Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
7 recherche sur le mot-clé 'Neuropsychiatric disorders'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders / J. HU in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : J. HU, Auteur ; J. LIAO, Auteur ; M. SATHANOORI, Auteur ; S. KOCHMAR, Auteur ; J. SEBASTIAN, Auteur ; S. A. YATSENKO, Auteur ; U. SURTI, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : 3p26.3 CNV Array CGH Cntn6 CNTNs Microdeletion Microduplication Neurodevelopmental disorders Neuropsychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been reported in only a handful of patients with copy number variations involving CNTNs. METHODS: From January 2009 to January 2013, 3724 patients ascertained through the University of Pittsburgh Medical Center were referred to our laboratory for clinical array comparative genomic hybridization testing. We screened this cohort of patients to identify individuals with the 3p26.3 copy number variations involving the CNTN6 gene, and then retrospectively reviewed the clinical information and family history of these patients to determine the association between the 3p26.3 copy number variations and neurodevelopmental disorders. RESULTS: Fourteen of the 3724 patients had 3p26.3 copy number variations involving the CNTN6 gene. Thirteen of the 14 patients with these CNTN6 copy number variations presented with various neurodevelopmental disorders including developmental delay, autistic spectrum disorders, seizures and attention deficit hyperactivity disorder. Family history was available for 13 of the 14 patients. Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including attention deficit hyperactivity disorder, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder. CONCLUSIONS: Our findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders. En ligne : http://dx.doi.org/10.1186/s11689-015-9122-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.26[article] CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders [Texte imprimé et/ou numérique] / J. HU, Auteur ; J. LIAO, Auteur ; M. SATHANOORI, Auteur ; S. KOCHMAR, Auteur ; J. SEBASTIAN, Auteur ; S. A. YATSENKO, Auteur ; U. SURTI, Auteur . - p.26.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.26
Mots-clés : 3p26.3 CNV Array CGH Cntn6 CNTNs Microdeletion Microduplication Neurodevelopmental disorders Neuropsychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been reported in only a handful of patients with copy number variations involving CNTNs. METHODS: From January 2009 to January 2013, 3724 patients ascertained through the University of Pittsburgh Medical Center were referred to our laboratory for clinical array comparative genomic hybridization testing. We screened this cohort of patients to identify individuals with the 3p26.3 copy number variations involving the CNTN6 gene, and then retrospectively reviewed the clinical information and family history of these patients to determine the association between the 3p26.3 copy number variations and neurodevelopmental disorders. RESULTS: Fourteen of the 3724 patients had 3p26.3 copy number variations involving the CNTN6 gene. Thirteen of the 14 patients with these CNTN6 copy number variations presented with various neurodevelopmental disorders including developmental delay, autistic spectrum disorders, seizures and attention deficit hyperactivity disorder. Family history was available for 13 of the 14 patients. Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including attention deficit hyperactivity disorder, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder. CONCLUSIONS: Our findings suggest that deletion or duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders. En ligne : http://dx.doi.org/10.1186/s11689-015-9122-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders / Lu XIA in Autism Research, 13-3 (March 2020)
[article]
Titre : Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : Lu XIA, Auteur ; Jianjun OU, Auteur ; Kuokuo LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Ting BAI, Auteur ; Jingping ZHAO, Auteur ; Kun XIA, Auteur ; Fengyu ZHANG, Auteur Article en page(s) : p.382-396 Langues : Anglais (eng) Mots-clés : autism genome-wide association study neuropsychiatric disorders transmission disequilibrium test Index. décimale : PER Périodiques Résumé : Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders. En ligne : http://dx.doi.org/10.1002/aur.2229 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421
in Autism Research > 13-3 (March 2020) . - p.382-396[article] Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders [Texte imprimé et/ou numérique] / Lu XIA, Auteur ; Jianjun OU, Auteur ; Kuokuo LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Ting BAI, Auteur ; Jingping ZHAO, Auteur ; Kun XIA, Auteur ; Fengyu ZHANG, Auteur . - p.382-396.
Langues : Anglais (eng)
in Autism Research > 13-3 (March 2020) . - p.382-396
Mots-clés : autism genome-wide association study neuropsychiatric disorders transmission disequilibrium test Index. décimale : PER Périodiques Résumé : Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders. En ligne : http://dx.doi.org/10.1002/aur.2229 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders - promises and limitations / Yihong ZHAO in Journal of Child Psychology and Psychiatry, 57-3 (March 2016)
[article]
Titre : Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders - promises and limitations Type de document : Texte imprimé et/ou numérique Auteurs : Yihong ZHAO, Auteur ; Francisco Xavier CASTELLANOS, Auteur Article en page(s) : p.421-439 Langues : Anglais (eng) Mots-clés : Neuropsychiatric disorders psychopathology genetics brain image endophenotype Big Data classification inference Index. décimale : PER Périodiques Résumé : Background Psychiatric science remains descriptive, with a categorical nosology intended to enhance interobserver reliability. Increased awareness of the mismatch between categorical classifications and the complexity of biological systems drives the search for novel frameworks including discovery science in Big Data. In this review, we provide an overview of incipient approaches, primarily focused on classically categorical diagnoses such as schizophrenia (SZ), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD), but also reference convincing, if focal, advances in cancer biology, to describe the challenges of Big Data and discovery science, and outline approaches being formulated to overcome existing obstacles. Findings A paradigm shift from categorical diagnoses to a domain/structure-based nosology and from linear causal chains to complex causal network models of brain–behavior relationship is ongoing. This (r)evolution involves appreciating the complexity, dimensionality, and heterogeneity of neuropsychiatric data collected from multiple sources (‘broad’ data) along with data obtained at multiple levels of analysis, ranging from genes to molecules, cells, circuits, and behaviors (‘deep’ data). Both of these types of Big Data landscapes require the use and development of robust and powerful informatics and statistical approaches. Thus, we describe Big Data analysis pipelines and the promise and potential limitations in using Big Data approaches to study psychiatric disorders. Conclusions We highlight key resources available for psychopathological studies and call for the application and development of Big Data approaches to dissect the causes and mechanisms of neuropsychiatric disorders and identify corresponding biomarkers for early diagnosis. En ligne : http://dx.doi.org/10.1111/jcpp.12503 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Journal of Child Psychology and Psychiatry > 57-3 (March 2016) . - p.421-439[article] Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders - promises and limitations [Texte imprimé et/ou numérique] / Yihong ZHAO, Auteur ; Francisco Xavier CASTELLANOS, Auteur . - p.421-439.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 57-3 (March 2016) . - p.421-439
Mots-clés : Neuropsychiatric disorders psychopathology genetics brain image endophenotype Big Data classification inference Index. décimale : PER Périodiques Résumé : Background Psychiatric science remains descriptive, with a categorical nosology intended to enhance interobserver reliability. Increased awareness of the mismatch between categorical classifications and the complexity of biological systems drives the search for novel frameworks including discovery science in Big Data. In this review, we provide an overview of incipient approaches, primarily focused on classically categorical diagnoses such as schizophrenia (SZ), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD), but also reference convincing, if focal, advances in cancer biology, to describe the challenges of Big Data and discovery science, and outline approaches being formulated to overcome existing obstacles. Findings A paradigm shift from categorical diagnoses to a domain/structure-based nosology and from linear causal chains to complex causal network models of brain–behavior relationship is ongoing. This (r)evolution involves appreciating the complexity, dimensionality, and heterogeneity of neuropsychiatric data collected from multiple sources (‘broad’ data) along with data obtained at multiple levels of analysis, ranging from genes to molecules, cells, circuits, and behaviors (‘deep’ data). Both of these types of Big Data landscapes require the use and development of robust and powerful informatics and statistical approaches. Thus, we describe Big Data analysis pipelines and the promise and potential limitations in using Big Data approaches to study psychiatric disorders. Conclusions We highlight key resources available for psychopathological studies and call for the application and development of Big Data approaches to dissect the causes and mechanisms of neuropsychiatric disorders and identify corresponding biomarkers for early diagnosis. En ligne : http://dx.doi.org/10.1111/jcpp.12503 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 Childhood neurodevelopmental disorders and risk of coercive sexual victimization in childhood and adolescence – a population-based prospective twin study / Vide OHLSSON GOTBY in Journal of Child Psychology and Psychiatry, 59-9 (September 2018)
[article]
Titre : Childhood neurodevelopmental disorders and risk of coercive sexual victimization in childhood and adolescence – a population-based prospective twin study Type de document : Texte imprimé et/ou numérique Auteurs : Vide OHLSSON GOTBY, Auteur ; Paul LICHTENSTEIN, Auteur ; Niklas LANGSTROM, Auteur ; Erik PETTERSSON, Auteur Article en page(s) : p.957-965 Langues : Anglais (eng) Mots-clés : Attention-deficit/Hyperactivity disorder autism spectrum disorder neuropsychiatric disorders sexual abuse twins Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD), Attention-deficit/Hyperactivity disorder (ADHD), and other related neurodevelopmental disorders (NDDs) have, in some previous studies, been shown to increase the risk of being sexually victimized. However, no studies have examined whether the association is driven by a general NDD phenotype versus specific diagnoses, nor the etiology of the association. Method Using a genetically informative, prospective design, we examined the association between ASD and ADHD in childhood and coercive sexual victimization up to age 18. A total of 4,500 children participating in the Child and Adolescent Twin Study in Sweden (CATSS) were rated by their parents on NDDs at age 9 or 12 years, and self-reported at age 18 on lifetime experiences of coercive sexual touching and/or coercive sex. First, we regressed sexual victimization on the NDDs. Second, we regressed sexual victimization on general and specific NDD symptoms identified via a bifactor model. Third, we decomposed the observed associations into genetic and environmental parts. Results In females, ASD was associated with an almost threefolded increased risk of coercive sexual victimization, and ADHD with a doubled risk. In males, the risk associated with ASD and ADHD was of the same magnitude but not significant. When controlling for overall NDD symptom load ASD or ADHD, no longer uniquely predicted coercive sexual victimization. The association between the NDD general factor and coercive sexual victimization was due to shared genetics. Conclusions General NDD symptom load, rather than specific ASD or ADHD symptoms, seems to be a moderate vulnerability factor for coercive sexual victimization. We speculate that an evocative gene?environment correlation might account for this observation, such that sexual perpetrators actively target NDD individuals. En ligne : https://doi.org/10.1111/jcpp.12884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368
in Journal of Child Psychology and Psychiatry > 59-9 (September 2018) . - p.957-965[article] Childhood neurodevelopmental disorders and risk of coercive sexual victimization in childhood and adolescence – a population-based prospective twin study [Texte imprimé et/ou numérique] / Vide OHLSSON GOTBY, Auteur ; Paul LICHTENSTEIN, Auteur ; Niklas LANGSTROM, Auteur ; Erik PETTERSSON, Auteur . - p.957-965.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 59-9 (September 2018) . - p.957-965
Mots-clés : Attention-deficit/Hyperactivity disorder autism spectrum disorder neuropsychiatric disorders sexual abuse twins Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD), Attention-deficit/Hyperactivity disorder (ADHD), and other related neurodevelopmental disorders (NDDs) have, in some previous studies, been shown to increase the risk of being sexually victimized. However, no studies have examined whether the association is driven by a general NDD phenotype versus specific diagnoses, nor the etiology of the association. Method Using a genetically informative, prospective design, we examined the association between ASD and ADHD in childhood and coercive sexual victimization up to age 18. A total of 4,500 children participating in the Child and Adolescent Twin Study in Sweden (CATSS) were rated by their parents on NDDs at age 9 or 12 years, and self-reported at age 18 on lifetime experiences of coercive sexual touching and/or coercive sex. First, we regressed sexual victimization on the NDDs. Second, we regressed sexual victimization on general and specific NDD symptoms identified via a bifactor model. Third, we decomposed the observed associations into genetic and environmental parts. Results In females, ASD was associated with an almost threefolded increased risk of coercive sexual victimization, and ADHD with a doubled risk. In males, the risk associated with ASD and ADHD was of the same magnitude but not significant. When controlling for overall NDD symptom load ASD or ADHD, no longer uniquely predicted coercive sexual victimization. The association between the NDD general factor and coercive sexual victimization was due to shared genetics. Conclusions General NDD symptom load, rather than specific ASD or ADHD symptoms, seems to be a moderate vulnerability factor for coercive sexual victimization. We speculate that an evocative gene?environment correlation might account for this observation, such that sexual perpetrators actively target NDD individuals. En ligne : https://doi.org/10.1111/jcpp.12884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 Research Review: Functional brain connectivity and child psychopathology – overview and methodological considerations for investigators new to the field / Marguerite MATTHEWS in Journal of Child Psychology and Psychiatry, 56-4 (April 2015)
[article]
Titre : Research Review: Functional brain connectivity and child psychopathology – overview and methodological considerations for investigators new to the field Type de document : Texte imprimé et/ou numérique Auteurs : Marguerite MATTHEWS, Auteur ; Damien A. FAIR, Auteur Article en page(s) : p.400-414 Langues : Anglais (eng) Mots-clés : fMRI functional connectivity machine learning neuropsychiatric disorders resting-state networks child psychopathology Index. décimale : PER Périodiques Résumé : Background Functional connectivity MRI is an emerging technique that can be used to investigate typical and atypical brain function in developing and aging populations. Despite some of the current confounds in the field of functional connectivity MRI, the translational potential of the technique available to investigators may eventually be used to improve diagnosis, early disease detection, and therapy monitoring. Method and Scope Based on a comprehensive survey of the literature, this review offers an introduction of resting-state functional connectivity for new investigators to the field of resting-state functional connectivity. We discuss a brief history of the technique, various methods of analysis, the relationship of functional networks to behavior, as well as the translational potential of functional connectivity MRI to investigate neuropsychiatric disorders. We also address some considerations and limitations with data analysis and interpretation. Conclusions The information provided in this review should serve as a foundation for investigators new to the field of resting-state functional connectivity. The discussion provides a means to better understand functional connectivity and its application to typical and atypical brain function. En ligne : http://dx.doi.org/10.1111/jcpp.12335 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260
in Journal of Child Psychology and Psychiatry > 56-4 (April 2015) . - p.400-414[article] Research Review: Functional brain connectivity and child psychopathology – overview and methodological considerations for investigators new to the field [Texte imprimé et/ou numérique] / Marguerite MATTHEWS, Auteur ; Damien A. FAIR, Auteur . - p.400-414.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 56-4 (April 2015) . - p.400-414
Mots-clés : fMRI functional connectivity machine learning neuropsychiatric disorders resting-state networks child psychopathology Index. décimale : PER Périodiques Résumé : Background Functional connectivity MRI is an emerging technique that can be used to investigate typical and atypical brain function in developing and aging populations. Despite some of the current confounds in the field of functional connectivity MRI, the translational potential of the technique available to investigators may eventually be used to improve diagnosis, early disease detection, and therapy monitoring. Method and Scope Based on a comprehensive survey of the literature, this review offers an introduction of resting-state functional connectivity for new investigators to the field of resting-state functional connectivity. We discuss a brief history of the technique, various methods of analysis, the relationship of functional networks to behavior, as well as the translational potential of functional connectivity MRI to investigate neuropsychiatric disorders. We also address some considerations and limitations with data analysis and interpretation. Conclusions The information provided in this review should serve as a foundation for investigators new to the field of resting-state functional connectivity. The discussion provides a means to better understand functional connectivity and its application to typical and atypical brain function. En ligne : http://dx.doi.org/10.1111/jcpp.12335 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260 Commentary: Developmental connectomics to advance our understanding of typical and atypical brain development – a commentary on Vértes and Bullmore () / Alice M. GRAHAM in Journal of Child Psychology and Psychiatry, 56-3 (March 2015)
PermalinkParental age and autism severity in the Rhode Island Consortium for Autism Research and Treatment (RI-CART) study / B. C. KAVANAUGH in Autism Research, 15-1 (January 2022)
Permalink