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关于迟发性遗传性疾病预测性检测的理论心理学视角。

A theoretical psychological perspective on predictive testing for late onset hereditary diseases.

作者信息

Mularczyk E, Decruyenaere M, Denayer L, Evers-Kiebooms G

机构信息

Psychosocial Genetics, Center for Human Genetics, K.U. Leuven, Belgium.

出版信息

Genet Couns. 2007;18(4):367-78.

Abstract

Because of the burden of serious late onset hereditary diseases, psychological counselling is commonly included in the predictive testing procedure. We discuss the components of psychological counselling in the context of neurodegenerative disorders such as Huntington's disease, some hereditary cancers and some hereditary heart diseases. Psychological counselling should be tailored to the specific characteristics of the disease: penetrance and expression of the mutation, variability of the age at onset and efficacy of prevention and treatment, if available. Finally theories that have already been used for the psychological framing of counselling in the context of predictive testing or to formulate research hypotheses (e.g. Transactional Model of Stress and Coping, Common Sense Model of Self-regulation) are discussed.

摘要

由于严重迟发性遗传病的负担,心理咨询通常包含在预测性检测程序中。我们在神经退行性疾病(如亨廷顿舞蹈症)、一些遗传性癌症和一些遗传性心脏病的背景下讨论心理咨询的组成部分。心理咨询应根据疾病的具体特征进行调整:突变的外显率和表现、发病年龄的变异性以及预防和治疗的效果(如果有的话)。最后,讨论了已经用于预测性检测背景下心理咨询的心理框架构建或形成研究假设的理论(如压力与应对的交易模型、自我调节的常识模型)。

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