INSERM U894, Centre Psychiatrie et Neurosciences, Paris 75014, France.
Pediatr Res. 2011 May;69(5 Pt 2):69R-76R. doi: 10.1203/PDR.0b013e318212b40f.
Attention deficit/hyperactivity disorder (ADHD), a prevalent neurodevelopmental disorder, has been associated with various structural and functional CNS abnormalities but findings about neurobiological mechanisms linking genes to brain phenotypes are just beginning to emerge. Despite the high heritability of the disorder and its main symptom dimensions, common individual genetic variants are likely to account for a small proportion of the phenotype's variance. Recent findings have drawn attention to the involvement of rare genetic variants in the pathophysiology of ADHD, some being shared with other neurodevelopmental disorders. Traditionally, neurobiological research on ADHD has focused on catecholaminergic pathways, the main target of pharmacological treatments. However, more distal and basic neuronal processes in relation with cell architecture and function might also play a role, possibly accounting for the coexistence of both diffuse and specific alterations of brain structure and activation patterns. This article aims to provide an overview of recent findings in the rapidly evolving field of ADHD neurobiology with a focus on novel strategies regarding pathophysiological analyses.
注意缺陷多动障碍（ADHD）是一种常见的神经发育障碍，与各种结构和功能中枢神经系统异常有关，但将基因与大脑表型联系起来的神经生物学机制的研究结果才刚刚开始出现。尽管该疾病及其主要症状维度具有很高的遗传性，但常见的个体遗传变异可能只占表型变异的一小部分。最近的研究结果引起了人们对 ADHD 病理生理学中罕见遗传变异的关注，其中一些与其他神经发育障碍共享。传统上，ADHD 的神经生物学研究集中在儿茶酚胺能途径上，这是药物治疗的主要靶点。然而，与细胞结构和功能相关的更远端和更基本的神经元过程也可能发挥作用，可能解释了大脑结构和激活模式的弥漫性和特异性改变同时存在的现象。本文旨在提供 ADHD 神经生物学这一快速发展领域的最新研究结果概述，重点介绍病理生理学分析的新策略。
