Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba |
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Authors: | Milena Paneque Carolina Lemos Karell Escalona Lizandra Prieto Rubén Reynaldo Mercedes Velázquez Judith Quevedo Nieves Santos Luis Enrique Almaguer Luis Velázquez Alda Sousa Manuela Fleming Jorge Sequeiros |
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Institution: | (1) Clínica para Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), Holguín, Cuba;(2) Centro de Genética Preditiva e Preventiva (CGPP) and UnIGENe, IBMC, Porto, Portugal;(3) ICBAS, University of Porto, Porto, Portugal;(4) CGPP, IBMC, University of Porto, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal |
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Abstract: | Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the
psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments
were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the
test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased
significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but
decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for
these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now
the impact of other psychosocial variables and perform longer-term longitudinal studies. |
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Keywords: | predictive testing psychosocial genetics late-onset neurological disorders hereditary ataxia anxiety depression family functioning |
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