Exploring demographic and genetic correlates of hearing outcomes in children with primary ciliary dyskinesia: an observational study

Objective This retrospective observational study aimed to examine the associations among genetic mutations, demographic characteristics and hearing outcomes in children diagnosed with primary ciliary dyskinesia (PCD). By identifying potential predictors of adverse auditory outcomes, we hope to inform future approaches to clinical care and intervention. Design A total of 84 children, aged 1–17 years with confirmed PCD, underwent audiological assessments, including age-appropriate audiometry and tympanometry. Hearing loss severity scores (HLSS) were calculated (from 1 (worse hearing) to 4 (better hearing)) using hearing threshold data and analysed alongside tympanometry findings, in relation to age, sex, ethnicity and specific genetic variants, to determine factors influencing hearing outcomes. Results Children with oligocilia-associated genetic mutations demonstrated significantly worse hearing thresholds (mean HLSS 2.13) compared with the other groups (mean HLSS 3.44) (p<0.001) and had a greater incidence of type B tympanograms (p<0.001). Middle ear effusions were found to improve significantly with increasing age (p<0.001). Male participants showed significantly poorer tympanometry outcomes (p=0.017). Caucasian participants were found to have better hearing thresholds (mean=3.50) versus non-Caucasian children (mean=3.25) (p=0.018). Implications These results highlight key clinical considerations for the management of hearing in paediatric PCD. Routine, early audiological evaluation should be standard practice. Tympanostomy tube insertion should be considered carefully, given that some children exhibit age-related improvement. Male children may warrant more intensive monitoring for middle ear pathology. Genetic profiling may offer prognostic value and support a more individualised approach to management.