Describing the ear, nose, and throat symptom burden in a cohort of Australian patients with primary ciliary dyskinesia

Background: Primary ciliary dyskinesia (PCD) is a rare disorder of ciliary motility, characterised by chronic rhinosinusitis (CRS), chronic otitis media with effusion, and recurrent respiratory tract infections that eventually lead to bronchiectasis. Despite almost all PCD patients having ear, nose, and throat (ENT) complications, there are few published studies on the progression of these symptoms with treatment. The Sino-Nasal Outcome Test-22 (SNOT-22) measures CRS symptom severity and its impact on quality of life, it is routinely implemented at Concord Repatriation General Hospital (CRGH)'s PCD clinic. The minimal clinically important difference (MCID) for total SNOT-22 scores has been demonstrated in published metrics to be 9 for surgical management and 8 for medical therapy, while MCID values for rhinologic, extra- nasal rhinologic, ear/facial, psychological dysfunction, and sleep symptom domain scores have been reported as 3.8-3.9, 2.4-2.5, 3.2-3.3, 3.4-3.9, and 2.9 respectively. This study aimed to evaluate changes in SNOT-22 scores and audiometryin a cohort of Australian patients with PCD treated at CRGH from 2015 to 2022, to assess whether optimal multidisciplinary team (MDT) management lead to a discernible reduction in ENT symptom burden. Methods: This study was a single site, retrospective medical records audit using the CRGH PCD patient database to review the SNOT-22 scores and audiometry thresholds of 103 patients from 2015 to 2022. Included patients had a confirmed diagnosis of PCD, were aged 6+ years, and had recorded at least one SNOT-22. Each patient's initial results formed their "Baseline", and were compared to their average results throughout treatment. SNOT-22 scores were described using overall and symptom domains (rhinologic, extra-nasal rhinologic, ear/facial, psychological dysfunction, sleep dysfunction). Data were analysed using the Wilcoxon signed-rank test and paired T-tests. All analyses were performed using Statistical Package for the Social Sciences (SPSS) software. A P value <0.05 was considered statistically significant. Results: From January 2015 to January 2022, 103 patients were screened, of whom 42 met the inclusion criteria for this study. Twenty-four of these patients recorded 2 or more SNOT-22 questionnaires, with an average baseline of 41.9 [standard deviation (SD): 13.7]. Significant improvement in SNOT-22 totals (9.0 +/- 12.4, P<0.001) and domain scores (rhinologic: 2.5 +/- 4.7, P<0.05; extra-nasal: 1.2 +/- 2.7, P<0.05; ear/facial: 1.9 +/- 4.1, P<0.05; psychological: 3.4 +/- 5.7, P<0.05; sleep: 2.0 +/- 4.6, P<0.05) were reported. While this surpassed the MCID for overall SNOT-22 scores, none of the domain changes exceeded their respective MCIDs. Although a small improvement of 0.7 (SD: 3.1) dB was also noted in audiometry, this was not significant (P=0.52). Conclusions: These results confirmed the efficacy of the MDT approach to PCD, demonstrating that optimal management in a multidisciplinary clinic reduces CRS symptom burden and leads to a discernible improvement in quality of life. This may be mediated by a global improvement in ENT symptoms, without any particular symptom group experiencing a meaningful change.