An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits / Ellen M. HOWERTON in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits Type de document : texte imprimé Auteurs : Ellen M. HOWERTON, Auteur ; Valerie MORRILL, Auteur ; Rose SCHROTT, Auteur ; Jason DANIELS, Auteur ; Ashley Y. SONG, Auteur ; Kelly BENKE, Auteur ; Heather VOLK, Auteur ; Homayoon FARZADEGAN, Auteur ; Aimee ANIDO ALEXANDER, Auteur ; Amanda L. TAPIA, Auteur ; Gabriel S. DICHTER, Auteur ; Lisa A. CROEN, Auteur ; Lisa WIGGINS, Auteur ; Genevieve WOJCIK, Auteur ; M. Daniele FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur Langues : Anglais (eng) Mots-clés : Humans  DNA Methylation/genetics  Male  Female  Case-Control Studies  Genome-Wide Association Study  Autism Spectrum Disorder/genetics  Child, Preschool  DNA-Binding Proteins/genetics  Transcription Factors/genetics  Epigenome  Quantitative Trait Loci  Repressor Proteins  Autism  DNA methylation  Quantitative trait  Social Responsiveness Scale  by the institutional review boards (IRBs) at each SEED site. SEED 1 recruitment  was approved by the IRB of each recruitment site: IRB-C, CDC Human Research  Protection Office  Kaiser Foundation Research Institute (KFRI) Kaiser Permanente  Northern California IRB, Colorado Multiple IRB, Emory University IRB, Georgia  Department of Public Health IRB, Maryland Department of Health and Mental Hygiene  IRB, Johns Hopkins Bloomberg School of Public Health IRB, University of North  Carolina IRB and Office of Human Research Ethics, IRB of The Children’s Hospital  of Philadelphia, and IRB of the University of Pennsylvania. All enrolled families  provided written consent for participation. Consent for publication: Not  applicable. Competing interests: CLA reports receiving consulting fees from the  University of Iowa for providing expertise on epigenetics outside of this work.  All other authors declare that they have no conflict of interest. The findings  and conclusions in this report are those of the authors and do not necessarily  represent the official position of the Centers for Disease Control and  Prevention. Index. décimale : PER Périodiques Résumé : BACKGROUND: Quantitative measures of autism spectrum disorder (ASD)-related traits can provide insight into trait presentation across the population. Previous studies have identified epigenomic variation associated with ASD diagnosis, but few have evaluated quantitative traits. We sought to identify DNA methylation patterns in child blood associated with Social Responsiveness Scale score, Second Edition (SRS). METHODS: We conducted an epigenome-wide association study of SRS in child blood at approximately age 5 in the Study to Explore Early Development, a case-control study of ASD in the United States. We measured DNA methylation using the Illumina 450K array with 857 samples in our analysis after quality control. We performed regression of the M-value to identify single sites or differentially methylated regions (DMRs) associated with SRS scores, adjusting for sources of biological and technical variation. We examined methylation quantitative trait loci and conducted gene-ontology-term pathway analyses for regions of interest. RESULTS: We identified a region about 3.5 kb upstream of ZFP57 on chromosome 6 as differentially methylated (family-wise error rate [fwer] < 0.1) by continuous SRS T-score in the full sample (N = 857; fwer = 0.074) and among ASD cases only (N = 390; fwer = 0.021). ZFP57 encodes a transcription factor involved in imprinting regulation and maintenance, and this DMR has been previously associated with ASD in brain and buccal samples. CONCLUSIONS: Blood DNA methylation near ZFP57 was associated (fwer < 0.1) with SRS in the full population sample and appears to be largely driven by trait heterogeneity within the autism case group. Our results indicate DNA methylation associations with ASD quantitative traits are observable in a population and provide insights into specific biologic changes related to autism trait heterogeneity. En ligne : https://dx.doi.org/10.1186/s11689-025-09637-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits [texte imprimé] / Ellen M. HOWERTON, Auteur ; Valerie MORRILL, Auteur ; Rose SCHROTT, Auteur ; Jason DANIELS, Auteur ; Ashley Y. SONG, Auteur ; Kelly BENKE, Auteur ; Heather VOLK, Auteur ; Homayoon FARZADEGAN, Auteur ; Aimee ANIDO ALEXANDER, Auteur ; Amanda L. TAPIA, Auteur ; Gabriel S. DICHTER, Auteur ; Lisa A. CROEN, Auteur ; Lisa WIGGINS, Auteur ; Genevieve WOJCIK, Auteur ; M. Daniele FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  DNA Methylation/genetics  Male  Female  Case-Control Studies  Genome-Wide Association Study  Autism Spectrum Disorder/genetics  Child, Preschool  DNA-Binding Proteins/genetics  Transcription Factors/genetics  Epigenome  Quantitative Trait Loci  Repressor Proteins  Autism  DNA methylation  Quantitative trait  Social Responsiveness Scale  by the institutional review boards (IRBs) at each SEED site. SEED 1 recruitment  was approved by the IRB of each recruitment site: IRB-C, CDC Human Research  Protection Office  Kaiser Foundation Research Institute (KFRI) Kaiser Permanente  Northern California IRB, Colorado Multiple IRB, Emory University IRB, Georgia  Department of Public Health IRB, Maryland Department of Health and Mental Hygiene  IRB, Johns Hopkins Bloomberg School of Public Health IRB, University of North  Carolina IRB and Office of Human Research Ethics, IRB of The Children’s Hospital  of Philadelphia, and IRB of the University of Pennsylvania. All enrolled families  provided written consent for participation. Consent for publication: Not  applicable. Competing interests: CLA reports receiving consulting fees from the  University of Iowa for providing expertise on epigenetics outside of this work.  All other authors declare that they have no conflict of interest. The findings  and conclusions in this report are those of the authors and do not necessarily  represent the official position of the Centers for Disease Control and  Prevention. Index. décimale : PER Périodiques Résumé : BACKGROUND: Quantitative measures of autism spectrum disorder (ASD)-related traits can provide insight into trait presentation across the population. Previous studies have identified epigenomic variation associated with ASD diagnosis, but few have evaluated quantitative traits. We sought to identify DNA methylation patterns in child blood associated with Social Responsiveness Scale score, Second Edition (SRS). METHODS: We conducted an epigenome-wide association study of SRS in child blood at approximately age 5 in the Study to Explore Early Development, a case-control study of ASD in the United States. We measured DNA methylation using the Illumina 450K array with 857 samples in our analysis after quality control. We performed regression of the M-value to identify single sites or differentially methylated regions (DMRs) associated with SRS scores, adjusting for sources of biological and technical variation. We examined methylation quantitative trait loci and conducted gene-ontology-term pathway analyses for regions of interest. RESULTS: We identified a region about 3.5 kb upstream of ZFP57 on chromosome 6 as differentially methylated (family-wise error rate [fwer] < 0.1) by continuous SRS T-score in the full sample (N = 857; fwer = 0.074) and among ASD cases only (N = 390; fwer = 0.021). ZFP57 encodes a transcription factor involved in imprinting regulation and maintenance, and this DMR has been previously associated with ASD in brain and buccal samples. CONCLUSIONS: Blood DNA methylation near ZFP57 was associated (fwer < 0.1) with SRS in the full population sample and appears to be largely driven by trait heterogeneity within the autism case group. Our results indicate DNA methylation associations with ASD quantitative traits are observable in a population and provide insights into specific biologic changes related to autism trait heterogeneity. En ligne : https://dx.doi.org/10.1186/s11689-025-09637-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

A Distinct Three-Factor Structure of Restricted and Repetitive Behaviors in an Epidemiologically Sound Sample of Preschool-Age Children with Autism Spectrum Disorder / Laura HIRUMA in Journal of Autism and Developmental Disorders, 51-10 (October 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3456-3468 Titre : A Distinct Three-Factor Structure of Restricted and Repetitive Behaviors in an Epidemiologically Sound Sample of Preschool-Age Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Laura HIRUMA, Auteur ; Rebecca EDMONDSON PRETZEL, Auteur ; Amanda L. TAPIA, Auteur ; James W. BODFISH, Auteur ; Catherine BRADLEY, Auteur ; Lisa D. WIGGINS, Auteur ; Melanie HSU, Auteur ; Li-Ching LEE, Auteur ; Susan E. LEVY, Auteur ; Jena DANIELS, Auteur Article en page(s) : p.3456-3468 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology  Autistic Disorder  Child  Child, Preschool  Cognition  Factor Analysis, Statistical  Humans  Stereotyped Behavior  Autism spectrum disorder (ASD)  Exploratory factor analysis  Preschool children  Restricted and repetitive behaviors (RRB) Index. décimale : PER Périodiques Résumé : Prior studies investigating restricted and repetitive behavior (RRB) subtypes within autism spectrum disorder (ASD) have found varied factor structures for symptom groupings, in part, due to variation in symptom measurement and broad sample age ranges. This study examined RRBs among 827 preschool-age children, ages 35 to 71 months, through an exploratory factor analysis of RRB items from the Autism Diagnostic Interview-Revised (ADI-R) collected through the Study to Explore Early Development. The factor structures of RRBs among children with confirmed ASD versus those with non-autism developmental concerns were qualitatively compared. Correlations between RRB factors and participant characteristics were examined in the ASD group. Three conceptually well-defined factors characterized as repetitive sensorimotor behaviors (RSMB), insistence on sameness (IS), and a novel stereotyped speech (SPEECH) factor emerged for the ASD group only. Distinct factors were supported by different clinical correlates. Findings have implications for improving differential diagnosis and understanding of ASD symptomatology in this age range. En ligne : http://dx.doi.org/10.1007/s10803-020-04776-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] A Distinct Three-Factor Structure of Restricted and Repetitive Behaviors in an Epidemiologically Sound Sample of Preschool-Age Children with Autism Spectrum Disorder [texte imprimé] / Laura HIRUMA, Auteur ; Rebecca EDMONDSON PRETZEL, Auteur ; Amanda L. TAPIA, Auteur ; James W. BODFISH, Auteur ; Catherine BRADLEY, Auteur ; Lisa D. WIGGINS, Auteur ; Melanie HSU, Auteur ; Li-Ching LEE, Auteur ; Susan E. LEVY, Auteur ; Jena DANIELS, Auteur . - p.3456-3468. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3456-3468 Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology  Autistic Disorder  Child  Child, Preschool  Cognition  Factor Analysis, Statistical  Humans  Stereotyped Behavior  Autism spectrum disorder (ASD)  Exploratory factor analysis  Preschool children  Restricted and repetitive behaviors (RRB) Index. décimale : PER Périodiques Résumé : Prior studies investigating restricted and repetitive behavior (RRB) subtypes within autism spectrum disorder (ASD) have found varied factor structures for symptom groupings, in part, due to variation in symptom measurement and broad sample age ranges. This study examined RRBs among 827 preschool-age children, ages 35 to 71 months, through an exploratory factor analysis of RRB items from the Autism Diagnostic Interview-Revised (ADI-R) collected through the Study to Explore Early Development. The factor structures of RRBs among children with confirmed ASD versus those with non-autism developmental concerns were qualitatively compared. Correlations between RRB factors and participant characteristics were examined in the ASD group. Three conceptually well-defined factors characterized as repetitive sensorimotor behaviors (RSMB), insistence on sameness (IS), and a novel stereotyped speech (SPEECH) factor emerged for the ASD group only. Distinct factors were supported by different clinical correlates. Findings have implications for improving differential diagnosis and understanding of ASD symptomatology in this age range. En ligne : http://dx.doi.org/10.1007/s10803-020-04776-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Expressive Dominant Versus Receptive Dominant Language Patterns in Young Children: Findings from the Study to Explore Early Development / D.B. REINHARTSEN in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2447-2460 Titre : Expressive Dominant Versus Receptive Dominant Language Patterns in Young Children: Findings from the Study to Explore Early Development Type de document : texte imprimé Auteurs : D.B. REINHARTSEN, Auteur ; Amanda L. TAPIA, Auteur ; Linda R. WATSON, Auteur ; Elizabeth R. CRAIS, Auteur ; Catherine BRADLEY, Auteur ; J. FAIRCHILD, Auteur ; Amy H. HERRING, Auteur ; Jena DANIELS, Auteur Article en page(s) : p.2447-2460 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Expressive language  Mullen Scales of Early Learning  Receptive language Index. décimale : PER Périodiques Résumé : We examined language profiles of 2571 children, 30-68 months old, with autism spectrum disorder (ASD), other developmental disabilities (DD), and typical development from the general population (POP). Children were categorized as expressive dominant (ED), receptive dominant (RD), or nondominant (ND). Within each group, the ED profile was the least frequent. However, children in the ASD group were more likely to display an ED profile than those in the DD or POP groups, and these children were typically younger, had lower nonverbal cognitive skills, and displayed more severe social-affect symptoms of ASD compared to their peers with RD or ND profiles. These findings have research and clinical implications related to the focus of interventions targeting young children with ASD and other DDs. En ligne : https://dx.doi.org/10.1007/s10803-019-03999-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] Expressive Dominant Versus Receptive Dominant Language Patterns in Young Children: Findings from the Study to Explore Early Development [texte imprimé] / D.B. REINHARTSEN, Auteur ; Amanda L. TAPIA, Auteur ; Linda R. WATSON, Auteur ; Elizabeth R. CRAIS, Auteur ; Catherine BRADLEY, Auteur ; J. FAIRCHILD, Auteur ; Amy H. HERRING, Auteur ; Jena DANIELS, Auteur . - p.2447-2460. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2447-2460 Mots-clés : Autism spectrum disorder  Expressive language  Mullen Scales of Early Learning  Receptive language Index. décimale : PER Périodiques Résumé : We examined language profiles of 2571 children, 30-68 months old, with autism spectrum disorder (ASD), other developmental disabilities (DD), and typical development from the general population (POP). Children were categorized as expressive dominant (ED), receptive dominant (RD), or nondominant (ND). Within each group, the ED profile was the least frequent. However, children in the ASD group were more likely to display an ED profile than those in the DD or POP groups, and these children were typically younger, had lower nonverbal cognitive skills, and displayed more severe social-affect symptoms of ASD compared to their peers with RD or ND profiles. These findings have research and clinical implications related to the focus of interventions targeting young children with ASD and other DDs. En ligne : https://dx.doi.org/10.1007/s10803-019-03999-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

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