Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes

Abstract

This study focused on the development and initial psychometric evaluation of a set of online, webcam‐collected, and artificial intelligence‐derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testing and qualitative input was used to develop four stimulus paradigms capturing social and cognitive processes, including social attention, receptive vocabulary, processing speed, and single‐word reading. The paradigms were administered to a sample of 375 participants, including 163 with NDGS, 56 with idiopathic neurodevelopmental disability (NDD), and 156 neurotypical controls. Twelve measures were created from the four stimulus paradigms. Valid completion rates varied from 87 to 100% across measures, with lower but adequate completion rates in participants with intellectual disability. Adequate to excellent internal consistency reliability (α = 0.67 to 0.95) was observed across measures. Test–retest reproducibility at 1‐month follow‐up and stability at 4‐month follow‐up was fair to good (r = 0.40–0.73) for 8 of the 12 measures. All gaze‐based measures showed evidence of convergent and discriminant validity with parent‐report measures of other cognitive and behavioral constructs. Comparisons across NDGS groups revealed distinct patterns of social and cognitive functioning, including people with PTEN mutations showing a less impaired overall pattern and people with SYNGAP1 mutations showing more attentional, processing speed, and social processing difficulties relative to people with NFIX mutations. Webcam‐collected performance measures appear to be a reliable and potentially useful method for objective characterization and monitoring of social and cognitive processes in NDGS and idiopathic NDD. Additional validation work, including more detailed convergent and discriminant validity analyses and examination of sensitivity to change, is needed to replicate and extend these observations.

Visual social attention in SYNGAP1‐related intellectual disability

“…While many SYNGAP1-ID participants had difficulty with the calibration process, as well as maintaining attention and interest throughout the task, we nevertheless successfully managed to obtain data from these participants. The possibility of remote eye tracking, which could be done via a tablet or remote webcam software in the participants own home, may help in future to improve inclusion numbers (Frazier et al, 2023). In addition, creating more tailored tasks to individual interests, although introducing variability, may allow a greater retention of participants and thus allow for more meaningful conclusions to be extracted about this group.…”

“…Eye tracking has been used to examine social differences in autism more broadly, but there has only been a limited investigation into these skills for those with SYNGAP1-ID. The only SYNGAP1-ID eye tracking study to date to examine social attention showed that these individuals demonstrated significant reductions in overall attention, attentional scanning, social attention and slower speed to faces and objects, as well as increases in nonsocial preference relative to typically developing controls (Frazier et al, 2023). In regards to ASD, metaanalytic findings of social attention in ASD have revealed that individuals with ASD spend less time looking at social stimuli (Chita-Tegmark, 2016) with this most affected for stimuli that had a high social content (e.g., showing more than one person (Chita-Tegmark, 2016)).…”