Researchers Propose New Subtype of Autism Spectrum Disorder

A group of scientists crunched massive amounts of data about children with autism spectrum disorder (ASD) in the US and discovered that some of them also had dyslipidemia, abnormal levels of fats in the blood.

ASD is diagnosed behaviorally usually at about 3-4 years of age and the genetic causes of most cases have not yet been identified. However, if a medical finding can be linked to future ASD symptoms, then medical observation might enable earlier diagnosis. The earlier the diagnosis, the better children respond to behavioral treatments.

Dyslipidemia was found to affect 5% of children with ASD. In comparison, one of the most common comorbidities of ASD is epilepsy, which affects 5-30% of children with ASD.

The study was conducted by Dr. Alal Eran (pictured above) of the Department of Life Sciences​ at Ben-Gurion University of the Negev and her colleagues from Harvard Medical School, MIT, Boston Children’s Hospital and Northwestern University.

Their findings were published in Nature Medicine.

Dr. Eran is also a member of BGU’s National Autism Research Center of Israel and affiliated with Boston Children’s Hospital and Harvard Medical School.

The team integrated whole exome sequencing, covering 1% of the human genome that codes proteins, with neurodevelopmental gene expression patterns, electronic health records, and healthcare claims. Since ASD is thought to arise during early brain development and because boys make up 80% of children diagnosed with ASD, the researchers narrowed down the data by focusing on genes that function together during early brain development in a different way between males and females, They further focused on mutations that are shared between multiple affected siblings of the same family, and those that are different between affected and unaffected siblings, and found that many of them affect lipid regulation functions.

By analyzing the medical records of millions of kids treated at Boston Children’s Hospital and cross checking their data through healthcare claims, they discovered that dyslipidemia kept coming up. Dyslipidemia can be hereditary and many more parents of children with ASD had been diagnosed than parents of children without ASD.

“Biomedical informatics is a relatively new field whose advantages are becoming apparent. Analysis of large amounts of diverse data lead us to this exciting discovery of a previously unrecognized ASD subtype. Our discovery brings us a step closer to precision medicine for ASD,” says Dr. Eran.