Center for Autism Spectrum Disorders, SUSA Foundation, 54521University of Mons, Belgium.
Faculty of Medicine, Psychiatry and Addictology Department, University of Montreal, Montreal, Quebec, Canada.
Can J Psychiatry. 2022 May;67(5):331-335. doi: 10.1177/07067437211041469. Epub 2021 Sep 6.
The "autism spectrum disorder" (ASD) construct and its current diagnostic criteria have led to the inclusion of increasingly heterogeneous and decreasingly atypical individuals under its definition. This broad category, based on the polymorphic clinical expression of common genetic variants underpinning the risk of autism, is likely beneficial for certain individuals. However, determining the boundaries between ASD and typical individuals, as well as those with other neurodevelopmental conditions, remains an issue of which the importance is growing with the increase in ASD prevalence. We identified four clinical contexts associated with a questionable, poorly justified, or unhelpful ASD diagnosis: (1) those in which diagnostic instruments raise uncertainties, (2) in the context of a subclinical presentation, (3) when early autistic signs tend to fade away during development, and (4) when comorbidities are prominent. We argue that in certain cases, a diagnosis of ASD may not be the most suitable, timely, or helpful medical act and provide recommendations for clinical practice when facing such situations.
“自闭症谱系障碍”(ASD)这一概念及其当前的诊断标准导致越来越多的异质化、非典型个体被归入这一范畴。这种基于自闭症风险相关常见遗传变异多态性临床表现的宽泛分类,对某些个体可能是有益的。然而,确定 ASD 与典型个体以及其他神经发育障碍个体之间的界限仍然是一个问题,随着 ASD 患病率的增加,这个问题的重要性也在不断增加。我们确定了四个与 ASD 诊断存在疑问、依据不足或无益的临床情况:(1)诊断工具存在不确定性的情况;(2)亚临床表现的情况;(3)自闭症早期迹象在发育过程中逐渐消失的情况;(4)共病情况显著的情况。我们认为,在某些情况下,ASD 的诊断可能不是最合适、最及时或最有帮助的医疗行为,并在面对这些情况时为临床实践提供了建议。