J37 Prevalence Of Huntington Disease In Navarra (spain). Sensitivity And Positive Predictive Value Of Different Sources Of Asecertaiment

Vicente, Esther; García-Amigot, Fermín; Gastón, M I; Nuin-Villanueva, MA; Hernández, Berta; Ardanaz, Eva; Ramos-Arroyo, MA

doi:10.1136/jnnp-2014-309032.220

Cited by 3 publications

(4 citation statements)

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“…In the absence of other time-series studies on HD mortality in Spain, comparison with the scientific literature on prevalence studies conducted in specific locations is required. Some examples included the city of Cadiz in 1970 (1.4 cases per 100,000 inhabitants), the province of Salamanca in 1984 (8.4 cases per 100,000), the Valencian region in the period 1987-1992 (5.4 cases per 100,000), and more recently, Navarre (5 cases per 100,000) [19][20][21][22] . When chronologically arranged, these studies do not indicate a rising trend, and the latest data to be reported are close to the reported Caucasian average [9] .…”

Section: Discussionmentioning

confidence: 99%

“…Since the underlying cause of death was used to identify HD cases in this study, the rates obtained could thus be lower than expected. Lastly, positive predictive value was assessed for HD on the basis of medical records and primary-care databases, but the mortality database could not be validated for HD [12,22] . Even so, the strength of this study is supported by the nationwide, populationbased death registry and a constant (over time) and standardized, geographically homogeneous (in all regions) methodology.…”

Section: Discussionmentioning

confidence: 99%

“…A temporal and spatial analysis of HD mortality was undertaken in Austria, and a regional analysis of prevalence was carried out in Finland [16,17] . In Spain, our research group conducted a study on HD mortality trends across the period 1981-2004, and additional studies on the prevalence of the disease have also been published, but no spatial analysis has been reported to date [18][19][20][21][22] .…”

Section: Introductionmentioning

confidence: 99%

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Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

Sánchez-Díaz

Arias-Merino²,

Villaverde-Hueso³

et al. 2016

Neuroepidemiology

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Background: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. Methods: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. Results: There were 1,556 HD-related deaths across the study period. An increasing trend in age-adjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in specific areas and in the southwest of Spain with a significantly higher HD mortality risk. Conclusion: HD mortality rising trends in Spain might be attributable to improvements in diagnosis leading to a rise in prevalence. Geographical variability in HD mortality could be related to regional differences in disease prevalence, health-care disparities, or other factors which call for in-depth assessment in future studies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

Sánchez-Díaz

Arias-Merino²,

Villaverde-Hueso³

et al. 2016

Neuroepidemiology

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“…In addition to RERNA, Navarre counts with a clinical/genetic HD reference centre that provides services for HD patients and their families and collaborates in multicentre, multinational HD research studies. Our group has previously estimated the incidence and prevalence of HD in Navarre [ 13 , 14 ]. In the present study, we aim to analyse the epidemiological trends of HD over a 27-year period in our community, and to examine the validity of different ascertainment sources, alone and in combination, used in population-based rare diseases registries (RDR).…”

Section: Introductionmentioning

confidence: 99%

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

Vicente

Sabando

García

et al. 2021

Orphanet J Rare Dis

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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.

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The global prevalence of Huntington's disease: a systematic review and discussion

Baig

Strong

Quarrell

2016

Neurodegenerative Disease Management

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PRACTICE POINTS Calculating something as simple as the prevalence H HD is problematic and contentious. Multiple sources are available to ascertain HD cases in a given population. Populations that employed diagnostic testing of HD have increased their ascertained prevalence measures over the last two decades. The estimated prevalence of HD in North America, North Western Europe and Australia ranges from 5.96 to 13.7 cases per 100 000 population. The ascertained prevalence of HD in Asia is much lower than Western populations. Using multiple sources for ascertainment of HD cases, although time-consuming, is more likely to determine the true prevalence of the disease in a given population.2 ABSTRACT The ascertained prevalence of H HD) increased significantly following the provision of diagnostic testing. A systematic review was conducted to estimate the prevalence of HD in the post-diagnostic testing era. 22 studies with original data pertaining to the prevalence of HD (1993HD ( -2015 were included and analysed. A global meta-analysis was not performed due to heterogeneity in study methods and geographical variation. The prevalence of HD is significantly lower in Asian populations compared to Western Europe, NorthAmerica and Australia. The global variation in HD prevalence is partly explained by the average CAG repeat lengths and frequency of different HTT gene haplotypes in the general population. Understanding the prevalence of HD has significant implications for healthcare resource planning.

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J37 Prevalence Of Huntington Disease In Navarra (spain). Sensitivity And Positive Predictive Value Of Different Sources Of Asecertaiment

Cited by 3 publications

References 0 publications

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

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

The global prevalence of Huntington's disease: a systematic review and discussion

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