Otolaryngological burden of disease in children with primary ciliary dyskinesia in Victoria, Australia.

OBJECTIVES: The aim of this study was to summarize the otolaryngological manifestations amongst children with primary ciliary dyskinesia (cwPCD) to improve diagnosis, investigations and management amongst otolaryngologists.

METHODS: A retrospective review of primary ciliary dyskinesia (PCD) diagnoses at our institution over an 8-year period between January 2014 and October 2022 was conducted. Patient characteristics, diagnosis, otolaryngological symptomatology, treatment and outcomes were recorded.

RESULTS: 24 patients were identified. Thirteen patients (54%) had documented conductive hearing loss on audiological evaluation; with 11 (85%) requiring hearing aids. Six patients (25%) underwent middle ear ventilation tube (MEVT) insertion with 67% experiencing post-MEVT otorrhoea. Twenty children (83%) reported chronic nasal discharge however only 3 (13%) reported nasal obstruction. Nine patients (38%) had symptoms consistent with sleep disordered breathing with 79% of them requiring operative management with adenotonsillectomy.

CONCLUSION: Middle ear effusion is common amongst cwPCD and should be managed with conservative measures due to the significant burden of post-MEVT otorrhoea. Sinonasal symptoms rarely need surgical intervention. Many otolaryngological symptoms of PCD are often underreported, particularly sleep-disordered breathing. Paediatric PCD patients should be managed in a multidisciplinary team with routine and tailored therapies to manage all aspects of the condition.