Knowing early will help with preparedness.
A recent study conducted at the University of California, San Francisco (UCSF) suggests that early diagnosis of autism in children may be facilitated by examining their eye movements.
Researchers at UCSF identified a specific gene, SCN2A, that influences how children’s eyes respond when they turn their heads. This gene appears to amplify the vestibulo-ocular reflex, which helps coordinate sight with head movements. Children with autism exhibit an exaggerated form of this reflex, which can be detected through vision tests.
Kevin Bender, a professor at the UCSF Weill Institute for Neurosciences and co-author of the study, highlighted the potential significance of this finding for autism research and clinical practice. By measuring this reflex, researchers can assess children with autism who may have difficulty following instructions or communicating verbally.
The study initially observed the effects of the SCN2A gene variant in mice, where it disrupted the vestibulo-ocular reflex. Subsequent experiments involving children with autism and their unaffected siblings revealed distinct differences in reflex response.
Using CRISPR gene-editing technology, researchers were able to correct the faulty gene in mice, restoring the vestibulo-ocular reflex to normal levels. These findings, published in the journal Neuron, suggest a potential early intervention window for therapies targeting autism-related abnormalities in brain development.
Chenyu Wang, a graduate student at UCSF and first author of the study, emphasized the potential of this reflex as a biomarker for autism diagnosis and the development of future therapies. While the feasibility of applying CRISPR gene correction in humans remains uncertain, the eye-tracking test offers promise for diagnosing severe autism early on.
Bender expressed optimism about the broader adoption of this assessment tool, particularly for individuals with nonverbal autism. By providing a non-invasive and accessible method for early diagnosis, the test could significantly impact autism treatment and intervention strategies.
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