Autism Breakthrough: Researchers find trigger for 1%

Boston researchers find genetic trigger for 1 percent of autism

By Carey Goldberg, Globe Staff

Boston-based autism researchers have pinpointed a genetic “hot spot” where DNA errors appear to increase a child’s chances of developing autism one-hundred-fold.

The discovery, reported on-line in the New England Journal of Medicine this afternoon, stems from the most extensive genome scanning for autism done so far. The scans found that in just over 1 percent of people with autism, a chunk of about 25 genes had been either duplicated or deleted, mainly in spontaneous mutations not carried by their parents.

Some researchers believe such copy-number errors help explain how autism can often crop up in families seemingly out of nowhere. Diagnoses of autism have skyrocketed in recent years, and the disorder now affects an estimated 1 in every 150 American children.

“It’s like having a recipe where you take some of the ingredients and use half as much or twice as much,” said Dr. David T. Miller of Children’s Hospital Boston. “It’s going to change how the recipe turns out.”