Mul Karlien, Wijayanto Feri, Loonen Tom G J, Groot Perry, Vincenten Sanne C C, Knuijt Simone, Groothuis Jan T, Maal Thomas J J, Heskes Tom, Voermans Nicol C, Engelen Baziel G M van
Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Institute for Computing and Information Sciences, Radboud University, Nijmegen, The Netherlands.
Disabil Rehabil. 2023 May;45(9):1530-1535. doi: 10.1080/09638288.2022.2066208. Epub 2022 May 16.
Facial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD) by healthcare professionals and researchers. This is at least in part due to the fact that there are few adequate clinical outcome measures available.
We developed the Facial Function Scale, a Rasch-built questionnaire on the functional disabilities relating to facial weakness in FSHD. A preliminary 33-item questionnaire was created based on semi-structured interviews with 16 FSHD patients and completed by 119 patients. For reliability studies, 73 patients completed it again after a two-week interval. Data were subjected to semi-automated Rasch analysis to select the most appropriate item set to fit model expectations.
This resulted in a 25-item unidimensional, linear-weighted questionnaire with high internal consistency (person separation index = 0.92) and test-retest reliability (patients' locations ICC = 0.98 and items' locations ICC = 0.99). Good external construct validity scores were obtained through correlation with the Communicative Participation Item Bank questionnaire, examiner-reported Facial Weakness Score and facial weakness subscale of the FSHD evaluation score (respectively = 0.733, = -0.566, and = 0.441, all < 0.001).
This study provides a linear-weighted, clinimetrically sound, patient-reported outcome measure on the functional disabilities relating to facial weakness in FSHD, to enable further research on this relevant topic.Implications for rehabilitationFacial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD), both in symptomatic treatment and in research.To enable the development and testing of therapeutic symptomatic interventions for facial weakness, clinical outcome measures are required.This study provides a linear-weighted, clinimetrically sound, patient-reported outcome measure on the functional disabilities relating to facial weakness in FSHD patients.
面部肌无力及其功能后果是医护人员和研究人员常常未充分认识到的面肩肱型肌营养不良（FSHD）临床特征。这至少部分是由于可用的充分临床结局指标很少。
我们开发了面部功能量表，这是一个基于拉施模型构建的关于FSHD面部肌无力相关功能障碍的问卷。基于对16名FSHD患者的半结构化访谈创建了一个初步的33项问卷，并由119名患者完成。为进行可靠性研究，73名患者在间隔两周后再次完成该问卷。对数据进行半自动拉施分析，以选择最合适的项目集以符合模型预期。
这产生了一个25项的单维、线性加权问卷，具有高内部一致性（人员分离指数 = 0.92）和重测信度（患者位置的组内相关系数ICC = 0.98，项目位置的ICC = 0.99）。通过与交流参与项目库问卷、检查者报告的面部肌无力评分以及FSHD评估评分的面部肌无力子量表相关分析，获得了良好的外部结构效度分数（分别为 = 0.733， = -0.566，以及 = 0.441，均 < 0.001）。
本研究提供了一个线性加权、具有临床测量学可靠性、患者报告的关于FSHD面部肌无力相关功能障碍的结局指标，以促进对这一相关主题的进一步研究。康复意义面部肌无力及其功能后果在对症治疗和研究中都是面肩肱型肌营养不良（FSHD）常常未得到充分认识的临床特征。为了能够开发和测试针对面部肌无力的治疗性对症干预措施，需要临床结局指标。本研究提供了一个线性加权、具有临床测量学可靠性、患者报告的关于FSHD患者面部肌无力相关功能障碍的结局指标。
