Autism Spectrum Disorder (ASD) and Unlawful Behaviour: Where Do We Go from Here? / Marc WOODBURY-SMITH in Journal of Autism and Developmental Disorders, 44-11 (November 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-11 (November 2014) . - p.2734-2741 Titre : Autism Spectrum Disorder (ASD) and Unlawful Behaviour: Where Do We Go from Here? Type de document : Texte imprimé et/ou numérique Auteurs : Marc WOODBURY-SMITH, Auteur ; Kalpana DEIN, Auteur Article en page(s) : p.2734-2741 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Adulthood  Outcome  Criminal behaviour Index. décimale : PER Périodiques Résumé : There exists now a body of research that describes case studies of individuals with autism spectrum disorder (ASD) who have engaged, or are alleged to have engaged, in a range of illegal behaviours, and that attempts to estimate the prevalence of ASD at different stages of the criminal justice process. Taken together, this research does suggest that some individuals with ASD will come into contact with the criminal justice system, but many questions regarding this apparent association remain unanswered. The purpose of this review is to propose a direction for research to address some of these unanswered questions and potentially inform the development of treatments and service provision. En ligne : http://dx.doi.org/10.1007/s10803-014-2216-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241 [article] Autism Spectrum Disorder (ASD) and Unlawful Behaviour: Where Do We Go from Here? [Texte imprimé et/ou numérique] / Marc WOODBURY-SMITH, Auteur ; Kalpana DEIN, Auteur . - p.2734-2741. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-11 (November 2014) . - p.2734-2741 Mots-clés : Autism spectrum disorder (ASD)  Adulthood  Outcome  Criminal behaviour Index. décimale : PER Périodiques Résumé : There exists now a body of research that describes case studies of individuals with autism spectrum disorder (ASD) who have engaged, or are alleged to have engaged, in a range of illegal behaviours, and that attempts to estimate the prevalence of ASD at different stages of the criminal justice process. Taken together, this research does suggest that some individuals with ASD will come into contact with the criminal justice system, but many questions regarding this apparent association remain unanswered. The purpose of this review is to propose a direction for research to address some of these unanswered questions and potentially inform the development of treatments and service provision. En ligne : http://dx.doi.org/10.1007/s10803-014-2216-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241

Diagnostic Issues and Complexities in Autism and Related Conditions / Marc WOODBURY-SMITH ; Suzanne L. MACARI ; Roald A. ØIEN

Public ISBD in Differential diagnosis of autism spectrum disorder / Katherine K. M. STAVROPOULOS Titre : Diagnostic Issues and Complexities in Autism and Related Conditions Type de document : Texte imprimé et/ou numérique Auteurs : Marc WOODBURY-SMITH, Auteur ; Suzanne L. MACARI, Auteur ; Roald A. ØIEN, Auteur Année de publication : 2022 Importance : p.1-21 Langues : Anglais (eng) Index. décimale : AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic Résumé : Since the first recognition of autism and Asperger?s disorder, there have been important debates about the boundaries of these conditions and the degree to which they ?shade off? into normalcy. These debates have centered on the relevance of a narrow versus broad view of the clinical disorder(s) as well as on the implications of its complex genetic underpinnings and increased knowledge of the social neuroscience of autism and related conditions. With the recognition of the complexity of the genetics of autism there has been much debate regarding the broader autism phenotype and the potential adaptive function of some aspects of the condition. In addition, concerns with boundary issues in relation to cognitive and communicative ability, and the relevance of gender, diverse backgrounds, and cultural issues have all arisen. The current DSM-5 definition was developed using research instruments and has proven overly stringent in important respects. Clarification of these issues will enhance both clinical work and research. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528 in Differential diagnosis of autism spectrum disorder / Katherine K. M. STAVROPOULOS Diagnostic Issues and Complexities in Autism and Related Conditions [Texte imprimé et/ou numérique] / Marc WOODBURY-SMITH, Auteur ; Suzanne L. MACARI, Auteur ; Roald A. ØIEN, Auteur . - 2022 . - p.1-21. Langues : Anglais (eng) Index. décimale : AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic Résumé : Since the first recognition of autism and Asperger?s disorder, there have been important debates about the boundaries of these conditions and the degree to which they ?shade off? into normalcy. These debates have centered on the relevance of a narrow versus broad view of the clinical disorder(s) as well as on the implications of its complex genetic underpinnings and increased knowledge of the social neuroscience of autism and related conditions. With the recognition of the complexity of the genetics of autism there has been much debate regarding the broader autism phenotype and the potential adaptive function of some aspects of the condition. In addition, concerns with boundary issues in relation to cognitive and communicative ability, and the relevance of gender, diverse backgrounds, and cultural issues have all arisen. The current DSM-5 definition was developed using research instruments and has proven overly stringent in important respects. Clarification of these issues will enhance both clinical work and research. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528

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Editorial: ASD and Illegal Behaviors / Marc WOODBURY-SMITH in Journal of Autism and Developmental Disorders, 44-11 (November 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-11 (November 2014) . - p.2679-2681 Titre : Editorial: ASD and Illegal Behaviors Type de document : Texte imprimé et/ou numérique Auteurs : Marc WOODBURY-SMITH, Auteur Article en page(s) : p.2679-2681 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Adulthood  Outcome  Criminal behaviour Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-014-2237-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241 [article] Editorial: ASD and Illegal Behaviors [Texte imprimé et/ou numérique] / Marc WOODBURY-SMITH, Auteur . - p.2679-2681. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-11 (November 2014) . - p.2679-2681 Mots-clés : Autism spectrum disorder (ASD)  Adulthood  Outcome  Criminal behaviour Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-014-2237-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241

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

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

How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians / David MASON in Autism, 25-3 (April 2021)  

Public ISBD [article]  inAutism > 25-3 (April 2021) . - p.774-785 Titre : How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians Type de document : Texte imprimé et/ou numérique Auteurs : David MASON, Auteur ; Barry INGHAM, Auteur ; Heather BIRTLES, Auteur ; Cos MICHAEL, Auteur ; Clare SCARLETT, Auteur ; Ian A. JAMES, Auteur ; Toni BROWN, Auteur ; Marc WOODBURY-SMITH, Auteur ; Colin WILSON, Auteur ; Tracy FINCH, Auteur ; Jeremy R. PARR, Auteur Article en page(s) : p.774-785 Langues : Anglais (eng) Mots-clés : barriers to healthcare  health services  qualitative research Index. décimale : PER Périodiques Résumé : Research has shown that on average, autistic people are more likely to die earlier than non-autistic people, and barriers can stop autistic people accessing healthcare. We carried out a study where we interviewed healthcare professionals (including doctors and nurses), and held discussion groups of autistic people. Our results highlighted several key points: seeing the same professional is important for autistic people and clinicians; both clinicians and autistic people think making adjustments to healthcare is important (and often possible); autistic people process information in a different way and so may need extra support in appointments; and that clinicians are often constrained by time pressures or targets. En ligne : http://dx.doi.org/10.1177/1362361321993709 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 [article] How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians [Texte imprimé et/ou numérique] / David MASON, Auteur ; Barry INGHAM, Auteur ; Heather BIRTLES, Auteur ; Cos MICHAEL, Auteur ; Clare SCARLETT, Auteur ; Ian A. JAMES, Auteur ; Toni BROWN, Auteur ; Marc WOODBURY-SMITH, Auteur ; Colin WILSON, Auteur ; Tracy FINCH, Auteur ; Jeremy R. PARR, Auteur . - p.774-785. Langues : Anglais (eng) in Autism > 25-3 (April 2021) . - p.774-785 Mots-clés : barriers to healthcare  health services  qualitative research Index. décimale : PER Périodiques Résumé : Research has shown that on average, autistic people are more likely to die earlier than non-autistic people, and barriers can stop autistic people accessing healthcare. We carried out a study where we interviewed healthcare professionals (including doctors and nurses), and held discussion groups of autistic people. Our results highlighted several key points: seeing the same professional is important for autistic people and clinicians; both clinicians and autistic people think making adjustments to healthcare is important (and often possible); autistic people process information in a different way and so may need extra support in appointments; and that clinicians are often constrained by time pressures or targets. En ligne : http://dx.doi.org/10.1177/1362361321993709 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444

Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5 / Fred R. VOLKMAR in Development and Psychopathology, 33-2 (May 2021)  

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The role of prenatal immune activation in the pathogenesis of autism and schizophrenia: A literature review / Amanda EASSON in Research in Autism Spectrum Disorders, 8-3 (March 2014)  

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