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.