自闭症病因学、自闭症发病机理

邓文龙

自闭症病因学：
自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，其确切病因尚未完全明确。现有研究表明，遗传和环境因素共同作用可能导致ASD的发生。
遗传因素：
        •        基因关联： 多项研究发现，ASD与多种基因有关，涉及神经系统和免疫系统等多个方面。这些基因的变异可能影响大脑的发育和功能。
        •        家族聚集性： ASD在家族中有一定的聚集现象，同卵双胞胎同时患病的概率高于异卵双胞胎，提示遗传因素在ASD中起重要作用。
环境因素：
        •        孕期影响： 母亲在孕期遭受病毒感染、服用某些药物、吸烟、情绪不稳等可能增加子女患ASD的风险。
        •        环境暴露： 接触重金属（如铅）、杀虫剂等环境毒素可能与ASD的发生有关。
疫苗与ASD：
大量研究已证实，儿童疫苗接种与ASD之间不存在关联。避免接种疫苗可能使儿童面临感染严重疾病的风险。
需要注意的是，ASD的病因复杂，涉及多种遗传和环境因素的交互作用。目前尚无单一因素被确定为ASD的直接原因。未来的研究将继续深入探讨这些因素如何共同影响ASD的发生和发展。
( Software translation )  Autism Etiology: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder whose exact etiology is not fully understood. Existing research suggests that a combination of genetic and environmental factors may contribute to the development of ASD.
Genetic factors:
· Genomicassociations: Multiple studies have linked ASD to multiple genomesinvolving aspects of the nervous system and immune system.Variations in these genes may affect brain development and function.
· Familial aggregation: ASD has a certain aggregation phenomenon in the family, and the probability of simultaneous disease in identical twins is higher than that in fraternal twins, suggesting that genetic factors play an important role in ASD.
Environmental factors:
· Pregnancy effects: A mother's exposure to toxic infections during pregnancy, taking certain drugs, smoking, and emotional instability may increase the risk of developing ASD in her child.
· Environmental exposure: Exposure to environmental toxins such as heavy metals (e.g. lead) and pesticides may be associated with the development of ASD.
Vaccines and ASD:
A large number of studies have confirmed that there is no association between childhood vaccination and ASD. Avoiding vaccinations can put children at risk of contracting serious diseases.
It is important to note that the etiology of ASD is complex, involving the interaction of multiple genetic and environmental factors. No single factor has been identified as a direct cause of ASD. Future research will continue to delve into how these factors work together to influence the occurrence and development of ASD.



自闭症发病机理 ：
自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，其确切的发病机制尚未完全明确。现有研究表明，遗传和环境因素共同作用可能导致ASD的发生。
遗传因素：
        •        基因关联： 多项研究发现，ASD与多种基因有关，涉及神经系统和免疫系统等多个方面。这些基因的变异可能影响大脑的发育和功能。例如，SH3RF2基因的突变被认为可能与ASD的发生有关。  
        •        家族聚集性： ASD在家族中有一定的聚集现象，同卵双胞胎同时患病的概率高于异卵双胞胎，提示遗传因素在ASD中起重要作用。
环境因素：
        •        孕期影响： 母亲在孕期遭受病毒感染、服用某些药物、吸烟、情绪不稳等可能增加子女患ASD的风险。
        •        环境暴露： 接触重金属（如铅）、杀虫剂等环境毒素可能与ASD的发生有关。
神经生物学机制：
        •        突触功能异常： 研究发现，ASD患者的大脑中，神经元之间的连接（即突触）可能存在功能异常，影响神经信号的传递。  
        •        神经炎症： 在ASD患者的大脑中，观察到免疫系统的异常激活和炎症反应，提示神经炎症可能在ASD的发病中起作用。  
需要注意的是，ASD的病因复杂，涉及多种遗传和环境因素的交互作用。目前尚无单一因素被确定为ASD的直接原因。未来的研究将继续深入探讨这些因素如何共同影响ASD的发生和发展。
( Software translation )   Autism Pathogenesis: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder whose exact pathogenesis is not fully understood. Existing research suggests that a combination of genetic and environmental factors may contribute to the development of ASD.
Genetic factors:
· Genomicassociations: Multiple studies have linked ASD to multiple genomesinvolving aspects of the nervous system and immune system.Variations in these genes may affect brain development and function. For example, mutations in the SH3RF2 gene are thought to be potentially involved in the development of ASD.  
· Familial aggregation: ASD has a certain aggregation phenomenon in the family, and the probability of simultaneous disease in identical twins is higher than that in fraternal twins, suggesting that genetic factors play an important role in ASD.
Environmental factors:
· Pregnancy effects: A mother's exposure to toxic infections during pregnancy, taking certain drugs, smoking, and emotional instability may increase the risk of developing ASD in her child.
· Environmental exposure: Exposure to environmental toxins such as heavy metals (e.g. lead) and pesticides may be associated with the development of ASD.
Neurobiological mechanisms:
· Dysfunctional synapses: Studies have found that the connections between the neurons (i.e. synapses) in the brains of people with ASD may be dysfunctional, affecting the transmission of nerve signals.  
· Neuroinflammation: Abnormal activation of the immune system and inflammatory responses are observed in the brains of patients with ASD, suggesting a possible role for neuroinflammation in the pathogenesis of ASD.  
It is important to note that the etiology of ASD is complex, involving the interaction of multiple genetic and environmental factors. No single factor has been identified as a direct cause of ASD. Future research will continue to delve into how these factors work together to influence the occurrence and development of ASD.