Development, behaviour and autism in individuals with SMC1A variants / P. A. MULDER in Journal of Child Psychology and Psychiatry, 60-3 (March 2019)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 60-3 (March 2019) . - p.305-313 Titre : Development, behaviour and autism in individuals with SMC1A variants Type de document : Texte imprimé et/ou numérique Auteurs : P. A. MULDER, Auteur ; S. HUISMAN, Auteur ; A. M. LANDLUST, Auteur ; J. MOSS, Auteur ; S. PIENING, Auteur ; R. C. HENNEKAM, Auteur ; I. D. C. VAN BALKOM, Auteur Article en page(s) : p.305-313 Langues : Anglais (eng) Mots-clés : Behavioural phenotype  autism  cognition  cornelia de lange syndrome  rett syndrome  self-injurious behaviour Index. décimale : PER Périodiques Résumé : INTRODUCTION: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. METHODS: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. RESULTS: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. CONCLUSIONS: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families. En ligne : https://dx.doi.org/10.1111/jcpp.12979 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=385 [article] Development, behaviour and autism in individuals with SMC1A variants [Texte imprimé et/ou numérique] / P. A. MULDER, Auteur ; S. HUISMAN, Auteur ; A. M. LANDLUST, Auteur ; J. MOSS, Auteur ; S. PIENING, Auteur ; R. C. HENNEKAM, Auteur ; I. D. C. VAN BALKOM, Auteur . - p.305-313. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 60-3 (March 2019) . - p.305-313 Mots-clés : Behavioural phenotype  autism  cognition  cornelia de lange syndrome  rett syndrome  self-injurious behaviour Index. décimale : PER Périodiques Résumé : INTRODUCTION: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. METHODS: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. RESULTS: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. CONCLUSIONS: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families. En ligne : https://dx.doi.org/10.1111/jcpp.12979 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=385

Dynamic Interactive Social Cognition Training in Virtual Reality (DiSCoVR) for adults with Autism Spectrum Disorder: A feasibility study / B. J. VAN PELT in Research in Autism Spectrum Disorders, 96 (August 2022)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 96 (August 2022) . - 102003 Titre : Dynamic Interactive Social Cognition Training in Virtual Reality (DiSCoVR) for adults with Autism Spectrum Disorder: A feasibility study Type de document : Texte imprimé et/ou numérique Auteurs : B. J. VAN PELT, Auteur ; S. A. NIJMAN, Auteur ; N. E. M. VAN HAREN, Auteur ; W. VELING, Auteur ; G. H. M. PIJNENBORG, Auteur ; I. D. C. VAN BALKOM, Auteur ; A. M. LANDLUST, Auteur ; K. GREAVES-LORD, Auteur Article en page(s) : 102003 Langues : Anglais (eng) Mots-clés : Social cognition training  Virtual reality  Autism spectrum disorder  Emotion perception  Theory of mind  Social functioning Index. décimale : PER Périodiques Résumé : Background Social cognitive difficulties in Autism Spectrum Disorder (ASD) can affect the daily lives of people with ASD profoundly, impacting the development and maintenance of meaningful social relations. Social cognition training (SCT) is commonly used for improving social functioning, but lacks ecological validity and the ability to effectively mimic social situations. Development of virtual reality (VR) interventions, focusing on enhancing social cognition, could add to the effectiveness of SCT within ASD care, by offering a safe, interactive and practical training setting, where generalization of knowledge and skills to the real-world are promoted. In this paper, our primary aim is to evaluate the feasibility and acceptance by participants and therapists of the Dynamic Interactive Social Cognition Method Training in Virtual Reality (DiSCoVR) protocol as developed for adults with schizophrenic spectrum disorder (SSD), adapted for ASD (DiSCoVR-A). 26 participants, aged 18?63, took part in a pilot study. 22 participants completed baseline and post-assessment, including primary outcome evaluation assessment through a semi-structured interview. Secondary measures focused on social cognition, emotion recognition, mental flexibility, social anxiety, empathy and social responsiveness and were assessed at baseline (T0), post-treatment (T1), and at follow-up (T2) sixteen weeks after completion of the intervention. Results Our results show that the majority of participant and therapists found the VR intervention acceptable and feasible, as reported in evaluation questionnaires and interviews. Conclusion These preliminary findings are promising; however, controlled research is needed to further investigate the effectiveness of VR within social cognition training for adults with ASD. En ligne : https://doi.org/10.1016/j.rasd.2022.102003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=480 [article] Dynamic Interactive Social Cognition Training in Virtual Reality (DiSCoVR) for adults with Autism Spectrum Disorder: A feasibility study [Texte imprimé et/ou numérique] / B. J. VAN PELT, Auteur ; S. A. NIJMAN, Auteur ; N. E. M. VAN HAREN, Auteur ; W. VELING, Auteur ; G. H. M. PIJNENBORG, Auteur ; I. D. C. VAN BALKOM, Auteur ; A. M. LANDLUST, Auteur ; K. GREAVES-LORD, Auteur . - 102003. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 96 (August 2022) . - 102003 Mots-clés : Social cognition training  Virtual reality  Autism spectrum disorder  Emotion perception  Theory of mind  Social functioning Index. décimale : PER Périodiques Résumé : Background Social cognitive difficulties in Autism Spectrum Disorder (ASD) can affect the daily lives of people with ASD profoundly, impacting the development and maintenance of meaningful social relations. Social cognition training (SCT) is commonly used for improving social functioning, but lacks ecological validity and the ability to effectively mimic social situations. Development of virtual reality (VR) interventions, focusing on enhancing social cognition, could add to the effectiveness of SCT within ASD care, by offering a safe, interactive and practical training setting, where generalization of knowledge and skills to the real-world are promoted. In this paper, our primary aim is to evaluate the feasibility and acceptance by participants and therapists of the Dynamic Interactive Social Cognition Method Training in Virtual Reality (DiSCoVR) protocol as developed for adults with schizophrenic spectrum disorder (SSD), adapted for ASD (DiSCoVR-A). 26 participants, aged 18?63, took part in a pilot study. 22 participants completed baseline and post-assessment, including primary outcome evaluation assessment through a semi-structured interview. Secondary measures focused on social cognition, emotion recognition, mental flexibility, social anxiety, empathy and social responsiveness and were assessed at baseline (T0), post-treatment (T1), and at follow-up (T2) sixteen weeks after completion of the intervention. Results Our results show that the majority of participant and therapists found the VR intervention acceptable and feasible, as reported in evaluation questionnaires and interviews. Conclusion These preliminary findings are promising; however, controlled research is needed to further investigate the effectiveness of VR within social cognition training for adults with ASD. En ligne : https://doi.org/10.1016/j.rasd.2022.102003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=480

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