在新生儿查条件中神经发育并发症的景观分析:挑战和机遇
Zohreh Talebizadeh1, Valerie Hu2, Monir Shababi3
1American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA.
International journal of neonatal screening
|January 22, 2024
概括
新生儿查 (NBS) 识别了遗传条件,其中一些导致神经发育障碍 (NDD). 在NBS中对NDD并发症的数据收集标准化可以改善长期的健康结果和研究基础设施.
科学领域:
- 公共卫生 公共卫生
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
背景情况:
- 在美国,新生儿查 (NBS) 每年发现80多种遗传疾病.
- 许多NBS疾病是与潜在的神经发育障碍 (NDD) 相关的代谢天生的错误.
- 对NDD并发症的有效管理对于终身健康结果至关重要.
研究的目的:
- 分析NDD并发症与NBS条件的同时发生情况.
- 在NBS研究中编制NDD的标准化常用数据元素 (CDE).
- 确定早期发现新生儿NDD风险的挑战.
主要方法:
- MedGen的文本挖掘,以探索NDD-NBS条件的同时发生.
- 从现有的存储库和纵向儿科数据资源 (LPDR) 编译与NDD相关的CDE.
- 分析NDD风险识别在NBS中的知识缺口和挑战.
主要成果:
- 确定了NBS条件和NDD之间的同时发生模式.
- 为NBS编制了一份与NDD相关的CDE的综合清单.
- 突出了早期NDD风险评估对查婴儿的主要挑战和知识差距.
结论:
- 标准化的CDE可以简化NBS中NDD的长期后续研究.
- 需要改进的研究基础设施来推进NBS的公共卫生目标.
- 结果可以为更好的治疗指南和早期干预NDD在受影响的新生儿提供信息.
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