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Faire une suggestionAn integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure / Jane SUMMERS in Journal of Neurodevelopmental Disorders, 16 (2024)
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Titre : An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure Type de document : texte imprimé Auteurs : Jane SUMMERS, Auteur ; Danielle BARIBEAU, Auteur ; Polina PERLMAN, Auteur ; Ny HOANG, Auteur ; Sunny CUI, Auteur ; Aneta KRAKOWSKI, Auteur ; Patricia AMBROZEWICZ, Auteur ; Ariel HO, Auteur ; Thanuja SELVANAYAGAM, Auteur ; Kinga A. SÁNDOR-BAJUSZ, Auteur ; Katrina PALAD, Auteur ; Nishi PATEL, Auteur ; Sarah MCGAUGHEY, Auteur ; Louise GALLAGHER, Auteur ; Stephen W. SCHERER, Auteur ; Peter SZATMARI, Auteur ; Jacob VORSTMAN, Auteur Langues : Anglais (eng) Mots-clés : Humans Child Neurodevelopmental Disorders/genetics Female Male Mental Disorders/genetics Genetic Predisposition to Disease Adolescent Genetic disorder Genetics Interdisciplinary clinic Mental health Neurodevelopmental disorder Psychiatry Psychology Research framework speaker fees for Henry Stewart Talks Ltd. S.W.S. is on the Scientific Advisory Committee of Population Bio, Deep Genomics, and serves as a Highly Cited Academic Advisor for King Abdulaziz University. Intellectual property from aspects of his research held at The Hospital for Sick Children are licensed to Athena Diagnostics and Population Bio. D.B. has received research funding from MapLight therapeutics. These relationships did not influence content of this manuscript but are disclosed for potential future considerations. Index. décimale : PER Périodiques Résumé : BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population. En ligne : https://dx.doi.org/10.1186/s11689-024-09552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575
in Journal of Neurodevelopmental Disorders > 16 (2024)[article] An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure [texte imprimé] / Jane SUMMERS, Auteur ; Danielle BARIBEAU, Auteur ; Polina PERLMAN, Auteur ; Ny HOANG, Auteur ; Sunny CUI, Auteur ; Aneta KRAKOWSKI, Auteur ; Patricia AMBROZEWICZ, Auteur ; Ariel HO, Auteur ; Thanuja SELVANAYAGAM, Auteur ; Kinga A. SÁNDOR-BAJUSZ, Auteur ; Katrina PALAD, Auteur ; Nishi PATEL, Auteur ; Sarah MCGAUGHEY, Auteur ; Louise GALLAGHER, Auteur ; Stephen W. SCHERER, Auteur ; Peter SZATMARI, Auteur ; Jacob VORSTMAN, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 16 (2024)
Mots-clés : Humans Child Neurodevelopmental Disorders/genetics Female Male Mental Disorders/genetics Genetic Predisposition to Disease Adolescent Genetic disorder Genetics Interdisciplinary clinic Mental health Neurodevelopmental disorder Psychiatry Psychology Research framework speaker fees for Henry Stewart Talks Ltd. S.W.S. is on the Scientific Advisory Committee of Population Bio, Deep Genomics, and serves as a Highly Cited Academic Advisor for King Abdulaziz University. Intellectual property from aspects of his research held at The Hospital for Sick Children are licensed to Athena Diagnostics and Population Bio. D.B. has received research funding from MapLight therapeutics. These relationships did not influence content of this manuscript but are disclosed for potential future considerations. Index. décimale : PER Périodiques Résumé : BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population. En ligne : https://dx.doi.org/10.1186/s11689-024-09552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 Commentary: Broadening the research remit of participatory methods in autism science - a commentary on Happe and Frith (2020) / Elizabeth PELLICANO in Journal of Child Psychology and Psychiatry, 61-3 (March 2020)
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Titre : Commentary: Broadening the research remit of participatory methods in autism science - a commentary on Happe and Frith (2020) Type de document : texte imprimé Auteurs : Elizabeth PELLICANO, Auteur Article en page(s) : p.233-235 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders Cognition Psychology Index. décimale : PER Périodiques Résumé : Autism science has transformed beyond recognition in the last two decades. International investment has grown extensively and the number of papers published on autism has increased 10-fold (Pellicano et al., 2014), far surpassing publications on related topics. The sheer amount of scientific research on autism has no doubt been instrumental in many of the discoveries and insights so eloquently described by Happe and Frith (2020). But, as autistic scientist Michelle Dawson reminds us, quality matters too and, for that reason, it is a delight to recognise the contribution that both Happe and Frith have made, dramatically changing our understanding of autism in a host of ways. En ligne : http://dx.doi.org/10.1111/jcpp.13212 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420
in Journal of Child Psychology and Psychiatry > 61-3 (March 2020) . - p.233-235[article] Commentary: Broadening the research remit of participatory methods in autism science - a commentary on Happe and Frith (2020) [texte imprimé] / Elizabeth PELLICANO, Auteur . - p.233-235.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 61-3 (March 2020) . - p.233-235
Mots-clés : Autism spectrum disorders Cognition Psychology Index. décimale : PER Périodiques Résumé : Autism science has transformed beyond recognition in the last two decades. International investment has grown extensively and the number of papers published on autism has increased 10-fold (Pellicano et al., 2014), far surpassing publications on related topics. The sheer amount of scientific research on autism has no doubt been instrumental in many of the discoveries and insights so eloquently described by Happe and Frith (2020). But, as autistic scientist Michelle Dawson reminds us, quality matters too and, for that reason, it is a delight to recognise the contribution that both Happe and Frith have made, dramatically changing our understanding of autism in a host of ways. En ligne : http://dx.doi.org/10.1111/jcpp.13212 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 An Auto ethnography of Parenting a Daughter whose Complex Disability was Diagnosed in her Adulthood / J. ALCOCK in Autism - Open Access, 6-5 ([01/09/2016])
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Titre : An Auto ethnography of Parenting a Daughter whose Complex Disability was Diagnosed in her Adulthood Type de document : texte imprimé Auteurs : J. ALCOCK, Auteur Article en page(s) : 10 p. Langues : Anglais (eng) Mots-clés : Adulthood Auto ethnography Complex disability Psychology Autism Index. décimale : PER Périodiques Résumé : This auto ethnography explores my journey as a mother of a woman with intellectual disabilities whose complex needs and behaviour has presented significant challenges to services. My biographical accounts include the experiences of receiving my daughter’s diagnoses of a rare chromosome disorder and autism in her adulthood. The former allowed a unique story which emerged from phenomena that is being swept in by the tide of the technological revolution in the detection of gene mutations and structural genomic variations causing learning disability. Within the theoretical frameworks of critical disability studies, social constructionism and family systems approaches, I weave 31 years of autobiographical accounts with cultural and structural factors that influence the experiences of parents of children with learning disabilities. Included in the investigations were the uncovering of new knowledge about the culture of intellectual disability and an examination of the events leading up to my daughter’s four-year incarceration in an institution. Evidence of oppressive, dehumanising social policies and practices intersect with new themes, including the journey from asking ‘why?’ to knowing, and chasing new ‘fixes’ to the liberating possibilities of policy changes and transformative validation. En ligne : https://dx.doi.org/10.4172/2165-7890.1000193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 6-5 [01/09/2016] . - 10 p.[article] An Auto ethnography of Parenting a Daughter whose Complex Disability was Diagnosed in her Adulthood [texte imprimé] / J. ALCOCK, Auteur . - 10 p.
Langues : Anglais (eng)
in Autism - Open Access > 6-5 [01/09/2016] . - 10 p.
Mots-clés : Adulthood Auto ethnography Complex disability Psychology Autism Index. décimale : PER Périodiques Résumé : This auto ethnography explores my journey as a mother of a woman with intellectual disabilities whose complex needs and behaviour has presented significant challenges to services. My biographical accounts include the experiences of receiving my daughter’s diagnoses of a rare chromosome disorder and autism in her adulthood. The former allowed a unique story which emerged from phenomena that is being swept in by the tide of the technological revolution in the detection of gene mutations and structural genomic variations causing learning disability. Within the theoretical frameworks of critical disability studies, social constructionism and family systems approaches, I weave 31 years of autobiographical accounts with cultural and structural factors that influence the experiences of parents of children with learning disabilities. Included in the investigations were the uncovering of new knowledge about the culture of intellectual disability and an examination of the events leading up to my daughter’s four-year incarceration in an institution. Evidence of oppressive, dehumanising social policies and practices intersect with new themes, including the journey from asking ‘why?’ to knowing, and chasing new ‘fixes’ to the liberating possibilities of policy changes and transformative validation. En ligne : https://dx.doi.org/10.4172/2165-7890.1000193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder / Miia KAARTINEN in Autism, 23-1 (January 2019)
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Titre : Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder Type de document : texte imprimé Auteurs : Miia KAARTINEN, Auteur ; Kaija PUURA, Auteur ; Päivi PISPA, Auteur ; Mika HELMINEN, Auteur ; Raili SALMELIN, Auteur ; Erja PELKONEN, Auteur ; P. JUUJARVI, Auteur ; Esther B. KESSLER, Auteur ; David H. SKUSE, Auteur Article en page(s) : p.154-166 Langues : Anglais (eng) Mots-clés : autism severity autism spectrum disorder cooperation reactive aggression gender-differences children oxytocin behavior adolescents evolution competition prevalence trust Psychology Index. décimale : PER Périodiques Résumé : Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder-related social impairments. The participants performed a modified version of the Prisoner's Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively. Autism spectrum disorder severity-related Autism Diagnostic Interview-algorithm scores were ascertained by interviewing the parents of the participants with a semi-structured parental interview (Developmental, Dimensional and Diagnostic Interview). The results showed that albeit the boys with autism spectrum disorder were able to engage in reciprocation and cooperation regardless of their social impairments, their cooperativeness was positively associated with lower levels of reactive aggression and older age. Thus, strengthening inhibition mechanisms that regulate reactive aggression might make boys with autism spectrum disorder more likely to prefer mutual gain over self-interest in cooperation. En ligne : http://dx.doi.org/10.1177/1362361317726417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379
in Autism > 23-1 (January 2019) . - p.154-166[article] Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder [texte imprimé] / Miia KAARTINEN, Auteur ; Kaija PUURA, Auteur ; Päivi PISPA, Auteur ; Mika HELMINEN, Auteur ; Raili SALMELIN, Auteur ; Erja PELKONEN, Auteur ; P. JUUJARVI, Auteur ; Esther B. KESSLER, Auteur ; David H. SKUSE, Auteur . - p.154-166.
Langues : Anglais (eng)
in Autism > 23-1 (January 2019) . - p.154-166
Mots-clés : autism severity autism spectrum disorder cooperation reactive aggression gender-differences children oxytocin behavior adolescents evolution competition prevalence trust Psychology Index. décimale : PER Périodiques Résumé : Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder-related social impairments. The participants performed a modified version of the Prisoner's Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively. Autism spectrum disorder severity-related Autism Diagnostic Interview-algorithm scores were ascertained by interviewing the parents of the participants with a semi-structured parental interview (Developmental, Dimensional and Diagnostic Interview). The results showed that albeit the boys with autism spectrum disorder were able to engage in reciprocation and cooperation regardless of their social impairments, their cooperativeness was positively associated with lower levels of reactive aggression and older age. Thus, strengthening inhibition mechanisms that regulate reactive aggression might make boys with autism spectrum disorder more likely to prefer mutual gain over self-interest in cooperation. En ligne : http://dx.doi.org/10.1177/1362361317726417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379 Autism spectrum disorder and interoception: Abnormalities in global integration? / Timothy R. HATFIELD in Autism, 23-1 (January 2019)
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Titre : Autism spectrum disorder and interoception: Abnormalities in global integration? Type de document : texte imprimé Auteurs : Timothy R. HATFIELD, Auteur ; Rhonda F. BROWN, Auteur ; Melita J. GIUMMARRA, Auteur ; Bigna LENGGENHAGER, Auteur Article en page(s) : p.212-222 Langues : Anglais (eng) Mots-clés : alexithymia autism spectrum disorder body interoception sensory experiences weak central coherence high-functioning autism individual-differences asperger-syndrome awareness cortical underconnectivity physiological condition central coherence anterior insula weak coherence brain Psychology Index. décimale : PER Périodiques Résumé : Research over the past three decades has seen a revived interest in the way the human body-and the way in which it is perceived-interacts with aspects of our experience. Consequently, interoception (i.e. the perception of physiological feedback from the body) has recently been shown to be associated with a wide range of cognitive, emotional, and affective functions, making it broadly relevant to the study of autism spectrum disorder. Although limited qualitative accounts and empirical studies suggest that individuals with autism spectrum disorder encounter abnormalities when perceiving and integrating physiological feedback from their bodies, other studies have suggested that people with/without autism spectrum disorder do not differ in interoceptive ability after accounting for alexithymia. In this article, we discuss the newly recognized importance of interoception in autism spectrum disorder with a focus on how deficits in the perception of bodily feedback might relate to the core features and co-occuring psychopathology of autism spectrum disorder. Finally, a new integrated theory is advanced which posits that people with autism spectrum disorder may experience a reduced capacity to integrate interoceptive information that may result in a narrow attentional bodily focus and reduced motivational and behavioral drives. En ligne : http://dx.doi.org/10.1177/1362361317738392 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379
in Autism > 23-1 (January 2019) . - p.212-222[article] Autism spectrum disorder and interoception: Abnormalities in global integration? [texte imprimé] / Timothy R. HATFIELD, Auteur ; Rhonda F. BROWN, Auteur ; Melita J. GIUMMARRA, Auteur ; Bigna LENGGENHAGER, Auteur . - p.212-222.
Langues : Anglais (eng)
in Autism > 23-1 (January 2019) . - p.212-222
Mots-clés : alexithymia autism spectrum disorder body interoception sensory experiences weak central coherence high-functioning autism individual-differences asperger-syndrome awareness cortical underconnectivity physiological condition central coherence anterior insula weak coherence brain Psychology Index. décimale : PER Périodiques Résumé : Research over the past three decades has seen a revived interest in the way the human body-and the way in which it is perceived-interacts with aspects of our experience. Consequently, interoception (i.e. the perception of physiological feedback from the body) has recently been shown to be associated with a wide range of cognitive, emotional, and affective functions, making it broadly relevant to the study of autism spectrum disorder. Although limited qualitative accounts and empirical studies suggest that individuals with autism spectrum disorder encounter abnormalities when perceiving and integrating physiological feedback from their bodies, other studies have suggested that people with/without autism spectrum disorder do not differ in interoceptive ability after accounting for alexithymia. In this article, we discuss the newly recognized importance of interoception in autism spectrum disorder with a focus on how deficits in the perception of bodily feedback might relate to the core features and co-occuring psychopathology of autism spectrum disorder. Finally, a new integrated theory is advanced which posits that people with autism spectrum disorder may experience a reduced capacity to integrate interoceptive information that may result in a narrow attentional bodily focus and reduced motivational and behavioral drives. En ligne : http://dx.doi.org/10.1177/1362361317738392 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379 Autism spectrum disorder screening with the CBCL/11/2-5: Findings for young children at high risk for autism spectrum disorder / Leslie A. RESCORLA in Autism, 23-1 (January 2019)
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PermalinkChanges in spending and service use after a state autism insurance mandate / Brendan SALONER in Autism, 23-1 (January 2019)
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PermalinkCharacteristics of autism spectrum disorder in anorexia nervosa: A naturalistic study in an inpatient treatment programme / Kate TCHANTURIA in Autism, 23-1 (January 2019)
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PermalinkCorrelates of adaptive behavior profiles in a large cohort of children with autism: The autism speaks Autism Treatment Network registry data / M. PATHAK in Autism, 23-1 (January 2019)
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PermalinkEducator perspectives on the postsecondary transition difficulties of students with autism / Rebecca ELIAS in Autism, 23-1 (January 2019)
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