Background: Primary ciliary dyskinesia (PCD) can manifest from birth, however we lack knowledge about how frequent neonatal problems are in people with PCD. We aimed to assess prevalence of reported respiratory problems in the first month of life, and study differences by age at reporting.

Methods: We sent a questionnaire survey to all patients ?14 years and to parents of children registered in the Swiss PCD Registry, asking about neonatal respiratory problems and need for management at birth.

Results: 64 out of 99 invited (67%) completed the survey (median age 24 years, IQR 16-48). 44 (69%) were adults and 35 (55%) female. Median birth weight was 3345gr (IQR 2895-3750); 9 participants were born preterm. 51 (80%) reported neonatal problems. Respiratory distress was the most commonly reported problem by 41 (64%), followed by cough (31; 48%), and rhinitis (27; 42%). 20 (31%) people reported a respiratory infection. 40 (63%) people were transferred to a neonatal care unit; of them 34 (53%) required oxygen, 6 (9%) ventilation and 22 (34%) antibiotics. Neonatal rhinitis was reported less often by adults. 94% of participants knew about having or not respiratory distress; fewer knew about cough (80%) or rhinitis (73%). Parents and adolescents gave more complete answers compared to adults.

Conclusion: We found high prevelance of neonatal problems and good knowledge about history of respiratory distress. Lack of information could have led to underreporting of nonspecific symptoms, especially in adults. Our results highlight the need to increase awareness of PCD among neonatologists so it is considered in full-term newborns with respiratory problems, to achieve earlier diagnosis.

Funding: SNF PZ00P3_185923, BEAT-PCD