Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.
Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.
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DOI：
10.1007/s10897-010-9326-9
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发表时间：
2011-02
影响因子：
1.9
通讯作者：
Heise, Elizabeth Melvin
中科院分区：
文献类型：
--
作者：
McConkie-Rosell, Allyn;Del Giorno, Jacqueline;Heise, Elizabeth Melvin
关键词：
父母向孩子传达遗传性疾病信息的方式可能是孩子如何管理压力以及如何调整和适应该信息的重要决定因素。我们通过对 46 名女儿的父母进行结构化访谈来探索沟通模式，这些女儿了解了她们未成年时的遗传风险状况。探讨了关于脆性 X 综合征的三个不同层次的知识：1）告知其已在家庭中被诊断出来并且是一种遗传性疾病，2）告知女儿成为携带者的可能性，以及 3）如果进行了检测，则告知女儿其实际携带者身份。此外，还探讨了父母对女儿理解信息的看法以及讨论的频率。我们发现有关遗传风险的沟通是由父母发起的。确定了五种披露模式，其风格、内容和与所披露信息相关的沟通频率各不相同。弹性沟通的各个方面都存在于所有级别的披露中；然而，随着信息与女儿的个人相关性越来越高，例如披露“成为脆性 X 综合征携带者”的可能性，以及潜在结果的不确定性，对话中包含的弹性特征越来越少。呈现信息的内容和方式的不确定性可能会对父母在披露遗传风险信息时纳入弹性沟通要素的能力产生负面影响。
Parental approaches to communicating information about genetic disorders to their children may be an important determinant in how the children manage stress as well as their adjustment and adaptation to that information. We explored communication patterns through structured interviews with 46 parents of daughters who learned about their genetic risk status as minors. Three different levels of knowledge about fragile X syndrome were explored: 1) informing that it has been diagnosed in the family and is an inherited disorder, 2) informing about the possibility of a daughter being a carrier, and 3) if testing had been done, informing the daughter of her actual carrier status. Additionally, parental perceptions of their daughter’s understanding of the information were explored along with frequency of discussions. We found that communication about genetic risk was initiated by the parents. Five disclosure patterns were identified with variations in style, content, and frequency of communication related to the information that was being disclosed. Aspects of resilient communication were present for all levels of disclosure; however, as the information became more personally relevant for the daughter such as disclosure about the possibility of “being a carrier” for fragile X syndrome and there was uncertainty regarding potential outcomes, the conversations included fewer resilient characteristics. Uncertainty about what and how to present information may negatively affect a parent’s ability to include elements of resilient communication when disclosing genetic risk information.
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影响因子：
3.5
作者：
Tercyak, KP;Peshkin, BN;Lerman, C
通讯作者：
Lerman, C
影响因子：
1.9
作者：
Holt, Kathryn
通讯作者：
Holt, Kathryn
DOI：
10.1002/ajmg.c.30161
发表时间：
2008-02-15
影响因子：
3.1
作者：
Mcconkie-Rosell, Allyn;Spiridigliozzi, Gaol A.;Lachiewicz, Ave M.
通讯作者：
Lachiewicz, Ave M.
影响因子：
9.8
作者：
Nolin, SL;Brown, WT;Sherman, SL
通讯作者：
Sherman, SL
影响因子：
2
作者：
Wehbe, Ramsey M.;Spiridigliozzi, Gail A.;Heise, Elizabeth M.;Dawson, Deborah V.;McConkie-Rosell, Allyn
通讯作者：
McConkie-Rosell, Allyn