Risk Stratification in Paediatric Primary Ciliary Dyskinesia (PCD)

<bold>Introduction:</bold> PCD is a genetic disorder characterised by otosinopulmonary infections. There are no risk stratification tools for predicting morbidity and lung disease progression in PCD. <bold>Objectives:</bold> To assess feasibility and use of a local risk stratification tool in PCD. <bold>Methods:</bold> A one-year bi-centre prospective study involving children with a confirmed diagnosis of PCD (classical ultrastructural defects and/or genetics). A locally implemented risk stratification tool based on age, lung function, microbiology, radiology, pulmonary exacerbations, adherence, nutrition and psychosocial state was used to score individuals as part of their annual comprehensive review process. <bold>Results:</bold> 103 children (27 male) with a mean age of 9 years (3 months – 17 years) and median FEV1 91% (range 43-106) were included. Each individual was allocated a score within the mild, moderate or severity category. Majority scored within the moderate category (48%) followed by the mild sub-group (32%). 20% of the cohort (n=21) were categorised as severe. In comparison to the mild cohort, individuals within the severe sub-group had lower indices of multiple deprivation (quintile-based) and lower median FEV1 (83% versus 95%). The commonest PCD-specific genetic mutations in the mild group included CCDC103, SPAG1 and DNAH11 compared to DNAH5 and CCDC39/40 in the severe category. No differences in ethnicity, age at diagnosis and gender between the two groups were noted. <bold>Conclusion:</bold> PCD specific risk stratification tools can be readily implemented as part of the annual comprehensive review process. Stratification tools can guide escalation of clinical care, monitor clinical outcomes and promote individualised action plans.