Rapin Isabelle, Dunn Michelle
Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY, USA.
Brain Dev. 2003 Apr;25(3):166-72. doi: 10.1016/s0387-7604(02)00191-2.
Inadequate language is a defining feature of the autism spectrum disorders (autism). Autism is a behaviorally and dimensionally defined developmental disorder of the immature brain that has a broad range of severity and many etiologies, with multiple genes involved. Early studies, which focused on the language of verbal children on the autistic spectrum, emphasized aberrant features of their speech such as unusual word choices, pronoun reversal, echolalia, incoherent discourse, unresponsiveness to questions, aberrant prosody, and lack of drive to communicate. Persistent lack of speech of some individuals was attributed to the severity of their autism and attendant mental retardation rather than possible inability to decode auditory language. Clinical study of unselected children with autism indicated that the language deficits of preschoolers fall into two broad types, perhaps with subtypes, those that involve reception and production of phonology (sounds of speech) and syntax (grammar), and those that do not but involve semantics (meaning) and pragmatics (communicative use of language, processing, and production of discourse). Except for the preschoolers' universally deficient pragmatics and comprehension of speech, many of their language deficits parallel those of non-autistic preschoolers with developmental language disorders. There is now biological support for the clinical observation that young autistic children are language disordered as well as autistic. Recent electrophysiological studies disclose auditory input abnormalities in lateral temporal cortex even in verbal individuals on the autistic spectrum. Severe receptive deficits for phonology enhance the risk for epilepsy. Genetic studies indicate that linkage to chromosome 7q31-33 is limited to families with evidence for phonologic impairment as well as autism. Clearly, social and cognitive disorders alone provide an inadequate explanation for the range of language deficits in autism.
语言能力不足是自闭症谱系障碍(自闭症)的一个典型特征。自闭症是一种行为和维度上定义的发育性疾病,源于未成熟大脑,严重程度范围广泛,病因众多,涉及多个基因。早期研究聚焦于自闭症谱系中有语言能力儿童的语言,强调其言语的异常特征,如用词异常、代词倒置、模仿言语、语篇不连贯、对问题无反应、韵律异常以及缺乏交流动力。一些个体持续缺乏言语能力被归因于自闭症的严重程度以及伴随的智力迟钝,而非可能无法解码听觉语言。对未筛选的自闭症儿童的临床研究表明,学龄前儿童的语言缺陷可分为两大类,可能还有子类型,一类涉及语音(言语声音)和句法(语法)的接收与生成,另一类则不涉及,但涉及语义(意义)和语用(语言的交际使用、语篇处理和生成)。除了学龄前儿童普遍存在的语用和言语理解缺陷外,他们的许多语言缺陷与患有发育性语言障碍的非自闭症学龄前儿童相似。现在有生物学证据支持临床观察结果,即年幼的自闭症儿童不仅患有自闭症,还存在语言障碍。最近的电生理研究揭示,即使是自闭症谱系中有语言能力的个体,其颞叶外侧皮质也存在听觉输入异常。严重的语音接收缺陷会增加患癫痫的风险。基因研究表明,与7号染色体q31 - 33区域的连锁仅限于有语音障碍及自闭症证据的家族。显然,仅社会和认知障碍不足以解释自闭症中语言缺陷的范围。