Groopit: An Innovative Platform to Speed up Rare Genetic Disorder Research

Background: One of the most prevalent disruptive single gene mutations strongly associated with Autism Spectrum Disorder (ASD) is CHD8 (Bernier, 2014). Due to the rarity of this mutation, families affected by CHD8 are geographically widespread and use social media, such as Facebook, as a community engagement tool to share experiences and symptoms. For example, aligned with scientific literature (Bernier, 2014), sleep issues are noted by parents as a problem in CHD8, however very little is known about the extent to which these problems interfere with daily life. A new mobile platform, GroopIt (letsgroopit.com), may be a useful data collection tool to research the CHD8 phenotype at a faster pace than traditional research methods by reporting and tracking behaviors in real time.

Objectives: 1) To identify and characterize common sleep issues for individuals with CHD8 to further understand the CHD8 phenotype. 2) To evaluate parental engagement in fast-paced research via an online tool.

Methods: Parents from the CHD8 Facebook group were invited to join the CHD8 GroopIt. Parents posted real-time observations every day for one month (30 days) regarding characteristics of their child’s sleep from the previous night (see figure 1). Analyses were run on the number of instances behaviors were reported as well as how many children experienced the behavior at all. We measured parental engagement by computing the number and frequency of responses over the 30-day period.

Results: Eight families (n=8) participated in the 30-day sleep tracker on GroopIt with at least one response; 63% of those families (n=5) were active participants with over 15 responses. At the end of the study, 159 responses were recorded for 8 children with CHD8 (see figure 2). Sleep issues with the highest reported prevalence include: difficulty falling to/back to sleep (n=7, 88%), waking up in the middle of the night or very early in the morning (n=6, 75%), waking up crying and/or screaming (n=5, 63%), and sleep quality disturbances (e.g., restless sleep, nightmares; n=5, 63%).

Conclusions: This pilot study highlights the GroopIt platform as a successful research initiative to better outline the phenotype of rare genetic events of geographically dispersed individuals by virtually collecting relevant data longitudinally. We were able to track 159 nights of sleep behavior for 8 children with CHD8 over 30 days. Our findings expand the existing literature by identifying specific areas of sleep concern for children with disruptive mutations to CHD8 (e.g., problems falling and staying asleep, waking up early). This highlights particular areas for intervention to address difficulties with sleep. The response rate also shows that mobile platforms provide a useful medium for parental engagement in collecting key phenotypic information.