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)
- 用伍德灯进行皮肤检查
- 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
12 月龄至 5 岁（或同等发育年龄）的学龄前儿童
5-18 岁（或同等发育年龄）的学龄儿童
成人
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
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
Robert Findling, MD, MBA
Chair
Department of Psychiatry
Virginia Commonwealth University
Richmond
VA
利益声明
RF declares that he has acted as a consultant for, and/or has received honoraria or research support from the following: Acadia, Adamas, Aevi, Afecta, Akili, Alkermes, Allergan, American Academy of Child & Adolescent Psychiatry, American Psychiatric Press, Arbor, Axsome, Daiichi-Sankyo, Emelex, Gedeon Richter, Genentech, Idorsia, Intra-Cellular Therapies, Kempharm, Luminopia, Lundbeck, MedAvante-ProPhase, Merck, MJH Life Sciences, NIH, Neurim, Otsuka, PaxMedica, PCORI, Pfizer, Physicians Postgraduate Press, Q BioMed, Receptor Life Sciences, Roche, Sage, Signant Health, Sunovion, Supernus Pharmaceuticals, Syneos, Syneurx, Takeda, Teva, Tris, and Validus.
Michael Absoud, FRCPCH, PhD
Consultant in Paediatric Neurodisability
Joint Head of Service
Children’s Neurosciences
Reader in Paediatric Neurosciences
Evelina London Children’s Hospital
Department of Women and Children’s Health
King’s College
London
UK
利益声明
MA declares that he has no competing interests.
Grant Stewart, BA Hons
Consumer Health and Multimedia Manager
British Medical Journal (BMJ)
London
UK
利益声明
GS declares that he is an employee of BMJ.
鉴别诊断
- 发育障碍/学习困难/智力障碍的其他病因，或其他神经发育精神障碍
- 注意缺陷多动障碍 (ADHD)
- 社会（语用）交流障碍
更多 鉴别诊断指南
- 精神障碍诊断与统计手册第 5 版修订版（DSM-5-TR）
- 19 岁以下人群自闭症谱系障碍：支持和管理
更多 指南患者教育信息
孤独症谱系障碍：家长需知 - 何为孤独症谱系障碍？
孤独症谱系障碍：家长需知 - 如何有效治疗？
更多 患者教育信息
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