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Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge

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dc.contributor.authorLeite, Ângela
dc.contributor.authorLeite, Fernanda
dc.contributor.authorDinis, Maria Alzira Pimenta
dc.date.accessioned2019-09-16T08:40:12Z
dc.date.available2019-09-16T08:40:12Z
dc.date.issued2017
dc.descriptionhttp://sherpa.ac.uk/romeo/issn/1662-4246/pt_PT
dc.description.abstractBACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?." RESULTS: From 10 categories of answers, references to the disease, quantitative answers, references to the family, and metaphors stood out. References to the disease, references to the family, and metaphors were mentioned more often by subjects at risk for LOND than by subjects at risk for HH (control group). CONCLUSION: The disease itself and its meaning as well as sick relatives play a key role in the objective knowledge about LOND. Thus, genetic counseling protocols of subjects at risk for LOND should include questions concerning family knowledge and disease experience.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAPA: Leite, Â., Leite, F., & Dinis, M. A. P. (2017). Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge. Public Health Genomics, 20(3), 158-165. doi:10.1159/000479292pt_PT
dc.identifier.doi10.1159/000479292pt_PT
dc.identifier.issn1662-8063
dc.identifier.urihttp://hdl.handle.net/10284/7903
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherKarger Publisherspt_PT
dc.relation.publisherversionhttps://www.karger.com/Article/Abstract/479292pt_PT
dc.subjectAdaptation, Psychologicalpt_PT
dc.subjectAdolescentpt_PT
dc.subjectAdultpt_PT
dc.subjectAgedpt_PT
dc.subjectAmyloid Neuropathies, Familialpt_PT
dc.subjectCase-Control Studiespt_PT
dc.subjectFamily Healthpt_PT
dc.subjectFemalept_PT
dc.subjectGenetic Counselingpt_PT
dc.subjectHumanspt_PT
dc.subjectLate Onset Disorderspt_PT
dc.subjectMachado-Joseph Diseasept_PT
dc.subjectMalept_PT
dc.subjectMetaphorpt_PT
dc.subjectMiddle Agedpt_PT
dc.subjectRisk Factorspt_PT
dc.subjectStress, Psychologicalpt_PT
dc.subjectSurveys and Questionnairespt_PT
dc.subjectYoung Adultpt_PT
dc.subjectHealth Knowledge, Attitudes, Practicept_PT
dc.titleSubjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledgept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage165pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage158pt_PT
oaire.citation.titlePublic Health Genomicspt_PT
oaire.citation.volume20pt_PT
person.familyNameDinis
person.givenNameMaria Alzira Pimenta
person.identifier493603
person.identifier.ciencia-id4710-147D-FDAF
person.identifier.orcid0000-0002-2198-6740
person.identifier.ridF-3309-2011
person.identifier.scopus-author-id55539804000
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1e85592a-e8e2-4aea-bd8e-1007c94388c0
relation.isAuthorOfPublication.latestForDiscovery1e85592a-e8e2-4aea-bd8e-1007c94388c0

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