A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Summer, 2020 | Number 3, Volume 34

Researchers detect autism subtype involving lipids

By combining multiple sources of data, researchers in the U.S. and Israel have identified a form of autism characterized by abnormal levels of fat molecules in the blood. 

Isaac Kohane and colleagues, including first author Yuan Luo, began by obtaining data on the expression patterns of exons (areas of genes that encode for proteins) that function together during prenatal brain development. In particular, they focused on exon clusters that are expressed differently between males and females, because autism is more common in males. They then used a separate database to identify autism-related mutations in the exons of individuals with ASD. 

The researchers found 33 exon clusters that overlapped between the sets of data and discovered that some of the clusters contained exons involved in regulating fatty molecules called lipids. The researchers next analyzed nearly 3 million medical records from patients at Boston Children’s Hospital and found that as a group, children with ASD exhibited unusual blood lipid profiles compared to controls. Finally, the researchers analyzed healthcare claims for more than 34 million people, and found that 6.6% of people with ASD have dyslipidemia (abnormal lipid levels). They also found that parents with a history of dyslipidemia have up to 16% higher odds of having children with ASD. 

Luo comments, “Previously, autism subtypes have been defined based on symptoms only—autistic disorder, Asperger syndrome, etc.—and they can be hard to differentiate as it is really a spectrum of symptoms. The autism subtype characterized by abnormal levels identified in this study is the first multidimensional evidenced-based subtype that has distinct molecular features and an underlying cause.”


“A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia,” Yuan Luo, Alal Eran, Nathan Palmer, Paul Avillach, Ami Levy-Moonshine, Peter Szolovits, and Isaac S. Kohane, Nature Medicine, August 10, 2020 (epub prior to print publication). Address: Isaac Kohane, Department of Biomedical Informatics, 10 Shattuck Street Suite 514, Boston, MA 02115. 


“Blood lipid levels may be altered in some autistic people,” Jonathan Moens, Spectrum News, August 10, 2020. 


“AI-enhanced precision medicine identifies novel autism subtype,” news release, Northwestern University, August 10, 2020. 


“New subtype of autism related to fat levels identified by Israeli-US team,” Rossella Tercatin, Jerusalem Post, August 13, 2020.