在阳性新生儿查 lysosomal储存障碍后,父母的心理社会结果
Courtney Berrios1, Randi Gadea2, Meghan Strenk2
1Genomic Medicine Center, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri, Kansas City, MO 64108, USA.
Molecular genetics and metabolism
|September 26, 2025
概括
新生儿查 lysosomal存储障碍 (LSDs) 可能会导致父母持久的焦虑和担忧,即使有错误的阳性结果. 提高查准确度和提供咨询可以减少这种负担.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 心理学 心理学 心理学
背景情况:
- 新生儿查 (NBS) 旨在早期检测遗传疾病.
- 溶酶体储存障碍 (LSD) 是一组罕见的遗传代谢疾病.
- 积极的NBS结果的心理社会影响,特别是对于LSDs,需要进一步调查.
研究的目的:
- 探索新生儿查 (NBS) 对四种溶酶体储存障碍 (LSD) 的积极结果的心理社会影响.
- 通过不同验证测试结果来检查这些影响.
- 了解父母的经验和情绪反应,以后NBS对LSDs.
主要方法:
- 一种混合方法的方法,结合了回顾性 (n=80) 和前性 (n=50) 纵向队列.
- 调查评估了家长的不确定性,焦虑,侵入性思想,以及对孩子的脆弱感.
- 深度采访探讨了NBS的经验和心理社会反应.
主要成果:
- 父母在确认测试期间经历了显著的不确定性和焦虑,随着更多信息的增加,这种不确定性和焦虑会减少.
- 携带者或伪缺陷结果的孩子的父母报告的焦虑和脆弱程度与真正或不确定的结果相似.
- 采访显示,不管孩子的最终诊断如何,一些家长仍然存在不确定性和担忧.
结论:
- 对LSD的积极NBS结果可能会导致家庭长期的心理社会痛苦,即使没有确定的诊断.
- 减少NBS的错误阳性率和提供增强的遗传咨询对于减轻家长负担至关重要.
- 需要进一步的研究来制定针对性支持策略,以帮助受NBS结果影响的家庭.
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