A network of leading autism researchers from three regions across the country has 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), will follow a cohort of 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, length of time it follows pregnant women and their babies, and multi-disciplinary team of expert investigators.

Under the study, researchers at four network field sites in three regions across the nation 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 eleven 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. The local research sites for the study include: Drexel University School of Public Health/Children's Hospital of Philadelphia (CHOP); University of California at Davis/MIND Institute; Johns Hopkins Bloomberg School of Public Health/Kennedy Krieger Institute; and the Kaiser Permanente Division of Research in Oakland, CA.

"No other study can more comprehensively explore the impacts and interplay of environmental factors and genetic predisposition in the cause of autism," said Dr. 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. "We also really need to involve families of children with autism in the study areas who may become pregnant in the future," said Newschaffer. "If EARLI can stay in contact with large numbers of these families it will increase our chances of being able to follow mothers as soon as they become pregnant."

According to EARLI researchers in the study, the study's cohort of elevated autism risk pregnancies will help to greatly advance the understanding of possible autism environmental risk factors and biomarkers during different developmental windows, as well as the interplay of genetic susceptibility and environmental exposure. "The cohort will be one of the largest of its kind in the nation. By studying families who are already affected by autism, we feel we have the best chance at learning how genetics and environmental factors could work together to cause autism," said Newschaffer. "The EARLI Study is expected to advance researchers' understanding of the natural history and progression of ASD."

"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, Ph.D., 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."

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

Participants in the study will be followed for a period of up to four years, including the time during pregnancy and up until the newborn baby is three years old. The baby born during the study period will have a number of developmental assessments beginning at six months until three 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 two years of age. The study participants will be compensated for their time as well as reimbursed for travel related expenses for visits to the clinic and 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, to the Drexel University School of Public 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 ground-breaking 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," remarked Geri Dawson, Ph.D., Chief Science Officer at Autism Speaks.

ASDs refer to a group of complex neurobiological disorders that today are diagnosed in 1:150 US 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, restricted interests, and/or 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.

Jane Rubinstein
Autism Speaks