父母对新生儿查和脊柱肌肉缩的基因替代疗法的经验
Alayne P Meyer1,2, Anne M Connolly2,3,4, Kathryn Vannatta3,5
1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States.
Journal of neuromuscular diseases
|December 31, 2023
概括
脊柱肌缩 (SMA) 儿童的父母发现基因疗法是首选的治疗方法,但在新生儿查披露和初次诊所访问期间希望获得更多信息和支持. 建议改善咨询服务.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 神经学 神经学
背景情况:
- 脊椎肌肉缩 (SMA) 是一种影响婴儿和儿童的遗传性神经退行性疾病.
- 新生儿查和基因替代疗法 (Onasemnogene abeparvovec-xioi) 现在在美国可用于SMA诊断和治疗.
研究的目的:
- 评估父母对SMA新生儿查和基因替代疗法的经验.
- 探索SMA影响家庭的披露和咨询的最佳实践.
主要方法:
- 与32名家长进行了半结构面试.
- 在线调查由79名被诊断患有SMA并接受基因替代疗法治疗的儿童的父母完成.
主要成果:
- 基因替代疗法是首选的治疗方法,尽管人们对长期疗效和安全性表示担忧.
- 新生儿查披露情况各不相同,许多家长希望了解更多关于治疗选择的信息.
- 大多数家长赞成将SMA纳入新生儿查,尽管最初的焦虑和在诊所访问期间处理复杂信息的困难.
结论:
- 提供了改善新生儿查披露内容的建议.
- 建议在初次诊所访问期间对教育和咨询进行调整.
- 在诊断和治疗决定后,强调了父母心理健康的挑战.
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