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WIREs Cogn Sci
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Space and language in Williams syndrome: insights from typical development

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One of the holy grails of cognitive science is to understand the causal chain that links genes and cognition. Genetic syndromes accompanied by cognitive effects offer natural experiments that can uniquely inform our understanding of this chain. In this article, we discuss the case of Williams syndrome (WS), which is characterized by a set of missing genes on chromosome 7q11.23, and presents with a unique cognitive profile that includes severe spatial impairment along with strikingly fluent and well‐structured language. An early inference from this profile was the idea that a small group of genes could directly target one cognitive system while leaving others unaffected. Recent evidence shows that this inference fails. First, the profile within the spatial domain is varied, with relative strength in some aspects of spatial representation but severe impairment in others. Second, some aspects of language may fail to develop fully, raising the question of how to compare the resilience and fragility of the two key cognitive domains in this syndrome. Third, much research on the profile fails to place findings in the context of typical developmental trajectories. We explore these points and propose a new hypothesis that explains the unusual WS cognitive profile by considering normal mechanisms of cognitive development that undergo change on an extremely prolonged timetable. This hypothesis places the elements of the WS cognitive profile in a new light, refocuses the discussion of the gene–cognition causal chain for WS and other disorders, and more generally, underlines the importance of understanding cognitive structure in both typical and atypical development. WIREs Cogn Sci 2013, 4:693–703. doi: 10.1002/wcs.1258 This article is categorized under: Psychology > Brain Function and Dysfunction Psychology > Language Neuroscience > Development
Mean percent correct as a function of viewpoint presentation (canonical versus unusual). Separate lines correspond to different groups [4's: typically developing 4‐year olds; MA: mental age matches to WS participants (mean age = 5;8); CA: chronological age matches to WS participants (mean age = 11;11); AD: normal adults; WS: Williams Syndrome (mean age = 11;0).] Children with WS performed as well as CA matches for canonical presentation, but only as well as typically developing 4‐year olds and MA matches for unusual presentation. Overall, unusual views have a more protracted developmental time course than canonical views in both typically developing children and people with WS. (Reprinted with permission from Ref . Copyright 2012 Oxford University Press)
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(a) Orientation discrimination threshold (geometric mean) as a function of participant group. Discrimination becomes adult‐like after the age of 6 years in typically developing children, and is at the level of normal 3–4‐year olds in adolescents and adults with WS. This suggests that orientation discrimination typically develops over a lengthy trajectory, and is functionally immature in adolescents and adults with WS. (b) Orientation integration (contour detection) sensitivity as a function of participant group. Integration sensitivity becomes adult‐like after the age of 4 years in typically developing children, and is at the level of normal adults in adolescents and adults with WS. This suggests that orientation integration in WS is functionally mature. This pattern is consistent with the idea that spatial functions that typically develop early (such as orientation integration) reach maturity in people with WS, but functions that typically develop over a lengthy trajectory (such as orientation discrimination) do not reach maturity in people with WS, even in adulthood. (Reprinted with permission from Ref . Copyright 2008 Elsevier Inc.)
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Radial plots of individual responses for each target orientation in the Action task. Individual responses are denoted by nonbolded lines and the rectangular box indicates the 10° allowance around the target slot. [MA controls ranged in age from 4;7 to 9;6 (mean = 6;3), WS children ranged in age from 8;3 to 16;2 (mean = 12;0); WS adults ranged in age from 19;3 to 32;3 (mean = 23;9)]. WS children and adults both showed the same profile as typically developing 3–4‐year olds, which was more errorful than the MA controls. (Reprinted with permission from Ref . Copyright 2008 John Wiley and Sons, and Ref . Copyright 2012 Oxford University Press).
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Model of hypothesized mechanisms underlying the WS spatial and linguistic profile. The model shows a hypothetical developmental curve for early emerging spatial and language functions (blue), contrasted with those that are late emerging (red). People with WS are hypothesized to undergo very slow development for both spatial and language functions, followed by arrest, resulting in a mature cognitive profile that resembles that of a typically developing 4–6 year‐old (and indicated by the vertical dashed line; see text for discussion). (see text for discussion). (Reprinted with permission from Ref . Copyright 2012 Oxford University Press.
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Results from Lakusta et al. Values indicate the average proportion of search (and SEs) at each corner (C = correct, R = rotationally equivalent, N = near, and F = far) for the WS participants in Experiment 1 (a, four black walls; b, one blue wall) and Experiment 2 (c, four black walls, no disorientation). In a, searches were evenly distributed among the corners of the room with four black walls, showing lack of sensitivity to the geometric layout. In b, the proportion of search at the correct corner (.52) is higher than that at the other three corners. This shows that participants often used the landmark cue of the blue wall to help them locate the hidden target. In c, participants were highly accurate when they were not disoriented. (Reprinted with permission from Ref . Copyright 2010 National Academy of Sciences, and Ref . Copyright 2012 Oxford University Press).
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Neuroscience > Development
Psychology > Language
Psychology > Brain Function and Dysfunction

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