Digital Phenotyping of Early Development in Neurogenetic Conditions - PROJECT SUMMARY/ABSTRACT This R01 application proposes to use a novel telehealth-based assessment protocol to collect high quality clinical, behavioral, and electrophysiological assays to characterize early course and predictors of clinical outcomes among young children with rare neurogenetic conditions (NGCs). Characterizing the earliest development of children with NGCs, including predictors of common comorbidities, is essential to developing evidence-based standards of care, identifying clinical treatment targets, and designing effective support programs. However, the assessment tools needed to monitor the early development of NGC patients are severely lacking, particularly for young children with severe sensorimotor or cognitive impairments. To address these gaps, PI Kelleher developed PANDABox (Parent Assisted Neurodevelopmental Assessment; K23MH111955), an open science, telehealth-based assessment protocol for collecting high quality, integrated clinical, behavioral, and spectral assays (e.g. heart activity, vocal patterns) from children with rare disorders. In contrast to standard neuropsychological assessments, PANDABox includes a series of classic “laboratory tasks” that are appropriate for a wide spectrum of abilities and are administered by caregivers in the family home. Now, what is lacking is a large corpus of natural history data, collected using PANDABox, that can be harvested to identify the most valid, reliable, and feasible assays for clinical monitoring of NGCs. To address this need, the present proposal will deploy PANDABox in a large, cross-syndrome, longitudinal cohort of young children with NGCs to generate a large corpus of natural history data that will be used to identify reliable and valid assays that distinguish early developmental profiles in 6-42 month old children with and without rare NGCs, and that predict variability in community-prioritized clinical outcomes. If funded, this project will improve the human condition by deploying accessible, patient-centered telehealth assays that have potential to radically shift the status quo for developmental surveillance in young NGC patients, including those who are geographically distributed or marginalized, setting the stage for improved clinical outcomes for children with NGCs and their families.
