孤独症谱系障碍作为一种复杂的神经发育性疾病,其临床表现具有高度异质性。泛孤独症表型作为孤独症谱系障碍患者亲属中常见的亚临床症候群,涵盖了一系列与孤独症谱系障碍相似的轻度症状。孤独特质则指一般人群中广泛存在的与孤独症谱系障碍相关的行为特征。在阐述两者的核心概念、功能表现和影响机制的基础上,基于遗传与脑功能的分析,探讨了二者的神经生物学关联,这不仅能帮助揭示孤独症谱系障碍的发病机制,还为临床诊断和干预提供理论依据。Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by high clinical heterogeneity. The Broad Autism Phenotype (BAP) is a common subclinical syndrome among relatives of individuals with ASD, encompassing a range of mild symptoms similar to ASD. Autistic traits refer to the widely prevalent behavioral characteristics associated with ASD in the general population. This study elucidates the core concepts, functional expressions, and mechanisms of influence for both BAP and autistic traits. By analyzing the genetic and brain function basis, the neurobiological associations between the two are explored, which not only helps to reveal the pathogenesis of ASD but also provides a theoretical basis for clinical diagnosis and intervention.