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Early Autism Risk Longitudinal Investigation (EARLI)

The Early Autism Risk Longitudinal Investigation (EARLI) project began enrolling subjects for their extensive study in the spring of 2009.1 Longitudinal refers to the fact that participants in this study will be monitored for an extended period of time, in this case data will be collected from participants for approximately 4 years,2 compared to focusing at one point in time.3 This pioneering study will “enroll and follow 1,200 mothers of children with autism at the start of another pregnancy and document the newborn child’s development through three years of age.”4 The goal of observing 1,200 mothers is hoped to be achieved through the course of this ten year study.5 The EARLI study will allow investigators to receive a bounty of information pertaining to the way genetic and environmental factors contribute to the onset of autism spectrum disorders (ASDs). According to M. Daniele Fallin, Ph. D., the principal investigator of the EARLI project, this “approach allows us to gather a lot of information as it occurs during pregnancy and early life, which increases the accuracy of the data. As we gather information about maternal health, diet, behavior and environmental exposures, we're also getting biological samples, including blood and hair. All this gives us important genetic and environmental data so that many risk factors can be considered in the same study.”5

Procedure of EARLI Study
The EARLI study has been funded 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.2 An additional $2.5 million grant from Autism Speaks has also helped to fund this groundbreaking study. The Drexel University School of Public Health in Philadelphia is the national coordinator of the EARLI study network.1 Participants in the EARLI study are asked to complete a series of clinic visits, telephone interviews, surveys, and diaries throughout the course of the study. EARLI is seeking out multiplex (more than one child with autism) families who live no more than 2 hours away from one of the four research sites.6 Families will naturally be compensated for their time and reimbursed travel and meal costs.

The data and the biological samples collected during this project will be “carefully chronicled and stored so that as the scientific community generates new clues about how Autism Spectrum Disorders develop, EARLI will be in the best position to follow-up on these leads.”7 Children in this study will be given multiple free evaluations during crucial developmental milestones, which will potentially be able to detect the onset of autism earlier than a regular pediatric check-up. Mothers of a child with autism who are once again pregnant (only if you are less than 28 weeks pregnant), are trying to become pregnant, live within two hours of the four research sites, and are interested in participating in this investigation are encouraged to contact the EARLI study.8

Similar studies involving sibling recurrence over the past twenty years have reported 2-8% of younger siblings of children with ASD eventually developed ASD themselves.9 However, since past sibling recurrence studies were “limited by small sample sizes and biases related to ascertainment, reporting, and stoppage factors,”10 the above numbers may be inaccurate. More recently, a 2011 longitudinal study, authored by several members of the BSRC, which was published in the journal Pediatrics, concluded that “18.7% of infants with at least 1 older sibling with ASD developed the disorder.”10 Consistent with the parameters of the EARLI study, the Recurrence Risk for Autism Spectrum Disorders: A Siblings Research Consortium Study observed 664 siblings of children with autism for the first 36 months of their life, at which point they were either diagnosed as having or not having an ASD.10 The study’s findings indicate that the recurrence rate for siblings is approximately 5 times higher than previously thought.11

According to the EARLI Study website7, the information collected from the EARLI study will be analyzed to examine the following:

1. How environmental exposures during pregnancy and early life might play a role in the development of an ASD

2. How genetics may influence the risk of ASDs—especially how genetic make-up might make certain children more vulnerable to environmental exposures

3. Whether there are biological markers (for example, things we can easily measure in blood or urine) that will predict whether a baby eventually develops an ASD

4. How the behavior of newborn siblings of children with an ASD changes over time and what behaviors might be early signs of an ASD

While progress is being made to collect data from participants across the country, the long-term goals of the EARLI project are still evolving.

Evolution of EARLI
In 2010, a new grant was awarded from the National Institute of Environmental Health Services to “test the hypothesis that autism related disorders have both a genetic and an epigenetic basis. Epigenetics refers to changes in gene expression that are not due to the DNA sequences itself, but rather to chemical or structural modifications of the DNA.”12 Through processes like methylation and chromatin modification, genes can be “turned on” and “turned off”. These modifications are significant for distinguishing different organs in the body and for triggering typical development.12 In other words, epigenetics “gives us a way to look at the interaction between genes and environment, it holds great potential for identifying ways to prevent or reduce the risk of autism. It may also help us develop medicines and other interventions that can target disabling symptoms.”13 The implications of this study will not only focus on the genetic causes of autism, but may also provide insight into the environmental risk factors for ASD. Scientists have concluded that epigenetic mechanisms can be affected by environmental chemicals to “influence disease progression in this manner, including examples in cancer, obesity, diabetes, and autism.”12

The project will link data from the EARLI study and the National Children’s Study, which is presently collecting data pertaining to the effects of the environment and genetics on the growth, development, and health of children from birth until age 21.14 These databases will combine to provide an enriched autism sample and population representation.12 Once the data is collected the study “will examine whether or not there are regions of the epigenome that are more susceptible to environmental insults, and if those epigenetic alterations affect developmental traits such as autism.”12 The EARLI study will investigate a wide array of environmental exposures including dietary and lifestyle factors, medications and personal care product use, and suspected neurotoxicants, such as persistent organic pollutants.1 By investigating these risk factors researchers hope to achieve the overall goal of the EARLI study, which is to enhance our knowledge about the complex causes of autism and help move science towards the eradication of Autism Spectrum Disorder.7

The Infant Brain Imaging Study (IBIS) is another large scale, multi-site project that has linked up with the EARLI project to investigate high risk baby siblings.