Developmental cognitive genetics: how psychology can inform genetics and vice versa

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination.     

Developmental cognitive genetics: How psychology can inform genetics and vice versa

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination.     

Genetic influences on language impairment and phonological short-term memory

It has been known for some years that specific language impairment (SLI), an unexpected failure to acquire age-appropriate language skills, is highly heritable. However, molecular genetic studies have been hampered by the heterogeneity of the disorder and the predominant lack of clear genotype-phenotype relationships. We review recent studies suggesting that a better understanding of the genetics of SLI might emerge if we move away from clinical criteria for diagnosis to look instead at a theoretically based quantitative and cognitive measure of the phenotype: a test of phonological short-term memory (STM). Deficient phonological STM has been linked to specific genetic loci, and might play a role in determining some types of reading impairment as well as SLI. Identifying those cognitive deficits that work best as indices of heritable phenotypes will help us to uncover the aetiology of developmental disorders.     

特殊言语损伤研究及其进展

特殊言语损伤(specific language impairment．SLI)指在正常语言学习环境下,在没有听力缺陷、智力迟钝、神经或精神损伤的情况下,言语能力得不到正常发展。近十几年来,国外出现出了许多SLI的研究,但国内这方面研究还比较欠缺。文章综述了国外SLI的研究现状,分析了SLI的影响因素,并介绍了对SLI的理论解释。     

MRI findings in boys with specific language impairment

Magnetic resonance imaging scans of specifically language-impaired (SLI) boys were examined to determine whether atypical cerebral findings could be documented in children whose primary deficits were in language skills. Clinical examination of the scans failed to reveal any visually obvious lesions or abnormalities. In contrast, measurement of the scans revealed atypical perisylvian asymmetries in most of these subjects. The distribution of perisylvian asymmetries in SLI subjects was significantly different from the distribution in controls (p less than .01). Measurement of other brain regions revealed that extraperisylvian areas were occasionally deviant in individual SLI subjects; but no one region was consistently deviant across the SLI group. Thus, only atypical perisylvian asymmetries were linked to the language disorder. These neuroanatomical findings suggest that a prenatal alteration of brain development underlies specific language impairment.     

What Causes Specific Language Impairment in Children?

ABSTRACT— Specific language impairment (SLI) is diagnosed when a child's language development is deficient for no obvious reason. For many years, there was a tendency to assume that SLI was caused by factors such as poor parenting, subtle brain damage around the time of birth, or transient hearing loss. Subsequently it became clear that these factors were far less important than genes in determining risk for SLI. A quest to find "the gene for SLI" was undertaken, but it soon became apparent that no single cause could account for all cases. Furthermore, although fascinating cases of SLI caused by a single mutation have been discovered, in most children the disorder has a more complex basis, with several genetic and environmental risk factors interacting. The clearest evidence for genetic effects has come from studies that diagnosed SLI using theoretically motivated measures of underlying cognitive deficits rather than conventional clinical criteria.     

The effects of presentation and content on syllogistic reasoning by children with and without specific language impairment

This study examines performance at a syllogistic reasoning task for a group of children (age 10 years) with specific language impairment (SLI) along with age- and language-matched controls. The syllogisms were presented either verbally or verbally/pictorially, and contained two types of item: imaginary versus real, both intended not to evoke strong beliefs. Children with SLI performed worse than age-matched controls, and equivalently to language-matched controls. Patterns of performance indicate this may be due to cognitive ability deficits rather than specific language deficits. For all groups, pictorial presentation interfered with reasoning processes. It is suggested that, for syllogisms, this pictorial information contextualises the interpretation of the task, and that in turn either raises working memory load or evokes belief bias. Additionally, these results suggest that caution should be exhibited before using visual aids to help children with SLI in the classroom.     

Developmental dyslexia and specific language impairment: same or different?

Developmental dyslexia and specific language impairment (SLI) were for many years treated as distinct disorders but are now often regarded as different manifestations of the same underlying problem, differing only in severity or developmental stage. The merging of these categories has been motivated by the reconceptualization of dyslexia as a language disorder in which phonological processing is deficient. The authors argue that this focus underestimates the independent influence of semantic and syntactic deficits, which are widespread in SLI and which affect reading comprehension and impair attainment of fluent reading in adolescence. The authors suggest that 2 dimensions of impairment are needed to conceptualize the relationship between these disorders and to capture phenotypic features that are important for identifying neurobiologically and etiologically coherent subgroups.     

Children with Specific Language Impairment are not impaired in the acquisition and retention of Pavlovian delay and trace conditioning of the eyeblink response

Three converging lines of evidence have suggested that cerebellar abnormality is implicated in developmental language and literacy problems. First, some brain imaging studies have linked abnormalities in cerebellar grey matter to dyslexia and specific language impairment (SLI). Second, theoretical accounts of both dyslexia and SLI have postulated impairments of procedural learning and automatisation of skills, functions that are known to be mediated by the cerebellum. Third, motor learning has been shown to be abnormal in some studies of both disorders. We assessed the integrity of face related regions of the cerebellum using Pavlovian eyeblink conditioning in 7–11 year-old children with SLI. We found no relationship between oral language skills or literacy skills with either delay or trace conditioning in the children. We conclude that this elementary form of associative learning is intact in children with impaired language or literacy development.     

Genetics of autism spectrum disorders

Characterized by a combination of abnormalities in language, social cognition and mental flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly referred to as autism spectrum disorder (ASD). Several dozen ASD susceptibility genes have been identified in the past decade, collectively accounting for 10-20% of ASD cases. These findings, although demonstrating that ASD is etiologically heterogeneous, provide important clues about its pathophysiology. Diverse genetic and genomic approaches provide evidence converging on disruption of key biological pathways, many of which are also implicated in other allied neurodevelopmental disorders. Knowing the genes involved in ASD provides us with a crucial tool to probe both the specificity of ASD and the shared neurobiological and cognitive features across what are considered clinically distinct disorders, with the goal of linking gene to brain circuits to cognitive function.     

Deficits in acquiring language structure: The importance of using prosodic cues

The study investigates and supports the hypothesis that (1) specifically language-impaired (SLI) children have deficits in processing and using the rhythmic-prosodic structure of speech; and that (2) these deficits impede the implicit learning of formal regularities of input language. The ability of SLI children to exploit prosodic cues in rule learning was tested in an experimental design using a miniature language. Twenty-four SLI children (mean age 6;5) learned a small set of sentences generated by a content-free rule system. The sample sentences were presented either with or without prosodic cues to the underlying formal regularities. The experimental groups were matched by various cognitive and language indicators. To assess whether they had acquired some regularities of the miniature language, a grammaticality judgement task was presented. In addition, their ability to reproduce rule-structured and rule-violating strings was tested. The experimental as well as some additional correlational data support the basic theoretical assumptions. The children had deficits in processing and exploiting prosodic cues in rule learning, and these deficits covaried with their rhythmic ability as indicated by a rhythm discrimination task.     

Categorical speech perception deficits distinguish language and reading impairments in children

We examined categorical speech perception in school‐age children with developmental dyslexia or Specific Language Impairment (SLI), compared to age‐matched and younger controls. Stimuli consisted of synthetic speech tokens in which place of articulation varied from ‘b’ to ‘d’. Children were tested on categorization, categorization in noise, and discrimination. Phonological awareness skills were also assessed to examine whether these correlated with speech perception measures. We observed similarly good baseline categorization rates across all groups; however, when noise was added, the SLI group showed impaired categorization relative to controls, whereas dyslexic children showed an intact profile. The SLI group showed poorer than expected between‐category discrimination rates, whereas this pattern was only marginal in the dyslexic group. Impaired phonological awareness profiles were observed in both the SLI and dyslexic groups; however, correlations between phonological awareness and speech perception scores were not significant. The results of the study suggest that in children with language and reading impairments, there is a significant relationship between receptive language and speech perception, there is at best a weak relationship between reading and speech perception, and indeed the relationship between phonological and speech perception deficits is highly complex.     

The attentional blink reveals sluggish attentional shifting in adolescents with specific language impairment

Rapid processing deficits have been the subject of much debate in the literature on specific language impairment (SLI). Hari and Renvall (2001) [Hari, R. & Renvall, H. (2001). Impaired processing of rapid stimulus sequences in dyslexia. Trends in cognitive sciences, 5, 525-532.] proposed that the source of this deficit can be attributed to sluggish attentional shifting abilities. That is, more time is required to shift attention between stimuli. To test this claim, 26 adolescents with SLI (divided into two subgroups to control for differences in non-verbal intelligence) and 14 controls were presented with a rapid serial visual presentation task. In this task participants were asked to detect two visual targets presented serially with distracter items with varying inter-target intervals (i.e., time difference between targets). This task was designed to elicit an attentional blink (AB). The AB describes the phenomenon whereby non-impaired individuals are less likely to report the second of two targets presented within 200-500ms of each other. After controlling for group differences in non-verbal intelligence, the SLI group was found to be significantly less accurate than the control group at successfully reporting the second target at inter-target intervals of 100, 200, 300, 400 and 800ms. The results were interpreted to suggest that adolescents with language impairments have an AB which differs from non-impaired individuals in both magnitude and duration.     

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.     

A comparison of working memory profiles in school-aged children with Specific Language Impairment, Attention Deficit/Hyperactivity Disorder, Comorbid SLI and ADHD and their typically developing peers

The association between specific language impairment (SLI), attention deficit/hyperactivity disorder (ADHD), and working memory (WM) was examined. WM has been implicated in language acquisition and models of ADHD; however, evidence for WM deficits in SLI and ADHD has been inconsistent. The components of Baddeley's WM model were investigated in 18 children with SLI, 16 children with ADHD, 11 children with comorbid SLI+ADHD, and 24 typically developing (TD) children. The presence of SLI resulted in deficits in more components of WM than the presence of ADHD indicating that children with SLI are more vulnerable to WM deficits than those with ADHD.     

A comparison of working memory profiles in school-aged children with Specific Language Impairment,Attention Deficit/Hyperactivity Disorder,Comorbid SLI and ADHD and their typically developing peers

The association between specific language impairment (SLI), attention deficit/hyperactivity disorder (ADHD), and working memory (WM) was examined. WM has been implicated in language acquisition and models of ADHD; however, evidence for WM deficits in SLI and ADHD has been inconsistent. The components of Baddeley's WM model were investigated in 18 children with SLI, 16 children with ADHD, 11 children with comorbid SLI+ADHD, and 24 typically developing (TD) children. The presence of SLI resulted in deficits in more components of WM than the presence of ADHD indicating that children with SLI are more vulnerable to WM deficits than those with ADHD.     

Domain-specific cognitive systems: insight from Grammatical-SLI

Specific language-impairment (SLI) is a disorder of language acquisition in children who otherwise appear to be normally developing. Controversy surrounds whether SLI results from impairment to a "domain-specific" system devoted to language itself or from some more "domain-general" system. I compare these two views of SLI, and focus on three components of grammar that are good candidates for domain-specificity: syntax, morphology and phonology. I argue that the disorder is heterogeneous, and that deficits of different subgroups potentially stem from different underlying causes. Interestingly, although poor sensory or non-verbal abilities often co-occur with SLI, there is no evidence that these impairments cause the grammatical deficits found in SLI. Moreover, evidence suggests that impairment in at least one subgroup is specific to grammar.     

Co-localisation of abnormal brain structure and function in specific language impairment

We assessed the relationship between brain structure and function in 10 individuals with specific language impairment (SLI), compared to six unaffected siblings, and 16 unrelated control participants with typical language. Voxel-based morphometry indicated that grey matter in the SLI group, relative to controls, was increased in the left inferior frontal cortex and decreased in the right caudate nucleus and superior temporal cortex bilaterally. The unaffected siblings also showed reduced grey matter in the caudate nucleus relative to controls. In an auditory covert naming task, the SLI group showed reduced activation in the left inferior frontal cortex, right putamen, and in the superior temporal cortex bilaterally. Despite spatially coincident structural and functional abnormalities in frontal and temporal areas, the relationships between structure and function in these regions were different. These findings suggest multiple structural and functional abnormalities in SLI that are differently associated with receptive and expressive language processing.     

The role of language in mathematical development: evidence from children with specific language impairments

A sample (n=48) of eight-year-olds with specific language impairments is compared with age-matched (n=55) and language matched controls (n=55) on a range of tasks designed to test the interdependence of language and mathematical development. Performance across tasks varies substantially in the SLI group, showing profound deficits in production of the count word sequence and basic calculation and significant deficits in understanding of the place-value principle in Hindu-Arabic notation. Only in understanding of arithmetic principles does SLI performance approximate that of age-matched-controls, indicating that principled understanding can develop even where number sequence production and other aspects of number processing are severely compromised.     

Atypical speech lateralization in adults with developmental coordination disorder demonstrated using functional transcranial Doppler ultrasound

Research using clinical populations to explore the relationship between hemispheric speech lateralization and handedness has focused on individuals with speech and language disorders, such as dyslexia or specific language impairment (SLI). Such work reveals atypical patterns of cerebral lateralization and handedness in these groups compared to controls. There are few studies that examine this relationship in people with motor coordination impairments but without speech or reading deficits, which is a surprising omission given the prevalence of theories suggesting a common neural network underlying both functions. We use an emerging imaging technique in cognitive neuroscience; functional transcranial Doppler (fTCD) ultrasound, to assess whether individuals with developmental coordination disorder (DCD) display reduced left‐hemisphere lateralization for speech production compared to control participants. Twelve adult control participants and 12 adults with DCD, but no other developmental/cognitive impairments, performed a word‐generation task whilst undergoing fTCD imaging to establish a hemispheric lateralization index for speech production. All participants also completed an electronic peg‐moving task to determine hand skill. As predicted, the DCD group showed a significantly reduced left lateralization pattern for the speech production task compared to controls. Performance on the motor skill task showed a clear preference for the dominant hand across both groups; however, the DCD group mean movement times were significantly higher for the non‐dominant hand. This is the first study of its kind to assess hand skill and speech lateralization in DCD. The results reveal a reduced leftwards asymmetry for speech and a slower motor performance. This fits alongside previous work showing atypical cerebral lateralization in DCD for other cognitive processes (e.g., executive function and short‐term memory) and thus speaks to debates on theories of the links between motor control and language production.