Genes, language development, and language disorders

Genetic factors are important contributors to language and learning disorders, and discovery of the underlying genes can help delineate the basic neurological pathways that are involved. This information, in turn, can help define disorders and their perceptual and processing deficits. Initial molecular genetic studies of dyslexia, for example, appear to converge on defects in neuronal and axonal migration. Further study of individuals with abnormalities of these genes may lead to the recognition of characteristic cognitive deficits attributable to the neurological dysfunction. Such abnormalities may affect other disorders as well, and studies of co-morbidity of dyslexia with attention deficit disorder and speech sound disorder are helping to define the scope of these genes and show the etiological and cognitive commonalities between these conditions. The genetic contributions to specific language impairment (SLI) are not as well defined at this time, but similar molecular approaches are being applied to identify genes that influence SLI and comorbid disorders. While there is co-morbidity of SLI with dyslexia, it appears that most of the common genetic effects may be with the language characteristics of autism spectrum disorders rather than with dyslexia and related disorders. Identification of these genes and their neurological and cognitive effects should lay out a functional network of interacting genes and pathways that subserve language development. Understanding these processes can form the basis for refined procedures for diagnosis and treatment.     

What can autism and dyslexia tell us about intelligence?

This paper argues that understanding developmental disorders requires developing theories and models that explicitly represent the role of general intelligence in the cognitive phenotype of the disorder. In the case of autism it is argued that the low-IQ scores of people with autism are not likely to be due to a deficit in the cognitive process that is arguably the major cause of mental retardation - namely, speed of processing - but rather low IQ reflects the pervasive and cascading effects of the deficit in the information-processing module that causes autism. In the case of dyslexia, two radically different models of reading disorder (ability = disability and a modular deficit model) are likely to be influenced by the effect of general intelligence on reading performance in ways that will remain unclear without an explicit model of how general intelligence influences reading.     

Cognitive deficits in developmental disorders

The existence of specific developmental disorders such as dyslexia and autism raises interesting issues about the structure of the normally developing mind. In these disorders distinct cognitive deficits can explain a range of behavioural impairments and have the potential to be linked to specific brain abnormalities. One possibility is that there are specific mechanisms dedicated to particular types of information processing. These mechanisms may function independently of more general information processing systems and may have a distinct anatomical basis in the brain.     

From single to multiple deficit models of developmental disorders

The emerging etiological model for developmental disorders, like dyslexia, is probabilistic and multifactorial while the prevailing cognitive model has been deterministic and often focused on a single cognitive cause, such as a phonological deficit as the cause of dyslexia. So there is a potential contradiction in our explanatory frameworks for understanding developmental disorders. This paper attempts to resolve this contradiction by presenting a multiple cognitive deficit model of developmental disorders. It describes how this model evolved out of our attempts to understand two comorbidities, those between dyslexia and attention deficit hyperactivity disorder (ADHD) and between dyslexia and speech sound disorder (SSD).     

Impaired task switching performance in children with dyslexia but not in children with autism

Problems with cognitive control in both autism and dyslexia have already been reported in different studies. The present study specifically examined task-switching performance in children with autism and dyslexia. For this purpose, a multiple-trial paradigm was used with cues for colour- and shape-matching tasks presented before a run of trials. The cue could imply a task switch (when the cue changed the task) or a task repetition (when the cue did not change the task). Both reaction times and error rates were measured for switching, restarting, and general task performance. Participants were children with autism (24) and with dyslexia (25) and healthy controls (27) with normal IQ and ages from 12 to 18 years. The main finding was that while similar switching performance was observed between children with autism and the healthy controls, children with dyslexia showed a significant switch-specific delay relative to both healthy controls and children with autism. Furthermore, no deficit in restarting performance was observed for any of the two patient groups. Finally, additional evidence is provided for a more general deficit in information processing in dyslexia. Our data suggest that children with autism are able to switch between tasks in a similar way as do normally developing children as long as the tasks are unambiguously specified. Furthermore, the data imply switch-specific deficits in dyslexia additionally to the deficits in general information processing already reported in the literature. The implications of our data are further discussed in relation to the interpretation of the Wisconsin Card Sorting Test.     

Tangled webs: tracing the connections between genes and cognition

The rise of molecular genetics is having a pervasive influence in a wide variety of fields, including research into neurodevelopmental disorders like dyslexia, speech and language impairments, and autism. There are many studies underway which are attempting to determine the roles of genetic factors in the aetiology of these disorders. Beyond the obvious implications for diagnosis, treatment and understanding, success in these efforts promises to shed light on the links between genes and aspects of cognition and behaviour. However, the deceptive simplicity of finding correlations between genetic and phenotypic variation has led to a common misconception that there exist straightforward linear relationships between specific genes and particular behavioural and/or cognitive outputs. The problem is exacerbated by the adoption of an abstract view of the nature of the gene, without consideration of molecular, developmental or ontogenetic frameworks. To illustrate the limitations of this perspective, I select two cases from recent research into the genetic underpinnings of neurodevelopmental disorders. First, I discuss the proposal that dyslexia can be dissected into distinct components specified by different genes. Second, I review the story of the FOXP2 gene and its role in human speech and language. In both cases, adoption of an abstract concept of the gene can lead to erroneous conclusions, which are incompatible with current knowledge of molecular and developmental systems. Genes do not specify behaviours or cognitive processes; they make regulatory factors, signalling molecules, receptors, enzymes, and so on, that interact in highly complex networks, modulated by environmental influences, in order to build and maintain the brain. I propose that it is necessary for us to fully embrace the complexity of biological systems, if we are ever to untangle the webs that link genes to cognition.     

Why specific developmental disorders are not specific: On-line and developmental effects in autism and dyslexia

In this paper we will suggest that impairments in domain-specific functions may have wide-ranging developmental effects which mimic domain-general impairments. This may explain why ‘pure’ cases of developmental disorders are rare. The understanding of autism and dyslexia has been advanced by theories postulating failure of a specific mechanism against a background of unimpaired general processing. Impairment in the mechanisms underlying ‘theory of mind’ in autism, and ‘phonology’ in dyslexia, predict and explain the pattern of poor and good performance on a range of experimental and real-life tasks. However, existing accounts deal largely with the on-line effects of modular deficits, and can be criticised as not truly developmental. Here we attempt to trace developmental or down-stream effects of specific impairments in mentalising and phonological processing. We argue that these modules act as vital gatekeepers in development. Important in this process is the interaction of cognition with socio-cultural environment, an effect well-illustrated by cross-language differences in dyslexia. We claim that consideration of these developmental effects makes clear why postulating specific impairments may be sufficient for explaining more general deficits.     

Why we need cognitive explanations of autism

In the 70 years since autism was described and named there have been huge changes in the conceptualization of this enigmatic condition. This review takes a personal perspective on the history of autism research. The origins of the first cognitive theories of autism, theory of mind and weak central coherence, are discussed and updated to inform future developments. Selected experimental findings are interpreted in the historical context of changes that have been brought about by advances in methodology. A three-level framework graphically illustrates a causal chain between brain, mind, and behaviour to facilitate the identification of phenotypes in neurodevelopmental disorders. Cognition is placed at the centre of the diagram to reveal that it can link together brain and behaviour, when there are complex multiple mappings between the different levels.     

脑干诱发电位在言语感知研究中的应用

脑干诱发电位是一种考察听觉脑干加工声音信号时神经活动的非侵入性技术, 近年来被广泛用于探索言语感知的神经基础。相关研究主要集中在考察成年人和正常发展儿童语音编码时脑干的活动特征及发展模式, 探讨发展性阅读障碍及其他语言损伤的语音编码缺陷及其神经表现等方面。在已有研究的基础上进一步探索初级语音编码和高级言语加工之间的相互作用机制, 考察阅读障碍的底层神经基础将成为未来该技术在言语感知研究中应用的重点。     

发展性阅读障碍亚类型研究进展

发展性阅读障碍是一种特殊的学习障碍,伴有多种认知缺陷并且存在不同的亚类型。依据相关的阅读模型理论,阅读障碍可划分为语音型和表层型。从认知缺陷角度出发,语音加工缺陷是主要的缺陷表现,以此为特征形成一种主要的阅读障碍的亚类型,同时还有以正字法加工缺陷和快速命名缺陷为主的其他亚类型。而以基本感知觉缺陷为标准,主要有以视觉加工缺陷和以听觉加工缺陷为主的两种亚类型。在汉语条件下,依据同样的阅读模型理论,语音型阅读障碍亚类型比例明显低于拼音文字条件下的。汉语阅读障碍也具有分别以语音加工缺陷、快速命名缺陷和正字法加工缺陷为主要认知缺陷的亚类型。未来有必要从神经机制角度进一步明确不同亚类型的神经基础。     

自闭症儿童语言认知发展理论研究综述

目前,关于语言障碍和认知障碍是自闭症的核心症候,这一点在国际上已无异议,但究其发展障碍的本质如何,则各种见解仍处于分歧之中。本文主要是从认知心理学和发展语言心理学的角度,对自闭症儿童的语言认知障碍及其特征进行分析,旨在为中国儿童自闭症的研究和治疗提供一些参考观点。     

Dyslexia and dyscalculia: Two learning disorders with different cognitive profiles

This study tests the hypothesis that dyslexia and dyscalculia are associated with two largely independent cognitive deficits, namely a phonological deficit in the case of dyslexia and a deficit in the number module in the case of dyscalculia. In four groups of 8- to 10-year-olds (42 control, 21 dyslexic, 20 dyscalculic, and 26 dyslexic/dyscalculic), phonological awareness, phonological and visual-spatial short-term and working memory, naming speed, and basic number processing skills were assessed. A phonological deficit was found for both dyslexic groups, irrespective of additional arithmetic deficits, but not for the dyscalculia-only group. In contrast, deficits in processing of symbolic and nonsymbolic magnitudes were observed in both groups of dyscalculic children, irrespective of additional reading difficulties, but not in the dyslexia-only group. Cognitive deficits in the comorbid dyslexia/dyscalculia group were additive; that is, they resulted from the combination of two learning disorders. These findings suggest that dyslexia and dyscalculia have separable cognitive profiles, namely a phonological deficit in the case of dyslexia and a deficient number module in the case of dyscalculia.     

The neurocognitive basis of autism

The cognitive study of the underlying mental abnormalities in autism has advanced rapidly, while the biological study of the underlying brain abnormalities and of putative genetic mechanisms is lagging somewhat behind. However, the linking of cognitive and biological studies has become a real possibility. Developmental cognitive neuroscience has transformed our understanding of this enigmatic disorder, which was once misguidedly thought to be caused by maternal rejection. The hypothesis of a specific theory of mind deficit was a crucial step in this process. It explains the puzzle of the characteristic social and communication impairments of autism and allows for the fact that they can coexist with good general abilities. This hypothesis has been widely accepted and a start has been made at pinpointing the brain basis of theory of mind. The non-social impairments of autism have now become a major focus for cognitive research. One theory proposes dysfunction in executive processes, in an attempt to explain repetitive behaviour and inflexibility. Another theory proposes weak information integration, in an attempt to explain narrow interests and special talents. Autism research has thus stimulated ideas on important mind-brain systems that may be dedicated to the development of social awareness, executive functions and integrative processing.     

Performance-based measures in autism: implications for diagnosis, early detection, and identification of cognitive profiles

Provides a critical review of performance-based assessment measures in autism. Currently, performance-based measures of autism are being explored in two domains: structured play sessions and cognitive-neuropsychological assessments. Structured play sessions are designed to elicit the behavioral symptoms associated with autism to provide a consistent and valid means of early detection and diagnosis of autism across different evaluators and settings. These structured play sessions provide a supplement to diagnostic instruments based on parental report. Cognitive-neuropsychological tasks have been used to identify possible underlying cognitive impairments in autism including executive function, theory of mind, selective attention, and abstraction. Currently, cognitive tasks are useful in treatment planning but are inappropriate for diagnostic purposes. Important goals for the future will be to integrate parent-report diagnostic interviews and structured play observations and to identify a profile of cognitive impairments that are specific to pervasive developmental disorders that can be incorporated into diagnostic protocols.     

Neural dissociation of phonological and visual attention span disorders in developmental dyslexia: FMRI evidence from two case reports

A dissociation between phonological and visual attention (VA) span disorders has been reported in dyslexic children. This study investigates whether this cognitively-based dissociation has a neurobiological counterpart through the investigation of two cases of developmental dyslexia. LL showed a phonological disorder but preserved VA span whereas FG exhibited the reverse pattern. During a phonological rhyme judgement task, LL showed decreased activation of the left inferior frontal gyrus whereas this region was activated at the level of the controls in FG. Conversely, during a visual categorization task, FG demonstrated decreased activation of the parietal lobules whereas these regions were activated in LL as in the controls. These contrasted patterns of brain activation thus mirror the cognitive disorders’ dissociation. These findings provide the first evidence for an association between distinct brain mechanisms and distinct cognitive deficits in developmental dyslexia, emphasizing the importance of taking into account the heterogeneity of the reading disorder.     

基于PASS模型的汉语阅读障碍认知加工特点的实验研究

研究以智力的PASS认知模型为基础,考察了3-5年级阅读障碍组和正常对照组的PASS认知加工特点,探究汉语阅读障碍儿童的PASS认知缺陷模式,为后期的干预提供理论上的支持和帮助。结果发现,PASS四个认知加工均存在明显的年级差异,低年级儿童的PASS认知加工能力明显不如中高年级儿童。汉语阅读障碍儿童在DN: CAS 12项分任务上的成绩均低于正常对照组儿童。同时,大多数汉语阅读障碍儿童存在不止一种的PASS认知加工缺陷,即汉语发展性阅读障碍内部是一个异质群体;阅读障碍儿童在继时性加工上存在的问题最为严重,存在缺陷的人数也最多。     

Atypical cognitive disorders in a man with developmental surface dyslexia

The neuropsychological profile of a man with a developmental surface dyslexia is presented here. This case study is of interest because J.C. exhibited a pattern of cognitive disorders rarely documented in previous data. Results showed that JC's difficulties in reading comprehension were closely related to complex memory disorders and were also associated with cognitive slowness. The present observations do not support the visual memory failure hypothesis. The data rather suggest that the core difficulty primarily lies with the nonautomatization of grapheme-phoneme correspondence rules, which in turn dramatically contributed to lexicon weaknesses. The hypothesis of a timing mechanism in reading disorders is discussed.