Department of Psychiatry, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Neurosci Biobehav Rev. 2011 May;35(6):1363-96. doi: 10.1016/j.neubiorev.2011.02.015. Epub 2011 Mar 4.
We propose to bring together the hitherto rather separate research fields of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), and argue that by contrasting and combining findings of the endophenotypes of ASD and ADHD new insights can be gained into the etiology and pathophysiology of these two disorders. Given the highly heritable nature of both disorders, studies of the genes explaining the shared origins of the two neurodevelopmental disorders seem particularly called for. Instead of the clinical diagnosis, using neurocognitive measures as (endo)phenotypes that index genetic liability appears a powerful tool in gene finding. We, therefore, extensively reviewed the literature and not only included research wherein ASD and ADHD were compared within a single study, but extended our search also to the separate lines of cognitive neuroscience research. We discuss which cognitive and brain measures will be useful in future genetic studies targeting pleiotropic genes for ASD and ADHD. By specifying the most promising endophenotypic measures we chart the future course for endophenotypic research in ASD and ADHD. We also discuss the various models that may explain the frequent co-occurrence of ASD and ADHD.
我们建议将自闭症谱系障碍（ASD）和注意缺陷多动障碍（ADHD）这两个迄今为止相对独立的研究领域结合起来，并认为通过对比和结合 ASD 和 ADHD 的内表型研究结果，可以深入了解这两种疾病的病因和病理生理学。鉴于这两种疾病具有高度遗传性，因此特别需要研究解释这两种神经发育障碍共同起源的基因。使用神经认知测量作为（内）表型来指示遗传易感性，而不是采用临床诊断，这似乎是发现基因的有力工具。因此，我们广泛回顾了文献，不仅包括在单一研究中比较 ASD 和 ADHD 的研究，还扩展了我们的搜索范围，纳入了认知神经科学研究的单独研究线。我们讨论了哪些认知和大脑测量将有助于未来针对 ASD 和 ADHD 的多效基因的遗传研究。通过指定最有前途的内表型测量方法，我们为 ASD 和 ADHD 的内表型研究指明了未来的方向。我们还讨论了可能解释 ASD 和 ADHD 频繁共病的各种模型。
