Pomeroy Jeremy, Mallya Usha G, Yang Min, Huber Caroline, Greatsinger Alexandra, Hagopian Ella, Haqq Andrea M
Marshfield Clinic Research Institute, Marshfield, WI, USA.
Rhythm Pharmaceuticals, Inc., Boston, MA, USA.
Orphanet J Rare Dis. 2025 Aug 22;20(1):452. doi: 10.1186/s13023-025-03948-1.
There are no validated measures to assess hyperphagia associated with rare MC4R pathway diseases, such as Bardet-Biedl Syndrome (BBS). Symptoms of Hyperphagia© (SoH) and Impacts of Hyperphagia© (IoH) are novel questionnaires designed to assess signs and symptoms of hyperphagia and their impacts on patients and caregivers. We evaluated the psychometric performance of the caregiver-versions of the SoH: Caregiver (Observer-reported) and IoH: Caregiver (Observer-reported and Self-reported subscales).
Reliability and validity were evaluated using data from a multi-country cross-sectional survey of adult caregivers of patients with BBS experiencing hyperphagia and obesity. Other instruments included were Impact of Weight on Quality of Life (IWQOL)-Kids (Parent Proxy), PROMIS Scale Global Health of Caregiver, Revised Impact on Family Scale (RIOFS), and Work Productivity and Activity Impairment. 242 eligible caregivers completed the survey. Exploratory factor analysis identified 1 factor per subscale. Strong internal consistency was observed for IoH: Caregiver (Observer) (Cronbach's a = 0.66) and IoH: Caregiver (Self) (a = 0.72) and moderate for SoH: Caregiver (Observer) (a = 0.40). Moderate-to-strong correlations were observed with school days missed and all domains of IWQOL-Kids except Physical Comfort (range = 0.315-0.573, p's < 0.001). Known-groups indicated significantly worse SoH: Caregiver subscores for patients using appetite suppressants or implementing more weight management approaches (6-10 vs. ≤5 or > 10). Caregivers reporting greater strain on RIOFS items and worse mental health had worse IoH subscores.
The SoH: Caregiver and IoH: Caregiver demonstrated preliminary validity, reliability, and consistency in a real-world setting. Research is underway to further validate these measures for use in clinical trials for BBS and other MC4R pathway-related diseases associated with obesity.
目前尚无经过验证的措施来评估与罕见的促黑素细胞激素4受体（MC4R）途径疾病相关的食欲亢进，如巴德-比德尔综合征（BBS）。食欲亢进症状（SoH）问卷和食欲亢进影响（IoH）问卷是旨在评估食欲亢进的体征和症状及其对患者和照料者影响的新型问卷。我们评估了SoH照料者版（照料者报告）和IoH照料者版（照料者报告及自我报告分量表）的心理测量性能。
使用来自一项多国横断面调查的数据评估信效度，该调查对象为经历食欲亢进和肥胖的BBS患者的成年照料者。其他纳入的工具包括儿童生活质量体重影响量表（IWQOL-Kids，家长代理版）、照料者PROMIS全球健康量表、修订后的家庭影响量表（RIOFS）以及工作效率和活动受损情况。242名符合条件的照料者完成了调查。探索性因子分析在每个分量表中确定了1个因子。IoH照料者版（观察）的内部一致性较强（Cronbach's α = 0.66），IoH照料者版（自我）的内部一致性较强（α = 0.72），SoH照料者版（观察）的内部一致性中等（α = 0.40）。观察到与缺课天数以及IWQOL-Kids除身体舒适度外的所有领域存在中度至强相关性（范围 = 0.315 - 0.573，p值 < 0.001）。已知分组表明，使用食欲抑制剂或采取更多体重管理方法的患者的SoH照料者版子分数显著更差（6 - 10分对比≤5分或>10分）。报告RIOFS项目压力更大且心理健康状况更差的照料者的IoH子分数更差。
SoH照料者版和IoH照料者版在现实环境中表现出初步的效度、信度和一致性。正在进行研究以进一步验证这些措施在BBS及其他与肥胖相关的MC4R途径疾病的临床试验中的应用。
