自闭症的诊断 Diagnosis of Autism

邓文龙

自闭症的诊断 Diagnosis of Autism

自闭症的诊断 ： 自闭症（即自闭症谱系障碍，ASD）的诊断主要依赖于行为观察和临床评估，没有单一的实验室或影像学检查可以确诊。
1. 主要诊断标准
目前，国际上主要使用以下两大诊断标准：
• 《精神障碍诊断与统计手册》第五版（DSM-5, 2013）——美国精神医学学会（APA）制定
• 《国际疾病分类》第十一版（ICD-11, 2022）——世界卫生组织（WHO）制定
DSM-5 诊断标准
DSM-5 将自闭症定义为神经发育障碍，主要依据两大核心症状：
1. 社会沟通和社交互动障碍（必须符合以下三项）：
• 社交-情感交流困难（如缺乏眼神交流、对社交兴趣低）
• 非语言交流障碍（如不理解手势、面部表情）
• 难以发展和维持人际关系（如不愿与同龄人互动）
2. 刻板行为和兴趣狭窄（符合以下至少两项）：
• 固定、重复的行为（如重复性语言、摆手、旋转物体）
• 坚持相同的日常模式，抗拒变化（如严格按固定路线走路）
• 对特殊兴趣的强烈专注（如迷恋特定数字、日期）
• 感觉异常（如对声音、光线、触摸过度敏感或迟钝）
此外，症状必须在儿童早期（通常3岁前）出现，并显著影响生活功能。
2. 诊断流程
（1）早期筛查
• 家长观察：通常由家长或老师发现儿童在语言、社交、行为方面的异常。
• 常用筛查工具（适用于幼儿）：
• M-CHAT-R/F（修订版自闭症筛查问卷）：16-30个月婴幼儿
• ADOS-2（自闭症诊断观察量表）：通过游戏、互动观察儿童行为
• CARS（儿童自闭症评定量表）：适用于2岁以上儿童
• SCQ（社会交往问卷）：适用于4岁以上儿童
（2）临床诊断
由儿童精神科医生、心理学家、发育行为儿科医生等进行正式评估，主要方法包括：
• 病史采集：家长访谈、成长记录
• 行为观察：如社交互动、语言能力、刻板行为
• 认知和语言评估：如智力测试（WISC）、语言发育测试
（3）辅助检查（排除其他疾病）
自闭症没有特定的实验室或影像学诊断，但可以通过以下检查排除其他可能的神经系统疾病：
• 基因检测：如Fragile X综合征、Rett综合征等相关遗传病
• 脑电图（EEG）：排除癫痫相关问题
• 核磁共振（MRI）：检查脑部结构异常
• 代谢筛查：排除先天性代谢异常
3. 诊断挑战
• 个体差异大：自闭症患者的症状和严重程度差别很大。
• 共病（合并症）多：如注意力缺陷多动障碍（ADHD）、焦虑、智力障碍等，可能影响诊断。
• 轻度病例容易漏诊：高功能自闭症（如阿斯伯格综合征）可能因智力正常、语言能力较好而被忽视。
4. 成人自闭症诊断
很多高功能自闭症（如阿斯伯格）患者成年后才意识到自己的社交障碍，此时可以使用：
• AQ（自闭症商数量表）：适用于成人自评
• RAADS-R（成人自闭症评估量表）
• ADOS-2（成人版）
总结
自闭症的诊断需要综合考虑行为表现、病史、量表评估，并由专业医生进行全面评估。尽早筛查、尽早干预对于改善预后至关重要。
( Software translation )     Diagnosis of Autism : The diagnosis of autism spectrum disorder (ASD) mainly relies on behavioral observation and clinical evaluation, and there is no single laboratory or imaging examination to confirm the diagnosis.
1. Main diagnostic criteria
At present, the following two diagnostic criteria are mainly used internationally:
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5, 2013) - Developed by the American Psychiatric Association (APA)
The 11th edition of the International Classification of Diseases (ICD-11, 2022) was developed by the World Health Organization (WHO)
DSM-5 diagnostic criteria
DSM-5 defines autism as a neurodevelopmental disorder, primarily based on two core symptoms:
1. Social communication and interaction barriers (must meet the following three criteria):
• Social emotional communication difficulties (such as lack of eye contact, low interest in socializing)
• Nonverbal communication barriers (such as not understanding gestures, facial expressions)
• Difficulty developing and maintaining interpersonal relationships (such as unwillingness to interact with peers)
2. Stereotypical behavior and narrow interests (meeting at least two of the following criteria):
Fixed and repetitive behaviors (such as repetitive language, waving hands, rotating objects)
Adhere to the same daily routine and resist changes (such as strictly following a fixed route while walking)
Strong focus on special interests (such as being obsessed with specific numbers, dates)
• Abnormal sensation (such as excessive sensitivity or dullness to sound, light, or touch)
In addition, symptoms must appear in early childhood (usually before the age of 3) and significantly affect daily functioning.
2. Diagnostic process
(1) Early screening
• Parental observation: It is usually discovered by parents or teachers that children have abnormalities in language, social skills, and behavior.
• Common screening tools (applicable to young children):
M-CHAT-R/F (Revised Autism Screening Questionnaire): Infants and young children aged 16-30 months
ADOS-2 (Autism Diagnostic Observation Scale): Observing children's behavior through games and interactions
CARS (Childhood Autism Rating Scale): Suitable for children aged 2 and above
SCQ (Social Communication Questionnaire): Suitable for children aged 4 and above
(2) Clinical diagnosis
Formal evaluations are conducted by pediatric psychiatrists, psychologists, developmental behavioral pediatricians, etc. The main methods include:
• Medical history collection: parent interviews, growth records
Behavioral observation: such as social interaction, language ability, and stereotyped behavior
• Cognitive and language assessments: such as intelligence tests (WISC), language development tests
(3) Auxiliary examination (excluding other diseases)
Autism does not have a specific laboratory or imaging diagnosis, but other possible neurological disorders can be ruled out through the following tests:
• Genetic testing: related genetic diseases such as Fragile X syndrome, Rett syndrome, etc
• Electroencephalogram (EEG): ruling out epilepsy related issues
Magnetic Resonance Imaging (MRI): Examining structural abnormalities in the brain
Metabolic screening: ruling out congenital metabolic abnormalities
3. Diagnostic challenges
• Large individual differences: The symptoms and severity of autism vary greatly among individuals.
There are many comorbidities, such as attention deficit hyperactivity disorder (ADHD), anxiety, intellectual disabilities, etc., which may affect the diagnosis.
Mild cases are prone to missed diagnosis: High functioning autism (such as Asperger's syndrome) may be overlooked due to normal intelligence and good language abilities.
4. Diagnosis of adult autism
Many high functioning individuals with autism (such as Asperger's) only become aware of their social impairments as adults, and can use:
AQ (Autism Quotient Scale): Suitable for self-assessment by adults
RAADS-R (Adult Autism Assessment Scale)
ADOS-2 (Adult Edition)
summarize
The diagnosis of autism requires comprehensive consideration of behavioral manifestations, medical history, and scale assessment, and a comprehensive evaluation by professional doctors. Early screening and intervention are crucial for improving prognosis.