title: Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations.
abstract: 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.
authors.affiliation: Faculty of Psychology (ULP), Lusophone University of Oporto, Rua Augusto Rosa n° 24, 4000-098, Porto, Portugal. angelamtleite@gmail.com.|Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. angelamtleite@gmail.com.
authors.forename: Ângela
authors.initials: Â
authors.lastname: Leite
authors.affiliation: Faculty of Science and Technology (FCT-UFP), University of Fernando Pessoa, Porto, Portugal.
authors.forename: Maria Alzira P
authors.initials: MA
authors.lastname: Dinis
authors.affiliation: Instituto de Ciências Biomédicas Salazar (ICBAS), Porto, Portugal.|Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal.|I3S-Instituto de Investigação e Inovação em Saúde, University Porto, Oporto, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.affiliation: Instituto de Ciências Biomédicas Salazar (ICBAS), Porto, Portugal.
authors.forename: Constança
authors.initials: C
authors.lastname: Paúl
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D010375:Pedigree; D011174:Portugal; D011228:Prealbumin; D012307:Risk Factors
chemical_list: D011228:Prealbumin
keywords: Familial Amyloid Polyneuropathy (FAP) TTR V30M; Genetic disease; Genetic risk; Huntington’s disease; Illness representations; Machado-Joseph disease; Subjects at-risk