Birth Defects & Developmental Disabilities
Groundbreaking Study Looks for Causes of Autism Spectrum Disorder:
An Interview with Amy Kelly of Drexel University’s EARLI & Parent of a Child with ASD
Amy Kelly is the community outreach coordinator for Drexel University’s EARLI study, currently enrolling eligible mothers and families in an effort to solve the torturous puzzle of autism’s unknown causes. Amy is also the mother of three – two typically-developing sons, ages six and nine, and a daughter with Autism Spectrum Disorder (ASD), age eight. Amy’s daughter, Annie, was diagnosed with classic autism the day before she turned two – just weeks before Amy gave birth to her youngest child, Ryan. After her daughter’s diagnosis, Amy became a fundraiser for the autism cause. Now she has taken her contribution a step further with her role for the EARLI study, working with both the families of children with autism and their care providers.
Q. What is the EARLI study?
A. The Early Autism Risk Longitudinal Investigation, or EARLI, is a groundbreaking research study looking at possible environmental and genetic links to autism, in the ongoing quest for scientific knowledge about the causes of autism spectrum disorder (ASD). It is being conducted in Pennsylvania, Maryland and California. Dr. Craig Newschaffer, a department chair at the Drexel University School of Public Health in Philadelphia, is the principal investigator for the EARLI study nationwide.
Q. What is Autism Spectrum Disorder (ASD)?
A. ASD, commonly called autism, is a developmental disorder characterized by decreased social skills, delays in speech and communication, repetitive behavior, low eye contact and difficulty with self-entertainment. ASD can reveal itself in a variety of ways. Its causes are unknown, and there is no cure.
Q. How will the EARLI research team investigate possible causes of ASD?
A. The EARLI study will collect both biological samples (such as blood and urine, samples from the umbilical cord, placenta and meconium of the new baby) and environmental samples and information (such as dust, medications, diet, medical history). These samples and information will be analyzed to investigate
- How environmental exposures during pregnancy and early life might play a role in the development of an ASD.
- How genetics may influence risk of ASDs – especially how genetics might make certain children more vulnerable to environmental exposures.
- 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.
- How the behavior of newborn siblings of children with an ASD changes over time, and what behaviors might be early signs of an ASD.
Q. Where are the EARLI study sites
A. There are four EARLI study sites across the US. They are located in Southeast Pennsylvania (with Drexel University and Children’s Hospital of Philadelphia), Northeast Maryland (with Johns Hopkins University and Kennedy Krieger Institute) and two in Northern California (one at Kaiser Permanente Northern California Division of Research and the other with UC Davis and the M.I.N.D. Institute).
Q. Who can participate in the study?
A. We are recruiting 1,200 mothers who have a child with autism spectrum disorder (ASD), who are 20 weeks pregnant or less (or may become pregnant), and who live near one of the four EARLI study sites.
Q. What is required of participants?
A. Participants in the EARLI study will be asked to fill out questionnaires, do phone interviews and provide biological samples throughout pregnancy, at delivery and afterward. Staff collect biological samples from each participant’s baby until two years of age. Participants also take part in study visits in their homes and at the clinic. One visit will involve bringing the child who has ASD for behavioral and developmental assessments.
Q. What are the risks and benefits of participation?
A. Participating families in the EARLI study receive autism research assessments from clinical experts that include developmental evaluation of the new baby from six months to three years of age. The older sibling with ASD will have one assessment at the start of the study and baby siblings will be evaluated four times during their first three years of life. Parents will receive written reports with summary scores, when appropriate, from assessments administered during the EARLI study. Research assessments can’t provide a clinical diagnosis, and therefore they cannot fully replace assessments families would get if they went to a clinician for a clinical evaluation. However, research and clinical assessments have similarities and experience has shown that similar reports from other research studies have been of value to families.
Participating families are also compensated for their time, covering travel costs and offering $545 to $605 if the entire study is completed from early pregnancy until the newborn reaches age three. Other benefits include small gifts for participating children, a new diaper bag, access to local autism resources and information about study findings.
Q. What can partners in maternal-child health do?
A. The EARLI study represents an opportunity to contribute to a large, national study that is gathering information in real-time to find the causes of autism. Healthcare providers and other professionals who work with mothers, children and families can share information about the EARLI study with those who might be eligible to participate.