自闭症的遗传异质性轴按诊断时的年龄进行索引,并与不同的发育和心理健康配置文件相关联
Xinhe Zhang1,2, Jakob Grove3,4,5,6, Yuanjun Gu1,2
1Department of Psychiatry, University of Cambridge.
medRxiv : the preprint server for health sciences
|August 12, 2024
概括
自闭症诊断年龄因发育轨迹和遗传因素而异. 一些遗传特征与早期诊断和沟通挑战有关,而另一些则与晚期诊断和ADHD等共同发生的疾病有关.
科学领域:
- 发育神经科学的发展神经科学.
- 精神病学遗传学 精神病学遗传学
- 自闭症谱系障碍研究研究
背景情况:
- 自闭症谱系障碍 (ASD) 在幼儿时代可能并不总是表现出明显的症状.
- 社会情感行为的发展轨迹在患有自闭症的个体之间可能有很大的差异.
- 了解影响自闭症诊断年龄的因素对于早期干预和支持至关重要.
研究的目的:
- 调查社会情绪行为不同发展轨迹与自闭症诊断时的年龄之间的关联.
- 探索ASD的遗传特征是否随着诊断时的年龄而变化.
- 确定导致ASD呈现和并发症异质性的遗传因素.
主要方法:
- 利用四个出生队伍的纵向数据来追踪发育轨迹.
- 使用遗传分析来评估ASD诊断时的年龄遗传性 (SNP遗传性).
- 检查了诊断时年龄之间的遗传相关性,并确定了自闭症多遗传因素.
主要成果:
- 确定了与不同年龄的自闭症诊断相关的两个不同的社会情绪行为轨迹.
- 在ASD诊断时的年龄部分是遗传的 (h2SNP = 0.12) 并与两个相关的自闭症多原因子相关 (rg = 0.38).
- 一个遗传因素与早期诊断和较差的早期社会沟通技巧相关;另一个与晚期诊断,青少年社会情感问题以及同时发生的多动症,心理健康状况和创伤相关.
结论:
- 在ASD诊断时的年龄作为自闭症谱系障碍中异质性的指标.
- 这种异质性,根据诊断年龄进行索引,有助于解释临床表现的变化和同时发生的神经发育和心理健康状况.
- 这些发现为理解自闭症多样性提供了一个模型,并对概念化这种疾病产生了影响.
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