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“明确型”表现作为自闭症谱系障碍诊断决策中的一种新型研究结构和要素。

"Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder.

作者信息

de Marchena Ashley, Miller Judith

机构信息

Center for Autism Research the Children's Hospital of Philadelphia, 3535 Market Street Suite 860, Philadelphia, PA, 19104.

Department of Behavioral and Social Sciences, University of the Sciences, Philadelphia.

出版信息

Autism Res. 2017 Apr;10(4):653-662. doi: 10.1002/aur.1706. Epub 2016 Oct 21.

Abstract

Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon. Respondents completed a 13-item questionnaire about frank ASD, which was analyzed using a mixed-methods approach. Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation. Respondents reported the most highly specific behaviors associated with frank presentations were a general sense of impaired reciprocity, quality of eye contact, atypical vocal prosody, presence of motor mannerisms, and atypical gait or posture. In general, respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation. Although unstudied empirically, "frank" presentations of ASD are familiar to diagnosing clinicians, and appear to be based on behaviors both central to ASD diagnostic criteria (e.g., impaired reciprocity), and absent from diagnostic criteria (e.g., atypical gait or posture). We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 653-662. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

摘要

许多患有自闭症谱系障碍(ASD)的个体具有一种独特的行为表现,在短时间内即可识别,我们将这种现象称为“明显的”ASD。这种现象已经在非正式场合讨论了数十年,或许被称为“典型的”ASD;然而,并不存在单一的“典型”表现,而且典型自闭症似乎与功能水平并无对应关系。因此,“明显的”或“典型的”自闭症都未作为一种研究结构被明确界定或研究。为了启动对明显ASD的实证研究,我们对151名来自诊断ASD的一系列学科的临床医生就这一现象进行了调查。受访者完成了一份关于明显ASD的13项问卷,并采用混合方法进行分析。97%的受访者熟悉这一现象。受访者估计40%的ASD人群有明显表现。受访者报告与明显表现相关的最具特异性的行为是普遍的互动受损感、眼神交流质量、非典型的语音韵律、存在运动习惯以及非典型的步态或姿势。总体而言,受访者报告能迅速察觉到明显特征,大多数人在互动或观察的前十分钟内就形成了印象。尽管未经实证研究,但ASD的“明显”表现为诊断临床医生所熟知,并且似乎基于ASD诊断标准中的核心行为(例如互动受损)以及诊断标准中未提及的行为(例如非典型的步态或姿势)。我们在ASD诊断决策和行为表型分析的背景下讨论了这些发现。《自闭症研究》2016年,。©2016国际自闭症研究协会,威利期刊公司。《自闭症研究》2017年,10: 653 - 662。©2016国际自闭症研究协会,威利期刊公司。

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