Primary ciliary dyskinesia: first health-related quality of life measures for pediatric patients

Abstract

Rationale: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient-reported outcomes.

Objectives: Our objective was to create developmentally-appropriate, health-related quality of life questionnaires (QOL-PCD) for children (6-12 years) and adolescents (13-17 years) with PCD and a parent proxy measure.

Methods: 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 PCD patients. 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 European Union participants. Qualitative and quantitative data were used to construct draft instruments. Questionnaires were further refined following cognitive interviews.

Measurement and Main Results: Focus groups (n=62 experts; n=20 patients/parents) and open-ended interviews with patients/parents (n=69; 34 males; age of diagnosis 0-15 years; forced expiratory volume in one second (FEV1) 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 & Hearing, Sinus Symptoms, Social Functioning, Role Functioning, Vitality, Health Perceptions, School Functioning, and Eating & Weight. Different 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 similar results to open-ended interviews. Cognitive testing (n=47; 20 males; age of diagnosis 0-11 years; FEV 49-124% predicted) confirmed that items and response choices were clear, understood by respondents and that all relevant items were included.

Conclusions: 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.

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Identifiers

ORCID for Jane S. Lucas: orcid.org/0000-0001-8701-9975

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