孤独症谱系障碍
孤独症谱系障碍 Autism spectrum disorder | |
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同义词 | 自闭症(autism) |
症状 |
|
起病年龄 | 发育期。尤其是儿童早期[1],多在36个月以内[2] |
病程 | 终生。临床表现可随年龄增长发生变化[1] |
类型 | 神经发育障碍 |
病因 | |
诊断方法 | 根据个案病史及症状进行临床诊断 |
鉴别诊断 | 注意缺陷多动障碍、智力发育障碍、言语障碍、选择性缄默症、社交焦虑障碍、强迫症、精神分裂症、人格障碍[1] |
常见共病 | 智力发育障碍、功能性语言损害、注意缺陷多动障碍[1][3] |
治疗 | 目前并没有标准疗法,但是可通过下列方法来减轻症状:行为管理疗法、认知行为疗法、早期介入、教育和学校治疗、共享注意疗法、药物治疗、营养疗法、职业治疗、父母介入疗法、物理治疗、社交技能训练、语言治疗[4] |
药物 | 核心症状通常不投药;共伴疾病有时候可使用抗抑郁药、兴奋剂及抗精神病药来治疗 |
预后 | 无法治愈。智力与语言水平等是重要预后因素[5] |
患病率 | 大约 1% |
分类和外部资源 | |
医学专科 | 小儿科、神经内科、精神医学、职业医学 |
ICD-11 | 6A02 |
孤独症谱系障碍 | |
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自闭症关怀丝带 | |
类型 | 神经发育障碍 |
分类和外部资源 | |
医学专科 | 心理学 |
ICD-11 | 6A02 |
ICD-10 | F84.0 |
ICD-9-CM | 299.0 |
OMIM | 209850 |
MedlinePlus | 001526 |
eMedicine | med/3202 ped/180 |
MeSH | D001321 |
孤独症谱系障碍(autism spectrum disorder),通称孤独症(autism,中国大陆称孤独症,港台称自闭症)[注 1],是一类起病于发育早期,以持续的“社交互动与社交交流能力缺陷”及“受限的、重复的行为模式、兴趣或活动”为主要临床特征的神经发育障碍[2][1],旧称广泛性发育障碍[5][注 2]。可根据是否伴有智力发育障碍等来给出进一步的诊断编码。有关孤独症谱系障碍患病率的各研究得出的结果波动范围较大,中位值约为1%[8];且患病率日益增高[2]。男性被诊断为孤独症谱系障碍的可能性约为女性的4倍[1][8]。
除两大核心症状外,其他常见征兆还有对于感官协调能力的异常反应[9]。称为“谱系障碍”,表示每个个案的症状皆不尽相同:个案可能表现出某些与症状相关的特征,但不见得具备所有特征,并且各自特征之严重程度也经常大相径庭;[10]有些自闭症患者终其一生都不会说话,而其他患者相对而言口语表达却算没有问题。不同个案所需要的支持程度差异颇大,单一个案在不同时期的表现也可能不同。[11]从历史发展来看,自闭症被划分出许多子类别,但是这些区分是否有效一直都受到质疑。当前主要心理疾病诊断手册之最新版本将ASD单独列为障碍类别。[12][1]家长一般会在自闭症孩童两到三岁时注意到其状况[13]。
科学家仍努力确定自闭症的形成原因。自闭症与遗传有高度关联,据称主要是基因所致,但牵涉的基因很多,环境因素也可能有关系。[14]目前还不清楚为什么自闭症经常与注意力不足过动障碍、癫痫、智力障碍等疾病同时发生。关于自闭症诊断应包括哪些内容、是否存在有独特意义的自闭症亚型,[15]以及潜藏在更为广大人群中的泛自闭症特征有多重要,一直都意见分歧。[16][17]由于自闭症诊断标准更加普及,加上人们对疾病的意识提升,使得自闭症患病率的趋势稳定成长,却导致人们普遍误认自闭症是流行病,[18]甚至连自闭症是疫苗所引起这样的都市传说都持续流传着。[19]各种早期介入方法(例如应用行为分析)可以帮助自闭症患者发展出自我照顾、语言及社交的技巧。而需要高度支持的自闭症患者通常较难以独立生活,这类个案的介入方式就必须通过其他沟通方式(辅助沟通系统,AAC)的探索与学习而为之。
名称与分类
[编辑]孤独症谱系障碍[20]、也称“自闭症谱系障碍”[21](autism spectrum disorder, ASD,中国大陆称孤独症谱系障碍[20]、也称“自闭症谱系障碍”[21],香港称自闭症谱系障碍,台湾称自闭症类群障碍[22]、也称自闭谱系疾患[23]),通称孤独症、也称“自闭症”[24](autism,中国大陆称孤独症、也称“自闭症”[24],港台称自闭症)。世界卫生组织出版的《国际疾病分类》(最新版为2019年公布的第十一次修订本,通称ICD-11)与美国精神医学学会出版的《精神障碍诊断与统计手册(DSM)》(最新版为2022出版的DSM-5-TR)是国际上影响最大的两套精神障碍分类与诊断系统[5]。过去的诊断标准——直至ICD-10(1990)与DSM-Ⅳ-TR(2000)——未采用谱系模型,而是分列了一系列症状相似的疾病,将这些疾病统归于广泛性发育障碍(pervasive developmental disorders, PDDs,中国大陆译广泛性发育障碍,台湾译广泛性发展疾患)[25][5]。在ICD-10中,“广泛性发育障碍”包括了童年期自闭症、不典型自闭症、Asperger综合症[注 3](Asperger syndrome)等六种主要疾病[28];在DSM-Ⅳ-TR中,包括了原“自闭症”(autistic disorder)、Asperger障碍(Asperger's disorder)等四种主要疾病[29]。
之后,DSM-5(2013)删除了“广泛性发育障碍”大类,并将原先的几种疾病合称为“孤独症谱系障碍”[30][31]——这么做的原因是:大量证据表明,不同的“广泛性发育障碍”各种疾病之间的区别并不明显(尤其是原“自闭症”与Asperger障碍),以及它们很可能有共同的病因[32];这些(原)疾病实质上代表着社交缺陷与重复行为从轻度到重度的一个谱系,而非独立疾病[3]。DSM-5-TR(2022)延续了这种处理[3]。ICD-11(2019)同样不再使用“广泛性发育障碍”类别,只剩下“孤独症谱系障碍”这一种疾病,列于“神经发育障碍”之下[1]。不过,尽管最新两大诊断标准都已不推荐,但仍有学者认为将Asperger综合症等将孤独症谱系障碍中区分出来是有用的[33],在临床实践中也仍能见到医生用Asperger综合症[34]等诊断来进行治疗。
ICD-11与DSM-5-TR均表示可给孤独症谱系障碍诊断添加更具体的描述编码。ICD-11根据是否“伴有智力发育障碍”与“功能性语言损害程度”设立了5个诊断编码,如过去被诊断为Asperger综合症的患者,现可诊断为6A02.0“‘不伴智力发育障碍’‘伴轻度或不伴功能性语言受损’的孤独症谱系障碍”;此外还表示可标注伴有既往习得技能丧失等[1]。DSM-5-TR重点介绍了根据两大核心症状的严重程度来为患者确定需要支持的程度的编码方法(严重程度可随时间而变),此外也表示可根据是否伴有智力缺陷、语言缺陷以及是否有确定病因等等进行编码[3]。除目前的诊断标准外,研究者还提出了根据运动技能[35]等方面来区分孤独症谱系障碍亚型的方式。
孤独症谱系障碍患者多共病智力发育障碍。智力水平正常或接近正常的患者可称为“高功能型孤独症谱系障碍”,有明显智力损害的则为“低功能型孤独症谱系障碍”,不过它们并非正式的诊断编码或亚型[5]。大众文化中常出现具有出众特殊才能的自闭症患者的形象,有时被形容为“低能天才(英语:idiot savant)”[6]“天才病”[36]等,但事实上这种案例在自闭症患者中相当少见[37][6]。由于代偿机制的存在,一些患者的机械记忆能力、空间视觉能力等较为突出、远高于言语智商,但通常仍然弱于正常同龄人[5]。
临床表现
[编辑]孤独症谱系障碍的两大核心特征是“社交互动与社交交流能力缺陷”及“受限的、重复的行为模式、兴趣或活动”[2][1]。
社交能力缺陷
[编辑]孤独症谱系障碍患者在社交互动方面存在质的缺陷,在社交交流方面存在不同程度的困难[2]。若参照DSM-5-TR可将社交互动与社交交流缺陷大致分为三类:社交、情感互动缺陷,社交互动中使用非语言交流行为的缺陷,发展、维持和理解人际关系的缺陷[3]。其中“社交、情感互动缺陷”表现如:对他人言语或非言语交流难以理解、缺乏兴趣或无法作出恰当反应,难以启动和维持互动性对话,不关注、难以理解或难以想象他人表情、感受、情绪和态度及作出对应反应,不会相互分享兴趣与欢乐[1][2],等等;“社交互动中使用非语言交流行为的缺陷”表现如:难以整合语言与非语言线索(如眼神接触、手势、表情、肢体动作等),自身非语言行为减少或异常[1][2][3],等等;“发展、维持和理解人际关系的缺陷”表现如:不能根据社交情景或社交线索调整社交行为[2](即缺少社交觉知[1]),缺少建立和维持友谊的兴趣及能力[1][2][3],等等。这些社交上的缺陷对应于患者的语用交流缺陷(pragmatic language deficits)[1]。在DSM-V(2013)之前,社交互动缺陷与社交交流缺陷被算作不同的核心症状[29];由于它们相关性太强且难以区分,DSM-V起将它们归为一类[38][39]。ICD-10(1990—2019)[28]至ICD-11(2019)[1]亦有一样的变化。
婴儿患者缺少目光对视、呼唤反应、社会性微笑及情感互动。幼儿患者对父母缺少依恋,并存在共同注意(彼此引发对第三者注意)障碍[2]。许多儿童患者不喜欢与同伴玩耍互动,可能因共情缺陷而做出令同伴不适的行为(如身体过于贴近),可能在社交中出现非典型行为(如通过推挤同伴寻求注意)等[40]。轻症患儿或年长症状有所改善的患者可能有一定的社会交往兴趣,但社会交往技巧依然落后,难以建立友谊,也难以建立恋爱关系和结婚[2]。
自闭症患者通常会表现出对特定主题的强烈兴趣、好像在授课般独白式表述自己关心的事物,而非和交谈对象相互交流。[41]自闭症患者这些看起来像自导自演或对他人漠不关心的行为,可能是由于患者难以认知或记住别人也有自己的个性、观点及兴趣。[42][43]自闭症患者在实际沟通时与常人还有个不同之处:患者可能无法意识到在不同社交环境中需要控制自己的音量,他们可能会在需要降低音量的地方或场合(例如在图书馆或看电影时)大声说话。[44]
自闭症患者的非语言行为表现较为不寻常或是很有困难;他们可能很少进行眼神交流,就算被叫到名字时可能也不会望向对方,或是会避免接触观察者的目光。焦虑障碍患者固然也讨厌被注视,但是自闭症孩童的状况却非出于害羞或焦虑,而是整体眼神注视次数都无差别地比较少。自闭症患者可能难以理解或做出面部表情;他们通常不知道如何从别人的面部表情中辨认情绪,可能也无法用适当的面部表情来回应别人。除了难以察觉情绪表达的微妙差异,也难以分别各种情绪在沟通时的意涵。[45][41]社交困难以及经常缺少众人习以为常的人际直觉,是用来定义自闭症的根本特征。天宝·葛兰汀是位推广认识自闭症的高功能自闭症女性(其故事被改编为电影《星星的孩子》),根据她的描述,她无法理解神经典型者(即一般人),遑论与他们进行社会交流;她觉得自己“就像火星上的人类学家”。[46]如果丢给自闭症患者过多资讯以至于一时难以处理,他们可能就抓不到肢体语言或社交暗示(例如眼神一闪或挤眉吐舌)等讯息。他们经常难以理解对话中或书面文字的前后脉络及弦外之音(即过于局限于字面意义),也难以从上下文内容得出结论,这也导致患者容易缺少社会意识以及语言表达较不典型。[42]孤独症谱系个案和神经典型者两者面部表情有何差异尚不清楚。[47]自闭症孩童有一半以上说话的韵律不寻常。[44]
自闭症患者在语言沟通上也可能遇到麻烦。沟通异常可能从孩童出生后第一年就出现,诸如较晚出现牙牙学语、有不寻常的手势、反应迟钝以及发声模式与照顾者不同步。到了孩童二~三岁时,其牙牙学语、辅音、单词及单词组合的使用频率及种类都相对较少;他们也很少结合文字来使用手势。自闭症儿童难得主动提出要求或分享经验,比较多的反倒是单纯地重复别人的话(模仿)。[48]共享式注意力(Joint Attention)对于功能式言语似乎相当必要,可以用来区分婴儿是否患有ASD,[49]例如他们可能会看着手指,而非手指所指向的物体,[50][51]所以他们始终难以指著东西来加以评论或分享经验。[52]自闭症儿童可能难以进行想像力游戏,也不容易从习得符号转成学会语言。[51]自闭症语言行为包含了重复或僵化的语言,以及局限的谈话兴趣。例如孩童可能会重复著单字,或总是坚持谈论同个主题。[40]自闭症个案也可能出现模仿症,例如回答问题时不是给答案而是重复著对方的提问。[41]自闭症孩童很常出现语言障碍,尽管这不是确诊的判准。[40]自闭症孩童语言能力的发展速度参差不齐,他们可能很容易学会语言沟通的某些侧面,而在其他侧面却始终无法完整发展,[41]甚至有时会出现“超读症”(Hyperlexia,又译高读症、识字早慧)。根据美国疾病管制与预防中心(CDC)估计,即使自闭症孩童在读写能力和非语言沟通技巧上展现出各式各样的水准,大约有40%个案终其一生都不会说话。[53]
如果从社交缺陷的角度来预测,自闭症患者彼此间的互动效果应该会比自闭症患者与非自闭症人士的互动差,甚至患者间的互动是没有功用的[54]。但是晚近的研究发现,自闭症患者间的互动在信息传递上,和他们与非自闭症人士间的互动一样有效果;甚至自闭症患者间可以交流,只是难以和非自闭人士沟通[54][55]。根据晚近的研究记录,同样悖于社交缺陷认知理论的还有:从类似的社交认知表现来看,自闭症患者间的互动评比优于自闭症患者与非自闭症人士间的状况;总之,自闭症患者较有兴趣和自闭症患者互动,就算知道对方确诊孤独症谱系障碍也不会因而降低好奇。[56]
故而近来人们的认知逐渐转变成“自闭症患者与非自闭症人士之间可能只是反应及行为方式不同而已”[57]。至今的研究也已确认自闭症患者彼此间建立共同理解(主体间性)时,有两个非典型的特点:1.慷慨的假设与对方有共同基础:如果此假设被双方理解,可能会迅速建立默契;如果不然,很可能会干扰到沟通表达方式;2.比较不需要相互协调:自闭症患者在沟通时可能不像神经典型者那么需要协调,这种低需求可以缓解协调时彼此干扰甚至让对话急转直下的状况。[58]自闭症者似乎相当受特定主题之强烈兴趣的驱动,所以他们关注的以及对话主题也聚焦在少数喜好(单一注意力趋向)。[59][60]
过往以来按照心智理论的看法,自闭症孩童的发展迟缓,但是“同理化─系统化理论”则认为,自闭症患者对于有相似症状的人可以表现出同情,但是以情感上的同理为主,虽然认知上也可以同理,但是比较受限[61]。具体表现可能是社交上的天真[62],对于身体语言、社交互惠[63]、社交预期(包括社交惯习、暗示)或某些讽刺[64],在意义理解与有效运用的直觉都低于平均值,某个程度上可能也是由于述情障碍之共病所致。但是最近的研究越来越质疑这些看法,例如“双重同理问题”理论(2012)认为:一个人能“同理”另一个人,主要是彼此对于“行事及言谈的规则”的认知相似,进而产生默契[65];而神经典型者与自闭症患者对于“规则”的认知有极大的差异,导致双方互相都缺乏理解及同理。[66][67][68][69]
由于沟通是双向的[70],研究自闭症患者的沟通困难也扩及到神经典型者这一端的行为。Catherine Crompton在2020年说:神经典型者“难以辨认自闭症患者的心理状态与面部表情,且高估了自闭症患者的自我中心特征,不太愿意与他们社交互动。所以就算神经典型者通常被认定为具备社交技能,但是和自闭症患者互动时,这些技能却可能无法发挥功用。”[71]因此所谓的自闭症患者的沟通缺陷,可能是出于神经典型之偏见所建构的结果,人们开始审视这是否有“去人化、物化及污名化”的问题[72]。研究也指出:自闭症患者的阅读困难以及神经典型者不愿意花力气去解释非神经典型的诸般讯息,可能会导致负面的互动循环,渐渐将两种群体推向不同社交互动风格的两端。[73]
受限的兴趣与行为
[编辑]ASD的特征各式各样,其中行为特征的范围从社交技巧及学习能力发展缓慢,到难以与他人建立关系都有。自闭症患者可能会在经历相关课题时,因焦虑或抑郁(甚至是课题体验时最有感的情绪)而产生不当连结,结果是孤立自我。[74]
ASD其他行为特征还包括:感觉统合(感觉接收、感觉调节、前庭觉本体觉等体感协调、感觉运用及理解抽象概念)的异常反应,以及保持言语节奏前后一致的问题。后者会影响个案社交技能,并导致别人与之沟通及理解时可能有麻烦。自闭症患者外显的行为特征,诸如知觉、发育速度、联想、言谈或语言以及运动能力等障碍,通常都会影响其整体发育、语言及社交的能力。[75]
孤独症谱系的第二个核心症状是局限或重复的行为、活动及兴趣。根据DSM-5-TR ,个案至少必须出现下列行为两种以上方为确诊ASD:[3][76]
- 重复行为:例如摇晃、拍手、弹手指、撞头、重复某些短语或声音。这些行为可能会持续出现,也可能只有在感到压力、焦虑或不安时才出现,又称为自我刺激。[40]
- 抗拒改变:严格遵守常规,如按照特定顺序吃某些食物,或每天走同条路线上学。[40]他们可能会对于生活常规受到改变或中断感到焦虑烦乱。
- 兴趣局限:对特定的活动、主题或嗜好过度地感兴趣,并投入所有心力于其中。例如,幼童可能整个专注在旋转的东西上而忽略外在世界;年长的孩子可能会尝试学习某个主题(例如天气或运动)的一切内容,并经常持续固着地谈论这个主题。[40]
- 感官反应异常:对某些感觉输入有异常反应,例如排斥特定声音或质地,着迷于光线或某些动作,或明显对疼痛或温度没有反应。[77]
自闭症患者之重复或局限行为有许多型态,〈重复行为量表修订版〉(RBS-R) 之分类如下[78]:
- 刻板行为:重复的动作,例如拍手、转头或摇晃身体。
- 强迫行为:用来减少焦虑的耗时行为,个案非得要重复地或严格按照规则来实行的行为,例如依特定顺序摆放物品、不断检查物品或一直洗手。
- 千篇一律:抗拒改变;例如,坚持家具不能移动或拒绝被打扰。
- 仪式行为:日常活动的固定模式,例如固定的菜单或衣着搭配。这和千篇一律密切相关,有独立验证建议将这两项合并。
- 兴趣局限:兴趣或目光异常地局限或注意力过度集中在某些主题上,例如全神贯注在单一电视节目、玩具或游戏,使患者对那些有兴趣物件/东西过度沉迷,把它们变成单一的兴趣,导致荒废自己在其他方面(如学业或工作)的表现,甚至影响自己与家人或非相同兴趣人士的关系。
- 自我伤害:戳眼睛、抠皮肤、咬手及撞头等行为。[52]
自我伤害
[编辑]自伤行为(SIB)在自闭症患者中相对常见,诸如撞头、割身体、咬自己及拉扯头发;其中某些行为甚至可能导致重伤或死亡。[79]发育迟缓孩童(包括自闭症个案)自残行为原因之相关理论如下[80]:
- 环境因素可能会影响自伤行为的频率或持续时间(例如,通过奖励或交换以停止自伤行为)。但是操作性条件反射理论可能较不适用于年幼的自闭症孩童,因为并没有充足证据来支持“将造成自伤行为的环境因素加以消除或修改可以降低自伤的频率”,故社会强化过程只适用于少数儿童。[80]:10–12
- 自闭症个案中有较严重社会孤立状况者其自伤率较高。研究指出社交技能缺失是自闭症患者自伤行为的相关因素。[81]
- 当自闭症患者有其他慢性疼痛或引起疼痛之健康问题时,自伤行为可能是其调节疼痛感受的反应,并且在社会制约前就已经先和环境因素作用而形成惯性。[80]:12-13
- 患者痛感阈值较高导致反应低下可能是出现自伤行为的原因。但是对于ASD个案而言,毋宁是他们无法像一般孩童那样地表达不舒服或疼痛的感觉。[80]:13
- 基底核连结异常可能有助于造成自伤行为。[80]:13
其他样态
[编辑]自闭症患者有些症状虽然与诊断无关,还是会影响自己或家庭。[82]某些ASD患者展现出不寻常的能力,从“零碎天赋”到学者综合症般的罕见才能不等。[83]有研究描绘了某些ASD患者展现出比常人更出色的感知力及注意力。[84]超过90%ASD患者的感觉系统异常,有人视之为ASD的关键特征。[85]目前归类为孤独症谱系障碍的相关疾病,彼此在感觉调节障碍(SMD)的差异主要是在反应不足(例如沉浸在事物中)方面,比较不是在反应过度(例如巨大噪音造成的痛苦)或寻求感觉(例如有节奏的动作)方面。[86]据估计60-80%的自闭症患者有肢体运动方面的症状,包括肌张力低下、失用症及踮脚尖走路;[85][87]整个ASD类群都有运动协调缺失,古典自闭症的症状较严重。[88]大约四分之三的自闭症孩童会出现饮食异常行为,之前还被当作诊断指标。挑食最为常见,也有饮食习惯固着及不吃东西。[89]
初步证据显示自闭症患者更容易出现性别不安的样态。[90][91]2021年某项针对16岁至90岁大众的匿名线上调查,透露出自闭症男性患者较可能被当成双性恋,自闭症女性患者较可能被当成同性恋。[92]
肠胃等消化器官问题是自闭症光谱的共伴疾病,[93]与患者较易发生社交障碍、易怒、语言障碍、情绪变化、行为问题及睡眠问题有关。[94][95]
病理性需求回避(PDA)也可能发生在自闭症患者身上,导致患者较有可能拒绝别人要求或期待他做的事情,甚至连原本喜欢的活动都拒绝。[96]
自闭症孩童父母的压力比一般父母的更大。[50]相较于一般孩童的兄弟姊妹,ASD孩童的兄弟姊妹即使偶尔也会被患者惹毛、搞不清楚为什么他会有那些表现,但是他们通常对于患者的羡慕较多、冲突较少;手足关系这方面与患有唐氏症及妥瑞式症之孩童的兄弟姊妹相似。[97]:315-317有些证据显示ASD孩童的兄弟姊妹,在孩童期可能面临较高风险的社会适应及行为调整问题。成年后也可能一直都有手足关系不够亲密、社交困难及情绪问题等。[97]:317-318当然研究也指出:还需要更多年龄分组样本、生命历程纵向研究、潜在调节因素及广泛自闭症表现型(broader autism phenotype, BAP)来进行深入调查,甚至把ASD患者的兄弟姊妹也纳为变量进行研究,方能增进ASD家庭及社会之福祉。[97]:318-319
病程特征
[编辑]ASD可能有两种发展过程。第一种是渐进的,症状在生命早期就出现并持续存在。[98]第二种则是原本表现正常或近乎正常,然后能力慢慢退行或丧失,称为退行式自闭症。[99]
渐进式自闭症
[编辑]大多数个案的父母表示孩子自闭症特征出现在一两岁时。[100][101]此类自闭症的发展过程极为缓步,因为父母通常在孩子一两岁时就注意并忧心其发展,但是到孩子三四岁左右可能才确诊。[98]孩子6个月大之后逐渐开始出现外显样态,在两三岁时形成明确特征,[102]症状并倾向于一直持续到孩子成年,自闭症障碍也经常以更柔和的形式展现。[103]ASD案例的早期迹象包括:对人脸的注意力下降、叫名字时没有明显反应、无法用言语或手势来表现兴趣,以及较晚出现假扮游戏。[104]
退行式自闭症
[编辑]有些孩童原先看似发育正常,但后来慢慢丧失语言及社交技能并被诊断出患有自闭症障碍,就是所谓的退行式自闭症。[105]用来描述这种情况的术语有:退化式自闭症、自闭症式退化、退缩型自闭症及后天自闭症综合症。[106]其症状会渐渐加重,不过有些有自闭症的孩童在自闭症恶化之前,在一段时间内有着正常或接近正常的早期发展阶段(见儿童发展阶段),之后会出现一个或多个自闭症的特发特征,比如语言倒退等。因此,早期发育的特定时间段受自闭症的影响较小,诊断也更难[107]。
退行式自闭症发展过程有两种模式。第一种是在孩童出生后15个月至3年内出现了发育迟缓;[108][109]第二种是儿童瓦解式障碍(现在包含ASD诊断类别中),其特征是在孩童3、4岁到9岁前的发育都正常,之后才出现退化的状况。[110]
孩童发育倒退一旦启动,就循着自闭症神经发育惯行模式走。退行式自闭症一词指的是神经发育上出现逆转现象;逆转实际上说的是某些技能发展受到影响,而不是整个神经系统发展都倒退。
退行式自闭症的明显发作通常会让父母感到惊讶和痛苦,开始他们常怀疑那只是听力严重受损造成的现象。[111]将退行症状归因于环境压力因素可能会导致成延后诊断。[52]
退行并无标准定义。[106]有些孩子表现许多特征,有的早期即发育迟缓,有的后来才丧失能力;证据显示自闭症退行与没有退行之间,行为上的展现比较像是连续交织的光谱,而非泾渭分明、非此即彼。[112]还有几种发展属于中间类型,无法一望而知就归类为典型的早发自闭症或退行自闭症,毋宁是混合了早期发育不足或失败、某些方面细微的衰退以及某些方面明显有缺陷的综合体。
退行的症状可能出现在许多领域,诸如沟通、社交、认知及生活自理的技能;但是最常见的还是语言退化,[113][108][109]有些孩子是失去社交发展能力但是语言能力还行,有些则是两者都退失。[112]能力退化有快有慢,或是很长一段时间能力成长停滞;能力退行时可能伴随着社交活动减少或烦躁增加。[106]退行期习得的技能可能不过几句口语,或某些低阶的社会能力。[112]
退行式自闭症何时算是发病,要看使用什么定义而定。[112]如果退行被严格定义为“语言必需丧失”,那么就不算常见;如果定义放宽些,例如语言无碍但社会互动略为减少也算,那就比较常见。[112]尽管普遍认为退行性自闭症是罕见疾病(相较于渐进式自闭症),但是争论持续中;[113]有证据表明退行式自闭症的模式可能越来越常见。[114]有人认为退行式自闭症单纯就只是晚期发现的早发自闭症。也有人进行研究以确定退行式自闭症是否是 ASD的独立子集,但研究结果却互相矛盾。[105]
其他研究结果
[编辑]由这两个发展过程产生的不同结果,尘埃尚未落定。有的研究指出:退化式自闭症与较差症状比较有关,但其他研究却说,早发渐进式患者和经历过退行期的患者之间没有差异。[115]虽然自闭症对于语言方面有何影响,相关证据相互矛盾,但有研究表明,孩童2岁半时所展现的认知及语言能力,可能有助于预测5岁后熟练并运用语言的能力。[116]总之,研究文献都强调早期介入对于个案生命历程之正面发展的重要性。[117]
病因
[编辑]人们长久以来普遍认为构成ASD症状的社会及非社会部分,在基因、认知及神经层面上有其共同原因,古典自闭症之诊断标准更视之为三位一体。[118]然而越来越多人怀疑自闭症成因比想像中复杂,其核心原因可能不同且经常共伴发生。[118][119]虽然ASD不大可能是单一因素造成,[119]研究文献还是确定了可能影响ASD发展的许多风险因素:包括基因学、产前及产期前后(即怀孕期间或婴儿早期)、神经解剖学异常及环境等因素。要确定那些是普遍因素不难,但要准确指出是哪个特定因素造成的则困难得多。依照目前知识水平,只能做整体的原因预测,因此需要运用一般标志。[120]
生物亚群
[编辑]目前无法在自闭症患者中辨别出具有生物学意义的亚群,[121]加上精神病学、心理学、神经内科和小儿科之间传统的学科分野,皆阻碍了自闭症原因的研究。[122]功能性磁振造影(fMRI)及扩散磁振造影等新技术有助于识别生物学上的相关表型,观察神经成像可进一步研究自闭症的神经遗传学问题。[123]例如大脑梭形回区域的活动降低,可能影响人类对物体的感知。[124]Brett Abrahams就提倡用基因学及行为学来对自闭症加以分类。[125]
基因学
[编辑]自闭症原因与基因很有关系,虽然ASD基因相当复杂尚未厘清。目前也还不清楚要用基因主要功能的罕见突变来解释,还是由常见遗传变异的罕见多基因相互作用来解释;[126][127]而多个基因、环境及表观遗传因素(这些因素虽然不会改变DNA序列,但可以遗传并影响基因表现)之间的相互作用也加重了复杂程度。[103]对ASD个案及其父母的基因组进行定序后,发现许多与自闭症有关的基因。[128]但是哪些突变增加了自闭症风险则大部分尚未确定。通常不能用孟德尔突变或单一染色体畸变来追溯自闭症,且ASD相关之基因综合特征全部都没有被证明会个别地造成ASD。[126]人们已经找到许多候选基因,但是可归因于特定基因所影响的功能则微乎其微。大部分的基因座中能用来进行个别解释的自闭症病例不到1%。[129]到2018年,74%~93%的ASD风险似乎是可遗传的。先出生的孩子确诊ASD后,之后出生的孩子中有7%~20%可能也会确诊。[76]如果父母生出一个ASD孩童,有2%~8%的机会生下第二个孩子同样会患有ASD。如果同卵双胞胎其中一个患有ASD,则另一个有36%~95%会受到影响;异卵双胞胎受到影响的可能性则降到31%。家庭成员正常的自闭症患者中,多数可能是因为自发性之基因结构变异所致,例如基因物质在进行减数分裂过程时发生了基因删除、基因重复及染色体倒位,[130][131]自闭症个案中很大比例能溯及的基因,虽是高度可遗传的,但却不是来自父母遗传;也就是说导致自闭症的突变在个案父母基因组中并未出现。[132]
到了2018年,人们对ASD之基因风险因素的理解已经从聚焦在少数的等位基因,转变成基因对ASD之效应可能是扩散的,由大量变异所致;其中有些变异较常见但效应很小,有些变异则是罕见但效应很大。最常被罕见强力变异破坏的基因似乎是染色质解旋酶DNA结合蛋白8(CHD8),但只有不到0.5%自闭症患者有这种突变。CHD8基因是种依赖三磷酸腺苷(ATP)的酵素,可编码CHD8,是胎儿发育过程中不可或缺的染色质调节酵素。[133][134][135]此蛋白质包含一个Snf2解旋酶结构域,负责将ATP水解为二磷酸腺苷(ADP)。[135]CHD8编码的DNA解旋酶,系通过改变核小体的位置来重塑染色质结构,发挥着转录调节的功用。CHD8负向地调节Wnt信号,此信号对于脊椎动物的早期发育及形态发展相当重要。据称CHD8可募集组织蛋白H1并引发β-连环蛋白及肿瘤抑制蛋白(p53)靶基因的抑制作用。[133]被移除CHD8的实验鼠因p53扩散诱使细胞凋亡,实验鼠胚胎5天半即死亡,可以从此研究观察到CHD8的重要性。有些研究已经确定CHD8在ASD中的作用。CHD8之表现在人类胎儿中期发育过程中愈形重要。[133]染色质重塑活动及其与转录因子的相互作用,已显示在ASD病原学中发挥重要作用。[134]哺乳动物大脑发育时有个保守CHD8靶区与ASD风险基因相关。[136]人类神经干细胞之CHD8遭破坏会造成ASD风险基因的失调。[137]近来的研究认为CD8分化群与长链非编码核糖核酸(lncRNA)之调节、以及启动X染色体去活化(XCI)之调节都有关。[138][139]
有些孤独症谱系障碍与确定的基因状态有关连,例如X染色体易裂症,但是只有大约2%自闭症患者的X染色体易裂。[76]演化精神病学则假设这些基因与人类创造力、智力或系统化有关系才会一直存在。[140][141]
前述各种基因变异都会影响自闭症患者的发展,但不保证基因是决定因素。[142]
因为ASD被假设为男性为主的疾病,[143]女性或女孩ASD可能有诊断不足的状况;但是某些基因现象(例如基因组铭印和性联遗传)确实能增加男性发生ASD的频率及严重程度,且有些理论(例如脑印记假说及共情系统化理论)也常用基因来说明为什么男性更常确诊ASD。[144][145][146]
环境
[编辑]虽然环境因素所扮演的角色仍未有定论,研究人员发现7个经常出现在自闭症病人的基因组[147]。风险因子包括在怀孕时受到感染[注 4]或是接触毒素[注 5][148]。有些论点提出一些环境相关的原因,这也是自闭症的争议的一部分。例如曾认为麻疹腮腺炎德国麻疹混合疫苗会造成自闭症,后来未有证据证实这二者有关,之前提出的论文也被该期刊所废除[149]。自闭症会影响脑中的资讯处理,影响方式是改变神经元及突触连接及组织的方式,但其具体原因还不清楚[150]。
诊断
[编辑]当患者表现出下列状况,临床医生会考虑是否评估为ASD个案:
- 社交互动或沟通中经常出现困难。
- 固着或重复的行为(通常称为“自我刺激”)。
- 抗拒改变或兴趣局限。
出现下列样态,通常会在适当时候加以评估:
ASD有许多相关迹象,但是症状差异很大。孤独症谱系障碍的常见症状如下[153][154]:
- 避免目光接触。
- 婴儿时几乎没有牙牙学语。
- 对于指定对象不感兴趣。
- 语言技能迟缓(例如词汇比同龄者少,或难以表达自我)。
- 对其他孩子或照护者较不感兴趣,可能反而对物品更感兴趣。
- 难以进行互惠游戏(例如躲猫猫)。
- 对事物的气味、质感、声音、味道或外观,过度敏感、过度低敏或反应异常。
- 抗拒改变常规。
- 重复、局限或以其他不寻常方式使用玩具(例如排列玩具)。
- 重复单词或短语(模仿言语)。
- 重复动作或行为(包括自我刺激)。
- 自我伤害。
饮食异常也很常见,但不是确诊的必要症状。[82]
有些自闭症患者可以表现出引人注目的能力,例如在数学、音乐或艺术创作方面,某些特殊情况甚至被认为是学者综合症。[155][156]总而言之,自闭症患者往往有“技能峰谷化”的倾向:在某些领域能力拔尖,在某些领域能力超弱;大多数人(所谓“神经典型者”)的技能曲线通常较为平缓。[157] 孤独症谱系障碍通常是医生根据个案相关报告并亲自观察患者行为所做出的临床诊断。[158]根据DSM-5-TR的诊断标准,个案必须表现出“社交沟通和社交互动方面的持续缺陷”以及“受限或重复的行为类型、兴趣或活动”,才算是确诊ASD;[159]上述行为必须在儿童早期就出现,并影响到个案遂行日常事务的能力。再者,不能用智能障碍或整体发育迟缓就充分解释这些症况。
造成ASD难以诊断的因素有好几个。首先,没有标准造影、分子检测或基因测试可用来诊断ASD。[160]此外,ASD对个案的影响也五花八门,ASD患者的行为表现,取决于发育阶段、发病年龄、当时得到的介入措施以及个体本身的差异。[161][159]最后,有许多疾病其症状可能类似ASD,包括智力障碍、听力障碍、特定型语言障碍[162](如Landau–Kleffner综合症)[163]、注意缺陷多动障碍、焦虑障碍和精神障碍。[164]此外,自闭症也会使其共伴精神疾病(例如重性抑郁障碍)更加难以诊断。[165]
理想中应由整组临床医生(例如儿科医生、儿童精神病医生、儿童神经科医生)根据求诊者、照顾者、其他医疗专业人员提供的资讯,综合临床团队的直接观察得出ASD诊断。[166]孤独症谱系障碍的评估通常开始于儿科医生或家庭医生搜集个案的发育史并进行体检。必要的话可以将个案转介给主治ASD的医生,他们会用标准化工具来观察及评估个案的认知、沟通、家庭及相关因素,并考虑其他可能有关的疾病。[162]儿科神经心理学家经常负责评估行为及认知能力,以利后续诊断以及教育介入措施的建议。[167]确诊ASD后可能还有进一步的检查,例如临床遗传学评估,特别是当其他症状已经暗示著基因问题。[168]虽然高达 40%的ASD案例可能与遗传原因有关,[169]但目前并不建议对每个确诊ASD的患者都进行全面基因检测。英美针对ASD患者之共识指南中,基因检测项目也只限于高分辨率染色体及X染色体易裂症。此外,代谢及神经成像检查也不是ASD的常见诊断项目。[168]
患者确诊ASD时年龄并不相同。有时甚至在18个月就被诊断出ASD,只是两岁前的ASD诊断或许并不可靠。[160]如果到了三岁还维持确诊,情况就越来越固定。也就是说,确诊ASD的一岁儿童之后持续有症状的,其可能性低于确诊ASD的三岁儿童。[170]此外,确诊年龄可能也取决于ASD的严重程度,较严重的ASD症状似乎更可能在早期被诊断出来。[171]个案取得医疗保健的问题(例如就诊费用或延后就诊)通常会导致延迟确诊。[172]英国国家儿童自闭症计划建议,从初次求诊到完成诊断及评估不应超过30周,可是在实务上很少能如此迅速。[162]由于缺乏适当的医疗服务、诊断标准的扩大及人们对孤独症谱系障碍的认识加深,导致近年来越来越多的人,在成年后才被诊断为ASD。成人ASD是种特别的挑战,因为缺少了至关重要的个案准确发育史,而且患有ASD的成年人有时已经习得因应策略(伪装),可能让成人患者使获得诊断变得更加困难。[173]
孤独症谱系障碍的表现及诊断可能因个案之性别及性别认同而有差异。大多数研究都没有区分性(sex)和性别(gender)的影响。[174]有些证据显示患有ASD的女性往往较少表现出重复行为,[175]也可能比患有ASD的男性更擅于伪装,包括让自己表现出正常的面部表情及眼神交流。[176]行为表现及性别刻板印象上的差异,可能造成及时诊断女性ASD更大的挑战。[174][175]相当高比例的ASD女性可能被误诊、或是延迟很久才确诊,或者根本就没有被诊断出来。[175]
到了2019年,心理学家通常要等孩子开始出现ASD的明确倾向,然后才使用各种心理评估工具来加以评量。[177]其中《自闭症诊断会谈修订版(ADI-R)》和《自闭症诊断观察量表(ADOS) 》被认为是评估ASD儿童的“黄金标准”。[178][179]ADI-R 是一种半结构化的家长访谈,借由孩子的当前行为及过去发展历程来评估其自闭症症状。ADOS是针对ASD症状的半结构化互动式评估,针对标准化情境下的种种自发行为(例如眼神接触)加以评估,以衡量个案的社交、沟通及社交沟通综合能力。[180]其他的问卷(例如《儿童自闭症评量量表(CARS)》、《自闭症治疗评估清单(ATEC)》)及认知功能测试(例如《毕保德图片词汇测验(PPVT)》)通常也包含在ASD评估组合中。有时也运用《社交及沟通障碍诊断访谈》(DISCO)。[181]
疾病筛检
[编辑]大约有一半的ASD儿童父母在18个月大时注意到其孩子之异常行为,约五分之四的父母在孩子24 个月大时才发觉。[170]如果孩子没有经历下列里程碑,也仅是表示“需要做进一步的评估。拖延转诊而不进行相关检测,可能会推迟早期诊断及治疗,并影响个案的长期发展”。[82]
- 到6个月时对于唤名还是没有反应(或眼神直接注视)。[182]
- 到12个月时还没有牙牙学语。
- 到12个月时还不会打手势(指指点点、挥手等)。
- 到16个月时还不会说单字。
- 到24个月时还没自行说出双字词(单纯模仿言语不算)。
- 丧失语言或社交能力(不限年龄)。
日本的做法是在孩童18个月及24个月时,使用正式的ASD疾病筛检测试来进行普遍筛查。相较之下,英国只针对家人或医生认为可能有自闭症迹象的儿童进行筛查。目前还不清楚哪种方案更有效率。[124]英国国家疾病筛检委员会(UK NSC)不建议对幼童进行ASD普查,主要是担心年纪较轻时其误诊可能性较高,也缺乏早期介入是否有效的证据。[183]美国的专家及专门机构则是对于3岁以下孩童的ASD筛查方案尚未达成共识。[183][184]
ASD筛查工具包括《修正版幼儿自闭症检查表(M-CHAT)》、《自闭症早期特征问卷(ESAT)》等;M-CHAT 及其前身《幼儿自闭症检查表(CHAT)》施测于18-30个月儿童的初步数据显示,这些量表很适合运用在临床状况,具备了低灵敏度(较不会将确诊者误诊为未确诊)以及良好的特异度(较不会将确诊者误诊为其他疾病)。[170]在这些测试前先进行“广泛发育障碍筛查”可能会让结果更准确。[185]此外,筛选工具的设计可能因为不同文化的行为规范而不同,例如符合A文化的眼神交流可能不适用于B文化。[186]虽然ASD基因检测实务上并不常用,但某些情况下可以考虑之,例如有神经方面的症状或畸形特征的儿童。[187]
误诊
[编辑]将神经发育典型的孩童误诊为自闭症的比例很高,有18–37%被诊断患有ASD的孩童后来被取消诊断。我们不能只用ASD治疗有效来解释这种高漏诊率。根据父母回报,孩童失去ASD诊断的最常见原因是孩子最新状况改变(73.5%),例如被其他诊断所替代。另外的原因还有:先把孩子当作确诊以利接受ASD治疗(24.2%)、ASD治疗成功或有进步(21%),以及父母不同意初步诊断 (1.9%)。[184]
后来失去ASD诊断的孩童中,有很多随即被诊断为其他类型的发育障碍,最常见的是ADHD,感觉障碍、焦虑障碍、人格障碍或学习障碍也有。[184]通常被误诊为ASD的神经发育及精神障碍有:特定语言障碍、社交沟通障碍、焦虑障碍、反应性依恋障碍、认知障碍、视力障碍、听力丧失及正常行为变化。[188]类似ASD特征的行为变化是:重复行为、对日常生活变化过于敏感、过于专注的兴趣及踮脚尖行走。只要没有造成个案功能受损,这些就被当成是正常行为变化。男孩子更有可能出现重复行为,特别是当他们兴奋、疲倦、无聊或压力大时。区分行为变化或ASD行为的方法是评估孩童抑制这类行为的能力,以及睡眠时有没有出现这些行为。[166]
合并症
[编辑]自闭症经常和其他疾病合并发生[124]。合并症可能会随着个案年龄渐长而发生,并造成ASD患者的病情恶化,让介入及治疗更加困难。诊断上不容易区分ASD及其他疾病,因为ASD征兆经常与其他疾病的症状重叠,而 ASD的特点更让传统诊断程序变得困难。[189][190]
- ASD患者最常见的身体状况是癫痫发作或癫痫症,发生比例约为11-39%。[191]风险程度随年龄、认知水平及语言障碍类型而变化。[192]
- 结节性硬化症是显性染色体遗传疾病(在大脑或其他重要器官出现良性肿瘤),ASD患者中有1-4%罹病。[193]
- ASD最常见的合并症是智力障碍。随着被诊断为高功能自闭症患者的人数越来越多,智力障碍的合并症比例有下降的趋势。2019年研究,约有30-40%的ASD确诊者也并发智力障碍。[194]最近研究显示,相较于单纯ASD患者,合并发生智力障碍的ASD患者更容易出现罕见且有害的基因突变。[195]另外有许多造成智力障碍的基因综合症也可能是ASD的合并症,包括X染色体易裂症、唐氏症、普瑞德威利综合症、安格曼综合症、威廉氏综合症[196]、支链酮酸脱氢酶激酶(BCKDK)缺乏症[197][198]及SYNGAP1相关智力障碍。[199][200]
- ASD患者中也很常出现学习障碍。大约25–75%的ASD患者都有某种程度的学习障碍。[201]
- ASD也和各种焦虑障碍合并发生,整体的合并症概率约为7–84%。[202]这在ASD孩童中很常见;目前没有确切数据,但研究报告指出ASD孩童之焦虑障碍患病率约在11–84%之间。有些焦虑障碍之症状用ASD就可以充分解释,有些则很难与ASD症状区分开来。[203]
- ASD患者合并发生抑郁症的比例为4–58%。[204]
- 人们还在持续研究并争议ASD与精神分裂症之间的关系。最近的统合分析已经检查了两者间可能共有的基因、环境、感染及免疫风险等因素。[205][206][207]氧化应激、去氧核糖核酸的损伤及修复,目前被认定在两者的病原及病理上发挥著作用。[208]
- ASD的缺陷通常会连结到行为问题,例如难以遵循指导、不擅长合作或按照别人的方式做事。[209]类似ADHD的症状也可以作为ASD的诊断依据。[210]
- 感觉处理障碍(SPD)也是ASD的合并症,概率为42–88%。[211]
- 有些阿斯伯格综合症(AS)患者(单样本中占26%)[212]从青春期开始符合类分裂型人格障碍的标准,其特征是对社会关系缺乏兴趣,容易过着孤独或受人庇护的生活方式、神秘、情感冷淡、疏离或冷漠。[212][213][214]传统上把AS称为儿童时期精神分裂症。
- 遗传性疾病:大约10–15% ASD个案具有明确的孟德尔(单基因)病症、染色体畸变或其他遗传综合症。[215]
- 有些遗传性代谢缺陷与ASD症状有关,例如苯丙酮尿症。[216]
- 胃肠道问题(GI diseases)是ASD患者极为常见的并发疾病。[217]因为ASD患者的社交障碍、易怒、语言障碍、情绪变化行为问题及睡眠问题通常更为严重。[218][219]
- 大约有三分之二的ASD患者在童年的某个时期会出现睡眠障碍。最常见的症状是失眠:例如难以入睡、夜间或清晨频繁醒来。睡眠问题与行为困难及家庭压力有关,在临床上通常是ASD主要诊断之外的关注重点。[220]
个案管理
[编辑]早期的言语治疗或应用行为分析可以帮助有自闭症的儿童学习自我照顾、社交及沟通技能[4][221]。目前没有可以治愈自闭症的方式[4],不过已有孩童复原的案例[222]。自闭症的儿童在长大成人后可以独立生活的案例并不多,不过仍有些成功的例子[223]。目前已有发展一种自闭症文化,有些自闭症者是希望康复,而有些认为自闭症只需视为个体差异,不应该当成是疾病[224][225]。
严格来说,自闭症并无治疗方法;[226]虽然好好处理ASD的共伴疾病很重要,[227]很多人还是不建议把治愈自闭症当成目标。[228][229]直到2022年,自闭症都是无法治愈的疾病,也不知道有任何方法可以明显减缓自闭症引起的大脑突变,虽然那些只需要轻度支持甚至不须帮助的患者,好像随着日子过去症状都有减轻,造成了痊愈的假象。[230][231][232]好几种介入措施都能帮助自闭症孩童,[233]但没有哪一种是最好的,通常都要根据个案需求来拟定疗育策略。[234]对ASD之行为的或发展的介入在方法学上还有许多争议,因此还无法获得临床疗效的明确结论;[235]即使如此,“循证(evidence-based)介入”措施还是有所进展。[236]
治疗ASD的主要目标是减轻患者相关缺陷、减少其家庭的痛苦,并提高患者生活品质及独立能力。一般而言,当患者智商较高,对于治疗方法会更有反应、改善结果也比较好。[237][238]无论是行为、物理、心理、职能或学业的介入,皆能帮助ASD患者习得重要的生活技能、社交沟通及语言技巧,让他们较能独立生活;[239]也期盼通过治疗可以减少患者在别人眼中的挑衅行为,同时强化其优势能力。[240]
强力密集的特殊教育方案以及生命早期的行为治疗,皆可以帮助ASD孩童去学习生活自理、语言及就业上的技能。[234]虽然不同ASD孩童其“循证介入”方法各不相同,但大多数都运用心理教育方法以期尽可能地减少问题行为,同时强化认知、沟通及社交的能力。目前虽然还没发现有助于缓解ASD核心症状的药物,但是有药物可以治疗其伴随症状,例如脾气爆、注意力不集中或重复行为类型等。[241]
非药物之介入措施
[编辑]密集强化的特殊教育或补救教学以及生命早期行为治疗,可以帮助ASD孩童习得生活自理、社交及就业的技能。方法有应用行为分析(ABA)、发展模型、结构化教学法(TEACCH)、言谈及语言治疗、认知行为疗法(CBT)[242]、社交技能治疗和职能治疗。[243]上述方法中,介入措施要么全面地处理自闭症特征,要么聚焦在特定缺失区块。[236]一般在疗育ASD患者时,可以采取具体策略将资讯有效地传递给ASD患者。尽可能多使用社交互动也是打破ASD患者人际往来之心防的好方法。还有研究发现,使用语义分组法(按照典型概念来分类字词)也可促进学习。[244]
人们越来越关心自闭症孩童循证介入措施的发展。早期介入大概有三个理论架构:应用行为分析、发展式社会语用模型(DSP)及认知行为疗法。[242][238]尽管ABA疗法有充足的实证基础,特别是家庭场景为主的早期强化疗法,但ABA的有效性可能受限于诊断之严重程度以及ASD个案智商高低。[245]《临床儿童及青少年心理学期刊》列出两种“公认有效”的ASD孩童早期介入方法:对个案全面施行ABA疗法以及由教师操作的ABA结合DSP重点疗法。[238]
还有一种被证明有效的循证介入方法是“培训家长模式”:训练家长自行操作各种ABA及DSP技巧。[238]目前已经开发出许多明确的DSP方案,让家长可以遂行早期介入时采用。
美国儿科学会(AAP)2015年10月提出了针对3岁以下ASD孩童的早期介入新循证指南,强调下列三者都很重要:发展方法及行为教学的早期介入、父母及照顾者提供患者支持,以及ASD核心症状与伴随特征并重。[246]但是考科蓝文献回顾(Cochrane Reviews)有文章指出,并没有证据证明早期强化行为介入(EIBI)可以有效地减少多数自闭症孩童的ASD相关行为问题,但是EIBI确实有助于提高智商及语言能力。考科蓝文献回顾承认这可能是因为目前的EIBI研究质量较低所致,故建议志愿者应根据其临床判断及个案家庭之特质来评鉴EIBI。目前尚未发现EIBI疗法的副作用。[247]从同一个数据库的整合分析来看,由于ASD症状严重程度不一,各种早期ABA介入的成效也五花八门,需要更多对照组及控件来进行爬梳,方能找出明确成效。[248]
总之ASD治疗主要是针对两大核心症状(社交沟通缺陷及局限的重复行为)聚焦在行为及教育侧面加以介入。如果行为方法实施后症状仍然存在,则建议使用药物来减轻特定症状或共伴病征,如局限的重复行为(RRBs)、焦虑、抑郁、过动与注意力不集中及睡眠障碍等。[249]举例来说,可以用褪黑激素来缓解睡眠障碍。[250]
针对ASD孩童的社交沟通缺陷,坊间也有很多种父母共学行为疗法,但这些方法对于RRB的疗效则不清楚。[251]
药物介入措施
[编辑]当行为治疗失败时,可用药物来控制ASD症状以协助患者融入家庭或学校。药物也可用来治疗相关的健康状况,例如过动症或焦虑障碍。[252]但是不建议患者长期使用药物来处理ASD核心症状。[253]美国ASD孩童有超过一半被开立了精神药物或抗癫痫药,最常见的药物类别是抗抑郁药、兴奋剂和抗精神病药。[254][255]非典型抗精神病药物如理思必妥及阿立哌唑经美国食品药物管理局(FDA)核准用来治疗攻击或自伤行为。[241][256]即使如此,还是必须衡量药物的效果与副作用,ASD患者之用药反应可能不典型。药物副作用可能有体重增加、疲倦、流口水及攻击性。[241]新数据显示理思必妥及阿立哌唑对于局限和重复行为(即自我刺激,如拍打、旋转、运用身体许多部位的复杂动作)有正面效果,[253]但由于样本数小、研究重点差异以及可能的副作用,不建议使用抗精神病药作为RRB之主要治疗方法。[257]选择性血清素再摄取抑制剂(SSRI)类型的抗抑郁药,如氟西汀和氟伏沙明,已被证明可有效减少重复及仪式行为,而兴奋剂哌醋甲酯对某些患有注意力不集中或过动症的共病ASD孩童是有帮助的。[234]至于药物治疗对青少年及成人ASD患者的效果或安全性之可靠研究很少。目前还没有药物可以缓解自闭症的社交及沟通障碍症状。[241]
高压氧治疗
[编辑]2009年Rossignol和他的同事,收集来自美国六个医疗中心,研究62位,年龄约2-7岁的儿童,评估高压治疗对于自闭症的疗效。在压力舱中给于1.3个大气压和24%的氧气,单次高压处理时间为1小时,每天治疗两次(间隔至少4小时),每周5天,连续4周,每个儿童总共40次的治疗方法。这是第一个随机,对照,双盲试验。相比于对照组,治疗组在整体运作,接受语言,社会交往,眼神接触,和感官/认知意识有显著改善。[258]
替代医学
[编辑]人们研究了许多种替代医学来治疗ASD患者,其中有些疗法会对ASD患者造成伤害。[243]2020年针对ASD成年患者所进行系统式评估发现“正念疗法”可以减轻患者的压力、焦虑、思维纠结、愤怒及攻击倾向,通过觉察改善心理健康。[259]
虽然人们常把“无麸质无酪蛋白(GFCF)疗法”当作ASD患者的替代疗法,但是到2018年为止尚无充分证据建议将此纳入标准疗法。[260][261][262]2018年的审查报告指出:GFCF疗法对于特定ASD孩童可能有效,例如已患有食物不耐症、食物过敏,或是有食物不耐标记的孩童。报告结论是:疗法施行时间要够长才能改善ASD症状。[260]另外,有少数证据支持无麸质饮食可以改善对麸质敏感之个案的自闭症行为。[263][264][265]
自闭症儿童偏爱非正常食物可能导致骨皮质厚度减少,当他们采取无酪蛋白饮食时,钙及维生素D摄取量不足的风险更大;此外,ASD患者其骨骼发育不良也与缺乏运动及胃肠道疾病有关连。[266]2005年,不当的螯合疗法导致一名5岁ASD孩童死亡。[267][268]目前不建议ASD患者使用螯合剂,因为其风险超过潜在好处。[269]还有一种未经医学实证的“根治自闭症症状疗法”(CEASE therapy),充其量是混合了顺势疗法、营养补充及疫苗排毒法的伪科学。 [270]
考科蓝的最新回顾发现音乐治疗可能有助于改善ASD患者的社交互动、语言及非语言交流技能。[271]对ASD孩童施行高压氧治疗也早有相关研究。[272]另外还发现宠物疗法也有正面效果。[273]
预防
[编辑]虽然因为怀孕期间感染风疹导致的自闭症病例不到 1%,[274]接种德国麻疹疫苗还是可以预防自闭症发生。[275]
预后
[编辑]目前还没有证据显示可以治愈自闭症。[234][124]自闭症症状可以减轻,偶尔甚至看不出患者确诊ASD;[276][277]这种情况有时会在强化治疗后出现,[278]但不必然,发生几率也不清楚,[279]依照未筛选案例来看似乎有3%~25% 的可能。[276][277]虽然ASD核心症状多会持续存在,但随着患者年龄渐长,症状会有所减轻。[103]ASD个案如果可以在6岁前掌握语言、智商超过50,并拥有就业市场常备的技能,可以预期患者未来发展会比较好;而严重的ASD患者几乎不太可能自立生活。[280]
许多自闭症患者从孩童过渡到成年时会面临重大障碍。[281]相较于一般人,ASD患者失业率更高,甚至从未找到工作。据统计,20多岁的ASD患者中约有一半没有工作;[282]有的成年ASD患者也无法自立生活。[223]
学业表现
[编辑]此条目论述以美国为主,未必有普世通用的观点。 |
美国学生中确诊并获得自闭症服务资格的儿童人数持续增加,从1991-1992学年的5,413位增加至2010-2011学年370,011位;[283]到了2020-2021学年,《残障教育法案》(IDEA)纳入保护的自闭症患者(3 至21岁)约有 828,000位。[284]根据美国卫生及公众服务部2014年的统计,大约每 68 位儿童中就有1位在8岁时被诊断患有孤独症谱系障碍,尽管通常发病年龄在 2~4 岁之间;[283]到了2018年,美国疾病管制与预防中心的“自闭症及发展障碍监测(ADDM)网络”统计大约每44位儿童中就有1位在8岁时确诊ASD。[285]
学校里确诊ASD的学生越来越多,对于教师、校内心理师及学校其他专业人员形成重大挑战:制定一致的做法以便尽可能地支持ASD学生的社交及认知发展。[283]虽然对于ASD孩童的评估、鉴别及支持服务已经有相当多的研究,但是这些研究如何适用在学校层面,还需要进一步研究,所得出的适于ASD患者之支持服务,可以为校内心理师及教育从业人员提供宣导和服务时的具体方向,从而改善ASD学生的校内成绩。[283]
由于过度依赖流行的或众所皆知的介入措施及课程,想替ASD学生订出最佳介入措施并加以运用本身就是一大挑战。 有证据表明介入措施虽然对某些学生有效,但无法具体指出对于哪些类型的学生、在何种教育环境下(一对一、专门教学或一般教育),以及针对哪些特定缺陷,什么介入措施才算有效。[283]还需要更多研究来确定哪些评估方法能够最有效地界定ASD学生之教育需求水平。另外一提,生活在资源丰富环境中的儿孩童往往比生活在资源匮乏环境(例如乡下地方)的孩童更早获得介入措施。[286]
自闭症学生学习表现上遇到的困难,在于一般学校教育倾向于概括学习。[43]每个学生的学习方式都不同,确诊ASD的学生亦然。为了促进学习,通常会为不同能力的学生安排住宿。其既定学习模式各以不同的方式运作,并可进行调整以期尽可能地支持每位学生的教育发展。[287]
在美国,教育一名ASD学生的费用约为20,600美元,而一名普通学生约花费12,000美元。[288]
虽然会聚焦于ASD孩童早期介入的主要都集中在美国等高收入国家,但是需求最迫切的ASD孩童反而大多在中低收入的国家,相关研究亦显不足;只知道这些国家中,学校及社区中的非专业人士有成功实施某些全面照护方案。[286]
就业状况
[编辑]此条目论述以美国为主,未必有普世通用的观点。 |
美国20多岁年龄层的自闭症患者约有一半失业,其中拥有硕博士学位者失业的约有三分之一。虽然雇主表示雇用ASD患者时难免会担心他们的生产力及管理问题,但实际雇用过ASD患者的雇主倒是有正面评价:ASD患者在记忆力、工作细节、以及重视员工规则和程序上,高出平均水平。[289]ASD患者的经济压力主要是由于他们在就业市场上被认为生产力较低。[290]从残障者社会模式来看,ASD患者会失业多半是由于雇主及同事不够理解他们所致。[291][292]在现行的多元教育训练中增加ASD相关内容,有助于澄清众人偏见、支持全体员工,并帮助ASD患者获得职涯机会。[293]至2021年,大部分美国雇主在雇用ASD员工的潜力持续增加。美国最受瞩目的ASD倡议计划“自闭症上工”,实施在美国前20大企业时大多有所成长,虽然获益者占整体ASD成年患者的比例还是很少;而且特殊聘雇方案主要仍局限在入门等级的技术职位(例如软件测试员),而且限定在已拥有专业技术的人员。另外一个现象是大学、非营利组织及基金会这些理应会优先考虑聘用ASD患者的单位,在招募ASD人才上反而让私人企业抢先一步。想打造ASD友善就业环境,不只是改善灯光及声响而已,还要形塑更有耐心及弹性的职场文化。“活用ASD员工的天赋”也是可以钻研的方向。[294]
另一种方法是有系统地考虑神经发展多样性并纳入人才库:借由透明、公开、客观、双向沟通等方式,灵活且客观地进行组织开发,将可以改善所有员工的工作体验,也就同时照顾到自闭症员工。[295][296]
诊断标准
[编辑]DSM-5-TR
[编辑]相较于DSM-5,2022年3月出版的《精神疾病诊断准则手册第五版修订版》(简称DSM-5-TR)修改了孤独症谱系障碍的文本描述,以反映最新文献及知识进步,另外最显著的不同就是修改了诊断标准A。[297]有专家认为这些更动固然提升了文本定义的清晰度和细微差异处,但是对于诊断实务恐怕帮助不大。[298]
特征项目
[编辑]DSM-5-TR还增列了某些特征项目,供医师诊断上分级(需要非常重大的支持、需要重大支持、需要支持)与注记之用。例如:是否伴随智力障碍;是否伴随语言障碍;是否与已知的基因状况、医疗状况或环境因素相关;是否与神经发育、精神或行为问题有关;是否伴有紧张性抑郁障碍。[3]
社会及文化
[编辑]自闭症文化正在形成,自闭症权利运动及提倡神经多样性运动也同时兴起,倡议者认为自闭症应该被当成是个体间的差异,要适应之而非治愈之,[299][300][301][302][303]尽管倡议者中仍有少数ASD患者继续接受治疗。[304]全世界的自闭症相关社会运动有:世界提高自闭症意识日、自闭症星期日、自闭症自豪日、自闭症友善会议(Autreat) 等。[305][306][307][308]社会科学学者也研究ASD患者,以期能在“自闭症的文化侧面、跨文化比较,以及社会运动研究”上学到更多。[309]许多ASD患者也在各自的领域上展露头角。[310]
2007年12月24日联合国大会通过决定,从2008年起将每年的4月2日定为世界自闭症意识日,以提高人们对于自闭症及相关研究和诊断的关注。每年的四月份是国际自闭症意识之月(Autism Awareness Month)。[311]
神经多样性运动
[编辑]某些自闭症患者及研究者提倡人们可以转换态度,尽量把孤独症谱系障碍当成某种差异,而不是某种疾病要加以治疗或治愈。[312][313][314]但是有批评者感叹某些自闭症运动团体的意见可能会造成代沟。[315][316][317][318]
神经多样性运动及自闭症权利运动,是残障人士权利运动潮流下的社会运动,着重神经多样性概念,将ASD视为人类大脑自然变异的表征,而非需要加以治疗的疾病。[301]自闭症权利运动倡导人们要更加接受自闭症的行为;疗法应聚焦在如何和ASD患者应对,而不是让ASD患者去模仿神经典型者的行为;[319]大家应该将自闭症人士当成少数群体。[319][320]这些倡导者相信ASD是基因的现象,大家应该接受ASD同样是人类基因组的自然展现。然而这些运动也受到批评。常见的反对论点是:倡议者多半是高功能ASD患者,要嘛是阿斯伯格障碍患者,要嘛是自认患有ASD,并不能代表低功能自闭症患者的观点。[320][321][322]
神经多样性的概念还有争议,许多自闭症倡议者及研究团体间的看法常有冲突,尚未形成共识。[316][317]
照顾者
[编辑]照顾自闭症孩童的家庭要面对照料患者之外各式各样的压力。[50][323]患者的父母可能抗拒诊断结果而无法寻求合适的照料方式;他们通常对诊断抱持负面看法,因而情绪纠结。[324] 亦有研究显示,在孩子确诊后,父亲的父亲角色和责任发生了变化,向更平等的性别关系和更关爱的父亲角色转变。父亲的受教育水平、职业地位和家庭收入状况对这种转变有影响。另一方面,父亲在寻求帮助和表达情感方面受到男性气概文化的压力。[325]由于85%的ASD患者难以独立生活,50岁以上的患者父母,超过一半仍与患者同住。[326]还有研究发现,照顾自闭症儿童的父母其收入下降。[327][328]照顾者的人际关系也会面临挑战。[329]
法律保障
[编辑]对自闭症患者的歧视
[编辑]香港:香港部分保险公司如保柏(Bupa)亦禁止自闭症人士投保旗下的保险,或不受保自闭症及相关症状的治疗。针对自闭症的歧视未必是针对自闭症人士本身,可以是针对与自闭症相关的持分者,例如服务自闭症人士的机构,2018年,有传媒揭发新鸿基集团及嘉里集团拒绝社会福利署要求,在长沙湾润发货仓发展项目预留空间作为自闭症服务中心,他们认为“规划中地盘有不少管理条件限制,在设计社福设施时有所局限”,香港耀能协会表示自闭症服务中心与一般青年中心无异,不会为附近居民带来治安或环境上的滋扰,认为新鸿基地产及嘉里集团的理据不成立。[331]
流行病学研究
[编辑]截至2015年[update]全球自闭症患者约有2480万人[332]。在2000年代时,全世界罹患自闭症的比例约是每一千人中有1至2名[333]。截至2017年[update],在发达国家约有1.5%的儿童诊断是有孤独症谱系[334],而美国在2000年的比例是0.7%[335]。男孩拥有自闭症几率比女孩高出4到5倍[335],自1960年代时,诊断为自闭症的比例大幅增加,部分原因可能是人类饮食习惯的改变[333]。
2005年的一项调查估计,每1,000人中有约6.0-6.5人带有孤独症谱系的倾向。孤独症谱系的各个项目里,待分类的广泛性发育障碍(PDD-NOS)是绝大多数,自闭症只占1.3人,阿斯伯格综合征为0.3人,非典型的儿童期崩解症和Rett综合征更罕见[336]。但由于其统计数据不足,有说这数字可能是低估[337][338]。从1990年代到2000年代初期,关于自闭症的报告一直大幅上升。这相当原因是诊断指引、转介模式、服务提供、病人诊断时的年龄、公众关注等各方面的转变[339],也可能存在未知的环境因素[340]。
不同看法
[编辑]虽然精神医学传统上将自闭症归类为神经发育障碍,但许多自闭症患者、大多数自闭症倡导者以及越来越多的研究人员,倾向于将自闭症当作神经多样性的部分,即人类在进行思考与经验时所自然呈现的多样性,各有其优势、差异及劣势。[341]从自闭症权利运动提倡的观点来看,不该把自闭症当成病态,但这并不排除自闭症患者确有缺陷或需要高度支持及介入。[11]这种相对积极与全面的自闭症观点,造成自闭症患者、倡导者、慈善机构、研究人员及医疗人员之间程度不一的摩擦。[342][343]
注释
[编辑]- ^ “自闭症”一词也用来翻译过去的如DSM-Ⅳ-TR(2000)中的“autistic disorder”诊断,比目前的“孤独症谱系障碍”诊断涵盖范围小[6][7]。为免混淆,本条目称“autistic disorder”为“原‘自闭症’”并加注英文,且参照目前中文文献的处理,对“autism spectrum disorder(简称autism或ASD)”一般使用“孤独症谱系障碍”的全称,不简称“自闭症”。
- ^ “广泛性发育障碍”是包含了原“自闭症”(autistic disorder)、Asperger综合症等在内的多种疾病的大类,最新的精神障碍诊断标准已不再将该大类下的疾病视作独立的实体,而是统属“孤独症谱系障碍”一种疾病[2]。详见名称与分类。
- ^ ICD中文版并不将“Asperger”音译成汉语,而是直接保留原文[26]。中文学术文献中也可见此用法[27]。
- ^ 例如风疹
- ^ 例如丙戊酸、酒精;可卡因、农药及空气污染
参考文献
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Current literature knowledge provides evidence that ketogenic and casein/gluten-free diet may have their own place in our reserve for the therapeutic management of specific subsets of children with autism. ... More clinical studies about the effect of gluten/caseinfree diet in these patients are available. However, available data arise from studies with small sample size and are still controversial. In general, despite encouraging data, no definite proof still exists. Under this view, the use of therapeutic diets in children with autism should be restricted to specific subgroups, such as children with autism and epilepsy or specific inborn errors of metabolism (ketogenic diet), children with known food intolerance/allergy or even children with food intolerance markers (gluten- and casein-free diet). Their implementation should always be guided by health care practitioners.
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autism spectrum disorders (ASD) have been hypothesized to be associated with NCGS [47,48]. Notably, a gluten- and casein-free diet might have a positive effect in improving hyperactivity and mental confusion in some patients with ASD. This very exciting association between NCGS and ASD deserves further study before conclusions can be firmly drawn
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autism spectrum disorders (ASD) have been hypothesized to be associated with NCGS [47,48]. Notably, a gluten- and casein-free diet might have a positive effect in improving hyperactivity and mental confusion in some patients with ASD. This very exciting association between NCGS and ASD deserves further study before conclusions can be firmly drawn
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外部链接
[编辑]
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台湾
- 中华民国自闭症总会 (页面存档备份,存于互联网档案馆)
- 中华民国自闭症基金会 (页面存档备份,存于互联网档案馆)
- 中华民国自闭症适应体育休闲促进会 (页面存档备份,存于互联网档案馆)
- 中华民国自闭症者权益促进会 (页面存档备份,存于互联网档案馆)
- 台湾肯纳自闭症基金会 (页面存档备份,存于互联网档案馆)
- 星星儿社会福利基金会 (页面存档备份,存于互联网档案馆)
香港
- 星之国 - 香港自闭症讨论区及资讯平台
- 香港自闭症人士福利促进会 (页面存档备份,存于互联网档案馆)
- 香港自闭症联盟 (页面存档备份,存于互联网档案馆)
- 匡智会 (页面存档备份,存于互联网档案馆)
参见
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