Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting around 1% of the population. We previously discovered that infant siblings of children with ASD had stronger pupillary light reflexes compared to low-risk infants, a result which contrasts sharply with the weak pupillary light reflex typically seen in both children and adults with ASD. Here, we show that on average the relative constriction of the pupillary light reflex is larger in 9–10-month-old high risk infant siblings who receive an ASD diagnosis at 36 months, compared both to those who do not and to low-risk controls. We also found that the magnitude of the pupillary light reflex in infancy is associated with symptom severity at follow-up. This study indicates an important role of sensory atypicalities in the etiology of ASD, and suggests that pupillometry, if further developed and refined, could facilitate risk assessment in infants.
Highlights
Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting around 1% of the population
We will report the results based on the combined EASE and BASIS samples, using three groups: 1) high risk infants later diagnosed with ASD (HR-ASD); 2) high risk infants who did not receive an ASD diagnosis at follow up (HR-no-ASD); 3) a control group of TD infants
Planned comparisons between groups showed that the HR-ASD group differed from the other groups: HR-ASD vs. TD, P = 0.001, 95% CI (0.087 to 0.307); HR-ASD vs. HR-noASD, P = 0.006, 95% CI (0.039 to 0.226); HR-no-ASD vs. TD, P = 0.122, 95% CI (−0.018 to 0.0.147)
Summary
Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting around 1% of the population. We recently discovered that unlike children and adults with an ASD diagnosis7,8, 10-month-old infants at high risk for ASD (due to having an older sibling with the disorder) had stronger PLRs than low-risk-control infants with no family history of ASD10. This finding raised the possibility that the PLR might associate with ASD, it might describe neurodevelopmental processes that are on an atypical trajectory in infants that will develop this disorder. We analyzed the pupil data longitudinally in infancy to see if we could find support for the presence of different developmental trajectories of the reflex in ASD vs. controls
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