CHICAGO – A novel precision medicine approach, enhanced by artificial intelligence, has laid the groundwork for what could be the first biomedical screening and intervention tool for a subtype of autism, according to a new study.
The subtype of the disorder studied by researchers from Northwestern University, Ben-Gurion University of the Negev, Harvard University and the Massachusetts Institute of Technology is known as dyslipidemia-associated autism, which represents 6.55 percent of all diagnosed autism spectrum disorders in the United States.
The study’s co-first author Yuan Luo, associate professor of preventive medicine at NU’s Feinberg School of Medicine, says: “This discovery was like finding a needle in a haystack, as there are thousands of variants in hundreds of genes thought to underlie autism, each of which is mutated in less than 1 percent of families with the disorder.
“We built a complex map, and then needed to develop a magnifier to zoom in,” Luo says.
To build that magnifier, the researchers identified clusters of gene exons that function together during brain development. They then used a state-of-the-art AI algorithm graph clustering on gene expression data.
“The map and magnifier approach showcases a generalizable way of using multiple data modalities for subtyping autism,” says Luo. “And it holds the potential for many other genetically complex diseases to inform targeted clinical trials.”
Using the tool, the researchers also identified a strong association of parental dyslipidemia with autism spectrum disorder in the children. They further saw altered blood lipid profiles in infants later diagnosed with autism spectrum disorder.
The findings are leading the researchers to pursue subsequent studies, including clinical trials that aim to promote early screening and early intervention of autism.
“Today, autism is diagnosed based only on symptoms, and the reality is when a physician identifies it, it’s often when early and critical brain developmental windows have passed without appropriate intervention,” says Luo. “This discovery could shift that paradigm.”
Autism affects an estimated 1 in 54 children in the US, according to the Centers for Disease Control and Prevention. Boys are four times more likely than girls to be diagnosed.
The findings were published recently in Nature Medicine.