Search

Background: Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat exacerbations, a potential outcome for research and clinical trials., Methods: We set up an expert panel of 24 ear-nose-throat specialists, respiratory physicians, other healthcare professionals and patients to develop consensus definitions of sinonasal and otological exacerbations in children and adults with primary ciliary dyskinesia for research settings. We reviewed the literature and used a modified Delphi approach with four electronic surveys., Results: Definitions for both sinonasal and otological exacerbations are based on a combination of major and minor criteria, requiring three major or two major and at least two minor criteria each. Major criteria for a sinonasal exacerbation are 1) reported acute increase in nasal discharge or change in colour, 2) reported acute pain or sensitivity in the sinus regions and 3) mucopurulent discharge on examination. Minor criteria include reported symptoms, examination signs, doctor's decision to treat and improvement after at least 14 days. Major criteria for the otological exacerbation are 1) reported acute ear pain or sensitivity, 2) reported acute ear discharge, 3) ear discharge on examination and 4) signs of otitis media in otoscopy. Minor criteria are reported acute hearing problems, signs of acute complication, and doctor's decision to treat., Conclusion: These definitions might offer a useful outcome measure for primary ciliary dyskinesia research in different settings. They should be validated in future studies and trials together with other potential outcomes, to assess their usability., Competing Interests: Conflict of interest: No potential conflict of interest relevant to this article was reported. Conflict of interest: A-L.M.L. Poirrier received speaker honorarium from GSK outside the submitted work. Conflict of interest: J- F. Papon reports personal fees from Sanofi, GSK, Medtronic and ALK outside the submitted work., (Copyright ©The authors 2024.)

Importance: Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity., Objective: To characterize otologic disease among participants with PCD using data from the Ear-Nose-Throat Prospective International Cohort., Design, Setting, and Participants: This cross-sectional analysis of baseline cohort data from February 2020 through July 2022 included participants from 12 specialized centers in 10 countries. Children and adults with PCD diagnoses; routine ear, nose, and throat examinations; and completed symptom questionnaires at the same visit or within 2 weeks were prospectively included., Exposures: Potential risk factors associated with increased risk of ear disease., Main Outcomes and Measures: The prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations, including potential factors associated with increased risk of ear inflammation and hearing impairment., Results: A total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72.4] years; 186 (47%) female). Of the included participants, 204 (51%) reported ear pain, 110 (28%) reported ear discharge, and 183 (46%) reported hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion-usually bilateral-was the most common otoscopic finding among 121 of 384 (32%) participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed for 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed for 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems associated with ear inflammation (autumn vs spring: odds ratio, 2.40; 95% CI, 1.51-3.81) and age 30 years and older for hearing impairment (41-50 years vs ≤10 years: odds ratio, 3.33; 95% CI, 1.12-9.91)., Conclusion and Relevance: In this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.