Tuchman Roberto F
Miami Children’s Hospital, Dan Marino Center, Weston, Florida, USA.
Rev Neurol. 2013 Feb 22;56 Suppl 1:S3-12.
Autism spectrum disorder (ASD) is a term used to describe a heterogeneous group of children whose behaviorally defined characteristics overlap with the clinical manifestations of a variety of distinct behaviorally defined developmental disorders. ASD has many etiologies and strong but complex genetic and molecular underpinnings supporting genetic and phenotypic heterogeneity. Clinical and biological heterogeneity in ASD is consistent with the view of autism spectrum disorders as the expression of atypical brain development resulting in variable clinical manifestations that reflect differences in specific genetic and molecular pathways. It is likely that there are risk genes and early environmental risk factors for ASD that contribute to an altered trajectory of brain and behavioral development. These alterations are hypothesized to lead to altered social interaction and consequently to abnormal development of the neural networks critical for social and communicative interaction. This amplifies the abnormal socio-communicative developmental process leading to the full ASD syndrome. The hope is that interventions can alter these early developmental processes and put an infant back on a more typical developmental trajectory. In this discussion an overview of the limitations of the triad of behaviors used to diagnose ASD, specifically from the perspective of how these issues impact diagnosis and treatment of children with ASD will be presented and the clinical boundaries of the autism spectrum will be explored.
自闭症谱系障碍（ASD）是一个用于描述一组异质性儿童的术语，这些儿童行为定义的特征与多种不同行为定义的发育障碍的临床表现重叠。ASD有许多病因，并且有强大但复杂的遗传和分子基础，支持遗传和表型异质性。ASD中的临床和生物学异质性与自闭症谱系障碍的观点一致，即自闭症谱系障碍是大脑非典型发育的表现，导致可变的临床表现，反映特定遗传和分子途径的差异。很可能存在ASD的风险基因和早期环境风险因素，这些因素会导致大脑和行为发育轨迹改变。据推测，这些改变会导致社交互动改变，进而导致对社交和交流互动至关重要的神经网络异常发育。这会加剧异常的社会交往发育过程，导致完全的ASD综合征。希望干预措施能够改变这些早期发育过程，使婴儿回到更典型的发育轨迹。在本次讨论中，将概述用于诊断ASD的三联征行为的局限性，特别是从这些问题如何影响ASD儿童的诊断和治疗角度进行概述，并探讨自闭症谱系的临床界限。
