title: Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
abstract: 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; 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 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; FEV1, 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.
authors.affiliation: 1 Division of Respiratory Medicine and.|2 Child Health Evaluative Sciences, Hospital for Sick Children, Toronto, Ontario, Canada.|3 Department of Pediatrics and.|4 Institute of Health Policy, Management and Education, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Sharon D
authors.initials: SD
authors.lastname: Dell
authors.affiliation: 5 Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina.
authors.forename: Margaret W
authors.initials: MW
authors.lastname: Leigh
authors.affiliation: 6 Primary Ciliary Dyskinesia Centre, University Hospital Southampton, National Health Service Foundation Trust, Southampton, United Kingdom.|7 Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
authors.forename: Jane S
authors.initials: JS
authors.lastname: Lucas
authors.affiliation: 8 Department of Pediatrics, Washington University, St. Louis, Missouri.
authors.forename: Thomas W
authors.initials: TW
authors.lastname: Ferkol
authors.affiliation: 9 Department of Medicine, University of North Carolina, Chapel Hill, North Carolina.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Knowles
authors.affiliation: 10 Department of Psychology, University of Miami, Coral Gables, Florida.
authors.forename: Adrianne
authors.initials: A
authors.lastname: Alpern
authors.affiliation: 5 Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina.|6 Primary Ciliary Dyskinesia Centre, University Hospital Southampton, National Health Service Foundation Trust, Southampton, United Kingdom.|11 Department of Applied Psychology, University College Cork, Cork, Ireland; and.
authors.forename: Laura
authors.initials: L
authors.lastname: Behan
authors.affiliation: 10 Department of Psychology, University of Miami, Coral Gables, Florida.
authors.forename: Anjana M
authors.initials: AM
authors.lastname: Morris
authors.affiliation: 12 Primary Ciliary Dyskinesia Centre, Department of Paediatrics, Royal Brompton and Harefield Foundation Trust, London, United Kingdom.
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
authors.affiliation: 11 Department of Applied Psychology, University College Cork, Cork, Ireland; and.
authors.forename: Audrey
authors.initials: A
authors.lastname: DunnGalvin
authors.affiliation: 10 Department of Psychology, University of Miami, Coral Gables, Florida.
authors.forename: Alexandra L
authors.initials: AL
authors.lastname: Quittner
mesh_terms: D000293:Adolescent; D002648:Child; D054521:Cultural Competency; D005260:Female; D017144:Focus Groups; D006801:Humans; D007391:International Cooperation; D007407:Interviews as Topic; D007619:Kartagener Syndrome / Q000523:psychology*; D008297:Male; D016487:Parenting; D011788:Quality of Life; D011795:Surveys and Questionnaires
keywords: health-related quality of life; parent proxy; patient-reported outcomes; pediatric; primary ciliary dyskinesia