scholarly journals The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era

2021 ◽  
Author(s):  
Georgios Kounidas ◽  
Heather Cruickshank ◽  
Stavroula Kastora ◽  
Stella Sihlabela ◽  
Zosia Miedzybrodzka
Keyword(s):  
Huntington Disease ◽  
Population Based ◽  
Service Planning ◽  
Published Data ◽  
Molecular Testing ◽  
Health Board ◽  
Prevalence Studies ◽  
Gene Expansion ◽  
The North ◽  
Regional Basis

Abstract Background Huntington disease prevalence was first estimated in Grampian, northern Scotland in 1984. Molecular testing has since increased ascertainment. Objective To estimate the prevalence of manifest Huntington disease and identified pre-symptomatic gene expansion carriers (IPGEC) in northern Scotland, and estimate the magnitude of biases in prevalence studies that rely upon routine coding in primary care records. Methods Cases were ascertained using North of Scotland genetic laboratory, clinic, and hospital records. Prevalence was calculated for manifest and IPGEC on 01/07/2016 and 01/01/2020 and compared with local published data. Results The prevalence of manifest Huntington disease in northern Scotland in 2020 was 14.6 (95% CI 14.3–15.3) per 100,000, and of IPGEC was 8.3 (95% CI 7.8–9.2) per 100,000. Whilst the population of northern Scotland decreased by 0.05% between 2016 and 2020, the number of manifest and identified pre-symptomatic gene expansion carriers increased by 7.4% and 23.3%, respectively. Manifest disease in Grampian increased by 45.9% between 1984 and 2020. More women than men had a diagnosis. General Practice coding underestimated symptomatic molecularly confirmed prevalence by 2.2 per 100,000 people. Conclusion Even in an area with previously high ascertainment, there has been a 45.9% increase in manifest Huntington disease over the last 30 years. Within our catchment area, prevalence varies between health board regions with similar community-based services. Such variation in prevalence could have major drug cost and service delivery implications, especially if expensive, complexly administered therapies prove successful. Health services should gather accurate population-based data on a regional basis to inform service planning.

scholarly journals The epidemiology of multiple sclerosis in the entre Douro e Vouga region of northern Portugal: a multisource population-based study

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mariana Branco ◽  
Ivânia Alves ◽  
Ana Martins da Silva ◽  
Joaquim Pinheiro ◽  
Maria José Sá ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Primary Care Physicians ◽  
Western Europe ◽  
Disease Onset ◽  
Clinical Information ◽  
Reference Population ◽  
Population Based ◽  
Prevalence Studies ◽  
The North ◽  
Northern Portugal

Abstract Background The prevalence of Multiple Sclerosis (MS) has been increasing worldwide and the north–south gradient of prevalence may be disappearing in the Northern hemisphere. The few previous prevalence studies performed in Portugal have reported a lower prevalence than the average for Western Europe. The aim of this study is to estimate the prevalence of MS in the Entre Douro e Vouga region, in Northern Portugal. Methods Multiple overlapping sources were used to ascertain all cases from the reference population: records from hospitals in the region and neighbouring regions; diagnostic databases of primary care physicians; and applications for disability benefits. The prevalence date was set at 1 January 2014. The reference population was 274,859 inhabitants. Patients’ neurologists were contacted to retrieve clinical information and confirm the diagnosis based. Results A total of 177 patients were identified after eliminating duplicates from different sources. The female to male ratio was 1.9 and the mean age at disease onset was 33.5 (standard deviation: 10.3). Clinically isolated syndrome accounted for 9.0% of patients, relapsing remitting for 58.8%, secondary progressive for 20.3% and primary progressive for 11.8%. The prevalence was estimated in 64.4 patients per 100,000 (95% confidence interval: 54.9;73.9). Conclusions In this study we report a higher point prevalence of MS than had been previously described in Portugal, but still far from the higher values recently reported in other Southern European countries.

An assessment of the spectrum of disability and handicap in multiple sclerosis: a population-based study

2001 ◽  
Vol 7 (2) ◽  
pp. 111-117 ◽  
Author(s):  
G V McDonnell ◽  
S A Hawkins
Keyword(s):  
Multiple Sclerosis ◽  
Social Issues ◽  
Population Based ◽  
Community Services ◽  
Service Planning ◽  
Standards Of Care ◽  
Full Time ◽  
North East ◽  
The North ◽  
Environmental Status

Objectives: To establish the spectrum of disability and handicap in a population based sample of multiple sclerosis (MS) patients. Background: Much knowledge exists about the epidemiology of MS but, despite its importance for health and social service planning, there remains relatively little data on the extent and nature of disability and handicap in this population. Methods: In a prevalence study in the north-east of N. Ireland, 288 patients (Poser criteria) were identified. Disability and handicap were assessed using the Incapacity Status Scale and Environmental Status Scale of the Minimal Record of Disability for MS. Results: Both scales were completed for 248 (86%) of patients. Just 71 (29%) are fully independent in all basic ADL's of bathing, dressing, grooming and feeding. Fifty-seven (23%) are unable to climb a flight of stairs and 102 (42%) acknowledge problems with sexual function. Sixty-one (25%) were working essentially full-time and 53 (21%) had no external financial support. Forty-five (18%) had changed residence due to MS, 12 (5%) were institutionalised and 86 (35%) required assistance for at least 1 h/day with ADL's. Eighty-one (33%) were unable to drive a car or use public transport. Forty-two (17%) access community services for at least 1 h/day on average. Conclusions: This data gives a clear indication of the considerable range of basic health and social issues in a typical MS community. Further work is required to establish patient perceptions of the adequacy of care provision and whether standards of care for MS patients are being met.

scholarly journals Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Esther Vicente ◽  
Ainara Ruiz de Sabando ◽  
Fermín García ◽  
Itziar Gastón ◽  
Eva Ardanaz ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Huntington Disease ◽  
Late Onset ◽  
Age At Onset ◽  
Population Based ◽  
Molecular Testing ◽  
Mortality Trends ◽  
Predictive Values ◽  
Diagnostic Codes ◽  
Incidence And Mortality

Abstract Background There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain). Methods HD cases were ascertained by the Rare Diseases Registry and the reference Medical Genetics Centre of Navarre. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (95% CI) were estimated. Overall and 9-year periods (1991–2017) HD prevalence, incidence and mortality rates were calculated, and trends were assessed by Joinpoint regression. Results Overall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. Primary care data was a more valuable resource for HD ascertainment than hospital discharge records, with 66% versus 50% sensitivity, respectively. It also had the highest number of “unique to source” cases. Thirty-five per cent of HD patients were identified by a single database and only 4% by all explored sources. Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. Incidence and mortality trends remained stable since 1995–96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. Late-onset HD patients (23.1%), mean age at onset (49.6 years), age at death (66.6 years) and duration of disease (16.7 years) were slightly higher than previously reported. Conclusion HD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population. Ascertainment bias may largely explain the worldwide heterogeneity in results of HD epidemiological estimates. Population-based rare diseases registries are valuable instruments for epidemiological studies on low prevalence genetic diseases, like HD, as long as they include validated data from multiple HIS and genetic/family information.

scholarly journals A Bayesian approach to estimating the population prevalence of mood and anxiety disorders using multiple measures

2021 ◽  
Vol 30 ◽  
Author(s):  
Jordan Edwards ◽  
A. Demetri Pananos ◽  
Amardeep Thind ◽  
Saverio Stranges ◽  
Maria Chiu ◽  
...  
Keyword(s):  
Monte Carlo ◽  
Anxiety Disorders ◽  
Administrative Data ◽  
Population Based ◽  
Accurate Estimate ◽  
Service Planning ◽  
Prevalence Estimate ◽  
Population Prevalence ◽  
Mood And Anxiety Disorders ◽  
Prevalence Estimates

Abstract Aims There is currently no universally accepted measure for population-based surveillance of mood and anxiety disorders. As such, the use of multiple linked measures could provide a more accurate estimate of population prevalence. Our primary objective was to apply Bayesian methods to two commonly employed population measures of mood and anxiety disorders to make inferences regarding the population prevalence and measurement properties of a combined measure. Methods We used data from the 2012 Canadian Community Health Survey – Mental Health linked to health administrative databases in Ontario, Canada. Structured interview diagnoses were obtained from the survey, and health administrative diagnoses were identified using a standardised algorithm. These two prevalence estimates, in addition to data on the concordance between these measures and prior estimates of their psychometric properties, were used to inform our combined estimate. The marginal posterior densities of all parameters were estimated using Hamiltonian Monte Carlo (HMC), a Markov Chain Monte Carlo technique. Summaries of posterior distributions, including the means and 95% equally tailed posterior credible intervals, were used for interpretation of the results. Results The combined prevalence mean was 8.6%, with a credible interval of 6.8–10.6%. This combined estimate sits between Bayesian-derived prevalence estimates from administrative data-derived diagnoses (mean = 7.4%) and the survey-derived diagnoses (mean = 13.9%). The results of our sensitivity analysis suggest that varying the specificity of the survey-derived measure has an appreciable impact on the combined posterior prevalence estimate. Our combined posterior prevalence estimate remained stable when varying other prior information. We detected no problematic HMC behaviour, and our posterior predictive checks suggest that our model can reliably recreate our data. Conclusions Accurate population-based estimates of disease are the cornerstone of health service planning and resource allocation. As a greater number of linked population data sources become available, so too does the opportunity for researchers to fully capitalise on the data. The true population prevalence of mood and anxiety disorders may reside between estimates obtained from survey data and health administrative data. We have demonstrated how the use of Bayesian approaches may provide a more informed and accurate estimate of mood and anxiety disorders in the population. This work provides a blueprint for future population-based estimates of disease using linked health data.

scholarly journals Colonoscopy and Flexible Sigmoidoscopy Practice Patterns in Ontario: A Population-Based Study

2007 ◽  
Vol 21 (7) ◽  
pp. 431-434 ◽  
Author(s):  
Susan E Schultz ◽  
Chris Vinden ◽  
Linda Rabeneck
Keyword(s):  
Flexible Sigmoidoscopy ◽  
Practice Patterns ◽  
Age Groups ◽  
Population Based ◽  
Insurance Plan ◽  
Ontario Health Insurance Plan ◽  
Population Based Study ◽  
The North ◽  
General Surgeons ◽  
Statistics Canada

OBJECTIVE: To conduct a population-based study on the provision of large bowel endoscopic services in Ontario.METHODS: Data from the following databases were analyzed: the Ontario Health Insurance Plan, the Institute for Clinical Evaluative Sciences Physicians Database and Statistics Canada. The flexible sigmoidoscopy and colonoscopy rates per 10,000 persons (50 to 74 years of age) by region between April 1, 2001, and March 31, 2002, were calculated, as well as the numbers and types of physicians who performed each procedure.RESULTS: In 2001/2002, a total of 172,108 colonoscopies and 43,400 flexible sigmoidoscopies were performed in Ontario for all age groups. The colonoscopy rate was approximately five times that of flexible sigmoidoscopy; rates varied from 463.1 colonoscopies per 10,000 people in the north to 286.8 colonoscopies per 10,000 people in the east. Gastroenterologists in all regions tended to perform more procedures per physician, but because of the large number of general surgeons, the total number of procedures performed by each group was almost the same.CONCLUSION: Population-based rates of colonoscopies and flexible sigmoidoscopies are low in Ontario, as are the procedure volumes of approximately one-quarter of physicians.

scholarly journals Care consumption of people with multiple sclerosis: A multichannel sequence analysis in a population-based setting in British Columbia, Canada

2021 ◽  
pp. 135245852110167
Author(s):  
Jonathan Roux ◽  
Elaine Kingwell ◽  
Feng Zhu ◽  
Helen Tremlett ◽  
Emmanuelle Leray ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
British Columbia ◽  
Sequence Analysis ◽  
Multidisciplinary Care ◽  
Median Number ◽  
Population Based ◽  
Service Planning ◽  
Physician Visits ◽  
Comorbidity Burden ◽  
Incident Cohort

Background: Persons with multiple sclerosis (PwMS) typically require complex multidisciplinary care, which is rarely formally assessed. Objectives: We applied multichannel sequence analysis (MCSA) to identify care consumption patterns by PwMS in British Columbia, Canada. Methods: We created two cohorts, comprising incident and prevalent MS cases, using linked clinical and administrative data. We applied MCSA to quantify and compare the care pathways of PwMS, based on all-cause hospitalizations and physician visits (divided into five specialities). Care consumption clusters were characterized using demographic and clinical features. Results: From 1048 incident and 3180 prevalent PwMS, the MCSA identified 12 and 6 distinct care consumption clusters over a median follow-up of 9.6 and 13.0 years, respectively. Large disparities between clusters were observed; the median number of annual consultations ranged from 5.6 to 21.3 for general practitioners, 1.2 to 4.6 for neurologists and 0 to 5.3 for psychiatrists in the incident cohort. Characteristics at MS symptom onset associated with the highest care consumption included high comorbidity burden and older age. There were similar disparities and associations for prevalent PwMS. Conclusion: The distinct patterns of care consumption, which were reminiscent of the heterogeneity of MS itself, may facilitate health service planning and evaluation, and provide a novel outcome measure in health research.

G01 Molecular testing for huntington disease and the risk of disclosure of unsolicited pre-symptomatic status: a recurring theme

2021 ◽  
Author(s):  
Elaine Cristina Miglorini ◽  
Karina Carvalho Donis ◽  
Raphael Castilhos ◽  
Maria Luiza Saraiva-Pereira ◽  
Laura Bannach Jardim
Keyword(s):  
Huntington Disease ◽  
Molecular Testing

scholarly journals Chronic Myeloid Leukemia in India

2017 ◽  
Vol 3 (1) ◽  
pp. 64-71 ◽  
Author(s):  
Prasanth Ganesan ◽  
Lalit Kumar
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Population Based ◽  
Outcome Data ◽  
Published Data ◽  
Molecular Monitoring ◽  
Quality Of Data ◽  
Assistance Programs ◽  
First Line Therapy ◽  
Line Therapy

Background In the last decade, the use of imatinib has brought a paradigm shift in the management of chronic myeloid leukemia (CML). In India, imatinib has been available for more than a decade and has been made accessible to all segments of the population because of patient assistance programs and cheaper generic versions. Despite improvements in survival, there are unique challenges in the Indian context. Methods We reviewed published data pertaining to CML in India for the period of 1990 to 2016, using PubMed advanced search with the terms chronic myeloid leukemia and India, and included studies that reported on epidemiology, monitoring for therapy, treatment outcomes, and resistance. Additionally, the references in retrieved articles were also reviewed. Results Thirty-seven studies were identified. The incidence of CML may be slightly lower in India than in the West, but there was only a single article reporting population-based data. Indian patients presented with more advanced disease. Most centers have access to imatinib as first-line therapy, but there is limited availability of molecular monitoring and second-line therapy. Most of the outcome data were retrospective but seemed comparable with that reported in Western centers. Drug adherence was impaired in at least one third of patients and contributed to poor survival. Conclusion Focused prospective studies and cooperative studies might improve the quality of data available. Future studies should focus on adherence, its effects on outcomes, and methods to address this problem.

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