与遗传检测在自闭症谱系障碍中的不足利用相关的因素
Nicolas J Abreu1, Madeline Chiujdea1, Shanshan Liu2
1Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Pediatric neurology
|November 8, 2023
概括
自闭症遗传测试的低完成率与患者的年龄和保险有关. 早期提供者建议和遗传咨询可以改善自闭症谱系障碍 (ASD) 的测试吸收率.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 发育障碍 发育障碍 发展障碍
背景情况:
- 自闭症谱系障碍 (ASD) 诊断往往需要进行基因检测.
- 染色体微阵列 (CMA) 是ASD的一个关键遗传测试.
- 在ASD中影响CMA完成的因素尚未完全理解.
研究的目的:
- 确定与ASDCMA完成率低相关的患者和提供者因素.
- 了解被诊断患有自闭症的个体基因检测的障碍.
主要方法:
- 对新诊断ASD的儿童进行回顾性医疗记录审查.
- 研究期:2015年2月至2016年1月,在一个单一的学术医疗中心.
- 在诊断后至少18个月内分析与CMA完成相关的因素.
主要成果:
- 只有41.9%的ASD患者在18个月内完成了CMA测试.
- CMA完成与患者年龄相反相关,与智力障碍,自闭症家族史和公共保险直接相关.
- 父母的担忧和成本/保险覆盖是主要障碍.
结论:
- 在诊断后实施简化基因测试工作流程至关重要.
- 诊断时提供者建议和随访次数增加与更高的CMA完成相关.
- 针对测试实用性,表型变异性和de novo变异性的遗传咨询可以提高利用率.
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