Carrier testing in fragile X syndrome: When to tell and test
Carrier testing in fragile X syndrome: When to tell and test
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DOI：
10.1002/ajmg.10396
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发表时间：
2002-06-01
期刊：
影响因子：
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通讯作者：
Lachiewicz, AM
中科院分区：
文献类型：
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作者：
McConkie-Rosell, A;Spiridigliozzi, GA;Lachiewicz, AM
这项研究探讨了接受脆性X基因检测的女性在何时学习高危状态和进行携带者检测方面的年龄偏好。42名女性(20名携带者和22名非携带者)在携带者检测之前和得知结果后完成了结构化访谈。大多数人赞成他们自己和他们的孩子在18岁时学习高危状态和携带者状态。喜欢的年龄分为四个发育阶段：幼儿(0-9岁)、青春期(10-13岁)、青少年(14-17岁)和成年(18岁)。虽然在访谈之间或携带者和非携带者之间没有发现显著的年龄反应的平均变化，但与年龄类别相关的反应模式有差异。在时间2，0-9类别的回答数量似乎有所增加。此外，测试的平均年龄比在时间1告知的年龄要大，但在时间2不是。对于0-9岁的女性来说，最常见的原因是给孩子提供适应的时间。那些报告10-13岁的人认为青春期的开始以及孩子的理解、调整和应对能力是关键的决定因素。那些更喜欢青春期的人认为性行为的可能性和对未来的规划是重要的考虑因素。成年人的发展重点是严肃的人际关系。这项研究通过其独特的从不确定性向确定性转变的纵向视角，建立在先验知识的基础上，对遗传咨询具有启示意义，并表明儿童的发展阶段在决定何时告诉和测试方面非常重要。(C)2002年Wiley-Liss，Inc.
This study explored age preferences about when to learn at-risk status and have carrier testing in women who were undergoing testing for fragile X. Forty-two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing and after learning their result. The majority favored learning at-risk status and carrier status at < 18 years for themselves and their children. Preferred ages fell into four developmental categories: early childhood (0-9), preteen (10-13), teen (14-17), and adult ( 18). Although no significant mean changes in age responses were found between interviews or between carrier and noncarrier responses, a difference in the pattern of responses related to age categories was suggested. There appeared to be an increase in the number of responses in the 0-9 category at time 2. Also, the mean ages for testing were older than they were for telling at time 1, but not at time 2. For women indicating ages 0-9, the most frequent reason was to provide children with time to adjust. Those reporting ages 10-13 felt that the onset of puberty as well as a child's ability to understand, adjust, and cope were key determinants. Those preferring the teen years felt the possibility of sexual activity and planning for the future were important considerations. The developmental focus for adults was serious relationships. This study, through its unique longitudinal perspective of transition from uncertainty to certainty, builds on prior knowledge, has implications for genetic counseling, and suggests that the developmental stage of the child is important in determining when to tell and test. (C) 2002 Wiley-Liss, Inc.