Long-term outcome of presymptomatic testing in Huntington disease
Long-term outcome of presymptomatic testing in Huntington disease
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DOI：
10.1038/ejhg.2008.146
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发表时间：
2009-02-01
影响因子：
5.2
通讯作者：
Durr, Alexandra
中科院分区：
文献类型：
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作者：
Gargiulo, Marcela;Lejeune, Severine;Durr, Alexandra
我们对亨廷顿病症状前检测的长期结果的研究有两个目的：比较突变携带者和非携带者的心理健康和社会适应，以及确定心理决定因素以改善对受测者的护理/支持。我们对351名接受症状前测试的人进行了横断面研究。那些有运动体征的人被排除在无症状携带者和非携带者的比较之外。采用五种自我报告量表和MINI （MINI International Neuropsychiatric Inventory）组成的结构化访谈来检测精神病理或社会适应问题。我们采访了119名受试者（53%），62名非携带者和57名携带者，平均延迟3.7年（范围：0.32至8.9）。抑郁在无症状携带者中很常见（58%）。有趣的是，自我报告的测试影响表明，27%的非携带者不能很好地应对一个有利的结果，而相当大比例的非携带者（24%）在随访期间感到沮丧。多变量分析显示，在HD突变携带者和非携带者进行基因检测后，只有以前的抑郁发作可预测抑郁症(P
Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the identification of psychological determinants to improve care/support of testees. We performed a cross-sectional study of 351 persons who underwent presymptomatic testing. Those who had motor signs were excluded from the comparison of asymptomatic carrier and non-carriers. A structured interview including five self-report scales and the MINI (Mini International Neuropsychiatric Inventory) was proposed to detect a psychopathology or problem with social adjustment.We interviewed 119 testees (53%), 62 non-carriers and 57 carriers after a mean delay of 3.7 years (range: 0.32 to 8.9) after their result. Depression was frequent in asymptomatic carriers (58%). Interestingly, the self reported impact of the test showed that 27% of non-carriers did not cope well with a favourable result, and a significant percentage of non-carriers (24%) were depressed during follow-up. Multivariate analysis showed that only a previous episode of depression was predictive of depression after genetic testing in both carriers and non-carriers of the HD mutation (P