智力残疾或全球发育迟缓儿童的遗传评估:临床报告
Lance H Rodan1,2, Joan Stoler1, Emily Chen3
1Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Pediatrics
|June 22, 2025
概括
儿童神经发育障碍的早期遗传诊断有助于预后和管理. 本指南有助于儿科医生根据症状选择适当的基因检测,或使用对发育迟缓/智力障碍的无假设方法.
科学领域:
- 儿科遗传学 儿科遗传学
- 神经发育障碍 神经发育障碍
- 临床诊断 临床诊断 临床诊断
背景情况:
- 遗传神经发育障碍在儿童中很普遍,需要早期诊断以改善结果.
- 及时诊断有助于预后,并发症监测,复发风险评估和有针对性的管理策略.
研究的目的:
- 为一般儿科医生提供发育迟缓/智力障碍遗传评估的实用方法.
- 引导基因测试的选择,尽可能优先考虑表型导向策略.
主要方法:
- 对临床特征的审查,以指导表型定向遗传测试.
- 在表型不明确的情况下,建议采用不可知论 (无假设) 基因测试方法.
- 考虑诊断产量,测试复杂性和对不可知测试的管理影响.
主要成果:
- 当临床特征存在时,优先进行表型引导的基因测试.
- 当特定的诊断不能通过表型确定时,建议采用不可知论方法.
- 指导方针考虑了不可知遗传测试策略的实际因素.
结论:
- 对于儿科发育迟缓/智力障碍来说,对遗传评估的系统方法至关重要.
- 表型导向和不可知测试策略提供了有价值的诊断途径.
- 本指南补充但不取代亚专家评估.
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