ESPE Abstracts

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.

Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experienced by these caregivers. Eligible respondents were adult caregivers who had cared for ≥6 months individuals with BBS who had obesity or were in the ≥95th weight percentile and hyperphagia (”uncontrollable hunger”). The survey included several observer- and caregiver-reported instruments, such as the Revised Impact on Family Scale (RIOFS; score range, 6-24 and 9-36 for personal strain and familial/social impact domains, respectively, with higher scores indicating greater impact), the Impacts of Hyperphagia (IOH) scale, PROMIS® Global Health 1.2, and Work Productivity and Activity Impairment (WPAI).

Results: In total, 242 caregivers from Canada, Germany, the United Kingdom, and the United States met the inclusion criteria and completed the survey. The mean (standard deviation [SD]) age of the caregivers was 41.9 (6.7) years, and the mean (SD) age of individuals with BBS in their care was 12 (3.7) years. On average, caregivers used 8 different weight management approaches for those in their care and expressed a strong desire for more effective weight management methods. From the IOH, caregivers reported hyperphagia experienced by persons with BBS had a moderate-to-severe impact on their own mood (56.6%), sleep (46.6%), and relationships (47.9%). The physical health of caregivers also was affected (mean [SD], 38.4 [3.5]), as reported through PROMIS®. On the basis of RIOFS, caregivers experienced a high level of personal strain (mean [SD], 17.1 [2.9]) and family impact (mean [SD] score, 26.0 [3.8]) due to BBS. From the WPAI, caregivers also reported an impairment in total work productivity (mean [SD], 60.9% [21.4%]) due to BBS. BBS led 48% of employed caregivers to experience an employment event after the BBS diagnosis, such as temporarily or permanently stopping work (34.1%) and switching jobs (7%). Reported out-of-pocket medical costs for this population (median, $1882.80) were 5-10 times greater than average per capita medical estimates.

Conclusions: This novel multicountry study demonstrated that the burden on caregivers in BBS is considerable and multifaceted. This deeper understanding of caregiver health–related burden highlights the need for new strategies to sustain caregivers in their vital roles in caring for patients with BBS.