Researchers have discovered a new avenue for diagnosing autism spectrum disorder in young children and non-verbal individuals. Children carrying a gene associated with severe autism show hypersensitivity to head rotation, which can be detected through monitoring their ocular reflexes. Existing diagnostic methods may be challenging in these cases, but genetic therapy could potentially allow for early treatment of this trait in the future.
A study published in the journal Neuron explored how autism can be detected in children by tracking their ocular reflexes. Children with the autism-linked gene SCN2A exhibit hypersensitivity to head rotation, leading them to compensate for this movement by turning their eyes. By using a helmet-mounted system to track their eye movements, diagnosing autism becomes more feasible.
Researchers at the University of California, San Francisco have been studying how sensory reflexes are impaired in individuals with SCN2A-associated ASD. The study found that children with severe SCN2A-related autism exhibit a distinct compensatory reflex in their eye movements, which is measurable and noticeable. By utilizing a helmet-mounted eye-tracking camera, researchers were able to observe and quantify these reflexes in children with the gene variant.
The study also investigated the potential for restoring normal eye reflexes in mice with the SCN2A gene variant using genetic engineering. By restoring the expression of the SCN2A gene in the cerebellum of mice, researchers were able to normalize their eye reflexes. This therapy showed promise in mice at an early age equivalent to childhood in humans, suggesting a potential path for future treatments targeting the developing brain.
While a cure for autism is still far off, these findings offer valuable insights into the genetics and neurological mechanisms underlying the condition. By continuing to explore these pathways, scientists may eventually develop targeted therapies to help individuals with autism lead more fulfilling lives.
