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 Auteurs : Daniel B. CAMPBELL, Auteur ; Dibyadeep DATTA, Auteur ; Shaine T. JONES, Auteur ; Evon BATEY LEE, Auteur ; James S. SUTCLIFFE, Auteur ; Elizabeth A.D. HAMMOCK, Auteur ; Pat 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] / Daniel B. CAMPBELL, Auteur ; Dibyadeep DATTA, Auteur ; Shaine T. JONES, Auteur ; Evon BATEY LEE, Auteur ; James S. SUTCLIFFE, Auteur ; Elizabeth A.D. HAMMOCK, Auteur ; Pat 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 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] / 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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Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter / Amin HAGHANI in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter Type de document : texte imprimé Auteurs : Amin HAGHANI, Auteur ; Jason I. FEINBERG, Auteur ; Kristy C. LEWIS, Auteur ; Christine LADD-ACOSTA, Auteur ; Richard G. JOHNSON, Auteur ; Andrew E. JAFFE, Auteur ; Constantinos SIOUTAS, Auteur ; Caleb E. FINCH, Auteur ; Daniel B. CAMPBELL, Auteur ; Todd E. MORGAN, Auteur ; Heather E. VOLK, Auteur Langues : Anglais (eng) Mots-clés : Air Pollutants/toxicity  Air Pollution/adverse effects  Animals  Cerebral Cortex  Female  Male  Mice  Particulate Matter/toxicity  Pregnancy  Transcriptome  Blood  RNA sequencing  nPM Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal exposure to air pollutants is associated with increased risk for neurodevelopmental and neurodegenerative disorders. However, few studies have identified transcriptional changes related to air pollutant exposure. METHODS: RNA sequencing was used to examine transcriptomic changes in blood and cerebral cortex of three male and three female mouse neonates prenatally exposed to traffic-related nano-sized particulate matter (nPM) compared to three male and three female mouse neonates prenatally exposed to control filter air. RESULTS: We identified 19 nPM-associated differentially expressed genes (nPM-DEGs) in blood and 124 nPM-DEGs in cerebral cortex. The cerebral cortex transcriptional responses to nPM suggested neuroinflammation involvement, including CREB1, BDNF, and IFNγ genes. Both blood and brain tissues showed nPM transcriptional changes related to DNA damage, oxidative stress, and immune responses. Three blood nPM-DEGs showed a canonical correlation of 0.98 with 14 nPM-DEGS in the cerebral cortex, suggesting a convergence of gene expression changes in blood and cerebral cortex. Exploratory sex-stratified analyses suggested a higher number of nPM-DEGs in female cerebral cortex than male cerebral cortex. The sex-stratified analyses identified 2 nPM-DEGs (Rgl2 and Gm37534) shared between blood and cerebral cortex in a sex-dependent manner. CONCLUSIONS: Our findings suggest that prenatal nPM exposure induces transcriptional changes in the cerebral cortex, some of which are also observed in blood. Further research is needed to replicate nPM-induced transcriptional changes with additional biologically relevant time points for brain development. En ligne : https://dx.doi.org/10.1186/s11689-021-09380-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter [texte imprimé] / Amin HAGHANI, Auteur ; Jason I. FEINBERG, Auteur ; Kristy C. LEWIS, Auteur ; Christine LADD-ACOSTA, Auteur ; Richard G. JOHNSON, Auteur ; Andrew E. JAFFE, Auteur ; Constantinos SIOUTAS, Auteur ; Caleb E. FINCH, Auteur ; Daniel B. CAMPBELL, Auteur ; Todd E. MORGAN, Auteur ; Heather E. VOLK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Air Pollutants/toxicity  Air Pollution/adverse effects  Animals  Cerebral Cortex  Female  Male  Mice  Particulate Matter/toxicity  Pregnancy  Transcriptome  Blood  RNA sequencing  nPM Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal exposure to air pollutants is associated with increased risk for neurodevelopmental and neurodegenerative disorders. However, few studies have identified transcriptional changes related to air pollutant exposure. METHODS: RNA sequencing was used to examine transcriptomic changes in blood and cerebral cortex of three male and three female mouse neonates prenatally exposed to traffic-related nano-sized particulate matter (nPM) compared to three male and three female mouse neonates prenatally exposed to control filter air. RESULTS: We identified 19 nPM-associated differentially expressed genes (nPM-DEGs) in blood and 124 nPM-DEGs in cerebral cortex. The cerebral cortex transcriptional responses to nPM suggested neuroinflammation involvement, including CREB1, BDNF, and IFNγ genes. Both blood and brain tissues showed nPM transcriptional changes related to DNA damage, oxidative stress, and immune responses. Three blood nPM-DEGs showed a canonical correlation of 0.98 with 14 nPM-DEGS in the cerebral cortex, suggesting a convergence of gene expression changes in blood and cerebral cortex. Exploratory sex-stratified analyses suggested a higher number of nPM-DEGs in female cerebral cortex than male cerebral cortex. The sex-stratified analyses identified 2 nPM-DEGs (Rgl2 and Gm37534) shared between blood and cerebral cortex in a sex-dependent manner. CONCLUSIONS: Our findings suggest that prenatal nPM exposure induces transcriptional changes in the cerebral cortex, some of which are also observed in blood. Further research is needed to replicate nPM-induced transcriptional changes with additional biologically relevant time points for brain development. En ligne : https://dx.doi.org/10.1186/s11689-021-09380-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding / Daniel B. CAMPBELL in Research in Autism, 128 (October 2025)  

Public ISBD [article]  inResearch in Autism > 128 (October 2025) . - p.202715 Titre : Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding Type de document : texte imprimé Auteurs : Daniel B. CAMPBELL, Auteur ; Lucas POZZO-MILLER, Auteur ; Jeremy W. PROKOP, Auteur Article en page(s) : p.202715 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1016/j.reia.2025.202715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570 [article] Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding [texte imprimé] / Daniel B. CAMPBELL, Auteur ; Lucas POZZO-MILLER, Auteur ; Jeremy W. PROKOP, Auteur . - p.202715. Langues : Anglais (eng) in Research in Autism > 128 (October 2025) . - p.202715 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1016/j.reia.2025.202715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570

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 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] / 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)  

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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)  

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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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