Angelman Syndrome Video Assessment (ASVA) Source Material Study

This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads. The study includes no treatments or interventions, and participants will not be asked to change their current treatments. The objective of this study is to gather sufficient source material videos to develop a scoring system for ASVA and to perform preliminary validation of that scoring system.

Caregiver reports that the individual with AS has a laboratory-confirmed diagnosis of Angelman syndromeIndividual with AS is at least 1 year oldCaregiver is willing and able to provide informed consent for themselves and oversee study participationCaregiver or legal guardian is willing to provide informed consent on behalf of the individual with ASCaregiver is comfortable reading and speaking in EnglishCaregiver has access to a smartphone or tablet that is compatible with the study app OR caregiver has internet access and is willing to use a wi-fi only device to record and upload videosNT-Caregiver dyads will be eligible for inclusion if the:Neurotypical individual is between 1 and 8 years of ageCaregiver is willing and able to provide informed consent and oversee study participation and NT individual is willing and able to provide assent, as applicableCaregiver is comfortable reading and speaking in EnglishCaregiver has access to a smartphone or tablet that is compatible with the study app OR caregiver has internet access and is willing to use a wi-fi only device to record and upload videos Participant-Caregiver dyads will be excluded from the study only if they do not meet the inclusion criteria above.