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A new study published in the journal Neuron has revealed that children carrying a gene linked to severe autism exhibit hypersensitivity to head rotation. This trait presents a unique opportunity for the quick diagnosis of autism spectrum disorder, particularly in young or non-verbal children who are challenging to diagnose using current methods.

Researchers at the University of California, San Francisco have developed an innovative method to detect autism in children by monitoring their eye reflex. Children with the autism-linked gene SCN2A show hypersensitivity to head rotation, causing their eyes to compensate for the movement by turning along with their heads. This is in contrast to typical individuals, whose eyes usually remain stationary when the head is turned. By utilizing a helmet-mounted eye-tracking camera, clinicians can easily track the ocular reflex in such children, especially those who are non-verbal or have difficulty following instructions.

The study focused on the vestibulo-ocular reflex (VOR), which helps stabilize the eyes during head movements. By investigating the effect of the SCN2A gene variant on the mouse cerebellum, researchers found that mice with this gene variant displayed compensatory eye movements when turned in one direction. Similarly, children with severe SCN2A autism exhibited this reflex, which was easily measurable using eye-tracking technology.

Further research involved testing genetic engineering techniques to restore normal eye reflexes in mice with the SCN2A gene variant. While therapy was successful in reverting eye reflexes to normal in younger mice, older mice remained hypersensitive to body movements. Although a cure for autism remains elusive, these findings are promising for developing treatments that support proper brain development in affected individuals.

In conclusion, researchers have discovered a new way of detecting autism spectrum disorder by monitoring ocular reflexes in children carrying a gene linked to severe autism. The study’s findings could pave the way for early diagnosis and treatment of this condition and offer hope for improving outcomes for affected individuals and their families.

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