Literature DB >> 14960841

Living with Machado-Joseph disease in a small rural community of the Tagus valley.

C Paúl1, I Martín, M do Rosário Silva, M Silva, P Coutinho, J Sequeiros.   

Abstract

OBJECTIVES: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: The understanding of beliefs about the disease and its social representation is essential in planning effective genetic and psychological counseling. Copyright 2000 S. Karger AG, Basel

Entities:  

Year:  1999        PMID: 14960841     DOI: 10.1159/000016211

Source DB:  PubMed          Journal:  Community Genet        ISSN: 1422-2795


  6 in total

1.  Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease.

Authors:  Álvaro Mendes; Milena Paneque; Angus Clarke; Jorge Sequeiros
Journal:  Eur J Hum Genet       Date:  2018-12-20       Impact factor: 4.246

Review 2.  Machado-Joseph Disease: from first descriptions to new perspectives.

Authors:  Conceição Bettencourt; Manuela Lima
Journal:  Orphanet J Rare Dis       Date:  2011-06-02       Impact factor: 4.123

3.  What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

Authors:  Lídia Guimarães; Jorge Sequeiros; Heather Skirton; Milena Paneque
Journal:  J Genet Couns       Date:  2013-01-07       Impact factor: 2.537

4.  Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.

Authors:  Lavínia Schuler-Faccini; Claudio Maria Osorio; Flavia Romariz; Milena Paneque; Jorge Sequeiros; Laura Bannach Jardim
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

5.  Health-related stigma of noncommunicable neurological disease in rural adult populations: A scoping review.

Authors:  Valerie L Elliot; Debra Morgan; Julie Kosteniuk; Amanda Froehlich Chow; Melanie Bayly
Journal:  Health Soc Care Community       Date:  2018-12-12

6.  Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal.

Authors:  Daniela Couto; Liliana Sousa; Jorge Sequeiros; Manuela Lima; Álvaro Mendes
Journal:  J Community Genet       Date:  2022-07-18
  6 in total

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