scholarly journals A Retrospective Review of the Contribution of Rare Diseases to Paediatric Mortality in Ireland

2020 ◽  
Author(s):  
Emer Anne Gunne ◽  
Cliona McGarvey ◽  
Karina Hamilton ◽  
Eileen Treacy ◽  
Deborah Lambert ◽  
...  

Abstract 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 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.

2020 ◽  
Author(s):  
Emer Anne Gunne ◽  
Cliona McGarvey ◽  
Karina Hamilton ◽  
Eileen Treacy ◽  
Deborah Lambert ◽  
...  

Abstract 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 life-threatening or chronically debilitating diseases that affect 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 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 subcategorized 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. 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 only 42% of RD cases with the remainder identified using death certificate narrative records. RD patients occupied 84% of bed days used by children <15 years discharged deceased in the analysis period 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.


2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Emer Gunne ◽  
Cliona McGarvey ◽  
Karina Hamilton ◽  
Eileen Treacy ◽  
Deborah M. Lambert ◽  
...  

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.


2020 ◽  
Author(s):  
Emer Anne Gunne ◽  
Cliona McGarvey ◽  
Karina Hamilton ◽  
Eileen Treacy ◽  
Deborah Lambert ◽  
...  

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 Intelligence 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 <15yrs, 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.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Reka Maria Blazsik ◽  
Patrick Emanuel Beeler ◽  
Karol Tarcak ◽  
Marcus Cheetham ◽  
Viktor von Wyl ◽  
...  

Abstract Background Little is known about the impact of rare diseases on inpatient outcomes. Objective To compare outcomes of inpatients with 0, 1, or > 1 rare disease. A catalogue of 628 ICD-10 coded rare diseases was applied to count rare diseases. Design Retrospective, cross-sectional study. Subjects 165,908 inpatients, Swiss teaching hospital. Main measures Primary outcome: in-hospital mortality. Secondary outcomes: length of stay (LOS), intensive care unit (ICU) admissions, ICU LOS, and 30-day readmissions. Associations with single and combined rare diseases were analyzed by multivariable regression. Key results Patients with 1 rare disease were at increased risk of in-hospital death (odds ratio [OR]: 1.80; 95% confidence interval [CI]: 1.67, 1.95), combinations of rare diseases showed stronger associations (OR 2.78; 95% CI 2.39, 3.23). Females with 1 rare disease had an OR of 1.69 (95% CI 1.50, 1.91) for in-hospital death, an OR of 2.99 (95% CI 2.36, 3.79) if they had a combination of rare diseases. Males had an OR of 1.85 (95% CI 1.68, 2.04) and 2.61 (95% CI 2.15, 3.16), respectively. Rare diseases were associated with longer LOS (for 1 and > 1 rare diseases: increase by 28 and 49%), ICU admissions (for 1 and > 1: OR 1.64 [95% CI 1.57, 1.71] and 2.23 [95% CI 2.01, 2.48]), longer ICU LOS (for 1 and > 1 rare diseases: increase by 14 and 40%), and 30-day readmissions (for 1 and > 1: OR 1.57 [95% CI 1.47, 1.68] and 1.64 [95% CI 1.37, 1.96]). Conclusions Rare diseases are independently associated with worse inpatient outcomes. This might be the first study suggesting even stronger associations of combined rare diseases with in-hospital deaths, increased LOS, ICU admissions, increased ICU LOS, and 30-day readmissions.


Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1000
Author(s):  
Nike Walter ◽  
Susanne Bärtl ◽  
Volker Alt ◽  
Markus Rupp

Pediatric osteomyelitis remains challenging to treat. Detailed epidemiological data are required to estimate future developments. Therefore, we aimed to analyze how the incidence has changed over the last decade depending on age, gender, osteomyelitis subtype, and anatomical localization. Cases were quantified for patients aged 20 years or younger, using yearly reported ICD-10 diagnosis codes from German medical institutions for the time period 2009 to 2019. Incidence rates of osteomyelitis increased by 11.7% from 8.2 cases per 100,000 children in 2009 to 9.2 cases per 100,000 children in 2019. The age-specific incidence rate revealed the highest occurrence of osteomyelitis in patients aged 10–15 years (15.3/100,000 children), which increased by 23% over the observation period, followed by the age group 5–10 years (9.7/100,000 children). In 2019, out of all diagnoses, 39.2% were classified as acute, 38.4% as chronic, and 22.4% were unspecified, whereby chronic cases increased by 38.7%. The lower extremity was mainly affected, with 58.9% of osteomyelitis diagnoses in 2019. In conclusion, pediatric osteomyelitis is a serious issue, even in a developed and industrialized country such as Germany. Considering the recent incidence increase, the permanent need for appropriate treatment should let pediatricians and orthopedic surgeons deal with diagnosis and treatment protocols.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Mercedes Guilabert ◽  
Alba Martínez-García ◽  
Marina Sala-González ◽  
Olga Solas ◽  
José Joaquín Mira

Abstract Objective To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in Spain involving patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER). A modified version of the PREM IEXPAC [Instrumento para evaluar la Experiencia del Paciente Crónico] instrument was used (IEXPAC-rare-diseases). Scores ranged between 0 (worst experience) and 10 (best experience). Results A total of 261 caregivers (in the case of paediatric population) and patients with rare diseases (response rate 54.4%) replied. 232 (88.9%) were adult patients and 29 (11.1%) caregivers of minor patients. Most males, 227 (87%), with an average age of 38 (SD 13.6) years. The mean time since confirmation of diagnosis was 7.8 (SD 8.0) years. The score in this PREM was 3.5 points out to 10 (95%CI 3.2–3.8, SD 2.0). Caregivers of paediatric patients scored higher, except for coordination of social and healthcare services. Conclusions There are wide and important areas for improvement in the care of patients with rare diseases. This study involves a first assesment of the experience of patients with rare diseases in Spain.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stine Grønseth ◽  
Tormod Rogne ◽  
Raisa Hannula ◽  
Bjørn Olav Åsvold ◽  
Jan Egil Afset ◽  
...  

Abstract Background Pneumocystis pneumonia (PCP) severely menaces modern chemotherapy and immunosuppression. Detailed description of the epidemiology of Pneumocystis jirovecii today is needed to identify candidates for PCP-prophylaxis. Methods We performed a 12-year retrospective study of patients with P. jirovecii detected by polymerase chain reaction in Central Norway. In total, 297 patients were included. Comprehensive biological, clinical and epidemiological data were abstracted from patients’ medical records. Regional incidence rates and testing trends were also assessed. Results From 2007 to 2017 we found a 3.3-fold increase in testing for P. jirovecii accompanied by a 1.8-fold increase in positive results. Simultaneously, regional incidence rates doubled from 5.0 cases per 100,000 person years to 10.8. A majority of the study population had predisposing conditions other than human immunodeficiency virus (HIV). Hematological (36.0%) and solid cancers (25.3%) dominated. Preceding corticosteroids were a common denominator for 72.1%. Most patients (74.4%) presented with at least two cardinal symptoms; cough, dyspnea or fever. Main clinical findings were hypoxia, cytopenias and radiological features consistent with PCP. A total of 88 (29.6%) patients required intensive care and 121 (40.7%) suffered at least one complication. In-hospital mortality was 21.5%. Three patients (1.0%) had received prophylaxis. Conclusions P. jirovecii is re-emerging; likely due to increasing immunosuppressants use. This opportunistic pathogen threatens the life of heterogenous non-HIV immunosuppressed populations currently at growth. Corticosteroids seem to be a major risk factor. A strategy to increase prophylaxis is called for.


Author(s):  
Olena Seminog ◽  
Uy Hoang ◽  
Michael Goldacre ◽  
Anthony James

Abstract Background There is a lack of information on changes in hospital admission rates for childhood-onset schizophrenia (COS), or on patient characteristics, to inform clinical research and health service provision. Aims To report age- and sex-specific incidence rates of hospital admissions and day patient care for schizophrenia (ICD-10 F20) and non-affective psychosis (ICD-10 F20-29), by year of occurrence and age, in childhood and adolescence. Methods Population-based study using person-linked data for England (available 2001–2016); time-periods in single years and 4-year groups. Results Hospitalised incidence for schizophrenia increased with increasing age, from 0.03 (95% confidence interval (CI) 0.02–0.05) and 0.01 (0–0.01) per 100,000 in, respectively, males and females aged 5–12 years, to 3.67 (3.44–3.91) in males and 1.58 (1.43–1.75) in females aged 13–17 years. There was no gender difference in hospitalised incidence rates in children aged 5–12, but in 13–17 years old, there was a male excess. Rates for schizophrenia were stable over time in 5–12 years old. In ages 13–17, rates for schizophrenia decreased between 2001–2004 and 2013–2016 in males, from 6.65 (6.04–7.31) down to 1.40 (1.13–1.73), and in females from 2.42 (2.05–2.83) to 1.18 (0.92–1.48). The hospitalisation rates for schizophrenia and non-affective psychosis, combined, in 13–17 years old decreased in males from 14.20 (13.30–15.14) in 2001–2004 to 10.77 (9.97–11.60) in 2013–2016, but increased in females from 7.49 (6.83–8.20) to 10.16 (9.38–11.00). Conclusions The study confirms that childhood-onset schizophrenia is extremely rare, with only 32 cases identified over a 15-year period in the whole of England. The incidence of schizophrenia and non-affective psychosis increased substantially in adolescence; however, the marked reduction in the proportion of those diagnosed with schizophrenia in this age group suggests a possible change in diagnostic practice.


Stroke ◽  
2021 ◽  
Vol 52 (Suppl_1) ◽  
Author(s):  
Robert J Stanton ◽  
Eleni Antzoulatos ◽  
Elisheva R Coleman ◽  
Felipe De Los Rios La Rosa ◽  
Stacie L Demel ◽  
...  

Background: Hemorrhagic transformation (HT) of ischemic stroke can have devastating consequences, leading to longer hospitalizations, increased morbidity and mortality. We sought to identify the rate of HT in stroke patients not treated with tPA within a large, biracial population. Methods: The GCNKSS is a population-based stroke epidemiology study from five counties in the Greater Cincinnati region. During 2015, we captured all hospitalized strokes by screening ICD-9 codes 430-436 and ICD-10 codes I60-I68, and G45-46. Study nurses abstracted all potential cases and physicians adjudicated cases, including classifying the degree of HT. Patients treated with thrombolytics were excluded. Incidence rates per 100,000 and associated 95% confidence intervals (CI) were estimated for HT cases, age and sex adjusted to the 2000 US population. Multiple logistic regression was used to examine risk factors associated with HT. Results: In 2015, there were 2301 ischemic strokes included in the analysis. Of these 104 (4.5%) had HT; 23 (22.1%) symptomatic, 55 (52.9%) asymptomatic and 26 (25%) unknown. Documented reasons for not receiving tPA in these patients were: time (71, 68.3%), anticoagulant use (1, 1.0%), other (18,17.3%) and unknown (14, 13.5%), which were not significantly different compared to those without HT. Only 29/104 (18.3%) had HT classified as PH-1 or PH-2. The age, sex and race-adjusted rate of HT was 9.8 (7.9, 11.6) per 100,000. The table shows rates of potential risk factors and the adjusted odds of developing HT. 90 day all-cause case fatality for patients with HT was significantly higher, 27.9% vs. 15.7%, p<0.0001. Conclusion: We found that 4.5% of non-tPA treated IS patients had HT. These patients had more severe strokes, were more likely to have abnormal coagulation tests or anticoagulant use, and were more likely to die within 90 days. We also report the first population-based incidence rate of HT in non-tPA treated of 9.8/100,000, a rate similar to the incidence of SAH.


2018 ◽  
Vol 37 (01) ◽  
pp. 7-12
Author(s):  
Timóteo Almeida ◽  
Fernanda Almeida ◽  
Luidia Giacomini ◽  
Andressa Niederauer ◽  
Anna Cho ◽  
...  

Objective Spontaneous intracerebral hemorrhage is responsible for 20% of all cases of cerebrovascular accidents, which might lead to functional disabilities and death. There are few epidemiological data on spontaneous intracerebral hemorrhage in Brazil, and more specifically in the southern region of the country. Methods We reviewed data of 221 patients with intracerebral hemorrhage who attended our department between January of 2004 and December of 2013 and were registered as I61 and I62 according to the 10th edition of the International Classification of Diseases and Related Health Problems (ICD-10). Results From the 221 cases, 53.8% were male, and the median age was 63 years old. Arterial hypertension was reported in 62.4% of the patients. Surgical treatment was performed in 28.9% of all cases and pneumonia affected 19.9%. In 73.4% of the cases, the patients died or were severely disabled at discharge. We found an association of heart disease, coagulopathies, chronic kidney disease, anticoagulant drugs use, surgical treatment, and pneumonia with a poorer outcome. Conclusion The present study describes the epidemiological profile of intracerebral hemorrhage in a southern Brazilian population during a 10-year period.


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