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本文引用的文献

1
A radical change in our autism research strategy is needed: Back to prototypes.我们的自闭症研究策略需要发生根本性的变化:回归原型。
Autism Res. 2021 Oct;14(10):2213-2220. doi: 10.1002/aur.2494. Epub 2021 Jun 2.
2
Widening Disease Definitions: What Can Physicians Do?不断扩大的疾病定义:医生能做什么?
Am Fam Physician. 2021 Feb 1;103(3):138-140.
3
Camouflage and autism.伪装与自闭症。
J Child Psychol Psychiatry. 2020 Jul;61(7):735-738. doi: 10.1111/jcpp.13296.
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Sensory hypersensitivity in Tourette syndrome: A review.妥瑞氏症中的感觉过敏:综述。
Brain Dev. 2020 Oct;42(9):627-638. doi: 10.1016/j.braindev.2020.06.003. Epub 2020 Jun 26.
5
Atypical sensory profiles as core features of adult ADHD, irrespective of autistic symptoms.非典型感觉特征作为成人注意力缺陷多动障碍的核心特征,与自闭症症状无关。
Eur Psychiatry. 2017 Jun;43:51-57. doi: 10.1016/j.eurpsy.2017.02.481. Epub 2017 Feb 21.
6
Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.识别与自闭症谱系障碍基因异常相关的发育和行为标志物。
Am J Psychiatry. 2017 Jun 1;174(6):576-585. doi: 10.1176/appi.ajp.2017.16101115. Epub 2017 Mar 3.
7
Autism phenotype versus registered diagnosis in Swedish children: prevalence trends over 10 years in general population samples.瑞典儿童的自闭症表型与登记诊断情况:10年间普通人群样本中的患病率趋势
BMJ. 2015 Apr 28;350:h1961. doi: 10.1136/bmj.h1961.
8
The proportion of true cases of autism is not changing.
BMJ. 2014 Jun 11;348:g3774. doi: 10.1136/bmj.g3774.
9
Patterns of developmental trajectories in toddlers with autism spectrum disorder.自闭症谱系障碍幼儿发育轨迹模式。
J Consult Clin Psychol. 2012 Jun;80(3):477-89. doi: 10.1037/a0027214. Epub 2012 Apr 16.
10
The assessment of schizotypal features over two points in time.对分裂型特征在两个时间点上的评估。
Schizophr Res. 1991 Dec;6(1):75-85. doi: 10.1016/0920-9964(91)90023-k.

临床情况下自闭症的诊断存在争议:分析与建议。

Clinical Situations in Which the Diagnosis of Autism is Debatable: An Analysis and Recommendations.

机构信息

Center for Autism Spectrum Disorders, SUSA Foundation, 54521University of Mons, Belgium.

Faculty of Medicine, Psychiatry and Addictology Department, University of Montreal, Montreal, Quebec, Canada.

出版信息

Can J Psychiatry. 2022 May;67(5):331-335. doi: 10.1177/07067437211041469. Epub 2021 Sep 6.

DOI:10.1177/07067437211041469
PMID:34482753
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9065488/
Abstract

The "autism spectrum disorder" (ASD) construct and its current diagnostic criteria have led to the inclusion of increasingly heterogeneous and decreasingly atypical individuals under its definition. This broad category, based on the polymorphic clinical expression of common genetic variants underpinning the risk of autism, is likely beneficial for certain individuals. However, determining the boundaries between ASD and typical individuals, as well as those with other neurodevelopmental conditions, remains an issue of which the importance is growing with the increase in ASD prevalence. We identified four clinical contexts associated with a questionable, poorly justified, or unhelpful ASD diagnosis: (1) those in which diagnostic instruments raise uncertainties, (2) in the context of a subclinical presentation, (3) when early autistic signs tend to fade away during development, and (4) when comorbidities are prominent. We argue that in certain cases, a diagnosis of ASD may not be the most suitable, timely, or helpful medical act and provide recommendations for clinical practice when facing such situations.

摘要

“自闭症谱系障碍”(ASD)这一概念及其当前的诊断标准导致越来越多的异质化、非典型个体被归入这一范畴。这种基于自闭症风险相关常见遗传变异多态性临床表现的宽泛分类,对某些个体可能是有益的。然而,确定 ASD 与典型个体以及其他神经发育障碍个体之间的界限仍然是一个问题,随着 ASD 患病率的增加,这个问题的重要性也在不断增加。我们确定了四个与 ASD 诊断存在疑问、依据不足或无益的临床情况:(1)诊断工具存在不确定性的情况;(2)亚临床表现的情况;(3)自闭症早期迹象在发育过程中逐渐消失的情况;(4)共病情况显著的情况。我们认为,在某些情况下,ASD 的诊断可能不是最合适、最及时或最有帮助的医疗行为,并在面对这些情况时为临床实践提供了建议。