Development of the pupillary light reflex from 9 to 24 months: association with common ASD genetic liability and 3-year ASD diagnosis

BASIS/STAARS Team (2021) Development of the pupillary light reflex from 9 to 24 months: association with common ASD genetic liability and 3-year ASD diagnosis. Journal of Child Psychology and Psychiatry, 62 (11). pp. 1308-1319. ISSN 0021-9630

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Background: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype.  Methods: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS ASD) were calculated for 190 infants.  Results: While infants showed a decrease in latency between 9 and 14 months, higher PGS ASD was associated with a smaller decrease in latency in the first year (β = −.16, 95% CI = −0.31, −0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative ‘catch-up’) between 14 and 24 months relative to those with other outcomes (typical: β =.54, 95% CI = 0.08, 0.99; other: β =.53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (β =.08, 95% CI = 0.01, 0.14) and RRB (β =.05, 95% CI = 0.004, 0.11) traits.  Conclusions: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations.

Item Type: Article
Additional Information: Special Issue: Genetics and Genomics of Autism Spectrum Disorders Funding Information: This work was funded by the Simons Foundation Autism Research Initiative (SFARI) Pilot Award grant no. 511504; European Union's Horizon 2020 research and innovation programme under the Marie Skłodowska‐Curie grant no.642996 (BRAINVIEW). L.A.F. was funded by the SGDP Studentship award. Data collection was funded by MRC Programme grant nos. G0701484 and MR/K021389/1, the BASIS funding consortium led by Autistica (, EU‐AIMS and AIMS‐2‐TRIALS programmes funded by the Innovative Medicines Initiative (IMI) Joint Undertaking Grant Nos. 115300 (M.H.J., T.C.) and No. 777394 (M.H.J., E.J.H.J. and T.C.; European Union’s FP7 and Horizon 2020, respectively). This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme, with in‐kind contributions from the European Federation of Pharmaceutical Industries and Associations (EFPIA) companies and funding from Autism Speaks, Autistica and SFARI. High performance computing facilities at KCL (ROSALIND) were funded with capital equipment grants from the GSTT Charity (TR130505) and Maudsley Charity (980). The authors acknowledge the contribution of the NIHR BioResource Centre Maudsley, National Institute for Health Research Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London.
Uncontrolled Keywords: autism spectrum disorder,infancy,neurodevelopment,pupillary light reflex,pediatrics, perinatology, and child health,developmental and educational psychology,psychiatry and mental health,sdg 3 - good health and well-being ,/dk/atira/pure/subjectarea/asjc/2700/2735
Faculty \ School: Faculty of Social Sciences > School of Psychology
UEA Research Groups: Faculty of Social Sciences > Research Groups > Developmental Science
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Depositing User: LivePure Connector
Date Deposited: 02 Sep 2021 00:18
Last Modified: 03 Nov 2022 16:33
DOI: 10.1111/jcpp.13518


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