在儿童和青少年精神病学实践中导航神经遗传学
Aaron J Hauptman1, Jay A Salpekar1, Julie S Cohen1
1Kennedy Krieger Institute, Baltimore, Maryland, and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Journal of the American Academy of Child and Adolescent Psychiatry
|February 7, 2024
概括
基因检测在约40%的病例中诊断出神经发育障碍 (NDD). 技术和基因发现的进步将改善这些复杂的发育条件的诊断产量.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学是一种遗传学.
- 发展生物学 发展生物学
背景情况:
- 神经发育障碍 (NDD) 影响认知,沟通,运动技能和行为.
- 这些终身状况极大地影响了人们的日常生活.
- 遗传综合征是NDD的主要原因,影响6分之一的儿童.
研究的目的:
- 总结一下对NDDs的基因检测的诊断产量.
- 突出NDDs遗传原因的异质性.
- 为了预测NDD诊断的未来改进.
主要方法:
- 对NDD种群的基因测试结果的元分析.
- 对已知的单一性疾病和与NDD相关的染色体异常的审查.
主要成果:
- 通过基因测试对NDD的整体诊断收益率约为40%.
- 收益率各不相同:全球发育迟缓/智力障碍的收益率为30-50%,自闭症谱系障碍的收益率为15-20%.
- 确定的原因包括副本数变异和2000多种单基性疾病.
结论:
- 基因检测是诊断NDD的一个有价值的工具.
- NDDs的遗传景观是复杂和异质的.
- 技术进步将提高NDD的未来诊断能力.
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