title: Diagnosing primary ciliary dyskinesia: an international patient perspective.
abstract: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-pulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing.A patient survey was developed by patient representatives and healthcare specialists to capture experience. Online versions of the survey were translated into nine languages and completed in 25 countries. Of the respondents (n=365), 74% were PCD-positive, 5% PCD-negative and 21% PCD-uncertain/inconclusive. We then interviewed 20 parents/patients. Transcripts were analysed thematically.35% of respondents visited their doctor more than 40 times with PCD-related symptoms prior to diagnostic referral. Furthermore, the most prominent theme among interviewees was a lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis. Patients also highlighted the need for improved reporting of results and a solution to the "inconclusive" diagnostic status.These findings will be used to advise the ERS Task Force guidelines for diagnosing PCD, and should help stakeholders responsible for improving existing services and expanding provision for diagnosis of this rare disease.
authors: NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK School of Applied Psychology, University College Cork, Cork, Ireland L.Behan@soton.ac.uk.
authors: Laura
authors: L
authors: Behan
authors: School of Applied Psychology, University College Cork, Cork, Ireland.
authors: Audrey
authors: A
authors: Dunn Galvin
authors: NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors: Bruna
authors: B
authors: Rubbo
authors: European Lung Foundation, Sheffield, UK.
authors: Sarah
authors: S
authors: Masefield
authors: Primary Ciliary Dyskinesia Family Support Group, UK.
authors: Fiona
authors: F
authors: Copeland
authors: Primary Ciliary Dyskinesia Foundation, Minneapolis, MN, USA.
authors: Michele
authors: M
authors: Manion
authors: Primary Ciliary Dyskinesia Foundation, Switzerland.
authors: Bernhard
authors: B
authors: Rindlisbacher
authors: Primary Ciliary Dyskinesia Family Support Group, UK.
authors: Beatrice
authors: B
authors: Redfern
authors: NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors: Jane S
authors: JS
authors: Lucas
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D005060:Europe; D019317:Evidence-Based Medicine; D005260:Female; D054625:Healthcare Disparities; D006801:Humans; D007223:Infant; D007391:International Cooperation; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D007802:Language; D008297:Male; D008875:Middle Aged; D017410:Practice Guidelines as Topic; D015995:Prevalence; D011788:Quality of Life; D016896:Treatment Outcome; D055815:Young Adult