儿童神经发育拷贝数变异的早期表现:基于人口的调查
Charlotte A Dennison1, Joanna Martin1, Amy Shakeshaft1
1Wolfson Centre for Young People's Mental Health, Cardiff University, Cardiff, United Kingdom; Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, Wales, United Kingdom.
副本数变异 (CNVs) 影响儿童发育,与自闭症谱系障碍 (ASD) 和注意力缺陷/多动性障碍 (ADHD) 等疾病有关. 这些遗传变异与最初诊断之外的更广泛的发育问题有关.
科学领域:
- 遗传学 是一个遗传学.
- 发育儿科 发育儿科
- 儿童心理学 儿童心理学
背景情况:
- 副本数变异 (CNVs) 在儿童中具有临床意义,因为它会对健康产生直接和长期的后果.
- 神经发育 (ND) CNV与智力障碍,自闭症谱系障碍 (ASD) 和注意力缺陷/多动症障碍 (ADHD) 有关.
- 在未经选择的人群中,ND CNVs对早期发育的影响仍未得到充分研究.
研究的目的:
- 研究已知的神经发育 (ND) CNVs与英国未经选择的出生队列中广泛的早期发育结果之间的关联.
- 为了识别 ND CNVs 的更广泛的影响,超出了常见的诊断条件,如 ASD 和 ADHD.
主要方法:
- 分析了两个英国出生队列,ALSPAC和MCS,确定已知的ND CNVs的携带者.
- 评估CNV携带者状况与分娩并发症,学前发展,认知能力,ND状况以及精神病,社会和教育结果之间的关联.
- 在两个队列之间对已识别的表型进行了元分析.
主要成果:
- 在ALSPAC队列中,ND CNV与较低的认知能力,ADHD和ASD有关.
- 携带ND CNV的携带者表现出早产,运动迟缓,协调困难,语言和阅读障碍以及特殊教育需求 (SEND) 的可能性增加.
- 分析证实了ASD,ADHD,低出生体重,阅读困难,SEND和同龄人问题的风险增加.
结论:
- ND CNV 与各种各样的发育影响有关.
- 意识到CNV的影响应该超越治疗智力障碍,自闭症或多动症的专家,扩展到其他专业人士,如语音和语言治疗师.
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