Can a Simple Eye Test Detect Autism?

Investigators have discovered a new way to test for autism by assessing how a child’s eyes move when they turn their head. They uncovered a gene variant that is correlated with severe autism and also hypersensitive to this motion. The findings were published in Neuron.

Researchers noted this discovery could help advance research on autism, a developmental disorder that affects 1 out of every 36 children in the United States. Moreover, the breakthrough could result in earlier diagnosis.

“We can measure it in kids with autism who are nonverbal or can’t or don’t want to follow instructions,” said Kevin Bender, PhD, a professor at the UCSF Weill Institute for Neurosciences and co-senior author of the study, via a press release. “This could be a game-changer in both the clinic and the lab.”

Mouse Model Translates Well to Children With Autism

The investigators uncovered a variant of the SCN2A gene that was easy to measure in mice. To determine if it would translate to humans, they tested an eye-tracking camera mounted on a helmet. Chenyu Wang, PhD, a UCSF graduate student in Dr. Bender’s lab and first author of the study, called the attempt a “shot in the dark.” Fortunately, the shot hit its target. Scientists were able to discern an unusual form of the reflex that stabilizes the gaze while the head is moving, the vestibulo-ocular reflex (VOR), in children with autism by measuring how much their eyes moved in response to their head rotation.

The First Steps Toward a Cure?

Following their positive discovery, researchers wanted to see if they could restore the normal eye reflex in mice with a CRISPR-based technology that restored SCN2A gene expression in the cerebellum. They treated 30-day-old SCN2A mice—equivalent to late adolescence in humans—and found that VOR became less rigid but was still unusually sensitive to body motion. However, when they treated 3-day-old SCN2A mice—equivalent to early childhood in humans—their eye reflexes were completely normal.

“These first results, using this reflex as our proxy for autism, point to an early window for future therapies that get the developing brain back on track,” Dr. Wang said.

The researchers stressed that it is too early to know if this approach might someday be used to treat autism, but they are hopeful. According to Dr. Bender, “If this sort of assessment works in our hands, with kids with profound, nonverbal autism, there really is hope it could be more widely adopted.”

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