About one in 88 children in America are thought to have some form of autism. Usually, the illness that affects communication and social abilities is diagnosed when autistic children show slower language development than other kids.
But a team at Clarkson University in Potsdam is hoping their research into the disease might make earlier diagnosis and intervention possible.
The research at Clarkson focuses on identifying biomarkers for autism. A biomarker is some aspect of a subject's biology that indicates an illness, something that points to the presence of a particular condition.
Alisa Woods is a neurobiologist, and she says that pinning down the biomarkers for autism could result in an earlier diagnosis, long before the child begins to show problems with language acquisition around age two.
Biomarkers work like fingerprints
"It's like a detective, you know, taking a fingerprint from a crime scene. It's the same. And then they look into the database and they find out who that is; it's the same kind of idea," she says.
Woods says biomarkers could also prove useful in monitoring treatments for autism, because biological changes might prove easier to track than behavioral ones, and may also appear earlier during treatment.
"So you could say, 'Oh, this behavioral therapy' – or even, you know, if it comes to medications – 'This medication is working.' And this biological indicator tells us that."
Research a family affair
This work at Clarkson is actually something of a family affair. Woods heads up the biomarker research with her husband CostelDarie, a biochemist. Their five-year-old son has autism.
"We just ended up realizing that there's this interesting problem – and it's such a huge societal problem – and if we combine our different types of expertise, we can actually tackle it in a new way," she says.
Woods says identifying biomarkers could lead to earlier diagnosis, and earlier interventions that can assist autistic children's development.
"Behavioral interventions can be initiated at a very early age, even before two years old," she says. "So then you might start doing those interventions – and early interventions have been known for over 20 years to be more effective than later interventions."
Frozen samples
In a lab at the university, a machine called a mass spectrometer creates a loud drone as doctoral student IzabelaSokolowska shows off some of the equipment that the autism team uses in its work.
The Clarkson team has partnerships with other institutions that work with autistic children. Those partner institutions have taken saliva and blood samples from the kids and shipped them to Clarkson frozen.
Then the team here analyzes them using the mass spectrometer and other devices.
"There are certain proteins that are going to be, for example, very, very abundant in autism – and they almost don't exist in normal subjects – so that's how we identify what's the difference," Sokolowska says.
There are a few different theories about the root causes of autism. This team is looking into two, involving cholesterol levels and the immune system. In both cases, it looks like something about the proteins in autistic childrens’ blood and saliva might be different than those in normal children. They could have more or less of certain proteins, or their proteins might be altered in some way. The mass spectrometer, coupled with a software database, reveals these differences.
Early treatments
Alisa Woods says at the heart of her research is her commitment to advocating for early treatments for autistic children.
"I'm a big advocate of early intervention, basically because of my personal experience going through that with my son, who, you know, is on the spectrum," Woods says. "He was treated starting at 23 months, and I just thought it was transformative. I'm just amazed at how effective it is, and I would love to see more kids treated early."
The Clarkson team's work has supported the ideas that cholesterol processing and the immune system play a role in autism, and their results show differences in proteins in those systems in autistic children. They're developing a paper on their work so far, and will be submitting it within the next month.