Rapin Isabelle, Tuchman Roberto F
Saul R. Korey Department of Neurology, Department of Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Curr Opin Neurol. 2008 Apr;21(2):143-9. doi: 10.1097/WCO.0b013e3282f49579.
Autism is now recognized in one out of 150 children. This review highlights the topics within the growing autism literature that are shaping current thinking on autism and advancing research and clinical understanding of autism spectrum disorders.
The role of single-stranded microdeletions and epigenetic influences on brain development has dramatically altered our understanding of the etiology of the autisms. Recent research has focused on the role of synapse structure and function as central to the development of autism and suggests possible targets of interventions. Brain underconnectivity has been a focus in recent imaging studies and has become a central theme in conceptualizing autism. Despite increased awareness of autism there is no 'epidemic' and no one cause for autism. Data from the sibling studies are identifying early markers of autism and defining the broader autism phenotype.
Larger datasets in genetics, a focus on the early signs of autism, and increased recognition of the importance of defining subgroups of children with autism are leading to a greater understanding of the etiologies of autism. A growing interest in defining the molecular biology of social cognition, which is at the core of autism, will lead to expansion of our presently limited choices of mechanistically based interventions.
目前每150名儿童中就有1名被诊断为自闭症。本综述重点介绍了自闭症相关文献中不断增多的一些主题，这些主题正在塑造当前对自闭症的认识，并推动对自闭症谱系障碍的研究及临床理解。
单链微缺失和表观遗传对大脑发育的影响极大地改变了我们对自闭症病因的理解。近期研究聚焦于突触结构和功能在自闭症发展过程中的核心作用，并提出了可能的干预靶点。大脑连接不足是近期影像学研究的重点，且已成为自闭症概念化过程中的一个核心主题。尽管人们对自闭症的认识有所提高，但并没有出现 “流行” 现象，自闭症也并非由单一原因导致。来自同胞研究的数据正在识别自闭症的早期标志物，并界定更广泛的自闭症表型。
遗传学领域更大的数据集、对自闭症早期迹象的关注以及对明确自闭症儿童亚组重要性的更多认识，正使我们对自闭症病因有更深入的理解。对界定社会认知分子生物学（自闭症的核心）的兴趣日益浓厚，这将促使我们目前基于机制的有限干预选择得到扩展。
