患有自闭症谱系障碍的成年人遗传检测史
Susanna B Mierau1,2,3, Robyn P Thom1,2, Caitlin T Ravichandran1,2,4
1Massachusetts General Hospital Lurie Center for Autism, Lexington, MA, USA.
medRxiv : the preprint server for health sciences
|September 4, 2024
概括
在患有自闭症谱系障碍 (ASD) 的成年人中,基因检测的使用不足. 只有54%的人接受了推的基因测试,28%的阳性检测率,突出了改善获取的必要性.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 临床医学 临床医学
背景情况:
- 自闭症谱系障碍 (ASD) 与许多遗传因素有关.
- 了解ASD成年人的基因测试的利用和结果至关重要.
研究的目的:
- 为了确定患有自闭症的成年人接受推基因检测的百分比.
- 评估这一群体中基因检测中阳性结果的比率.
主要方法:
- 对630名被诊断为ASD的成年人电子健康记录的回顾性审查.
- 纳入标准:在2010年5月1日至2020年12月15日期间,至少与合格的临床医生进行一次访问.
- 数据收集包括记录的基因测试,使用的方法和发现.
主要成果:
- 只有41%的患有自闭症的成年人有记录的基因检测.
- 54%的受试者接受了推的方法 (例如染色体阵列,测序面板).
- 在28%的成年人中发现了遗传原因,记录了结果.
结论:
- 遗传测试在患有自闭症的成年人中未得到充分利用.
- 很大一部分患有自闭症的成年人缺乏记录的基因测试,这表明利用率甚至更低.
- 审查遗传测试史和提供更新的测试可能有利于患有ASD的成年人.
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