Neonatal manifestations in Primary Ciliary Dyskinesia: a multinational cohort study

Background: Neonatal respiratory distress (NRDS) and other neonatal manifestations are reported commonly in patients with Primary Ciliary Dyskinesia (PCD): Despite this, most patients remain undiagnosed until much later in life. We calculated the prevalence of neonatal manifestations in a large multinational dataset and assessed if they were associated with earlier PCD diagnosis. Methods: We included 13 datasets from the international PCD (iPCD) cohort, with almost complete information on the neonatal period. We calculated the prevalence of reported NRDS and separately the prevalence of any reported neonatal manifestation (including any of the following: NRDS, rhinitis, cough, pneumonia, admission to NICU, mechanical ventilation, need of oxygen, hydrocephalus). Further, we compared age of diagnosis in patients with and without neonatal manifestations using poisson regression models. Results: We included 1175 patients with information on NRDS and 1053 with information on any neonatal manifestation. Prevalence of NRDS was 40% (469/1175) and of any neonatal manifestation 66% (696/1053). After adjusting for sex and laterality, mean age of diagnosis was lower in patients who reported neonatal symptoms (12 versus 14 years, p Conclusion: PCD patients who reported neonatal manifestations were diagnosed younger, however age of diagnosis was still high. Increased awareness and close collaboration with neonatologists is needed to diagnose PCD earlier in patients with early life symptoms. Funding: FP7 grant 305404, SNF 320030_173044, COST BM1407