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Social brain activation during mentalizing in a large autism cohort: the Longitudinal European Autism Project / Carolin MOESSNANG in Molecular Autism, 11 (2020)
[article]
Titre : Social brain activation during mentalizing in a large autism cohort: the Longitudinal European Autism Project Type de document : Texte imprimé et/ou numérique Auteurs : Carolin MOESSNANG, Auteur ; Sarah BAUMEISTER, Auteur ; Julian TILLMANN, Auteur ; David GOYARD, Auteur ; Tony CHARMAN, Auteur ; Sara AMBROSINO, Auteur ; Simon BARON-COHEN, Auteur ; Christian F. BECKMANN, Auteur ; Sven BÖLTE, Auteur ; Carsten BOURS, Auteur ; Daisy CRAWLEY, Auteur ; Flavio DELL'ACQUA, Auteur ; Sarah DURSTON, Auteur ; Christine ECKER, Auteur ; Vincent FROUIN, Auteur ; Hannah HAYWARD, Auteur ; Rosemary HOLT, Auteur ; Mark H. JOHNSON, Auteur ; Emily JONES, Auteur ; Meng-Chuan LAI, Auteur ; Michael V. LOMBARDO, Auteur ; Luke MASON, Auteur ; Marianne OLDENHINKEL, Auteur ; Antonio PERSICO, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Will SPOOREN, Auteur ; Eva LOTH, Auteur ; Declan G. M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Tobias BANASCHEWSKI, Auteur ; Daniel BRANDEIS, Auteur ; Heike TOST, Auteur ; Andreas MEYER-LINDENBERG, Auteur Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : Animated shapes Autism Autism spectrum disorder Development Mentalizing Multi-site Social brain Theory of mind fMRI Science, Atheneum Partners, Blueprint Partnership, Boehringer Ingelheim, Daimler und Benz Stiftung, Elsevier, F. Hoffmann-La Roche, ICARE Schizophrenia, K. G. Jebsen Foundation, L.E.K Consulting, Lundbeck International Foundation (LINF), R. Adamczak, Roche Pharma, Science Foundation, Sumitomo Dainippon Pharma, Synapsis Foundation–Alzheimer Research Switzerland, and System Analytics, and has received lectures fees including travel fees from Boehringer Ingelheim, Fama Public Relations, Institut d’investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Janssen-Cilag, Klinikum Christophsbad, Göppingen, Lilly Deutschland, Luzerner Psychiatrie, LVR Klinikum Düsseldorf, LWL Psychiatrie Verbund Westfalen-Lippe, Otsuka Pharmaceuticals, Reunions i Ciencia S. L., Spanish Society of Psychiatry, Südwestrundfunk Fernsehen, Stern TV, and Vitos Klinikum Kurhessen. WM has received lecture or travel fees from Pfizer, Grünenthal, University of Zürich, International Association for the Study on Pain (IASP), and European Federation of IASP Chapters (EFIC). SB discloses that he has in the last 5?years acted as an author, consultant or lecturer for Shire, Medice, Roche, Eli Lilly, Prima Psychiatry, GLGroup, System Analytic, Ability Partner, Kompetento, Expo Medica, Clarion Healthcare, and Prophase. He receives royalties for textbooks and diagnostic tools from Huber/Hogrefe, Kohlhammer, and UTB. The other authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition with key deficits in social functioning. It is widely assumed that the biological underpinnings of social impairment are neurofunctional alterations in the "social brain," a neural circuitry involved in inferring the mental state of a social partner. However, previous evidence comes from small-scale studies and findings have been mixed. We therefore carried out the to-date largest study on neural correlates of mentalizing in ASD. METHODS: As part of the Longitudinal European Autism Project, we performed functional magnetic resonance imaging at six European sites in a large, well-powered, and deeply phenotyped sample of individuals with ASD (N = 205) and typically developing (TD) individuals (N = 189) aged 6 to 30?years. We presented an animated shapes task to assess and comprehensively characterize social brain activation during mentalizing. We tested for effects of age, diagnosis, and their association with symptom measures, including a continuous measure of autistic traits. RESULTS: We observed robust effects of task. Within the ASD sample, autistic traits were moderately associated with functional activation in one of the key regions of the social brain, the dorsomedial prefrontal cortex. However, there were no significant effects of diagnosis on task performance and no effects of age and diagnosis on social brain responses. Besides a lack of mean group differences, our data provide no evidence for meaningful differences in the distribution of brain response measures. Extensive control analyses suggest that the lack of case-control differences was not due to a variety of potential confounders. CONCLUSIONS: Contrary to prior reports, this large-scale study does not support the assumption that altered social brain activation during mentalizing forms a common neural marker of ASD, at least with the paradigm we employed. Yet, autistic individuals show socio-behavioral deficits. Our work therefore highlights the need to interrogate social brain function with other brain measures, such as connectivity and network-based approaches, using other paradigms, or applying complementary analysis approaches to assess individual differences in this heterogeneous condition. En ligne : http://dx.doi.org/10.1186/s13229-020-0317-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 17 p.[article] Social brain activation during mentalizing in a large autism cohort: the Longitudinal European Autism Project [Texte imprimé et/ou numérique] / Carolin MOESSNANG, Auteur ; Sarah BAUMEISTER, Auteur ; Julian TILLMANN, Auteur ; David GOYARD, Auteur ; Tony CHARMAN, Auteur ; Sara AMBROSINO, Auteur ; Simon BARON-COHEN, Auteur ; Christian F. BECKMANN, Auteur ; Sven BÖLTE, Auteur ; Carsten BOURS, Auteur ; Daisy CRAWLEY, Auteur ; Flavio DELL'ACQUA, Auteur ; Sarah DURSTON, Auteur ; Christine ECKER, Auteur ; Vincent FROUIN, Auteur ; Hannah HAYWARD, Auteur ; Rosemary HOLT, Auteur ; Mark H. JOHNSON, Auteur ; Emily JONES, Auteur ; Meng-Chuan LAI, Auteur ; Michael V. LOMBARDO, Auteur ; Luke MASON, Auteur ; Marianne OLDENHINKEL, Auteur ; Antonio PERSICO, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Will SPOOREN, Auteur ; Eva LOTH, Auteur ; Declan G. M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Tobias BANASCHEWSKI, Auteur ; Daniel BRANDEIS, Auteur ; Heike TOST, Auteur ; Andreas MEYER-LINDENBERG, Auteur . - 17 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 17 p.
Mots-clés : Animated shapes Autism Autism spectrum disorder Development Mentalizing Multi-site Social brain Theory of mind fMRI Science, Atheneum Partners, Blueprint Partnership, Boehringer Ingelheim, Daimler und Benz Stiftung, Elsevier, F. Hoffmann-La Roche, ICARE Schizophrenia, K. G. Jebsen Foundation, L.E.K Consulting, Lundbeck International Foundation (LINF), R. Adamczak, Roche Pharma, Science Foundation, Sumitomo Dainippon Pharma, Synapsis Foundation–Alzheimer Research Switzerland, and System Analytics, and has received lectures fees including travel fees from Boehringer Ingelheim, Fama Public Relations, Institut d’investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Janssen-Cilag, Klinikum Christophsbad, Göppingen, Lilly Deutschland, Luzerner Psychiatrie, LVR Klinikum Düsseldorf, LWL Psychiatrie Verbund Westfalen-Lippe, Otsuka Pharmaceuticals, Reunions i Ciencia S. L., Spanish Society of Psychiatry, Südwestrundfunk Fernsehen, Stern TV, and Vitos Klinikum Kurhessen. WM has received lecture or travel fees from Pfizer, Grünenthal, University of Zürich, International Association for the Study on Pain (IASP), and European Federation of IASP Chapters (EFIC). SB discloses that he has in the last 5?years acted as an author, consultant or lecturer for Shire, Medice, Roche, Eli Lilly, Prima Psychiatry, GLGroup, System Analytic, Ability Partner, Kompetento, Expo Medica, Clarion Healthcare, and Prophase. He receives royalties for textbooks and diagnostic tools from Huber/Hogrefe, Kohlhammer, and UTB. The other authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition with key deficits in social functioning. It is widely assumed that the biological underpinnings of social impairment are neurofunctional alterations in the "social brain," a neural circuitry involved in inferring the mental state of a social partner. However, previous evidence comes from small-scale studies and findings have been mixed. We therefore carried out the to-date largest study on neural correlates of mentalizing in ASD. METHODS: As part of the Longitudinal European Autism Project, we performed functional magnetic resonance imaging at six European sites in a large, well-powered, and deeply phenotyped sample of individuals with ASD (N = 205) and typically developing (TD) individuals (N = 189) aged 6 to 30?years. We presented an animated shapes task to assess and comprehensively characterize social brain activation during mentalizing. We tested for effects of age, diagnosis, and their association with symptom measures, including a continuous measure of autistic traits. RESULTS: We observed robust effects of task. Within the ASD sample, autistic traits were moderately associated with functional activation in one of the key regions of the social brain, the dorsomedial prefrontal cortex. However, there were no significant effects of diagnosis on task performance and no effects of age and diagnosis on social brain responses. Besides a lack of mean group differences, our data provide no evidence for meaningful differences in the distribution of brain response measures. Extensive control analyses suggest that the lack of case-control differences was not due to a variety of potential confounders. CONCLUSIONS: Contrary to prior reports, this large-scale study does not support the assumption that altered social brain activation during mentalizing forms a common neural marker of ASD, at least with the paradigm we employed. Yet, autistic individuals show socio-behavioral deficits. Our work therefore highlights the need to interrogate social brain function with other brain measures, such as connectivity and network-based approaches, using other paradigms, or applying complementary analysis approaches to assess individual differences in this heterogeneous condition. En ligne : http://dx.doi.org/10.1186/s13229-020-0317-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 Social brain circuitry and social cognition in infants born preterm / A. FENOGLIO in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Social brain circuitry and social cognition in infants born preterm Type de document : Texte imprimé et/ou numérique Auteurs : A. FENOGLIO, Auteur ; Michael K. GEORGIEFF, Auteur ; J. T. ELISON, Auteur Article en page(s) : p.27 Langues : Anglais (eng) Mots-clés : Neurodevelopment Neuroplasticity Prematurity Social brain Social cognition Index. décimale : PER Périodiques Résumé : Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains, but little work has been done to examine whether and how these circuits may be especially sensitive to prematurity. This paper contains a brief summary of some of the cognitive, psychiatric, and social outcomes associated with prematurity, followed by a description of findings from the modest body of research into social-cognitive development in infants and children born preterm. Next, findings from studies of structural and functional brain development in infants born preterm are reviewed, with an eye toward the distinctive role of the brain circuits implicated in social functioning. The goal of this review is to investigate the extent to which the putative "social brain" may have particular developmental susceptibilities to the insults associated with preterm birth, and the role of early social-cognitive development in later neurodevelopmental outcomes. Much work has been done to characterize neurobehavioral outcomes in the preterm population, but future research must incorporate both brain and behavioral measures to identify early biomarkers linked to later emerging social-cognitive clinical impairment in order to guide effective, targeted intervention. En ligne : http://dx.doi.org/10.1186/s11689-017-9206-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.27[article] Social brain circuitry and social cognition in infants born preterm [Texte imprimé et/ou numérique] / A. FENOGLIO, Auteur ; Michael K. GEORGIEFF, Auteur ; J. T. ELISON, Auteur . - p.27.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.27
Mots-clés : Neurodevelopment Neuroplasticity Prematurity Social brain Social cognition Index. décimale : PER Périodiques Résumé : Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains, but little work has been done to examine whether and how these circuits may be especially sensitive to prematurity. This paper contains a brief summary of some of the cognitive, psychiatric, and social outcomes associated with prematurity, followed by a description of findings from the modest body of research into social-cognitive development in infants and children born preterm. Next, findings from studies of structural and functional brain development in infants born preterm are reviewed, with an eye toward the distinctive role of the brain circuits implicated in social functioning. The goal of this review is to investigate the extent to which the putative "social brain" may have particular developmental susceptibilities to the insults associated with preterm birth, and the role of early social-cognitive development in later neurodevelopmental outcomes. Much work has been done to characterize neurobehavioral outcomes in the preterm population, but future research must incorporate both brain and behavioral measures to identify early biomarkers linked to later emerging social-cognitive clinical impairment in order to guide effective, targeted intervention. En ligne : http://dx.doi.org/10.1186/s11689-017-9206-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Social brain circuitry and social cognition in infants born preterm / A. FENOGLIO in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Social brain circuitry and social cognition in infants born preterm Type de document : Texte imprimé et/ou numérique Auteurs : A. FENOGLIO, Auteur ; Michael K. GEORGIEFF, Auteur ; J. T. ELISON, Auteur Article en page(s) : p.27 Langues : Anglais (eng) Mots-clés : Neurodevelopment Neuroplasticity Prematurity Social brain Social cognition Index. décimale : PER Périodiques Résumé : Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains, but little work has been done to examine whether and how these circuits may be especially sensitive to prematurity. This paper contains a brief summary of some of the cognitive, psychiatric, and social outcomes associated with prematurity, followed by a description of findings from the modest body of research into social-cognitive development in infants and children born preterm. Next, findings from studies of structural and functional brain development in infants born preterm are reviewed, with an eye toward the distinctive role of the brain circuits implicated in social functioning. The goal of this review is to investigate the extent to which the putative "social brain" may have particular developmental susceptibilities to the insults associated with preterm birth, and the role of early social-cognitive development in later neurodevelopmental outcomes. Much work has been done to characterize neurobehavioral outcomes in the preterm population, but future research must incorporate both brain and behavioral measures to identify early biomarkers linked to later emerging social-cognitive clinical impairment in order to guide effective, targeted intervention. En ligne : http://dx.doi.org/10.1186/s11689-017-9206-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.27[article] Social brain circuitry and social cognition in infants born preterm [Texte imprimé et/ou numérique] / A. FENOGLIO, Auteur ; Michael K. GEORGIEFF, Auteur ; J. T. ELISON, Auteur . - p.27.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.27
Mots-clés : Neurodevelopment Neuroplasticity Prematurity Social brain Social cognition Index. décimale : PER Périodiques Résumé : Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains, but little work has been done to examine whether and how these circuits may be especially sensitive to prematurity. This paper contains a brief summary of some of the cognitive, psychiatric, and social outcomes associated with prematurity, followed by a description of findings from the modest body of research into social-cognitive development in infants and children born preterm. Next, findings from studies of structural and functional brain development in infants born preterm are reviewed, with an eye toward the distinctive role of the brain circuits implicated in social functioning. The goal of this review is to investigate the extent to which the putative "social brain" may have particular developmental susceptibilities to the insults associated with preterm birth, and the role of early social-cognitive development in later neurodevelopmental outcomes. Much work has been done to characterize neurobehavioral outcomes in the preterm population, but future research must incorporate both brain and behavioral measures to identify early biomarkers linked to later emerging social-cognitive clinical impairment in order to guide effective, targeted intervention. En ligne : http://dx.doi.org/10.1186/s11689-017-9206-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder / Kevin A. PELPHREY in Journal of Child Psychology and Psychiatry, 52-6 (June 2011)
[article]
Titre : Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Kevin A. PELPHREY, Auteur ; Sarah SHULTZ, Auteur ; Caitlin M. HUDAC, Auteur ; Brent C. VANDER WYK, Auteur Année de publication : 2011 Article en page(s) : p.631-644 Langues : Anglais (eng) Mots-clés : Social perception social cognition autism functional neuroimaging social brain Index. décimale : PER Périodiques Résumé : The expression of autism spectrum disorder (ASD) is highly heterogeneous, owing to the complex interactions between genes, the brain, and behavior throughout development. Here we present a model of ASD that implicates an early and initial failure to develop the specialized functions of one or more of the set of neuroanatomical structures involved in social information processing (i.e., the ‘social brain’). From this early and primary disruption, abnormal brain development is canalized because the individual with an ASD must develop in a highly social world without the specialized neural systems that would ordinarily allow him or her to partake in the fabric of social life, which is woven from the thread of opportunities for social reciprocity and the tools of social engagement. This brain canalization gives rise to other characteristic behavioral deficits in ASD including deficits in communication, restricted interests, and repetitive behaviors. We propose that focused efforts to explore the brain mechanisms underlying the core, pathognomic deficits in the development of mechanisms for social engagement in ASD will greatly elucidate our understanding and treatment of this complex, devastating family of neurodevelopmental disorders. In particular, developmental studies (i.e., longitudinal studies of young children with and without ASD, as well as infants at increased risk for being identified with ASD) of the neural circuitry supporting key aspects of social information processing are likely to provide important insights into the underlying components of the full-syndrome of ASD. These studies could also contribute to the identification of developmental brain endophenotypes to facilitate genetic studies. The potential for this kind of approach is illustrated via examples of functional neuroimaging research from our own laboratory implicating the posterior superior temporal sulcus (STS) as a key player in the set of neural structures giving rise to ASD. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2010.02349.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=126
in Journal of Child Psychology and Psychiatry > 52-6 (June 2011) . - p.631-644[article] Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder [Texte imprimé et/ou numérique] / Kevin A. PELPHREY, Auteur ; Sarah SHULTZ, Auteur ; Caitlin M. HUDAC, Auteur ; Brent C. VANDER WYK, Auteur . - 2011 . - p.631-644.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 52-6 (June 2011) . - p.631-644
Mots-clés : Social perception social cognition autism functional neuroimaging social brain Index. décimale : PER Périodiques Résumé : The expression of autism spectrum disorder (ASD) is highly heterogeneous, owing to the complex interactions between genes, the brain, and behavior throughout development. Here we present a model of ASD that implicates an early and initial failure to develop the specialized functions of one or more of the set of neuroanatomical structures involved in social information processing (i.e., the ‘social brain’). From this early and primary disruption, abnormal brain development is canalized because the individual with an ASD must develop in a highly social world without the specialized neural systems that would ordinarily allow him or her to partake in the fabric of social life, which is woven from the thread of opportunities for social reciprocity and the tools of social engagement. This brain canalization gives rise to other characteristic behavioral deficits in ASD including deficits in communication, restricted interests, and repetitive behaviors. We propose that focused efforts to explore the brain mechanisms underlying the core, pathognomic deficits in the development of mechanisms for social engagement in ASD will greatly elucidate our understanding and treatment of this complex, devastating family of neurodevelopmental disorders. In particular, developmental studies (i.e., longitudinal studies of young children with and without ASD, as well as infants at increased risk for being identified with ASD) of the neural circuitry supporting key aspects of social information processing are likely to provide important insights into the underlying components of the full-syndrome of ASD. These studies could also contribute to the identification of developmental brain endophenotypes to facilitate genetic studies. The potential for this kind of approach is illustrated via examples of functional neuroimaging research from our own laboratory implicating the posterior superior temporal sulcus (STS) as a key player in the set of neural structures giving rise to ASD. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2010.02349.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=126 A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder / Nelle LAMBERT in Autism Research, 7-5 (October 2014)
[article]
Titre : A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nelle LAMBERT, Auteur ; Vanessa WERMENBOL, Auteur ; Bruno PICHON, Auteur ; Sandra T. ACOSTA, Auteur ; Jelle VAN DEN AMEELE, Auteur ; Camille PERAZZOLO, Auteur ; Diana MESSINA, Auteur ; Maria-Franca MUSUMECI, Auteur ; Barbara DESSARS, Auteur ; Anne DE LEENER, Auteur ; Marc ABRAMOWICZ, Auteur ; Catheline VILAIN, Auteur Article en page(s) : p.617-622 Langues : Anglais (eng) Mots-clés : autism spectrum disorder c-MET social brain neurodevelopment Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay. On the other allele, patients carried the C allele of the MET promoter rs1858830 polymorphism, known to decrease MET expression and previously associated with autism susceptibility. The heterozygous mutation was associated with autism in one patient, and language and social impairment in a sibling. Our observations delineate the phenotypic spectrum associated with a clearly defined, very likely complete loss of function mutation of MET. Incomplete penetrance in this family was consistent with MET as a partial susceptibility gene for ASD. Implication of MET in normal and pathological brain development opens new perspectives for understanding the pathophysiology of autism and for eventual therapeutical clues. Autism Res 2014, 7: 617–622. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1396 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241
in Autism Research > 7-5 (October 2014) . - p.617-622[article] A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Nelle LAMBERT, Auteur ; Vanessa WERMENBOL, Auteur ; Bruno PICHON, Auteur ; Sandra T. ACOSTA, Auteur ; Jelle VAN DEN AMEELE, Auteur ; Camille PERAZZOLO, Auteur ; Diana MESSINA, Auteur ; Maria-Franca MUSUMECI, Auteur ; Barbara DESSARS, Auteur ; Anne DE LEENER, Auteur ; Marc ABRAMOWICZ, Auteur ; Catheline VILAIN, Auteur . - p.617-622.
Langues : Anglais (eng)
in Autism Research > 7-5 (October 2014) . - p.617-622
Mots-clés : autism spectrum disorder c-MET social brain neurodevelopment Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay. On the other allele, patients carried the C allele of the MET promoter rs1858830 polymorphism, known to decrease MET expression and previously associated with autism susceptibility. The heterozygous mutation was associated with autism in one patient, and language and social impairment in a sibling. Our observations delineate the phenotypic spectrum associated with a clearly defined, very likely complete loss of function mutation of MET. Incomplete penetrance in this family was consistent with MET as a partial susceptibility gene for ASD. Implication of MET in normal and pathological brain development opens new perspectives for understanding the pathophysiology of autism and for eventual therapeutical clues. Autism Res 2014, 7: 617–622. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1396 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241 Facial expression recognition is linked to clinical and neurofunctional differences in autism / Hannah MEYER-LINDENBERG in Molecular Autism, 13 (2022)
PermalinkElectroencephalogram Coherence in Children With and Without Autism Spectrum Disorders: Decreased Interhemispheric Connectivity in Autism / Audrey M. CARSON in Autism Research, 7-3 (June 2014)
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