Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis.

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 (PGSASD ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGSASD was associated with a smaller decrease in latency in the first year (ß = -.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: ß = .54, 95% CI = 0.08, 0.99; other: ß = .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 (ß = .08, 95% CI = 0.01, 0.14) and RRB (ß = .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.

A survey on the attitudes of parents with young children on in-home monitoring technologies and study designs for infant research.

Remote in-home infant monitoring technologies hold great promise for increasing the scalability and safety of infant research (including in regard to the current Covid-19 pandemic), but remain rarely employed. These technologies hold a number of fundamental challenges and ethical concerns that need addressing to aid the success of this fast-growing field. In particular, the responsible development of such technologies requires caregiver input. We conducted a survey of the opinions of 410 caregivers on the viability, privacy and data access of remote in-home monitoring technologies and study designs. Infant-friendly wearable devices (such as sensing body suits) were viewed favourably. Caregivers were marginally more likely to accept video and audio recording in the home if data was anonymised (through automated processing) at point of collection, particularly when observations were lengthy. Caregivers were more open to international data sharing for anonymous data. Caregivers were interested in viewing all types of data, but were particularly keen to access video and audio recordings for censoring purposes (i.e., to delete data segments). Taken together, our results indicate generally positive attitudes to remote in-home monitoring technologies and studies for infant research but highlight specific considerations such as safety, privacy and family practicalities (e.g. multiple caregivers, visitors and varying schedules) that must be taken into account when developing future studies.

Have I grooved to this before? Discriminating practised and observed actions in a novel context.

Learning a new motor skill typically requires converting actions observed from a third-person perspective into fluid motor commands executed from a first-person perspective. In the present study, we test the hypothesis that during motor learning, the ability to discriminate between actions that have been observed and actions that have been executed is associated with learning aptitude, as assessed by a general measure of physical performance. Using a multi-day dance-training paradigm with a group of dance-naïve participants, we investigated whether actions that had been regularly observed could be discriminated from similar actions that had been physically practised over the course of three days, or a further set of similar actions that remained untrained. Training gains and performance scores at test were correlated with participants' ability to discriminate between observed and practised actions, suggesting that an individual's ability to differentiate between visual versus visuomotor action encoding is associated with general motor learning.