Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.
Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden and impact of severe obesity and hyperphagia on patients and caregivers. Eligible respondents were caregivers ≥18 years old who had cared for ≥6 months individuals with a diagnosis of BBS who had obesity or were in the ≥95 weight percentile and had hyperphagia (uncontrollable hunger). The survey comprised several observer- and caregiver-reported outcome instruments, including the Impact of Weight on Quality of Life-Kids (IWQOL-Kids, parent proxy; score range, 0-100, with a score of 100 having the least impact on quality of life), the Symptoms of Hyperphagia (SOH), and the Impacts of Hyperphagia (IOH) questionnaires.
Results: A total of 242 caregivers in Canada, Germany, the United Kingdom, and the United States completed the survey (mean [standard deviation (SD)] age, 41.9 [6.7] years; 54.1% male; mean [SD] age of individuals with BBS, 12 [3.7] years; 64% male). Hyperphagia contributed to a BBS diagnosis in 230 of 242 individuals (95%). From the IWQOL-Kids, caregivers reported obesity impacted health-related quality of life (HRQOL) for those in their care, especially as it related to body esteem (mean [SD], 40.9 [18.3]), social life (41.7 [18.1]), and physical comfort (41.9 [17.5]). From the SOH, caregivers observed hyperphagic behaviors multiple times a day, such as negotiating for food (89.6%) and waking up asking or looking for food at night (88.4%). Of the 181 children, hyperphagia caused difficulty with focusing in school in 97.7%, and BBS symptoms caused 82.3% of children to miss ≥1 day of school over a week. From the IOH, hyperphagia had at least moderate impacts on individuals with BBS, with leisure/recreational activities (61.5%), mood/emotions (55.8%), and sleep (53.7%) affected. Similar moderate-to-severe impacts of hyperphagia on caregiver mood (56.6%), sleep (46.6%), and relationships (48.0%) were reported.
Conclusions: Hyperphagia and obesity have substantial negative impacts on the HRQOL of individuals with BBS and their caregivers/families. This study improves the understanding of the burden of hyperphagia and BBS and highlights the value of identifying effective interventions to alleviate symptoms of hyperphagia to improve HRQOL of these individuals and their caregivers and families.
15 Sep 2022 - 17 Sep 2022