Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
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预测性基因检测对 VCP 包涵体肌病、佩吉特骨病和额颞叶痴呆的心理影响。
DOI：
10.1007/s10897-015-9819-7
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发表时间：
2015
影响因子：
1.9
通讯作者：
Kimonis,Virginia
中科院分区：
文献类型：
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作者：
Surampalli,Abhilasha;Khare,Manaswitha;Kubrussi,Georgette;Wencel,Marie;Tanaja,Jasmin;Donkervoort,Sandra;Osann,Kathryn;Simon,Mariella;Wallace,Douglas;Smith,Charles;MMcInerney-Leo,Aideen;Kimonis,Virginia
包涵体肌病与Paget‘s病和额颞部痴呆相关，又称多系统蛋白病，是一种常染色体显性遗传性、晚发型神经退行性疾病，由含有Valosin的蛋白(VCP)基因突变引起。这项研究旨在评估预测性基因测试的摄取和决策及其对心理健康的影响。参与基因发现研究的个体具有50%的遗传VCP疾病的先验风险，他们被发送了一封邀请函，提供遗传咨询和测试，并被邀请参与这项心理社会研究。共有102人收到邀请，33人(32.3%)参与了遗传咨询和检测，29人完成了基线问卷。20人完成了后续的测试后医院焦虑和抑郁量表问卷，包括18名测试呈阳性的13人。基线时的平均风险感知为50.1%。测试的原因包括对未来的规划、消除不确定性、告知儿童和满足好奇心。在基线时，四分之一的参与者有高度的焦虑。然而，测试后一年的分数是正常的。在这个小队列中，有三分之一的风险为50%的人选择了症状前测试。尽管四分之一的选择测试的人在基线时有很高的焦虑，但在随访中这一点并不明显。
Inclusion Body Myopathy associated with Paget's disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations inValosin containing protein(VCP) gene. This study aimed to assess uptake and decision making for predictive genetic testing and the impact on psychological well-being. Individuals who had participated in the gene discovery study with a 50 % a priori risk of inheriting VCP disease were sent a letter of invitation offering genetic counseling and testing and were also invited to participate in this psychosocial study. A total of 102 individuals received an invitation and 33 individuals participated in genetic counseling and testing (32.3 %) with 29 completing baseline questionnaires. Twenty completed the follow-up post-test Hospital Anxiety and Depression Scale questionnaire including 13 of the 18 who had tested positive. Mean risk perception at baseline was 50.1 %. Reasons for testing included planning for the future, relieving uncertainty, informing children and satisfying curiosity. At baseline, one quarter of the participants had high levels of anxiety. However, scores were normal one year following testing. In this small cohort, one third of individuals at 50 % risk chose pre-symptomatic testing. Although one quarter of those choosing testing had high anxiety at baseline, this was not evident at follow-up.