Understanding autism: Causes, diagnosis, and advancing therapies

IF 3.7 3区医学 Q2 NEUROSCIENCES

Brain Research Bulletin Pub Date : 2025-05-29 DOI:10.1016/j.brainresbull.2025.111411

Min Wang , Xiaozhuang Zhang , Liyan Zhong , Liqin Zeng , Ling Li , Paul Yao

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Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition marked by difficulties in social communication, languages, and repetitive behaviors. Its rising prevalence has made it a critical global public health issue. ASD is believed to arise from a combination of genetic and environmental influences. While some gene mutations associated with ASD have been identified, most cases lack clear genetic explanations. Evidence increasingly points to early-life environmental factors as key contributors to ASD, including advanced parental age, maternal diabetes during pregnancy, infections, hormonal imbalances, certain medications, and exposure to air pollution. Currently, ASD diagnosis relies on behavioral assessments, but the absence of specific molecular biomarkers poses significant obstacles to early detection and targeted therapies. Encouragingly, research has identified potential biomarkers, such as neuroimaging classifiers, electroencephalography patterns, eye-tracking data, digital analytics, gene expression profiles, inflammatory and chemokine markers, proteomic and metabolomic profiles, and gut microbiota characteristics. Potential therapeutical strategies under investigation include digital therapies, non-invasive brain stimulation, antioxidants, oxytocin, AVPR1a antagonists, PPAR agonists, and mTOR inhibitors. This review explores ASD across five areas: epidemiological trends, genetic mechanisms, early-life environmental factors and their potential roles, diagnostic biomarkers, and therapeutic approaches.

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了解自闭症：病因、诊断和改进治疗

自闭症谱系障碍（ASD）是一种以社会沟通、语言和重复行为困难为特征的神经发育疾病。其流行率不断上升，已成为一个严重的全球公共卫生问题。自闭症谱系障碍被认为是遗传和环境共同影响的结果。虽然已经确定了一些与ASD相关的基因突变，但大多数病例缺乏明确的遗传解释。越来越多的证据表明，早期生活环境因素是ASD的关键因素，包括父母高龄、怀孕期间的母亲糖尿病、感染、激素失衡、某些药物和暴露于空气污染。目前，ASD的诊断依赖于行为评估，但缺乏特定的分子生物标志物，这对早期发现和靶向治疗构成了重大障碍。令人鼓舞的是，研究已经确定了潜在的生物标志物，如神经成像分类器、脑电图模式、眼动追踪数据、数字分析、基因表达谱、炎症和趋化因子标记、蛋白质组学和代谢组学谱以及肠道微生物群特征。正在研究的潜在治疗策略包括数字疗法、非侵入性脑刺激、抗氧化剂、催产素、AVPR1a拮抗剂、PPAR激动剂和mTOR抑制剂。本文从流行病学趋势、遗传机制、早期生活环境因素及其潜在作用、诊断生物标志物和治疗方法五个方面对ASD进行了探讨。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Brain Research Bulletin 医学-神经科学

CiteScore

6.90

自引率

2.60%

发文量

253

审稿时长

67 days

期刊介绍： The Brain Research Bulletin (BRB) aims to publish novel work that advances our knowledge of molecular and cellular mechanisms that underlie neural network properties associated with behavior, cognition and other brain functions during neurodevelopment and in the adult. Although clinical research is out of the Journal''s scope, the BRB also aims to publish translation research that provides insight into biological mechanisms and processes associated with neurodegeneration mechanisms, neurological diseases and neuropsychiatric disorders. The Journal is especially interested in research using novel methodologies, such as optogenetics, multielectrode array recordings and life imaging in wild-type and genetically-modified animal models, with the goal to advance our understanding of how neurons, glia and networks function in vivo.