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ARRA Investments in Environmental Contributors to Autism


Public Health Burden
Individuals who are diagnosed with an autism spectrum disorders (ASD) have difficulties in language and social interaction and show repetitive or restricted behaviors and interests.  Autism spectrum disorders are most often lifelong conditions and create tremendous challenges not only for affected individuals and their families but also for educational and service providers.  Once thought to be rare, autism spectrum disorders have increased dramatically over the past twenty years and now affect as many as 1 in 100 children.  There is an urgent need to better understand the causes of these disorders and to use that knowledge to develop more effective treatments and supports to improve the lives of affected individuals.

Discovery of autism risk factors through ongoing epidemiology studies
Autism spectrum disorders are likely to have many different causes, in keeping with the wide variety of symptoms and severity among affected individuals. To help identify environmental causes, studies with large numbers of affected individuals, representative of the overall population, are needed to understand how varying levels of environmental exposures relate to symptoms. Such population based studies of autism make it possible to look at many different kinds and levels of environmental exposures and to determine whether an exposure affects a small subgroup of people with ASD. ARRA funding is being provided to:
  • Accelerate data analysis in the Childhood Risk from Genetics and Environment (CHARGE study). To date, this study has collected data from medical records, questionnaires and biologic specimens such as blood and urine from more than 1000 children with autism and controls.1
  • Enhance enrollment in the Early Autism Risk Longitudinal Investigation (EARLI), a study enrolling mothers of children with autism who are pregnant or planning to become pregnant with another child.  By closely following the mother during her pregnancy and the baby during the first three years of life, the investigators hope to identify genetic and environmental factors that affect the risk of the child developing autism.2
  • Investigate whether environmental factors during pregnancy are related to the likelihood that the offspring will be diagnosed with autism using maternal blood samples that were collected and stored in nearly all pregnancies in Finland from 1987-2007.3
Expand environmental exposures under study as autism risk factors
Autism is known to have a strong genetic component, yet most scientists acknowledge a role for exposure to environmental agents.  One view is that the environment acts together with genes to trigger autism in susceptible individuals or to influence its severity.  The task of identifying the environmental causes of autism is difficult because there are a large number of environmental agents that are known to influence neurodevelopment and that deserve investigation as possible culprits.  To expand the number of exposures and gene environment interactions that are being investigated, researchers will:
  • Examine whether air pollution due to traffic, a common environmental exposure, increases risk for ASD.  This study will also look at genes that process pollutants in the body to determine if they are different in children with and without autism, and to see if these genes interact with air pollution to increase autism risk.4
  • Determine whether polyfluoroalkyl compounds (PFCs), widespread and persistent industrial pollutants that may interfere with the actions of hormones, are found at higher levels in samples from newborns later diagnosed with autism, compared to samples from newborns that develop normally.5
  • Analyze several classes of chemicals found at increasing concentrations in the environment that have never been examined in relation to autism -- pyrethroid pesticides, flame retardants (PBDEs: polybrominated diphenyl ethers), and plasticizers (BPA: bisphenol A phthalates). This study will expand exposure analysis of an existing autism study by adding collection and analysis of household dust and a food frequency questionnaire.6
  • Identify genes whose effects on autism spectrum disorder may vary depending upon the mother’s exposures during pregnancy (smoking and alcohol use, medication, infection) using data obtained on 500 autism cases and controls through the Study to Explore Early Development (SEED), a large epidemiologic investigation of autism.7



  1. 3R01ES015359-03S1 -- The CHARGE Study—Autism Risk from Genetics and the Environment -- Hertz-Picciotto, Irva (CA)
  2. 3R01ES016443-02S1 -- Early Autism Risk Longitudinal Investigation (EARLI) Network -- Newschaffer, Craig J. (PA)
  3. 1R01ES019004-01 -- Prenatal factors and risk of autism in a Finnish national birth cohort -- Brown, Alan S. (NY)
  4. 1R21ES019002-01 -- Investigating Gene-Environment Interaction in Autism: Air Pollution -- McConnell, Robert S. (CA)
  5. 1R01ES019003-01 -- Prenatal Exposure to Polyfluoroalkyl Compounds in the EMA Study -- Croen, Lisa A. (CA)
  6. 3R01ES015359-03S2 -- The CHARGE Study—Autism Risk from Genetics and the Environment -- Hertz-Picciotto, Irva (CA)
  7. 1R01ES019001-01 -- Genome-wide Environment Interaction Study for Autism: The SEED study -- Fallin, Danielle (contact); Newschaffer, Craig (MD)


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Page Last Updated on June 30, 2018 NIH...Turning Discovery Into Health®