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. 2023 Jul 12;32(169):220200.
doi: 10.1183/16000617.0200-2022. Print 2023 Sep 30.

Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

Mihaela Alexandru  1   2 , Raphaël Veil  3 , Bruna Rubbo  4   5 , Myrofora Goutaki  6   7 , Sookyung Kim  8 , Yin Ting Lam  6 , Jérôme Nevoux  8   2 , Jane S Lucas  4   5 , Jean-François Papon  8   2   9
Affiliations

Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

Mihaela Alexandru et al. Eur Respir Rev. .

Abstract

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by pulmonary, otological and sino-nasal manifestations. Well-defined clinical outcome measures are needed in such rare diseases research to improve follow-up and treatments. Pulmonary outcome measures have recently been described. The aim of this study was to identify ear and upper airway outcome measures that could be used for longitudinal follow-up of individuals with PCD.

Methods: A scoping review was performed by systematically searching MEDLINE, Embase and Cochrane Database of Systematic Reviews online databases for studies published from January 1996 to March 2022 that included at least 10 adult or paediatric PCD patients and reported ear and upper airway outcomes.

Results: 33 studies (1794 patients) were included. 10 ear and upper airway outcomes were reported. 17 studies reported audiometry, 16 reported otoscopic findings, and 13 reported rhinoscopic findings and sinus imaging. Health-related quality of life questionnaires were performed in seven studies. There was a high variability in definitions and measurement of outcomes between studies.

Conclusions: This scoping review highlights the lack of data regarding ear and upper airway outcomes in PCD. It also reports a high heterogeneity in outcome definitions or measures. We provide well-founded specific suggestions to standardise ear and upper airway outcome definitions and reporting for future PCD research studies.

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Conflict of interest statement

Conflict of interest: No author has a conflict of interest to declare.

Figures

FIGURE 1
FIGURE 1
Number of studies that reported outcome measures in primary ciliary dyskinesia as either study outcome or population descriptor. Studies often reported on more than one outcome measure and might therefore be featured in more than one instance. ENT: ear–nose–throat; QoL: quality of life.
FIGURE 2
FIGURE 2
Ear–nose–throat (ENT) outcome measure associations reported in the studies included in this review. The size of the circles represents the number of patients for whom the outcome was assessed and the lines connecting the circles represent the associations between outcome measures. Two nodes connected by a line illustrate that those two outcomes have both been measured together in at least one study. Nodes with no connection represent outcomes that have not been evaluated concomitantly with others. DPOAE: distortion product otoacoustic emission; nNO: nasal nitric oxide; QOL-PCD: primary ciliary dyskinesia quality of life questionnaire; SNOT-20: 20-item Sino-Nasal Outcome Test; SNOT-22: 22-item Sino-Nasal Outcome Test; CT: computed tomography.
FIGURE 3
FIGURE 3
High heterogeneity in normal hearing definitions among studies reporting auditory outcomes.
FIGURE 4
FIGURE 4
Sinus computed tomography scan analysis outcome: high heterogeneity in the literature.
See this image and copyright information in PMC

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