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Diagnosing primary ciliary dyskinesia: an international patient perspective

Diagnosing primary ciliary dyskinesia: an international patient perspective
Diagnosing primary ciliary dyskinesia: an international patient perspective
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.
0903-1936
1-12
Behan, Laura
cf1a7b5e-64c5-4b02-8db2-7ad96781d40d
Dunn Galvin, Audrey
df33ae04-bb19-4024-83ed-25c3e3a676e0
Rubbo, Bruna
dc31cd48-3d84-41ab-a8b8-351c9914dca4
Masefield, Sarah
ac2b4db9-c4d4-49b1-832c-a5f2f7b98d79
Copeland, Fiona
64d779cf-20e4-461d-abae-0906e105a8bf
Manion, Michele
cf35ad81-fc31-40cc-907b-87fd6e12e7b3
Rindlisbacher, Bernhard
bbdf566b-c813-4050-8c7b-29e4296fbacc
Redfern, Beatrice
44f420e5-e73d-4fae-b436-744e87418f80
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Behan, Laura
cf1a7b5e-64c5-4b02-8db2-7ad96781d40d
Dunn Galvin, Audrey
df33ae04-bb19-4024-83ed-25c3e3a676e0
Rubbo, Bruna
dc31cd48-3d84-41ab-a8b8-351c9914dca4
Masefield, Sarah
ac2b4db9-c4d4-49b1-832c-a5f2f7b98d79
Copeland, Fiona
64d779cf-20e4-461d-abae-0906e105a8bf
Manion, Michele
cf35ad81-fc31-40cc-907b-87fd6e12e7b3
Rindlisbacher, Bernhard
bbdf566b-c813-4050-8c7b-29e4296fbacc
Redfern, Beatrice
44f420e5-e73d-4fae-b436-744e87418f80
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313

Behan, Laura, Dunn Galvin, Audrey, Rubbo, Bruna, Masefield, Sarah, Copeland, Fiona, Manion, Michele, Rindlisbacher, Bernhard, Redfern, Beatrice and Lucas, Jane S. (2016) Diagnosing primary ciliary dyskinesia: an international patient perspective. European Respiratory Journal, 1-12. (doi:10.1183/13993003.02018-2015). (PMID:27492837)

Record type: Article

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.

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More information

Accepted/In Press date: 26 May 2016
e-pub ahead of print date: 4 August 2016
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 399378
URI: https://eprints.soton.ac.uk/id/eprint/399378
ISSN: 0903-1936
PURE UUID: 6c41ce05-af67-423f-97f7-e8a14214cd8a
ORCID for Bruna Rubbo: ORCID iD orcid.org/0000-0002-1629-8601

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Date deposited: 15 Aug 2016 12:24
Last modified: 06 Jun 2018 12:20

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Contributors

Author: Laura Behan
Author: Audrey Dunn Galvin
Author: Bruna Rubbo ORCID iD
Author: Sarah Masefield
Author: Fiona Copeland
Author: Michele Manion
Author: Bernhard Rindlisbacher
Author: Beatrice Redfern
Author: Jane S. Lucas

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