In April 2021, we announced the recipients of our 2020 Small Grants Program aimed at advancing the clinical, educational, research, and/or advocacy missions of our department. We were able to allocate nearly $ 100,000 to a terrific set of diverse, one-year proposals from faculty, staff and trainees on a wide range of topics. This is the final report for the “Engaging families of children with rare genetic disorders via a novel online platform” project led by Kaitlyn Ahlers, PhD, and Eva Kurtz-Nelson, PhD.

Summary of the work completed
We used an online app, Groopit, as a secure data collection tool to engage families of children with CHD8 mutations. This project utilized a participatory approach, operating from the framework that incorporating stakeholders as collaborators helps to ensure that research yields meaningful benefits to the community being studied (Fletcher-Watson et al., 2019). Through an established Facebook group for CHD8 (141 members), we enrolled families in the Groopit platform and collected baseline data to further characterize our sample. Thirty-four families expressed interest in enrolling with Groopit, and 27 of those families created Groopit pages. Through Groopit, we surveyed families to better understand their research priorities and interests.

From demographic information provided via the welcome survey and other reports, we learned that our online CHD8 community consisted of 19 families of individuals with a CHD8 mutation. Individuals with CHD8 mutations ranged in age from 2 years to 24 years and identified as male (n = 10; 52.6%) and female (n = 9; 47.4%). This fits with what we know about CHD8, which suggests that boys and girls are equally likely to have a genetic change in the CHD8 gene. We had families across the United States and the Netherlands participate, highlighting the benefit of using an online platform to connect with families across the globe. Of the families who provided diagnostic data, 72.7% of individuals with CHD8 mutations had autism spectrum disorder diagnoses and 90.9% reported an intellectual disability or global developmental delay diagnosis.

Based on the response to the initial surveys, our families indicated that their reason for joining the Groopit page was for “us [parents] and the world to learn more about the CHD8 mutation.” They also identified sleep concerns as the topic about which they would like to learn more. Therefore, we conducted two separate sleep “deep dives” with the goal of receiving seven consecutive days of reports. Another topic of interest to our CHD8 community was caregiver stress; therefore, we also launched two surveys, one of which focused on parental stress related to rare genetic disorders (Genetic Syndromes Stressors Scale; Griffith et al., 2011) and another about caregiver resilience (Positive Gain Scale; Pit-ten Cate, 2003). These data were summarized for families on the Groopit page as well as presented as a poster at the 2021 International Society for Autism Research (INSAR) conference (Ahlers et al., 2021).

The primary goal of this project was to engage more families of children with ASD and CHD8 mutations with the Groopit platform and to empower families to be partners in research. While we successfully enrolled a subset of families from the CHD8 Facebook group in the Groopit platform and collected data on several topics of interest to families (e.g., sleep, caregiver stress and resilience), we had difficulty sustaining engagement and survey participation. While initial enthusiasm appeared high, as 19 of our 27 enrolled families completed the initial welcome survey (some more than once), when we launched the subsequent surveys, only 7-9 families completed reports. This was with offering incentives for survey completion. At the conclusion of the study, we launched a brief 10-question usability survey requesting feedback on families’ experiences with the Groopit platform without an incentive offered, and we received no responses.

What did you learn because of this work?
We learned that families of individuals with CHD8 mutations are eager to engage and partner in online research, as demonstrated by high initial enrollment and engagement in early surveys. In addition, we were able to gather information from families about their research priorities and use this information to drive collaborative research activities. However, use of the Groopit platform did not result in sustained engagement over time. The platform required families to log in to a separate website or app to provide data and navigate an unfamiliar data reporting interface, which we believe presented a barrier to continued engagement. To summarize, we learned that while online participatory research is feasible and of interest to the CHD8 community, a more user-friendly or lower barrier data collection process will be needed for future research efforts.

What future activities might result from this award?
We appreciated the opportunity to pilot the Groopit online platform with families of individuals with CHD8 mutations. Given the rarity of the CHD8 mutation, families affected by CHD8 are geographically dispersed across the globe. While the Groopit platform was not easy to use or successful in sustaining family engagement, we were able to successfully collect online, real-time data, which is significantly less disruptive to families and more cost-effective than in-person phenotyping. Our lab is interested in using an alternative secure, HIPAA-compliant data collection tool (e.g., RedCAP) to distribute online surveys to CHD8 families. We plan to continue to use a participatory framework to engage with CHD8 families and the families of children with other rare genetic disorders, as our understanding of research priorities in this community is limited. In addition, from the information families shared via Groopit, we learned that one of their primary sources of stress is their child’s future receipt of services (e.g., services available in adulthood). Beyond continuing to advance research on CHD8, our lab could produce practical resources (e.g., CHD8-specific information packets for providers) for families and continue to partner with families to be responsive to their priorities and needs. Finally, we are currently analyzing the sleep data provided by families and will integrate these data into future publications examining genetic mechanisms of sleep problems in CHD8 and autism spectrum disorder.