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The Impact of Age of Diagnosis in Children with Primary Ciliary Dyskinesia
Dvir Gatt1, Michelle Shaw2, Fiona Kritzinger1
1Division of Respiratory Medicine, and.
Insights
Early diagnosis of primary ciliary dyskinesia (PCD) is linked to better lung function in children. Delayed diagnosis (age ≥8) in PCD patients correlates with lower forced expiratory volume in 1 second, highlighting the importance of timely intervention.
Area of Science:
- Pediatric Pulmonology
- Rare Genetic Diseases
- Clinical Outcomes Research
Background:
- Primary ciliary dyskinesia (PCD) symptoms typically appear in infancy, but diagnosis is often delayed.
- The impact of diagnostic age on long-term clinical outcomes in PCD remains under-investigated.
- Early identification is crucial for managing chronic respiratory conditions in children.
Purpose of the Study:
- To investigate the association between the age of diagnosis for PCD and subsequent long-term clinical outcomes.
- To determine if earlier diagnosis of PCD in pediatric patients leads to improved health trajectories.
- To quantify the effects of delayed PCD diagnosis on lung function and disease exacerbations.
Main Methods:
- Retrospective cohort study of 110 patients diagnosed with PCD between 2000 and 2022.
- Patients categorized into three groups based on age at diagnosis: early (<1 year), typical (1-7 years), and late (8-14 years).
- Comparison of clinical outcomes including forced expiratory volume in 1 second (FEV1) and pulmonary exacerbation rates.
Main Results:
- Early diagnosis was associated with higher rates of neonatal respiratory distress (80%) and laterality defects (64%).
- Patients diagnosed early (<1 year) or typically (1-7 years) exhibited significantly better FEV1 at age 10 compared to late-diagnosed patients (93.5% and 93.1% vs. 80.2%).
- Late diagnosis (≥8 years) correlated with significantly higher annual rates of pulmonary exacerbations (1.95 vs. 0.75 per year).
Conclusions:
- Delayed diagnosis of PCD in childhood is associated with persistently lower lung function (FEV1).
- While the rate of lung function decline did not differ post-diagnosis, earlier identification is crucial.
- These findings underscore the detrimental impact of delayed diagnosis on the long-term health of pediatric PCD patients.
Abstract:
Rationale: The typical symptoms of primary ciliary dyskinesia (PCD) manifest after birth and in early infancy, but diagnosis is often not confirmed during infancy. There is currently a lack of evidence in PCD regarding the impact of the age of the patient at the time of diagnosis on clinical outcomes. Objective: To determine whether early diagnosis of PCD is related to improved long-term outcomes. Methods: This was a retrospective study of patients diagnosed with PCD between 2000 and 2022. We divided our cohort into three groups according to the age at diagnosis: (1) early diagnosis (age <1 year), typical diagnosis (age 1-7 years), and late diagnosis (age 8-14 years). We compared various clinical long-term outcomes between the groups. Results: During the study period, 110 patients were included in the analysis, with 41 patients in the early diagnosis group, 35 in the typical diagnosis group, and 34 in the late diagnosis group. Unexplained neonatal respiratory distress and organ laterality defect were more common in the early diagnosis group, with respective rates in the early, typical, and late diagnosis groups of 80%, 53%, and 61% for neonatal respiratory distress (P = 0.045) and 64%, 50%, and 18% for laterality defect (P < 0.001). At the end of the first decade of life, patients in the early and typical-age diagnosis groups had better forced expiratory volume in 1 second compared with the late diagnosis group (93.5% and 93.1% vs. 80.2%; P = 0.002), but there was no significant change in the annual rate of decline between the groups when diagnosis had been confirmed. Patients diagnosed late had significantly higher rates of pulmonary exacerbations than those diagnosed at a typical age (1.95 vs. 0.75 per year; P < 0.01) Conclusions: Late diagnosis (age ≥8 years) was associated with lower forced expiratory volume in 1 second throughout childhood, although, once diagnosed, the annual rate of decline was not different. These findings demonstrate the negative effect of delayed diagnosis in pediatric PCD.
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