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自闭症谱系障碍

Autism Spectrum Disorder

作者信息

Hodis Brendan, Mughal Saba, Saadabadi Abdolreza

机构信息

Boston University, Chobanian & Avedisian School of Medicine/Boston Medical Center

Western University/ Kaweah Delta

Abstract

Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder. According to the (), the diagnostic criteria for autism spectrum disorder are: Pervasive difficulties in social communication across multiple contexts, as manifested by all of the following, currently or by history: Deficits in social-emotional reciprocity ranging from abnormal social approach and failure of normal back-and-forth conversation to reduced sharing of interests, emotions, or affect to a failure in initiating or responding to social interactions. Deficits in nonverbal communicative behaviors used for social interaction, ranging from poorly integrated verbal and nonverbal communication to abnormalities in eye contact and body language or deficits in understanding and use of gestures to a total lack of facial expressions and nonverbal communication. Deficits in developing, maintaining, and understanding relationships that ranges from difficulties adjusting behavior to suit various social contexts to difficulties in sharing imaginative play or making friends to the absence of interest in peers. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least 2 of the following, currently or by history: Stereotyped or repetitive motor movements, use of objects, or speech (eg, simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases). Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (eg, extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, needing to take the same route or eating the same food every day). Highly restricted, fixated interests that are abnormal in intensity or focus (eg, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (eg, apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement). Symptoms must be present in the early developmental period (but may not fully manifest until social demands exceed limited capacities or may be masked by learned strategies in later life). Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. These disturbances are not better explained by intellectual developmental disorder (intellectual disability) or global developmental delay. Intellectual developmental disorder and ASD frequently co-occur. To make comorbid diagnoses of ASD and intellectual developmental disorder, social communication should be below that expected for the general developmental level. An important aspect of the diagnostic criteria is the use of specifiers of current severity, level of intellectual impairment, level of language impairment, association with known genetic or medical conditions or environmental factors, and if comorbid catatonia is present, allowing the clinician to communicate a more detailed clinical description when diagnosing ASD. See  Severity Specifiers for Autism Spectrum Disorder, Table. The diagnosis of ASD replaces a spectrum of conditions such as autistic disorder, Asperger disorder, and pervasive developmental disorder not otherwise specified that were previously diagnosed separately in the (). According to the Centers for Disease Control and Prevention, 15% to 20% of the world's population exhibits some form of neurodivergence. Neurodiversity refers to the diversity of minds and brains in the world, as each individual is unique, and there is no single "right" way of thinking. The term neurodiversity is often used for neurological and developmental conditions such as ASD, attention-deficit/hyperactivity disorder, and learning disabilities to describe non-pathological variations in the function of human brains. Neurodivergent individuals are frequently stigmatized and devalued. Neurodiversity embraces the concept that differences need not be viewed as deficits. Although healthcare professionals often use person-first language, such as "individual with autism," many adults with autism prefer identity-first language, such as "autistic person." Healthcare professionals should use the patient's preferred language. Parents and families with children diagnosed with ASD confront numerous challenges—social isolation, emotional frustrations, strained relationships, and financial burdens. The rate of ASD in siblings is higher, especially in monozygotic twins. Significant barriers to care exist for individuals with autism, and clinicians need to have a framework to facilitate care. One such framework is the SPACE (sensory, predictability, acceptance, communication, empathy) model, which addresses 5 core autistic needs: Sensory needs: Sensory sensitivities are common for people with autism, and sensory issues can make healthcare environments inaccessible. Sensory overload in a medical environment can lead to involuntary shutdowns or meltdowns. Predictability: Autistic individuals need routine and structure and may experience extreme anxiety with change or new experiences. Acceptance: Stigma and stereotypes are damaging to people with autism, who require understanding, a holistic approach, and appropriate accommodations. Communication: When stressed, people with autism may experience challenges with verbal communication and may do better with augmentative and alternative communication methods such as writing or using electronic devices. Empathy: Autistic people may experience hyper-empathy, leading to shutdown. Healthcare professionals may find the perspective of the autistic person challenging. .

摘要

自闭症谱系障碍(ASD)是一种多方面的神经发育障碍。根据(),自闭症谱系障碍的诊断标准如下:在多种情境下普遍存在社交沟通困难,目前或既往有以下所有表现:社交情感互惠方面存在缺陷,从异常的社交方式、正常来回对话失败到兴趣、情感或情绪分享减少,再到发起或回应社交互动失败。用于社交互动的非言语交际行为存在缺陷,从言语和非言语沟通整合不佳到眼神接触和肢体语言异常,或理解和使用手势存在缺陷,再到完全缺乏面部表情和非言语沟通。发展、维持和理解人际关系存在缺陷,从难以调整行为以适应各种社交情境到难以进行想象性游戏或交朋友,再到对同龄人缺乏兴趣。存在受限的、重复的行为、兴趣或活动模式,目前或既往有以下至少2项表现:刻板或重复的运动动作、物品使用或言语(如简单的运动刻板行为、排列玩具或翻转物品、模仿言语、特殊短语)。坚持同一性,僵化地遵守常规,或言语或非言语行为的仪式化模式(如对小变化极度痛苦、难以过渡、僵化的思维模式、问候仪式、每天需要走同一路线或吃同一食物)。高度受限、固定的兴趣,其强度或焦点异常(如强烈依恋或专注于不寻常的物品、过度局限或持续的兴趣)。对感觉输入过度敏感或反应不足,或对环境的感觉方面有异常兴趣(如对疼痛/温度明显漠不关心、对特定声音或质地有不良反应、过度嗅闻或触摸物品、对灯光或运动有视觉迷恋)。症状必须在发育早期出现(但可能直到社会需求超过有限能力时才会完全显现,或在后期生活中可能被习得的策略掩盖)。症状在社交、职业或当前功能的其他重要领域造成临床上显著的损害。这些障碍不能用智力发育障碍(智力残疾)或全面发育迟缓更好地解释。智力发育障碍和ASD经常同时出现。要对ASD和智力发育障碍进行共病诊断,社交沟通应低于一般发育水平预期。诊断标准的一个重要方面是使用当前严重程度、智力损害水平、语言损害水平、与已知遗传或医学状况或环境因素的关联以及是否存在共病紧张症的说明符,使临床医生在诊断ASD时能够传达更详细的临床描述。见自闭症谱系障碍的严重程度说明符,表。ASD的诊断取代了一系列以前在()中分别诊断的疾病,如自闭症障碍、阿斯伯格障碍和未特定的广泛性发育障碍。根据疾病控制和预防中心的数据,世界上15%至20%的人口表现出某种形式的神经差异。神经多样性指的是世界上思维和大脑的多样性,因为每个人都是独特的,没有单一的“正确”思维方式。术语“神经多样性”通常用于神经和发育状况,如ASD、注意力缺陷/多动障碍和学习障碍,以描述人类大脑功能的非病理性变异。神经差异个体经常受到污名化和贬低。神经多样性接受差异不必被视为缺陷的概念。尽管医疗保健专业人员经常使用以人为主的语言,如“自闭症患者”,但许多自闭症成年人更喜欢以身份为主的语言,如“自闭症人士”。医疗保健专业人员应使用患者喜欢的语言。被诊断患有ASD的儿童的父母和家庭面临众多挑战——社会隔离、情感挫折、关系紧张和经济负担。兄弟姐妹中ASD的发病率更高,尤其是在同卵双胞胎中。自闭症患者在获得护理方面存在重大障碍,临床医生需要有一个促进护理的框架。一个这样的框架是SPACE(感觉、可预测性、接受、沟通、同理心)模型,它解决了自闭症患者的5个核心需求:感觉需求:感觉敏感对自闭症患者很常见,感觉问题会使医疗环境难以进入。医疗环境中的感觉过载会导致非自愿关闭或崩溃。可预测性:自闭症个体需要常规和结构,可能会因变化或新体验而经历极度焦虑。接受:污名和刻板印象对自闭症患者有害,他们需要理解、整体方法和适当的调整。沟通:当感到压力时,自闭症患者可能在言语沟通方面遇到挑战,使用诸如写作或电子设备等辅助和替代沟通方法可能会更好。同理心:自闭症患者可能会经历过度同理心,导致关闭。医疗保健专业人员可能会发现自闭症患者的观点具有挑战性。

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