1 Division of Respiratory Medicine and.
2 Child Health Evaluative Sciences, Hospital for Sick Children, Toronto, Ontario, Canada.
Ann Am Thorac Soc. 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC.
Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient-reported outcomes.
Our objective was to create developmentally appropriate, health-related quality-of-life questionnaires (QOL-PCD) for children (6-12 yr) and adolescents (13-17 yr) with PCD and a parent proxy measure.
The QOL-PCD was developed using a cross-cultural protocol-driven approach satisfying both North American and European drug regulatory agency guidelines. A conceptual framework was generated by literature review, focus groups (expert clinicians and patients/parents), and open-ended interviews with children, adolescents, and parents of patients with PCD. We recruited participants from international research consortiums, PCD clinics, and patient advocacy groups, aiming for representation of a wide spectrum of disease severity, sociodemographic status, and ethnicity. Qualitative interviews were conducted by trained and experienced research assistants and psychologists. Transcripts were content-analyzed with Atlas.ti/NVivo to assess saturation of content. A self-completed item relevance survey was administered to E.U.
Qualitative and quantitative data were used to construct draft instruments. Questionnaires were further refined after cognitive interviews.
Focus groups (n = 62 experts; n = 20 patients/parents) and open-ended interviews with patients/parents (n = 69; 34 males; age at diagnosis, 0-15 yr; FEV, 58-118% predicted) revealed a wide spectrum of issues unique to this population. Content analysis of transcripts identified the following domains, depending on age: Respiratory Symptoms, Physical Functioning, Emotional Functioning, Treatment Burden, Ears and Hearing, Sinus Symptoms, Social Functioning, Role Functioning, Vitality, Health Perceptions, School Functioning, and Eating and Weight. Various items were retained in questionnaires, based on age and role of respondent: 37, 43, and 41 items for children, adolescents, and parent proxy, respectively. The item relevance survey (n = 57) yielded results similar to those of open-ended interviews. Cognitive testing (n = 47; 20 males; age at diagnosis, 0-11 yr; FEV, 49-124% predicted) confirmed that items and response choices were clear and understood by respondents, and that all relevant items were included.
The QOL-PCD measures, developed using rigorous, protocol-driven methods and international collaborations, have demonstrated content validity and cross-cultural equivalence for implementation in English-speaking populations. Psychometric testing is underway to determine their measurement properties for evaluating clinical interventions and informing quality of care.
原发性纤毛运动障碍（PCD）是一种罕见疾病。目前尚无针对特定儿科患者的疾病报告结果的可用数据。
我们的目的是为患有 PCD 的儿童（6-12 岁）和青少年（13-17 岁）创建发展适当的、与健康相关的生活质量问卷（QOL-PCD），以及父母代理测量工具。
QOL-PCD 的开发采用了跨文化的协议驱动方法，既符合北美和欧洲药物监管机构的指南。通过文献综述、焦点小组（专家临床医生和患者/家长）以及与 PCD 患者的儿童、青少年和家长进行的开放式访谈，生成了一个概念框架。我们从国际研究联盟、PCD 诊所和患者权益组织招募参与者，旨在代表广泛的疾病严重程度、社会人口地位和种族。定性访谈由经过培训和经验丰富的研究助理和心理学家进行。使用 Atlas.ti/NVivo 对转录本进行内容分析，以评估内容的饱和度。对欧盟进行了自我完成的项目相关性调查。
定性和定量数据用于构建草案工具。在认知访谈后，问卷进一步得到了改进。
焦点小组（n=62 名专家；n=20 名患者/家长）和与患者/家长的开放式访谈（n=69；34 名男性；诊断时的年龄，0-15 岁；FEV，58-118%预计）揭示了该人群特有的广泛问题。转录本的内容分析确定了以下取决于年龄的领域：呼吸症状、身体机能、情绪功能、治疗负担、耳朵和听力、鼻窦症状、社会功能、角色功能、活力、健康感知、学校功能和饮食与体重。根据年龄和受访者的角色，保留了各种项目：儿童、青少年和父母代理分别有 37、43 和 41 项。项目相关性调查（n=57）的结果与开放式访谈相似。认知测试（n=47；20 名男性；诊断时的年龄，0-11 岁；FEV，49-124%预计）证实，项目和响应选择对受访者来说是清晰易懂的，并且包含了所有相关的项目。
使用严格的、基于协议的方法和国际合作开发的 QOL-PCD 测量工具，已经证明了其在英语人群中的内容有效性和跨文化等效性。正在进行心理测量测试，以确定其用于评估临床干预和告知护理质量的测量特性。
