Schaefer G Bradley
University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, Slot 512-22, Little Rock, AR 72202, USA.
Int J Mol Sci. 2016 Jan 29;17(2):180. doi: 10.3390/ijms17020180.
Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%-40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable) are likely to be associated with the currently unidentifiable cases. Today, the "Why" is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in "personalized medicine", identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD.
早期的推测认为，自闭症谱系障碍（ASD）与情感疏离的母亲养育这些孩子有关。20世纪60年代和70年代的进展清楚地证明了自闭症具有高遗传性的生物学基础。最近的进展表明，在30%-40%的自闭症谱系障碍病例中可以确定特定的病因因素。基于早期报告，更新的新兴基因组技术可能会将这一诊断率提高到50%以上。迄今为止，这些研究主要集中在很大程度上为单因素的病因上。目前尚未诊断出的自闭症病因可能会被发现具有更复杂的原因。表观遗传学、多个相互作用的基因座以及四维病因（将时间作为一个变量）可能与目前无法识别的病例有关。如今，“为什么”比以往任何时候都更加重要。了解自闭症的病因有助于让家庭了解诸如复发风险、预后、自然病史以及预测相关的合并症等重要问题。在当前“个性化医疗”不断涌现的时代，确定病因对于识别内表型组和个体差异至关重要，这将有助于为自闭症患者量身定制治疗方案。
