A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California
Abstract Background The Early Markers for Autism (EMA) study is a population-based case–control study designed to learn more about early biologic processes involved in ASD. Methods Participants were drawn from Southern California births from 2000 to 2003 with archived prenatal and neonatal screening...
Main Authors: | , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2021-03-01
|
Series: | Molecular Autism |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13229-021-00429-7 |
id |
doaj-f11d85e56974497aa64f89b713de1da3 |
---|---|
record_format |
Article |
spelling |
doaj-f11d85e56974497aa64f89b713de1da32021-03-21T12:23:31ZengBMCMolecular Autism2040-23922021-03-0112112310.1186/s13229-021-00429-7A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in CaliforniaKristen Lyall0Jennifer L. Ames1Michelle Pearl2Michela Traglia3Lauren A. Weiss4Gayle C. Windham5Martin Kharrazi6Cathleen K. Yoshida7Robert Yolken8Heather E. Volk9Paul Ashwood10Judy Van de Water11Lisa A. Croen12A.J. Drexel Autism Institute, Drexel UniversityDivision of Research, Kaiser Permanente Northern CaliforniaEnvironmental Health Investigations Branch, California Department of Public HealthUniversity of CaliforniaUniversity of CaliforniaEnvironmental Health Investigations Branch, California Department of Public HealthEnvironmental Health Investigations Branch, California Department of Public HealthDivision of Research, Kaiser Permanente Northern CaliforniaSchool of Medicine, Johns Hopkins UniversityDepartment of Mental Health, Johns Hopkins UniversityUC Davis MIND Institute, University of California, DavisUC Davis MIND Institute, University of California, DavisDivision of Research, Kaiser Permanente Northern CaliforniaAbstract Background The Early Markers for Autism (EMA) study is a population-based case–control study designed to learn more about early biologic processes involved in ASD. Methods Participants were drawn from Southern California births from 2000 to 2003 with archived prenatal and neonatal screening specimens. Across two phases, children with ASD (n = 629) and intellectual disability without ASD (ID, n = 230) were ascertained from the California Department of Developmental Services (DDS), with diagnoses confirmed according to DSM-IV-TR criteria based on expert clinical review of abstracted records. General population controls (GP, n = 599) were randomly sampled from birth certificate files and matched to ASD cases by sex, birth month and year after excluding individuals with DDS records. EMA has published over 20 papers examining immune markers, endogenous hormones, environmental chemicals, and genetic factors in association with ASD and ID. This review summarizes the results across these studies, as well as the EMA study design and future directions. Results EMA enabled several key contributions to the literature, including the examination of biomarker levels in biospecimens prospectively collected during critical windows of neurodevelopment. Key findings from EMA include demonstration of elevated cytokine and chemokine levels in maternal mid-pregnancy serum samples in association with ASD, as well as aberrations in other immune marker levels; suggestions of increased odds of ASD with prenatal exposure to certain endocrine disrupting chemicals, though not in mixture analyses; and demonstration of maternal and fetal genetic influence on prenatal chemical, and maternal and neonatal immune marker and vitamin D levels. We also observed an overall lack of association with ASD and measured maternal and neonatal vitamin D, mercury, and brain-derived neurotrophic factor (BDNF) levels. Limitations Covariate and outcome data were limited to information in Vital Statistics and DDS records. As a study based in Southern California, generalizability for certain environmental exposures may be reduced. Conclusions Results across EMA studies support the importance of the prenatal and neonatal periods in ASD etiology, and provide evidence for the role of the maternal immune response during pregnancy. Future directions for EMA, and the field of ASD in general, include interrogation of mechanistic pathways and examination of combined effects of exposures.https://doi.org/10.1186/s13229-021-00429-7AutismRisk factorsImmune responseEarly Markers for Autism |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kristen Lyall Jennifer L. Ames Michelle Pearl Michela Traglia Lauren A. Weiss Gayle C. Windham Martin Kharrazi Cathleen K. Yoshida Robert Yolken Heather E. Volk Paul Ashwood Judy Van de Water Lisa A. Croen |
spellingShingle |
Kristen Lyall Jennifer L. Ames Michelle Pearl Michela Traglia Lauren A. Weiss Gayle C. Windham Martin Kharrazi Cathleen K. Yoshida Robert Yolken Heather E. Volk Paul Ashwood Judy Van de Water Lisa A. Croen A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California Molecular Autism Autism Risk factors Immune response Early Markers for Autism |
author_facet |
Kristen Lyall Jennifer L. Ames Michelle Pearl Michela Traglia Lauren A. Weiss Gayle C. Windham Martin Kharrazi Cathleen K. Yoshida Robert Yolken Heather E. Volk Paul Ashwood Judy Van de Water Lisa A. Croen |
author_sort |
Kristen Lyall |
title |
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California |
title_short |
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California |
title_full |
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California |
title_fullStr |
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California |
title_full_unstemmed |
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case–control study in California |
title_sort |
profile and review of findings from the early markers for autism study: unique contributions from a population-based case–control study in california |
publisher |
BMC |
series |
Molecular Autism |
issn |
2040-2392 |
publishDate |
2021-03-01 |
description |
Abstract Background The Early Markers for Autism (EMA) study is a population-based case–control study designed to learn more about early biologic processes involved in ASD. Methods Participants were drawn from Southern California births from 2000 to 2003 with archived prenatal and neonatal screening specimens. Across two phases, children with ASD (n = 629) and intellectual disability without ASD (ID, n = 230) were ascertained from the California Department of Developmental Services (DDS), with diagnoses confirmed according to DSM-IV-TR criteria based on expert clinical review of abstracted records. General population controls (GP, n = 599) were randomly sampled from birth certificate files and matched to ASD cases by sex, birth month and year after excluding individuals with DDS records. EMA has published over 20 papers examining immune markers, endogenous hormones, environmental chemicals, and genetic factors in association with ASD and ID. This review summarizes the results across these studies, as well as the EMA study design and future directions. Results EMA enabled several key contributions to the literature, including the examination of biomarker levels in biospecimens prospectively collected during critical windows of neurodevelopment. Key findings from EMA include demonstration of elevated cytokine and chemokine levels in maternal mid-pregnancy serum samples in association with ASD, as well as aberrations in other immune marker levels; suggestions of increased odds of ASD with prenatal exposure to certain endocrine disrupting chemicals, though not in mixture analyses; and demonstration of maternal and fetal genetic influence on prenatal chemical, and maternal and neonatal immune marker and vitamin D levels. We also observed an overall lack of association with ASD and measured maternal and neonatal vitamin D, mercury, and brain-derived neurotrophic factor (BDNF) levels. Limitations Covariate and outcome data were limited to information in Vital Statistics and DDS records. As a study based in Southern California, generalizability for certain environmental exposures may be reduced. Conclusions Results across EMA studies support the importance of the prenatal and neonatal periods in ASD etiology, and provide evidence for the role of the maternal immune response during pregnancy. Future directions for EMA, and the field of ASD in general, include interrogation of mechanistic pathways and examination of combined effects of exposures. |
topic |
Autism Risk factors Immune response Early Markers for Autism |
url |
https://doi.org/10.1186/s13229-021-00429-7 |
work_keys_str_mv |
AT kristenlyall aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT jenniferlames aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT michellepearl aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT michelatraglia aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT laurenaweiss aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT gaylecwindham aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT martinkharrazi aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT cathleenkyoshida aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT robertyolken aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT heatherevolk aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT paulashwood aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT judyvandewater aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT lisaacroen aprofileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT kristenlyall profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT jenniferlames profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT michellepearl profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT michelatraglia profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT laurenaweiss profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT gaylecwindham profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT martinkharrazi profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT cathleenkyoshida profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT robertyolken profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT heatherevolk profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT paulashwood profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT judyvandewater profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia AT lisaacroen profileandreviewoffindingsfromtheearlymarkersforautismstudyuniquecontributionsfromapopulationbasedcasecontrolstudyincalifornia |
_version_ |
1724210698234363904 |