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 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.

Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective

“…In adult PCD populations, persistent wet cough and nasal congestion on a daily basis remain key clinical features, though the age of symptom onset and presence of neonatal respiratory distress are often forgotten in these cases [ 10 ]. Chronic sinusitis with polyposis and male infertility, as well as female subfertility, are also frequently reported by adults with PCD; additionally, bronchiectasis is universally present in the adult PCD populations.…”

Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn

“…A recent cohort study of pediatric PCD patients showed that those with laterality defects were more likely to be diagnosed in infancy. Overall, 9.4% were diagnosed in the first two months of life and of these 78% had a laterality defect, while the entire study population had a typical PCD incidence of 48% laterality defect [ 85 ].…”

Genetic Testing for Neonatal Respiratory Disease

“…The mean age of diagnosis of children with PCD was 4.7 years in a prospective study, suggesting that an opportunity for early diagnosis is being missed [ 41 , 44 ]. An argument can be made that genetic testing is warranted in all neonates with respiratory distress persisting for >48 h that is not adequately explained by history and other laboratory findings yielding a specific diagnosis [ 46 ]. PCD results from DNA sequence variants in genes responsible for ciliary assembly and function.…”