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首页> 外文期刊>Journal of genetic counseling >Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome
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Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

机译：遗传风险信息对脆弱X综合征家庭中少女和年轻女性父母角色识别的影响

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摘要

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants' desire "to be a mother" and the importance they placed on this role. Enactment focused on the participants' views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants' knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.
机译：使用多组横截面设计，我们了解了53位年轻女性（14至24岁）中与父母角色显着和制定相关的自我概念，他们知道这些女性是携带者，非携带者或可能是脆弱者X综合症（FXS）。父母对角色的重视程度包括参与者对“当妈妈”的渴望以及他们对这一角色的重视。法规着重于参与者关于如何成为母亲的方式（生殖选择），为受FXS影响的孩子做父母以及伴侣关系的发展（婚姻）的观点。参与者完成了FXS青少年访谈和FX-Visual模拟量表。参与者对其遗传风险状况的了解似乎已经影响了父母角色的显着性和制定，并且其影响因携带者身份而异。对于许多人来说，遗传风险的知识似乎导致了重新评估，重新定义和重新参与，旨在成为父母。这个过程在那些有携带者的人中很明显，而在那些有风险的人中则不那么明显，在没有携带者的人中通常不会发生。这些发现为了解遗传风险信息对父母角色的认识的发展提供了宝贵的见解，并为有FXS家族史的青少年和年轻女性的遗传咨询提供了新的指导。

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