Autism researchers launch early risk factors study

Sacramento, Calif.- — A network of leading autism researchers from three regions across the country today launched one of the largest research studies of its kind to investigate early risk factors for Autism Spectrum Disorders (ASD).

The network, called the Early Autism Risk Longitudinal Investigation (EARLI) Study, will follow up to 1,200 pregnant women who already have a child with autism. The study is considered one of the best-equipped to discover biological markers and environmental risk factors for autism, due to its elevated autism-risk pregnancy cohort, wide-ranging data collection with extensive bio-sampling, lengthy follow-up of pregnant women and their babies, and multidisciplinary team of expert investigators.

Under the study, researchers at four network field sites around the country, including UC Davis, will study possible environmental risk factors and their interplay with genetic susceptibility during the prenatal, neonatal and early postnatal periods. The project will also investigate early biological indicators of autism. The EARLI study is one of 11 National Institutes of Health Autism Centers of Excellence projects nationwide.

The Drexel University School of Public Health in Philadelphia is the national coordinator of the EARLI study network. Other research sites for the study include: Children’s Hospital of Philadelphia (CHOP); the UC Davis M.I.N.D. Institute; Johns Hopkins Bloomberg School of Public Health/Kennedy Krieger Institute in Baltimore; and Kaiser Permanente Division of Research in Oakland, Calif.

The EARLI Study will complement several federally funded research studies already under way at UC Davis, said Irva Hertz-Picciotto, professor and chief of the Division of Environmental and Occupational Health at the UC Davis School of Medicine.

The studies include the MARBLES (Markers of Autism Risk in Babies — Learning Early Signs) study, which is a project of the UC Davis Center for Children’s Environmental Health, and the CHARGE study (CHildhood Autism Risk from Genetics and the Environment), Hertz-Picciotto said.

‘All of these studies have as a goal to learn about environmental factors that may contribute to autism, in conjunction with genetic susceptibility,” Hertz-Picciotto said. Both the EARLI and MARBLES studies are recruiting mothers who have at least one child with autism and who are pregnant or considering another pregnancy. The CHARGE study, begun in 2003, already has over 1,200 children enrolled, and is continuing to enroll any child with autism who is between the ages of 24 and 60 months. It has uncovered several clues about the mechanisms by which environmental chemicals may alter risk for autism and will continue to do so.’

Hertz-Picciotto emphasized the need for multiple studies ‘because of the complexity of autism, the need to replicate findings, and the limits to what can be done in a single investigation when data and specimens are not infinite.’

The network also includes a data-coordinating center at UC Davis and a central lab and secure bio-sample repository at the Johns Hopkins Bloomberg School of Public Health.

‘No other study can more comprehensively explore the impacts and interplay of environmental factors and genetic predisposition in the cause of autism,’ said Craig Newschaffer, a department chair at the Drexel University School of Public Health and EARLI study principal investigator. ‘Our approach is based on assessing potential autism risk factors through all-inclusive data collection that begins when a mother of a child with autism learns she is pregnant and continues through the early life of the new baby.’

The researchers aim to follow about 1,200 mothers of children with autism as soon as they become pregnant and document the development of the newborn through 36 months of age.

“This study has unprecedented potential to help answer many of the questions families affected by autism face everyday, including questions about the genetic and environmental factors that contribute to autism’ said Linda Birnbaum, National Institute of Environmental Health Sciences director. ‘The EARLI study is a very comprehensive investigation that is geared towards identifying early signs of autism and understanding its earliest possible causes.’

Similar to the UC Davis MARBLES study, participants in the EARLI study will be followed for a period of up to four years, including the time during pregnancy and up until the newborn baby is 3 years old. A baby born during the study period will have a number of developmental assessments beginning at 3 months until 3 years of age. The older sibling with autism may also have additional assessments to confirm their diagnosis.

Mothers in the EARLI study will be asked to fill out questionnaires, participate in phone interviews and provide biological samples. Researchers will also collect bio-samples of the newborn from birth through 2 years of age.  The study participants will be compensated for their time and reimbursed for travel related expenses for visits to the clinic. They also will receive reports on the developmental assessments completed on their new babies.

Preliminary analyses are slated to begin as soon as the third year of enrollment. Analyses of the influence of genetic factors on developmental trajectory in high risk siblings are anticipated to begin after four years of EARLI study enrollment. Other major analyses, including those involving interaction of genes and environment, will follow as more families complete the study protocol.

The EARLI study was established with a $14 million Autism Centers of Excellence grant awarded by the National Institute of Environmental Health Sciences, National Institute of Mental Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development and National Institute of Neurological Disorders and Stroke, all components of the National Institutes of Health.

The EARLI study is also supported by a $2.5 million grant from Autism Speaks. The funding, made possible by an anonymous donation to Autism Speaks, expanded and linked two complementary multi-site, network studies that are both NIH Autism Centers of Excellence. The funding represented one of the largest public-private partnerships focused on understanding the causes of autism.

‘Autism Speaks is pleased to provide additional support for this groundbreaking study. It is critical that we broadly explore early environmental and genetic risk factors for autism. Our hope is that the results of this study will someday allow us to identify infants at risk for the disorder and lead to better methods of treatment and prevention,’ said Geri Dawson, chief science officer at Autism Speaks.

ASDs refer to a group of complex neurobiological disorders that today are diagnosed in 1-in-150 U.S. children. Boys are four times more likely to have an ASD than girls. ASDs are characterized by an impaired ability to relate to others and difficulties with verbal and nonverbal communication. Persons with ASDs also typically have repetitive behaviors and restricted interests, and tend to follow rigid routines. Although the degree of impairment across individuals with ASDs can vary, ASD is considered a serious developmental disability.

The causes of autism are unknown and there is currently no cure. The prevalence of autism has increased tenfold in the last decade. The Centers for Disease Control and Prevention consider autism to be a national public health crisis.

The M.I.N.D. Institute is a unique, collaborative center devoted to finding improved treatments, causes and eventually cures for autism fragile X syndrome, Tourette syndrome, learning disabilities and other neurodevelopmental disorders. The community can help speed that process by enrolling their children in research studies. For more information about M.I.N.D. Institute research studies currently enrolling participants, visit https://www.ucdmc.ucdavis.edu/mindinstitute.