父母的态度和经验在追求基因测试他们的孩子的运动语言障碍
Christy Atkinson1,2, Yong Quan Lee1,2, Mariana L Lauretta2,3
1Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
European journal of human genetics : EJHG
|December 9, 2024
概括
由于潜在的好处,家长们进行了儿童语音失调 (CAS) 和失声症的基因测试. 尽管结果各不相同,但他们还是面临着复杂的情绪,并为孩子的罕见诊断寻求支持.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 语音语言病理学 语音语言病理学
背景情况:
- 发言动力障碍,如童年语音失调 (CAS) 和失联症,大约影响1000名儿童中的1名.
- 在接受基因检测的儿童中,遗传因素解释了大约30%的语言障碍.
- 了解父母对遗传检测的看法对于有效的遗传咨询至关重要.
研究的目的:
- 探索家长的态度,经验和遗传测试对运动语言障碍儿童的感知影响.
- 调查父母对遗传测试结果的动机和情绪反应,无论结果如何.
主要方法:
- 与20名父母进行半结构面试,这些父母的孩子被诊断为CAS或经过外体序列测序的脱节症.
- 采访数据的字面转录,共编码和反射主题分析.
- 分析了接受基因诊断的家长的经验 (8),以及收到无信息结果的家长的经验 (12).
主要成果:
- 父母受到基因诊断的个人,临床,社会和财务效益的高度激励.
- 父母对遗传测试结果产生了复杂的情绪反应.
- 一个遗传诊断促进了获得资金和临床护理的机会,但父母希望得到持续的支持.
- 没有信息的结果导致父母找到意义,并为孩子的持续诊断旅程使用应对策略.
结论:
- 基因测试对患有运动语言障碍的儿童具有显著的实用性,影响照顾和支持.
- 无论结果如何,父母对遗传测试的体验都在情感上很复杂.
- 持续的信息,临床和同行支持对于那些面临罕见遗传诊断和诊断旅程的家庭来说至关重要.
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