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Health Qual Life Outcomes. 2018 Nov 8;16(1):209. doi: 10.1186/s12955-018-1006-8.
The rare disease, Hunter Syndrome (mucopolysaccharidosis type II; MPS II), characterized by iduronate-2-sulfatase deficiency, has heterogeneous symptoms often including cognitive impairment (CI). To evaluate physical functioning and daily activity limitations of patients with MPS II, the multidomain shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) questionnaire was previously developed and preliminarily validated. Here we gather data in a dedicated prospective longitudinal observational study using direct responses to the shortened instrument and assess its psychometric properties further.
Interview data were collected from eligible self-reporting patients (≥ 12 years of age) or caregivers of patients using respective versions of the instrument at baseline and 2-4 weeks later. Internal consistency, test-retest reliability, convergent and discriminant validity, and validity of known groups were assessed. Participants also completed Child Health Questionnaire (CHQ), Health Utilities Index Mark 3, and Global Impression of Severity (GIS) questionnaires.
All patients were male, consisting of 31 caregiver-reported patients (aged 3-26 years) and 20 self-reported patients (aged 12-58 years). Most (77.4%) caregiver-reported patients had CI. Both questionnaire versions demonstrated good internal consistency and test-retest reliability; Cronbach's alpha and intra-class correlation coefficients were > 0.70. Spearman's correlations demonstrated good convergent validity with moderate (> 0.3) to high (> 0.6) correlations of the HS-FOCUS total score with physical functioning, role/social-physical, and bodily pain domains of CHQ. The tool also differentiated between MPS II severity levels based on GIS scores.
The shortened HS-FOCUS questionnaire was found to be a valid and reliable tool to assess the physical functioning impact of MPS II.
罕见病亨特综合征（黏多糖贮积症 II 型；MPS II）的特征为艾杜糖-2-硫酸酯酶缺乏，其症状具有异质性，常包括认知障碍（CI）。为评估 MPS II 患者的身体功能和日常活动受限程度，先前开发并初步验证了多领域缩短亨特综合征临床理解功能评定量表（HS-FOCUS）。在此，我们通过直接使用缩短版工具收集了一项专门的前瞻性纵向观察研究的数据，并进一步评估其心理测量特性。
使用各自版本的工具，从符合条件的自我报告患者（≥ 12 岁）或患者的照料者处收集访谈数据，基线和 2-4 周后各收集一次。评估内部一致性、重测信度、聚合和区分效度以及效标关联。参与者还完成了儿童健康问卷（CHQ）、健康效用指数标记 3 版（HUI3）和总体印象严重程度量表（GIS）。
所有患者均为男性，包括 31 名照料者报告的患者（年龄 3-26 岁）和 20 名自我报告的患者（年龄 12-58 岁）。大多数（77.4%）照料者报告的患者有 CI。两个问卷版本均表现出良好的内部一致性和重测信度；克朗巴赫的α和组内相关系数均>0.70。Spearman 相关性显示，HS-FOCUS 总分与 CHQ 的身体功能、角色/社会-身体和身体疼痛领域具有良好的聚合效度，相关系数介于中度（>0.3）到高度（>0.6）之间。该工具还根据 GIS 评分区分了 MPS II 的严重程度级别。
缩短的 HS-FOCUS 问卷被认为是评估 MPS II 身体功能影响的有效且可靠的工具。
