Study to explore connection between autism and genetics – Chicago Tribune

Denise Ricco didn't know for sure what was hampering her son's development until his relatively mild form of autism spectrum disorder was diagnosed in the fourth grade.

She wondered, how much more effective would therapy have been if she had known the diagnosis when her son was an infant, or even before he was born?

"We could have found out if we needed to go in a different way, and sought additional support," she said.

Ricco, of Northbrook, said she wants to help give that kind of head start to the next generation of parents of children with autism.

Ricco, her husband and son all were tested as a part of what organizers are calling the largest study of its kind to find genetic markers of autism spectrum disorder. Organizers of that year-old study called SPARK (Simons Foundation Powering Autism Research for Knowledge) are asking for the families of 50,000 people with autism to be tested.

Not only is the study large but it's also inclusive, said Kathryn Heerwagen, a local organizer for the project.

"Other studies have depended solely on an intact biological family," she said. "Ours works with any family structure."

She said that families can easily have parents, and one sibling under the age of 18, tested, because the inside-the-cheek-swab can be done at home, and arranged entirely through the Internet, through http://www.SPARKforAutism.org/rush, and mailed back to researchers. The study promises to mail a $50 gift card to each family.

As of early in April National Autism Awareness Month "25,328, individuals with ASD (autism spectrum disorder) and their families are participating," said Heerwagen, of the Assessment, Research, Treatment and Services Center at Rush University Medical Center. Rush is handling the Chicago-area end of the three-year-long study.

Researchers also are offering professional testing of families next month, for those who prefer to go that route. Testing will take place May 6 at Have Dreams, 2020 Dempster St., Evanston, 10 a.m. to 1 p.m., and the AHSS Autism Center, 85 Revere Drive, Suite B, Northbrook, 2 to 5 p.m. Another collection opportunity will take place about a month later, 10 a.m. to 4 p.m. June 17, at the Autism Family Center, 670 W. Hubbard St.

"There are a lot of families who would rather come in, get additional assistance, and have us walk them through it," Heerwagen said.

She said that it's still far from clear how much of autism is genetic, and how much is caused by other factors.

"There are traits that are handed down through lineage, and de novo (new) traits that happen in that child," Heerwagen said.

She said that research has already shown that autism sometimes runs in families. With this study, scientists hope to find out more about how that happens.

When, for instance, a chromosomal abnormality is found in a person with autism, "we want to pull all the individuals with that certain deletion, and then we can re-contact those individuals, and study the efficacy of treatments of people with that deletion marker," Heerwagen said.

Other, more personal stories may be told with the research, she said. Those include finding which families might have a genetic marker for autism. Then, a person who has been tested might get a call asking how much they would like to know about their genetic predisposition for the disorder.

All of the data will be made available, with security controls, to unaffiliated research groups, she said.

She said the data also may reveal possible indicators of autism spectrum disorders in children even before they are born, but that isn't the focus of the research.

"Prevention is not the aim of this study," she said. "It's better understanding."

ileavitt@pioneerlocal.com

Twitter @IrvLeavitt

More:
Study to explore connection between autism and genetics - Chicago Tribune

Related Posts