New subtype of autism related to fat levels identified by Israeli-US team

Parents could undergo genetic screening to detect their predisposition to pass lipid disorders to children, since individuals can carry conditions without being aware of it.

Susana Cristo Anzola is pulled by her daughter Olivia, a 4-year-old on the autism spectrum, to enter a closed playground during the lockdown amid the coronavirus disease (COVID-19) outbreak in Madrid, Spain, April 9, 2020. (photo credit: REUTERS/SUSANA VERA)
Susana Cristo Anzola is pulled by her daughter Olivia, a 4-year-old on the autism spectrum, to enter a closed playground during the lockdown amid the coronavirus disease (COVID-19) outbreak in Madrid, Spain, April 9, 2020.
(photo credit: REUTERS/SUSANA VERA)
A new subtype of autism spectrum disorder connected to abnormal levels of lipids in the blood has been identified by a team of Israeli and American researchers.
“We are all computer nerds, and we like to let the data speak for itself,” Dr. Alal Eran of Ben-Gurion University of the Negev’s Department of Life Sciences and co-author of the study published in the journal Nature Medicine last week, told The Jerusalem Post.
“We were interested in understanding the different causes of autism, which is a wild variety of neuro-developmental disorders characterized by the same symptoms that we all refer to in the same way because we do not really understand them,” she said.
“Our idea was based on the notion that by integrating lots of different data – including biological, genomic, proteomic, clinical – from a large enough cohort of people, we might get insights on the different subtypes that characterize this very heterogenous group we now call autism,” she added.
The group comprised researchers from Harvard Medical School, MIT, Boston Children’s Hospital and Northwestern University. It employed artificial intelligence and machine-learning methods to analyze medical insurance claims from 34 million individuals in the US, as well as from three million patients at Boston Children’s Hospital.
“We let the data reveal the different subtypes of this complex phenomena,” Eran said. “We had no prior hypothesis that lipid elements would be implicated. The data showed us that, and then we validated it.”
The study showed that about 6.5% of those affected by autism presented abnormal lipid levels in the blood, or dyslipidemia. Moreover, it emerged that they inherited genetic mutations from their parents that predisposed them to these irregularities.
“This means it cannot be assumed that controlling one’s diet would have an impact on the chances to develop autism, as some may think,” Eran said. “It is important to emphasize the strong genetic element that predisposes one to abnormal lipid levels and is related to abnormal brain development that increases the risk of autism.”
At this stage, no causality claim has been proposed in the research.
“We need further examinations, but there are elements that allow us to say this is not just a random correlation – the fact that it is a genetic mutation and not the result of factors like taking a certain medication or eating habits.” Eran said. “Moreover, we could see that when we engineered specific genes to introduce lipid irregularities in mice, brain-development irregularities also appeared.”
Even though further research is necessary to deepen the understanding of the phenomena, the discovery potentially has far-reaching implications.
Children at a very young age could be tested to identify lipid irregularities that could lead to diagnosing a level of autism and allow a child to start treatment earlier, which would increase its effectiveness.
Moreover, parents could undergo genetic screening to detect their predisposition to pass lipid disorders to children, since as it often happens with genetic issues, individuals can carry a condition without being aware of it.
“We are now planning our next steps and random-controlled studies to test the information,” Eran said. “We are very excited about this research, but we are still far from making any clinical recommendation. We need more work for that.”