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

Department of Experimental Psychology, University of Oxford, Oxford, UK.
Quarterly journal of experimental psychology (2006) (Impact Factor: 2.13). 08/2006; 59(7):1153-68. DOI: 10.1080/17470210500489372
Source: PubMed


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.

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Available from: Dorothy Vera Margaret Bishop
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    • "With the new advances in the genome studies, an important step forward has been done identifying some possible genes as the providers for language and their pattern of inheritance (SLI Consortium, 2004). SLI is a composite of abilities with an important genetic component , confirmed through family aggregation studies (Barry, Yasin, & Bishop, 2007), and twin studies (Bishop and Norbury, 2002; Bishop, 2006). The first chromosome locus related with SLI was region 7q31, identified in KE family (Gopnik & Crago, 1991 ). "
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    ABSTRACT: Purpose: Three members of a family, one of each generation, are studied in order to obtain their SLI language profile, together with motor and cognitive data. Additional information on the absence of FOXP2 mutations is also provided. Method: The language profile is twofold: natural conversation and language tests, and an evaluation of their cognitive abilities, oral-motor praxis, and laterality. Results: Cognitive abilities (short term and procedural working memory, perception, conceptual and coherence strategies) are not at the average level. General oral fine mobility (not the speech apraxia), fluency and auditory phonetic discrimination are impaired at different degrees. The language phenotype exhibits lexical as well as syntactic processing difficulties as the main impairments. The language competence of the adult members is simple but sufficient for everyday communication. Conclusions: The long-standing language competence results of SLI show an adaptation in terms of simplicity, high frequency strategies, and pragmatic resources. Language profile, sensory-motor abilities and cognition favour a non-specific approach to the language acquisition impairment.
    Full-text · Article · Sep 2015 · Revista de Logopedia, Foniatria y Audiologia
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    • "Theoretically, recent multi-deficit models of neurodevelopmental disorders such as dyslexia and SLI emphasize the substantial co-morbidity and the etiological and cognitive overlap of reading and language disorders (Pennington & Bishop, 2009) and call for accounts of the commonalities between different disorders (Bishop & Rutter, 2008). These models stress the multifaceted nature of developmental disorders (Pennington, 2006; Pennington & Bishop, 2009) and that more than a single risk factor or deficit are required to give rise to a clinically significant manifestation (Bishop, 2006a; Snowling, 2008). Based on these models, we now hypothesize that "
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    ABSTRACT: Sensitivity to perceptual context (anchoring) has been suggested to contribute to the development of both oral- and written-language skills, but studies of this idea in children have been rare. To determine whether deficient anchoring contributes to the phonological memory and word learning deficits of children with specific language impairment (SLI). 84 preschool children with and without SLI participated in the study. Anchoring to repeated items was evaluated in two tasks - a phonological memory task and a pseudo-word learning task. Compared to children with typical development, children with SLI had poorer phonological memory spans and learned fewer words during the word learning task. In both tasks the poorer performance of children with SLI reflected a smaller effect of anchoring that was manifested in a smaller effect of item repetition on performance. Furthermore, across the entire sample anchoring was significantly correlated with performance in vocabulary and grammar tasks. These findings are consistent with the hypothesis that anchoring contributes to language skills and that children with SLI have impaired anchoring, although further studies are required to determine the role of anchoring in language development. Copyright © 2015 Elsevier Ltd. All rights reserved.
    Full-text · Article · Aug 2015 · Research in developmental disabilities
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    • "Future studies will be needed to identify alternative causes for these deficits. According to Bishop (2006, p. 1166), " a single cause approach is too simple to account for clinical reality. " For example, our findings reflect weaknesses in auditory processing in children with SLI. "
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    ABSTRACT: It has been suggested that the language problems encountered in specific language impairment (SLI) arise from basal ganglia abnormalities that lead to impaired procedural memory. However, recent serial reaction time (SRT) studies did not reveal any differences between the SLI and typically developing (TD) groups on the measures of procedural memory linked to visual sequence learning. In this paper, 16 children with and without SLI were compared on two versions of SRT tasks: a visual task and an auditory one. The results showed that children with SLI were as fast as their TD peers in both modalities. All of the children obtained similar specific sequence learning indices, indicating that they were able to detect regularities in both modalities. Although children with SLI were as accurate as their TD peers for the visual SRT task, they made more errors than their TD peers in auditory SRT conditions. The results indicate that, in relation to procedural memory, the core of the impairment in SLI is not linked to difficulties in the detection of regularities. We argue that when children with SLI present some difficulties, the children's weaknesses might depend on the type of processing involved (e.g., tasks involving auditory sequences).
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