泛孤独症表型筛查、多维成因及早期识别

Screening, multidimensional causes and early identification of broad autism phenotypes

摘要

泛孤独症表型(BAP)是一组与孤独症谱系障碍(ASD)相似的非病理性亚临床表现,其特征主要表现为语言迟缓、社交回避、语用语言障碍等。当前,BAP群体的功能水平差异显著,风险因素复杂多样,且现有筛查工具多基于ASD诊断标准,缺乏对BAP轻度特征的敏感识别,评估维度亦显单一,难以全面反映其发展特征与需求。本文通过从社会生物遗传因素与社会生态环境的双重视角出发,系统梳理BAP的核心概念与常用筛查评估工具,探讨其多维成因机制,为BAP的早期识别与干预提供理论支持。

Abstract

The broad autism phenotype (BAP) refers to a set of sub-clinical, non-pathological characteristics that are similar to those in autism spectrum disorder (ASD), primarily manifested as language delays, social avoidance, and pragmatic language difficulties. At present, individuals with BAP exhibit significant variability functional levels and are influenced by a complex array of risk factors. Existing screening tools, however, are largely based on ASD diagnostic criteria, rendering them insufficiently sensitive to the milder traits of BAP and overly narrow in their assessment domains. Consequently, these tools fail to capture the full developmental profile and needs of this population. By integrating socio-biological-genetic factors with socio-ecological influences, this paper systematically reviews the core constructs of BAP and commonly used screening and assessment measures, explores its multidimensional etiological mechanisms, and aims to provide a theoretical foundation for the early identification and intervention of BAP.

关键词

孤独症谱系障碍 / 泛孤独症表型 / 早期识别 / 儿童

Key words

autism spectrum disorder / broad autism phenotype / early identification / children

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