A Retrospective Review of the Contribution of Rare Diseases to Paediatric Mortality in Ireland
Aims: To ascertain the number of paediatric deaths (0-14 years) with an underlying rare disease (RD) in the Irish Republic between the years 2006-2016, and to analyse bed usage by a paediatric cohort of RD inpatients prior to in-hospital death.Background: Rare diseases are often chronically debilitating and sometimes life-threatening diseases, affecting fewer than 5 per 10,000 people in the EU. Although individually rare, collectively RDs are common, with a prevalence of 3.5-5.9% of the
... 5.9% of the population. Under-representation of RDs in hospital healthcare coding systems leads to a paucity of RD epidemiological data required for healthcare planning. Studies have cited variable incidence rates for RD, however the burden of RDs to healthcare services still remains unclear. This study represents a thorough effort to identify the percentage of child mortality and paediatric bed usage attributable to rare diseases in Ireland addressing a major gap in the RD field.Methods: Retrospective analysis of paediatric death registration details for the Irish Republic in the 11-year period 2006-2016 from the National Paediatric Mortality Register. Data was subcategorised as Neonatal (0-28 days), Post Neonatal (29 days < 1 year) and older (1-14 years). Bed usage data (ICD-10 code, narrative and usage) of paediatric inpatients who died during hospitalisation from January 2015 to December 2016 was extracted from the National Quality Assurance Intelligence System of in-patient data. Orphacodes were assigned to RD cases from narrative records of both datasets.Results: There were 4044 deaths registered from 2006-2016, aged <15yrs, of these 2368 (58.6%) had an underlying RD. Stratifying by age group; 55.6% (1140/2050) of neonatal deaths had an RD, 57.8% (450/778) post-neonatal, and 64% (778/1216) of children >1yr. Mortality coding using ICD-10 codes identified 42% of RD cases with the remainder identified using death certificate narrative records. RD patients occupied 87% of bed days used by children <15 years who died during hospitalisation from January 2015 to December 2016.Conclusion: Additional routine RD coding is necessary to identify RDs within Irish healthcare systems to enable better healthcare planning. RD patients are overrepresented in paediatric mortality statistics and inpatient length of stay during hospital admission prior to death.