Geschwind Daniel H
Program in Neurogenetics, Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095-1761, USA.
Annu Rev Med. 2009;60:367-80. doi: 10.1146/annurev.med.60.053107.121225.
Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based on studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research.
自闭症是一种常见的儿童神经发育障碍，具有很强的遗传易感性。它不是一个单一的实体，而是一种临床综合征，在社交行为和语言、狭窄兴趣及重复行为方面存在不同程度的缺陷。自闭症遗传学的最新进展强调了其病因的异质性，每个遗传易感性位点仅占病例的一小部分或影响较小。因此，尚未最终确定统一的结构或神经病理学特征也就不足为奇了。鉴于自闭症谱系障碍（ASD）的异质性，基于研究该疾病的遗传成分或内表型（如语言或社会认知）的方法，为遗传和神经生物学研究提供了有前景的途径。早期强化行为和认知干预在许多情况下是有效的，但大多数儿童的自闭症不会缓解。因此，基于ASD病理生理学和病因学定义的亚型开发靶向治疗方法仍然是当前研究的一个重要且可实现的目标。
