Linking behaviour, brain, and genes in two different genetic syndromes / Ursula BELLUGI

Public ISBD in Neurodevelopmental Disorders: Cognitive/Behavioural Phenotypes / Daria RIVA Titre : Linking behaviour, brain, and genes in two different genetic syndromes Type de document : Texte imprimé et/ou numérique Auteurs : Ursula BELLUGI, Auteur ; Edward S. KLIMA, Auteur ; Julie R. KORENBERG, Auteur Année de publication : 2005 Importance : p.39-58 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 in Neurodevelopmental Disorders: Cognitive/Behavioural Phenotypes / Daria RIVA Linking behaviour, brain, and genes in two different genetic syndromes [Texte imprimé et/ou numérique] / Ursula BELLUGI, Auteur ; Edward S. KLIMA, Auteur ; Julie R. KORENBERG, Auteur . - 2005 . - p.39-58. Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161

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Linking prenatal maternal adversity to developmental outcomes in infants: The role of epigenetic pathways / Catherine MONK in Development and Psychopathology, 24-4 (November 2012)  

Public ISBD [article]  inDevelopment and Psychopathology > 24-4 (November 2012) . - p.1361-1376 Titre : Linking prenatal maternal adversity to developmental outcomes in infants: The role of epigenetic pathways Type de document : Texte imprimé et/ou numérique Auteurs : Catherine MONK, Auteur ; Julie A. SPICER, Auteur ; Frances A. CHAMPAGNE, Auteur Année de publication : 2012 Article en page(s) : p.1361-1376 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Prenatal exposure to maternal stress, anxiety, and depression can have lasting effects on infant development with risk of psychopathology. Although the impact of prenatal maternal distress has been well documented, the potential mechanisms through which maternal psychosocial variables shape development have yet to be fully elucidated. Advances in molecular biology have highlighted the role of epigenetic mechanisms in regulating gene activity, neurobiology, and behavior and the potential role of environmentally induced epigenetic variation in linking early life exposures to long-term biobehavioral outcomes. In this article, we discuss evidence illustrating the association between maternal prenatal distress and both fetal and infant developmental trajectories and the potential role of epigenetic mechanisms in mediating these effects. Postnatal experiences may have a critical moderating influence on prenatal effects, and we review findings illustrating prenatal–postnatal interplay and the developmental and epigenetic consequences of postnatal mother–infant interactions. The in utero environment is regulated by placental function and there is emerging evidence that the placenta is highly susceptible to maternal distress and a target of epigenetic dysregulation. Integrating studies of prenatal exposures, placental function, and postnatal maternal care with the exploration of epigenetic mechanisms may provide novel insights into the pathophysiology induced by maternal distress. En ligne : http://dx.doi.org/10.1017/S0954579412000764 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 [article] Linking prenatal maternal adversity to developmental outcomes in infants: The role of epigenetic pathways [Texte imprimé et/ou numérique] / Catherine MONK, Auteur ; Julie A. SPICER, Auteur ; Frances A. CHAMPAGNE, Auteur . - 2012 . - p.1361-1376. Langues : Anglais (eng) in Development and Psychopathology > 24-4 (November 2012) . - p.1361-1376 Index. décimale : PER Périodiques Résumé : Prenatal exposure to maternal stress, anxiety, and depression can have lasting effects on infant development with risk of psychopathology. Although the impact of prenatal maternal distress has been well documented, the potential mechanisms through which maternal psychosocial variables shape development have yet to be fully elucidated. Advances in molecular biology have highlighted the role of epigenetic mechanisms in regulating gene activity, neurobiology, and behavior and the potential role of environmentally induced epigenetic variation in linking early life exposures to long-term biobehavioral outcomes. In this article, we discuss evidence illustrating the association between maternal prenatal distress and both fetal and infant developmental trajectories and the potential role of epigenetic mechanisms in mediating these effects. Postnatal experiences may have a critical moderating influence on prenatal effects, and we review findings illustrating prenatal–postnatal interplay and the developmental and epigenetic consequences of postnatal mother–infant interactions. The in utero environment is regulated by placental function and there is emerging evidence that the placenta is highly susceptible to maternal distress and a target of epigenetic dysregulation. Integrating studies of prenatal exposures, placental function, and postnatal maternal care with the exploration of epigenetic mechanisms may provide novel insights into the pathophysiology induced by maternal distress. En ligne : http://dx.doi.org/10.1017/S0954579412000764 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci / Lea K. DAVIS in Molecular Autism, (May 2012)  

Public ISBD [article]  inMolecular Autism > (May 2012) . - 25 p. Titre : Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci Type de document : Texte imprimé et/ou numérique Auteurs : Lea K. DAVIS, Auteur ; Eric R. GAMAZON, Auteur ; Emily KISTNER-GRIFFIN, Auteur ; Judith A. BADNER, Auteur ; Chunyu LIU, Auteur ; Edwin H. Jr COOK, Auteur ; James S. SUTCLIFFE, Auteur ; Nancy J. COX, Auteur Année de publication : 2012 Article en page(s) : 25 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum. Methods In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study. Results Our findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism. Conclusions These findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies. En ligne : http://dx.doi.org/10.1186/2040-2392-3-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci [Texte imprimé et/ou numérique] / Lea K. DAVIS, Auteur ; Eric R. GAMAZON, Auteur ; Emily KISTNER-GRIFFIN, Auteur ; Judith A. BADNER, Auteur ; Chunyu LIU, Auteur ; Edwin H. Jr COOK, Auteur ; James S. SUTCLIFFE, Auteur ; Nancy J. COX, Auteur . - 2012 . - 25 p. Langues : Anglais (eng) in Molecular Autism > (May 2012) . - 25 p. Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum. Methods In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study. Results Our findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism. Conclusions These findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies. En ligne : http://dx.doi.org/10.1186/2040-2392-3-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

LPHN3 and attention-deficit/hyperactivity disorder: interaction with maternal stress during pregnancy / Zia CHOUDHRY in Journal of Child Psychology and Psychiatry, 53-8 (August 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.892-902 Titre : LPHN3 and attention-deficit/hyperactivity disorder: interaction with maternal stress during pregnancy Type de document : Texte imprimé et/ou numérique Auteurs : Zia CHOUDHRY, Auteur ; Sarojini M. SENGUPTA, Auteur ; Natalie GRIZENKO, Auteur ; Marie-Eve FORTIER, Auteur ; Geeta A. THAKUR, Auteur ; Johanne BELLINGHAM, Auteur ; Ridha JOOBER, Auteur Année de publication : 2012 Article en page(s) : p.892-902 Langues : Anglais (eng) Mots-clés : ADHD  LPHN3  maternal stress  environmental factors  GXE  genetic association Index. décimale : PER Périodiques Résumé : Background:  Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous behavioral disorder, complex both in etiology and clinical expression. Both genetic and environmental factors have been implicated, and it has been suggested that gene-environment interactions may play a pivotal role in the disorder. Recently, a significant association was reported between ADHD and LPHN3 (which codes for latrophilin 3), and replicated in independent samples. Methods:  We have examined the association between tag single nucleotide polymorphisms (SNPs) in LPHN3 within the region previously implicated in ADHD. Family based association tests (FBAT) were conducted (n = 380 families) with the categorical diagnosis of ADHD, behavioral and cognitive phenotypes related to ADHD, and response to treatment (given a fixed dose of methylphenidate, 0.5 mg/day). Stratified FBAT analyses, based on maternal smoking and stress during pregnancy, was conducted. Results:  Whereas limited association was observed in the total sample, highly significant interaction between four LPHN3 tag SNPs (rs6551665, rs1947274, rs6858066, rs2345039) and maternal stress during pregnancy was noted. Analysis conducted in the sub-group of mothers exposed to minimal stress during pregnancy showed significant associations with ADHD, behavioral and cognitive dimensions related to ADHD, as well as treatment response. Although extensive association was observed with the candidate SNPs, the findings are partially inconsistent with previously published results with the opposite alleles over-transmitted in these studies. Conclusions:  These results provide evidence for the interaction between a genetic and environmental factor independently shown to be associated with ADHD. If confirmed in independent large studies, they may present a step forward in unraveling the complex etiology of ADHD. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02551.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177 [article] LPHN3 and attention-deficit/hyperactivity disorder: interaction with maternal stress during pregnancy [Texte imprimé et/ou numérique] / Zia CHOUDHRY, Auteur ; Sarojini M. SENGUPTA, Auteur ; Natalie GRIZENKO, Auteur ; Marie-Eve FORTIER, Auteur ; Geeta A. THAKUR, Auteur ; Johanne BELLINGHAM, Auteur ; Ridha JOOBER, Auteur . - 2012 . - p.892-902. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-8 (August 2012) . - p.892-902 Mots-clés : ADHD  LPHN3  maternal stress  environmental factors  GXE  genetic association Index. décimale : PER Périodiques Résumé : Background:  Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous behavioral disorder, complex both in etiology and clinical expression. Both genetic and environmental factors have been implicated, and it has been suggested that gene-environment interactions may play a pivotal role in the disorder. Recently, a significant association was reported between ADHD and LPHN3 (which codes for latrophilin 3), and replicated in independent samples. Methods:  We have examined the association between tag single nucleotide polymorphisms (SNPs) in LPHN3 within the region previously implicated in ADHD. Family based association tests (FBAT) were conducted (n = 380 families) with the categorical diagnosis of ADHD, behavioral and cognitive phenotypes related to ADHD, and response to treatment (given a fixed dose of methylphenidate, 0.5 mg/day). Stratified FBAT analyses, based on maternal smoking and stress during pregnancy, was conducted. Results:  Whereas limited association was observed in the total sample, highly significant interaction between four LPHN3 tag SNPs (rs6551665, rs1947274, rs6858066, rs2345039) and maternal stress during pregnancy was noted. Analysis conducted in the sub-group of mothers exposed to minimal stress during pregnancy showed significant associations with ADHD, behavioral and cognitive dimensions related to ADHD, as well as treatment response. Although extensive association was observed with the candidate SNPs, the findings are partially inconsistent with previously published results with the opposite alleles over-transmitted in these studies. Conclusions:  These results provide evidence for the interaction between a genetic and environmental factor independently shown to be associated with ADHD. If confirmed in independent large studies, they may present a step forward in unraveling the complex etiology of ADHD. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02551.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177

Male Gender Bias in Autism and Pediatric Autoimmunity / Kevin G. BECKER in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.77-83 Titre : Male Gender Bias in Autism and Pediatric Autoimmunity Type de document : Texte imprimé et/ou numérique Auteurs : Kevin G. BECKER, Auteur Année de publication : 2012 Article en page(s) : p.77-83 Langues : Anglais (eng) Mots-clés : autoimmune  immunology  molecular genetics  pediatrics  developmental neurobiology Index. décimale : PER Périodiques Résumé : Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. En ligne : http://dx.doi.org/10.1002/aur.1227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Male Gender Bias in Autism and Pediatric Autoimmunity [Texte imprimé et/ou numérique] / Kevin G. BECKER, Auteur . - 2012 . - p.77-83. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.77-83 Mots-clés : autoimmune  immunology  molecular genetics  pediatrics  developmental neurobiology Index. décimale : PER Périodiques Résumé : Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. En ligne : http://dx.doi.org/10.1002/aur.1227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

Médecine et santé de l'adolescent / Priscille GERARDIN

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Medical Issues / Fred R. VOLKMAR

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Medical needs of the autistic adolescent / Joanna S. DALLDORF

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Mendel, le chromosome X et le garçon autiste / Claude MORAINE

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Méthodologies génétiques et protéines synaptiques dans l’autisme infantile / Stéphane JAMAIN

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Neurobiological implications of sex differences in autism / Catherine LORD

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Neurobiologie du développement du système nerveux central et autisme / Christian ANDRES

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Neurobiology and Genetics of Autism: A Developmental Perspective / Kathleen KOENIG

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Neurobiology, diagnosis and treatment in autism / Daria RIVA

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Neurobiology meets genomic science: The promise of human-induced pluripotent stem cells / Hanna E. STEVENS in Development and Psychopathology, 24-4 (November 2012)  

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