Israeli and US scientists make possible autism diagnosis breakthrough

Israeli and American scientists may have discovered a tell-tale sign of autism after a huge data crunch showed that some had abnormal levels of fats in the blood.

The findings are detailed this week in the Nature Medicine journal after work from the joint team of biomedical informaticians at Ben-Gurion University in the Negev, Harvard, MIT, Northwestern and Boston Children’s Hospital.

They ran the numbers on vast amounts of genetic data concerning children with autism spectrum disorder (ASD) and discovered that about five percent also had dyslipidemia, or high cholesterol – a finding that may help future diagnosis.

It was already known that between five and 30 percent of children with ASD also suffer from epilepsy, and this new finding will aid clinicians in diagnosis, which is notoriously difficult from children aged 3-4 years.

Around 80 percent of ASD diagnoses are in boys, so the study, led by BGU’s Dr Alal Eran, narrowed down the data by focusing on genes that function together during early brain development in a different way between males and females. Researchers also looked at mutations shared between siblings of the same family.

“Biomedical informatics is a relatively new field whose advantages are becoming apparent,” said Eran. “

Analysis of large amounts of diverse data led us to this exciting discovery of a previously unrecognised ASD subtype. It brings us a step closer to precision medicine for ASD.”