Psychological Follow-up of Presymptomatic Genetic Testingfor Spinocerebellar Ataxia Type 2 (SCA2) in Cuba

ABSTRACT

Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five yearsago. We have now investigated the psychological impact of test results on 150 individuals at5O percent risk for SCA2. In a prospective study, psychological instruments were used to evaluatedepression, anxiety and family functioning (1) before testing and (2) one year after disclosureof the test result. One year after, anxiety and depression levels decreased both in carriersand non-carriers, but anxiety decreased significantly more in carriers. Pathological levelsof anxiety were seen mostly in members of dysfunctional families, but decreased more inthem than in other consultands. Presymptomatic testing thus seems to have been especiallybeneficial for these testees, possibly due to a greater gain from the psychosocial supportreceived. It would be pertinent to evaluate now the impact of other psychosocial variablesand perform longer-term longitudinal studies...(AU)