Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations.
This study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington's disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemoc...
| Publicado en: | Journal of Genetic Counseling Vol. 25; no. 1; pp. 79 - 90 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Feb2016
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=112463111&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 112463111 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Feb2016 vid: 25 iid: 1 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 112463111 112463111 112463111 10.1007/s10897-015-9846-4 112463111 ppf: 79 ppct: 11 formats: fmt: @attributes: type: P tig: atl: Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. aug: au: Leite, Ângela Sequeiros, Jorge Dinis, Maria Paúl, Constança affil: Faculty of Science and Technology (FCT-UFP), University of Fernando Pessoa, Porto Portugal sug: subj: Hereditary Diseases Risk Factors Disease Attributes Male Female Human Amyloid Neuropathies, Familial Risk Factors Portugal Huntington's Disease Risk Factors Cerebellar Diseases Risk Factors Hemochromatosis Risk Factors Genetic Counseling Semi-Structured Interview Heterozygote Male Female ab: This study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington's disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemochromatosis (HH). The present study included a clinical group that consisted of 213 subjects at genetic risk (FAP, HD and MJD), comprising 174 subjects at-risk for FAP, 34 subjects at-risk for HD and only 5 subjects at-risk for MJD; and the control group consisting of 31 subjects at genetic risk for HH. All subjects at-risk were undergoing the process of genetic counseling to learn their genetic status (carrier or non-carrier). Subjects were assessed through a semi-structured single interview, in order to obtain sociodemographic data and the answer to an open-ended question relating to the illness representation issue: 'What does this illness mean to you?/ What is this disease to you?' It was in the subjects' metaphors that subjects best expressed what they felt regarding the disease and the situation of being at-risk for this disease. Family is their mirror and their source of learning and, therefore, it is inevitable that family is related to the meaning of the disease itself. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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