Klaiman Cheryl, White Stormi, Richardson Shana, McQueen Emma, Walum Hasse, Aoki Christa, Smith Christopher, Minjarez Mendy, Bernier Raphael, Pedapati Ernest, Bishop Somer, Ence Whitney, Wainer Allison, Moriuchi Jennifer, Tay Sew-Wah, Deng Yiming, Jones Warren, Gillespie Scott, Klin Ami
Marcus Autism Center, Children's Healthcare of Atlanta, Atlanta, GA, USA.
Division of Autism & Related Disorders, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
J Autism Dev Disord. 2024 Feb;54(2):393-408. doi: 10.1007/s10803-022-05812-8. Epub 2022 Nov 17.
Differential diagnosis of young children with suspected autism spectrum disorder (ASD) is challenging, and clinician uncertainty about a child's diagnosis may contribute to misdiagnosis and subsequent delays in access to early treatment. The current study was designed to replicate and expand a recent report in this Journal (McDonnell et al. in J Autism Dev Disord 49:1391-1401, https://doi.org/10.1080/15374416.2020.1823850 , 2019), in which only 60% of diagnoses were made with complete certainty by clinicians evaluating 478 toddlers and preschool children referred for possible ASD to specialized clinics. In this study, secondary analyses were performed on diagnostic, demographic and clinical data for 496 16-30-month-old children who were consecutive referrals to a 6-site clinical trial executed by specialized centers with experienced clinicians following best-practice procedures for the diagnosis of ASD. Overall, 70.2% of diagnoses were made with complete certainty. The most important factor associated with clinician uncertainty was mid-level autism-related symptomatology. Mid-level verbal age equivalents were also associated with clinician uncertainty, but measures of symptomatology were stronger predictors. None of the socio-demographic variables, including sex of the child, was significantly associated with clinician certainty. Close to one third of early diagnoses of ASD are made with a degree of uncertainty. The delineation of specific ranges on the ADOS-2 most likely to result in clinician uncertainty identified in this study may provide an opportunity to reduce random subjectivity in diagnostic decision-making via calibration of young-child diagnostic thresholds based on later-age longitudinal diagnostic outcome data, and via standardization of decision-making in regard to clinical scenarios frequently encountered by clinicians.
对疑似患有自闭症谱系障碍(ASD)的幼儿进行鉴别诊断具有挑战性,临床医生对儿童诊断的不确定性可能导致误诊以及随后在获得早期治疗方面的延迟。本研究旨在重复并扩展该期刊最近的一篇报告(麦克唐奈等人,《自闭症与发育障碍杂志》49:1391 - 1401,https://doi.org/10.1080/15374416.2020.1823850,2019),在该报告中,评估转介到专科诊所的478名学步儿童和学龄前儿童的临床医生仅60%能完全确定地做出诊断。在本研究中,对496名16至30个月大儿童的诊断、人口统计学和临床数据进行了二次分析,这些儿童是连续被转介到由专业中心开展的一项6中心临床试验中的,该试验由经验丰富的临床医生按照诊断ASD的最佳实践程序进行。总体而言,70.2%的诊断是完全确定的。与临床医生不确定性相关的最重要因素是中等程度的自闭症相关症状。中等程度的语言年龄当量也与临床医生不确定性相关,但症状测量是更强的预测因素。包括儿童性别在内的社会人口统计学变量均与临床医生的确定性无显著关联。近三分之一的ASD早期诊断存在一定程度的不确定性。本研究中确定的ADOS - 2上最有可能导致临床医生不确定性的特定范围的划定,可能提供一个机会,通过基于大龄儿童纵向诊断结果数据校准幼儿诊断阈值,以及通过规范临床医生经常遇到的临床场景中的决策制定,来减少诊断决策中的随机主观性。