Hearing and Developmental Challenges in Patients with Primary Ciliary Dyskinesia

Introduction: Primary ciliary dyskinesia (PCD) is a hereditary condition of ciliary dysfunction often resulting in otologic issues. This study aims to characterize the otologic sequelae and impact of hearing loss (HL) associated with PCD.

Methods: Retrospective chart review was performed for patients presenting to a tertiary care center with a diagnosis of PCD, confirmed either with positive genetic testing or clinical criteria between 2012-2023. HL was determined by audiograms. Information regarding otologic surgeries, speech concerns, hearing amplification, and individualized education plans (IEPs) was collected.

Results: Of 40 patients with PCD, 26 (65.0%) had confirmed HL, predominantly in the mild range. Of these, 23 patients (88.5%) underwent at least one tympanostomy tube placement, with a median of 3 (range 1-7) procedures. 21 of these patients (91.3%) experienced post-tympanostomy tube otorrhea, while 11/19 (57.9%) patients with post-surgical audiograms had persistent HL. Of the patients with HL, 14 (53.8%) had documented speech concerns, 5 patients (19.2%) required an IEP in school, and 4 (15.4%) required hearing amplification. Among patients who received confirmatory genetic testing under the age of 10, the median age at the time of data collection was 6.88, while the median age for those with genetic testing at 10 or older was 20.35 (p < 0.001).

Conclusions: Mild HL, from effusions, is a common otologic manifestation of PCD, often requiring multiple tympanostomy tubes. Tubes result in high rates of otorrhea and often fail to normalize hearing. Patients with PCD and HL are at risk for speech delay and academic challenges in childhood. Earlier genetic diagnosis offers opportunities for proactive audiologic monitoring and early intervention to mitigate developmental delays.