There are currently no available evaluation tools specifically designed for online, rapid and repeated evaluation of multiple neurobehavioral domains important to people with autism spectrum disorder (ASD) and related neurodevelopmental genetic syndromes. To address this measurement gap and provide initial feasibility and psychometric data, Thomas Frazier and colleagues plan to focus on the following aims:

Aim 1. Develop and psychometrically evaluate multiple performance-based gaze and facial expression measures, including measures of social and joint attention, receptive language and single-word reading;

Aim 2. Conduct syndrome and ASD group comparisons;

Aim 3. Evaluate test-retest stability of online performance measures and describe neurobehavioral change within and across syndromes.

The study will be performed in two phases. The first phase involves recruiting 15 to 20 caregiver-participant pairs to pilot test an online performance measurement battery. This pilot will evaluate the feasibility of administering five to seven one-minute stimulus segments and whether task items provide good coverage of the expected ability ranges (severely impaired to low average ability).

Once the final performance battery stimulus segments are identified, the second phase will recruit approximately 80 participants from Simons Searchlight using the Research Match program. Recruitment will focus on individuals in the severely affected to low average ability ranges and emphasize people with ADNP, PTEN and SYNGAP1 syndromes. The performance battery is expected to include stimuli evaluating six cognitive processes: receptive language, sustained attention, social attention, joint attention, processing speed and single-word reading.

Given the one-year timeframe of the current study, data collection will occur at a single time point, following up with a subset of approximately 40 individuals at one and four months post-baseline to collect information on short-term reproducibility and longer-term stability. Gaze and facial expression measures will be collected via a webcam for each stimulus, including temporally defined areas of interest within each stimulus, to compute measures assaying different cognitive functions.

Findings from this study are expected to provide key initial validation data on the potential of these online measures to evaluate performance in neurobehavioral domains relevant to ASD. Such an outcome would provide an initial step toward future large-scale adoption in clinical practice.