Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder causing chronic oto-sino-pulmonary disease from birth. Since diagnosis is often delayed into childhood or adulthood, early-life disease burdens remain poorly described.
PCD diagnosed in infancy carries significant oto-sino-pulmonary disease burden; audiologists seeing recurrent otitis media in very young children should consider flagging for PCD evaluation, though specific practice changes await fuller outcome data from this study.
Understanding the early hearing and ear disease trajectory in PCD can help audiologists identify and co-manage affected infants sooner, potentially reducing long-term auditory morbidity.
- 01PCD is a genetic disorder causing chronic ear, sinus, and lung disease starting at birth.
- 02Study characterises disease burden specifically in infants diagnosed with PCD, a relatively understudied window.
- 03Recurrent otitis media and hearing loss are common early manifestations of PCD.
- 04Early diagnosis in infancy may provide an opportunity for timely audiology and ENT intervention.
- 05Findings may inform multidisciplinary care pathways for PCD in the neonatal and infant period.
Primary ciliary dyskinesia causes chronic oto-sino-pulmonary disease from birth.
studysupportedInfants diagnosed with PCD experience significant early-life disease burden.
studypartially supported- PMID
- 42112810
- DOI
- 10.1002/ppul.71658.
- Journal
- Pediatric Pulmonology
- Publication type
- research_article
- Evidence level
- 4
- Population
- Infants diagnosed with primary ciliary dyskinesia
- Intervention
- Characterisation of early-life disease burden and clinical outcomes in PCD
Primary outcomes
Early-life disease burden in infants with PCD; Clinical outcomes associated with PCD diagnosed in infancy