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参与研究的儿童中与确诊和未确诊自闭症谱系障碍诊断相关的因素

Factors Associated with Confirmed and Unconfirmed Autism Spectrum Disorder Diagnosis in Children Volunteering for Research.

作者信息

Duvall Susanne W, Greene Rachel K, Phelps Randi, Rutter Tara M, Markwardt Sheila, Grieser Painter Julia, Cordova Michaela, Calame Beth, Doyle Olivia, Nigg Joel T, Fombonne Eric, Fair Damien

机构信息

Departments of Pediatrics and Psychiatry, Institute on Development and Disability, Center for Development and Child Rehabilitation, Oregon Health & Science University, 707 SW Gaines St, Portland, OR, 98239, USA.

Departments of Pediatrics, Institute on Development and Disability, Center for Development and Child Rehabilitation, Oregon Health & Science University, 707 SW Gaines St, Portland, OR, USA.

出版信息

J Autism Dev Disord. 2025 May;55(5):1660-1672. doi: 10.1007/s10803-024-06329-y. Epub 2024 Apr 12.

Abstract

PURPOSE

Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent.

METHODS

We describe 232 children (M = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed.

RESULTS

47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups.

CONCLUSION

Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.

摘要

目的

自闭症谱系障碍(ASD)的诊断准确性对于追踪和描述ASD以及指导个体层面的适当干预至关重要。然而,ASD的诊断不足、过度诊断和误诊仍然很普遍。

方法

我们描述了232名社区诊断为ASD的儿童(平均年龄M = 10.71岁;19%为女性),他们被转介参与研究。在纳入研究之前,采用了广泛的评估程序来确认ASD诊断。随后,样本被分为两组,一组是确诊为ASD的(ASD+),另一组是未确诊/诊断不准确的(ASD-)。进一步分析区分这两组的临床特征。

结果

根据专家共识,47%的社区诊断为ASD的儿童不符合ASD标准。ASD+组和ASD-组在年龄、性别、种族或种族构成方面没有差异。与ASD-组相比,ASD+组更有可能有早期语言发育迟缓的病史;然而,照顾者报告两组在当前功能性语言使用方面没有差异。ASD+组在孤独症诊断访谈修订版(ADI-R)评分、孤独症诊断观察量表第二版(ADOS-2)算法综合评分和校准严重程度评分(CSS)上得分显著更高。ASD-组获得了更高的估计智商分数和更高的精神疾病发生率,包括焦虑症、破坏性行为和情绪障碍诊断。总体而言,照顾者问卷(社会反应量表第二版[SRS-2]、儿童沟通 Checklist-2[CCC-2])无法区分两组。

结论

ASD-组中报告的精神疾病增加表明精神疾病复杂性可能导致社区对ASD的误诊和可能的过度诊断。临床医生介导的工具(ADI-R、ADOS-2)能够区分ASD+组和ASD-组,而照顾者报告的问卷则不能。

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