Frye Richard E, Vassall Sarah, Kaur Gurjot, Lewis Christina, Karim Mohammand, Rossignol Daniel
Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ, USA.
Deparment of Child Health, University of Arizona College of Medicine, Phoenix, AZ, USA.
Ann Transl Med. 2019 Dec;7(23):792. doi: 10.21037/atm.2019.11.53.
Autism spectrum disorder (ASD) affects approximately 2% of children in the United States (US) yet its etiology is unclear and effective treatments are lacking. Therapeutic interventions are most effective if started early in life, yet diagnosis often remains delayed, partly because the diagnosis of ASD is based on identifying abnormal behaviors that may not emerge until the disorder is well established. Biomarkers that identify children at risk during the pre-symptomatic period, assist with early diagnosis, confirm behavioral observations, stratify patients into subgroups, and predict therapeutic response would be a great advance. Here we underwent a systematic review of the literature on ASD to identify promising biomarkers and rated the biomarkers in regards to a Level of Evidence and Grade of Recommendation using the Oxford Centre for Evidence-Based Medicine scale. Biomarkers identified by our review included physiological biomarkers that identify neuroimmune and metabolic abnormalities, neurological biomarkers including abnormalities in brain structure, function and neurophysiology, subtle behavioral biomarkers including atypical development of visual attention, genetic biomarkers and gastrointestinal biomarkers. Biomarkers of ASD may be found prior to birth and after diagnosis and some may predict response to specific treatments. Many promising biomarkers have been developed for ASD. However, many biomarkers are preliminary and need to be validated and their role in the diagnosis and treatment of ASD needs to be defined. It is likely that biomarkers will need to be combined to be effective to identify ASD early and guide treatment.
自闭症谱系障碍（ASD）影响着美国约2%的儿童，但其病因尚不清楚，且缺乏有效的治疗方法。如果在生命早期开始治疗干预，效果最为显著，但诊断往往会延迟，部分原因是ASD的诊断基于识别异常行为，而这些行为可能直到疾病充分发展才会出现。能够在症状前期识别有风险儿童、辅助早期诊断、确认行为观察结果、将患者分层为亚组并预测治疗反应的生物标志物将是一项重大进展。在此，我们对关于ASD的文献进行了系统综述，以识别有前景的生物标志物，并使用牛津循证医学中心的量表对这些生物标志物的证据水平和推荐等级进行了评级。我们综述中识别出的生物标志物包括识别神经免疫和代谢异常的生理生物标志物、包括脑结构、功能和神经生理学异常的神经生物标志物、包括视觉注意力非典型发育的细微行为生物标志物、遗传生物标志物和胃肠道生物标志物。ASD的生物标志物可能在出生前和诊断后被发现，有些可能预测对特定治疗的反应。已经为ASD开发了许多有前景的生物标志物。然而，许多生物标志物尚处于初步阶段，需要进行验证，并且它们在ASD诊断和治疗中的作用需要明确。生物标志物可能需要联合使用才能有效地早期识别ASD并指导治疗。
