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自闭症谱系障碍的诊断程序:系统文献回顾。

Diagnostic procedures in autism spectrum disorders: a systematic literature review.

机构信息

School of Occupational Therapy and Social Work, Faculty of Health Sciences, Curtin Health Innovation Research Institute, Curtin University, GPO Box U1987, Perth, WA 6845, Australia.

出版信息

Eur Child Adolesc Psychiatry. 2013 Jun;22(6):329-40. doi: 10.1007/s00787-013-0375-0. Epub 2013 Jan 16.

DOI:10.1007/s00787-013-0375-0
PMID:23322184
Abstract

At present, 'gold standard' diagnosis of autism spectrum disorders (ASD) is a lengthy and time consuming process that requires suitably qualified multi-disciplinary team (MDT) personnel to assess behavioural, historical, and parent-report information to determine a diagnosis. A number of different tools have been developed to assist in determination. To optimise the diagnostic procedures, the best diagnostic instruments need to be identified. This study is a systematic review addressing the accuracy, reliability, validity and utility of reported diagnostic tools and assessments. To be included in this review, studies must have (1) identified an ASD diagnostic tool; (2) investigated either diagnostic procedure or the tools or personnel required; (3) be presented in English; (4) be conducted in the Western world; (5) be one of three types of studies [adapted from Samtani et al. in Cochrane Database Syst Rev 3:1-13, 2011], viz. (a) cohort studies or cross-sectional studies, (b) randomised studies of test accuracy, (c) case-control studies. MEDLINE, PsychINFO, Scopus, EMBASE, and Cochrane Library databases were scrutinised for relevant literature published from 2000 inclusive on 20th January 2012. In total, 68 articles were included. 17 tools were assessed. However, many lacked an evidence base of high quality-independent studies. The Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) stood out with the largest evidence base and highest sensitivity and specificity. When the ADI-R and ADOS were used in combination they revealed levels of accuracy very similar to the correct classification rates for the current 'gold standard' diagnostic procedure viz. 80.8% for ASD. There is scope for future studies on the use of the ADI-R and ADOS in combination.

摘要

目前,自闭症谱系障碍(ASD)的“金标准”诊断是一个冗长且耗时的过程,需要由合格的多学科团队(MDT)人员评估行为、病史和家长报告信息,以确定诊断。已经开发了许多不同的工具来协助确定诊断。为了优化诊断程序,需要确定最佳的诊断工具。本研究是一项系统评价,旨在评估已报道的诊断工具和评估方法的准确性、可靠性、有效性和实用性。要纳入本综述,研究必须满足以下条件:(1) 确定了 ASD 诊断工具;(2) 调查了诊断程序或所需的工具或人员;(3) 以英文呈现;(4) 在西方国家进行;(5) 属于以下三种类型的研究之一[改编自 Samtani 等人在 Cochrane Database Syst Rev 3:1-13, 2011],即(a) 队列研究或横断面研究,(b) 测试准确性的随机研究,(c) 病例对照研究。从 2000 年开始,对 MEDLINE、PsychINFO、Scopus、EMBASE 和 Cochrane Library 数据库进行了详细审查,以查找 2012 年 1 月 20 日之前发表的相关文献。共纳入 68 篇文章。评估了 17 种工具。然而,许多工具缺乏高质量的独立研究证据。孤独症诊断访谈修订版(ADI-R)和孤独症诊断观察量表(ADOS)的证据基础最大,灵敏度和特异性最高。当 ADI-R 和 ADOS 联合使用时,其准确性与当前“金标准”诊断程序的正确分类率非常相似,即 80.8%用于 ASD。未来有必要对 ADI-R 和 ADOS 联合使用进行研究。

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J Child Psychol Psychiatry. 2012 Feb;53(2):143-51. doi: 10.1111/j.1469-7610.2011.02458.x. Epub 2011 Sep 1.
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Longitudinal changes in Scores on the Autism Diagnostic Interview--Revised (ADI-R) in pre-school children with autism: Implications for diagnostic classification and symptom stability.自闭症诊断访谈修订版(ADI-R)在自闭症学前儿童中的评分的纵向变化:对诊断分类和症状稳定性的影响。
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一种基于深度学习的集成方法,用于利用面部图像诊断自闭症谱系障碍。
PLoS One. 2025 Apr 22;20(4):e0321697. doi: 10.1371/journal.pone.0321697. eCollection 2025.
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DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4-17 years.基于《精神疾病诊断与统计手册》第五版的4至17岁儿童自闭症诊断访谈修订版算法。
J Child Psychol Psychiatry. 2025 Sep;66(9):1403-1413. doi: 10.1111/jcpp.14159. Epub 2025 Mar 18.
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Turk Arch Pediatr. 2025 Mar 3;60(2):126-140. doi: 10.5152/TurkArchPediatr.2025.24183.
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Semi-Automated Multi-Label Classification of Autistic Mannerisms by Machine Learning on Post Hoc Skeletal Tracking.基于事后骨骼跟踪的机器学习对自闭症行为的半自动多标签分类
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