124 recherche sur le mot-clé 'genetics'

Genetics and Child Psychiatry: I Advances in Quantitative and Molecular Genetics / Michael RUTTER in Journal of Child Psychology and Psychiatry, 40-1 (January 1999)

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 40-1 (January 1999) . - p.3-18 Titre : Genetics and Child Psychiatry: I Advances in Quantitative and Molecular Genetics Type de document : Texte imprimé et/ou numérique Auteurs : Michael RUTTER, Auteur ; Judy L. SILBERG, Auteur ; Thomas G. O'CONNOR, Auteur ; Emily SIMONOFF, Auteur Année de publication : 1999 Article en page(s) : p.3-18 Langues : Anglais (eng) Mots-clés : Genetics  psychiatric disorder  children  environmental influences  adoption  twins Index. décimale : PER Périodiques Résumé : Advances in quantitative psychiatric genetics as a whole are reviewed with respect to conceptual and methodological issues in relation to statistical model fitting, new genetic designs, twin and adoptee studies, definition of the phenotype, pervasiveness of genetic influences, pervasiveness of environmental influences, shared and nonshared environmental effects, and nature-nurture interplay. Advances in molecular genetics are discussed in relation to the shifts in research strategies to investigate multifactorial disorders (affected relative linkage designs, association strategies, and quantitative trait loci studies); new techniques and identified genetic mechanisms (expansion of trinucleotide repeats, genomic imprinting, mitochondrial DNA, fluorescent in-situ hybridisation, behavioural phenotypes, and animal models); and the successful localisation of genes. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=124 [article] Genetics and Child Psychiatry: I Advances in Quantitative and Molecular Genetics [Texte imprimé et/ou numérique] / Michael RUTTER, Auteur ; Judy L. SILBERG, Auteur ; Thomas G. O'CONNOR, Auteur ; Emily SIMONOFF, Auteur . - 1999 . - p.3-18. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 40-1 (January 1999) . - p.3-18 Mots-clés : Genetics  psychiatric disorder  children  environmental influences  adoption  twins Index. décimale : PER Périodiques Résumé : Advances in quantitative psychiatric genetics as a whole are reviewed with respect to conceptual and methodological issues in relation to statistical model fitting, new genetic designs, twin and adoptee studies, definition of the phenotype, pervasiveness of genetic influences, pervasiveness of environmental influences, shared and nonshared environmental effects, and nature-nurture interplay. Advances in molecular genetics are discussed in relation to the shifts in research strategies to investigate multifactorial disorders (affected relative linkage designs, association strategies, and quantitative trait loci studies); new techniques and identified genetic mechanisms (expansion of trinucleotide repeats, genomic imprinting, mitochondrial DNA, fluorescent in-situ hybridisation, behavioural phenotypes, and animal models); and the successful localisation of genes. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=124

Genetics and Child Psychiatry: II Empirical Research Findings / Michael RUTTER in Journal of Child Psychology and Psychiatry, 40-1 (January 1999)

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 40-1 (January 1999) . - p.19-55 Titre : Genetics and Child Psychiatry: II Empirical Research Findings Type de document : Texte imprimé et/ou numérique Auteurs : Michael RUTTER, Auteur ; Judy L. SILBERG, Auteur ; Thomas G. O'CONNOR, Auteur ; Emily SIMONOFF, Auteur Année de publication : 1999 Article en page(s) : p.19-55 Langues : Anglais (eng) Mots-clés : Genetics  affective disorder  schizophrenia  autism  hyperkinetic/attention deficit disorder  conduct disorder  drug/alcohol abuse  Tourette's syndrome/chronic tics Index. décimale : PER Périodiques Résumé : Key substantive findings from quantitative and molecular genetic research are reviewed in relation to affective disorder, schizophrenia, autism, hyperkinetic/attention deficit disorder, oppositional and conduct disorders, drug/alcohol problems, and Tourette's syndrome/chronic tics. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=124 [article] Genetics and Child Psychiatry: II Empirical Research Findings [Texte imprimé et/ou numérique] / Michael RUTTER, Auteur ; Judy L. SILBERG, Auteur ; Thomas G. O'CONNOR, Auteur ; Emily SIMONOFF, Auteur . - 1999 . - p.19-55. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 40-1 (January 1999) . - p.19-55 Mots-clés : Genetics  affective disorder  schizophrenia  autism  hyperkinetic/attention deficit disorder  conduct disorder  drug/alcohol abuse  Tourette's syndrome/chronic tics Index. décimale : PER Périodiques Résumé : Key substantive findings from quantitative and molecular genetic research are reviewed in relation to affective disorder, schizophrenia, autism, hyperkinetic/attention deficit disorder, oppositional and conduct disorders, drug/alcohol problems, and Tourette's syndrome/chronic tics. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=124

Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology / Anjene M. ADDINGTON in Journal of Child Psychology and Psychiatry, 53-5 (May 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-5 (May 2012) . - p.510-518 Titre : Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology Type de document : Texte imprimé et/ou numérique Auteurs : Anjene M. ADDINGTON, Auteur ; Judith RAPOPORT, Auteur Année de publication : 2012 Article en page(s) : p.510-518 Langues : Anglais (eng) Mots-clés : Developmental psychopathology  genetics  copy number variantspre-natal diagnosis  nosology  prevention Index. décimale : PER Périodiques Résumé : It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette’s Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02478.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=154 [article] Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology [Texte imprimé et/ou numérique] / Anjene M. ADDINGTON, Auteur ; Judith RAPOPORT, Auteur . - 2012 . - p.510-518. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-5 (May 2012) . - p.510-518 Mots-clés : Developmental psychopathology  genetics  copy number variantspre-natal diagnosis  nosology  prevention Index. décimale : PER Périodiques Résumé : It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette’s Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02478.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=154

Annual Research Review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing – unveiling the dark matter / Dominik P. KISER in Journal of Child Psychology and Psychiatry, 56-3 (March 2015)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 56-3 (March 2015) . - p.278-295 Titre : Annual Research Review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing – unveiling the dark matter Type de document : Texte imprimé et/ou numérique Auteurs : Dominik P. KISER, Auteur ; Olga RIVERO, Auteur ; Klaus-Peter LESCH, Auteur Article en page(s) : p.278-295 Langues : Anglais (eng) Mots-clés : Neurodevelopmental disorders  intellectual disability  autism  ADHD  genetics  epigenetic programming  whole-genome screening  evolution Index. décimale : PER Périodiques Résumé : Background and Scope Neurodevelopmental disorders (NDDs) are defined by a wide variety of behavioural phenotypes, psychopathology and clinically informed categorical classifications. Diagnostic entities include intellectual disability (ID), the autism spectrum (ASD) and attention-deficit/hyperactivity disorder (ADHD). The aetiopathogenesis of these conditions and disorders involves an interaction between both genetic and environmental risk factors on the developmental trajectory. Despite their remarkable genetic heterogeneity and complexity of pathophysiological mechanisms, NDDs display an overlap in their phenotypic features, a considerable degree of comorbidity as well as sharing of genetic and environmental risk factors. This review aims to provide an overview of the genetics and epigenetic of NDDs. Findings Recent evidence suggests a critical role of defined and tightly regulated neurodevelopmental programs running out of control in NDDs, most notably neuronal proliferation and migration, synapse formation and remodelling, as well as neural network configuration resulting in compromised systems connectivity and function. Moreover, the machinery of epigenetic programming, interacting with genetic liability, impacts many of those processes and pathways, thus modifying vulnerability of, and resilience to, NDDs. Consequently, the categorically defined entities of ID, ADHD and ASD are increasingly viewed as disorders on a multidimensional continuum of molecular and cellular deficiencies in neurodevelopment. As such, this range of NDDs displays a broad phenotypic diversity, which may be explained by a combination and interplay of underlying loss- and potential gain-of-function traits. Conclusion In this overview, we discuss a backbone continuum concept of NDDs by summarizing pertinent findings in genetics and epigenetics. We also provide an appraisal of the genetic overlap versus differences, with a focus on genome-wide screening approaches for (epi)genetic variation. Finally, we conclude with insights from evolutionary psychobiology suggesting positive selection for discrete NDD-associated traits. En ligne : http://dx.doi.org/10.1111/jcpp.12392 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260 [article] Annual Research Review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing – unveiling the dark matter [Texte imprimé et/ou numérique] / Dominik P. KISER, Auteur ; Olga RIVERO, Auteur ; Klaus-Peter LESCH, Auteur . - p.278-295. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 56-3 (March 2015) . - p.278-295 Mots-clés : Neurodevelopmental disorders  intellectual disability  autism  ADHD  genetics  epigenetic programming  whole-genome screening  evolution Index. décimale : PER Périodiques Résumé : Background and Scope Neurodevelopmental disorders (NDDs) are defined by a wide variety of behavioural phenotypes, psychopathology and clinically informed categorical classifications. Diagnostic entities include intellectual disability (ID), the autism spectrum (ASD) and attention-deficit/hyperactivity disorder (ADHD). The aetiopathogenesis of these conditions and disorders involves an interaction between both genetic and environmental risk factors on the developmental trajectory. Despite their remarkable genetic heterogeneity and complexity of pathophysiological mechanisms, NDDs display an overlap in their phenotypic features, a considerable degree of comorbidity as well as sharing of genetic and environmental risk factors. This review aims to provide an overview of the genetics and epigenetic of NDDs. Findings Recent evidence suggests a critical role of defined and tightly regulated neurodevelopmental programs running out of control in NDDs, most notably neuronal proliferation and migration, synapse formation and remodelling, as well as neural network configuration resulting in compromised systems connectivity and function. Moreover, the machinery of epigenetic programming, interacting with genetic liability, impacts many of those processes and pathways, thus modifying vulnerability of, and resilience to, NDDs. Consequently, the categorically defined entities of ID, ADHD and ASD are increasingly viewed as disorders on a multidimensional continuum of molecular and cellular deficiencies in neurodevelopment. As such, this range of NDDs displays a broad phenotypic diversity, which may be explained by a combination and interplay of underlying loss- and potential gain-of-function traits. Conclusion In this overview, we discuss a backbone continuum concept of NDDs by summarizing pertinent findings in genetics and epigenetics. We also provide an appraisal of the genetic overlap versus differences, with a focus on genome-wide screening approaches for (epi)genetic variation. Finally, we conclude with insights from evolutionary psychobiology suggesting positive selection for discrete NDD-associated traits. En ligne : http://dx.doi.org/10.1111/jcpp.12392 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260

The AutGO Initiative: A Conceptual Framework for Developing Genetics-Outcomes Research Hypotheses / Zohreh TALEBIZADEH in Autism Research, 13-8 (August 2020)  

Public ISBD [article]  inAutism Research > 13-8 (August 2020) . - p.1286-1299 Titre : The AutGO Initiative: A Conceptual Framework for Developing Genetics-Outcomes Research Hypotheses Type de document : Texte imprimé et/ou numérique Auteurs : Zohreh TALEBIZADEH, Auteur ; Ayten SHAH, Auteur Article en page(s) : p.1286-1299 Langues : Anglais (eng) Mots-clés : autism  conceptual framework  genetics  engagement  outcomes  stakeholders  translational research Index. décimale : PER Périodiques Résumé : The increasing emphasis on translational approaches to complex neuropsychiatric and neurodevelopmental conditions research requires scientists from a broad range of disciplines to build dynamic collaborations when formulating hypotheses and framing study designs. The need to integrate the knowledge and perspectives not only from multiple scientific silos but also from the populations impacted by these conditions presents a significant challenge to researchers, particularly for a heterogeneous condition like autism. As one path toward addressing these challenges, we have previously introduced Autism Genetics Outcomes (AutGO), an initiative to support broad stakeholder partnerships and promote a new integrated concept called GO (i.e., research approaches that draw on both genetics and clinical outcomes perspectives). Herein, we developed a workflow for collecting stakeholders' feedback toward the development of a GO hypothesis. AutGO is an evolving initiative, and here we describe how its three essential components (conceptual framework, applicability, and implementation) have been developed. As a proof-of-concept, the AutGO team sought to demonstrate how a GO hypothesis could be developed using a semi-structured literature review workflow. We also developed a prototype from published reports and formulated a GO hypothesis for autism. Rather than seeking community stakeholder input after a research project is conceptualized and designed, the developed conceptual framework demonstrates the feasibility of formulating scientific hypotheses by engaging stakeholders in retrospective semi-structured literature reviews. The presented workflow, prototype, and discussed recommendations will bring awareness in the autism research community about the benefits of applying the GO approach in order to promote translational aspects in genetics research. LAY SUMMARY: We used a community-based engagement approach to develop AutGO (Autism Genetics Outcomes), an initiative to establish stakeholder partnerships and to promote research approaches (we refer to as GO) that draw on both genetics and clinical outcomes perspectives. Specifically, we developed a conceptual framework that includes a literature review process for developing GO hypotheses and stakeholder feedback collection protocol. Our work will bring awareness in the autism research community about the benefits of integrating patient perspectives in genetics research. Autism Res 2020, 13: 1286-1299. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2331 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] The AutGO Initiative: A Conceptual Framework for Developing Genetics-Outcomes Research Hypotheses [Texte imprimé et/ou numérique] / Zohreh TALEBIZADEH, Auteur ; Ayten SHAH, Auteur . - p.1286-1299. Langues : Anglais (eng) in Autism Research > 13-8 (August 2020) . - p.1286-1299 Mots-clés : autism  conceptual framework  genetics  engagement  outcomes  stakeholders  translational research Index. décimale : PER Périodiques Résumé : The increasing emphasis on translational approaches to complex neuropsychiatric and neurodevelopmental conditions research requires scientists from a broad range of disciplines to build dynamic collaborations when formulating hypotheses and framing study designs. The need to integrate the knowledge and perspectives not only from multiple scientific silos but also from the populations impacted by these conditions presents a significant challenge to researchers, particularly for a heterogeneous condition like autism. As one path toward addressing these challenges, we have previously introduced Autism Genetics Outcomes (AutGO), an initiative to support broad stakeholder partnerships and promote a new integrated concept called GO (i.e., research approaches that draw on both genetics and clinical outcomes perspectives). Herein, we developed a workflow for collecting stakeholders' feedback toward the development of a GO hypothesis. AutGO is an evolving initiative, and here we describe how its three essential components (conceptual framework, applicability, and implementation) have been developed. As a proof-of-concept, the AutGO team sought to demonstrate how a GO hypothesis could be developed using a semi-structured literature review workflow. We also developed a prototype from published reports and formulated a GO hypothesis for autism. Rather than seeking community stakeholder input after a research project is conceptualized and designed, the developed conceptual framework demonstrates the feasibility of formulating scientific hypotheses by engaging stakeholders in retrospective semi-structured literature reviews. The presented workflow, prototype, and discussed recommendations will bring awareness in the autism research community about the benefits of applying the GO approach in order to promote translational aspects in genetics research. LAY SUMMARY: We used a community-based engagement approach to develop AutGO (Autism Genetics Outcomes), an initiative to establish stakeholder partnerships and to promote research approaches (we refer to as GO) that draw on both genetics and clinical outcomes perspectives. Specifically, we developed a conceptual framework that includes a literature review process for developing GO hypotheses and stakeholder feedback collection protocol. Our work will bring awareness in the autism research community about the benefits of integrating patient perspectives in genetics research. Autism Res 2020, 13: 1286-1299. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2331 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology / R. KNOTT in Molecular Autism, 12 (2021)  

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Codevelopment of ADHD and externalizing behavior from childhood to adulthood / Ralf KUJA-HALKOLA in Journal of Child Psychology and Psychiatry, 56-6 (June 2015)  

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Commentary: Networks of peers, genes, and explanations – reflections on Szekely et al. (2016) / Thomas G. O'CONNOR in Journal of Child Psychology and Psychiatry, 57-6 (June 2016)  

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Genetic Effects on Cerebellar Structure Across Mouse Models of Autism Using a Magnetic Resonance Imaging Atlas / Patrick E. STEADMAN in Autism Research, 7-1 (February 2014)  

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Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample / Lynne E. COCHRANE in Autism Research, 3-6 (December 2010)  

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