一种罕见的MC4R通路疾病患者在现实世界中新型贪食问卷的心理测量评估

IF 3.5 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2025-08-22 DOI:10.1186/s13023-025-03948-1

Jeremy Pomeroy, Usha G Mallya, Min Yang, Caroline Huber, Alexandra Greatsinger, Ella Hagopian, Andrea M Haqq

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引用次数: 0

摘要

背景：目前还没有有效的方法来评估与罕见MC4R通路疾病相关的贪食症，如Bardet-Biedl综合征（BBS）。贪食症的症状©（SoH）和贪食症的影响©（IoH）是一种新型问卷，旨在评估贪食症的症状和体征及其对患者和护理人员的影响。我们评估了照顾者版本的SoH：照顾者（观察者报告）和IoH：照顾者（观察者报告和自我报告的子量表）的心理测量表现。结果：信度和效度评估使用来自多个国家的横断面调查数据，调查对象是患有暴饮暴食和肥胖的BBS患者的成年护理人员。其他工具包括体重对生活质量的影响(IWQOL)-儿童（家长代理），PROMIS全球照顾者健康量表，修订家庭影响量表（RIOFS），以及工作效率和活动障碍。242名符合条件的照顾者完成了调查。探索性因子分析确定每个子量表有1个因子。IoH：看护者（观察者）（Cronbach’s a = 0.66）和IoH：看护者（自我）（a = 0.72）的内部一致性较强，SoH：看护者（观察者）（a = 0.40）的内部一致性中等。与缺课天数和IWQOL-Kids的所有领域（除身体舒适外）均观察到中至强相关性（范围= 0.315-0.573,p's 10）。报告在RIOFS项目上压力较大和心理健康状况较差的护理人员的IoH评分较差。结论：SoH：看护者和IoH：看护者在现实世界中表现出初步的效度、信度和一致性。研究正在进行中，以进一步验证这些措施用于BBS和其他与肥胖相关的MC4R通路相关疾病的临床试验。

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Psychometric evaluation of novel hyperphagia questionnaires in a real-world setting for patients with a rare MC4R pathway disease.

Background: 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).

Results: 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.

Conclusions: 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.

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.