Architecture of the Genetic Risk for Autism / Pauline CHASTE in Key Issues in Mental Health, 180 (2015)

Public ISBD [article]  inKey Issues in Mental Health > 180 (2015) . - p.80-96 Titre : Architecture of the Genetic Risk for Autism Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Bernie DEVLIN, Auteur Article en page(s) : p.80-96 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : The past decade of investigation into the genetics of autism, marked by the identification of the first rare mutations in nonsyndromic autism and the development of genome-wide genotyping and sequencing techniques, has resulted in remarkable advances in our understanding of the genetic architecture of the risk for autism spectrum disorders (ASD). Indeed, from a population genetics perspective, it can be argued that an accurate synopsis of the genetic architecture of ASD is already in hand. Integrating all of the evidence, there can be no doubt that both rare and common variations play a role in the inherited risk for ASD. The picture of genetic risk that has emerged based on recent results is much more complex than many had imagined, and in many ways it looks like the polygenic model first proposed. Nevertheless, there seems to be some convergence on a limited number of cellular processes, which bodes well for the development of new treatments. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Architecture of the Genetic Risk for Autism [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Bernie DEVLIN, Auteur . - p.80-96. Langues : Anglais (eng) in Key Issues in Mental Health > 180 (2015) . - p.80-96 Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : The past decade of investigation into the genetics of autism, marked by the identification of the first rare mutations in nonsyndromic autism and the development of genome-wide genotyping and sequencing techniques, has resulted in remarkable advances in our understanding of the genetic architecture of the risk for autism spectrum disorders (ASD). Indeed, from a population genetics perspective, it can be argued that an accurate synopsis of the genetic architecture of ASD is already in hand. Integrating all of the evidence, there can be no doubt that both rare and common variations play a role in the inherited risk for ASD. The picture of genetic risk that has emerged based on recent results is much more complex than many had imagined, and in many ways it looks like the polygenic model first proposed. Nevertheless, there seems to be some convergence on a limited number of cellular processes, which bodes well for the development of new treatments. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271

Common genetic variants, acting additively, are a major source of risk for autism / Lambertus KLEI in Molecular Autism, (October 2012)  

Public ISBD [article]  inMolecular Autism > (October 2012) . - 13 p. Titre : Common genetic variants, acting additively, are a major source of risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Narrow-sense heritability  Multiplex  Simplex  Quantitative genetics Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability. En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Common genetic variants, acting additively, are a major source of risk for autism [Texte imprimé et/ou numérique] / Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur . - 2012 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (October 2012) . - 13 p. Mots-clés : Narrow-sense heritability  Multiplex  Simplex  Quantitative genetics Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability. En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Episodic memory and self-awareness in Asperger Syndrome: Analysis of memory narratives / Valérie CHAPUT in Research in Autism Spectrum Disorders, 7-9 (September 2013)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 7-9 (September 2013) . - p.1062-1067 Titre : Episodic memory and self-awareness in Asperger Syndrome: Analysis of memory narratives Type de document : Texte imprimé et/ou numérique Auteurs : Valérie CHAPUT, Auteur ; Frédérique AMSELLEM, Auteur ; Isabel URDAPILLETA, Auteur ; Pauline CHASTE, Auteur ; Marion LEBOYER, Auteur ; Richard DELORME, Auteur ; Véronique GOUSSE, Auteur Article en page(s) : p.1062-1067 Langues : Anglais (eng) Mots-clés : Episodic memory  Asperger Syndrome  Self-awareness  Autonoetic consciousness  Theory of mind Index. décimale : PER Périodiques Résumé : Abstract Previous findings from researchers on individuals with Asperger Syndrome (AS) suggest peculiarities of autobiographical memory (AM). They have shown a personal episodic memory deficit in the absence of a personal semantic memory impairment. The primary aim of this study was to explore AM in individuals with AS, and more specifically to investigate the link between episodic memory, self-awareness, and autonoetic consciousness through language analysis. We asked fifteen adults with AS and fifteen age- and IQ-matched controls to recall autobiographical memories from three life periods. Recorded interviews were processed using Alceste software. We found that participants with AS recalled fewer and less-detailed episodic memories than did controls. A content analysis revealed that family-related vocabulary as well as possessive pronouns was significantly less frequent in AS interviews than in those of controls. In conclusion, our results support the hypothesis that a deficiency of episodic memory may be due to poor awareness of the self in social relationships. Reduced use of possessive pronouns may also indicate less self-investment in life experiences, which would in turn impact recall. En ligne : http://dx.doi.org/10.1016/j.rasd.2013.05.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211 [article] Episodic memory and self-awareness in Asperger Syndrome: Analysis of memory narratives [Texte imprimé et/ou numérique] / Valérie CHAPUT, Auteur ; Frédérique AMSELLEM, Auteur ; Isabel URDAPILLETA, Auteur ; Pauline CHASTE, Auteur ; Marion LEBOYER, Auteur ; Richard DELORME, Auteur ; Véronique GOUSSE, Auteur . - p.1062-1067. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 7-9 (September 2013) . - p.1062-1067 Mots-clés : Episodic memory  Asperger Syndrome  Self-awareness  Autonoetic consciousness  Theory of mind Index. décimale : PER Périodiques Résumé : Abstract Previous findings from researchers on individuals with Asperger Syndrome (AS) suggest peculiarities of autobiographical memory (AM). They have shown a personal episodic memory deficit in the absence of a personal semantic memory impairment. The primary aim of this study was to explore AM in individuals with AS, and more specifically to investigate the link between episodic memory, self-awareness, and autonoetic consciousness through language analysis. We asked fifteen adults with AS and fifteen age- and IQ-matched controls to recall autobiographical memories from three life periods. Recorded interviews were processed using Alceste software. We found that participants with AS recalled fewer and less-detailed episodic memories than did controls. A content analysis revealed that family-related vocabulary as well as possessive pronouns was significantly less frequent in AS interviews than in those of controls. In conclusion, our results support the hypothesis that a deficiency of episodic memory may be due to poor awareness of the self in social relationships. Reduced use of possessive pronouns may also indicate less self-investment in life experiences, which would in turn impact recall. En ligne : http://dx.doi.org/10.1016/j.rasd.2013.05.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211

Exploration de deux processus associés à l’autisme : la synaptogénèse et la signalisation de la mélatonine / Pauline CHASTE in Bulletin Scientifique de l'arapi (Le), 26 (Décembre 2010)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 26 (Décembre 2010) . - p.50-54 Titre : Exploration de deux processus associés à l’autisme : la synaptogénèse et la signalisation de la mélatonine Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur Année de publication : 2010 Article en page(s) : p.50-54 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=116 [article] Exploration de deux processus associés à l’autisme : la synaptogénèse et la signalisation de la mélatonine [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur . - 2010 . - p.50-54. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 26 (Décembre 2010) . - p.50-54 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=116

From Autism to Autism Spectrum Disorders / Oriane MERCATI in Key Issues in Mental Health, 180 (2015)

Public ISBD [article]  inKey Issues in Mental Health > 180 (2015) . - p.1-4 Titre : From Autism to Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Oriane MERCATI, Auteur ; Pauline CHASTE, Auteur Article en page(s) : p.1-4 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] From Autism to Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Oriane MERCATI, Auteur ; Pauline CHASTE, Auteur . - p.1-4. Langues : Anglais (eng) in Key Issues in Mental Health > 180 (2015) . - p.1-4 Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters / Pauline CHASTE in Molecular Autism, (June 2012)  

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Imagerie cérébrale en psychiatrie / Josselin HOUENOU

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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)  

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On the Neuroimaging of Autism in the Context of Human Brain Diversity / Josselin HOUENOU in Key Issues in Mental Health, 180 (2015)

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Risque d’autisme : une architecture complexe / Pauline CHASTE in Enfances & psy, 80 ([01/12/2018])  

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The Role of Causal and Intentional Judgments in Moral Reasoning in Individuals with High Functioning Autism / Marine BUON in Journal of Autism and Developmental Disorders, 43-2 (February 2013)  

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