a picture of the relationships between autistic traits and EF across the trait's continuum. REGISTRATION: This study was preregistered at https://osf.io/zncv3 . En ligne : https://dx.doi.org/10.1186/s13229-025-00680-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Autistic traits are associated with lower perceived executive function but not poorer executive function task performance in the general population: complementary meta-analytic evidence [texte imprimé] / Michael K. YEUNG, Auteur ; Cassie T. Y. LI, Auteur ; Harris C. W. CHUNG, Auteur ; Tsz-Hei AU, Auteur ; Sin-Yue LEE, Auteur ; Jieru BAI, Auteur ; Michael K. Secondary YEUNG, Auteur ; Cassie T. Y. LI, Auteur ; Harris C. W. CHUNG, Auteur ; Tsz-Hei AU, Auteur ; Sin-Yue LEE, Auteur ; Jieru BAI, Auteur . - 48. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 48 Mots-clés : Humans  Executive Function/physiology  Autistic Disorder/psychology/physiopathology  Male  Adult  Bayes Theorem  Aq  Autism spectrum quotient  Autistic traits  Executive function  Meta-analysis  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autistic individuals generally exhibit real-world executive function (EF) difficulties and perform poorly on EF tasks. However, while autistic traits are distributed continuously throughout the general population, the relationships between autistic traits and EF among nonclinical individuals remain unclear. Here, we conducted complementary meta-analyses to clarify the relationships between autistic traits and various aspects of EF in the general population. METHODS: A literature search was conducted using PubMed, PsycINFO, and Web of Science on July 11, 2025. After screening by two independent reviewers, 39 articles that reported 40 studies were included. These studies either compared EF between groups with high and low autistic traits, based on a cutoff, or investigated the relationships between continuous measures of autistic traits and EF. RESULTS: We found significant negative associations between autistic traits and EF among nonclinical individuals across EF processes. Notably, these relationships were observed only when EFs were measured using questionnaires rather than behavioral tasks. Specifically, random-effects and robust Bayesian meta-analyses revealed significant, strong correlations between higher autistic traits and poorer ratings on EF questionnaires, with primarily substantial evidence supporting the presence than absence of relationships. In contrast, the meta-analyses indicated nonsignificant, very weak correlations between higher autistic traits and poorer performances on EF tasks, with primarily substantial evidence supporting the absence than presence of relationships. LIMITATIONS: These findings were mainly based on self-reported measures of autistic traits in adults and derived from single studies without follow up or replication. CONCLUSIONS: Autistic traits are associated with lower perceived real-world EF behavior rather than poorer EF task performance in the general population. These findings underscore the importance of paying closer attention to addressing the concerns of individuals with high autistic traits and their parents regarding their own and their children's EF behavior. Based on the available evidence, we construct a picture of the relationships between autistic traits and EF across the trait's continuum. REGISTRATION: This study was preregistered at https://osf.io/zncv3 . En ligne : https://dx.doi.org/10.1186/s13229-025-00680-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569