自闭症谱系障碍儿童的病因评估
Steven M Lazar1, Thomas D Challman2, Scott M Myers2
1Section of Pediatric Neurology and Developmental Neuroscience, Meyer Center for Developmental Pediatrics & Autism, Baylor College of Medicine - Texas Children's Hospital, 6701 Fannin Street Suite 1250, Houston, TX 77030, USA.
基因检测对于诊断自闭症谱系障碍 (ASD) 是一种复杂的疾病至关重要. 建议将外体序列测定作为ASD的主要遗传评估,以确定因果变异.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 自闭症谱系障碍 (ASD) 呈现出显著的临床和病因异质性.
- 识别自闭症的潜在遗传原因对于理解其复杂性质至关重要.
研究的目的:
- 建议对所有被诊断为ASD的个人进行初级遗传病因学评估.
- 突出外体序列测序在识别ASD的因果遗传变异中的实用性.
主要方法:
- 审查目前针对ASD的遗传测试方法.
- 作为一线评估,建议使用副本数变异 (CNV) 覆盖的外基因组测序作为一线评估.
- 在特定的临床环境中考虑辅助神经成像和生物化学测试.
主要成果:
- 目前的临床遗传测试可以在20-25%的ASD患者中确定因果遗传变异.
- 外基组测序为ASD病因提供了全面的遗传分析.
- 其他诊断评估应以临床表现为指导.
结论:
- 遗传病因评估应该是ASD诊断的标准部分.
- 外基组测序被提议作为ASD的最佳初始遗传测试.
- 当临床特征表明时,有针对性的调查是有价值的.
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