The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life
The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life
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DOI：
10.1007/s10897-017-0195-3
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发表时间：
2018-08-01
影响因子：
1.9
通讯作者：
Kievit, Anneke
中科院分区：
文献类型：
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作者：
Cohn-Hokke, Petra E.;van Swieten, John C.;Kievit, Anneke
遗传性神经退行性疾病预测性检测的后续研究主要集中在心理结果上。我们调查了突变携带者的社会和个人生活是否与非携带者和未经测试的高危个体存在负面差异。邀请在研究开始前2年以上接受亨廷顿病、额颞叶痴呆或阿尔茨海默病基因检测结果的无症状个体（ae 35岁）和风险为50%的未检测受试者完成问卷和具有额外或调整项目的额外问卷。在选定的283名受试者中，115名返回了积极的知情同意书（应答率39.6%）。其中，17名运营商，30名非运营商和27名未经测试的人（n = 74）符合标准，并完成了两份问卷。我们发现，携带者和非携带者或未经检测的高危人群在就业、经济状况、生活方式或焦虑和抑郁方面没有显著差异。携带者通常是单身和无子女的，尽管这些差异并不显著。这项研究的结果表明，对成人发病的神经退行性疾病的预测测试的结果不会对社会和个人生活产生很大的负面影响，尽管这些观察结果应谨慎解释，因为参与者人数少，应答率低。
Follow-up studies on predictive testing for hereditary neurodegenerative diseases mainly focussed on psychological outcomes. We investigated whether the social and personal life of mutation carriers differ negatively from non-carriers and untested at-risk individuals. Asymptomatic individuals (ae 35 years) who received a genetic test result for Huntington's disease, frontotemporal dementia or Alzheimer's disease more than 2 years before the onset of the study and untested subjects at 50% risk were invited to complete a questionnaire and an additional questionnaire with extra or adjusted items. Of the 283 selected individuals, 115 returned a positive informed consent (response rate 39.6%). Of these, 17 carriers, 30 non-carriers and 27 untested persons (n = 74) fulfilled the criteria and completed both questionnaires. We found no significant differences in employment, financial situation and lifestyle or anxiety and depression between carriers and non-carriers or untested individuals at risk. Carriers were more often single and childless, though these differences were not significant. The findings of this study suggest that the result of predictive testing on adult-onset neurodegenerative diseases does not have a large negative effect on social and personal life, although these observations should be interpreted with caution because of the small number of participants and low response rate.