Paneque H M, Prieto A L, Reynaldo R R, Cruz M T, Santos F N, Almaguer M L, Velázquez P L, Heredero B L
Clinic for Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Community Genet. 2007;10(3):132-9. doi: 10.1159/000101754.
In this paper, we present a descriptive study of the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington disease.
Medical records were retrospectively reviewed from 100 individuals who requested presymptomatic diagnosis. They had been seen between February 2001 and May 2002 at the Ataxia Clinic in the province of Holguín and had completed the protocol. The participants had psychological evaluations before testing and 1 week after being informed of the result.
The average age of the participants in the presymptomatic testing for SCA2 was 39.3 years, 62% were female. The main reasons for taking the test were family planning and risk assessment in their children. Family participation in the process was high and there were several additional sources of social support. Before the test, the subjects did not present high levels of anxiety or depression. On informing the patients of the test results indicators for anxiety and depression significantly decreased, and there were no significant differences according to whether the test result had been positive or negative. Catastrophic events were rare during the first week after the test.
The results indicate a strong interest in presymptomatic diagnosis among individuals at risk for SCA2 in Holguín and a lack of significant psychological drawbacks up to 1 week after information of results.
本文对古巴2型脊髓小脑共济失调（SCA2）预测性基因检测项目实施的第一年进行了描述性研究，该项目是按照亨廷顿病的国际指南构建的。
对100名要求进行症状前诊断的个体的病历进行回顾性审查。他们于2001年2月至2002年5月期间在奥尔金省共济失调诊所就诊，并完成了相关方案。参与者在检测前和得知结果1周后进行了心理评估。
参与SCA2症状前检测的参与者平均年龄为39.3岁，62%为女性。进行检测的主要原因是计划生育和对其子女的风险评估。家庭对该过程的参与度很高，并且有几个额外的社会支持来源。检测前，受试者没有表现出高水平的焦虑或抑郁。在告知患者检测结果后，焦虑和抑郁指标显著下降，且无论检测结果为阳性或阴性均无显著差异。检测后的第一周内灾难性事件很少发生。
结果表明，奥尔金有患SCA2风险的个体对症状前诊断有浓厚兴趣，并且在得知结果后的1周内没有明显的心理缺陷。
