3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings / Diana SCHENDEL in Autism Research, 17-10 (October 2024)  

Public ISBD [article]  inAutism Research > 17-10 (October 2024) . - p.2144-2155 Titre : 3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings Type de document : Texte imprimé et/ou numérique Auteurs : Diana SCHENDEL, Auteur ; Linda EJLSKOV, Auteur ; Morten OVERGAARD, Auteur ; Zeal JINWALA, Auteur ; Viktor KIM, Auteur ; Erik PARNER, Auteur ; Amy E. KALKBRENNER, Auteur ; Christine LADD ACOSTA, Auteur ; M. Danielle FALLIN, Auteur ; Sherlly XIE, Auteur ; Preben Bo MORTENSEN, Auteur ; Brian K. LEE, Auteur Article en page(s) : p.2144-2155 Langues : Anglais (eng) Mots-clés : allergy  asthma  autism  autoimmune  birth defect  cardiometabolic  family history  mental disorder  neurologic Index. décimale : PER Périodiques Résumé : Abstract The relatively few conditions and family member types (e.g., sibling, parent) considered in investigations of family health history in autism spectrum disorder (ASD, or autism) limits understanding of the role of family history in autism etiology. For more comprehensive understanding and hypothesis-generation, we produced an open-source catalog of autism associations with family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions. All live births in Denmark, 1980?2012, of Denmark-born parents (1,697,231 births), and their 3-generation family members were followed through April 10, 2017 for each of 90 diagnoses (including autism), emigration or death. Adjusted hazard ratios (aHR) were estimated via Cox regression for each diagnosis-family member type combination, adjusting for birth year, sex, birth weight, gestational age, parental ages at birth, and number of family member types of index person; aHRs also calculated for sex-specific co-occurrence of each disorder. We obtained 6462 individual family history aHRS across autism overall (26,840 autistic persons; 1.6% of births), by sex, and considering intellectual disability (ID); and 350 individual co-occurrence aHRS. Results are cataloged in interactive heat maps and down-loadable data files: https://ncrr-au.shinyapps.io/asd-riskatlas/ and interactive graphic summaries: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5. While primarily for reference material or use in other studies (e.g., meta-analyses), results revealed considerable breadth and variation in magnitude of familial health history associations with autism by type of condition, family member type, sex of the family member, side of the family, sex of the index person, and ID status, indicative of diverse genetic, familial, and nongenetic autism etiologic pathways. Careful attention to sources of autism likelihood in family health history, aided by our open data resource, may accelerate understanding of factors underlying neurodiversity. En ligne : https://doi.org/10.1002/aur.3232 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536 [article] 3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings [Texte imprimé et/ou numérique] / Diana SCHENDEL, Auteur ; Linda EJLSKOV, Auteur ; Morten OVERGAARD, Auteur ; Zeal JINWALA, Auteur ; Viktor KIM, Auteur ; Erik PARNER, Auteur ; Amy E. KALKBRENNER, Auteur ; Christine LADD ACOSTA, Auteur ; M. Danielle FALLIN, Auteur ; Sherlly XIE, Auteur ; Preben Bo MORTENSEN, Auteur ; Brian K. LEE, Auteur . - p.2144-2155. Langues : Anglais (eng) in Autism Research > 17-10 (October 2024) . - p.2144-2155 Mots-clés : allergy  asthma  autism  autoimmune  birth defect  cardiometabolic  family history  mental disorder  neurologic Index. décimale : PER Périodiques Résumé : Abstract The relatively few conditions and family member types (e.g., sibling, parent) considered in investigations of family health history in autism spectrum disorder (ASD, or autism) limits understanding of the role of family history in autism etiology. For more comprehensive understanding and hypothesis-generation, we produced an open-source catalog of autism associations with family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions. All live births in Denmark, 1980?2012, of Denmark-born parents (1,697,231 births), and their 3-generation family members were followed through April 10, 2017 for each of 90 diagnoses (including autism), emigration or death. Adjusted hazard ratios (aHR) were estimated via Cox regression for each diagnosis-family member type combination, adjusting for birth year, sex, birth weight, gestational age, parental ages at birth, and number of family member types of index person; aHRs also calculated for sex-specific co-occurrence of each disorder. We obtained 6462 individual family history aHRS across autism overall (26,840 autistic persons; 1.6% of births), by sex, and considering intellectual disability (ID); and 350 individual co-occurrence aHRS. Results are cataloged in interactive heat maps and down-loadable data files: https://ncrr-au.shinyapps.io/asd-riskatlas/ and interactive graphic summaries: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5. While primarily for reference material or use in other studies (e.g., meta-analyses), results revealed considerable breadth and variation in magnitude of familial health history associations with autism by type of condition, family member type, sex of the family member, side of the family, sex of the index person, and ID status, indicative of diverse genetic, familial, and nongenetic autism etiologic pathways. Careful attention to sources of autism likelihood in family health history, aided by our open data resource, may accelerate understanding of factors underlying neurodiversity. En ligne : https://doi.org/10.1002/aur.3232 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536

Applying a public health approach to autism research: A framework for action / Diana SCHENDEL in Autism Research, 15-4 (April 2022)  

Public ISBD [article]  inAutism Research > 15-4 (April 2022) . - p.592-601 Titre : Applying a public health approach to autism research: A framework for action Type de document : Texte imprimé et/ou numérique Auteurs : Diana SCHENDEL, Auteur ; Anne M. ROUX, Auteur ; Elizabeth MCGHEE HASSRICK, Auteur ; Kristen LYALL, Auteur ; Lindsay SHEA, Auteur ; Giacomo VIVANTI, Auteur ; Andrea WIECKOWSKI TRUBANOVA, Auteur ; Craig NEWSCHAFFER, Auteur ; Diana L. ROBINS, Auteur Article en page(s) : p.592-601 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder/diagnosis  Humans  Public Health  Quality of Life  autism spectrum disorder  communication  knowledge Index. décimale : PER Périodiques Résumé : Most published autism research, and the funding that supports it, remains focused on basic and clinical science. However, the public health impact of autism drives a compelling argument for utilizing a public health approach to autism research. Fundamental to the public health perspective is a focus on health determinants to improve quality of life and to reduce the potential for adverse outcomes across the general population, including in vulnerable subgroups. While the public health research process can be conceptualized as a linear, 3-stage path consisting of discovery - testing - translation/dissemination/implementation, in this paper we propose an integrated, cyclical research framework to advance autism public health objectives in a more comprehensive manner. This involves discovery of primary, secondary and tertiary determinants of health in autism; and use of this evidence base to develop and test detection, intervention, and dissemination strategies and the means to implement them in 'real world' settings. The proposed framework serves to facilitate identification of knowledge gaps, translational barriers, and shortfalls in implementation; guides an iterative research cycle; facilitates purposeful integration of stakeholders and interdisciplinary researchers; and may yield more efficient achievement of improved health and well-being among persons on the autism spectrum at the population-level. LAY SUMMARY: Scientists need better ways to identify and address gaps in autism research, conduct research with stakeholders, and use findings to improve the lives of autistic people. We recommend an approach, based in public health science, to guide research in ways that might impact lives more quickly. En ligne : https://dx.doi.org/10.1002/aur.2689 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Applying a public health approach to autism research: A framework for action [Texte imprimé et/ou numérique] / Diana SCHENDEL, Auteur ; Anne M. ROUX, Auteur ; Elizabeth MCGHEE HASSRICK, Auteur ; Kristen LYALL, Auteur ; Lindsay SHEA, Auteur ; Giacomo VIVANTI, Auteur ; Andrea WIECKOWSKI TRUBANOVA, Auteur ; Craig NEWSCHAFFER, Auteur ; Diana L. ROBINS, Auteur . - p.592-601. Langues : Anglais (eng) in Autism Research > 15-4 (April 2022) . - p.592-601 Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder/diagnosis  Humans  Public Health  Quality of Life  autism spectrum disorder  communication  knowledge Index. décimale : PER Périodiques Résumé : Most published autism research, and the funding that supports it, remains focused on basic and clinical science. However, the public health impact of autism drives a compelling argument for utilizing a public health approach to autism research. Fundamental to the public health perspective is a focus on health determinants to improve quality of life and to reduce the potential for adverse outcomes across the general population, including in vulnerable subgroups. While the public health research process can be conceptualized as a linear, 3-stage path consisting of discovery - testing - translation/dissemination/implementation, in this paper we propose an integrated, cyclical research framework to advance autism public health objectives in a more comprehensive manner. This involves discovery of primary, secondary and tertiary determinants of health in autism; and use of this evidence base to develop and test detection, intervention, and dissemination strategies and the means to implement them in 'real world' settings. The proposed framework serves to facilitate identification of knowledge gaps, translational barriers, and shortfalls in implementation; guides an iterative research cycle; facilitates purposeful integration of stakeholders and interdisciplinary researchers; and may yield more efficient achievement of improved health and well-being among persons on the autism spectrum at the population-level. LAY SUMMARY: Scientists need better ways to identify and address gaps in autism research, conduct research with stakeholders, and use findings to improve the lives of autistic people. We recommend an approach, based in public health science, to guide research in ways that might impact lives more quickly. En ligne : https://dx.doi.org/10.1002/aur.2689 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

Autism and the right to education in the EU: policy mapping and scoping review of Nordic countries Denmark, Finland, and Sweden / R. VAN KESSEL in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 44 p. Titre : Autism and the right to education in the EU: policy mapping and scoping review of Nordic countries Denmark, Finland, and Sweden Type de document : Texte imprimé et/ou numérique Auteurs : R. VAN KESSEL, Auteur ; S. WALSH, Auteur ; A. N. V. RUIGROK, Auteur ; R. HOLT, Auteur ; A. YLIHERVA, Auteur ; E. KARNA, Auteur ; I. MOILANEN, Auteur ; E. HJORNE, Auteur ; S. T. JOHANSSON, Auteur ; Diana SCHENDEL, Auteur ; L. PEDERSEN, Auteur ; M. JORGENSEN, Auteur ; Carol BRAYNE, Auteur ; Simon BARON-COHEN, Auteur ; A. ROMAN-URRESTARAZU, Auteur Article en page(s) : 44 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Introduction: The universal right to education for people with disabilities has been highlighted by the Universal Declaration on Human Rights and the Convention on the Rights of Persons with Disabilities. In this paper, we mapped policies addressing the right to education and special education needs of autistic children in Denmark, Sweden, and Finland. Methods: A policy path analysis was carried out using a scoping review as an underlying framework for data gathering. Policy mapping was performed independently by both lead authors to increase reliability. Results and discussion: The values of the Universal Declaration of Human Rights and the Convention on the Rights of Persons with Disabilities have been closely translated into the respective education systems of the countries under study, offering special education needs services and support in mainstream education with the aim of including as many children into mainstream education as possible. Even though the education systems are comparable, the approaches between the countries under study are slightly different. Denmark and Sweden have passed several policies specifically geared towards special education needs, while Finland incorporates this more in general education policy. Conclusion: All countries under study have incorporated the values of the Universal Declaration of Human Rights and the Convention on the Rights of Persons with Disabilities in their respective education systems while emphasising the need to include as many children in the mainstream system as possible. En ligne : http://dx.doi.org/10.1186/s13229-019-0290-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Autism and the right to education in the EU: policy mapping and scoping review of Nordic countries Denmark, Finland, and Sweden [Texte imprimé et/ou numérique] / R. VAN KESSEL, Auteur ; S. WALSH, Auteur ; A. N. V. RUIGROK, Auteur ; R. HOLT, Auteur ; A. YLIHERVA, Auteur ; E. KARNA, Auteur ; I. MOILANEN, Auteur ; E. HJORNE, Auteur ; S. T. JOHANSSON, Auteur ; Diana SCHENDEL, Auteur ; L. PEDERSEN, Auteur ; M. JORGENSEN, Auteur ; Carol BRAYNE, Auteur ; Simon BARON-COHEN, Auteur ; A. ROMAN-URRESTARAZU, Auteur . - 44 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 44 p. Index. décimale : PER Périodiques Résumé : Introduction: The universal right to education for people with disabilities has been highlighted by the Universal Declaration on Human Rights and the Convention on the Rights of Persons with Disabilities. In this paper, we mapped policies addressing the right to education and special education needs of autistic children in Denmark, Sweden, and Finland. Methods: A policy path analysis was carried out using a scoping review as an underlying framework for data gathering. Policy mapping was performed independently by both lead authors to increase reliability. Results and discussion: The values of the Universal Declaration of Human Rights and the Convention on the Rights of Persons with Disabilities have been closely translated into the respective education systems of the countries under study, offering special education needs services and support in mainstream education with the aim of including as many children into mainstream education as possible. Even though the education systems are comparable, the approaches between the countries under study are slightly different. Denmark and Sweden have passed several policies specifically geared towards special education needs, while Finland incorporates this more in general education policy. Conclusion: All countries under study have incorporated the values of the Universal Declaration of Human Rights and the Convention on the Rights of Persons with Disabilities in their respective education systems while emphasising the need to include as many children in the mainstream system as possible. En ligne : http://dx.doi.org/10.1186/s13229-019-0290-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Autism Spectrum Disorder Symptoms Among Children Enrolled in the Study to Explore Early Development (SEED) / Lisa D. WIGGINS in Journal of Autism and Developmental Disorders, 45-10 (October 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3183-3194 Titre : Autism Spectrum Disorder Symptoms Among Children Enrolled in the Study to Explore Early Development (SEED) Type de document : Texte imprimé et/ou numérique Auteurs : Lisa D. WIGGINS, Auteur ; Susan E. LEVY, Auteur ; Julie L. DANIELS, Auteur ; Laura A. SCHIEVE, Auteur ; Lisa A. CROEN, Auteur ; Carolyn G. DIGUISEPPI, Auteur ; Lisa BLASKEY, Auteur ; Ellen GIARELLI, Auteur ; Li-Ching LEE, Auteur ; Jennifer PINTO-MARTIN, Auteur ; Ann REYNOLDS, Auteur ; Catherine RICE, Auteur ; Cordelia ROBINSON ROSENBERG, Auteur ; Patrick THOMPSON, Auteur ; Marshalyn YEARGIN-ALLSOPP, Auteur ; Lisa YOUNG, Auteur ; Diana SCHENDEL, Auteur Article en page(s) : p.3183-3194 Langues : Anglais (eng) Mots-clés : Autism  Etiology  Symptoms  Phenotype  Study to Explore Early Development Index. décimale : PER Périodiques Résumé : This study examined the phenotypic profiles of children aged 30–68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive, behavioral, and social functioning and the presence of parent-reported conditions. Children with ASD and DD with ASD symptoms had mild to severe ASD risk on several measures compared to children with other DD and POP who had little ASD risk across measures. We conclude that children in SEED have varying degrees of ASD impairment and associated deficits. SEED thus provides a valuable sample to explore ASD phenotypes and inform risk factor analyses. En ligne : http://dx.doi.org/10.1007/s10803-015-2476-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=267 [article] Autism Spectrum Disorder Symptoms Among Children Enrolled in the Study to Explore Early Development (SEED) [Texte imprimé et/ou numérique] / Lisa D. WIGGINS, Auteur ; Susan E. LEVY, Auteur ; Julie L. DANIELS, Auteur ; Laura A. SCHIEVE, Auteur ; Lisa A. CROEN, Auteur ; Carolyn G. DIGUISEPPI, Auteur ; Lisa BLASKEY, Auteur ; Ellen GIARELLI, Auteur ; Li-Ching LEE, Auteur ; Jennifer PINTO-MARTIN, Auteur ; Ann REYNOLDS, Auteur ; Catherine RICE, Auteur ; Cordelia ROBINSON ROSENBERG, Auteur ; Patrick THOMPSON, Auteur ; Marshalyn YEARGIN-ALLSOPP, Auteur ; Lisa YOUNG, Auteur ; Diana SCHENDEL, Auteur . - p.3183-3194. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3183-3194 Mots-clés : Autism  Etiology  Symptoms  Phenotype  Study to Explore Early Development Index. décimale : PER Périodiques Résumé : This study examined the phenotypic profiles of children aged 30–68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive, behavioral, and social functioning and the presence of parent-reported conditions. Children with ASD and DD with ASD symptoms had mild to severe ASD risk on several measures compared to children with other DD and POP who had little ASD risk across measures. We conclude that children in SEED have varying degrees of ASD impairment and associated deficits. SEED thus provides a valuable sample to explore ASD phenotypes and inform risk factor analyses. En ligne : http://dx.doi.org/10.1007/s10803-015-2476-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=267

Case-control meta-analysis of blood DNA methylation and autism spectrum disorder / S. V. ANDREWS in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 40p. Titre : Case-control meta-analysis of blood DNA methylation and autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. V. ANDREWS, Auteur ; B. SHEPPARD, Auteur ; G. C. WINDHAM, Auteur ; Laura A. SCHIEVE, Auteur ; Diana SCHENDEL, Auteur ; Lisa A. CROEN, Auteur ; P. CHOPRA, Auteur ; R. S. ALISCH, Auteur ; C. J. NEWSCHAFFER, Auteur ; S. T. WARREN, Auteur ; A. P. FEINBERG, Auteur ; M. D. FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur Article en page(s) : 40p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child, Preschool  CpG Islands  DNA Methylation  Epigenesis, Genetic  Female  Genome-Wide Association Study  Humans  Male  Autism spectrum disorders  Epigenome  Peripheral blood  Simons Simplex Collection  Study to Explore Early Development Index. décimale : PER Périodiques Résumé : Background: Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies. Methods: DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of biological variation and technical confounding such as cell type, batch, and ancestry. We compared top EWAS results to those from a previous brain-based analysis. We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample. Findings: In this meta-analysis of blood-based DNA from 796 cases and 858 controls, no single CpG met a Bonferroni discovery threshold of p < 1.12 x 10(- 7). Seven CpGs showed differences at p < 1 x 10(- 5) and 48 at 1 x 10(- 4). Of the top 7, 5 showed brain-based ASD associations as well, often with larger effect sizes, and the top 48 overall showed modest concordance (r = 0.31) in direction of effect with cerebellum samples. Finally, we observed suggestive evidence for enrichment of CpG sites controlled by SNPs (meQTL targets) among the EWAS CpG hits, which was consistent across EWAS and meQTL discovery p value thresholds. Conclusions: No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. However, our results suggest the potential to observe disease associations from blood-based samples. Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0224-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Case-control meta-analysis of blood DNA methylation and autism spectrum disorder [Texte imprimé et/ou numérique] / S. V. ANDREWS, Auteur ; B. SHEPPARD, Auteur ; G. C. WINDHAM, Auteur ; Laura A. SCHIEVE, Auteur ; Diana SCHENDEL, Auteur ; Lisa A. CROEN, Auteur ; P. CHOPRA, Auteur ; R. S. ALISCH, Auteur ; C. J. NEWSCHAFFER, Auteur ; S. T. WARREN, Auteur ; A. P. FEINBERG, Auteur ; M. D. FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur . - 40p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 40p. Mots-clés : Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child, Preschool  CpG Islands  DNA Methylation  Epigenesis, Genetic  Female  Genome-Wide Association Study  Humans  Male  Autism spectrum disorders  Epigenome  Peripheral blood  Simons Simplex Collection  Study to Explore Early Development Index. décimale : PER Périodiques Résumé : Background: Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies. Methods: DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of biological variation and technical confounding such as cell type, batch, and ancestry. We compared top EWAS results to those from a previous brain-based analysis. We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample. Findings: In this meta-analysis of blood-based DNA from 796 cases and 858 controls, no single CpG met a Bonferroni discovery threshold of p < 1.12 x 10(- 7). Seven CpGs showed differences at p < 1 x 10(- 5) and 48 at 1 x 10(- 4). Of the top 7, 5 showed brain-based ASD associations as well, often with larger effect sizes, and the top 48 overall showed modest concordance (r = 0.31) in direction of effect with cerebellum samples. Finally, we observed suggestive evidence for enrichment of CpG sites controlled by SNPs (meQTL targets) among the EWAS CpG hits, which was consistent across EWAS and meQTL discovery p value thresholds. Conclusions: No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. However, our results suggest the potential to observe disease associations from blood-based samples. Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0224-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives / Álvaro BEJARANO-MARTÍN in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

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A Descriptive Study on the Neonatal Morbidity Profile of Autism Spectrum Disorders, Including a Comparison with Other Neurodevelopmental Disorders / Hjördis Osk ATLADOTTIR in Journal of Autism and Developmental Disorders, 45-8 (August 2015)  

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Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study / Quentin GUILLON in Autism, 26-8 (November 2022)  

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Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives / Álvaro BEJARANO-MARTÍN in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

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Une enquête comparative des services d’accueil des adultes ayant un Trouble du Spectre de l’Autisme au sein de 14 pays européens / Diana SCHENDEL in Bulletin Scientifique de l'arapi (Le), 40 (Hiver 2017)

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Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism / Diana SCHENDEL in Autism Research, 15-1 (January 2022)  

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Evaluation of a Records-Review Surveillance System Used to Determine the Prevalence of Autism Spectrum Disorders / Rachel NONKIN AVCHEN in Journal of Autism and Developmental Disorders, 41-2 (February 2011)  

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Factors Associated with a Delayed Autism Spectrum Disorder Diagnosis in Children Previously Assessed on Suspicion of Autism / Sara Højslev AVLUND in Journal of Autism and Developmental Disorders, 51-11 (November 2021)  

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Familial confounding of the association between maternal smoking in pregnancy and autism spectrum disorder in offspring / Amy E. KALKBRENNER in Autism Research, 13-1 (January 2020)  

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Family history of immune conditions and autism spectrum and developmental disorders: Findings from the study to explore early development / Lisa A. CROEN in Autism Research, 12-1 (January 2019)  

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