Dépouillements

Assessing the psychometric properties of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) in a clinical setting in the Chinese mainland / Wuxia Enid BAI in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Assessing the psychometric properties of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) in a clinical setting in the Chinese mainland Type de document : texte imprimé Auteurs : Wuxia Enid BAI, Auteur ; Elinda Ai Lim LEE, Auteur ; Bahareh AFSHARNEJAD, Auteur ; HuiJun CHIH, Auteur ; Richard PARSONS, Auteur ; Xiaobing ZOU, Auteur ; Hongzhu DENG, Auteur ; Huilin ZHU, Auteur ; Sven BÖLTE, Auteur ; Sonya GIRDLER, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The awareness of autism spectrum condition (ASC) and the estimated prevalence rate are lower in the context of the Chinese mainland, compared to western countries. The Chinese adaptation of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) has been widely used in the diagnostic process of ASC for many years despite its psychometric properties not having been established in a large clinical sample. Thus, the purpose of this study was to evaluate the metrics of the ADOS-G in a well characterized sample from a renowned child developmental-behavioural centre that provides clinical services to a nationwide reach of people in China. En ligne : https://doi.org/10.1186/s13229-026-00702-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Assessing the psychometric properties of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) in a clinical setting in the Chinese mainland [texte imprimé] / Wuxia Enid BAI, Auteur ; Elinda Ai Lim LEE, Auteur ; Bahareh AFSHARNEJAD, Auteur ; HuiJun CHIH, Auteur ; Richard PARSONS, Auteur ; Xiaobing ZOU, Auteur ; Hongzhu DENG, Auteur ; Huilin ZHU, Auteur ; Sven BÖLTE, Auteur ; Sonya GIRDLER, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : The awareness of autism spectrum condition (ASC) and the estimated prevalence rate are lower in the context of the Chinese mainland, compared to western countries. The Chinese adaptation of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) has been widely used in the diagnostic process of ASC for many years despite its psychometric properties not having been established in a large clinical sample. Thus, the purpose of this study was to evaluate the metrics of the ADOS-G in a well characterized sample from a renowned child developmental-behavioural centre that provides clinical services to a nationwide reach of people in China. En ligne : https://doi.org/10.1186/s13229-026-00702-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

A systematic review of statistical learning in autism spectrum disorder / Rebecca R. BELL in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : A systematic review of statistical learning in autism spectrum disorder Type de document : texte imprimé Auteurs : Rebecca R. BELL, Auteur ; Hannah R. THOMAS, Auteur ; Jenny R. SAFFRAN, Auteur ; Inge-Marie EIGSTI, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Statistical learning, the ability to detect and extract statistical regularities from the environment, has been proposed as a key mechanism underlying language, social, and cognitive development. Numerous studies have examined statistical learning abilities in autistic individuals to test the hypothesis that differences contribute to the behavioral presentation of autism spectrum disorder (ASD). Findings have been inconsistent, with variations in methodology, sensory modality, and participant characteristics complicating the interpretation of results. The current study presents a systematic review of statistical, implicit, and procedural learning studies in autism, considering how statistical learning abilities vary across (a) modality (e.g., auditory versus visual), (b) methodology (e.g., behavioral versus neuroimaging), and (c) task design, and considering the influence of language and cognitive abilities. Results across 37 studies in visual and auditory modalities indicate few behavioral differences in statistical learning abilities (with the exception of slowed reaction times in autism), and that learning may benefit from extended exposure and explicit cues. In contrast, neuroimaging findings reveal substantial variability in the neural mechanisms implicated in these tasks, with evidence suggesting compensatory cognitive processing in some autistic samples. Individual differences in language, cognitive abilities, and autism-related traits strongly influence statistical learning outcomes. Significant gaps remain, particularly in the inclusion of minimally verbal individuals and those with intellectual disabilities. Methodological heterogeneity, skewed gender and sociodemographic sample characteristics, and inconsistent neural findings highlight the need for more standardized approaches in future research. Understanding the mechanisms of statistical learning in autism has critical implications for language and cognitive interventions, emphasizing the importance of individualized support strategies. En ligne : https://doi.org/10.1186/s13229-025-00697-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] A systematic review of statistical learning in autism spectrum disorder [texte imprimé] / Rebecca R. BELL, Auteur ; Hannah R. THOMAS, Auteur ; Jenny R. SAFFRAN, Auteur ; Inge-Marie EIGSTI, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Statistical learning, the ability to detect and extract statistical regularities from the environment, has been proposed as a key mechanism underlying language, social, and cognitive development. Numerous studies have examined statistical learning abilities in autistic individuals to test the hypothesis that differences contribute to the behavioral presentation of autism spectrum disorder (ASD). Findings have been inconsistent, with variations in methodology, sensory modality, and participant characteristics complicating the interpretation of results. The current study presents a systematic review of statistical, implicit, and procedural learning studies in autism, considering how statistical learning abilities vary across (a) modality (e.g., auditory versus visual), (b) methodology (e.g., behavioral versus neuroimaging), and (c) task design, and considering the influence of language and cognitive abilities. Results across 37 studies in visual and auditory modalities indicate few behavioral differences in statistical learning abilities (with the exception of slowed reaction times in autism), and that learning may benefit from extended exposure and explicit cues. In contrast, neuroimaging findings reveal substantial variability in the neural mechanisms implicated in these tasks, with evidence suggesting compensatory cognitive processing in some autistic samples. Individual differences in language, cognitive abilities, and autism-related traits strongly influence statistical learning outcomes. Significant gaps remain, particularly in the inclusion of minimally verbal individuals and those with intellectual disabilities. Methodological heterogeneity, skewed gender and sociodemographic sample characteristics, and inconsistent neural findings highlight the need for more standardized approaches in future research. Understanding the mechanisms of statistical learning in autism has critical implications for language and cognitive interventions, emphasizing the importance of individualized support strategies. En ligne : https://doi.org/10.1186/s13229-025-00697-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Priorities for change for autistic people across Europe / Siti Nurnadhirah BINTE MOHD IKHSAN in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Priorities for change for autistic people across Europe Type de document : texte imprimé Auteurs : Siti Nurnadhirah BINTE MOHD IKHSAN, Auteur ; Rosemary HOLT, Auteur ; Amber RUIGROK, Auteur ; Joyce MAN, Auteur ; Tracey PARSONS, Auteur ; Kathryn GIBBS, Auteur ; Edward BULLOCK, Auteur ; Aurélie BARANGER, Auteur ; Carrie ALLISON, Auteur ; Mary DOHERTY, Auteur ; Anjuli GHOSH, Auteur ; Jerneja TERČON, Auteur ; Katrien VAN DEN BOSCH, Auteur ; Simon BARON-COHEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Despite rising rates of autism prevalence, there remains a pressing need to enhance the quality of life for autistic people in Europe and around the world. En ligne : https://doi.org/10.1186/s13229-026-00706-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Priorities for change for autistic people across Europe [texte imprimé] / Siti Nurnadhirah BINTE MOHD IKHSAN, Auteur ; Rosemary HOLT, Auteur ; Amber RUIGROK, Auteur ; Joyce MAN, Auteur ; Tracey PARSONS, Auteur ; Kathryn GIBBS, Auteur ; Edward BULLOCK, Auteur ; Aurélie BARANGER, Auteur ; Carrie ALLISON, Auteur ; Mary DOHERTY, Auteur ; Anjuli GHOSH, Auteur ; Jerneja TERČON, Auteur ; Katrien VAN DEN BOSCH, Auteur ; Simon BARON-COHEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Despite rising rates of autism prevalence, there remains a pressing need to enhance the quality of life for autistic people in Europe and around the world. En ligne : https://doi.org/10.1186/s13229-026-00706-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Early developmental trajectory phenotypes for risk stratification of autism spectrum disorder in very preterm infants: a machine learning approach / Li-Wen CHEN in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Early developmental trajectory phenotypes for risk stratification of autism spectrum disorder in very preterm infants: a machine learning approach Type de document : texte imprimé Auteurs : Li-Wen CHEN, Auteur ; Yi-Tien LI, Auteur ; Chi-Hsiang CHU, Auteur ; Chin-Chin WU, Auteur ; Ching-Lin CHU, Auteur ; Lan-Wan WANG, Auteur ; Han-Yi TSAI, Auteur ; Chung-Hsin CHIANG, Auteur ; Chao-Ching HUANG, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Very preterm infants are at elevated risk for autism spectrum disorder (ASD), though early identification is challenging due to overlapping neurodevelopmental disorders. While the Bayley Scales of Infant and Toddler Development (BSID) is widely used for follow-up, it remains unclear whether domain-specific developmental trajectories—such as cognition, receptive and expressive communication, and fine and gross motor function assessed by the BSID, Third Edition (BSID-III)—can support the development of a prediction model for ASD risk by preschool age in this population. En ligne : https://doi.org/10.1186/s13229-025-00692-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Early developmental trajectory phenotypes for risk stratification of autism spectrum disorder in very preterm infants: a machine learning approach [texte imprimé] / Li-Wen CHEN, Auteur ; Yi-Tien LI, Auteur ; Chi-Hsiang CHU, Auteur ; Chin-Chin WU, Auteur ; Ching-Lin CHU, Auteur ; Lan-Wan WANG, Auteur ; Han-Yi TSAI, Auteur ; Chung-Hsin CHIANG, Auteur ; Chao-Ching HUANG, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Very preterm infants are at elevated risk for autism spectrum disorder (ASD), though early identification is challenging due to overlapping neurodevelopmental disorders. While the Bayley Scales of Infant and Toddler Development (BSID) is widely used for follow-up, it remains unclear whether domain-specific developmental trajectories—such as cognition, receptive and expressive communication, and fine and gross motor function assessed by the BSID, Third Edition (BSID-III)—can support the development of a prediction model for ASD risk by preschool age in this population. En ligne : https://doi.org/10.1186/s13229-025-00692-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills / Yanru CHEN in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills Type de document : texte imprimé Auteurs : Yanru CHEN, Auteur ; Meagan TSOU, Auteur ; Charles A. NELSON, Auteur ; Helen TAGER-FLUSBERG, Auteur ; Carol L. WILKINSON, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The neural mechanisms underpinning language development in autism spectrum disorder remain unclear. While prior studies have identified associations between resting-state EEG absolute power and language skills in autistic children, none have examined the distinct roles of aperiodic and periodic activity decomposed from the absolute power spectra on language development in autistic children. En ligne : https://doi.org/10.1186/s13229-025-00700-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills [texte imprimé] / Yanru CHEN, Auteur ; Meagan TSOU, Auteur ; Charles A. NELSON, Auteur ; Helen TAGER-FLUSBERG, Auteur ; Carol L. WILKINSON, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : The neural mechanisms underpinning language development in autism spectrum disorder remain unclear. While prior studies have identified associations between resting-state EEG absolute power and language skills in autistic children, none have examined the distinct roles of aperiodic and periodic activity decomposed from the absolute power spectra on language development in autistic children. En ligne : https://doi.org/10.1186/s13229-025-00700-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Cholecystokinin upregulation in mPFC leads to social defeat-induced anxiety susceptibility in neuroligin 3 R451C knockin mice / Yuzhen FU in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Cholecystokinin upregulation in mPFC leads to social defeat-induced anxiety susceptibility in neuroligin 3 R451C knockin mice Type de document : texte imprimé Auteurs : Yuzhen FU, Auteur ; Yuke XU, Auteur ; Huiyi LI, Auteur ; Kaipeng JIANG, Auteur ; Qun YANG, Auteur ; Zhiyuan LI, Auteur ; Jialin CHEN, Auteur ; Yingwei JU, Auteur ; Keying XU, Auteur ; Hangtian YAN, Auteur ; Jiali GE, Auteur ; Sien LI, Auteur ; Kexian YAN, Auteur ; Wenjie DOU, Auteur ; Xintai WANG, Auteur ; Jianhong LUO, Auteur ; Baoming LI, Auteur ; Wei CAO, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Anxiety is a prevalent and clinically debilitating comorbidity in autism spectrum disorder (ASD), yet its underlying neurobiological mechanisms remain incompletely elucidated. This study aimed to investigate the role of dysregulated cholecystokinin (CCK) signaling within the medial prefrontal cortex (mPFC) in mediating stress-induced anxiety susceptibility in ASD. En ligne : https://doi.org/10.1186/s13229-026-00708-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Cholecystokinin upregulation in mPFC leads to social defeat-induced anxiety susceptibility in neuroligin 3 R451C knockin mice [texte imprimé] / Yuzhen FU, Auteur ; Yuke XU, Auteur ; Huiyi LI, Auteur ; Kaipeng JIANG, Auteur ; Qun YANG, Auteur ; Zhiyuan LI, Auteur ; Jialin CHEN, Auteur ; Yingwei JU, Auteur ; Keying XU, Auteur ; Hangtian YAN, Auteur ; Jiali GE, Auteur ; Sien LI, Auteur ; Kexian YAN, Auteur ; Wenjie DOU, Auteur ; Xintai WANG, Auteur ; Jianhong LUO, Auteur ; Baoming LI, Auteur ; Wei CAO, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Anxiety is a prevalent and clinically debilitating comorbidity in autism spectrum disorder (ASD), yet its underlying neurobiological mechanisms remain incompletely elucidated. This study aimed to investigate the role of dysregulated cholecystokinin (CCK) signaling within the medial prefrontal cortex (mPFC) in mediating stress-induced anxiety susceptibility in ASD. En ligne : https://doi.org/10.1186/s13229-026-00708-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Large-scale neural network compensation associated with camouflaging in trait autism and its potential mental health costs / Han GUO in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Large-scale neural network compensation associated with camouflaging in trait autism and its potential mental health costs Type de document : texte imprimé Auteurs : Han GUO, Auteur ; Xiaobing CHEN, Auteur ; Aihua ZHOU, Auteur ; Juan KOU, Auteur ; Yi LEI, Auteur ; Keith M. KENDRICK, Auteur ; Lei XU, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Social camouflaging refers to strategies to hide or compensate for social difficulties, often at significant mental health costs, and is particularly prevalent in autism. The large-scale neural network associated with this adaptation remains poorly understood. This study aimed to identify these neural network patterns and their link to potential mental health issues. En ligne : https://doi.org/10.1186/s13229-026-00710-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Large-scale neural network compensation associated with camouflaging in trait autism and its potential mental health costs [texte imprimé] / Han GUO, Auteur ; Xiaobing CHEN, Auteur ; Aihua ZHOU, Auteur ; Juan KOU, Auteur ; Yi LEI, Auteur ; Keith M. KENDRICK, Auteur ; Lei XU, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Social camouflaging refers to strategies to hide or compensate for social difficulties, often at significant mental health costs, and is particularly prevalent in autism. The large-scale neural network associated with this adaptation remains poorly understood. This study aimed to identify these neural network patterns and their link to potential mental health issues. En ligne : https://doi.org/10.1186/s13229-026-00710-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Risk of hospitalization and death among autistic young people in England during the Covid-19 pandemic / Brigid Saoirse KENNEDY in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Risk of hospitalization and death among autistic young people in England during the Covid-19 pandemic Type de document : texte imprimé Auteurs : Brigid Saoirse KENNEDY, Auteur ; Elizabeth WEIR, Auteur ; Matthew C. FYSH, Auteur ; Alex TSOMPANIDIS, Auteur ; Rupert A. PAYNE, Auteur ; Carrie ALLISON, Auteur ; Fiona E. MATTHEWS, Auteur ; Simon BARON-COHEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autistic people experience increased health vulnerability and risk of premature mortality; the Covid-19 pandemic posed a serious health risk globally. The present study estimated risks of (i) first hospitalization, (ii) first hospitalization with a positive Covid-19 test, (iii) all-cause death, and (iv) Covid-19 associated death from 1 January 2020–31 March 2021 among autistic people compared to matched peers in England. En ligne : https://doi.org/10.1186/s13229-025-00698-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Risk of hospitalization and death among autistic young people in England during the Covid-19 pandemic [texte imprimé] / Brigid Saoirse KENNEDY, Auteur ; Elizabeth WEIR, Auteur ; Matthew C. FYSH, Auteur ; Alex TSOMPANIDIS, Auteur ; Rupert A. PAYNE, Auteur ; Carrie ALLISON, Auteur ; Fiona E. MATTHEWS, Auteur ; Simon BARON-COHEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Autistic people experience increased health vulnerability and risk of premature mortality; the Covid-19 pandemic posed a serious health risk globally. The present study estimated risks of (i) first hospitalization, (ii) first hospitalization with a positive Covid-19 test, (iii) all-cause death, and (iv) Covid-19 associated death from 1 January 2020–31 March 2021 among autistic people compared to matched peers in England. En ligne : https://doi.org/10.1186/s13229-025-00698-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Reduced task adaptation and contextual awareness in autistic adults during facial emotion recognition: evidence from mixed-effects modeling and automated facial analysis / Simon KIRSCH in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Reduced task adaptation and contextual awareness in autistic adults during facial emotion recognition: evidence from mixed-effects modeling and automated facial analysis Type de document : texte imprimé Auteurs : Simon KIRSCH, Auteur ; Hanna DRIMALLA, Auteur ; William SAAKYAN, Auteur ; Bastian Elmar Alexander SAJONZ, Auteur ; Justus GRITZMANN, Auteur ; Simon MAIER, Auteur ; Thomas FANGMEIER, Auteur ; Muyu LIN, Auteur ; Simón GUENDELMAN, Auteur ; Christian KAUFMANN, Auteur ; Isabel DZIOBEK, Auteur ; Ludger Tebartz VAN ELST, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Despite significant advances in understanding facial emotion recognition (FER) in autistic adults in recent decades, the mechanisms underlying FER difficulties in individuals with autism remain unclear, with inconsistent findings across studies. A key limitation may be the reliance on aggregate accuracy scores, which overlook item- and subject-level variability. Here, we investigated the effects of task adaptation and stimulus properties on FER performance in autistic and non-autistic adults using mixed-effects modelling. En ligne : https://doi.org/10.1186/s13229-026-00711-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Reduced task adaptation and contextual awareness in autistic adults during facial emotion recognition: evidence from mixed-effects modeling and automated facial analysis [texte imprimé] / Simon KIRSCH, Auteur ; Hanna DRIMALLA, Auteur ; William SAAKYAN, Auteur ; Bastian Elmar Alexander SAJONZ, Auteur ; Justus GRITZMANN, Auteur ; Simon MAIER, Auteur ; Thomas FANGMEIER, Auteur ; Muyu LIN, Auteur ; Simón GUENDELMAN, Auteur ; Christian KAUFMANN, Auteur ; Isabel DZIOBEK, Auteur ; Ludger Tebartz VAN ELST, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Despite significant advances in understanding facial emotion recognition (FER) in autistic adults in recent decades, the mechanisms underlying FER difficulties in individuals with autism remain unclear, with inconsistent findings across studies. A key limitation may be the reliance on aggregate accuracy scores, which overlook item- and subject-level variability. Here, we investigated the effects of task adaptation and stimulus properties on FER performance in autistic and non-autistic adults using mixed-effects modelling. En ligne : https://doi.org/10.1186/s13229-026-00711-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights / Yonika A. LARASATI in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights Type de document : texte imprimé Auteurs : Yonika A. LARASATI, Auteur ; Moritz THIEL, Auteur ; Ainara SALAZAR-VILLACORTA, Auteur ; Alexey KOVAL, Auteur ; Manju A. KURIAN, Auteur ; Anne KOY, Auteur ; Angela T. MORGAN, Auteur ; Vladimir L. KATANAEV, Auteur ; Gonzalo P. SOLIS, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The etiology of severe childhood speech disorders, including childhood apraxia of speech (CAS), is currently understood as genetically heterogeneous, with over 40 distinct monogenic conditions reported to date. Among them, the p.Thr327Arg variant in GNAO1, encoding the major neuronal G protein Gαo, was identified in one patient diagnosed with CAS and intellectual disability (ID). This presentation is exceptionally rare, as GNAO1 mutations are commonly associated with epilepsy, hyperkinetic movement disorders, and global developmental delay, often accompanied by ID. En ligne : https://doi.org/10.1186/s13229-025-00696-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights [texte imprimé] / Yonika A. LARASATI, Auteur ; Moritz THIEL, Auteur ; Ainara SALAZAR-VILLACORTA, Auteur ; Alexey KOVAL, Auteur ; Manju A. KURIAN, Auteur ; Anne KOY, Auteur ; Angela T. MORGAN, Auteur ; Vladimir L. KATANAEV, Auteur ; Gonzalo P. SOLIS, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : The etiology of severe childhood speech disorders, including childhood apraxia of speech (CAS), is currently understood as genetically heterogeneous, with over 40 distinct monogenic conditions reported to date. Among them, the p.Thr327Arg variant in GNAO1, encoding the major neuronal G protein Gαo, was identified in one patient diagnosed with CAS and intellectual disability (ID). This presentation is exceptionally rare, as GNAO1 mutations are commonly associated with epilepsy, hyperkinetic movement disorders, and global developmental delay, often accompanied by ID. En ligne : https://doi.org/10.1186/s13229-025-00696-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity / Maj LIIWAND in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity Type de document : texte imprimé Auteurs : Maj LIIWAND, Auteur ; Joni HAIKONEN, Auteur ; Bojana KOKINOVIC, Auteur ; Svetlana M. MOLCHANOVA, Auteur ; Teemu AITTA-AHO, Auteur ; Sari E. LAURI, Auteur ; Maria RYAZANTSEVA, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The MECP2 gene is located on the X chromosome and encodes a methyl-CpG-binding protein 2 involved in transcriptional regulation. Loss-of-function mutations in the MECP2 gene lead to Rett syndrome, a severe neurodevelopmental disorder. The clinical picture of Rett syndrome includes, among other symptoms, social deficits, learning impairment, and heightened anxiety. The amygdala is a brain region responsible for emotional learning and is involved in the regulation of social behaviour as well as fear and anxiety. Parvalbumin interneurons tightly control the excitability, oscillation and synchronisation of the amygdala network, which are relevant to its functions. Here, we investigated the effects of Mecp2 gene ablation in parvalbumin interneurons on the microcircuit and functional connectivity of the mouse amygdala. En ligne : https://doi.org/10.1186/s13229-025-00699-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity [texte imprimé] / Maj LIIWAND, Auteur ; Joni HAIKONEN, Auteur ; Bojana KOKINOVIC, Auteur ; Svetlana M. MOLCHANOVA, Auteur ; Teemu AITTA-AHO, Auteur ; Sari E. LAURI, Auteur ; Maria RYAZANTSEVA, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : The MECP2 gene is located on the X chromosome and encodes a methyl-CpG-binding protein 2 involved in transcriptional regulation. Loss-of-function mutations in the MECP2 gene lead to Rett syndrome, a severe neurodevelopmental disorder. The clinical picture of Rett syndrome includes, among other symptoms, social deficits, learning impairment, and heightened anxiety. The amygdala is a brain region responsible for emotional learning and is involved in the regulation of social behaviour as well as fear and anxiety. Parvalbumin interneurons tightly control the excitability, oscillation and synchronisation of the amygdala network, which are relevant to its functions. Here, we investigated the effects of Mecp2 gene ablation in parvalbumin interneurons on the microcircuit and functional connectivity of the mouse amygdala. En ligne : https://doi.org/10.1186/s13229-025-00699-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Reduced inter-subject functional connectivity during movies in autism: replicability across cross-national fMRI datasets / Feng LIN in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Reduced inter-subject functional connectivity during movies in autism: replicability across cross-national fMRI datasets Type de document : texte imprimé Auteurs : Feng LIN, Auteur ; Laura ALBANTAKIS, Auteur ; Tuomo NOPPARI, Auteur ; Severi SANTAVIRTA, Auteur ; Marie-Luise BRANDI, Auteur ; Lihua SUN, Auteur ; Lasse LUKKARINEN, Auteur ; Pekka TANI, Auteur ; Juha SALMI, Auteur ; Lauri NUMMENMAA, Auteur ; Juergen DUKART, Auteur ; Leonhard SCHILBACH, Auteur ; Juha M. LAHNAKOSKI, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by repetitive behaviors and difficulties in social communication and interaction. Previous research has shown that these symptoms are linked to idiosyncratic behavioral and brain activity patterns while viewing natural social events in movies. This study aimed to investigate the replicability of brain activity idiosyncrasy in adult autistic individuals by comparing their inter-subject functional connectivity (ISFC) with that of neurotypical individuals. En ligne : https://doi.org/10.1186/s13229-026-00707-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Reduced inter-subject functional connectivity during movies in autism: replicability across cross-national fMRI datasets [texte imprimé] / Feng LIN, Auteur ; Laura ALBANTAKIS, Auteur ; Tuomo NOPPARI, Auteur ; Severi SANTAVIRTA, Auteur ; Marie-Luise BRANDI, Auteur ; Lihua SUN, Auteur ; Lasse LUKKARINEN, Auteur ; Pekka TANI, Auteur ; Juha SALMI, Auteur ; Lauri NUMMENMAA, Auteur ; Juergen DUKART, Auteur ; Leonhard SCHILBACH, Auteur ; Juha M. LAHNAKOSKI, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by repetitive behaviors and difficulties in social communication and interaction. Previous research has shown that these symptoms are linked to idiosyncratic behavioral and brain activity patterns while viewing natural social events in movies. This study aimed to investigate the replicability of brain activity idiosyncrasy in adult autistic individuals by comparing their inter-subject functional connectivity (ISFC) with that of neurotypical individuals. En ligne : https://doi.org/10.1186/s13229-026-00707-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Cerebellar purkinje cell dysfunction contributes to gait impairments in Shank3-mutant mice / Haiying LIU in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Cerebellar purkinje cell dysfunction contributes to gait impairments in Shank3-mutant mice Type de document : texte imprimé Auteurs : Haiying LIU, Auteur ; Xin HUANG, Auteur ; Guaiguai MA, Auteur ; Xin ZHAO, Auteur ; Ruixin XIA, Auteur ; Zimeng LI, Auteur ; Baolin GUO, Auteur ; Shengxi WU, Auteur ; Wenting WANG, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Complex motor dysfunction is a common comorbidity of autism spectrum disorder (ASD) and may be attributed to the perturbation of cerebellar function. Purkinje cells (PCs), which serve as the primary output neurons of the cerebellum, are integral to various aspects of cerebellar motor function, such as gait control. However, the specific contribution of PCs to ASD has not been fully characterized. En ligne : https://doi.org/10.1186/s13229-026-00704-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Cerebellar purkinje cell dysfunction contributes to gait impairments in Shank3-mutant mice [texte imprimé] / Haiying LIU, Auteur ; Xin HUANG, Auteur ; Guaiguai MA, Auteur ; Xin ZHAO, Auteur ; Ruixin XIA, Auteur ; Zimeng LI, Auteur ; Baolin GUO, Auteur ; Shengxi WU, Auteur ; Wenting WANG, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Complex motor dysfunction is a common comorbidity of autism spectrum disorder (ASD) and may be attributed to the perturbation of cerebellar function. Purkinje cells (PCs), which serve as the primary output neurons of the cerebellum, are integral to various aspects of cerebellar motor function, such as gait control. However, the specific contribution of PCs to ASD has not been fully characterized. En ligne : https://doi.org/10.1186/s13229-026-00704-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Serum and cerebral folate are normal in Down Syndrome Regression Disorder / Jonathan D. SANTORO in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Serum and cerebral folate are normal in Down Syndrome Regression Disorder Type de document : texte imprimé Auteurs : Jonathan D. SANTORO, Auteur ; Mackenzie SILVERMAN, Auteur ; Lilia KAZEROONI, Auteur ; Samuel T. OTEY, Auteur ; Maeve C. LUCAS, Auteur ; Mariam M. YOUSUF, Auteur ; Mellad M. KOSHNOOD, Auteur ; Noemi A. SPINAZZI, Auteur ; Eileen A. QUINN, Auteur ; Catherine FRANKLIN, Auteur ; Taryn R. LIU, Auteur ; Shafali S. JESTE, Auteur ; Michael S. RAFII, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Neuropsychiatric regression in individuals with Down syndrome (DS), termed Down Syndrome Regression Disorder (DSRD), has been reported to occur in the 2nd and 3rd decade of life. Symptoms of DSRD include acute onset of encephalopathy, catatonia, hallucinations, obsessive compulsive tendencies and “new autistic” features. To determine whether abnormalities in folate transport and/or metabolism may play a role in the pathogenesis of this disorder, studies explored whether abnormalities in serum, red blood cell (RBC), or cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF) are associated with DSRD. En ligne : https://doi.org/10.1186/s13229-026-00703-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Serum and cerebral folate are normal in Down Syndrome Regression Disorder [texte imprimé] / Jonathan D. SANTORO, Auteur ; Mackenzie SILVERMAN, Auteur ; Lilia KAZEROONI, Auteur ; Samuel T. OTEY, Auteur ; Maeve C. LUCAS, Auteur ; Mariam M. YOUSUF, Auteur ; Mellad M. KOSHNOOD, Auteur ; Noemi A. SPINAZZI, Auteur ; Eileen A. QUINN, Auteur ; Catherine FRANKLIN, Auteur ; Taryn R. LIU, Auteur ; Shafali S. JESTE, Auteur ; Michael S. RAFII, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Neuropsychiatric regression in individuals with Down syndrome (DS), termed Down Syndrome Regression Disorder (DSRD), has been reported to occur in the 2nd and 3rd decade of life. Symptoms of DSRD include acute onset of encephalopathy, catatonia, hallucinations, obsessive compulsive tendencies and “new autistic” features. To determine whether abnormalities in folate transport and/or metabolism may play a role in the pathogenesis of this disorder, studies explored whether abnormalities in serum, red blood cell (RBC), or cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF) are associated with DSRD. En ligne : https://doi.org/10.1186/s13229-026-00703-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Sub-groups of spoken language and broader communication skills in a large heterogenous cohort of minimally verbal school-age children: evidence of discrepant profiles / Jo SAUL in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Sub-groups of spoken language and broader communication skills in a large heterogenous cohort of minimally verbal school-age children: evidence of discrepant profiles Type de document : texte imprimé Auteurs : Jo SAUL, Auteur ; Mollie COOKE, Auteur ; Supipi MUNAWEERA, Auteur ; Danielle MATTHEWS, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Communication and language profiles in neurodevelopmental conditions are characterised by enormous phenotypic heterogeneity. We sought to identify subgroups of Minimally Verbal (MV) children in a school-age transdiagnostic sample. We hypothesised that a cluster with a discrepant profile (strong receptive but low speech production and expressive spoken language skills) would emerge. En ligne : https://doi.org/10.1186/s13229-026-00701-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Sub-groups of spoken language and broader communication skills in a large heterogenous cohort of minimally verbal school-age children: evidence of discrepant profiles [texte imprimé] / Jo SAUL, Auteur ; Mollie COOKE, Auteur ; Supipi MUNAWEERA, Auteur ; Danielle MATTHEWS, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Communication and language profiles in neurodevelopmental conditions are characterised by enormous phenotypic heterogeneity. We sought to identify subgroups of Minimally Verbal (MV) children in a school-age transdiagnostic sample. We hypothesised that a cluster with a discrepant profile (strong receptive but low speech production and expressive spoken language skills) would emerge. En ligne : https://doi.org/10.1186/s13229-026-00701-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Association of glymphatic dysfunction, free water, white matter integrity and long-term memory performance in aging autistic adults / Yuanchao ZHANG in Molecular Autism, 17 (2026)  

Public ISBD [article]  inMolecular Autism > 17 (2026) Titre : Association of glymphatic dysfunction, free water, white matter integrity and long-term memory performance in aging autistic adults Type de document : texte imprimé Auteurs : Yuanchao ZHANG, Auteur ; Edward OFORI, Auteur ; Kewei CHEN, Auteur ; Samantha A. HARKER, Auteur ; Manuela VELEZ, Auteur ; Stephen GALLEGOS, Auteur ; Katie GRABEEL, Auteur ; Faith JOHNSON, Auteur ; Leslie BAXTER, Auteur ; Bryan WOODRUFF, Auteur ; B. Blair BRADEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autistic adults are at elevated risk of accelerated cognitive aging and Alzheimer’s disease and related dementias (ADRD), yet the underlying neurobiological mechanisms remain poorly understood. Dysfunction in the glymphatic system—a brain-wide network responsible for clearing waste via interstitial fluid flow—may contribute to this vulnerability by promoting extracellular free water (FW) accumulation and white matter (WM) degeneration. En ligne : https://doi.org/10.1186/s13229-026-00705-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Association of glymphatic dysfunction, free water, white matter integrity and long-term memory performance in aging autistic adults [texte imprimé] / Yuanchao ZHANG, Auteur ; Edward OFORI, Auteur ; Kewei CHEN, Auteur ; Samantha A. HARKER, Auteur ; Manuela VELEZ, Auteur ; Stephen GALLEGOS, Auteur ; Katie GRABEEL, Auteur ; Faith JOHNSON, Auteur ; Leslie BAXTER, Auteur ; Bryan WOODRUFF, Auteur ; B. Blair BRADEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 17 (2026) Index. décimale : PER Périodiques Résumé : Autistic adults are at elevated risk of accelerated cognitive aging and Alzheimer’s disease and related dementias (ADRD), yet the underlying neurobiological mechanisms remain poorly understood. Dysfunction in the glymphatic system—a brain-wide network responsible for clearing waste via interstitial fluid flow—may contribute to this vulnerability by promoting extracellular free water (FW) accumulation and white matter (WM) degeneration. En ligne : https://doi.org/10.1186/s13229-026-00705-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584