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oai:cora.ucc.ie:10468/36152023-04-04T07:09:33Zcom_10468_249com_10468_2com_10468_384com_10468_1col_10468_1233col_10468_385col_10468_140

E-thesis on CORA only Entire Thesis Restricted Not applicable This thesis is due for publication or the author is actively seeking to publish this material Dunn Galvin, Audrey Behan, Laura Seventh Framework Programme 2017-02-10T10:10:03Z 2016 2016 Background: Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder associated with abnormal ciliary structure and function and characterised by progressive sinopulmonary disease. There is no ‘gold standard’ for diagnosing PCD. This thesis aimed: to provide an overview of the PCD patient’s experience, to address some of the complexities in referring and diagnosing PCD patients, and to provide PCD-specific validated health-related quality of life (HRQoL) measures. Method: A patient survey to capture patient experience of diagnostic testing was completed in 25 countries and was followed by semi-structured interviews, analysed thematically. Through the analysis of data from consecutive patients referred to a PCD diagnostic centre (2007-2013), sensitivity and specificity were calculated. Patient clinical characteristics were correlated with diagnostic outcome. Using logistic regression, the predictive performance of the best model was simplified into a tool (PICADAR), predicting the likelihood of referrals having PCD. A PCD-specific HRQoL measure (QOL-PCD) was developed following a literature review, expert panel meeting, and semi-structured interviews (n=21). Validation followed with patients completing QOL-PCD and generic HRQoL measures. Results: PCD was found to have a negative impact on physical, emotional, and social functioning, highlighting need for PCD-specific HRQoL measures. Outcome data for diagnostic testing showed that none of the diagnostic testing strategies were 100% accurate. PICADAR has been shown to have good accuracy and validity to predict diagnostic outcome. The QOL-PCD HRQoL demonstrated good internal consistency, test-retest reliability, convergent and divergent validity. Discussion: Findings from the international survey were used to advise on ERS Task Force guidelines for diagnosing PCD. The development of PICADAR will lead to earlier referral of patients. The development of QOL-PCD provides the first disease-specific measure to allow for the assessment of treatments. Overall this thesis has led to advances in the field of PCD; from diagnosis to the treatment and management of patients. Not peer reviewed Accepted Version application/pdf Behan, L. 2016. Primary ciliary dyskinesia: a biopsychosocial approach. PhD Thesis, University College Cork. https://hdl.handle.net/10468/3615 en University College Cork info:eu-repo/grantAgreement/EC/FP7::SP1::HEALTH/305404/EU/Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia/BESTCILIA © 2016, Laura Behan. http://creativecommons.org/licenses/by-nc-nd/3.0/ Quality of life Patient reported outcome measure Diagnostic accuracy Patient perspective Predictive tool false Primary ciliary dyskinesia: a biopsychosocial approach Doctoral thesis Doctoral Degree (Structured) PhD (Social Science) a.dunngalvin@ucc.ieinfo:eu-repo/semantics/openAccess