Hus Yvette, Segal Osnat
Cyprus University of Technology, Department of Rehabilitation Sciences, Theralab Research Collaborator, Limassol, Cyprus.
Tel Aviv University, Sackler Faculty of Medicine, Department of Communication Disorders, Tel-Aviv, Israel.
Neuropsychiatr Dis Treat. 2021 Dec 3;17:3509-3529. doi: 10.2147/NDT.S282569. eCollection 2021.
This comprehensive thematic review aims to highlight and familiarize readers with the challenges and pitfalls encountered in differential diagnosis of autism spectrum disorders (ASD) in children to facilitate the process of accurate identification by stakeholders. Accordingly, articles that best answer our questions and highlight our concerns were chosen from well-established publishers with prime peer reviewed journals. Included are studies showing alternate views of the issues so as to point readers to other possibilities. ASD, a complex dynamic biological-neurodevelopmental disorder, is underscored by its heterogeneous symptomology, severity, and phenotypes - all characterized by social communication deficits and presence of restricted interests and repetitive behaviours (RRBs), the core symptoms in ASD. Language and intellectual capacities do not form ASD core symptoms although vary considerably. Accurate identification is challenging as ASD is often enmeshed with other neurodevelopmental disorders, and medical comorbidities, a situation now recognized as the rule rather than the exception in child psychiatry and developmental medicine. ASD is a disorder with varying performance and severity of symptoms over time, including unexpected loss of early skills, and lost diagnosis in some children following treatment. The review reiterates the urgency in accurate diagnosis in face of the rapid rise in ASD prevalence globally, and risk-increase in delayed or denied treatment with undesirable life-long consequences for most of the affected children. In addition, a call for change is advised to circumvent the ethical dilemma posed by the present "deficit model" in ASD diagnosis. Here, ASD prevalence is presented first, followed by emphasis on importance of accurate early diagnosis, and challenges in its accomplishment due to flaws in diagnostic instruments and other contributing factors. Next follow the required criteria for accurate identification, and its difficulties attributed to comorbid conditions, gender differences, and socio-economic and cultural influences. The conclusion includes future directions and a take away message.
这篇全面的专题综述旨在向读者强调并介绍在儿童自闭症谱系障碍（ASD）鉴别诊断中遇到的挑战和陷阱，以促进相关人员进行准确识别。因此，我们从具有一流同行评审期刊的知名出版商中挑选了最能回答我们问题并突出我们所关注问题的文章。其中包括展示该问题不同观点的研究，以便为读者指出其他可能性。ASD是一种复杂的动态生物神经发育障碍，其症状、严重程度和表型具有异质性，所有这些都以社交沟通缺陷以及存在狭隘兴趣和重复行为（RRBs）为特征，这些是ASD的核心症状。语言和智力能力虽差异很大，但并非ASD的核心症状。由于ASD常与其他神经发育障碍以及医学合并症交织在一起，准确识别具有挑战性，这种情况在儿童精神病学和发育医学中现在已被视为常态而非例外。ASD是一种症状表现和严重程度随时间变化的疾病，包括早期技能意外丧失，以及一些儿童在治疗后诊断消失。面对全球ASD患病率的迅速上升，以及大多数受影响儿童因治疗延迟或被拒绝而导致不良终身后果的风险增加，该综述重申了准确诊断的紧迫性。此外，建议进行变革以规避当前ASD诊断中“缺陷模型”所带来的伦理困境。这里首先介绍了ASD的患病率，接着强调了准确早期诊断的重要性，以及由于诊断工具缺陷和其他影响因素在实现准确诊断方面所面临的挑战。接下来是准确识别所需的标准，以及由于合并症、性别差异、社会经济和文化影响而导致的困难。结论部分包括未来方向和重要信息。
