Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress

Myrofora Goutaki, Florian S Halbeisen, Angelo Barbato, Suzanne Crowley, Amanda Harris, Robert A Hirst, Bülent Karadag, Vendula Martinu, Lucy Morgan, Christopher O'Callaghan, Ugur Ozçelik, Sergio Scigliano, Santiago Ucros, Panayiotis Yiallouros, Sven M Schulzke, Claudia E Kuehni, Myrofora Goutaki, Florian S Halbeisen, Angelo Barbato, Suzanne Crowley, Amanda Harris, Robert A Hirst, Bülent Karadag, Vendula Martinu, Lucy Morgan, Christopher O'Callaghan, Ugur Ozçelik, Sergio Scigliano, Santiago Ucros, Panayiotis Yiallouros, Sven M Schulzke, Claudia E Kuehni

Abstract

Neonatal respiratory distress (NRD) is common among infants with primary ciliary dyskinesia (PCD), but we do not know whether affected neonates receive a timely diagnosis. We used data from the international PCD cohort and assessed the proportion of patients with PCD who had a history of NRD and their age at diagnosis, stratifying by presence of laterality defects. First we analyzed data from all participants diagnosed after 2000, followed by individuals from a subgroup diagnosed using stricter criteria. Among the 1375 patients in the study, 45% had a history of NRD and 42% had laterality defects. Out of the 476 children with definite PCD diagnosis, 55% had a history of NRD and 50% had laterality defects. 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 situs anomalies and NRD. Our results suggest that we need to improve our knowledge of the neonatal presentation of infants with PCD and apply it so that these patients will receive appropriate care sooner.

Keywords: laterality defect; neonatal respiratory distress; orphan diseases; primary ciliary dyskinesia.

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flow chart showing the patients included for the different analyses performed. PCD: primary ciliary dyskinesia.
Figure 2
Figure 2
Age at diagnosis of PCD patients (n = 476) aged 0–19 years with definite PCD diagnosis, per clinical characteristics group. PCD: primary ciliary dyskinesia, NRD: neonatal respiratory distress.

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