对发育回归儿童的诊断结果和调查成果
Kirsten Furley1,2, Matthew F Hunter1,3, Michael Fahey1,2,4
1Department of Paediatrics, Monash University, Melbourne, Australia.
American journal of medical genetics. Part A
|March 27, 2024
概括
儿童的发育回归往往没有被诊断出来. 外基组测序为识别遗传原因提供了高的诊断产量,即使是在以前未报告的条件下,也有助于临床决策.
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
- 医学诊断 医学诊断 医学诊断
背景情况:
- 儿童发育回归的理解很少,需要更好的表型-基因型表征.
- 在这些复杂的病例中,准确的诊断数据对于明智的临床决策至关重要.
研究的目的:
- 为了确定与儿童发育回归相关的条件.
- 评估这些疾病的各种调查的诊断产量.
主要方法:
- 在儿科遗传诊所 (2018-2021) 对99名发育衰退的儿童进行了回顾性图表审查.
- 分析来自不同研究的诊断产量,重点是外基因组测序 (ES).
主要成果:
- 32%的儿童接受了新的诊断,包括与发育回归相关的新遗传发现.
- 外体测序 (ES) 显示了最高的诊断收益率 (51.1%),特别是在智力障碍 (ID) 的儿童中.
- 在包括自闭症和ID在内的各种表现中,ES是有效的,识别了以前未报告的遗传原因.
结论:
- 发育回归为诊断潜在的遗传疾病提供了机会,即使是罕见的疾病.
- 外体序列测序是对发育回归儿童的高度有效的诊断工具,不管同时出现的ID或自闭症.
- 这项研究扩大了对具有发育回归的疾病的理解,并强调了先进遗传测试的有用性.
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