141 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 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] / 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 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] / 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 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] / 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 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] / 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

Exploring community perspectives on autism genetics research: Indications of supportive views and educational needs / Melanie M. DE WIT in Autism, 30-2 (February 2026)  

Public ISBD [article]  inAutism > 30-2 (February 2026) . - p.390-401 Titre : Exploring community perspectives on autism genetics research: Indications of supportive views and educational needs Type de document : texte imprimé Auteurs : Melanie M. DE WIT, Auteur ; Janneke R. ZINKSTOK, Auteur ; Riley BUIJSMAN, Auteur ; Abdel ABDELLAOUI, Auteur ; Sander BEGEER, Auteur ; Tinca J.C. POLDERMAN, Auteur Article en page(s) : p.390-401 Langues : Anglais (eng) Mots-clés : Behavioural genetics  community perspectives  genetic testing and counselling  genetics  stakeholders Index. décimale : PER Périodiques Résumé : Autistic advocates have raised substantial concerns regarding genetics research on autism. It is yet unclear whether these concerns reflect the perspectives of the broader autism community. In a sample of 1757 Dutch autistic adults, 445 parents of autistic children and 126 legal representatives of autistic adults, we explored perspectives on genetics research. We used a pilot repeated survey, consisting of questions about the perceived importance of the heritability of autism, reasons for this importance and the desire to learn more about heritability. Over 95% of the participants found it at least a little important to know that autism is highly heritable, and 67% would like to learn more about it. Participants mentioned that they find it important to increase knowledge about the causes of autism, and to improve the diagnostic process. There were no substantial differences in perspectives between stakeholder groups. Contrasting previous work, this pilot study indicates support for genetics research in autism, which highlights diversity in community perspectives. It also identifies an unmet educational need. We conclude that education on the topic of genetics, active research involvement of the autism community, and an ongoing dialogue between all parties are crucial to ethically and meaningfully move autism genetics forward.Lay abstract Some autistic people have shared strong concerns about research on the genetics of autism. However, this has not been investigated systematically in a large and diverse group of stakeholders. Therefore, researchers asked questions to over 1700 autistic adults in the Netherlands, 445 parents of autistic children and 126 legal guardians of autistic adults. The questions were (a) ‘is it important to know that autism is heritable?’, (b) ‘why is this important to know?’ and (c) ‘would you want to learn more about the heritability of autism?’. Over 95% of the people said it is at least a little important to know that autism is heritable. Around 67% also said they would like to learn more about it. Many people said that learning about the genetics of autism could help us understand the causes of autism better and could help improve the diagnostic process. This study shows that there are different opinions about genetics research. It was also noted that people need clear and simple information about autism genetics. To make autism genetics research better and more respectful, it is important to give clear information about genetics, to involve autistic people and their families in research, and to have open conversations between researchers and the autism community. This way, autism genetics research can move forward in a way that is fair and helpful for everyone. En ligne : https://dx.doi.org/10.1177/13623613251384342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=579 [article] Exploring community perspectives on autism genetics research: Indications of supportive views and educational needs [texte imprimé] / Melanie M. DE WIT, Auteur ; Janneke R. ZINKSTOK, Auteur ; Riley BUIJSMAN, Auteur ; Abdel ABDELLAOUI, Auteur ; Sander BEGEER, Auteur ; Tinca J.C. POLDERMAN, Auteur . - p.390-401. Langues : Anglais (eng) in Autism > 30-2 (February 2026) . - p.390-401 Mots-clés : Behavioural genetics  community perspectives  genetic testing and counselling  genetics  stakeholders Index. décimale : PER Périodiques Résumé : Autistic advocates have raised substantial concerns regarding genetics research on autism. It is yet unclear whether these concerns reflect the perspectives of the broader autism community. In a sample of 1757 Dutch autistic adults, 445 parents of autistic children and 126 legal representatives of autistic adults, we explored perspectives on genetics research. We used a pilot repeated survey, consisting of questions about the perceived importance of the heritability of autism, reasons for this importance and the desire to learn more about heritability. Over 95% of the participants found it at least a little important to know that autism is highly heritable, and 67% would like to learn more about it. Participants mentioned that they find it important to increase knowledge about the causes of autism, and to improve the diagnostic process. There were no substantial differences in perspectives between stakeholder groups. Contrasting previous work, this pilot study indicates support for genetics research in autism, which highlights diversity in community perspectives. It also identifies an unmet educational need. We conclude that education on the topic of genetics, active research involvement of the autism community, and an ongoing dialogue between all parties are crucial to ethically and meaningfully move autism genetics forward.Lay abstract Some autistic people have shared strong concerns about research on the genetics of autism. However, this has not been investigated systematically in a large and diverse group of stakeholders. Therefore, researchers asked questions to over 1700 autistic adults in the Netherlands, 445 parents of autistic children and 126 legal guardians of autistic adults. The questions were (a) ‘is it important to know that autism is heritable?’, (b) ‘why is this important to know?’ and (c) ‘would you want to learn more about the heritability of autism?’. Over 95% of the people said it is at least a little important to know that autism is heritable. Around 67% also said they would like to learn more about it. Many people said that learning about the genetics of autism could help us understand the causes of autism better and could help improve the diagnostic process. This study shows that there are different opinions about genetics research. It was also noted that people need clear and simple information about autism genetics. To make autism genetics research better and more respectful, it is important to give clear information about genetics, to involve autistic people and their families in research, and to have open conversations between researchers and the autism community. This way, autism genetics research can move forward in a way that is fair and helpful for everyone. En ligne : https://dx.doi.org/10.1177/13623613251384342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=579

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

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

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An 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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Annual Research Review: Early conduct problems – precursors, outcomes, and etiology / Luke W. HYDE in Journal of Child Psychology and Psychiatry, 67-4 (April 2026)  

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Autism ableism seen through research abstract contents: A mixed-methods analysis of language in NIH-funded genetic and genomic autism research / Nicola SUGDEN in Autism, 29-11 (November 2025)  

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