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智力残疾的遗传疾病:拓展我们对表型和家庭结局的概念

Genetic disorders of intellectual disability: expanding our concepts of phenotypes and of family outcomes.

作者信息

Hodapp Robert M, Dykens Elisabeth M

机构信息

Vanderbilt Kennedy Center, Vanderbilt University, Nashville, TN, USA.

出版信息

J Genet Couns. 2012 Dec;21(6):761-9. doi: 10.1007/s10897-012-9536-4. Epub 2012 Aug 24.

Abstract

Over the past two decades, great strides have been made in our understandings of how genetic conditions influence behavior and how such so-called "behavioral phenotypes" influence parent and family stress and coping. In this paper, we call for expansions in two directions. First, as a field we need to go beyond behavior in our concepts of phenotypes, to also include the many medical, physical, and other "non-behavioral" phenotypes that influence children's everyday lives. Second, in examining how etiology-related phenotypes affect others, we need to go beyond the outcome of parental stress. In this regard, we focus on parental health, well-being, and various life choices, as well as how parenting children with specific genetic disorders can often lead to positive perceptions and outcomes. We end by discussing remaining research issues and how these two expansions relate to clinical practice.

摘要

在过去二十年里,我们对遗传状况如何影响行为以及这种所谓的“行为表型”如何影响父母及家庭的压力与应对方式的理解取得了巨大进展。在本文中,我们呼吁在两个方向上进行拓展。首先,作为一个领域,我们需要在表型概念上超越行为范畴,将影响儿童日常生活的众多医学、身体及其他“非行为”表型也纳入其中。其次,在研究病因相关表型如何影响他人时,我们需要超越父母压力这一结果。在这方面,我们关注父母的健康、幸福及各种生活选择,以及养育患有特定遗传疾病的孩子如何常常能带来积极的认知和结果。最后,我们讨论了剩余的研究问题以及这两个拓展与临床实践的关系。

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