OBJECTIVE: The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program. METHODS: Scores for depression and anxiety were used as indicators of the subjects' emotional status immediately before the PT and 1 year after disclosure of the results. RESULTS: Global levels of participation in the Azorean PT Program for MJD were high (20.7%), particularly in Flores Island (35.8%). For the total sample, mean scores of depression and anxiety before and after the PT presented without clinical significance. No differences were found for depression and anxiety scores before and after the PT. Furthermore, when grouped by test results (carriers/non-carriers), there were no differences between pre- and post-test levels. CONCLUSIONS: Results indicate that the test result did not cause a decrease in the psychological well-being of the individuals tested. The high number of participants performing the PT in the small and isolated community of Flores Island, where MJD represents a source of stigma, was interpreted as an indication that in this particular population the PT offers the individuals at risk the possibility of liberating from a stigma, and, hence, from exclusion.
OBJECTIVE: The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program. METHODS: Scores for depression and anxiety were used as indicators of the subjects' emotional status immediately before the PT and 1 year after disclosure of the results. RESULTS: Global levels of participation in the Azorean PT Program for MJD were high (20.7%), particularly in Flores Island (35.8%). For the total sample, mean scores of depression and anxiety before and after the PT presented without clinical significance. No differences were found for depression and anxiety scores before and after the PT. Furthermore, when grouped by test results (carriers/non-carriers), there were no differences between pre- and post-test levels. CONCLUSIONS: Results indicate that the test result did not cause a decrease in the psychological well-being of the individuals tested. The high number of participants performing the PT in the small and isolated community of Flores Island, where MJD represents a source of stigma, was interpreted as an indication that in this particular population the PT offers the individuals at risk the possibility of liberating from a stigma, and, hence, from exclusion.
Authors: Caroline Santa Maria Rodrigues; Viviane Ziebell de Oliveira; Gabriela Camargo; Claudio Maria da Silva Osório; Raphael Machado de Castilhos; Maria Luiza Saraiva-Pereira; Lavínia Schuler-Faccini; Laura Bannach Jardim Journal: J Genet Couns Date: 2011-06-30 Impact factor: 2.537
Authors: Jackie M Poos; Esther van den Berg; Janne M Papma; Fleur C van der Tholen; Harro Seelaar; Laura Donker Kaat; J Anneke Kievit; Aad Tibben; John C van Swieten; Lize C Jiskoot Journal: Front Psychiatry Date: 2022-04-27 Impact factor: 5.435
Authors: Carlos Gonzalez; Elisabete Gomes; Nadiya Kazachkova; Conceição Bettencourt; Mafalda Raposo; Teresa Taylor Kay; Patrick MacLeod; João Vasconcelos; Manuela Lima Journal: Genet Test Mol Biomarkers Date: 2012-12
Authors: Jane S Paulsen; Martha Nance; Ji-In Kim; Noelle E Carlozzi; Peter K Panegyres; Cheryl Erwin; Anita Goh; Elizabeth McCusker; Janet K Williams Journal: Prog Neurobiol Date: 2013-09-11 Impact factor: 11.685