Researchers at UC San Francisco may have uncovered a groundbreaking method for diagnosing autism by monitoring the eye movements of children when they turn their heads.
The study focused on children with a gene mutation associated with severe autism, known as SCN2A. This gene produces an ion channel found throughout the brain, including in the cerebellum, which coordinates movement. Variants of this gene are also linked to severe epilepsy and intellectual disability.
The researchers observed that children with these variants exhibited an unusual form of the vestibulo-ocular reflex (VOR), a reflex that stabilizes gaze during head movement. In children with autism, this reflex appeared to be hypersensitive, a trait that could be measured using a simple eye-tracking device.
This discovery could significantly advance autism research and aid in earlier and faster diagnosis using a non-invasive method that only requires children to wear a helmet and sit in a chair.
“We can measure it in kids with autism who are non-verbal or can’t or don’t want to follow instructions,” said Kevin Bender, a professor at UCSF Weill Institute for Neurosciences and co-senior author of the study. “This could be a game-changer in both the clinic and the lab.”
The study also found that a CRISPR-based technology could potentially restore normal eye reflexes in mice with the SCN2A gene mutation, suggesting a potential avenue for future therapies targeting early childhood.
While further research is needed to determine the feasibility of directly treating autism with this approach, the eye reflex test could streamline autism diagnosis and provide hope for families navigating the diagnostic process.
“If this sort of assessment works in our hands, with kids with profound, nonverbal autism, there is hope it could be more widely adopted,” Bender added.