A team from Yale heading up regional recruiting efforts for one of the most comprehensive medical studies ever attempted to try to get to the root of what causes Autism Spectrum Disorder (ASD) was in Newtown recently as part of a resource event at the new Community Center.

More than two dozen families visited during the four-hour session to either learn more about community resources or to participate in Simons Foundation Powering Autism Research (SPARK).

One of the study’s point people, Abha Gupta, MD, PhD was on hand to meet potential SPARK volunteers. “We were really pleased with the turnout,” she said, “and we heard from a number of people that there aren’t really a lot of activities like this kind of event for families affected by autism. The main purpose was to inform families about the study and interest them enough to participate — we’re making a big push to recruit as many families as possible.”

Dr Gupta currently serves as the Assistant Professor of Pediatrics (General Pediatrics) at Yale. Her clinical and research interests are in ASD, especially regressive conditions such as childhood disintegrative disorder (CDD).

“I’m trying to better understand regression in autism, because about a third of kids on the spectrum experience regression,” she said. “We’re trying to understand why so many kids are losing skills — so I’m investigating the biological mechanisms behind that.”

She obtained postdoctoral research training in the genetic investigation of ASD. As a principal investigator, she is pursuing both the genetics and neurobiology (stem cell modeling) of ASD.

“We’re also trying to understand why three to four boys are diagnosed with autism to every one girl. So we’re trying to figure out if we’re under-diagnosing girls, if there’s something biologically different, or if there is a female protective factor,” Dr Gupta added. “It’s very exciting, because we don’t come across girls on the spectrum too frequently. We’re about to submit a paper that shows differences between the parts of girls’ brains affected by autism than boys.”

Yale SPARK & SFARI

Dr Gupta told The Newtown Bee that Yale is one of 30 clinical site partners participating in this unprecedented effort sponsored by the Simons Foundation Autism Research Initiative (SFARI).

Today, with a budget of $75 million per year, SFARI supports more than 250 autism researchers in the United States and around the world, working in a range of scientific fields that includes genetics, neuroscience, and clinical research.

SFARI was an early leader in the study of the genetics of autism. Seeing a need to create a large genetic data set of autism families that could be made available to all researchers, SFARI launched the Simons Simplex Collection in 2006, gathering genetic and other information on nearly 3,000 families to date.

Data from the Simons Simplex Collection has yielded many important advances in the search for a genetic basis of autism. SPARK is the next step in SFARI’s effort to advance autism research, Dr Gupta said.

Autism is a complex and varied condition that will require genetic analysis of tens of thousands of families not only to further genetic understanding but also to gather important behavioral and medical information from all types of families affected by autism she said.

Until now, only a small number of individuals and families affected by autism have ever participated in research, Dr Gupta said. While one of SPARK’s goals is to advance science, another immediate goal is to provide useful resources for those impacted by autism.

This collaboration was evident in Newtown on January 25, as representatives from Newtown Youth and Family Services, Autism Behavioral Health, UConn KIDS, Haskins Laboratories’ Listening to Faces, and the Yale Child Study Center took part in the resource fair, while visitors enjoyed snacks and youngsters participated in organized craft activities.

“Our research team members were actually handling study participants and taking samples while several other agencies were on hand to talk about what they do,” Dr Gupta said. “We’re just one of almost three dozen sites around the country working to recruit about 50,000 families affected by autism. Our center covers all of Connecticut, up into Massachusetts and Vermont, and into east central New York all the way up to Rochester.”

Get Involved Now

Families who could not make the fair are encouraged to call or e-mail the Yale SPARK team to get involved.

“We’re trying to make this as easy as possible for families,” Dr Gupta said. “So it’s set up for people to do, even if they don’t leave their home. It can all be done entirely online and through the mail.”

Anyone interested in learning more can e-mail the SPARK study team at Yale at sparkforautism@yale.edu or call 203-785-7539. There is no cost to participate, and all participants who complete the study will receive a $50 Amazon gift card.

Family members who can join SPARK include both of the child(ren)’s birth parents; any additional children with a formal ASD diagnosis under the age of 18, or any legally dependent adult child.

One full biological sibling of the child with autism who does not have an ASD diagnosis can be added; parents with more than one child with ASD may add all siblings without autism.

Those who would like to stay up to date on this autism research project can also visit sparkforautism.org/yale. Families can sign up for an e-newsletter to get the latest updates from SPARK, including information about genes and ASD research, webinars, and personal stories from SPARK’s ASD community.

Participants may also be interested in the program’s monthly webinars, where speakers from the autism community provide useful information for families and people with autism. All are welcome — webinar links are issued in the monthly newsletter. Anyone with suggestions for webinar topics is invited to submit them to webinars@sparkforautism.org.