Data Sheet 1_Content validity of mobility measures in arthrogryposis multiplex congenita: engaging clinicians and people with lived experience.pdf

IntroductionLower-extremity impairment is prevalent in children with Arthrogryposis multiplex congenita (AMC), frequently leading to mobility limitations. Without AMC-specific assessment tools, clinicians and researchers often employ tools that have not been formally validated for the AMC population. This study aims to establish the content validity of commonly used mobility measures in children with AMC following the COnsensus-based Standards for health Measurement INstruments (COSMIN) and the International Classification of Functioning, Disability, and Health (ICF) framework.
MethodsItems from the measures “Functional Mobility Scale (FMS), Gillette Functional Assessment Questionnaire (FAQ), Functional Independence Measure for Children (WeeFIM), and Patient-Reported Outcomes Measurement Information System (PROMIS)” were linked to the ICF categories using the refined linking rules of the ICF. Three raters conducted independent linking, and inter-rater reliability was calculated using the Kappa coefficient. An expert panel consisting of people with lived experience, clinicians and researchers reviewed the ICF codes identified by the raters and evaluated the comprehensibility, relevance, and comprehensiveness of the four measures using the COSMIN standards. The Content Validity Index (CVI) and modified Kappa (k*) were calculated.
ResultsInter-rater agreement was substantial [κ = 0.79, (95% CI: 0.78–0.84)]. Most concepts (84.4%) were linked to the “Activities and Participation” domain, with a limited representation of “Environmental Factors” (8.9%) and “Body Functions” (6.7%). The CVI and k* values for most measures indicated excellent content validity (0.91 to 1), except for the PROMIS Mobility Young Adult (≤0.82). The expert panel found that measures exhibited high comprehensibility and relevance, but comprehensiveness was insufficient. Most studied mobility measures missed concepts such as pain, fatigue, mobility aids, and compensatory strategies.
ConclusionsFMS, FAQ, WeeFIM, and PROMIS (Parent Proxy/Pediatric) demonstrated good content validity. However, none of these measures fully address the full spectrum of mobility experiences in children with AMC. Incorporating missing concepts, such as environmental challenges, compensatory strategies, and pain, into existing or newly developed assessment tools is essential for providing a more holistic evaluation of functional mobility. Doing so will support more comprehensive clinical assessment, improve outcome tracking, and enhance care for children living with AMC.

引言
先天性多关节挛曲症（Arthrogryposis multiplex congenita, AMC）患儿普遍存在下肢功能障碍，常导致运动能力受限。由于缺乏针对AMC的专用评估工具，临床医师与研究人员通常会使用未在AMC人群中经过正式效度验证的评估工具。本研究旨在依据健康测量工具共识标准（COnsensus-based Standards for health Measurement INstruments, COSMIN）与国际功能、残疾和健康分类（International Classification of Functioning, Disability, and Health, ICF）框架，确立常用运动能力评估工具在AMC患儿中的内容效度。

方法
本研究采用ICF标准化关联规则，将「功能运动量表（Functional Mobility Scale, FMS）、吉列特功能评估问卷（Gillette Functional Assessment Questionnaire, FAQ）、儿童功能独立性评定量表（Functional Independence Measure for Children, WeeFIM）以及患者报告结局测量信息系统（Patient-Reported Outcomes Measurement Information System, PROMIS）」四项评估工具的条目映射至ICF分类体系中。由3名评分者独立完成条目映射，并通过Kappa系数计算评分者间信度。由具有AMC患病体验者、临床医师及研究人员组成的专家小组，对评分者确定的ICF编码进行复核，并依据COSMIN标准评估四项工具的可理解性、相关性与全面性，同时计算内容效度指数（Content Validity Index, CVI）与修正Kappa系数（modified Kappa, k*）。

结果
评分者间一致性良好[κ=0.79，95%CI：0.78~0.84]。绝大多数映射概念（84.4%）被归类至「活动与参与」维度，「环境因素」与「身体功能」维度的占比分别仅为8.9%与6.7%。多数评估工具的CVI与k*值均提示其内容效度优异（0.91~1），仅「PROMIS青年运动能力量表」除外（≤0.82）。专家小组评估发现，现有评估工具的可理解性与相关性均表现良好，但全面性存在不足。本次研究涉及的多数运动能力评估工具均遗漏了疼痛、疲劳、辅助移动器具以及代偿策略等核心概念。

结论
FMS、FAQ、WeeFIM以及PROMIS（家长代理版/儿科版）均表现出良好的内容效度，但上述工具均未能全面覆盖AMC患儿的运动能力体验全谱系。将遗漏的概念（如环境挑战、代偿策略与疼痛）纳入现有或新开发的评估工具中，对于实现功能运动能力的全面评估至关重要。此举将助力更完善的临床评估、优化结局追踪，并改善AMC患儿的照护质量。