Diagnosing primary ciliary dyskinesia: an international patient perspective

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dc.contributor.authorBehan, Laura
dc.contributor.authorDunn Galvin, Audrey
dc.contributor.authorRubbo, Bruna
dc.contributor.authorMasefield, Sarah
dc.contributor.authorCopeland, Fiona
dc.contributor.authorManion, Michele
dc.contributor.authorRindlisbacher, Bernhard
dc.contributor.authorRedfern, Beatrice
dc.contributor.authorLucas, Jane S.
dc.contributor.funderEuropean Respiratory Societyen
dc.contributor.funderEuropean Cooperation in Science and Technologyen
dc.date.accessioned2016-10-20T14:00:20Z
dc.date.available2016-10-20T14:00:20Z
dc.date.issued2016-08-01
dc.description.abstractPrimary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary 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.en
dc.description.sponsorshipEuropean Respiratory Society (ERS Task Force TF-2014-04); European Cooperation in Science and Technology (BEAT-PCD (COST Action 1407))en
dc.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationBehan, L., Dunn Galvin, A., Rubbo, B., Masefield, S., Copeland, F., Manion, M., Rindlisbacher, B., Redfern, B. & Lucas, J. S. (2016) ‘Diagnosing primary ciliary dyskinesia: an international patient perspective’, European Respiratory Journal, 48, 1096-1107. doi: 10.1183/13993003.02018-2015en
dc.identifier.doi10.1183/13993003.02018-2015
dc.identifier.endpage1107en
dc.identifier.issn0903-1936
dc.identifier.issn1399-3003
dc.identifier.issued4en
dc.identifier.journaltitleEuropean Respiratory Journalen
dc.identifier.startpage1096en
dc.identifier.urihttps://hdl.handle.net/10468/3200
dc.identifier.volume48en
dc.language.isoenen
dc.publisherEuropean Respiratory Societyen
dc.rights© ERS 2016. ERJ Open articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.en
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/en
dc.subjectPrimary ciliary dyskinesiaen
dc.subjectPCDen
dc.subjectEuropean Respiratory Society (ERS) Task Forceen
dc.subjectEvidence-based clinical practiceen
dc.subjectERS Task Force guidelinesen
dc.subjectDiagnosisen
dc.titleDiagnosing primary ciliary dyskinesia: an international patient perspectiveen
dc.typeArticle (peer-reviewed)en
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