注意缺陷多动障碍研究进展：从神经生物学基础到临床实践的整合性综述

Advances in Attention-Deficit/Hyperactivity Disorder Research: An Integrative Review from Neurobiological Foundations to Clinical Practice

摘要: 注意缺陷多动障碍(ADHD)是一种以注意缺陷、多动和冲动为核心特征的神经发育障碍，全球儿童患病率约5%~7%，其中约40%~60%的病例症状持续至成年期。本文系统综述了ADHD的流行病学、病因学、神经生物学机制、临床评估与诊断、治疗策略及共病管理等领域的近期研究进展。遗传学研究证实ADHD具有高度遗传性(70%~80%)，呈多基因遗传模式，涉及多巴胺、去甲肾上腺素和血清素系统等多个神经递质通路基因。神经影像学证据揭示了前额叶–纹状体–小脑环路的结构与功能异常，以及默认模式网络的功能失调。早期逆境通过下丘脑–垂体–肾上腺轴失调和表观遗传修饰影响ADHD的病程轨迹。治疗方面，中枢兴奋剂仍为一线药物，非兴奋剂为有效补充，而神经调控(包括神经反馈、经颅直流电刺激、重复经颅磁刺激和三叉神经电刺激)和数字疗法作为新兴的辅助治疗手段，为个体化治疗提供了新选择，但其核心症状改善证据仍有限。本综述强调ADHD作为一种贯穿生命全程的疾病，其研究正从静态的缺陷模型转向动态的神经认知框架，未来需进一步整合多组学证据并关注性别差异和文化因素。

Abstract: Attention-Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder characterized by core symptoms of inattention, hyperactivity, and impulsivity, with a global prevalence of approximately 5%~7% in children, of which 40%~60% persist into adulthood. This review systematically synthesizes recent advances in ADHD research encompassing epidemiology, etiology, neurobiological mechanisms, clinical assessment and diagnosis, treatment strategies, and comorbidity management. Genetic studies confirm the high heritability of ADHD (70%~80%) with a polygenic inheritance pattern involving multiple neurotransmitter pathway genes, including dopaminergic, noradrenergic, and serotonergic systems. Neuroimaging evidence reveals structural and functional abnormalities in prefrontal-striatal-cerebellar circuits, as well as dysfunction of the default mode network. Early life adversity influences the developmental trajectory of ADHD through hypothalamic-pituitary-adrenal axis dysregulation and epigenetic modifications. Regarding treatment, psychostimulants remain first-line pharmacotherapy, while non-stimulants serve as effective supplements. Neuromodulation techniques—including neurofeedback, transcranial direct current stimulation, repetitive transcranial magnetic stimulation, and trigeminal nerve stimulation—along with digital therapeutics, have emerged as novel adjunctive treatment options offering new possibilities for personalized care, although evidence for core symptom improvement remains limited. This review emphasizes that ADHD, as a lifespan disorder, is undergoing a paradigm shift from static deficit models toward dynamic neurocognitive frameworks. Future research needs to integrate multi-omics evidence and pay greater attention to sex/gender differences and cultural factors.