A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Abstract

Aims To ascertain the number of paediatric deaths (0–14 years) with an underlying rare disease in the Republic of Ireland between the years 2006–2016, and to analyse bed usage by a paediatric cohort of rare disease inpatients prior to in-hospital death. Background Rare diseases are often chronically debilitating and sometimes life-threatening diseases, with the majority (69.9%) of rare diseases being of paediatric onset. The Orphanet database contains information on 6172 unique rare diseases. Under-representation of rare diseases in hospital healthcare coding systems leads to a paucity of rare disease epidemiological data required for healthcare planning. Studies have cited variable incidence rates for rare disease, however the burden of rare diseases 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 the Republic of Ireland, thus addressing a major gap in the rare disease field. Methods Retrospective analysis of paediatric death registration details for the Republic of Ireland 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 Improvement System of in-patient data. Orphacodes were assigned to rare disease cases from ICD-10 codes or diagnostic narrative of both datasets. Results There were 4044 deaths registered from 2006–2016, aged < 15 years, of these 2368 (58.6%) had an underlying rare disease. Stratifying by age group; 55.6% (1140/2050) of neonatal deaths had a rare disease, 57.8% (450/778) post-neonatal, and 64% (778/1216) of children aged 1–14 years. Mortality coding using ICD-10 codes identified 42% of rare disease cases with the remainder identified using death certificate narrative records. Rare disease patients occupied 87% of bed days used by children < 15 years who died during hospitalisation from January 2015 to December 2016. Conclusion Additional routine rare disease coding is necessary to identify rare diseases within Irish healthcare systems to enable better healthcare planning. Rare disease patients are overrepresented in paediatric mortality statistics and in-patient length of stay during hospital admission prior to death.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

“…Care pathways and defined standards for rare conditions are lacking [ 12 ]. Consequently, people with RDs access a disproportionate level of health care resources [ 13 , 14 ]. The COVID-19 pandemic has further highlighted existing healthcare challenges for people with RDs and the need for more resilient healthcare systems which incorporate telemedicine [ 15 , 16 ].…”

Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017

“…En relación con los diagnósticos específicos, la anencefalia constituye la primera causa de muerte en los menores de 0 a 4 años de ambos sexos; este dato concuerda con lo documentado en Irlanda en neonatos de 0 a 28 días, cuyas defunciones aportaron el 51,58 % de la carga de mortalidad infantil de ese país entre 2006 y 2016 25 .…”

“…En otro estudio colombiano, se revelaron cifras cercanas a 22.361 fallecimientos perinatales atribuibles malformaciones congénitas, con tasas que oscilaron entre 205,81 y 74,18 por 10.000 nacidos vivos durante 10 años estudiados (24). En relación con los diagnósticos específicos, la anencefalia constituye la primera causa de muerte en los menores de 0 a 4 años de ambos sexos; este dato concuerda con lo documentado en Irlanda en neonatos de 0 a 28 días, cuyas defunciones aportaron el 51,58 % de la carga de mortalidad infantil de ese país entre 2006 y 2016 (25).…”

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

“…RD are generally difficult to diagnose, with many patients undergoing prolonged diagnostic journeys, termed the diagnostic odyssey, in order to obtain an accurate diagnosis [ 12 , 13 ]. Even when accurately diagnosed though, less than half of RD map to an International Classification of Disease (ICD) 10 code, with far fewer (< 20%) having a specific ICD 10 code, [ 14 ] resulting in most RD being under-recognized and under-counted within HCS databases (such as payor/insurance databases) [ 15 – 17 ] and myriad downstream effects, such as imprecise coding of RD patients and poor tracking and understanding of both RD patients and the diseases themselves. Further, without a diagnosis, it is often the case that a set of labs, notes, and other features (e.g., a computable phenotype) cannot be reliably or consistently used to identify RD patients.…”