有遗传病的青少年的身份发展和适应:以质量为导向的混合方法研究,以制定优化临床遗传服务的策略
Tasha Wainstein1,2, Cyrus Boelman3, Connie Ens4
1Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada. tasha.wainstein@bcchr.ca.
Orphanet journal of rare diseases
|August 21, 2025
概括
有遗传病的青少年在身份发展和适应方面遇到不同的挑战. 基因咨询可以支持他们的心理健康和基因诊断的整合.
科学领域:
- 医学遗传学
- 青少年心理学
- 生物伦理学
背景情况:
- 青少年的遗传咨询需要与成年人不同的定制方法.
- 越来越多的残疾青少年和早期基因组测试需要最佳实践.
- 研究青少年对接受,理解和与遗传疾病相处的看法.
研究的目的:
- 探索10至19岁的青少年如何感知和处理他们的遗传诊断.
- 了解影响遗传疾病青少年身份发展和心理适应的因素.
- 为此群体提供最优化的护理模式.
主要方法:
- 质量导向的横截面混合方法研究.
- 青少年完成了心理适应量表 (PAS) 和疾病认同问卷 (IIQ).
- 进行半结构面试并使用代分析进行分析.
主要成果:
- 十八名患有多种遗传疾病的青少年 (平均年龄15.5岁) 参与了这项研究.
- 参与者表现出足够的心理适应 (平均PAS为3. 07) 和略高于不适应性疾病认同得分.
- 创建了残疾和遗传身份发展的概念模型,强调了内化过程,背景变化以及能力等外部因素.
结论:
- 这些发现为为患有遗传病的青少年开发优化护理模式提供了基础.
- 提高基因咨询的机会对于促进这一群体的身份发展至关重要.
- 改善基因咨询可以帮助青少年整合基因诊断并改善心理适应.
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