TRANSCEND Research Program, Pediatric Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, USA.
Curr Opin Neurol. 2010 Apr;23(2):103-10. doi: 10.1097/WCO.0b013e328336a01f.
This review presents a rationale and evidence for contributions of environmental influences and environmentally vulnerable physiology to autism spectrum disorders (ASDs).
Recent studies suggest a substantial increase in ASD prevalence above earlier Centers for Disease Control figures of one in 150, only partly explicable by data artifacts, underscoring the possibility of environmental contributors to increased prevalence. Some gene variants in ASD confer altered vulnerability to environmental stressors and exposures. De-novo mutations and advanced parental age as a risk factor for ASD also suggest a role for environment. Systemic and central nervous system pathophysiology, including oxidative stress, neuroinflammation, and mitochondrial dysfunction can be consistent with a role for environmental influence (e.g. from air pollution, organophosphates, heavy metals) in ASD, and some of the underlying biochemical disturbances (such as abnormalities in glutathione, a critical antioxidant and detoxifier) can be reversed by targeted nutritional interventions. Dietary factors and food contaminants may contribute risk. Improvement and loss of diagnosis in some with ASD suggest brain circuitry amenable to environmental modulation.
Prevalence, genetic, exposure, and pathophysiological evidence all suggest a role for environmental factors in the inception and lifelong modulation of ASD. This supports the need for seeking targets for early and ongoing medical prevention and treatment of ASD.
本篇综述旨在提出环境影响和易感性生理因素对自闭症谱系障碍（ASD）的作用的基本原理和证据。
最近的研究表明，ASD 的患病率显著上升，高于疾病控制与预防中心早期报告的每 150 人中就有 1 例的数字，这部分仅可用数据假象来解释，这突显了环境因素可能导致发病率上升的可能性。ASD 中的一些基因变异会导致对环境应激源和暴露的易感性改变。新生突变和高龄父母是 ASD 的风险因素，这也表明环境的作用。全身和中枢神经系统的病理生理学，包括氧化应激、神经炎症和线粒体功能障碍，与 ASD 中环境影响（例如来自空气污染、有机磷酸酯、重金属）的作用一致，一些潜在的生化紊乱（如谷胱甘肽的异常，谷胱甘肽是一种关键的抗氧化剂和解毒剂）可以通过靶向营养干预来逆转。饮食因素和食物污染物可能会增加风险。一些 ASD 患者的改善和丧失诊断表明，大脑回路容易受到环境的调节。
患病率、遗传学、暴露和病理生理学的证据均表明，环境因素在 ASD 的发生和终身调节中起作用。这支持了寻找 ASD 早期和持续医学预防和治疗目标的必要性。
