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Auteur Rebecca J. SCHMIDT |
Documents disponibles écrits par cet auteur (18)
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The joint effect of air pollution exposure and copy number variation on risk for autism / Dokyoon KIM in Autism Research, 10-9 (September 2017)
[article]
Titre : The joint effect of air pollution exposure and copy number variation on risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Dokyoon KIM, Auteur ; Heather E. VOLK, Auteur ; Santhosh GIRIRAJAN, Auteur ; Sarah PENDERGRASS, Auteur ; Molly A. HALL, Auteur ; Shefali S. VERMA, Auteur ; Rebecca J. SCHMIDT, Auteur ; Robin L. HANSEN, Auteur ; Debashis GHOSH, Auteur ; Yunin LUDENA-RODRIGUEZ, Auteur ; Kyoungmi KIM, Auteur ; Marylyn D. RITCHIE, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Scott B. SELLECK, Auteur Article en page(s) : p.1470-1480 Langues : Anglais (eng) Mots-clés : autism copy number variation air pollution gene-environment interaction Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a complex trait with a high degree of heritability as well as documented susceptibility from environmental factors. In this study the contributions of copy number variation, exposure to air pollutants, and the interaction between the two on autism risk, were evaluated in the population-based case-control Childhood Autism Risks from Genetics and Environment (CHARGE) Study. For the current investigation, we included only those CHARGE children (a) who met criteria for autism or typical development and (b) for whom our team had conducted both genetic evaluation of copy number burden and determination of environmental air pollution exposures based on mapping addresses from the pregnancy and early childhood. This sample consisted of 158 cases of children with autism and 147 controls with typical development. Multiple logistic regression models were fit with and without environmental variable-copy number burden interactions. We found no correlation between average air pollution exposure from conception to age 2 years and the child's CNV burden. We found a significant interaction in which a 1SD increase in duplication burden combined with a 1SD increase in ozone exposure was associated with an elevated autism risk (OR 3.4, P?0.005) much greater than the increased risks associated with either genomic duplication (OR 1.85, 95% CI 1.25–2.73) or ozone (OR 1.20, 95% CI 0.93–1.54) alone. Similar results were obtained when CNV and ozone were dichotomized to compare those in the top quartile relative to those having a smaller CNV burden and lower exposure to ozone, and when exposures were assessed separately for pregnancy, the first year of life, and the second year of life. No interactions were observed for other air pollutants, even those that demonstrated main effects; ozone tends to be negatively correlated with the other pollutants examined. While earlier work has demonstrated interactions between the presence of a pathogenic CNV and an environmental exposure [Webb et al., 2016], these findings appear to be the first indication that global copy number variation may increase susceptibility to certain environmental factors, and underscore the need to consider both genomics and environmental exposures as well as the mechanisms by which each may amplify the risks for autism associated with the other. En ligne : http://dx.doi.org/10.1002/aur.1799 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=320
in Autism Research > 10-9 (September 2017) . - p.1470-1480[article] The joint effect of air pollution exposure and copy number variation on risk for autism [Texte imprimé et/ou numérique] / Dokyoon KIM, Auteur ; Heather E. VOLK, Auteur ; Santhosh GIRIRAJAN, Auteur ; Sarah PENDERGRASS, Auteur ; Molly A. HALL, Auteur ; Shefali S. VERMA, Auteur ; Rebecca J. SCHMIDT, Auteur ; Robin L. HANSEN, Auteur ; Debashis GHOSH, Auteur ; Yunin LUDENA-RODRIGUEZ, Auteur ; Kyoungmi KIM, Auteur ; Marylyn D. RITCHIE, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Scott B. SELLECK, Auteur . - p.1470-1480.
Langues : Anglais (eng)
in Autism Research > 10-9 (September 2017) . - p.1470-1480
Mots-clés : autism copy number variation air pollution gene-environment interaction Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a complex trait with a high degree of heritability as well as documented susceptibility from environmental factors. In this study the contributions of copy number variation, exposure to air pollutants, and the interaction between the two on autism risk, were evaluated in the population-based case-control Childhood Autism Risks from Genetics and Environment (CHARGE) Study. For the current investigation, we included only those CHARGE children (a) who met criteria for autism or typical development and (b) for whom our team had conducted both genetic evaluation of copy number burden and determination of environmental air pollution exposures based on mapping addresses from the pregnancy and early childhood. This sample consisted of 158 cases of children with autism and 147 controls with typical development. Multiple logistic regression models were fit with and without environmental variable-copy number burden interactions. We found no correlation between average air pollution exposure from conception to age 2 years and the child's CNV burden. We found a significant interaction in which a 1SD increase in duplication burden combined with a 1SD increase in ozone exposure was associated with an elevated autism risk (OR 3.4, P?0.005) much greater than the increased risks associated with either genomic duplication (OR 1.85, 95% CI 1.25–2.73) or ozone (OR 1.20, 95% CI 0.93–1.54) alone. Similar results were obtained when CNV and ozone were dichotomized to compare those in the top quartile relative to those having a smaller CNV burden and lower exposure to ozone, and when exposures were assessed separately for pregnancy, the first year of life, and the second year of life. No interactions were observed for other air pollutants, even those that demonstrated main effects; ozone tends to be negatively correlated with the other pollutants examined. While earlier work has demonstrated interactions between the presence of a pathogenic CNV and an environmental exposure [Webb et al., 2016], these findings appear to be the first indication that global copy number variation may increase susceptibility to certain environmental factors, and underscore the need to consider both genomics and environmental exposures as well as the mechanisms by which each may amplify the risks for autism associated with the other. En ligne : http://dx.doi.org/10.1002/aur.1799 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=320 The reliability and validity of the social responsiveness scale to measure autism symptomology in Vietnamese children / P. H. NGUYEN in Autism Research, 12-11 (November 2019)
[article]
Titre : The reliability and validity of the social responsiveness scale to measure autism symptomology in Vietnamese children Type de document : Texte imprimé et/ou numérique Auteurs : P. H. NGUYEN, Auteur ; M. E. OCANSEY, Auteur ; M. MILLER, Auteur ; D. T. K. LE, Auteur ; Rebecca J. SCHMIDT, Auteur ; E. L. PRADO, Auteur Article en page(s) : p.1706-1718 Langues : Anglais (eng) Mots-clés : Social Responsiveness Scale Vietnam autism spectrum disorder low- and middle-income countries reliability validity Index. décimale : PER Périodiques Résumé : The Social Responsiveness Scale (SRS) has been validated in high-income countries but not yet in low- and middle-income countries. We aimed to assess the reliability of the SRS in a community sample and its validity to discriminate between children with and without autism spectrum disorder (ASD) in Vietnam. We used a three-phase study: piloting the translated SRS, reliability testing, and validation of the SRS in 158 Vietnamese caretakers and their children (ages 4-9 years). We examined reliability, validity and sensitivity, and specificity to ASD diagnosis. We applied receiver operator characteristic (ROC) analysis to determine optimal cutoff scores discriminating the children with ASD from those without ASD. We also assessed the performance of the SRS short form. We found that reliability was good with high internal consistency (0.88-0.89), test-retest reliability (0.82-0.83), sensitivity (93%), and specificity (98%) for identification of children with ASD. The ROC curves were similar for total raw score and total T-score, with the area under the curve (AUC) values reaching 0.98 and the optimal cutoff of 62 for raw scores and 60 for T-scores. The SRS short form also performed well in distinguishing children with ASD from children without ASD, with high AUC (0.98), sensitivity (90%), and specificity (98%) when using a raw score of 15 as a cutoff. In conclusion, the translated and culturally adapted SRS shows good reliability, validity, and sensitivity for identification of children with ASD in Vietnam. Both SRS long and short forms performed adequately to discriminate between children with and without ASD. Autism Res 2019, 00: 1-13. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Middle-income countries often lack validated tools to evaluate autism symptoms. The Social Responsiveness Scale (SRS) translated to Vietnamese was reliable and performed well to distinguish between children with and without autism spectrum disorder in Vietnam. The Vietnamese SRS, and translations of the tool to other languages with this methodology, may be useful in pediatric practice, potentially allowing providers to make more appropriate referrals for diagnostic evaluations and identify children for intervention to help them fulfill their developmental potential. En ligne : http://dx.doi.org/10.1002/aur.2179 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412
in Autism Research > 12-11 (November 2019) . - p.1706-1718[article] The reliability and validity of the social responsiveness scale to measure autism symptomology in Vietnamese children [Texte imprimé et/ou numérique] / P. H. NGUYEN, Auteur ; M. E. OCANSEY, Auteur ; M. MILLER, Auteur ; D. T. K. LE, Auteur ; Rebecca J. SCHMIDT, Auteur ; E. L. PRADO, Auteur . - p.1706-1718.
Langues : Anglais (eng)
in Autism Research > 12-11 (November 2019) . - p.1706-1718
Mots-clés : Social Responsiveness Scale Vietnam autism spectrum disorder low- and middle-income countries reliability validity Index. décimale : PER Périodiques Résumé : The Social Responsiveness Scale (SRS) has been validated in high-income countries but not yet in low- and middle-income countries. We aimed to assess the reliability of the SRS in a community sample and its validity to discriminate between children with and without autism spectrum disorder (ASD) in Vietnam. We used a three-phase study: piloting the translated SRS, reliability testing, and validation of the SRS in 158 Vietnamese caretakers and their children (ages 4-9 years). We examined reliability, validity and sensitivity, and specificity to ASD diagnosis. We applied receiver operator characteristic (ROC) analysis to determine optimal cutoff scores discriminating the children with ASD from those without ASD. We also assessed the performance of the SRS short form. We found that reliability was good with high internal consistency (0.88-0.89), test-retest reliability (0.82-0.83), sensitivity (93%), and specificity (98%) for identification of children with ASD. The ROC curves were similar for total raw score and total T-score, with the area under the curve (AUC) values reaching 0.98 and the optimal cutoff of 62 for raw scores and 60 for T-scores. The SRS short form also performed well in distinguishing children with ASD from children without ASD, with high AUC (0.98), sensitivity (90%), and specificity (98%) when using a raw score of 15 as a cutoff. In conclusion, the translated and culturally adapted SRS shows good reliability, validity, and sensitivity for identification of children with ASD in Vietnam. Both SRS long and short forms performed adequately to discriminate between children with and without ASD. Autism Res 2019, 00: 1-13. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Middle-income countries often lack validated tools to evaluate autism symptoms. The Social Responsiveness Scale (SRS) translated to Vietnamese was reliable and performed well to distinguish between children with and without autism spectrum disorder in Vietnam. The Vietnamese SRS, and translations of the tool to other languages with this methodology, may be useful in pediatric practice, potentially allowing providers to make more appropriate referrals for diagnostic evaluations and identify children for intervention to help them fulfill their developmental potential. En ligne : http://dx.doi.org/10.1002/aur.2179 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412 Understanding environmental contributions to autism: Causal concepts and the state of science / I. HERTZ-PICCIOTTO in Autism Research, 11-4 (April 2018)
[article]
Titre : Understanding environmental contributions to autism: Causal concepts and the state of science Type de document : Texte imprimé et/ou numérique Auteurs : I. HERTZ-PICCIOTTO, Auteur ; Rebecca J. SCHMIDT, Auteur ; P. KRAKOWIAK, Auteur Article en page(s) : p.554-586 Langues : Anglais (eng) Mots-clés : autism spectrum disorder causal inference diabetes environmental risk factors epigenetics gene-environment interaction nutrition pesticides pre- and peri-natal risk factors Index. décimale : PER Périodiques Résumé : The complexity of neurodevelopment, the rapidity of early neurogenesis, and over 100 years of research identifying environmental influences on neurodevelopment serve as backdrop to understanding factors that influence risk and severity of autism spectrum disorder (ASD). This Keynote Lecture, delivered at the May 2016 annual meeting of the International Society for Autism Research, describes concepts of causation, outlines the trajectory of research on nongenetic factors beginning in the 1960s, and briefly reviews the current state of this science. Causal concepts are introduced, including root causes; pitfalls in interpreting time trends as clues to etiologic factors; susceptible time windows for exposure; and implications of a multi-factorial model of ASD. An historical background presents early research into the origins of ASD. The epidemiologic literature from the last fifteen years is briefly but critically reviewed for potential roles of, for example, air pollution, pesticides, plastics, prenatal vitamins, lifestyle and family factors, and maternal obstetric and metabolic conditions during her pregnancy. Three examples from the case-control CHildhood Autism Risks from Genes and the Environment Study are probed to illustrate methodological approaches to central challenges in observational studies: capturing environmental exposure; causal inference when a randomized controlled clinical trial is either unethical or infeasible; and the integration of genetic, epigenetic, and environmental influences on development. We conclude with reflections on future directions, including exposomics, new technologies, the microbiome, gene-by-environment interaction in the era of -omics, and epigenetics as the interface of those two. As the environment is malleable, this research advances the goal of a productive and fulfilling life for all children, teen-agers and adults. Autism Res 2018, 11: 554-586. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This Keynote Lecture, delivered at the 2016 meeting of the International Society for Autism Research, discusses evidence from human epidemiologic studies of prenatal factors contributing to autism, such as pesticides, maternal nutrition and her health. There is no single cause for autism. Examples highlight the features of a high-quality epidemiology study, and what comprises a compelling case for causation. Emergent research directions hold promise for identifying potential interventions to reduce disabilities, enhance giftedness, and improve lives of those with ASD. En ligne : http://dx.doi.org/10.1002/aur.1938 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=358
in Autism Research > 11-4 (April 2018) . - p.554-586[article] Understanding environmental contributions to autism: Causal concepts and the state of science [Texte imprimé et/ou numérique] / I. HERTZ-PICCIOTTO, Auteur ; Rebecca J. SCHMIDT, Auteur ; P. KRAKOWIAK, Auteur . - p.554-586.
Langues : Anglais (eng)
in Autism Research > 11-4 (April 2018) . - p.554-586
Mots-clés : autism spectrum disorder causal inference diabetes environmental risk factors epigenetics gene-environment interaction nutrition pesticides pre- and peri-natal risk factors Index. décimale : PER Périodiques Résumé : The complexity of neurodevelopment, the rapidity of early neurogenesis, and over 100 years of research identifying environmental influences on neurodevelopment serve as backdrop to understanding factors that influence risk and severity of autism spectrum disorder (ASD). This Keynote Lecture, delivered at the May 2016 annual meeting of the International Society for Autism Research, describes concepts of causation, outlines the trajectory of research on nongenetic factors beginning in the 1960s, and briefly reviews the current state of this science. Causal concepts are introduced, including root causes; pitfalls in interpreting time trends as clues to etiologic factors; susceptible time windows for exposure; and implications of a multi-factorial model of ASD. An historical background presents early research into the origins of ASD. The epidemiologic literature from the last fifteen years is briefly but critically reviewed for potential roles of, for example, air pollution, pesticides, plastics, prenatal vitamins, lifestyle and family factors, and maternal obstetric and metabolic conditions during her pregnancy. Three examples from the case-control CHildhood Autism Risks from Genes and the Environment Study are probed to illustrate methodological approaches to central challenges in observational studies: capturing environmental exposure; causal inference when a randomized controlled clinical trial is either unethical or infeasible; and the integration of genetic, epigenetic, and environmental influences on development. We conclude with reflections on future directions, including exposomics, new technologies, the microbiome, gene-by-environment interaction in the era of -omics, and epigenetics as the interface of those two. As the environment is malleable, this research advances the goal of a productive and fulfilling life for all children, teen-agers and adults. Autism Res 2018, 11: 554-586. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This Keynote Lecture, delivered at the 2016 meeting of the International Society for Autism Research, discusses evidence from human epidemiologic studies of prenatal factors contributing to autism, such as pesticides, maternal nutrition and her health. There is no single cause for autism. Examples highlight the features of a high-quality epidemiology study, and what comprises a compelling case for causation. Emergent research directions hold promise for identifying potential interventions to reduce disabilities, enhance giftedness, and improve lives of those with ASD. En ligne : http://dx.doi.org/10.1002/aur.1938 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=358