December 16, 2010 - On December 8, 2010, Mt. Sinai Children's Environmental Health Center (CEHC), in partnership with Autism Speaks, presented a day long meeting at the New York Academy of Medicine in New York. The goal of the meeting was to invite research leaders from around the world to share their insights on studying autism and the environment, and to seek these experts' guidance to refine further research strategy. As a result of the meeting the CEHC will be creating an action plan for discovery of the unrecognized environmental causes of autism and other learning disabilities in children. Dr. Phillip Landrigan, Professor of Pediatrics at Mt. Sinai, started the conference by presenting the case for an environmental contribution, specifically environmental toxicants, to Autism and learning disabilities.
During the day, 14 researchers highlighted their respective research projects and recent findings. The first half of the day was devoted to a review of current studies, research collaborations, and some preliminary results. First, Linda Birnbaum, Ph.D. from the National Institute of Environmental Health Sciences (NIEHS) spoke. Dr. Birnbaum explained the importance of understanding “environment” as a broad concept that includes chemicals (industrial and agricultural), physical agents (heat, radiation), foods/nutrients, drugs, lifestyle choices, socioeconomic factors, and interactions between all of these parts of the environment. She described the work that NIEHS is engaged in, including the 14 Children's Environmental Health and Disease Prevention Centers (CEHC), which are funded by a partnership between NIEHS and the EPA. Then the group heard from Colleen Boyle, Ph.D, Director of the CDC's National Center on Birth Defects and Developmental Disabilities (NCBDDD). Dr. Boyle described the Study to Explore Early Development (SEED) study, a collaborative, multi-year, 6 state case control study. SEED aims to better characterize the behavioral and physical characteristics (phenotype) of ASD, learn more about ASD comorbidities, and generate hypotheses regarding risk factors. It will look at immunology, occupational exposures, teratogens, lifestyle, socioeconomic status, genetics, and nutrition. The final representative from the federal government was Dr. Marion Balsam from the National Children's Study. The National Children's Study (NCS), a longitudinal observational study that aims to enroll 100,000 subjects and follow them from the prenatal period to age 21. Unprecedented in scope and complexity, it is the largest long term study in the US to look at environmental effects on child health and development. The rationale is that there are suspected environmental contributors to many diseases and much concern about exposures, but little evidence about their actual effects. Read more about the National Children's Study.
During the afternoon, researchers from the US described their efforts to investigate genetic and environmental contributions to autism using epidemiological approaches. First, Dr. Irva Hertz-Picciotto described the CHARGE study, an ongoing case-control study which has generated important research findings in the role of mercury exposure and the immune system. An ongoing project developed within the CHARGE study is bringing back families from the CHARGE study who are pregnant with a 2nd or 3rd child, so that prenatal and early neonatal factors can be studied. This study has since developed into a multi-site, national initiative called EARLI. Dr. Craig Newschaffer, Ph.D., Professor at Drexel University and PI of EARLI (Early Autism Risk Longitudinal Investigation) explained the advantages of using a “high risk” cohort (high risk since siblings of individuals with ASD have a higher probability of diagnosis compared to the general population) to identify risk factors as early as possible. Autism Speaks supports six projects within the CHARGE study and is providing funding to EARLI to expand biomaterial and behavioral data collection.
International research has the potential to uncover important environmental contributions, as genetics and environmental factors differ greatly worldwide. Along these lines, Young-Shin Kim, M.D., Ph.D., described the Autism Speaks-funded Korean Autism Study (KAS). This is a large-scale cohort study that examines gene-environment interactions. Researchers collect biologic, phenotypic, behavioral, and environmental exposure data on children with and without Autism (n=10,000). This includes thorough behavioral and observational assessments from children in both special education and regular, “general population” schools. In addition, Christine Roth, Ph.D. introduced the Norweigian Mother and Child Cohort Study, which ran from 1999-2009 and is available for collaborative or independent use by other investigators. It captured data on 107,000 pregnancies through questionnaires during and after pregnancy and is linked to national registries such as the birth registry. 80,000 of the child subjects turned 3 years old in 2010, and 20,000 turned seven. Dr. Roth also noted that biosamples from this study are part of a national biobank, and invited researchers present at the meeting to consider utilization of these samples for studying gene x environment interactions in autism.
As a goal of the conference was to utilize the knowledge of experts in the field and participants in the audience, Mt. Sinai researchers described their projects in an effort to help understand how these efforts could be developed into studies which uncover environmental contributions to ASD. These include the Seaver Autism Center, a prospective birth cohort looking at phthalate exposure in children, neuropathology and neurobiology, and a newly formed pregnancy biobank which can obtain thousands of samples in the early stages of pregnancy through birth.
At the end of the meeting, Dr. Landrigan emphasized that any progress we will make in unraveling causes of ASD will be multidisciplinary and include those who have been the core of ASD research and clinical work. Beyond that core community, we need a range of other scientific disciplines; toxicology/animal research, epidemiologic, biomarkers, physiologic and neurophysiologic outcome measures. Participants were invited to submit ideas on the potential environmental contributions to autism to the CEHC. A full agenda can be found here. Sallie Bernard, parent and board member of Autism Speaks, provided her perspective of the meeting. Videos from the day's presentations can be found here: www.vimeo.com/cehcenter
The above article was written by Cristina Farrell, M.D., developmental pediatrician in New York and participant in the December 8 meeting