从自闭症谱系障碍中梳理出特定的语言障碍。
Teasing out specific language impairment from an autism spectrum disorder.
机构信息
Division of Human Genetics, Growth and Development, Department of Pediatrics, Penn State Hershey Children’s Hospital, Hershey, PA, USA.
出版信息
J Dev Behav Pediatr. 2012 Apr;33(3):272-4. doi: 10.1097/DBP.0b013e31824ea235.
Marcus is a handsome, sweet, 7½-year-old boy with a significant history of delayed development, specifically in speech and language skills, as well as difficulties with social interactions that have led other specialists to be concerned about a diagnosis of an autism spectrum disorder.He has been seen in our primary care practice since birth. He was born full-term after vaginal delivery weighing 6 pounds, 6 ounces. There were no pregnancy or delivery complications noted. Genetic testing revealed normal chromosomes, fragile X, and microarray testing. Marcus was a picky eater and good sleeper and had delays in toilet training.There is no family history of attention-deficit hyperactivity disorder (ADHD), autism, or substance abuse. Maternal grandmother and mother have a history of learning difficulties, and his father and a paternal uncle have a history of depression and anxiety. Marcus lives in a supportive environment with his mother, father, and sister.Marcus was noted to have significantly delayed language, stuttering, and immediate echolalia as a toddler. Gross and fine motor milestones were met on time, but he did not talk or follow directions until 4 to 5 years old. As a younger child, he would pretend to talk on the phone or mow the grass with a pretend lawn mower, but other household activities were not of interest to Marcus.Currently, he enjoys puzzles, reading, and board games. He likes to play with other children and can interact with familiar adults. Marcus is reported to initiate social interactions, although he has difficulty in understanding personal space. Imaginative play is preferred over other types. He seeks out adult attention and will bring objects over to an adult especially to share his perceived accomplishment. Marcus has difficulty in playing cooperatively with his sister.He is independent with activities of daily living. Marcus is noted to have auditory defensiveness including covering his ears to loud noises and becoming distressed. Parents feel he is immature and inattentive for his age. Marcus responds well when a routine is followed.Previous testing about 2 years ago revealed significant language deficits on the Clinical Evaluation of Language Functioning with average scores on the Woodcock Johnson Achievement Testing and Test of Nonverbal Intelligence Version 3. Marcus was not referred for early intervention and he did not attend preschool. In a regular education Kindergarten, he received speech and occupational therapy along with reading and math support.Comments from teachers or evaluator include the following: Marcus looked to his peers for clues about what he should be doing. Marcus has great difficulty in understanding requests but seems to be interested in pleasing his teacher and others. Marcus' language difficulty makes socialization with his peers problematic; however, he is interested in interacting with them and they seem to accept him willingly. Marcus has intent to communicate with others but relies on visual support to decipher social situations. Marcus has difficulty in attending to details and moves from activity to activity quickly. His short attention span is likely impacting not only learning but also his ability to socially interact with peers.On the day you see him for his 7-year-old checkup, he brought many toys over to show his father and interrupted your conversation to get your attention intermittently throughout the examination. He immediately pointed out a lit ceiling tile with Nemo illuminated to show his father. Marcus does not have any notable or significant repetitive motor mannerisms or stereotypies reported or observed. Marcus' gesture use was appropriate for age and included both symbolic (directing eye gaze and pointing) and concrete (hands up to be picked up and touching an item rather than pointing to it) gestures. Play observed today, although immature for age, was novel, imaginative, and functional. Answers to questions did not always match the question posed. He had a difficult time waiting for his turn before interrupting a conversation. Visual cues were helpful in understanding what was expected of him and what was going on socially.Marcus' speech is notable for persistent stuttering and difficulty in turn-taking in conversation. He gets frustrated easily and has a hard time being understood. He continues to confuse pronouns and makes some grammatical errors. He is able to follow simple directions but has a hard time following complex or multistep directions with accuracy. Nonverbal communication includes pointing to objects of interest in order to share the experience ("Look mom!"). He will point to identify an object and can follow a point across the room. He is able to use his eye contact to direct yours to moderate social interactions.Marcus has a special interest in Thomas the Tank Engine Train and Disney movies but is able to move away from those topics to engage in other play interests. Repetitive behaviors are not noted. Toe walking, hand flapping, or spinning, or unusual hand motions or observation of objects were not observed.Difficulties noted today include delays in his receptive and expressive language, poor intelligibility, dysfluency, and impaired motor planning. He recently underwent an audiogram which was normal. You decide to refer to a specialist for further evaluation.
马库斯是一个英俊、可爱的 7 岁半男孩,他的发育有明显延迟,尤其是在言语和语言技能方面,以及社交互动方面存在困难,这导致其他专家担心他可能患有自闭症谱系障碍。他从出生起就在我们的初级保健诊所接受治疗。他足月顺产,体重 6 磅 6 盎司,出生过程中没有出现任何妊娠或分娩并发症。基因检测显示染色体正常、脆性 X 染色体和微阵列检测正常。马库斯是一个挑食者,睡眠质量很好,如厕训练也有延迟。他没有注意力缺陷多动障碍 (ADHD)、自闭症或药物滥用的家族史。他的外祖母和母亲都有学习困难的病史,而他的父亲和一个叔叔都有抑郁和焦虑的病史。马库斯生活在一个有母亲、父亲和妹妹的支持性环境中。马库斯在幼儿时期就明显存在语言迟缓、口吃和即时模仿等问题。粗大运动和精细运动技能都按时达到,但他直到 4 到 5 岁才开始说话或听从指令。作为一个年幼的孩子,他会假装在打电话或用假割草机割草,但对其他家庭活动不感兴趣。目前,他喜欢玩拼图、阅读和棋盘游戏。他喜欢和其他孩子一起玩,并且可以与熟悉的成年人互动。马库斯被报道会主动发起社交互动,尽管他在理解个人空间方面存在困难。他更喜欢想象性游戏而不是其他类型的游戏。他会寻求成人的关注,并会将物品拿给成人,尤其是与他们分享自己的成就感。马库斯与妹妹一起玩耍时合作能力较差。他的日常生活自理能力良好。马库斯存在听觉过敏问题,包括对大声噪音感到不适和苦恼。家长觉得他在同龄人中显得不成熟和注意力不集中。当遵循常规时,马库斯的反应良好。大约两年前的一次测试显示,他的语言功能临床评估得分较低,而伍德科克-约翰逊成就测试和非言语智力测试第 3 版的得分则处于平均水平。马库斯没有被转介到早期干预机构,也没有上过学前班。在一所普通教育幼儿园里,他接受了言语和职业治疗,同时还接受了阅读和数学方面的支持。老师或评估员的评价包括:马库斯会从同龄人那里寻找关于他应该做什么的线索。马库斯在理解请求方面有很大困难,但似乎有取悦老师和他人的意愿。马库斯的语言困难使得与同龄人进行社交互动变得困难;然而,他有与他们互动的意愿,他们也很乐意接受他。马库斯有与他人沟通的意图,但依赖视觉支持来理解社交情况。马库斯注意力不集中,这不仅影响了他的学习,还影响了他与同龄人进行社交互动的能力。在你为他进行 7 岁的体检时,他带来了很多玩具给父亲看,并在检查过程中不断打断你的谈话,以引起你的注意。他立即指出天花板上有一个亮着的尼莫图案,以向父亲展示。目前没有报告或观察到马库斯有任何显著的重复运动习惯或刻板行为。马库斯的手势使用符合年龄,包括象征性手势(直接注视和指向)和具体性手势(举手让人抱起和触摸物品,而不是指向物品)。今天观察到的游戏虽然不成熟,但具有创新性和功能性。他的回答并不总是与问题相符。他在打断谈话之前等待轮到自己的时间有困难。视觉提示有助于他理解对他的期望和社交互动的情况。马库斯的语言存在持续口吃和对话中轮流困难的问题。他很容易感到沮丧,也很难被理解。他仍然混淆代词,并犯一些语法错误。他能够听从简单的指令,但很难准确地听从复杂或多步骤的指令。非言语沟通包括指向感兴趣的物体,以分享体验(“看,妈妈!”)。他会指向某个物体以确定对象,并能在房间内跟着一个点的方向看。他能够用眼神交流来引导你进行适度的社交互动。马库斯对托马斯小火车和迪士尼电影特别感兴趣,但也能够转移注意力,参与其他游戏。没有注意到他有重复行为。没有观察到踮脚走、拍手、旋转、或异常手部动作或观察物体的情况。今天注意到的困难包括他的接受性和表达性语言、理解能力、不流畅和运动计划能力的延迟。他最近接受了听力测试,结果正常。你决定将他转介给专家进行进一步评估。