Departments of Pediatrics.
Biostatistics and Health Data Science, Indiana University School of Medicine, Indianapolis, Indiana.
Pediatrics. 2023 Aug 1;152(2). doi: 10.1542/peds.2023-061188.
To evaluate the diagnostic accuracy of the Early Autism Evaluation (EAE) Hub system, a statewide network that provides specialized training and collaborative support to community primary care providers in the diagnosis of young children at risk for autism spectrum disorder (ASD).
EAE Hub clinicians referred children, aged 14 to 48 months, to this prospective diagnostic study for blinded follow-up expert evaluation including assessment of developmental level, adaptive behavior, and ASD symptom severity. The primary outcome was agreement on categorical ASD diagnosis between EAE Hub clinician (index diagnosis) and ASD expert (reference standard).
Among 126 children (mean age: 2.6 years; 77% male; 14% Latinx; 66% non-Latinx white), 82% (n = 103) had consistent ASD outcomes between the index and reference evaluation. Sensitivity was 81.5%, specificity was 82.4%, positive predictive value was 92.6%, and negative predictive value was 62.2%. There was no difference in accuracy by EAE Hub clinician or site. Across measures of development, there were significant differences between true positive and false negative (FN) cases (all Ps < .001; Cohen's d = 1.1-1.4), with true positive cases evidencing greater impairment.
Community-based primary care clinicians who receive specialty training can make accurate ASD diagnoses in most cases. Diagnostic disagreements were predominately FN cases in which EAE Hub clinicians had difficulty differentiating ASD and global developmental delay. FN cases were associated with a differential diagnostic and phenotypic profile. This research has significant implications for the development of future population health solutions that address ASD diagnostic delays.
评估早期自闭症评估（EAE）中心系统的诊断准确性，该系统是一个全州范围的网络，为社区初级保健提供者提供专门的培训和协作支持，以诊断有自闭症谱系障碍（ASD）风险的幼儿。
EAE 中心的临床医生将 14 至 48 个月大的儿童转诊到这项前瞻性诊断研究中，进行盲法随访专家评估，包括发育水平、适应行为和 ASD 症状严重程度的评估。主要结局是 EAE 中心临床医生（索引诊断）和 ASD 专家（参考标准）之间在 ASD 分类诊断上的一致性。
在 126 名儿童（平均年龄：2.6 岁；77%为男性；14%为拉丁裔；66%为非拉丁裔白人）中，82%（n=103）的索引和参考评估结果在 ASD 方面一致。敏感性为 81.5%，特异性为 82.4%，阳性预测值为 92.6%，阴性预测值为 62.2%。EAE 中心临床医生或地点对准确性没有影响。在所有发育测量中，真阳性和假阴性（FN）病例之间存在显著差异（所有 P<0.001；Cohen's d=1.1-1.4），真阳性病例表现出更大的损伤。
接受专业培训的社区初级保健临床医生可以在大多数情况下做出准确的 ASD 诊断。诊断分歧主要是 FN 病例，EAE 中心的临床医生难以区分 ASD 和全面发育迟缓。FN 病例与鉴别诊断和表型特征相关。这项研究对开发解决 ASD 诊断延迟的未来人群健康解决方案具有重要意义。
