The evolution of autism diagnosis, from its discovery to its current delineation using standardized instruments, has been paralleled by a steady increase in its prevalence and heterogeneity. In clinical settings, the diagnosis of autism is now too vague to specify the type of support required by the concerned individuals. In research, the inclusion of individuals categorically defined by over-inclusive, polythetic criteria in autism cohorts results in a population whose heterogeneity runs contrary to the advancement of scientific progress. Investigating individuals sharing only a trivial resemblance produces a large-scale type-2 error (not finding differences between autistic and dominant population) rather than detecting mechanistic differences to explain their phenotypic divergences. The dimensional approach of autism proposed to cure the disease of its categorical diagnosis is plagued by the arbitrariness of the dimensions under study. Here, we argue that an emphasis on the reliability rather than specificity of diagnostic criteria and the misuse of diagnostic instruments, which ignore the recognition of a prototype, leads to confound autism with the entire range of neurodevelopmental conditions and personality variants. We propose centering research on cohorts in which individuals are selected based on their expert judged prototypicality to advance the theoretical and practical pervasive issues pertaining to autism diagnostic thresholds. Reversing the current research strategy by giving more weight to specificity than reliability should increase our ability to discover the mechanisms of autism.

中文翻译：

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需要彻底改变我们的自闭症研究策略：回到原型

自闭症诊断的演变，从发现到目前使用标准化仪器的描述，伴随着其患病率和异质性的稳步增加。在临床环境中，自闭症的诊断现在过于模糊，无法具体说明相关个人所需的支持类型。在研究中，在自闭症队列中纳入由过度包容、多元标准分类定义的个体会导致人群的异质性与科学进步的进步背道而驰。调查仅具有微不足道的相似之处的个体会产生大规模的 2 型错误（未发现自闭症和显性群体之间的差异），而不是检测机制差异来解释他们的表型差异。为治愈其分类诊断疾病而提出的自闭症维度方法受到所研究维度的任意性的困扰。在这里，我们认为，强调诊断标准的可靠性而不是特异性，以及诊断工具的滥用，忽视了原型的识别，导致自闭症与整个神经发育状况和人格变异的范围混淆。我们建议以队列研究为中心，根据专家判断的原型选择个人，以推进与自闭症诊断阈值有关的理论和实践普遍问题。通过更重视特异性而不是可靠性来扭转当前的研究策略，应该会提高我们发现自闭症机制的能力。