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, 1 Maguire Rd, Lexington, MA, 02421, USA.
Journal of autism and developmental disorders
|March 5, 2026
概括
对自闭症谱系障碍 (ASD) 的基因测试在成年人中未得到充分使用. 只有41%的人接受了推的基因测试,诊断收益率为28%,这表明需要在ASD专科诊所进行更好的查.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 临床医学 临床医学
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,具有重要的遗传成分.
- 已经确定了许多与ASD相关的基因,但成年ASD人群中基因测试的程度仍然不清楚.
研究的目的:
- 确定ASD成年人推基因测试的利用率.
- 确定患有自闭症的成年人中具有正确遗传发现的比例.
主要方法:
- 对630名在2010年5月至2020年12月期间被诊断患有自闭症的成年人医疗记录的回顾性审查.
- 分析记录的基因检测历史记录,使用的方法和诊断结果.
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.
- 在那些被测试的人中,只有54%接受了推方法 (染色体阵列,测序面板或外基因组测序).
- 在28%的受试者中,发现了ASD的遗传原因.
结论:
- 在成年人中,对ASD的基因测试显著未得到充分利用.
- 很大一部分患有自闭症的成年人缺乏记录的基因测试,这表明他们错过了诊断和管理的机会.
- 审查遗传测试史和执行推测试可能有利于患有自闭症的成年人.
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