Editors' ChoiceAutism

Opening the eyes on autism

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Science Translational Medicine  23 May 2018:
Vol. 10, Issue 442, eaat8532
DOI: 10.1126/scitranslmed.aat8532

Abstract

Nine- to 10-month-old infants who develop autism show early enhanced pupillary light reflex compared with infants who did not develop autism.

Currently there are limited measures to reliably detect autism in the first year of life, as behavioral symptoms typically emerge during the second year. Previous work demonstrated a link between pupillary light reflex and risk of developing autism in infants. However, whether the pupillary response could be a diagnostic tool for predicting autism was unknown. Nyström et al. compared pupillary light reflex between infants who later go on to develop autism with toddlers who did not receive a diagnosis. 187 infants at 9 or 10 months of age had their pupillary responses recorded and at age 3 had follow-up diagnostic assessments for autism. 29 subjects were diagnosed with autism compared with 118 toddlers who had a sibling with autism but did not receive a diagnosis and 40 typically developing toddlers who did not have a sibling with autism. Patients with autism had higher pupillary light reflex responses at 9 or 10 months, compared with the two other groups. The pupillary response correlated with severity of social symptoms in autism but did not correlate with restricted and repetitive behaviors at age 3. These findings suggest that pupillometry may be used to detect early abnormal brain development in children who later develop autism, as well as the emergence of atypical sensory processing prior to the manifestation of behavior symptoms. Future mechanistic work in animal models and human studies will be important to determine the molecular and neural systems driving the response. A limitation of the work was that data were collected across two sites with different methodology, thus making replication important. Broadly, this work has significant implications for refining our understanding of varying developmental trajectories in autism. Further, the data provide compelling support for new measures of early autism detection.

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