Leite Ângela, Dinis Maria Alzira P, Sequeiros Jorge, Paúl Constança
Faculty of Psychology (ULP), Lusophone University of Oporto, Rua Augusto Rosa n° 24, 4000-098, Porto, Portugal.
Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal.
J Genet Couns. 2016 Feb;25(1):79-89. doi: 10.1007/s10897-015-9846-4. Epub 2015 May 19.
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.
本研究调查了3种常染色体显性迟发性疾病（家族性淀粉样多神经病（FAP）TTR V30M、亨廷顿舞蹈症（HD）和马查多-约瑟夫病（MJD））高危受试者的疾病表征，并将其与血色素沉着症（HH）高危受试者的疾病表征进行比较。本研究纳入了一个临床组，该组由213名有遗传风险的受试者（FAP、HD和MJD）组成，其中包括174名FAP高危受试者、34名HD高危受试者和仅5名MJD高危受试者；以及一个对照组，该组由31名有HH遗传风险的受试者组成。所有高危受试者都在接受遗传咨询过程，以了解他们的遗传状态（携带者或非携带者）。通过半结构化的单次访谈对受试者进行评估，以便获取社会人口统计学数据以及对一个与疾病表征问题相关的开放式问题的回答：“这种疾病对你意味着什么？/ 对你来说这是什么疾病？” 在受试者的隐喻中，他们最能表达对疾病以及患这种疾病风险状况的感受。家庭是他们的镜子和学习来源，因此，家庭与疾病本身的意义相关是不可避免的。
