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Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk.

Identifieur interne : 000515 ( PubMed/Checkpoint ); précédent : 000514; suivant : 000516

Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk.

Auteurs : Emily R. Fisher [Canada] ; Michael R. Hayden

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24151181

Descripteurs français

Wicri :
- geographic : Canada.

English descriptors

KwdEn :
- Adult, Age of Onset, British Columbia (epidemiology), Canada (epidemiology), Female, Humans, Huntington Disease (epidemiology), Huntington Disease (genetics), Male, Middle Aged, Prevalence, Risk, Young Adult.
MESH :
- geographic , epidemiology : British Columbia, Canada.
- epidemiology : Huntington Disease.
- genetics : Huntington Disease.
- Adult, Age of Onset, Female, Humans, Male, Middle Aged, Prevalence, Risk, Young Adult.

Abstract

There is uncertainty surrounding the accuracy of prevalence estimates for Huntington's disease (HD). The aims of this study were to provide a best estimate of the prevalence and population at risk for HD in the province of British Columbia (BC), Canada, in 2012. HD patients with a clinical and/or genetic diagnosis of HD and individuals at risk for HD were ascertained from multiple sources. Clinical and genetic data were obtained from all available medical, social service, and genetic testing records. Six hundred and thirty-one HD patients and 3,763 individuals at 25% or 50% risk for HD were identified. Prevalence of HD was estimated at 13.7 per 100,000 (95% confidence interval [CI]: 12.6-14.8 per 100,000) in the general population, and 17.2 per 100,000 (95% CI: 15.8-18.6 per 100,000) in the Caucasian population. The population at 25% to 50% risk was estimated at 81.6 per 100,000 (95% CI: 79.0-84.2 per 100,000) individuals. These figures suggest there may be up to 4,700 individuals affected with HD and 14,000 at 50% risk for HD in Canada as well as up to 43,000 individuals affected with HD and 123,000 at 50% risk for HD in the United States. This is the first direct assessment of HD epidemiology in Canada in over three decades. These findings suggest that underascertainment may have led to previous underestimates of prevalence, namely, in Caucasian populations, and will aid in the planning of appropriate resource allocation and service delivery for the HD community.

DOI: 10.1002/mds.25717
PubMed: 24151181

Affiliations:

Canada

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pubmed:24151181

Le document en format XML

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<author><name sortKey="Fisher, Emily R" sort="Fisher, Emily R" uniqKey="Fisher E" first="Emily R" last="Fisher">Emily R. Fisher</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
<wicri:noRegion>British Columbia</wicri:noRegion>
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<author><name sortKey="Hayden, Michael R" sort="Hayden, Michael R" uniqKey="Hayden M" first="Michael R" last="Hayden">Michael R. Hayden</name>
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<author><name sortKey="Fisher, Emily R" sort="Fisher, Emily R" uniqKey="Fisher E" first="Emily R" last="Fisher">Emily R. Fisher</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation>
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<term>Female</term>
<term>Humans</term>
<term>Huntington Disease (epidemiology)</term>
<term>Huntington Disease (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prevalence</term>
<term>Risk</term>
<term>Young Adult</term>
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<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>British Columbia</term>
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<front><div type="abstract" xml:lang="en">There is uncertainty surrounding the accuracy of prevalence estimates for Huntington's disease (HD). The aims of this study were to provide a best estimate of the prevalence and population at risk for HD in the province of British Columbia (BC), Canada, in 2012. HD patients with a clinical and/or genetic diagnosis of HD and individuals at risk for HD were ascertained from multiple sources. Clinical and genetic data were obtained from all available medical, social service, and genetic testing records. Six hundred and thirty-one HD patients and 3,763 individuals at 25% or 50% risk for HD were identified. Prevalence of HD was estimated at 13.7 per 100,000 (95% confidence interval [CI]: 12.6-14.8 per 100,000) in the general population, and 17.2 per 100,000 (95% CI: 15.8-18.6 per 100,000) in the Caucasian population. The population at 25% to 50% risk was estimated at 81.6 per 100,000 (95% CI: 79.0-84.2 per 100,000) individuals. These figures suggest there may be up to 4,700 individuals affected with HD and 14,000 at 50% risk for HD in Canada as well as up to 43,000 individuals affected with HD and 123,000 at 50% risk for HD in the United States. This is the first direct assessment of HD epidemiology in Canada in over three decades. These findings suggest that underascertainment may have led to previous underestimates of prevalence, namely, in Caucasian populations, and will aid in the planning of appropriate resource allocation and service delivery for the HD community.</div>
</front>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk.</ArticleTitle>
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<Abstract><AbstractText>There is uncertainty surrounding the accuracy of prevalence estimates for Huntington's disease (HD). The aims of this study were to provide a best estimate of the prevalence and population at risk for HD in the province of British Columbia (BC), Canada, in 2012. HD patients with a clinical and/or genetic diagnosis of HD and individuals at risk for HD were ascertained from multiple sources. Clinical and genetic data were obtained from all available medical, social service, and genetic testing records. Six hundred and thirty-one HD patients and 3,763 individuals at 25% or 50% risk for HD were identified. Prevalence of HD was estimated at 13.7 per 100,000 (95% confidence interval [CI]: 12.6-14.8 per 100,000) in the general population, and 17.2 per 100,000 (95% CI: 15.8-18.6 per 100,000) in the Caucasian population. The population at 25% to 50% risk was estimated at 81.6 per 100,000 (95% CI: 79.0-84.2 per 100,000) individuals. These figures suggest there may be up to 4,700 individuals affected with HD and 14,000 at 50% risk for HD in Canada as well as up to 43,000 individuals affected with HD and 123,000 at 50% risk for HD in the United States. This is the first direct assessment of HD epidemiology in Canada in over three decades. These findings suggest that underascertainment may have led to previous underestimates of prevalence, namely, in Caucasian populations, and will aid in the planning of appropriate resource allocation and service delivery for the HD community.</AbstractText>
<CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Fisher</LastName>
<ForeName>Emily R</ForeName>
<Initials>ER</Initials>
<AffiliationInfo><Affiliation>Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Hayden</LastName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012306">Risk</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Huntington disease</Keyword>
<Keyword MajorTopicYN="N">ascertainment</Keyword>
<Keyword MajorTopicYN="N">epidemiology</Keyword>
<Keyword MajorTopicYN="N">population at risk</Keyword>
<Keyword MajorTopicYN="N">prevalence</Keyword>
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<Day>22</Day>
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<PubMedPubDate PubStatus="revised"><Year>2013</Year>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk.

Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki