在患有遗传定义的ASD儿童中,自闭症谱系障碍 (ASD) 和现象的遗传诊断收益率
Karen Lob1,2, Danielle M Sawka1, John N Gaitanis3,4
1The Warren Alpert Medical School of Brown University, Providence, RI, USA.
Journal of autism and developmental disorders
|August 13, 2024
概括
患有遗传定义自闭症谱系障碍 (ASD) 的儿童的发病率更高,发病时间更早,特征更严重. 整体外体序列测序 (WES) 建议用于ASD的遗传诊断.
科学领域:
- 神经遗传学 神经遗传学
- 发育儿科 发育儿科
- 临床遗传学 临床遗传学
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.
- 鉴定自闭症的遗传原因对于了解疾病机制和改善临床管理至关重要.
- 是ASD中常见的并发症,其与遗传诊断的关系需要进一步调查.
研究的目的:
- 为了比较患有遗传定义和未定义自闭症谱系障碍 (ASD) 的儿童的现象.
- 评估ASD儿童不同遗传测试方式的诊断产量.
- 调查ASD遗传诊断与包括在内的特定临床特征之间的关联.
主要方法:
- 一个单一中心的回顾性研究包括523名患有ASD的患者,他们接受了基因检测.
- 根据更新的基因型-表型相关性,患者被归类为具有遗传定义的ASD.
- 整体外体序列 (WES) 和染色体微阵列 (CMA) 的诊断产量进行了比较.
主要成果:
- 总体而言,15.1%的患者接受了ASD诊断的遗传解释.
- 与CMA (8.3%) 相比,WES显示出更高的诊断产量 (23.0%).
- 患有遗传定义的自闭症的儿童表现出更高的小头症,低头症,形特征,发育迟缓/回归,以及的明显更高的患病率 (35.4%与16.4%相比).
- 基因定义的ASD与发病的早期年龄相关 (中位数为2.2岁而不是5.0岁) 并趋向于更高的耐药率.
结论:
- 整体外基因组测序 (WES) 应该被认为是患有自闭症儿童的第一级遗传测试方法.
- 在ASD早期的遗传诊断可以告知监测和伴随性疾病的管理,特别是.
- 遗传定义的自闭症与明显的表型特征和更高的病负担有关,这强调了遗传评估的重要性.
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