Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder / Daniel B. CAMPBELL in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Titre : Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daniel B. CAMPBELL, Auteur ; D. DATTA, Auteur ; S. T. JONES, Auteur ; Evon BATEY LEE, Auteur ; J. S. SUTCLIFFE, Auteur ; E. A. HAMMOCK, Auteur ; P. LEVITT, Auteur Article en page(s) : p.101-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder [Texte imprimé et/ou numérique] / Daniel B. CAMPBELL, Auteur ; D. DATTA, Auteur ; S. T. JONES, Auteur ; Evon BATEY LEE, Auteur ; J. S. SUTCLIFFE, Auteur ; E. A. HAMMOCK, Auteur ; P. LEVITT, Auteur . - p.101-12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Autism Spectrum Disorders: Several Disorders on a Continuum or One? / Brian REICHOW

Public ISBD in Handbook of Early Intervention for Autism Spectrum Disorders / Jonathan TARBOX Titre : Autism Spectrum Disorders: Several Disorders on a Continuum or One? Type de document : Texte imprimé et/ou numérique Auteurs : Brian REICHOW, Auteur ; Daniel B. CAMPBELL, Auteur ; Fred R. VOLKMAR, Auteur Année de publication : 2014 Importance : p.21-38 Langues : Anglais (eng) Mots-clés : Diagnosis  Spectrum  Continuum Index. décimale : APP-D APP-D - Interventions Educatives - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 in Handbook of Early Intervention for Autism Spectrum Disorders / Jonathan TARBOX Autism Spectrum Disorders: Several Disorders on a Continuum or One? [Texte imprimé et/ou numérique] / Brian REICHOW, Auteur ; Daniel B. CAMPBELL, Auteur ; Fred R. VOLKMAR, Auteur . - 2014 . - p.21-38. Langues : Anglais (eng) Mots-clés : Diagnosis  Spectrum  Continuum Index. décimale : APP-D APP-D - Interventions Educatives - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265

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Comparing Spoken Language Treatments for Minimally Verbal Preschoolers with Autism Spectrum Disorders / Rhea PAUL in Journal of Autism and Developmental Disorders, 43-2 (February 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-2 (February 2013) . - p.418-431 Titre : Comparing Spoken Language Treatments for Minimally Verbal Preschoolers with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Rhea PAUL, Auteur ; Daniel B. CAMPBELL, Auteur ; Kimberly A. GILBERT, Auteur ; Ioanna TSIOURI, Auteur Année de publication : 2013 Article en page(s) : p.418-431 Langues : (Eng) Mots-clés : Autism  Language  Treatment  Intervention  Communication  Speech Index. décimale : PER Périodiques Résumé : Preschoolers with severe autism and minimal speech were assigned either a discrete trial or a naturalistic language treatment, and parents of all participants also received parent responsiveness training. After 12 weeks, both groups showed comparable improvement in number of spoken words produced, on average. Approximately half the children in each group achieved benchmarks for the first stage of functional spoken language development, as defined by Tager-Flusberg et al. (J Speech Lang Hear Res, 52: 643'652, 2009). Analyses of moderators of treatment suggest that joint attention moderates response to both treatments, and children with better receptive language pre-treatment do better with the naturalistic method, while those with lower receptive language show better response to the discrete trial treatment. The implications of these findings are discussed. En ligne : http://dx.doi.org/10.1007/s10803-012-1583-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=188 [article] Comparing Spoken Language Treatments for Minimally Verbal Preschoolers with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Rhea PAUL, Auteur ; Daniel B. CAMPBELL, Auteur ; Kimberly A. GILBERT, Auteur ; Ioanna TSIOURI, Auteur . - 2013 . - p.418-431. Langues : (Eng) in Journal of Autism and Developmental Disorders > 43-2 (February 2013) . - p.418-431 Mots-clés : Autism  Language  Treatment  Intervention  Communication  Speech Index. décimale : PER Périodiques Résumé : Preschoolers with severe autism and minimal speech were assigned either a discrete trial or a naturalistic language treatment, and parents of all participants also received parent responsiveness training. After 12 weeks, both groups showed comparable improvement in number of spoken words produced, on average. Approximately half the children in each group achieved benchmarks for the first stage of functional spoken language development, as defined by Tager-Flusberg et al. (J Speech Lang Hear Res, 52: 643'652, 2009). Analyses of moderators of treatment suggest that joint attention moderates response to both treatments, and children with better receptive language pre-treatment do better with the naturalistic method, while those with lower receptive language show better response to the discrete trial treatment. The implications of these findings are discussed. En ligne : http://dx.doi.org/10.1007/s10803-012-1583-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=188

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder / Daniel B. CAMPBELL in Autism Research, 1-3 (June 2008)  

Public ISBD [article]  inAutism Research > 1-3 (June 2008) . - p.159-168 Titre : Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daniel B. CAMPBELL, Auteur ; Antonio M. PERSICO, Auteur ; James S. SUTCLIFFE, Auteur ; Chun LI, Auteur ; Pat LEVITT, Auteur Année de publication : 2008 Article en page(s) : p.159-168 Langues : Anglais (eng) Mots-clés : genetic association plasminogen PLAUR uPAR SERPINE1 brain cerebral-cortex Index. décimale : PER Périodiques Résumé : A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate MET signaling, hepatocyte growth factor (HGF), urokinase plasminogen activator receptor (PLAUR) and plasminogen activator inhibitor-1 (SERPINE1). To address potential risk conferred by multiple genes in the MET signaling pathway, we screened all exons and 5 promoter regions for variants in the five genes encoding proteins that regulate MET expression and activity. Identified variants were genotyped in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls. Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). Two other genes in the MET signaling pathway also may confer risk. A haplotype of the SERPINE1 gene exhibited significant association. In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case-control analyses (P=0.007). The PLAUR promoter rs344781 relative risk was 1.93 (95% confidence interval [CI]: 1.12-3.31) for genotype TT and 2.42 (95% CI: 1.38-4.25) for genotype CT compared to genotype CC. Gene-gene interaction analyses suggested a significant interaction between MET and PLAUR. These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk. En ligne : http://dx.doi.org/10.1002/aur.27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931 [article] Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder [Texte imprimé et/ou numérique] / Daniel B. CAMPBELL, Auteur ; Antonio M. PERSICO, Auteur ; James S. SUTCLIFFE, Auteur ; Chun LI, Auteur ; Pat LEVITT, Auteur . - 2008 . - p.159-168. Langues : Anglais (eng) in Autism Research > 1-3 (June 2008) . - p.159-168 Mots-clés : genetic association plasminogen PLAUR uPAR SERPINE1 brain cerebral-cortex Index. décimale : PER Périodiques Résumé : A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate MET signaling, hepatocyte growth factor (HGF), urokinase plasminogen activator receptor (PLAUR) and plasminogen activator inhibitor-1 (SERPINE1). To address potential risk conferred by multiple genes in the MET signaling pathway, we screened all exons and 5 promoter regions for variants in the five genes encoding proteins that regulate MET expression and activity. Identified variants were genotyped in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls. Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). Two other genes in the MET signaling pathway also may confer risk. A haplotype of the SERPINE1 gene exhibited significant association. In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case-control analyses (P=0.007). The PLAUR promoter rs344781 relative risk was 1.93 (95% confidence interval [CI]: 1.12-3.31) for genotype TT and 2.42 (95% CI: 1.38-4.25) for genotype CT compared to genotype CC. Gene-gene interaction analyses suggested a significant interaction between MET and PLAUR. These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk. En ligne : http://dx.doi.org/10.1002/aur.27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931

Predicting Developmental Status from 12 to 24 Months in Infants at Risk for Autism Spectrum Disorder: A Preliminary Report / Suzanne L. MACARI in Journal of Autism and Developmental Disorders, 42-12 (December 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-12 (December 2012) . - p.2636-2647 Titre : Predicting Developmental Status from 12 to 24 Months in Infants at Risk for Autism Spectrum Disorder: A Preliminary Report Type de document : Texte imprimé et/ou numérique Auteurs : Suzanne L. MACARI, Auteur ; Daniel B. CAMPBELL, Auteur ; Grace W. GENGOUX, Auteur ; Celine A. SAULNIER, Auteur ; Ami KLIN, Auteur ; Katarzyna CHAWARSKA, Auteur Article en page(s) : p.2636-2647 Langues : Anglais (eng) Mots-clés : Autism  Infancy  High risk studies  Longitudinal studies  Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : The study examined whether performance profiles on individual items of the Toddler Module of the Autism Diagnostic Observation Schedule at 12 months are associated with developmental status at 24 months in infants at high and low risk for developing Autism Spectrum Disorder (ASD). A nonparametric decision-tree learning algorithm identified sets of 12-month predictors of developmental status at 24 months. Results suggest that identification of infants who are likely to exhibit symptoms of ASD at 24 months is complicated by variable patterns of symptom emergence. Fine-grained analyses linking specific profiles of strengths and deficits with specific patterns of symptom emergence will be necessary for further refinement of screening and diagnostic instruments for ASD in infancy. En ligne : http://dx.doi.org/10.1007/s10803-012-1521-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=184 [article] Predicting Developmental Status from 12 to 24 Months in Infants at Risk for Autism Spectrum Disorder: A Preliminary Report [Texte imprimé et/ou numérique] / Suzanne L. MACARI, Auteur ; Daniel B. CAMPBELL, Auteur ; Grace W. GENGOUX, Auteur ; Celine A. SAULNIER, Auteur ; Ami KLIN, Auteur ; Katarzyna CHAWARSKA, Auteur . - p.2636-2647. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-12 (December 2012) . - p.2636-2647 Mots-clés : Autism  Infancy  High risk studies  Longitudinal studies  Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : The study examined whether performance profiles on individual items of the Toddler Module of the Autism Diagnostic Observation Schedule at 12 months are associated with developmental status at 24 months in infants at high and low risk for developing Autism Spectrum Disorder (ASD). A nonparametric decision-tree learning algorithm identified sets of 12-month predictors of developmental status at 24 months. Results suggest that identification of infants who are likely to exhibit symptoms of ASD at 24 months is complicated by variable patterns of symptom emergence. Fine-grained analyses linking specific profiles of strengths and deficits with specific patterns of symptom emergence will be necessary for further refinement of screening and diagnostic instruments for ASD in infancy. En ligne : http://dx.doi.org/10.1007/s10803-012-1521-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=184

Schooling and variation in the COMT gene: the devil is in the details / Daniel B. CAMPBELL in Journal of Child Psychology and Psychiatry, 54-10 (October 2013)  

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Screening for Autism Spectrum Disorders in 12-Month-Old High-Risk Siblings by Parental Report / Justin ROWBERRY in Journal of Autism and Developmental Disorders, 45-1 (January 2015)  

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SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) / Brett ABRAHAMS in Molecular Autism, (October 2013)  

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The autism risk genes MET and PLAUR differentially impact cortical development / Kathie L. EAGLESON in Autism Research, 4-1 (February 2011)  

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