最后审阅: 18 九月 2021
最后更新: 19 五月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 语言发育迟缓或退化
  • 语言和非言语交流障碍
  • 社交障碍
  • 重复、僵硬、或刻板的兴趣、行为、或活动

其他诊断因素

  • 婴儿时期性格平和或非常烦躁
  • 喂食困难
  • 异常姿态
  • 机械动作
  • 感觉兴趣或困难
  • 其他神经发育精神障碍的证据
  • 巨头症

危险因素

  • 男性
  • 阳性家族史
  • 妊娠期丙戊酸暴露
  • 遗传变异体
  • 核型(染色体)异常
  • 父母年龄增长
  • 早产

诊断性检查

首要检查

  • ASD 筛查试验
  • 儿童孤独症评定量表 (CARS)
  • 修订版婴幼儿孤独症筛查量表 (M-CHAT)
  • 儿童孤独症筛查测验表 (CAST)

需考虑的检查

  • 诊断问卷(如孤独症诊断访谈量表 [ADI-R];发育标准及诊断的访谈[3DI];社交和沟通障碍诊断访谈 [DISCO])
  • 孤独症诊断观察量表 (ADOS)
  • 伍德灯皮肤检查
  • 基因检测
  • 脑电图 (EEG)
  • 颅脑 MRI 扫描
  • 听力学
  • 遗传性疾病的特定测试(例如,MECP2 缺失)

治疗流程

撰稿人

作者

Jeremy Parr, MB ChB, MRCPCH, MD

Professor/Honorary Consultant

Population Health Sciences Institute

Newcastle University

Newcastle upon Tyne

UK

利益声明

JP is a director and shareholder in XRTherapeutics, which offers virtual reality intervention for situation specific anxiety and phobia for people with autism and other conditions. He is named on a patent owned by Third Eye Neurotech and would receive royalties from this, through Newcastle University. JP previously chaired Research Autism's Scientific Advisory Committee; was an expert advisor to the National Autism Project; sits on the Autistica Discover Steering Committee; currently chairs the Autistica Physical Health and Ageing Research Group; and currently chairs the British Academy of Childhood Disability Strategic Research Group. He has not received payment for any of this activity. JP works for the UK NHS and sees children and young adults on the autism spectrum to give advice about diagnosis and treatments/interventions. JP runs research programmes focused on autism from Newcastle University, and has received grants and published research papers in that context. JP is an author of a number of references cited in this topic.

Marc Woodbury-Smith, MB ChB, PhD, MRCPsych
Marc Woodbury-Smith

Clinical Senior Lecturer/Honorary Consultant

Biosciences Institute

Newcastle University

Newcastle upon Tyne

UK

Associate Investigator

Centre for Applied Genomics

Hospital for Sick Children

Toronto

Canada

利益声明

MWS has received consultation fees from Servier Pharmaceuticals in connection with a clinical trial on which he was national co-ordinator (2018-2019). MWS is the co-author of references cited in this topic.

同行评议者

Michael Craig, MBBS,​ BSc(Hons), PhD, FRCOG, FRCPsych

Senior Lecturer & Honorary Consultant

Department of Forensic and Neurodevelopmental Sciences

Institute of Psychiatry

De Crespigny Park

London

UK

利益声明

MC declares that he has no competing interests.

Kevin Sanders, MD

Associate Clinical Professor of Psychiatry and Pediatrics

Vanderbilt Department of Psychiatry

Nashville

TN

利益声明

KS declares that he has no competing interests.

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