Early Warning System: Autism and At-Risk Children

By Kristina R. Anderson

(page 2 of 3)

Courchesne was the primary author, with coauthors Ruth Carper and Natacha Akschoomoff, of a 2003 research paper published in the Journal of the American Medical Association titled “Evidence of Brain Overgrowth in the First Year of Life in Autism.” Courchesne was the first researcher to find a potential early-warning sign for future autism cases and link it to a later brain abnormality.

“Clearly, autism is a brain-growth abnormality with a powerful genetic component. It is possible environmental factors may trigger or aggravate the collection of abnormal actions of the risk genes,” explains Courchesne, who says their research aims to identify the specific elements in the brain that are growing abnormally and the genes that regulate the abnormal growth. “Once we identify the causes of this disorder, then we will try to stop the unfolding of the autistic symptoms and improve the outcome—that is our ultimate goal.”

Courchesne is director of the new center for autism at UCSD and Children’s Hospital that focuses on the early identification issues, especially in the area that involves early brain overgrowth where genetic screening and imaging tests will focus on that theme. The goal of the center is to discover a biobehavioral “fingerprint” of autism around the age of 12 months that could perhaps uncover the cause of the disorder, while empowering pediatricians, clinicians and parents to make early and informed treatment decisions.

The group will focus on the hypothesis that early brain overgrowth is the culprit, and it will develop autism screens for pediatricians to give families to complete and later visit the lab if certain criteria are met. If those red flags are seen at 12 months, and if the child is failing significant social milestones at that age, he or she will be followed and assessed again at 18 months and at 24 months. However, a final diagnosis of autism will not be given until the child is 21⁄2 or 3, depending on the child.

PIERCE MAKES IT CLEAR there are no smoking guns for autism diagnosis, and children will never be definitively diagnosed until they are a bit older.

“There are early at-risk signs consistent with autism, but no one in America can diagnose a child at 12 months because of the variability in normal development,” she says. “What we are trying to develop is more of a probability. If a child has a particular profile, what is the probability the child will become autistic? We’ll be looking at the brain—MRI scans, blood markers, genetic expression and gene association studies.”

The average age of children starting treatment for ASD has decreased as early symptoms are being recognized with a referral to a treatment center by the family pediatrician.

Kelly Geddes, a developmental autism specialist from Children’s Autism Intervention Center at Children’s Hospital, says they are teaching parents how to interact with their toddlers as young as 13 months of age, although many are now starting classes around the age of 18 months.

“We’re working on joint attention and teaching the child to respond to his or her name—communicative intent—and to look at and then point at items,” says Geddes.

She says the tricky thing about autism and why it’s referred to as a “spectrum disorder” is the degrees of functioning among their ASD groups: “In a 12-week program, we do our best to match the kids on skilllevel abilities and their level of functioning. Depending on that, they’re going to make varied amounts of progress, but it’s safe to say we’ve never had a child go through a program who didn’t at least make some significant gains. Because the truth of it is that as the child ages, necessary social skills become more sophisticated; it’s an ongoing process of having to stay on top.”

Parents are thrilled with the programs at UCSD and Children’s Hospital, she says, noting that any service provider has to make it known from the beginning that everything is a process, and that many of the kids who start off at “the lower end of things may need services throughout their entire life.”

Geddes concedes, “There is no quick fix.”