Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations

• Type: Article in International Scientific Journal
• Date: 2016

Authors

Leite, A (Author) Other; Dinis, MAP (Author) Other; Sequeiros, J (Author) Other; Constança Paúl (Author) ICBAS

Journal

Title: Journal of Genetic Counseling

Vol. 25

Pages: 79-89

ISSN: 1059-7700

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 11 Citations

Scopus - 11 Citations

Other information

Authenticus ID: P-00F-K07

DOI: 10.1007/s10897-015-9846-4

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 11