Kelli Gibson, of Battle Creek, Michigan, knew that Connor was different from other babies. He’d stare at the ceiling fan for hours and scream if she moved him away from it. His first words were not “mama” or “dada,” but “light!” Objects, not people, interested him. Still, he met his developmental milestones on time. Gibson’s pediatrician dismissed her concerns, reminding her that all kids develop “differently.”
Gibson’s second son, Keifer, was different too. A peaceful, undemanding baby, he was slow in meeting his milestones. Again, the doctor dismissed her concerns with the line about children developing differently.
When Gibson insisted that a psychologist evaluate Connor, the specialist likewise described her oldest son as “normal.” At that point, Gibson stopped second-guessing the experts. “I swallowed my pride and took the professionals’ word. Everyone else was right, and I was wrong.”
It wasn’t until Gibson was pregnant with her fourth child that her concerns received some support. A friend recognized similarities between Gibson’s boys and her own nephews, who had been diagnosed as being on the autism spectrum. That friend advised Kelli to insist that her two oldest sons be evaluated specifically for autism.
The results confirmed Gibson’s intuitions – and her fears. In 2004, Connor, then 5, received a diagnosis of Asperger syndrome. Keifer, 3 ½, received the diagnosis of autistic disorder, or “classic” autism. Later, her younger sons Caiden and Kolten would likewise be diagnosed with an autism spectrum disorder (ASD). The Gibson’s youngest child, daughter Kellen, now 3, has not shown any signs.
“We were so new to autism, and I wondered if we were the only family that had this many children affected,” Gibson says. It was through an online support group that she learned about Autism Speaks Autism Genetic Resource Exchange (AGRE). The program collects and maintains a storehouse of genetic and diagnostic information on families with more than one child affected by autism.
Using the AGRE website, Gibson submitted her family’s story. “I wanted to learn more about why we had so many children with autism and reach out to see if there were more families like us.”
The Autism Genetic Resource Exchange
More than 2,000 families like the Gibsons contribute genetic samples and pertinent medical and family information to AGRE. AGRE provides this information – in anonymous form – to highly qualified and carefully vetted scientists pursuing autism research.
The idea behind this autism information storehouse came from concerned parents in the late 1990s. These parents founded the advocacy group Cure Autism Now, which became part of Autism Speaks in 2007. They wanted to speed research on the genetic causes of ASD and convened a think tank of leading scientists to identify the obstacles. One such obstacle is the time and expense of recruiting families for studies. So high is the burden that researchers tend to base their studies on relatively small groups of participants.
However, genetic studies require a large number of subjects to produce reliable scientific information, explains Clara Lajonchere, Ph.D., who oversees AGRE as Autism Speaks vice president of clinical research programs. Another roadblock to genetic studies, she explains, was the tendency of researchers to hoard rather than share their genetic samples and associated information.
From these needs, AGRE was born. Its mission: to assume the job of family recruitment and high quality data collection with the goal of speeding research and increasing the reliability of scientific results. At the same time, AGRE is dedicated to ensuring that the resulting information be shared globally to further advance and deepen understanding of autism.
“AGRE allows researchers to do what they do best, which is the science,” says Dr. Lajonchere.
To date, AGRE has received close to $10 million in funding from the National Institutes of Health. It has invested this support into the collection of an unprecedented amount of medical, genetic, diagnostic and behavioral information on families with more than one child affected by autism.
Having this large and comprehensive collection of information can help researchers study subgroups of individuals with particular genetic or behavioral traits, Dr. Lajonchere says. One researcher may want to study twins. Another may want to study boys with one sibling affected by ASD. Another may want to look at children whose skills have regressed. Yet another might want to study children with language difficulties. “Researchers can do their own searches [of the AGRE database] to identify a set of subjects that is most relevant to their hypothesis,” Lajonchere says.
The genetic samples and information provided by AGRE families have become the backbone of some of the most important research findings on autism. One of these groundbreaking studies was the 2011 California Autism Twins Study. Previous research had suggested that autism stemmed almost entirely from genetics. That is, autism was predetermined in a person’s DNA. This study dispelled that belief by showing that nongenetic influences – particularly prenatal influences – may significantly affect the risk that a baby will go on to develop autism.
Scientists refer to such nongenetic influences as “environmental” risk factors. However, they use this term to refer to much more than, say, toxic chemicals in the environment. It also refers to such influences as parental age at time of conception, maternal nutrition immediately before and during pregnancy, prematurity and birth complications.
Another AGRE study identified a genetic variation that plays a crucial role in the development of about 15 percent of autism cases. Time magazine included the findings in its Top 10 Medical Breakthroughs of 2009. AGRE is also a contributor to Autism Speaks’ Autism Genome Project, the largest international program dedicated to identifying genes associated with autism.
In addition to providing insights into the causes, or risk factors, for autism, AGRE families are providing information that promises to improve early diagnosis and intervention. It also may help distinguish different subtypes of autism that may respond best to different therapies, Dr. Lajonchere explains. Most recently, genetic studies have begun to identify potential targets for future medicines that may ease autism’s core symptoms of repetitive behaviors, language difficulties and social challenges.
In total, more than 400 research groups have used the AGRE database to date. Since 2001, they have published more than 200 articles in peer-reviewed scientific journals.
Recently AGRE’s activities and overall mission have shifted from the recruitment of new families to combining and coordinating AGRE’s genetic and clinical information with that of Autism Speaks’ other large databases and databases around the world. In doing so, AGRE has become the model for the global sharing of vital genetic material and related information on autism.
Volunteering for AGRE
Families who volunteer to participate in AGRE already have two or more children diagnosed with autism. Nonetheless, AGRE sends a staff psychometrician to visit each family for an in-home re-evaluation. This ensures that all information is collected consistently and reliably, Dr. Lajonchere explains. Sending AGRE staff to each home reduces the anxiety and burden on the participating family.
Gibson recalls the day the psychometrician visited her bustling home. A year earlier, an AGRE phlebotomist had visited to draw blood from all seven family members. (“It was the easiest blood draw the boys ever had,” Gibson says.) During the psychologist’s visit, Connor, Keifer, Caiden and then Kolten each underwent a series of cognitive, behavioral and psychological tests in the family dining room.
Connor, 11 at the time, went first. Old enough to understand why he was being re-tested, he gamely complied. But his younger brothers struggled. Keifer, the most severely affected by autism, just wanted to play video games. Kolten, who in addition to being on the spectrum, has attention deficit hyperactivity disorder (ADHD), became frustrated with the questions, his frustration eventually triggering a screaming meltdown. The testing took two days in all.
“I did not regret for a second putting them through this extra set of testing,” Gibson says. “I’ve now seen studies that have used the AGRE database, and I know that to some degree my family is in there helping with that research,” she says. “I really did this for others. But participating in AGRE also allowed us to be a part of the big picture, part of the autism community.”
Editor’s note: Autism Speaks extends a deep thanks to all the families and individuals who participate in autism research as well as those who support this research with volunteer work and fund raising. Learn more about research opportunities on our website’s Participate in Research page. Learn more about Autism Speaks-funded studies made possible by AGRE families here.
Please also see these recent Feature Profiles of the researchers and families behind our funded research and scientific programs: Sina’s Last Gift, Launching a Career in Autism Research and Hunting for Autism’s Early Clues. You may also want to check out Autism Speaks Family Support Tool Kits, including our Siblings Guide to Autism, here.