Paúl C, Martín I, do Rosário Silva M, Silva M, Coutinho P, Sequeiros J
UnIGENe, IBMC, Department of Behavioral Sciences, University of Porto, Portugal.
Community Genet. 1999;2(4):190-5. doi: 10.1159/000016211.
In the context of our national program of predictive testing for Machado-Joseph disease (MJD), we have studied in a small rural community (1) discourses about the illness by individuals at risk and patients, and (2) how individuals at risk and patients plan to cope with the familial illness.
We used qualitative methods, beginning with a group interview of individuals at risk, and followed by in-depth interviews (about 1 hour long) of at-risk and affected individuals, in their homes. The latter interviews were subjected to a content analysis.
The coexistence of two contradictory discourses about MJD (a scientific and a folk one) was found consistently among all individuals. The main metaphor was that of the 'drunkard'. Knowledge about a precise diagnosis of their disease produced relief and hope, because it provided evidence that affected individuals were not drunkards.
The understanding of beliefs about the disease and its social representation is essential in planning effective genetic and psychological counseling.
在我国马查多 - 约瑟夫病（MJD）预测性检测项目的背景下，我们在一个小乡村社区开展了研究，（1）调查有患病风险个体和患者对该病的看法，以及（2）有患病风险个体和患者计划如何应对这种家族性疾病。
我们采用定性研究方法，首先对有患病风险个体进行小组访谈，随后在他们家中对有患病风险个体和患病个体进行深入访谈（约1小时）。后者的访谈进行了内容分析。
在所有个体中均一致发现了关于MJD的两种相互矛盾的说法（一种是科学的，一种是民间的）。主要隐喻是“酒鬼”。对疾病的确切诊断的了解带来了宽慰和希望，因为这证明患病个体并非酒鬼。
在规划有效的遗传和心理咨询时，了解对疾病的认知及其社会表征至关重要。
