Center for Behavioral Neuroscience and Communication (BNC), 20132 Milan, Italy.
Faculty of Psychology, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Int J Mol Sci. 2024 Feb 19;25(4):2423. doi: 10.3390/ijms25042423.
Autism spectrum disorder (ASD), affecting over 2% of the pre-school children population, includes an important fraction of the conditions accounting for the heterogeneity of autism. The disease was discovered 75 years ago, and the present review, based on critical evaluations of the recognized ASD studies from the beginning of 1990, has been further developed by the comparative analyses of the research and clinical reports, which have grown progressively in recent years up to late 2023. The tools necessary for the identification of the ASD disease and its related clinical pathologies are genetic and epigenetic mutations affected by the specific interaction with transcription factors and chromatin remodeling processes occurring within specific complexes of brain neurons. Most often, the ensuing effects induce the inhibition/excitation of synaptic structures sustained primarily, at dendritic fibers, by alterations of flat and spine response sites. These effects are relevant because synapses, established by specific interactions of neurons with glial cells, operate as early and key targets of ASD. The pathology of children is often suspected by parents and communities and then confirmed by ensuing experiences. The final diagnoses of children and mature patients are then completed by the combination of neuropsychological (cognitive) tests and electro-/magneto-encephalography studies developed in specialized centers. ASD comorbidities, induced by processes such as anxieties, depressions, hyperactivities, and sleep defects, interact with and reinforce other brain diseases, especially schizophrenia. Advanced therapies, prescribed to children and adult patients for the control of ASD symptoms and disease, are based on the combination of well-known brain drugs with classical tools of neurologic and psychiatric practice. Overall, this review reports and discusses the advanced knowledge about the biological and medical properties of ASD.
自闭症谱系障碍（ASD）影响着超过 2%的学龄前儿童，包括导致自闭症异质性的重要部分。这种疾病在 75 年前被发现，本综述基于对 1990 年初以来公认的 ASD 研究的批判性评估，通过对近年来直至 2023 年底不断增长的研究和临床报告的比较分析得到进一步发展。用于识别 ASD 疾病及其相关临床病理的工具是受特定转录因子相互作用和染色质重塑过程影响的遗传和表观遗传突变，这些过程发生在特定的脑神经元复合物内。通常情况下，随后的影响会导致突触结构的抑制/兴奋，这些结构主要由树突纤维上的平面和棘突反应部位的改变来维持。这些影响很重要，因为突触是由神经元与神经胶质细胞的特定相互作用建立的，是 ASD 的早期和关键靶点。儿童的病理通常由父母和社区怀疑，然后通过后续的经验得到证实。儿童和成年患者的最终诊断随后通过在专门中心进行的神经心理学（认知）测试和电/磁共振脑电图研究的组合来完成。由焦虑、抑郁、多动和睡眠缺陷等过程引起的 ASD 共病与其他脑疾病相互作用并加剧，尤其是精神分裂症。针对 ASD 症状和疾病控制的儿童和成年患者的高级治疗方案是基于将已知的大脑药物与神经和精神实践的经典工具相结合。总的来说，本综述报告并讨论了关于 ASD 的生物学和医学特性的先进知识。
