Autism

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  • 这是什么样的一种病呢?一部很著名的电影rain man详细刻画了这一类患者的特征:男猪哥哥从小患有这种病,他不合群,与人接触很恐惧,有很多复杂的刻板行为,比如不停自言自语,一定要每天吃同样的食品,甚至数量都不能改变。  \n
  • 孤独症概念是1943年由一个美国儿童精神病医生提出,他报告了其从精神病的角度观察到的11名儿童所具有的异常的特点:他们拒绝交往;不说话或以自己的方式喃喃自语;对周围环境有着相当或极端固定的 要求。他把这些症状称之为“情绪交往的 孤独症障碍”及“婴儿孤独症”。\n
  • 现今,关于孤独症研究有相当程度的进展,人们普遍认识到孤独症是一种发生在儿童早期的广泛性发育障碍性疾病,其发病机制有很大的遗传因素,于3岁前起病, 2-5岁时孤独症行为最为明显的阶段,   该症主要表现为三大类核心症状,即:社会交往障碍、交流障碍、兴趣狭窄和刻板重复的行为方式,此外,多数患儿伴有不同程度的智力障碍。\n
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  • 世界上没有两个完全一样的孤独症患者,表现都是因人而异的。\n该症主要表现为三大类核心症状,即:社会交往障碍、交流障碍、兴趣狭窄和刻板重复的行为方式,此外,多数患儿伴有不同程度的智力障碍。\n    1、社会交往障碍\n    即孤独离群,不会与人建立正常的联系。有的患儿从婴儿时期起就表现这一特征,如从小就和父母亲不亲,也不喜欢要人抱,当人要抱起他时不伸手表现期待要被抱起的姿势,不主动找小孩玩,别人找他玩时表现躲避,对呼唤没有反应,总喜欢自己单独活动,自己玩。有的患儿虽然表现不拒绝别人,但不会与小朋友进行交往,即缺乏社会交往技巧,如找小朋友时不是突然拍人一下,就是揪人一下或突然过去搂人一下,然后自己就走了,好像拍人、揪人不是为了找人联系而只是一个动作,或者说只存在一个接触的形式,而无接触人的内容和目的。他们的“孤独”还表现在对周围的事不关心,似乎是听而不闻,视而不见,自己愿意怎样做就怎样做,毫无顾忌,旁若无人,周围发生什么事似乎都与他无关,很难引起他的兴趣和注意,目光经常变化,不易停留在别人要求他注意的事情上面,他们似乎生活在自己的小天地里。另外他们的目光不注视对方甚至回避对方的目光,平时活动时目光也游移不定,看人时常眯着眼,斜视或用余光等,很少正视也很少表现微笑,也从不会和人打招呼。\n    2、交流障碍\n    (1)非言语交流障碍。该症患儿常以哭或尖叫表示他们的不舒适或需要。稍大的患儿可能会拉着大人手走向他想要的东西缺乏相应的面部表情,表情也常显得漠然,很少用点头、摇头、摆手等动作来表达自己的意愿。\n    (2)言语交流障碍。大多数患儿言语很少,严重的病例几乎终生不语,会说会用的词汇有限,并且即使有的患儿会说,也常常不愿说话而宁可以手势代替。有的会说话,但声音很小,很低或自言自语重复一些单调的话。有的患儿只会模仿别人说过的话,而不会用自己的语言来进行交谈。不少患儿不会提问或回答问题,只是重复别人的问话。语言的交流上还常常表现在代词运用的混淆颠倒,如常用“你”和“他”来代替他自己。\n    3、兴趣狭窄及刻板重复的行为方式\n    孤独症儿童常常在较长时间里专注于某种或几种游戏或活动,如着迷于旋转锅盖,单调地摆放积木块,热衷于观看电视广告和天气预报,面对通常儿童们喜欢的动画片,儿童电视,电影则毫无兴趣,一些患儿天天要吃同样的饭菜,出门要走相同的路线,排便要求一样的便器,如有变动则大哭大闹,难以适应新环境,多数患儿同时还表现无目的活动,活动过度,单调重复地蹦跳、拍手、挥手、奔跑旋转,也有的甚至出现自伤自残,如反复挖鼻孔、抠嘴、咬唇、吸吮等动作。\n    4、大多智力发育落后及不均衡\n    多数智力发育比同龄儿迟钝,只有20-25%的患儿智力正常或接近正常。但其在智力活动的某一方面有的又出奇地好,令人不可思议,有不少患儿的机械记忆能力很强,尤其对文字符号的记忆能力。如有位3、4岁患儿特别喜欢认字,见字就主动问念什么,并且只问一次就记住,为此他能毫不费力地流利地阅读儿童故事书,说明他掌握不少词汇,但当他要用词来表达自己的意思时则存在明显的困难,说明他们存在理解语言和运用语言能力方面的损害。\nAutism is a neurodevelopmental disorder in which the clinical presentation can vary with the severity of the impairment. Despite the variability in the clinical pattern, all children with autism manifest some degree of impairment in the areas of reciprocal social interaction, communication, and restrictive and repetitive stereotypical patterns of behavior, interests, or activities. Although there is no pathognomonic symptom or behavior seen in all children with autism, most children have some impairment in joint attention or pretend play. Joint attention is the ability to use eye contact and pointing for the purposes of sharing experiences with others. It is a skill that typically develops by 18 mo. Other precursor skills to joint attention that are often absent in children with autism are protoimperative pointing (the use of pointing to obtain an object of desire) and protodeclarative pointing (the use of pointing to an object of interest simply to have another share in the interest with him or her). The symptoms of autism can vary in the severity of their presentation. Some children with autism may make no eye contact and seem totally aloof, whereas others may show intermittent engagement with their environment and may make inconsistent eye contact, smile, and hug. These social behaviors often come on the child's own terms, and are difficult to elicit from another person. Children with autism may also present with varying verbal abilities. They can range from being nonverbal to having advanced speech, capable of imitating songs, rhymes, or television commercials. What is most notable in children with autism is the quality of their speech and language. The speech may have an odd prosody or intonation and may be characterized by echolalia, pronoun reversal, nonsense rhyming, and other idiosyncratic language forms. Intellectual functioning can vary from mental retardation to superior intellectual functioning in select areas. Some children with autism show typical development in certain skills and may even show areas of strength in specific areas, such as puzzles, art, or music. Play skills in children with autism are typically aberrant, characterized by little symbolic play, ritualistic rigidity, and preoccupation with parts of objects. Stereotypical body movements, a marked need for sameness, and a very narrow range of interests are also common. The autistic child is often withdrawn and spends hours in solitary play. Ritualistic behavior prevails, reflecting the child's need to maintain a consistent, predictable environment. Tantrum-like rages may accompany disruptions of routine. Eye contact is typically minimal or absent. Visual scanning of hand and finger movements, mouthing of objects, and rubbing of surfaces may indicate a heightened awareness of and sensitivity to some stimuli, whereas diminished responses to pain and lack of startle responses to sudden loud noises reflect lowered sensitivity to other stimuli.\n社会交往障碍\n社交互动\n孤独症儿童普遍缺乏社会性互动,普遍表现出自己愿意怎样做就怎样做,毫无顾忌,旁若无人,很难与别人同步游戏,注意力不能与游戏者同时集中在同一事情或物品上。\n有的患儿从婴儿时期起就表现出这一特征,他们虽然表现 出“黏人”行为,但多是表面的依附,缺乏真正亲近父母的行为,对母亲的搂抱、亲吻毫无反应,当人要抱起他时,他不伸手表现期待要抱起的姿势;长大一些后,不主动找其他小孩玩,别人找他时表现躲避,对呼唤没有反应,总是自己单独玩。\n他们的目光不注视对方,甚至回避对方的目光,平时活动时目光也游移不定,看人时常眯着眼、斜视或给人以用余光看人的感觉,很少正视、微笑,也从不会主动和人打招呼。\n\n存在质的缺陷\n缺乏交往兴趣\n缺乏正常交往方法和技巧\n婴儿期:母哺乳时没有对视和微笑\n抱起时发挺,不愿与人贴近\n对人的声音没有兴趣、\n叫名字反应少\n过分安静、被动\n回避目光、笑时不看人、缺乏适当的表情\n没有期待被抱起的姿势\n不模仿大人的行为\n反复摇头或用头撞床\n身体运动不协调(右侧)\n幼儿期后\n回避目光\n对他人言语无反应\n对父母不产生依恋\n缺乏交往兴趣、愿望\n交往方式异常,不会根据社交情景调整\n 自己行为\n不会分享欢乐,不会寻求安慰或安慰人\n不会想象性游戏等 \n少年期后\n目光对视改善\n对家人友好而有感情\n缺乏社会交往兴趣\n缺乏社会交往技巧\n难以建立友谊\n\n\n交流障碍(言语和非言语)\n口语语言发展迟缓或完全缺乏 ;\n虽有足够的语言能力,但不能与他人开始或维持一段交谈 ;\n刻板地重复一些言语或奇怪的言语 ;\n语言交流上还常常表现出代词运用“反转”\n不会提问或回答问题,多是重复别人的问话\n\n非言语交流障碍\n 表情变化较少、目光无交流\n 拉着他人手走向所要物品\n 缺乏其他手势\n 缺乏身体姿势 不会点、摇头\n言语交流障碍\n 言语理解力受损\n 言语发育迟缓或不发育\n 言语形式及内容异常\n 语调、语速异常,模仿言语\n 刻板言语、代词误用等\n 言语运用能力受损\n 话少、简单、刻板、书面语、连贯差\n 与环境不适 难以组织语言或拓展话题 \n\n兴趣狭窄、刻板重复的行为方式\n表现出兴趣狭窄,行为刻板重复,有强烈要求维持环境不变的意愿。\n固执于某些特殊而不具功能的常规或仪式行为 ;\n刻板重复的身体动作行为 (例如前后摆动身体、摇晃头部、室内绕圈等) ;\n持续专注于物件的某些部份。\n兴趣狭窄、怪癖\n行为方式刻板重复\n刻板重复的怪异行为 \n\n三大类核心症状\\\nOther特别关注细节(尤其视觉)\n难以建立概念、想法、事物、事件间的联系(tiger woods)—破碎的世界\n组织性差(语言、思维)\n理解力及抽象思维差(谚语、成语)\n排序差\n泛化差\n情感不协调\n感觉异常\n 过分关注物体的气味、味道、质地等\n 痛觉减退\n 听觉减退(1.6-7.9%)\n 听觉超敏(18%)\n精神发育迟滞\n 3/4 患儿存在精神发育迟滞\n 认知发展不平衡(文字、计算、音乐)\n 器质性病因\n 脆性X综合征\n 21三体综合征\n 结节性硬化症\n 其他神经皮肤综合征\n 其他综合征和染色体异常\n\n注意障碍和多动\n 64%存在注意障碍\n 36-48%存在过度活动\n癫痫\n 4-42%伴有癫痫\n\n自伤\n 24-43%有自伤史\n发脾气或攻击行为\n 交流差\n睡眠障碍\n 11%存在睡眠障碍\n 入睡难,夜醒次数多、时间长, \n 睡眠少,早醒\n大头 \n 17.3%存在 \n 大脑、小脑过度生长所致\n 部位:小脑白质,大脑灰、白质\n 尤其额叶\n脑瘫\n 2.9%孤独症儿童伴有脑瘫\n 10.5%脑瘫患儿伴有ASD\n
  • 世界上没有两个完全一样的孤独症患者,表现都是因人而异的。\n该症主要表现为三大类核心症状,即:社会交往障碍、交流障碍、兴趣狭窄和刻板重复的行为方式,此外,多数患儿伴有不同程度的智力障碍。\n    1、社会交往障碍\n    即孤独离群,不会与人建立正常的联系。有的患儿从婴儿时期起就表现这一特征,如从小就和父母亲不亲,也不喜欢要人抱,当人要抱起他时不伸手表现期待要被抱起的姿势,不主动找小孩玩,别人找他玩时表现躲避,对呼唤没有反应,总喜欢自己单独活动,自己玩。有的患儿虽然表现不拒绝别人,但不会与小朋友进行交往,即缺乏社会交往技巧,如找小朋友时不是突然拍人一下,就是揪人一下或突然过去搂人一下,然后自己就走了,好像拍人、揪人不是为了找人联系而只是一个动作,或者说只存在一个接触的形式,而无接触人的内容和目的。他们的“孤独”还表现在对周围的事不关心,似乎是听而不闻,视而不见,自己愿意怎样做就怎样做,毫无顾忌,旁若无人,周围发生什么事似乎都与他无关,很难引起他的兴趣和注意,目光经常变化,不易停留在别人要求他注意的事情上面,他们似乎生活在自己的小天地里。另外他们的目光不注视对方甚至回避对方的目光,平时活动时目光也游移不定,看人时常眯着眼,斜视或用余光等,很少正视也很少表现微笑,也从不会和人打招呼。\n    2、交流障碍\n    (1)非言语交流障碍。该症患儿常以哭或尖叫表示他们的不舒适或需要。稍大的患儿可能会拉着大人手走向他想要的东西缺乏相应的面部表情,表情也常显得漠然,很少用点头、摇头、摆手等动作来表达自己的意愿。\n    (2)言语交流障碍。大多数患儿言语很少,严重的病例几乎终生不语,会说会用的词汇有限,并且即使有的患儿会说,也常常不愿说话而宁可以手势代替。有的会说话,但声音很小,很低或自言自语重复一些单调的话。有的患儿只会模仿别人说过的话,而不会用自己的语言来进行交谈。不少患儿不会提问或回答问题,只是重复别人的问话。语言的交流上还常常表现在代词运用的混淆颠倒,如常用“你”和“他”来代替他自己。\n    3、兴趣狭窄及刻板重复的行为方式\n    孤独症儿童常常在较长时间里专注于某种或几种游戏或活动,如着迷于旋转锅盖,单调地摆放积木块,热衷于观看电视广告和天气预报,面对通常儿童们喜欢的动画片,儿童电视,电影则毫无兴趣,一些患儿天天要吃同样的饭菜,出门要走相同的路线,排便要求一样的便器,如有变动则大哭大闹,难以适应新环境,多数患儿同时还表现无目的活动,活动过度,单调重复地蹦跳、拍手、挥手、奔跑旋转,也有的甚至出现自伤自残,如反复挖鼻孔、抠嘴、咬唇、吸吮等动作。\n    4、大多智力发育落后及不均衡\n    多数智力发育比同龄儿迟钝,只有20-25%的患儿智力正常或接近正常。但其在智力活动的某一方面有的又出奇地好,令人不可思议,有不少患儿的机械记忆能力很强,尤其对文字符号的记忆能力。如有位3、4岁患儿特别喜欢认字,见字就主动问念什么,并且只问一次就记住,为此他能毫不费力地流利地阅读儿童故事书,说明他掌握不少词汇,但当他要用词来表达自己的意思时则存在明显的困难,说明他们存在理解语言和运用语言能力方面的损害。\nAutism is a neurodevelopmental disorder in which the clinical presentation can vary with the severity of the impairment. Despite the variability in the clinical pattern, all children with autism manifest some degree of impairment in the areas of reciprocal social interaction, communication, and restrictive and repetitive stereotypical patterns of behavior, interests, or activities. Although there is no pathognomonic symptom or behavior seen in all children with autism, most children have some impairment in joint attention or pretend play. Joint attention is the ability to use eye contact and pointing for the purposes of sharing experiences with others. It is a skill that typically develops by 18 mo. Other precursor skills to joint attention that are often absent in children with autism are protoimperative pointing (the use of pointing to obtain an object of desire) and protodeclarative pointing (the use of pointing to an object of interest simply to have another share in the interest with him or her). The symptoms of autism can vary in the severity of their presentation. Some children with autism may make no eye contact and seem totally aloof, whereas others may show intermittent engagement with their environment and may make inconsistent eye contact, smile, and hug. These social behaviors often come on the child's own terms, and are difficult to elicit from another person. Children with autism may also present with varying verbal abilities. They can range from being nonverbal to having advanced speech, capable of imitating songs, rhymes, or television commercials. What is most notable in children with autism is the quality of their speech and language. The speech may have an odd prosody or intonation and may be characterized by echolalia, pronoun reversal, nonsense rhyming, and other idiosyncratic language forms. Intellectual functioning can vary from mental retardation to superior intellectual functioning in select areas. Some children with autism show typical development in certain skills and may even show areas of strength in specific areas, such as puzzles, art, or music. Play skills in children with autism are typically aberrant, characterized by little symbolic play, ritualistic rigidity, and preoccupation with parts of objects. Stereotypical body movements, a marked need for sameness, and a very narrow range of interests are also common. The autistic child is often withdrawn and spends hours in solitary play. Ritualistic behavior prevails, reflecting the child's need to maintain a consistent, predictable environment. Tantrum-like rages may accompany disruptions of routine. Eye contact is typically minimal or absent. Visual scanning of hand and finger movements, mouthing of objects, and rubbing of surfaces may indicate a heightened awareness of and sensitivity to some stimuli, whereas diminished responses to pain and lack of startle responses to sudden loud noises reflect lowered sensitivity to other stimuli.\n社会交往障碍\n社交互动\n孤独症儿童普遍缺乏社会性互动,普遍表现出自己愿意怎样做就怎样做,毫无顾忌,旁若无人,很难与别人同步游戏,注意力不能与游戏者同时集中在同一事情或物品上。\n有的患儿从婴儿时期起就表现出这一特征,他们虽然表现 出“黏人”行为,但多是表面的依附,缺乏真正亲近父母的行为,对母亲的搂抱、亲吻毫无反应,当人要抱起他时,他不伸手表现期待要抱起的姿势;长大一些后,不主动找其他小孩玩,别人找他时表现躲避,对呼唤没有反应,总是自己单独玩。\n他们的目光不注视对方,甚至回避对方的目光,平时活动时目光也游移不定,看人时常眯着眼、斜视或给人以用余光看人的感觉,很少正视、微笑,也从不会主动和人打招呼。\n\n存在质的缺陷\n缺乏交往兴趣\n缺乏正常交往方法和技巧\n婴儿期:母哺乳时没有对视和微笑\n抱起时发挺,不愿与人贴近\n对人的声音没有兴趣、\n叫名字反应少\n过分安静、被动\n回避目光、笑时不看人、缺乏适当的表情\n没有期待被抱起的姿势\n不模仿大人的行为\n反复摇头或用头撞床\n身体运动不协调(右侧)\n幼儿期后\n回避目光\n对他人言语无反应\n对父母不产生依恋\n缺乏交往兴趣、愿望\n交往方式异常,不会根据社交情景调整\n 自己行为\n不会分享欢乐,不会寻求安慰或安慰人\n不会想象性游戏等 \n少年期后\n目光对视改善\n对家人友好而有感情\n缺乏社会交往兴趣\n缺乏社会交往技巧\n难以建立友谊\n\n\n交流障碍(言语和非言语)\n口语语言发展迟缓或完全缺乏 ;\n虽有足够的语言能力,但不能与他人开始或维持一段交谈 ;\n刻板地重复一些言语或奇怪的言语 ;\n语言交流上还常常表现出代词运用“反转”\n不会提问或回答问题,多是重复别人的问话\n\n非言语交流障碍\n 表情变化较少、目光无交流\n 拉着他人手走向所要物品\n 缺乏其他手势\n 缺乏身体姿势 不会点、摇头\n言语交流障碍\n 言语理解力受损\n 言语发育迟缓或不发育\n 言语形式及内容异常\n 语调、语速异常,模仿言语\n 刻板言语、代词误用等\n 言语运用能力受损\n 话少、简单、刻板、书面语、连贯差\n 与环境不适 难以组织语言或拓展话题 \n\n兴趣狭窄、刻板重复的行为方式\n表现出兴趣狭窄,行为刻板重复,有强烈要求维持环境不变的意愿。\n固执于某些特殊而不具功能的常规或仪式行为 ;\n刻板重复的身体动作行为 (例如前后摆动身体、摇晃头部、室内绕圈等) ;\n持续专注于物件的某些部份。\n兴趣狭窄、怪癖\n行为方式刻板重复\n刻板重复的怪异行为 \n\n三大类核心症状\\\nOther特别关注细节(尤其视觉)\n难以建立概念、想法、事物、事件间的联系(tiger woods)—破碎的世界\n组织性差(语言、思维)\n理解力及抽象思维差(谚语、成语)\n排序差\n泛化差\n情感不协调\n感觉异常\n 过分关注物体的气味、味道、质地等\n 痛觉减退\n 听觉减退(1.6-7.9%)\n 听觉超敏(18%)\n精神发育迟滞\n 3/4 患儿存在精神发育迟滞\n 认知发展不平衡(文字、计算、音乐)\n 器质性病因\n 脆性X综合征\n 21三体综合征\n 结节性硬化症\n 其他神经皮肤综合征\n 其他综合征和染色体异常\n\n注意障碍和多动\n 64%存在注意障碍\n 36-48%存在过度活动\n癫痫\n 4-42%伴有癫痫\n\n自伤\n 24-43%有自伤史\n发脾气或攻击行为\n 交流差\n睡眠障碍\n 11%存在睡眠障碍\n 入睡难,夜醒次数多、时间长, \n 睡眠少,早醒\n大头 \n 17.3%存在 \n 大脑、小脑过度生长所致\n 部位:小脑白质,大脑灰、白质\n 尤其额叶\n脑瘫\n 2.9%孤独症儿童伴有脑瘫\n 10.5%脑瘫患儿伴有ASD\n
  • 世界上没有两个完全一样的孤独症患者,表现都是因人而异的。\n该症主要表现为三大类核心症状,即:社会交往障碍、交流障碍、兴趣狭窄和刻板重复的行为方式,此外,多数患儿伴有不同程度的智力障碍。\n    1、社会交往障碍\n    即孤独离群,不会与人建立正常的联系。有的患儿从婴儿时期起就表现这一特征,如从小就和父母亲不亲,也不喜欢要人抱,当人要抱起他时不伸手表现期待要被抱起的姿势,不主动找小孩玩,别人找他玩时表现躲避,对呼唤没有反应,总喜欢自己单独活动,自己玩。有的患儿虽然表现不拒绝别人,但不会与小朋友进行交往,即缺乏社会交往技巧,如找小朋友时不是突然拍人一下,就是揪人一下或突然过去搂人一下,然后自己就走了,好像拍人、揪人不是为了找人联系而只是一个动作,或者说只存在一个接触的形式,而无接触人的内容和目的。他们的“孤独”还表现在对周围的事不关心,似乎是听而不闻,视而不见,自己愿意怎样做就怎样做,毫无顾忌,旁若无人,周围发生什么事似乎都与他无关,很难引起他的兴趣和注意,目光经常变化,不易停留在别人要求他注意的事情上面,他们似乎生活在自己的小天地里。另外他们的目光不注视对方甚至回避对方的目光,平时活动时目光也游移不定,看人时常眯着眼,斜视或用余光等,很少正视也很少表现微笑,也从不会和人打招呼。\n    2、交流障碍\n    (1)非言语交流障碍。该症患儿常以哭或尖叫表示他们的不舒适或需要。稍大的患儿可能会拉着大人手走向他想要的东西缺乏相应的面部表情,表情也常显得漠然,很少用点头、摇头、摆手等动作来表达自己的意愿。\n    (2)言语交流障碍。大多数患儿言语很少,严重的病例几乎终生不语,会说会用的词汇有限,并且即使有的患儿会说,也常常不愿说话而宁可以手势代替。有的会说话,但声音很小,很低或自言自语重复一些单调的话。有的患儿只会模仿别人说过的话,而不会用自己的语言来进行交谈。不少患儿不会提问或回答问题,只是重复别人的问话。语言的交流上还常常表现在代词运用的混淆颠倒,如常用“你”和“他”来代替他自己。\n    3、兴趣狭窄及刻板重复的行为方式\n    孤独症儿童常常在较长时间里专注于某种或几种游戏或活动,如着迷于旋转锅盖,单调地摆放积木块,热衷于观看电视广告和天气预报,面对通常儿童们喜欢的动画片,儿童电视,电影则毫无兴趣,一些患儿天天要吃同样的饭菜,出门要走相同的路线,排便要求一样的便器,如有变动则大哭大闹,难以适应新环境,多数患儿同时还表现无目的活动,活动过度,单调重复地蹦跳、拍手、挥手、奔跑旋转,也有的甚至出现自伤自残,如反复挖鼻孔、抠嘴、咬唇、吸吮等动作。\n    4、大多智力发育落后及不均衡\n    多数智力发育比同龄儿迟钝,只有20-25%的患儿智力正常或接近正常。但其在智力活动的某一方面有的又出奇地好,令人不可思议,有不少患儿的机械记忆能力很强,尤其对文字符号的记忆能力。如有位3、4岁患儿特别喜欢认字,见字就主动问念什么,并且只问一次就记住,为此他能毫不费力地流利地阅读儿童故事书,说明他掌握不少词汇,但当他要用词来表达自己的意思时则存在明显的困难,说明他们存在理解语言和运用语言能力方面的损害。\nAutism is a neurodevelopmental disorder in which the clinical presentation can vary with the severity of the impairment. Despite the variability in the clinical pattern, all children with autism manifest some degree of impairment in the areas of reciprocal social interaction, communication, and restrictive and repetitive stereotypical patterns of behavior, interests, or activities. Although there is no pathognomonic symptom or behavior seen in all children with autism, most children have some impairment in joint attention or pretend play. Joint attention is the ability to use eye contact and pointing for the purposes of sharing experiences with others. It is a skill that typically develops by 18 mo. Other precursor skills to joint attention that are often absent in children with autism are protoimperative pointing (the use of pointing to obtain an object of desire) and protodeclarative pointing (the use of pointing to an object of interest simply to have another share in the interest with him or her). The symptoms of autism can vary in the severity of their presentation. Some children with autism may make no eye contact and seem totally aloof, whereas others may show intermittent engagement with their environment and may make inconsistent eye contact, smile, and hug. These social behaviors often come on the child's own terms, and are difficult to elicit from another person. Children with autism may also present with varying verbal abilities. They can range from being nonverbal to having advanced speech, capable of imitating songs, rhymes, or television commercials. What is most notable in children with autism is the quality of their speech and language. The speech may have an odd prosody or intonation and may be characterized by echolalia, pronoun reversal, nonsense rhyming, and other idiosyncratic language forms. Intellectual functioning can vary from mental retardation to superior intellectual functioning in select areas. Some children with autism show typical development in certain skills and may even show areas of strength in specific areas, such as puzzles, art, or music. Play skills in children with autism are typically aberrant, characterized by little symbolic play, ritualistic rigidity, and preoccupation with parts of objects. Stereotypical body movements, a marked need for sameness, and a very narrow range of interests are also common. The autistic child is often withdrawn and spends hours in solitary play. Ritualistic behavior prevails, reflecting the child's need to maintain a consistent, predictable environment. Tantrum-like rages may accompany disruptions of routine. Eye contact is typically minimal or absent. Visual scanning of hand and finger movements, mouthing of objects, and rubbing of surfaces may indicate a heightened awareness of and sensitivity to some stimuli, whereas diminished responses to pain and lack of startle responses to sudden loud noises reflect lowered sensitivity to other stimuli.\n社会交往障碍\n社交互动\n孤独症儿童普遍缺乏社会性互动,普遍表现出自己愿意怎样做就怎样做,毫无顾忌,旁若无人,很难与别人同步游戏,注意力不能与游戏者同时集中在同一事情或物品上。\n有的患儿从婴儿时期起就表现出这一特征,他们虽然表现 出“黏人”行为,但多是表面的依附,缺乏真正亲近父母的行为,对母亲的搂抱、亲吻毫无反应,当人要抱起他时,他不伸手表现期待要抱起的姿势;长大一些后,不主动找其他小孩玩,别人找他时表现躲避,对呼唤没有反应,总是自己单独玩。\n他们的目光不注视对方,甚至回避对方的目光,平时活动时目光也游移不定,看人时常眯着眼、斜视或给人以用余光看人的感觉,很少正视、微笑,也从不会主动和人打招呼。\n\n存在质的缺陷\n缺乏交往兴趣\n缺乏正常交往方法和技巧\n婴儿期:母哺乳时没有对视和微笑\n抱起时发挺,不愿与人贴近\n对人的声音没有兴趣、\n叫名字反应少\n过分安静、被动\n回避目光、笑时不看人、缺乏适当的表情\n没有期待被抱起的姿势\n不模仿大人的行为\n反复摇头或用头撞床\n身体运动不协调(右侧)\n幼儿期后\n回避目光\n对他人言语无反应\n对父母不产生依恋\n缺乏交往兴趣、愿望\n交往方式异常,不会根据社交情景调整\n 自己行为\n不会分享欢乐,不会寻求安慰或安慰人\n不会想象性游戏等 \n少年期后\n目光对视改善\n对家人友好而有感情\n缺乏社会交往兴趣\n缺乏社会交往技巧\n难以建立友谊\n\n\n交流障碍(言语和非言语)\n口语语言发展迟缓或完全缺乏 ;\n虽有足够的语言能力,但不能与他人开始或维持一段交谈 ;\n刻板地重复一些言语或奇怪的言语 ;\n语言交流上还常常表现出代词运用“反转”\n不会提问或回答问题,多是重复别人的问话\n\n非言语交流障碍\n 表情变化较少、目光无交流\n 拉着他人手走向所要物品\n 缺乏其他手势\n 缺乏身体姿势 不会点、摇头\n言语交流障碍\n 言语理解力受损\n 言语发育迟缓或不发育\n 言语形式及内容异常\n 语调、语速异常,模仿言语\n 刻板言语、代词误用等\n 言语运用能力受损\n 话少、简单、刻板、书面语、连贯差\n 与环境不适 难以组织语言或拓展话题 \n\n兴趣狭窄、刻板重复的行为方式\n表现出兴趣狭窄,行为刻板重复,有强烈要求维持环境不变的意愿。\n固执于某些特殊而不具功能的常规或仪式行为 ;\n刻板重复的身体动作行为 (例如前后摆动身体、摇晃头部、室内绕圈等) ;\n持续专注于物件的某些部份。\n兴趣狭窄、怪癖\n行为方式刻板重复\n刻板重复的怪异行为 \n\n三大类核心症状\\\nOther特别关注细节(尤其视觉)\n难以建立概念、想法、事物、事件间的联系(tiger woods)—破碎的世界\n组织性差(语言、思维)\n理解力及抽象思维差(谚语、成语)\n排序差\n泛化差\n情感不协调\n感觉异常\n 过分关注物体的气味、味道、质地等\n 痛觉减退\n 听觉减退(1.6-7.9%)\n 听觉超敏(18%)\n精神发育迟滞\n 3/4 患儿存在精神发育迟滞\n 认知发展不平衡(文字、计算、音乐)\n 器质性病因\n 脆性X综合征\n 21三体综合征\n 结节性硬化症\n 其他神经皮肤综合征\n 其他综合征和染色体异常\n\n注意障碍和多动\n 64%存在注意障碍\n 36-48%存在过度活动\n癫痫\n 4-42%伴有癫痫\n\n自伤\n 24-43%有自伤史\n发脾气或攻击行为\n 交流差\n睡眠障碍\n 11%存在睡眠障碍\n 入睡难,夜醒次数多、时间长, \n 睡眠少,早醒\n大头 \n 17.3%存在 \n 大脑、小脑过度生长所致\n 部位:小脑白质,大脑灰、白质\n 尤其额叶\n脑瘫\n 2.9%孤独症儿童伴有脑瘫\n 10.5%脑瘫患儿伴有ASD\n
  • 发病率是万分之0.12-34,近年来发病率有所上升,一方面是由于对其的识别率提高,另一方面可能是由于诊断标准的变化。\n男女比例平均4:1,但女性患者损害症状更重,更多伴有癫痫。\n\nThe prevalence rate of all pervasive developmental disorders appears to be 58.7 per 10,000 children. This prevalence rate includes autism (22/10,000), Asperger syndrome (11/10,000), Pervasive Developmental Disorder not otherwise specified (24.8/10,000), and child disintegrative disorder (0.9/10,000). This is consistent with previous research that identified the prevalence of all pervasive developmental disorders as 60/10,000. The incidence of the diagnosis of autism may have increased. There is evidence that the increase in the number of children identified with autism is likely related to changes in the definition of and diagnostic criteria for autism, as well as improvements in the recognition of autism at younger ages. An increase in the availability of diagnostic services, treatment facilities, and professionals trained in childhood development disorders has greatly increased the capacity of the health care system to identify and treat children with autistic spectrum disorders at younger ages.\n\n女性患者损害更重\n (症状更重,更多伴有癫痫)\n
  • neuroligin负责神经细胞间的信号传导,在遗传原因导致neuroligin缺失的小鼠大脑中,神经突触不能发挥正常功能\n麻疹-腮腺炎-风疹三联疫苗\nThe exact cause of autism is unknown, but is believed to be multifactorial, with a strong genetic influence. There is a 60–90% concordance rate for monozygotic twins and a 0% concordance rate for dizygotic twins. There is a 92% concordance rate for monozygotic twins and a 30% concordance rate for dizygotic twins for the broader spectrum of social and communication difficulties. The genetic component of autism is believed to be heterogeneous, attributed to as many as 100 genes, and genetic abnormalities in autism have been identified in mitochondrial genes and in all chromosomes except 14 and 20. It is believed that multiple genes interact with varied environmental causes to produce the disorder, and that the causative genes may vary from one population to another. Because of the complex heterogeneity and the variable behavioral phenotype of autism, linkage studies have not identified specific chromosomal regions that are universally believed to harbor the genes causing autism. Compared with other disorders of a similar behavioral phenotype, certain genes are believed to be more strongly implicated in the heritability of autism, including chromosome 7q (seen in the similar behavioral phenotype of specific language impairment disorder), chromosome 2q, and chromosome 15q11–13 (seen in Prader-Willi syndrome [see Chapter 108 ] and Angelman syndrome [see Chapter 81 ], both of which manifest traits of rigidity and stereotypical behaviors). Autism and Asperger disorder are 4 and 8 times more prevalent in males than in females, respectively, suggesting a strong X-linked component. Autism has also been linked with other neurodevelopmental disorders, including seizure disorder, fragile X syndrome (see Chapter 81 ), and tuberous sclerosis (see Chapter 596.2 ). Various environmental factors have been explored as causative agents in autism. Despite previously held notions, autism is not associated with certain emotionally distant parenting styles (“refrigerator mothers”). Many excellent epidemiologic studies have established that there is no association between the administration of the measles-mumps-rubella vaccine and the development of autism.\n\n一直到上世纪中叶,研究人员都认为母亲的冷情绪行为(cold  emotional  behaviour)是儿童患有孤独症的主要原因;上世纪90年代,这种“电冰箱妈妈”(refrigerator  mom)理论被“麻疹、腮腺炎和风疹疫苗引发儿童孤独症”观点取代,但这种观点依然没有任何科学依据。最近普遍接受的观点是孤独症与遗传缺陷有关。同卵双生研究结果证实:孤独症患者的同卵双生同胞,患有孤独症的几率是80-95%。 \n\nMax  Planck研究人员最近证实了“孤独症遗传缺陷”与大脑信号传导失败有关。研究人员在动物模型中,发现引发孤独症的突变基因属于编码neuroligin蛋白家族的基因,研究结果公布于9月21日《Neuron》。neuroligin负责神经细胞间的信号传导,在遗传原因导致neuroligin缺失的小鼠大脑中,神经细胞间的接触点——神经突触不能发挥正常功能,研究人员推测人类孤独症(autistic)与此有关。         孤独症是一种常见的精神疾病,患者语言学习能力发育延缓甚至根本没有语言学习能力,社交能力丧失,反复进行同一件事情,有些伴随有精神障碍。现实生活中,像电影《雨人》中主人公那样智商较高、技术超群、经常在某个领域中被成为“专家”的孤独症患者实际上是少之又少。         一直到上世纪中叶,研究人员都认为母亲的冷情绪行为(cold  emotional  behaviour)是儿童患有孤独症的主要原因;上世纪90年代,这种“电冰箱妈妈”(refrigerator  mom)理论被“麻疹、腮腺炎和风疹疫苗引发儿童孤独症”观点取代,但这种观点依然没有任何科学依据。最近普遍接受的观点是孤独症与遗传缺陷有关。同卵双生研究结果证实:孤独症患者的同卵双生同胞,患有孤独症的几率是80-95%。         2003年法国遗传学专家Thomas  Bourgeron通过对有严重孤独症儿童的家庭进行调查,发现NLGN3和NLGN4X两个基因发生突变会导致孤独症。         Bourgeron的发现为神经科学领域研究带来一股强烈的冲击波,因为NLGN3和NLGN4X所编码的两种蛋白hadneuroligin-3和  neuroligin-4在神经细胞连接中发挥重要作用。神经细胞互相之间通过突触进行联系。突触前细胞受到刺激后会产生神经递质,神经递质到达受体细胞突触后膜后进入受体细胞影响受体细胞的活动情况,研究人员推测假如neuroligins缺失,此过程会被终止。         在Bourgeron获得上述发现的同时,Max  Planck研究所研究人员Nils  Brose  和Frederique  Varoqueaux与附近大学医学院同事张卫齐(Weiqi  Zhang,音译)、遗传学家Thomas  Südhof等组成的研究小组已经在小鼠模型中对neuroligin进行了10年的研究。Brose说:“我们已经得到了neuroligin-3或neuroligin-4缺陷小鼠模型,从功能学角度讲这些小鼠携带了同人类孤独症类似的突变”。世界上第一个孤独症遗传动物模型产生于Brose等的实验室。         Brose、Varoqueaux  和Zhang在《Neuron》发表文章说,这种模型小鼠的神经细胞信号传导存在障碍。Brose与Varoqueaux的合作得到不仅neuroligin-1/neuroligin-2缺失,而且是四种已知neuroligin蛋白同时缺失的小鼠品系。这种突变品系比孤独症患者遭受的症状更为剧烈(孤独症患者只有一种neuroligin突变基因)。没有任何neuroligin的小鼠,神经系统功能完全丧失,出生后不久即死亡。Brose认为:“通过研究这些小鼠的神经细胞所获得的信息不仅有助于脑部研究,而且有助于寻找孤独症的原因。我们发现neuroligin与突触的成熟有关,Neuroligin使受体细胞突触膜表面附有足够的受体蛋白。”         “我们在neuroligin突变小鼠中观察到的现象是孤独症患者病情的一种加强效果,”           Brose说“我们推断为孤独症是一种与神经突触有关的疾病。”  Max  Planck研究人员目前正在对缺乏neuroligin-3和neuroligin-4的小鼠的行为进行分析,因为neuroligin-3和neuroligin-4缺乏的情况与人类neuroligin突变导致的孤独症相似。这种相关的小鼠动物模型在实验室已经获得有一段时间了,Brose说:“只是在几个月前才开始对他们的行为进行研究。”研究发现neuroligin-4突变小鼠没有社交能力,并且伴随惊惶、焦虑。         研究人员从遗传学角度出发,得到独孤症动物模型,然而还有一个值得考虑到问题:只有极少数的孤独症是由于neuroligin突变引发的,研究人员对于孤独症的其它遗传缺陷原因还是未知的。\n英文原文:\nWhen nerve cells can’t make contact\nMax Planck scientists have decoded the molecular details of a genetic defect that disrupts signal transmission in the brain and causes autism \nUsing an animal model, brain researchers in Göttingen have examined the effects of mutations that cause autism in humans. These are mutations in the genes which carry the building instructions for proteins in the neuroligin family. The study published in the scientific journal Neuron (September 21, 2006) shows that neuroligins ensure that signal transmission between nerve cells functions. In the brain of genetically altered mice without neuroligins, the contact points at which the nerve cells communicate, the synapses, do not mature. The researchers assume that similar malfunctions are experienced by autistic patients.\nAutism is one of the most common psychiatric illnesses. Around 0.5 percent of all young children have a syndrome belonging to the "autistic spectrum". The main symptoms of this developmental malfunction are delayed language development or no language development at all, disturbed social behaviour and repetitive behaviour patterns. In many patients, the disease is accompanied by mental disability. Autistic individuals exhibiting high intelligence or outstanding skills in a particular area, called "savants", such as the main character in the film "Rain Man", are rare.Even up to the middle of the last century, exceptionally cold emotional behaviour on the part of the mother was given as the cause for autism. However, the "refrigerator mom" theory has now been refuted. The belief widely held in the 1990s that the measles, mumps and rubella vaccine could cause autism in small children has no scientific basis at all. Today, it is clear that genetic factors are the major cause of the illness. Studies of identical twins have been particularly convincing in demonstrating this fact - the probability that the identical twin of an autistic person will also be autistic lies between 80 and 95 percent.In 2003, French geneticist Thomas Bourgeron showed in an investigation of families with several autistic children that mutations in the two genes NLGN3 and NLGN4X had lead to a complete loss of function in the genes and triggered autism in affected patients. Bourgeron’s work sent a shock wave through neuro-scientific institutes worldwide, as the a NLGN genes were not unknown. They are responsible for the creation of two proteins, neuroligin-3 and neuroligin-4, which are considered to play an important part in the structure of nerve cell contacts. Nerve cells communicate with each other at specialized contact points, the synapses. When stimulated, a transmitting nerve cell emits neurotransmitters. These signal molecules reach the receiving cell and affect its activity status - provided the receiving cell has "aerials" on its synapses - receptors that bind the chemical signals. The scientists speculated that this process could be disrupted if the nerve cells have no neuroligins. At the time of Bourgeron’s discovery, Nils Brose and Frederique Varoqueaux, brain researchers at the Max Planck Institute for Experimental Medicine in Göttingen, in collaboration with colleagues Weiqi Zhang from the neighbouring University Hospital and US geneticist Thomas Südhof, had already been working on neuroligins for ten years - however in mice, not in humans. "We had even already created mutant mice which, in functional terms, were carrying the same mutations as occur in autistic patients. Our mice were also lacking either neuroligin-3 or neuroligin-4," says Brose. The researchers were in possession of the first genetic animal model for autism.A study published by Brose, Varoqueaux and Zhang in the specialist journal Neuron has shown that this model exhibited a malfunction in the signal transmission between the nerve cells. With his colleague Varoqueaux, Brose has created a mouse line that not only lacked neuroligin-1 or neuroligin-2, both of which have been associated with autism, but were missing all four known variants of the protein simultaneously. The consequences are accordingly more drastic than with autistic patients, who only have one mutated neuroligin gene. Without any neuroligins, the function of the nervous system breaks down completely and the mutant animals die immediately after birth. However, their nerve cells can be examined in detail. According to Brose, "they deliver important findings not only for brain research in general, but also for the possible causes of autism. Our investigations show that the neuroligins regulate the maturation of the synapses. They ensure that there are sufficient receptor proteins on the synaptic membrane of the receiving cell." What was initially a pure basic research project has consequently acquired direct relevance to medicine. "What we see in our neuroligin mutants is a more intensified form of the malfunction that occurs in the brain of autistic people," says Brose. "I believe that autism is a disease of the synapses, a synaptopathy." The Max Planck researchers in Göttingen now want to carry out an analysis of the behavioural biology of mutant mice lacking not all of the neuroligins, but just neuroligin-3 or neuroligin-4, as is the case of autistic patients with neuroligin mutations. The relevant mutant mice have been available in the laboratory for a long time, "but we only started analyzing their behaviour with specialists a few months ago," says Brose. The first results look most promising - neuroligin-4 mutant mice obviously have disturbed social and anxiety behaviour. "If we succeed in measuring robust, autism-relevant behavioural changes in our mutant mice, then at least the step to experimental diagnosis and therapy in the animal model will be possible." From the point of view of the geneticist, the scientists in Göttingen have the best known animal model for autism worldwide. However, there is a limitation: only very few cases of autism are caused by neuroligin mutations and, with few exceptions, nobody knows which genetic defects are present in the abundance of other autism patients. \n
  • 自闭症患者的大脑明显不同于常人的大脑。科学家们一直在试图研究:这些异于常人的差异是否正是造成自闭孤独心理症状的原因。有几点关注的是:胼胝体则比常人大脑小,这使得自闭症患者不善于进行需要两个半球各种区域协调参与的活动。轴突之间的连接比较少。\n 脑区的组织没有问题,而是各部门之间的联系很弱,在应用大脑时遇到的问题不是大脑根本无能,而是接收的信息大小和工作方法不适应。\n\nThe first 2 yr of life are crucial in early brain development, and this period is characterized by tremendous neuronal and axonal growth, synapse formation, and myelination. Retrospective analysis of head circumference in children with autism, in conjunction with MRI studies, has shown differences in the brain structure of children with autism compared with children without autism. The head circumference of children with autism is normal or slightly smaller than normal at birth until 2 mo of age. Longitudinal studies of children with autism showed an abnormally rapid increase in head circumference from 6–14 mo of age, which was largely concluded by the end of the 2nd yr of life. MRI studies done at 2–4 yr of age show that autistic toddlers have increased brain volume characterized by increased volume of the cerebellum, cerebrum, and amygdala compared with normal volumes. The abnormal growth in the first 2 yr is most marked in the frontal, temporal, cerebellar, and limbic regions of the brain, the areas of the brain responsible for higher-order cognitive, language, emotional, and social functions, which are most impaired in autism. It is believed that the early abnormal growth processes in the brain in the first 2 yr of life underlie the emergence of preclinical behavioral abnormalities seen in autism. This period of early, accelerated brain growth appears to stop early in childhood and is followed by abnormally slow or arrested growth, resulting in areas of underdeveloped and abnormal circuitry in parts of the brain. It is hypothesized that the postnatal growth of the brain is in response to adverse prenatal events; this association remains speculative.\nAdditional studies of neuroanatomy in children with autism have demonstrated anatomic changes in the anterior cingulate gyrus, an area of the brain associated with decision-making and the ascription of feelings and thoughts. Deficits in the reticular activating system, structural cerebellar changes, forebrain hippocampal lesions, and neuroradiologic abnormalities in the prefrontal and temporal lobe areas have been documented, and abnormal neurochemical findings have also been associated with autism; in addition, the dopamine, catecholamine, and serotonin levels or pathways have been implicated.\n
  • 难以理解概念的含义,过于注重细节 (聚焦事物),缺乏分析总结能力\n
  • 诊断主要是根据三大核心临床症状的表现\n
  • 还有很多精神科的量表进行评估\n\nAberrant social skill development is the hallmark of autism spectrum disorders (ASDs), and early social skill deficits may include abnormal eye contact, failure to orient to name, failure to use gestures to point or show, a lack of interactive play, failure to smile, lack of sharing, and lack of interest in other children. Combined language and social delays and regression in language or social milestones are important early red flags for an ASD, and should prompt an immediate evaluation. Early signs include unusual use of language or loss of language skills, nonfunctional rituals, inability to adapt to new settings, lack of imitation, and absence of imaginary play. Retrospective analysis of home videos shows that deviations in social and emotional development, such as decreased eye contact, failure to orient to name, and lack of joint attention, are often detected by 1 yr of age. The absence of expected social, communication, and play behaviors often precedes the emergence of odd or stereotypical behaviors or the unusual language usage that is seen in autism in the later years.\nSeveral screening tools have been developed to aid in the early detection of children with ASDs. The Checklist for Autism in Toddlers (CHAT) is a screening tool designed for use with 18 mo old children in primary care settings. The CHAT combines parent responses to a brief interview with direct observation in the clinic setting. Although its positive predictive value was high, it showed low sensitivity. The Modified Checklist for Autism in Toddlers (M-CHAT) is a 23-item parent questionnaire modified from the CHAT. It has shown good sensitivity and specificity (0.87% and 0.99%, respectively), which suggests its utility as a screening tool. The Pervasive Developmental Disorders Screening Test (PDDST) is a parent-completed survey that targets children from birth–3 yr of age and incorporates a 3-tiered approach: 1 for the primary care clinic, 1 for the developmental clinic, and 1 for the multidisciplinary autism clinic. All 3 tiers contain items that measure various aspects of language, social skills, pretend play, attachment, sensory responses, and motor stereotypies.\nIn children with ASDs, intelligence, as measured by conventional psychologic testing, usually falls in the functionally retarded range; the deficits in language and socialization make it difficult to obtain an accurate estimate of the autistic child's intellectual potential. Some autistic children perform adequately in nonverbal tests, and those with developed speech may show adequate intellectual capacity. Autistic children also show deficits in their understanding of what the other person might be feeling or thinking, a so-called lack of a theory of mind. On some psychologic tests, children with autism pay more attention to specific details while overlooking the entire gestalt of the object, demonstrating a lack of central coherence.\nA comprehensive evaluation should always include a thorough physical examination, with special attention paid to head circumference. Twenty-five percent of children with an ASD can have macrocephaly, but enlarged head size may not be apparent until after the 2nd yr of life. In the absence of dysmorphic features or focal neurologic signs, additional neuroimaging for investigation of the macrocephaly is not usually indicated. The presence of other physical stigmata should be noted, and examination of the skin with a Wood lamp should be performed to look for hypopigmented lesions that can be seen in tuberous sclerosis. Special attention should be paid to identify the dysmorphic features of fragile X syndrome (long face, large ears, large testes) and Angelman syndrome (ataxic gait, broad mouth). An audiologic evaluation and a comprehensive speech and language evaluation should be undertaken in any child with language delays. The lead level should be checked if the child shows signs of pica or lives in a high-risk environment. Chromosomal analysis should be performed if the child has evidence of mental retardation and dysmorphic features; an electroencephalogram should be performed in children with ASDs who have symptoms of developmental regression or suspicion of seizures.\n详细而正确的病史资料\n详细的精神检查\n症状及心理发育评定\n躯体和神经系统检查\n辅助检查\n 无明确的病理变化作为诊断依据\n
  • 1、药物治疗\n目前无特效药可以治愈孤独症,但以下药物可能改善该症的部分症状,并有利于教育训练的进行。具体包括:\n    (1)抗精神病药:可减轻多动、冲动、自语、自伤和刻板行为,稳定患儿情绪;改善孤僻、退缩,使患儿活跃、言语量增多,并改善情绪。\n    (2)抗抑郁药:该类药可改善该症的刻板重复行为,改善情绪,并缓解强迫症状。\n    (3)中枢兴奋药或可乐定及其它:适用于伴有注意障碍及多动症状的患儿。其它如改善和促进脑细胞功能药、维生素B6和镁剂亦可酌情使用。\n2、 教育训练\n因该症患儿在交往、交流、认知、生活自理等方面存在很多缺陷,因此,必须加强教育训练以促进患儿上述能力的发展。因不同患儿存在的缺陷及缺陷严重程度不同,因此必须强调个别化教育训练,即根据患儿的具体情况进行教育训练。为此,训练前必须对患儿进行全面的评定,然后根据评定结果确定训练目标,根据训练目标制定训练计划,并按照计划进行训练。目前在我国能够提供孤独症教育训练的专业机构较少,因此,在医生指导下,由家长对患儿进行教育训练即变得非常重要。\n3、 行为治疗\n该症患儿常常存在较多影响其社会适应或危害自身的异常行为,如:刻板行为、自伤、严重偏食等,因此选择合理的行为矫正方法对异常行为进行矫正非常重要。通过行为矫正,可以改善患儿的异常行为,建立良好行为。\n4、 家庭治疗计划\n此方面主要包括对家长的心理支持和咨询指导,目的在于使家长保持良好的心态,了解该障碍及孩子发育的特点,掌握照管、教育训练患儿及矫正患儿异常行为的基本方法,更好地与医生配合,并在家庭中对患儿进行行为矫正和教育训练。\n5、 其他\n音乐治疗、听力统合治疗、感觉统合治疗对改善患儿症状,促进患儿语言、社会交往能力等发展也有一定帮助。食物添加剂等可促使儿童行为问题的发生,包括活动过度和学习困难。为此,对这些儿童的食物应避免应用含添加剂、色素和水杨酸等的食物。\n\n\nThere is compelling evidence that intensive behavioral therapy, beginning before 3 yr of age and targeted toward speech and language development, is successful in improving both language capacity and later social functioning. Controlled studies of early intensive interventions involving 40 hr/wk of intensive 1:1 behavioral training (applied behavioral analysis) with young children for 2 yr have shown significant cognitive and behavioral gains. The training method focuses on the acquisition of compliance behavior, imitation activities, language acquisition, and integration with peers. Treatment is most successful when geared toward the individual's particular behavior patterns and language function. Parent education, training, and support are always indicated, and pharmacotherapy for certain target symptoms may be helpful.\nWorking with the family of an autistic child is vital to the child's overall care. Children with autism require alternate educational approaches, even when language capacity is near normal. Such services in general have not yet been sufficiently developed to provide adequate support and continuity of care. One successful educational model is the program for the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH). The following treatment principles are emphasized: use of objective measures, such as the Childhood Autism Rating Scale (CARS), to measure behavior and behavioral change; enhancement of skills and acceptance by the environment of autism-related deficits; use of interventions based on cognitive and behavioral theories; use of visual structures for optimal education; and multidisciplinary training for all professionals working with autistic children. Educational programming should begin as early as possible, preferably by age 2–4 yr.\nOlder children and adolescents with relatively higher intelligence, but with poor social skills and psychiatric symptoms (depression, anxiety, obsessive-compulsive disorder) may require psychotherapy, behavioral or cognitive behavioral therapy, and pharmacotherapy. Typically, behavior modification is a major part of the overall treatment for older children with autism. These procedures include enhancement (rewards emphasizing appropriate choice) and reduction (extinction, time-out, punishment). Ethical concerns about vigorous aversive therapy approaches have led to specific guidelines. Social skill training is also currently used as a treatment modality, and it appears effective, especially in a group format.\nUnfortunately, there are unfounded claims of beneficial results from many unproven therapies for autism, almost all of which have not been subjected to scientific study. Those studies that have been done have discredited the technique of facilitated communication and have shown that auditory integration therapy has no positive effect. Claims of beneficial results from the use of secretin, a peptide hormone that stimulates pancreatic secretion, have not been substantiated. Similarly, the dietary supplement N,N-dimethylglycine has no benefit.\nBecause a subgroup of autistic children presents with psychiatric symptoms, pharmacotherapy is sometimes used to ameliorate target behaviors. The behaviors include hyperactivity, tantrums, physical aggression, self-injurious behavior, stereotypies, and anxiety symptoms, especially obsessive-compulsive behaviors. The older neuroleptics were limited in their usefulness because of their tendency to produce extrapyramidal symptoms and tardive dyskinesia. Open-label trials of atypical neuroleptics (risperidone, olanzapine) have shown effectiveness in treating these behaviors, and in some instances, have also improved social relatedness (see Chapter 20.1 ).\nNaltrexone, an opiate antagonist, was also originally touted as useful, especially for self-injurious behavior, but its utility has not yet been proven. Clomipramine, a tricyclic antidepressant that inhibits serotonin reuptake, has demonstrated usefulness in reducing compulsions and stereotypies in autistic children. However, it does lower the seizure threshold, can cause agranulocytosis, and has cardiotoxic and behavior toxicity effects. Other medications used to treat psychiatric symptoms in autistic children include stimulants, selective serotonin reuptake inhibitors (SSRIs), and clonidine. The SSRIs, in particular, appear to be somewhat effective in diminishing hyperactive, agitated, and obsessive-compulsive behaviors, although there have not yet been sufficient, controlled studies regarding their utility (see Chapter 20.1 ).\n
  • \n
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  • 会给家庭带来沉重的负担。\n\nSome children, especially those with speech, may grow up to live self-sufficient, employed, albeit isolated, lives in the community. Many others remain dependent on their family for their everyday lives or require placement in facilities outside the home. Because early, intensive therapy may improve language and social function, delayed diagnosis may lead to a poor outcome. There is no increased risk of schizophrenia in adulthood, but the cost of delayed diagnosis across the life span is high. A better prognosis is associated with higher intelligence, functional speech, and less bizarre symptoms and behavior. The symptom profile for some children may change as they grow older and seizures or self-injurious behavior becomes more common.\n\nWith appropriate and intensive educational and treatment services, children with autism show improvements. The preschool years are typically the most difficult, because children with autism tend to be the least social, least communicative, and have the most behavioral difficulties. The severity of the social and communicative deficits tends to diminish as children grow older. Learning continues throughout childhood and adolescence, as long as children are receiving appropriate services and environmental supports. Adolescence can be a difficult time for some individuals with autism, because of increased social and organizational demands. In addition, some high-functioning adolescents and adults with autism may experience depressed mood.\nA number of followup studies have been conducted with autistic individuals. These studies typically are based on samples of individuals who did not receive the intensive treatment services that are available today, and may therefore underestimate positive outcomes. These studies suggest that 5–17% of individuals with autism can work and live independently as adults. The most important positive prognostic indicators are functional (i.e., useful) language before age 5 and cognitive abilities above the mentally retarded range (i.e., IQ > 70). In addition, individuals with autism appear to do best in environments that are well suited to their specific needs.\nThe good news is that in today’s culture of early intensive interventions, it appears that a number of children with autism grow up to have unexpectedly positive outcomes.\n
  • \n
  • Autism

    1. 1. 这样 们 间 虽 你 让 觉 样 远 对你视 见 晚 车 轮转啊转 对别 兴 踮 适应 发 响 惊 对应 时 发 复问 简单 问题 “ ” 须 认 “ ” 则 见 们 语 闭 们 魇 http://www.cnautism.com
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• Neurodevelopmental disorder• A strong genetic basis• Diagnosed before 3 years old• Characterized by: – Impairment in social interaction – Impairment in communication – Restricted, perseverative behaviors, interests, and activities 4
    4. 4. • Clinical Features• Etiology• Diagnosis• Treatment• Prognosis 5
    5. 5. 
• Aberrant social interaction• Impaired behavior• Verbal ability• Intellectual function 6
    6. 6. 
• Aberrant social interaction• Impaired behavior• Verbal ability• Intellectual function 7
    7. 7. 
• Aberrant social interaction• Impaired behavior• Verbal ability• Intellectual function 8
    8. 8. • Prevalence: 0.15-34/10,000• ♂ :♀=2.6-5.7:1 9
    9. 9. • Genetic influence – 60–90% concordance rate for monozygotic twins – 0% concordance rate for dizygotic twins• Nerve cells cannot make contact – Genes: NLGN3 & NLGN4X – Proteins: neuroligin-3 & neuroligin-4×Refrigerator mothers×Measles-mumps-rubella vaccine 10
    10. 10. 
 11
    11. 11. “ ” —— 33 12
    12. 12. ••• 13
    13. 13. 
 
 
 A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): – 1. Qualitative impairment in social interaction, as manifested by at least 2 of the following: • a. Marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction • b. Failure to develop peer relationships appropriate to developmental level • c. Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) • d. Lack of social or emotional reciprocity – 2. Qualitative impairments in communication, as manifested by at least 1 of the following: • a. Delay in, or total lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication, such as gesture or mime) • b. In individuals with adequate speech, marked impairment in ability to initiate or sustain a conversation with others • c. Stereotyped and repetitive use of language or idiosyncratic language • d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level – 3. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least 1 of the following: • a. Encompassing preoccupation with ≥1 stereotyped and restricted pattern of interest that is abnormal in either intensity or focus • b. Apparently inflexible adherence to specific, nonfunctional routines or rituals • c. Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or complex whole body movements) • d. Persistent precoccupation with parts of objects B. Delay or abnormal functioning in at least 1 of the following areas, with onset < age 3 yr:(1) social interaction,(2) language as used in social communication, or (3) symbolic or imaginative play C. The disturbance is not better accounted for by Rett disorder or childhood disintegrative disorderFrom Parental report of diagnosed autism in children aged 4–17 years—United States, 2003–2004. MMWR 2006;55:481; American Psychiatric Association:Diagnostic and Statistical Manual of Mental Disorders, 4th ed., text revision (DSM-IV-TR, 2000). Arlington, VA, American Psychiatric Association, 2000. 14
    14. 14. • Cognitive behavioral therapy• Familial therapy• Sensory, auditory therapy• Pharmacotherapy 
 
 
 
 15
    15. 15. 16
    16. 16. 17
    17. 17. • A lifelong, chronic disability• 5–17% of individuals with autism can work and live independently as adults 18
    18. 18. 19

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