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十年额颞叶痴呆症患者家庭遗传咨询:咨询需求寥寥,亲属对检测多有抵触。

A decade of genetic counseling in frontotemporal dementia affected families: few counseling requests and much familial opposition to testing.

作者信息

Riedijk S R, Niermeijer M F N, Dooijes D, Tibben A

机构信息

Department of Clinical Genetics, Erasmus Medical Centre, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands,

出版信息

J Genet Couns. 2009 Aug;18(4):350-6. doi: 10.1007/s10897-009-9222-3. Epub 2009 Apr 10.

Abstract

A decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second, FTD at-risk counselees reported substantial familial opposition to genetic testing, which is distinct from the attitude in Huntington Disease affected families. We hypothesize that the low acceptance for FTD genetic counseling is consequential to the familial opposition and explain this within the theoretical framework of separation-individuation. Furthermore, we hypothesize that separation-individuation problems do not similarly influence the acceptance of HD genetic counseling, due to the educative role of the well-organised patient organization for HD in the Netherlands. We offer counseling recommendations that serve to facilitate the individuation of the counselee with respect to the FTD genetic test.

摘要

对额颞叶痴呆(FTD)患者家庭进行十年遗传咨询产生了两项重要观察结果。第一,在荷兰伊拉斯姆斯医学中心临床遗传学系,FTD症状前检测的接受率较低。第二,FTD高危咨询对象报告称,家人强烈反对基因检测,这与亨廷顿舞蹈症患者家庭的态度不同。我们推测,FTD遗传咨询接受度低是家庭反对的结果,并在分离-个体化理论框架内对此进行解释。此外,我们推测,由于荷兰组织良好的亨廷顿舞蹈症患者组织发挥的教育作用,分离-个体化问题不会同样影响HD遗传咨询的接受度。我们提供了一些咨询建议,以促进咨询对象在FTD基因检测方面的个体化。

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