在更广泛的自闭症现象型中,Endophenotyping社会认知
Emmanuel Peng Kiat Pua1, Tarishi Desai2, Cherie Green3
1Department of Medicine and Radiology, Austin Health, The University of Melbourne, Melbourne, Victoria, Australia.
概括
自闭症谱系障碍 (ASD) 患者的亲属表现出遗传的社会认知困难. 在社会话语中不典型的错误检测可能成为ASD风险的新型内分类型.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 心理学 心理学 心理学
背景情况:
- 自闭症谱系障碍 (ASD) 亲属可能表现出更广泛的自闭症表型 (BAP) 的较轻微的社会特征.
- 这些BAP特征可以作为ASD遗传风险的潜在内型标记物.
- 了解这些家族模式对于确定ASD的遗传基础至关重要.
研究的目的:
- 与对照人群相比,对BAP个体的社会认知和务实语言困难进行量化.
- 检查ASD家庭中社会认知缺陷的遗传模式.
- 通过深度表型识别来识别ASD的潜在内分类型.
主要方法:
- 使用虚假传递测试 (FPT) 和高盛-艾斯勒卡通任务进行病例对照比较.
- 在两个大型多重家族和32个额外的家族 (159个成员) 中,社会认知的深度表型化.
- 与社区对照组相比,对ASD,BAP和未受影响的亲属表现的分析.
主要成果:
- 与对照人群相比,BAP个体表现明显较差的FPT表现和减少的口语流性.
- 在ASD,BAP和未受影响的亲属中观察到一个分级的社会认知困难谱.
- 在89%的自闭症成员中,在63%的BAP亲属中,在多人家庭中,在50%的不受影响的亲属中,FPT表现下降.
结论:
- 患有自闭症的人的亲属表现出分级社会认知困难的遗传模式.
- 在社会话语中不典型的错误检测是ASD的新型候选内型.
- 这些发现突出了社会认知缺陷在ASD风险的家族传播中的作用.
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