自闭症的多基因和发育特征因诊断时的年龄而异
Xinhe Zhang1,2, Jakob Grove3,4,5,6,7, Yuanjun Gu8,9
1Department of Psychiatry, University of Cambridge, Cambridge, UK. xz452@cam.ac.uk.
Nature
|October 1, 2025
概括
在童年及晚年被诊断为自闭症的患者有不同的发育路径和遗传基础. 遗传因素影响自闭症诊断年龄,揭示了两种与不同发展轨迹相关的多基因特征.
科学领域:
- 神经发育障碍
- 遗传学和行为科学
背景情况:
- 自闭症通常被认为是儿童的疾病,
- 早期和晚期诊断的自闭症之间的发展轨迹和遗传特征的差异仍然不清楚.
研究的目的:
- 调查不同年龄段诊断的自闭症是否具有不同的发育轨迹和遗传特征.
- 探索导致自闭症诊断的遗传结构.
主要方法:
- 来自自自闭症个体的四个独立出生队伍的纵向数据分析.
- 检查常见的遗传变异及其对诊断时年龄差异的贡献.
- 将自闭症的多基因结构分解为不同的因素,并评估与ADHD和心理健康状况的遗传相关性.
主要成果:
- 两种不同的社会情绪和行为轨迹被确定,与自闭症诊断时的年龄有关.
- 常见的遗传变异解释了诊断时年龄差异的11%.
- 发现了两个自闭症多基因因素:一个与早期诊断和较低的儿童社会/沟通能力有关,另一个与晚期诊断和青少年增加的困难有关,与多动症和心理健康状况有不同的相关性.
结论:
- 早期和晚期诊断的自闭症表现出不同的发育轨迹和遗传特征.
- 这些发现表明对自闭症异质性的理解有细微差别,超越单一的发展模式.
- 这些见解对于自闭症的概念化和解释其不同表现至关重要.
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