Late diagnosis of infants with PCD and neonatal respiratory distress

Abstract Neonatal respiratory distress (NRD) is common among infants with primary ciliary dyskinesia (PCD), but we do not know whether affected neonates are diagnosed timely. We used data from the international PCD cohort study (iPCD), including only participants diagnosed between 2000 and 2019 using current diagnostic criteria. We assessed the proportion of patients with PCD with a history of NRD and their age at diagnosis, stratifying by presence of laterality defects. First we analysed data from the entire cohort and then from a subgroup including children diagnosed using stricter criteria. Among the 1375 patients in the study, 45% had a history of NRD and 42% a laterality defect. Out of the 476 children with definite PCD diagnosis, 55% had a history of NRD and 50% a laterality defect. PCD was diagnosed at a median age of 3.4 years in this group, varying from less than 1 year in Norway and Cyprus to 10 years in Turkey. Overall, 30% of children with PCD were diagnosed during the first 12 months of life. This varied from 13% in those with situs solitus and no NRD, to 21% in those with situs solitus and NRD, 33% in those with situs anomalies but no NRD, and 52% in those with both NRD and situs anomalies. Our results suggest that we need to improve our knowledge of the neonatal presentation of infants with PCD, and apply this knowledge in neonatology so that these patients will receive appropriate care sooner, at the start of their extrauterine life. What is already known on this topic? Many patients with primary ciliary dyskinesia (PCD) present with neonatal respiratory distress (NRD). The neonatal period would therefore be an ideal window of opportunity to diagnose PCD early, before long-term damage to the lungs has occurred. Despite this, PCD is usually diagnosed late in life. What this study adds? 55% of children with PCD in this large multinational dataset had a history of NRD. Among these, PCD was diagnosed early in those with laterality defects (median age 0.9 years) but late in those with situs solitus (5.9 years). This suggests that neonatologists and paediatricians do not suspect PCD as a cause of NRD in term infants unless it is accompanied by laterality defects.