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.

Centro Respiratorio Hospital de Niños Ricardo Gutierrez Buenos Aires C1425EFD Argentina

Departamento de Pediatría Fundación Santa Fe Clínica de Neumología Pediátrica Compensar Bogotá 12390 Colombia

Department of Neonatology University Children's Hospital Basel UKBB 4056 Basel Switzerland

Department of Paediatrics 2nd Faculty of Medicine Charles University and University Hospital Motol 38FQ FX Prague Czech Republic

Department of Pediatric Pulmonology Hacettepe University Faculty of Medicine 06230 Ankara Turkey

Department of Pediatric Pulmonology Marmara University School of Medicine Istanbul 34854 Turkey

Department of Respiratory Medicine Concord Hospital Clinical School University of Sydney Sydney NSW 2138 Australia

Department of Respiratory Sciences College of Life Sciences University of Leicester Leicester LE1 7RH UK

Institute of Social and Preventive Medicine University of Bern 3012 Bern Switzerland

Medical School University of Cyprus 596G R2 Nicosia Cyprus

Paediatric Department of Allergy and Lung Diseases Oslo University Hospital 0372 Oslo Norway

Paediatric Respiratory Medicine Children's University Hospital of Bern University of Bern 3010 Bern Switzerland

Primary Ciliary Dyskinesia Centre Department of Women's and Children's Health University of Padova 1848 Padova Italy

Primary Ciliary Dyskinesia Centre NIHR Respiratory Biomedical Research Centre University of Southampton Southampton SO 16 6YD UK

Respiratory Critical Care and Anaesthesia UCL Great Ormond Street Institute of Child Health London WC1N 1EH UK

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Evaluation of a Clinical Index as a Predictive Tool for Primary Ciliary Dyskinesia