University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
Rhythm Pharmaceuticals, Inc., Boston, MA, USA.
Orphanet J Rare Dis. 2023 Jul 7;18(1):181. doi: 10.1186/s13023-023-02692-8.
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.
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.
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.
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.
Bardet-Biedl 综合征（BBS）是一种罕见的、遗传异质性肥胖综合征，与多食症有关。鉴于 BBS 症状在儿童期早期出现且并发症多种多样，本研究旨在量化与 BBS 相关的照顾者负担。
设计了一项跨国家（美国、英国、加拿大和德国）的照顾者横断面调查，旨在量化 BBS 患者肥胖和多食症（即无法控制的饥饿）相关症状给照顾者带来的负担程度。
共有来自四个国家的 242 名照顾者符合纳入标准并完成了调查。照顾者的平均（标准差 [SD]）年龄为 41.9（6.7）岁，其照顾的 BBS 患者的平均（SD）年龄为 12.0（3.7）岁。242 名个体中有 230 名（95.0%）因多食症而被诊断为 BBS。平均而言，照顾者为所照顾的人采用了八种不同的体重管理方法，并强烈希望有更有效的体重管理方法。根据 Hyperphagia: Caregiver 版本，患者的多食症对照顾者的情绪（56.6%）、睡眠（46.6%）和人际关系（48.0%）产生了中度至重度影响。照顾者报告称，由于 BBS，他们经历了高水平的个人压力（平均[SD]，17.1[2.9]）和家庭影响（平均[SD]评分，26.0[3.8]），这是通过修订后的家庭影响量表测量的。在工作场所的照顾者中，由于照顾 BBS 患者，他们的总工作生产力（平均[SD]，60.9%[21.4%]）也受到严重影响，这是根据工作生产力和活动障碍评估的。超过一半（53%）的照顾者报告称，他们在照顾所照顾的 BBS 患者时，自费支出超过当地货币 5000 美元的医疗费用。
肥胖症和多食症对 BBS 患者照顾者的生活产生负面影响。结果表明，负担是多方面的，包括各种可能相互作用和混淆的组成部分，包括密集的体重管理努力、生产力下降、家庭动态受损和自费医疗费用。
