The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
Child; Humans; Adult; Prevalence; Kaplan-Meier Estimate; Phenotype; Demography; Registries; Medical; adolescent; Societies; England/epidemiology; Mucopolysaccharidosis I/epidemiology/mortality/physiopathology; Wales/epidemiology
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and to determine the load likely to fall on health-care systems, it is necessary to understand the prevalence and natural progression of the disease especially with regard to life-expectancy. In general such data on the natural history of lysosomal storage diseases is sparse. METHODS: Analysis of prevalence and patient survival in MPS I disease using a unique longitudinal data set initiated and maintained over a period of more than 20 years by the Society for Mucopolysaccharide Diseases (UK). RESULTS: The birth prevalence of MPS I in England and Wales over the period 1981 to 2003 was 1.07/100,000 births and within +/- 5% of estimates reported in several studies that examined reasonably large populations. The median survival for MPS I patients (including all phenotypes irrespective of various treatments) was found by Kaplan-Meier analysis to be 11.6 years. This result was driven by the relatively poor survival of patients with the Hurler phenotype who, irrespective of any treatments received, had a median survival of 8.7 years; when censoring for receipt of bone marrow transplant (BMT) was implemented median survival of Hurler patients was diminished to 6.8 years. The difference between these survival curves was statistically significant by log rank test and can be attributed to beneficial effects of BMT and or selection of patients with superior prognosis for intervention with BMT. Survival curves for Hurler patients who received and did not receive BMT were very different. Probability of survival at 2 year after BMT was ~68% and was similar to this after 5 years (66%) and ten years (64%); the mean age of Hurler patients at receipt of BMT was 1.33 years (range 0.1 to 3 years). Follow up was insufficient to determine median survival of the milder phenotypes however, unsurprisingly, this was clearly superior to that for Hurler patients. CONCLUSION: The birth prevalence of MPS I in England and Wales is 1.07/100,000 and the median survival for MPS I patients is 11.6 years.
2008
Moore D; Connock MJ; Wraith E; Lavery C
Orphanet Journal Of Rare Diseases
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1186/1750-1172-3-24" target="_blank" rel="noreferrer">10.1186/1750-1172-3-24</a>
Establishing need for palliative care services for children/young people
Child; Female; Humans; infant; Male; Palliative Care; Adult; Infant Mortality; Incidence; adolescent; Preschool; infant; Newborn; cause of death; Epidemiologic Methods; mortality; Child Health Services/organization & administration; Wales/epidemiology
This article describes how epidemiology may be used effectively to provide hard statistical data upon which to justify and base the development of paediatric palliative nursing services within a defined locality. Through an analysis of mortality data this study identified the number of children and young people with life-limited (LL) conditions who met the criteria for paediatric palliative care (PPC) in South Glamorgan. Findings from this were then related to the provision of services, including nursing services, required to meet the PPC needs of children and those of their families within such a population. Outcomes identify the need for a multiprofessional/multiagency approach to care provision, including family nursing, respite and terminal care as well as postbereavement support. This study highlights how epidemiology may be used effectively to identify unmet needs and promote better systems of care delivery. Studies such as this strengthen the argument for nurses to cast aside what has been perceived as a hesitancy to use quantitative methods of research (Bonnell, 1999). Epidemiology, as a methodology, may now be deemed as yet another vital weapon in the nurse researchers' armoury aimed at providing evidence-based health care.
2003
Davies R
British Journal Of Nursing
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.12968/bjon.2003.12.4.11162" target="_blank" rel="noreferrer">10.12968/bjon.2003.12.4.11162</a>