自闭症谱系障碍:历史、概念和未来展望

N. I. da Silva
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摘要

本文简要叙述了自闭症谱系障碍(ASD)最早可能的描述,直到Leo Kanner和Hans Asperger的出版,然后报告了其定义和概念的演变,并将其首次列入ICD(国际疾病和健康相关问题统计分类)和DMS(精神障碍诊断和统计手册)直到其最新版本。它讨论了以异质表现和相关合并症为特征的临床表现。本文还介绍了遗传和环境因素在疾病病因学中的作用,基于临床观察和缺乏生物标志物的诊断,讨论了药物治疗和教学方法的有效性和局限性,同样揭示了ASD可能的研究方向,从生物库的生产发展为症状,遗传改变,生理功能障碍,目的是识别自闭症个体的亚群,从而能够针对个性化和更有效的干预措施。
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Autism Spectrum Disorder: History, Concept and Future Perspective
The article narrates a brief history about the first possible descriptions of autism spectrum disorder (ASD) until the publication of Leo Kanner and Hans Asperger, then reports the evolution of its definition and concept, contextualizing its first inclusion in the ICD (International Statistical Classification of Diseases and Health related problems) and DMS (Diagnostic and statistical Manual of mental disorders) up to its latest versions. It discusses the clinical picture characterized by heterogeneous manifestation and associated comorbidities. This article also presents the weight of the contribution of genetic and environmental factors in the etiology of the disorder, t he diagnosis based on clinical observation and absence of biomarkers, discussions th and efficacy and limitation of pharmacological treatment and pedagogical approaches, similarly exposes a possible research strand for ASD, developed from the production of biobanks as a source of investigation of symptoms, genetic alterations, physiological dysfunctions with the objective of identifying subgroups of individuals with ASD and thus enable the targeting of individualized and more effective interventions.
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