Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese
Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese
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DOI：
10.1111/j.1468-1331.1997.tb00411.x
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发表时间：
1997-12-01
影响因子：
5.1
通讯作者：
Itoyama, Y
中科院分区：
文献类型：
--
作者：
Abe, K;Itoyama, Y
为评价脊髓小脑性共济失调（SCA）基因检测的心理后果，对脊髓小脑性共济失调1型和Machado-Joseph病（MJD）患者及其家属进行了状态与特质焦虑量表（SAI和TAI）和社会期望量表（SDS）的评定和分析。基因检测前后的结果与对照组进行了比较，对照组包括更严重的遗传性神经系统疾病，如亨廷顿病和家族性肌萎缩侧索硬化症。研究期间进行了遗传咨询。在62名参与者中，37名被诊断为SCA，25名为无症状家庭成员。SCA患者的基线SAI、TAI和SDS评分均高于无症状家族成员。基因检测并没有显著增加所有患者及其无症状家庭成员的得分，而在那些获得阴性结果且不是缺陷基因携带者的受试者中，SAI值大大降低。即使在疾病更严重的对照组中也获得了类似的结果，除了患者的SAI值降低之外。患者，他们的SCA无症状的家庭成员，疾病控制通常有一些担心的测试，但在同一时间，并不那么焦虑，如果补救或治疗可用。此外，这项研究中的大多数参与者表现出高度的接受程度，并且无论是否患有疾病或发现预测测试的结果，都没有对接受基因测试表示太多遗憾。这些结果表明，SCA基因异常阴性的无症状家庭成员的心理健康在基因检测后恢复，基因检测对患者的心理健康没有不利影响，甚至对阳性预测结果的患者也没有不利影响。
To evaluate the psychological consequences of genetic testing for spinocerebellar ataxia (SCA), state and trait anxiety inventories (SAI and TAI) and social desirability scale (SDS) were assessed and analyzed in patients and their family members diagnosed with spinocerebellar ataxias such as spinocerebellar ataxia type 1 and Machado-Joseph disease (MJD). The results obtained prior to and after the genetic testing were compared to a control group that included more severe hereditary neurological disorders such as Huntington's disease and familial amyotrophic lateral sclerosis. Genetic counseling was undertaken during the study. Of the 62 total participants, 37 were diagnosed with SCA, and 25 as asymptomatic family members. The SCA patients had higher baseline SAI, TAI and SDS scores than their asymptomatic family members. Genetic testing did not significantly increase the scores for all the patients and their asymptomatic family members, whereas the SAI value was greatly reduced in those subjects who received negative results and were not carriers of the defective gene. Similar results were obtained even in the control group with more severe diseases except for a reduction of SAI values in the patients. Patients, their SCA asymptomatic family members, and the disease control generally had some apprehension for the testing, but, at the same time, were not so anxious if remedial or curative therapy was available. Furthermore, most participants in this study showed a high degree of acceptance and did not express much regret in undergoing the genetic testing regardless of having the disease or finding out the results of the predictive testing. These results suggest that the psychological health of the asymptomatic family members with negative results for SCA gene abnormality recovered after genetic testing, and genetic testing was not disadvantageous for the psychological well-being of the patients and even for those with positive predictive results.