Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Jul 7;18(1):181.
doi: 10.1186/s13023-023-02692-8.

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study

Elizabeth Forsythe  1 , Usha G Mallya  2 , Min Yang  3 , Caroline Huber  2 , Mary Lynn Cala  3 , Alexandra Greatsinger  3 , Ella Hagopian  3 , Jeremy Pomeroy  4 , Andrea M Haqq  5
Affiliations

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study

Elizabeth Forsythe et al. Orphanet J Rare Dis. .

Abstract

Background: Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aimed to quantify the caregiver burden associated with BBS.

Methods: A cross-sectional, multi-country survey of caregivers from the United States (US), United Kingdom (UK), Canada, and Germany was designed to quantify the extent of caregiver burden associated with obesity and hyperphagia symptoms (i.e., uncontrollable hunger) among patients with BBS.

Results: A total of 242 caregivers across the four countries 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 12.0 (3.7) years. Hyperphagia contributed to a BBS diagnosis in 230 of 242 individuals (95.0%). On average, caregivers used eight different weight management approaches for those in their care and expressed a strong desire for more effective weight management methods. Based on the Impacts of Hyperphagia: Caregiver version, patients' hyperphagia had a moderate-to-severe impact on caregiver mood (56.6%), sleep (46.6%), and relationships (48.0%). Caregivers reported experiencing 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, as measured by the Revised Impact on Family Scale. Among caregivers in the workforce, there also was high impairment in total work productivity (mean [SD], 60.9% [21.4%]) due to caring for patients with BBS according to the Work Productivity and Activity Impairment. More than half (53%) of the caregivers reported spending over 5,000 out-of-pocket in local currency for medical expenses for the patient with BBS in their care.

Conclusions: Obesity and hyperphagia have negative impacts on the lives of caregivers of patients with BBS. The burden is demonstrated to be multifaceted, with various components that may interact with and confound each other, including intensive weight management efforts, productivity loses, impaired family dynamics and out-of-pocket medical expenses.

Keywords: Bardet-Biedl syndrome; Caregiver burden; Hyperphagia; Obesity; Personal strain; Work productivity.

PubMed Disclaimer

Conflict of interest statement

EF has received consulting fees from Rhythm Pharmaceuticals, Inc.; participated in the BBS advisory board for Rhythm Pharmaceuticals, Inc.; and is a clinical investigator for clinical trials of setmelanotide in Bardet-Biedl syndrome for Rhythm Pharmaceuticals, Inc. UGM and CH are employees of Rhythm Pharmaceuticals, Inc. and receive stock or stock options with Rhythm Pharmaceuticals, Inc. MY, AG, and EH are employees of Analysis Group, Inc., which received funding to conduct this study. MLC is a former employee of Analysis Group, Inc., which received funding to conduct this study. JP receives research support from Rhythm Pharmaceuticals, Inc. as a co-investigator for the Setmelanotide Phase 2 Treatment of Obesity in Rare Genetic Disorders (ClinicalTrials.gov Identifier NCT03013543) and as a co-investigator of a study examining unmet medical needs related to obesity in people with Bardet-Biedl syndrome. AMH receives grant funding from the Weston Family Microbiome Initiative and Canadian Institutes of Health Research, is a member of the BBS advisory board for Rhythm Pharmaceuticals, Inc., is a member of the 2021–2022 Somatrogon advisory board for Pfizer, Inc., and is a clinical investigator for trials with Rhythm Pharmaceuticals, Inc. and Levo Therapeutics.

Figures

Fig. 1
Fig. 1
WPAI—BBS Caregiver by Country (Range: 0–100%). BBS: Bardet-Biedl Syndrome; WPAI: Work Productivity and Activity Impairment
Fig. 2
Fig. 2
PROMIS® Scale—BBS Caregiver by Country. BBS: Bardet-Biedl Syndrome; PROMIS: Patient-Reported Outcomes Measurement Information System
Fig. 3
Fig. 3
Out-of-Pocket Medical Expenses for Patients with BBS over the Past 12 Months by Country in Local Currency. BBS: Bardet-Biedl Syndrome
Fig. 4
Fig. 4
Financial Burden of Caring for Patients with BBS. BBS: Bardet-Biedl Syndrome
Fig. 5
Fig. 5
Revised IOFS by Country. BBS: Bardet-Biedl Syndrome; IOFS: Impact on Family Scale. 1. Higher scores indicate that BBS has a greater impact on the family. The bottom bars (dark colors) correspond to the average Familial/Social Impact scores (Range: 0–36) and the top bars (light colors) correspond to the average Personal Strain scores (Range: 0–24). The bolded number at the top of each stacked bar corresponds to the average Total Impact scores (Range: 0–60). 2. Higher scores indicate that BBS has a greater impact on the family
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Rhythm Pharmaceuticals. Data on File. 2023.
    1. Orphanet. Search for a rare disease [cited 2008 December]. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3244.
    1. Valverde D, Castro-Sanchez S, Alvarez-Satta M. Bardet-Biedl syndrome: a rare genetic disease. J Pediatr Genet. 2013;2(2):77–83. - PMC - PubMed
    1. Tobin JL, Beales PL. The nonmotile ciliopathies. Genet Med. 2009;11(6):386–402. doi: 10.1097/GIM.0b013e3181a02882. - DOI - PubMed
    1. Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet-Biedl syndrome-now and in the future. Front Pediatr. 2018;6:23. doi: 10.3389/fped.2018.00023. - DOI - PMC - PubMed

LinkOut - more resources