Face recognition ability is often reported to be a relative strength in Williams syndrome (WS). Yet methodological issues associated with the supporting research, and evidence that atypical face processing mechanisms may drive outcomes ?in the typical range?, challenge these simplistic characterisations of this important social ability. Detailed investigations of face processing abilities in WS both at a behavioural and neural level provide critical insights. Here, we behaviourally characterised face recognition ability in 18 individuals with WS comparatively to typically developing children and adult control groups. A subset of 11 participants with WS as well as chronologically age matched typical adults further took part in an EEG task where they were asked to attentively view a series of upright and inverted faces and houses. State-of-the-art multivariate pattern analysis (MVPA) was used alongside standard ERP analysis to obtain a detailed characterisation of the neural profile associated with 1) viewing faces as an overall category (by examining neural activity associated with upright faces and houses), and to 2) the canonical upright configuration of a face, critically associated with expertise in typical development and often linked with holistic processing (upright and inverted faces). Our results show that while face recognition ability is not on average at a chronological age-appropriate level in individuals with WS, it nonetheless appears to be a relative strength within their cognitive profile. Furthermore, all participants with WS revealed a differential pattern of neural activity to faces compared to objects, showing a distinct response to faces as a category, as well as a differential neural pattern for upright vs. inverted faces. Nonetheless, an atypical profile of face orientation classification was found in WS, suggesting that this group differs from typical individuals in their face processing mechanisms. Through this innovative application of MVPA, alongside the high temporal resolution of EEG, we provide important new insights into the neural processing of faces in WS.
ndividuals with Williams syndrome typically show relatively poor visuospatial abilities in comparison to stronger verbal skills. However, individuals' level of performance is not consistent across all visuospatial tasks. The studies assessing visuospatial functioning in Williams syndrome are critically reviewed, to provide a clear pattern of the relative difficulty of these tasks. This prompts a possible explanation of the variability in performance seen, which focuses on the processing demands of some of these tasks. Individuals with Williams syndrome show an atypical processing style on tests of construction, which does not affect tests of perception.
Face processing abilities vary across the life span: increasing across childhood and adolescence, peaking around 30 years of age, and then declining. Despite extensive investigation, researchers have yet to identify qualitative changes in face processing during development that can account for the observed improvements on laboratory tests. The current study constituted the first detailed characterization of face processing strategies in a large group of typically developing children and adults (N = 200) using a novel adaptation of the Bubbles reverse correlation technique (Gosselin & Schyns, 2001). Resultant classification images reveal a compelling age-related shift in strategic information use during participants? judgments of face identity. This shift suggests a move from an early reliance upon high spatial frequency details around the mouth, eye-brow and jaw-line in young children (~8 years) to an increasingly more interlinked approach, focused upon the eye region and the center of the face in older children (~11 years) and adults. Moreover, we reveal that the early versus late phases of this developmental trajectory correspond with the profiles of information use observed in weak versus strong adult face processors. Together, these results provide intriguing new evidence for an important functional role for strategic information use in the development of face expertise.
Unusual patterns of fixation behavior in individuals with autism spectrum disorder during face tasks hint at atypical processing strategies that could contribute to diminished face expertise in this group. Here, we use the Bubbles reverse correlation technique to directly examine face-processing strategies during identity judgments in children with and without autism, and typical adults. Results support a qualitative atypicality in autistic face processing. We identify clear differences not only in the specific features relied upon for face judgments, but also more generally in the extent to which they demonstrate a flexible and adaptive profile of information use.
Spatial thinking is an important predictor of mathematics. However, existing data do not determine whether all spatial sub-domains are equally important for mathematics outcomes nor whether mathematics-spatial associations vary through development. This study addresses these questions by exploring the developmental relations between mathematics and spatial skills in children aged 6 -10 years (N = 155). We extend previous findings by assessing and comparing performance across Uttal et al.'s (2013), four spatial sub-domains. Overall spatial skills explained 5-14% of the variation across three mathematics performance measures (standardised mathematics skills, approximate number sense and number line estimation skills), beyond other known predictors of mathematics including vocabulary and gender. Spatial scaling (extrinsic-static sub-domain) was a significant predictor of all mathematics outcomes, across all ages, highlighting its importance for mathematics in middle childhood. Other spatial sub-domains were differentially associated with mathematics in a task and age dependent manner. Mental rotation (intrinsic-dynamic skills) was a significant predictor of mathematics at 6 and 7 years only which suggests that at approximately 8 years of age there is a transition period regarding the spatial skills that are important for mathematics. Taken together, the results support the investigation of spatial training, particularly targeting spatial scaling, as a means of improving both spatial and mathematical thinking.
Detailed analysis of expression judgments in Williams syndrome reveals that successful emotion categorization need not reflect "classic" information processing strategies. These individuals draw upon a distinct set of featural details to identify happy and fearful faces that differ from those used by typically developing comparison groups: children and adults. The diagnostic visual information is also notably less interlinked in Williams syndrome, consistent with reports of diminished processing of configural information during face identity judgments. These results prompt reconsideration of typical models of face expertise by revealing that an age-appropriate profile of expression performance can be achieved via alternative routes.
Background: Previous research suggests that children with cerebral palsy (CP) have impairments in visual-spatial and mathematics abilities, although we know very little about the association between these two domains. Aims: To investigate the extent of visual-spatial and mathematical impairments in children with CP and the associations between these two domains. Method and Procedure: Thirty-two children with predominantly quadriplegic spastic and/or athetoid (dyskinetic) CP (13 years 7 months) and a group of typically developing (TD) children (8 years 6 months) matched by receptive vocabulary were given a battery of visual-spatial and mathematics tasks. Visual-spatial assessments ranged from simple tests of perception to complex reasoning about these stimuli. A standardised test of mathematics ability was administered to both groups. Outcomes and Results: The children with CP had significantly poorer mathematical and visual-spatial abilities than the TD group. For the TD group age was the best predictor of mathematical ability, in the CP group receptive vocabulary and visual perception abilities were the best predictors of mathematical ability. Conclusion and Implications: The CP group had extensive difficulties with visual perception; visual short-term memory; visual reasoning; and mental rotation all of which were associated with their mathematical abilities. These findings have implications for the teaching of visual perception and visual memory skills in young children with CP as these may help the development of mathematical abilities.
While there is evidence of associations between spatial skills and mathematics, relatively few studies explore these associations in children aged 5-10 years. I will present findings from longitudinal and cross-sectional studies to highlight the importance of spatial skills as both longitudinal and concurrent predictors of mathematics. First, secondary data analysis of the Millennium Cohort Study indicates that spatial performance at both 5 and 7 years is a significant predictor of mathematics at age 7 (N = 12099). Second, cross-sectional findings from children aged 5-10 years (N=156), suggest that spatial skills explain 10-12% of the variation in standardised maths performance and approximate number sense, even after accounting for vocabulary skills. That is, spatial scaling was a significant predictor of mathematics for all age groups, while the role of mental rotation and mental folding varied with age. These findings have implications for the design of mathematics interventions customised for specific developmental stages.
Wayfinding is the ability to learn and recall a route through an environment. Theories of wayfinding suggest that for children to learn a route successfully, they must have repeated experience of it, but in this experiment we investigated whether children could learn a route after only a single experience of the route. A total of 80 participants from the United Kingdom in four groups of 20 8-year-olds, 10-year-olds, 12-year-olds, and adults were shown a route through a 12-turn maze in a virtual environment. At each junction, there was a unique object that could be used as a landmark. Participants were "walked" along the route just once (without any verbal prompts) and then were asked to retrace the route from the start without any help. Nearly three quarters of the 12-year-olds, half of the 10-year-olds, and a third of the 8-year-olds retraced the route without any errors the first time they traveled it on their own. This finding suggests that many young children can learn routes, even with as many as 12 turns, very quickly and without the need for repeated experience. The implications for theories of wayfinding that emphasize the need for extensive experience are discussed.
Successfully completing a drawing relies on the ability to accurately impose and manipulate spatial frames of reference for the object that is being drawn and for the drawing space. Typically developing (TD) children use cues such as the page boundary as a frame of reference to guide the orientation of drawn lines. Individuals with Williams syndrome (WS) typically produce incohesive drawings; this is proposed to reflect a local processing bias.Across two studies, we provide the first investigation of the effect of using a frame of reference when drawing simple lines and shapes in WS and TD groups (matched for non-verbal ability).Individuals with WS (N=17 Experiment 1; N=18 Experiment 2) and TD children matched by non-verbal ability drew single lines (Experiment One) and whole shapes (Experiment Two) within a neutral, incongruent or congruent frame. The angular deviation of the drawn line/shape, relative to the model line/shape, was measured.Both groups were sensitive to spatial frames of reference when drawing single lines and whole shapes, imposed by a frame around the drawing space.A local processing bias in WS cannot explain poor drawing performance in WS.
Background: Prior longitudinal and correlational research with adults and adolescents indicates that spatial ability is a predictor of science learning and achievement. However, there is little research to date with primary-school aged children that addresses this relationship. Understanding this association has the potential to inform curriculum design and support the development of early interventions. Aims: This study examined the relationship between primary-school children's spatial skills and their science achievement. Method: Children aged 7-11 years (N = 123) completed a battery of five spatial tasks, based on a model of spatial ability in which skills fall along two dimensions: intrinsic-extrinsic; static-dynamic. Participants also completed a curriculum-based science assessment. Results: Controlling for verbal ability and age, mental folding (intrinsic-dynamic spatial ability), and spatial scaling (extrinsic-static spatial ability) each emerged as unique predictors of overall science scores, with mental folding a stronger predictor than spatial scaling. These spatial skills combined accounted for 8% of the variance in science scores. When considered by scientific discipline, mental folding uniquely predicted both physics and biology scores, and spatial scaling accounted for additional variance in biology and variance in chemistry scores. The children's embedded figures task (intrinsic-static spatial ability) only accounted for variance in chemistry scores. The patterns of association were consistent across the age range. Conclusion: Spatial skills, particularly mental folding, spatial scaling, and disembedding, are predictive of 7- to 11-year-olds' science achievement. These skills make a similar contribution to performance for each age group.
Spatial scaling is the ability to transform distance information between shapes of differing sizes. Research on the developmental trajectories of spatial scaling beyond the pre-school years has been limited by a lack of suitable scaling measures for older children. Here we developed an age-appropriate discrimination scaling task, and demonstrated that children (N = 386) achieve performance gains in spatial scaling skills between 5 and 8-years-of-age, after which no significant improvements were found. Furthermore, the results support the use of relative distance strategies for task completion. These findings contrast to localisation paradigms, where performance reaches a plateau by age 6 and mental transformation strategies are used for scaling. The finding that scaling skills continue to develop until 8 years highlight the potential of scaling interventions in the early primary school years. Such interventions may infer direct benefits on spatial thinking and indirect advantages for science, technology, engineering and maths (STEM) achievement.
D'Souza Dean, Cole Victoria, Farran Emily K., Brown Janice H., Humphreys Kate, Howard John, Rodic Maja, Dekker Tessa M., D'Souza Hana, Karmiloff-Smith Annette (2015) Face processing in Williams syndrome is already atypical in infancy,FRONTIERS IN PSYCHOLOGY 6 (ARTN 7)
FRONTIERS RESEARCH FOUNDATION
Farran Emily K., Bowler Aislinn, Karmiloff-Smith Annette, D?Souza Hana, Mayall Leighanne, Hill Elisabeth L. (2019) Cross-Domain Associations Between Motor Ability, Independent Exploration, and Large-Scale Spatial Navigation; Attention Deficit Hyperactivity Disorder, Williams Syndrome, and Typical Development,Frontiers in Human Neuroscience 13 225
In typical infants, the achievement of independent locomotion has a positive impact on the development of both small-scale and large-scale spatial cognition. Here we investigated whether this association between the motor and spatial domain: (1) persists into childhood and (2) is detrimental to the development of spatial cognition in individuals with motor deficits, namely, individuals with attention deficit hyperactivity disorder (ADHD) and individuals with Williams syndrome (WS). Despite evidence of a co-occurring motor impairment in many individuals with ADHD, little is known about the developmental consequences of this impairment. Individuals with WS demonstrate impaired motor and spatial competence, yet the relationship between these two impairments is unknown. Typically developing (TD) children (N = 71), individuals with ADHD (N = 51), and individuals with WS (N = 20) completed a battery of motor tasks, a measure of independent exploration, and a virtual reality spatial navigation task. Retrospective motor milestone data were collected for the ADHD and WS groups. Results demonstrated a relationship between fine motor ability and spatial navigation in the TD group, which could reflect the developmental impact of the ability to manually manipulate objects, on spatial knowledge. In contrast, no relationships between the motor and spatial domains were observed for the ADHD or WS groups. Indeed, while there was evidence of motor impairment in both groups, only the WS group demonstrated an impairment in large-scale spatial navigation. The motor-spatial relationship in the TD, but not the ADHD and WS groups, suggests that aspects of spatial cognition can develop via a developmental pathway which bypasses input from the motor domain.
Visuospatial difficulties in Williams syndrome (WS) are well documented. Recently, research has shown that spatial difficulties in WS extend to large-scale space, particularly in coding space using an allocentric frame of reference. Typically developing (TD) children and adults predominantly rely on the use of a sequential egocentric strategy to navigate a large-scale route (retracing a sequence of left?right body turns). The aim of this study was to examine whether individuals with WS are able to employ a sequential egocentric strategy to guide learning and the retracing of a route. Forty-eight TD children, aged 5, 7, and 9 years and 18 participants with WS were examined on their ability to learn and retrace routes in two (6-turn) virtual environment mazes (with and without landmarks). The ability to successfully retrace a route following the removal of landmarks (use of sequential egocentric coding) was also examined. Although in line with TD 5-year-olds when learning a route with landmarks, individuals with WS showed significantly greater detriment when these landmarks were removed, relative to all TD groups. Moreover, the WS group made significantly more errors than all TD groups when learning a route that never contained landmarks. On a perceptual view-matching task, results revealed a high level of performance across groups, indicative of an ability to use this visual information to potentially aid navigation. These findings suggest that individuals with WS rely on landmarks to a greater extent than TD children, both for learning a route and for retracing a recently learned route. TD children, but not individuals with WS, were able to fall back on the use of a sequential egocentric strategy to navigate when landmarks were not present. Only TD children therefore coded sequential route information simultaneously with landmark information. The results are discussed in relation to known atypical cortical development and perceptual-matching abilities in WS.
Wayfinding is defined as the ability to learn and remember a route through an environment. Previous researchers have shown that young children have difficulties remembering routes. However, very few researchers have considered how to improve young children's wayfinding abilities. Therefore, we investigated ways to help children increase their wayfinding skills. In two studies, a total of 72 5-year olds were shown a route in a six turn maze in a virtual environment and were then asked to retrace this route by themselves. A unique landmark was positioned at each junction and each junction was made up of two paths: a correct path and an incorrect path. Two different strategies improved route learning performance. In Experiment 1, verbally labeling on-route junction landmarks during the first walk reduced the number of errors and the number of trials to reach a learning criterion when the children retraced the route. In Experiment 2, encouraging children to attend to on-route junction landmarks on the first walk reduced the number of errors when the route was retraced. This was the first study to show that very young children can be taught route learning skills. The implications of our results are discussed.
Young children experience wayfinding difficulties. A better understanding of the development of wayfinding abilities may inform strategies that can be used to improve these skills in children. The ability to learn and remember a route was assessed in 220 6-, 8-, and 10-year old children and adults. Participants were shown a route in a virtual environment, before they were asked to retrace this route until they had achieved two consecutive trials without error. The virtual environment contained (i) no landmarks (ii) landmarks or (iii) landmarks that were verbally labelled. Adults, 10-year-olds and most 8-year-olds learnt the route when landmarks were present, but not all the 6-year-olds were successful. All age groups of children improved when the landmarks were labelled. Children were much poorer when there were no landmarks. This is the first study to distinguish between route learning dependent on landmarks, and route learning without landmarks (i.e. dependent on directions).
Children are widely accepted to process faces differently from adults, with aspects of adult-like processing and neural specialization continuing to develop into early adulthood. Critically, however, little is known about the specific information processing strategies employed as children mature. Here, we investigate the development of face processing strategies in children aged 7-12 years using a reverse correlation approach to determine the visual features driving categorizations of face identity and expression. Specifically, 106 participants (90 children, 16 adults) were trained to identify three unfamiliar faces by name and 200 participants (180 children, 20 adults) were asked to categorize expressions of four basic emotions (fear, sadness, happiness, anger). Across experimental trials we created subsampled versions of these faces by randomly sampling visual information from the images (across different locations and spatial frequency bands) using circularly symmetric apertures ('bubbles'). Participants had to make their categorization decisions based upon only the information directly behind these apertures; the rest was hidden from view. Results revealed that children make less use of the eyes than adults during both tasks. When reading face identity, adults rely on information from the eyes and mouth, particularly in high spatial frequency bands. In contrast, young children make less use of information from the eyes and focus their attention more on the mouth region, with this bias attenuating with age. During expression categorizations we found that relative to adults, children showed a much greater reliance on information from the mouth region when judging fear, sadness and anger, the three emotions that they found most challenging to identify. For happiness, however, which they recognized with near adult-like accuracy, children used information in a more equivalent manner to adults. Across both tasks, these results signal a clear developmental shift in participants' strategic information use when making judgments about key facial characteristics. Meeting abstract presented at VSS 2015.
Courbois Yannick, Mengue-Topio Hursula, Blades Mark, Farran Emily K., Sockeel Pascal (2019) DESCRIPTION OF ROUTES IN PEOPLE WITH INTELLECTUAL DISABILITY,American Journal on Intellectual and Developmental Disabilities 124 (2) pp. 116-130
American Association on Intellectual and Developmental Disabilities (AAIDD)
The ability to describe routes was assessed in participants with intellectual disability (ID) and participants without ID matched on chronological age (CA) or on mental age (MA). In two experiments, participants learned a route through a virtual environment until they reached a learning criterion. Then, they were asked to externalise their spatial knowledge in a verbal description task, a landmark recognition task or a map completion task. Results revealed that participants with ID mainly described the route as a succession of actions (?turn left?) while participants in the CA group prescribed actions referring to a landmark (?turn left at the swing?). Yet, results from the other tasks showed that individuals with ID had good landmark knowledge of the environment.
Individuals with Williams syndrome (WS) produce drawings that are disorganised, likely due to an inability to replicate numerous spatial relations between parts. This study attempted to circumvent these drawing deficits in WS when copying complex combinations of one, two and three shapes. Drawing decisions were reduced by introducing a number of facilitators, for example, by using distinct colours and including facilitatory cues on the response sheet. Overall, facilitation improved drawing in the WS group to a comparable level of accuracy as typically developing participants (matched for non-verbal ability). Drawing accuracy was greatest in both groups when planning demands (e.g. starting location, line lengths and changes in direction) were reduced by use of coloured figures and providing easily distinguished and clearly grouped facilitatory cues to form each shape. This study provides the first encouraging evidence to suggest that drawing of complex shapes in WS can be facilitated; individuals with WS might be receptive to remediation programmes for drawing and handwriting.
Recent findings suggest that difficulties on small-scale visuospatial tasks documented in Williams syndrome (WS) also extend to large-scale space. In particular, individuals with WS often present with difficulties in allocentric spatial coding (encoding relationships between items within an environment or array). This study examined the effect of atypical spatial processing in WS on large-scale navigational strategies, using a novel 3D virtual environment. During navigation of recently-learnt large-scale space, typically developing (TD) children predominantly rely on the use of a sequential egocentric strategy (recalling the sequence of left-right body turns throughout a route), but become more able to use an allocentric strategy between 5-10 years of age. The navigation strategies spontaneously employed by TD children between 5 and 10 years of age and individuals with WS were analysed. The ability to use an allocentric strategy on trials where spatial relational knowledge was required to find the shortest route was also examined. Results showed that, unlike TD children, during spontaneous navigation the WS group did not predominantly employ a sequential egocentric strategy. Instead, individuals with WS followed the path until the correct environmental landmarks were found, suggesting the use of a time-consuming and inefficient view-matching strategy for wayfinding. Individuals with WS also presented with deficits in allocentric spatial coding, demonstrated by difficulties in determining short-cuts when required and difficulties developing a mental representation of the environment layout. This was found even following extensive experience in an environment, suggesting that ? unlike in typical development ? experience cannot contribute to the development of spatial relational processing in WS. This atypical presentation of both egocentric and allocentric spatial encoding is discussed in relation to specific difficulties on small-scale spatial tasks and known atypical cortical development in WS.
Drawings by individuals with Williams syndrome (WS) typically lack cohesion. The popular hypothesis is that this is a result of excessive focus on local-level detail at the expense of global configuration. In this study, we explored a novel hypothesis that inadequate attention might underpin drawing in WS. WS and typically developing (TD) non-verbal ability matched groups copied and traced a house figure comprised of geometric shapes. The house was presented on a computer screen for 5-s periods and participants pressed a key to re-view the model. Frequency of key-presses indexed the looks to the model. The order that elements were replicated was recorded to assess hierarchisation of elements. If a lack of attention to the model explained poor drawing performance, we expected participants with WS to look less frequently to the model than TD children when copying. If a local-processing preference underpins drawing in WS, more local than global elements would be produced. Results supported the first, but not second hypothesis. The WS group looked to the model infrequently, but global, not local, parts were drawn first, scaffolding local-level details. Both groups adopted a similar order of drawing and tracing of parts, suggesting typical, although delayed strategy-use in the WS group. Additionally both groups drew larger elements of the model before smaller elements, suggested a size-bias when drawing.
Individuals with the neurodevelopmental disorder Williams syndrome (WS) often report difficulty processing and acting in depth, such as crossing roads or reaching for objects; however little research attention has been directed at understanding depth perception and action in depth in WS and whether deficits in depth perception have an ocular or perceptual root in this group. This study assessed the extent and relationship of deficits in stereopsis (binocular, three dimensional vision) and actions performed in depth in WS, as well as in typically developing participants (TD) matched for non-verbal ability. Stereoacuity was age-appropriate in the TD group but at the level of a TD three year old in WS; one third of the WS group did not show evidence of stereopsis. When monocularly acting in depth there was no difference between the WS and TD groups. When binocularly acting in depth the WS group that did not exhibit stereopsis were significantly poorer than the TD group and the WS group that exhibited stereopsis. When assessing the relationship between stereoacuity and action in depth, stereoacuity negatively correlated with binocular action in depth for the WS group with stereopsis, but not the TD group. Therefore, no deficits in monocular depth perception in WS were evidenced, yet significant deficits are exhibited in binocular depth perception and action. Importantly action in depth under binocular viewing may be a useful gross screening measure for stereodeficits in WS. Remediation of depth perception deficits in WS could train further understanding of monocular cues to compensate for poor stereopsis.
Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive.
We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted.
Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB?s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion.
Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed.
The aim of this study was to investigate route-learning ability in 67 children aged 5 to 11 years and to relate route-learning performance to the components of Baddeley?s model of working memory. Children carried out tasks that included measures of verbal and visuospatial short-term memory and executive control and also measures of verbal and visuospatial long-term memory; the route-learning task was conducted using a maze in a virtual environment. In contrast to previous research, correlations were found between both visuospatial and verbal memory tasks?the Corsi task, short-term pattern span, digit span, and visuospatial long-term memory?and route-learning performance. However, further analyses indicated that these relationships were mediated by executive control demands that were common to the tasks, with long-term memory explaining additional unique variance in route learning.
The aim of this study was to assess wayfinding abilities in individuals with Down syndrome (DS). The ability to learn routes though a virtual environment (VE) and to make a novel shortcut between two locations was assessed in individuals with DS (N = 10) and control participants individually matched on mental age (MA) or chronological age (CA). The results showed that most of the participants with DS were able to learn routes through the VE, even though they needed more trials than the CA controls to reach the learning criterion. However, they did not show flexible wayfinding behaviour because they were unable to find a shortcut between two known locations (unlike the CA controls). The results suggest that most individuals with DS can acquire knowledge about specific routes, but are unable to integrate that knowledge into a configurational understanding of the environment.
The type of information used to process spatial layouts was assessed by observing the effect of spatial category salience and perceptual grouping (a non-spatial category), on a location memory task. Participants (N = 64) learnt the pairings between twenty objects and twenty marked locations within a ?house?. They then placed the objects in the remembered locations, without the aid of location markers. Spatial category salience was manipulated by presenting the house as an open space (no boundary condition) or by dividing the space into quadrants (boundary condition). Perceptual grouping was manipulated by using identical shapes (control condition) or sets of shapes which identified triads of objects (perceptual grouping condition). Both non-spatial and spatial categories improved location memory accuracy. The non- spatial category produced a prototype effect and the spatial category produced a subdivision effect. Different patterns of category dominance (spatial vs. non-spatial) were observed for level of accuracy compared to distortion effects.
Farran Emily K., Formby Susan C. (2012) Visual perception and visuospatial cognition,In: Farran Emily K., Karmiloff-Smith Annette (eds.), Neurodevelopmental Disorders Across the Lifespan: A neuroconstructivist approach
Oxford University Press
One of the core cognitive characteristics of Williams syndrome (WS) is the marked contrast between poor levels of visuospatial ability relative to stronger verbal abilities. Visuospatial cognition enables us to perceive and interact with our visual world. It includes everyday skills such as the ability to reach for and grasp our knife and fork and to recognise the food on the plate; the visual search skills required to locate our favourite cereal on a supermarket shelf or our coat on a coat rack; the processes that enable us to individuate objects in order to count them, to draw pictures, to write and recognise words, and to complete puzzles; and even the ability to know which bus stop to get off at when travelling. In WS, many of these visuospatial skills do not develop beyond the level of a typically developing six-year-old. However, there is considerable variation across levels of ability within this domain. This chapter outlines the characteristic profile of visuospatial abilities in WS within the context of developmental interactions between genes, brain, the environment, and behaviour.
This study examined Object-based (OB) rotation and Visual Perspective-Taking (VPT) abilities in Williams Syndrome (WS) compared to typically-developing (TD) 5-10 year-olds. Extensive difficulties with both types of imagined rotation were observed in WS; WS performance was in line with the level of ability observed in TD 5 year-olds. However, an atypical pattern of errors on OB and VPT tasks was observed in WS compared to TD groups. Deficits in imagined rotations are consistent with known atypical cortical development in WS. Such difficulties in updating the position of the self following movement in WS may have implications for large-scale spatial navigation.
Background The present study was aimed at investigating the selection of landmarks by individuals with intellectual disability (ID). The hypothesis was that they would be less efficient than individuals without IDs in the selection of landmarks when learning a new route.
Methods The experiment took place in a natural setting with a group of participants with ID and a group of control participants matched by chronological age. The participants were first guided along a route situated in an unfamiliar district. Then, they had to guide the experimenter along the route while pointing to all the objects and features they found useful for wayfinding.
Results The designated objects were categorised as a function of their landmarks properties. There were significant differences between the two groups for non?permanent landmarks, distant landmarks and non?unique landmarks. The two groups selected landmarks near intersections in the same proportions. However, the individuals with ID selected more non?unique landmarks and less textual signage than the control group at these decision points.
Conclusion Individuals with ID seem to be less efficient than individuals without disability in landmark selection. This may limit their wayfinding abilities in their day?to?day travelling. This may also account for their difficulties in obtaining the kind of spatial knowledge which relates to the configural structure of their environment.
This introductory chapter first sets out the purpose of the book, which is to serve as a paradigm for multidisciplinary, neuroconstructivist approaches to a wide range of other syndromes, taking the neurodevelopmental disorder Williams syndrome (WS) as a model syndrome. It then discusses the neuroconstructivist approach to neurodevelopmental disorders. An overview of the subsequent chapters is also presented.
Individuals with Williams syndrome (WS) present with impaired functioning of the dorsal visual stream relative to the ventral visual stream. As such, little attention has been given to ventral stream functions in WS. We investigated colour processing, a predominantly ventral stream function, for the first time in nineteen individuals with Williams syndrome. Colour discrimination was assessed using the Farnsworth-Munsell 100 hue test. Colour categorisation was assessed using a match-to-sample test and a colour naming task. A visual search task was also included as a measure of sensitivity to the size of perceptual colour difference. Results showed that individuals with WS have reduced colour discrimination relative to typically developing participants matched for chronological age; performance was commensurate with a typically developing group matched for non-verbal ability. In contrast, categorisation was typical in WS, although there was some evidence that sensitivity to the size of perceptual colour differences was reduced in this group.
The ability to learn a route through a virtual environment was assessed in 19 older children and adults with Williams syndrome (WS) and 40 typically developing (TD) children aged 6?9 years. In addition to comparing route-learning ability across groups, we were interested in whether participants show an adult-like differentiation between ?useful? and ?less useful? landmarks when learning a route and the relative salience of landmark position versus landmark identity. Each virtual environment consisted of a brick wall maze with six junctions. There were 16 landmarks in the maze, half of which were on the correct path and half on incorrect paths. Results showed that both groups could learn each route to criterion (two successful completions of a route without error). During the learning phase, the WS group produced more errors than the TD group and took longer to reach criterion. This was predominantly due to the large number of perseverative errors (i.e., errors that were made at the same choice point on consecutive learning trials) made by the WS group relative to the TD children. We suggest that this reflects a difficulty in inhibiting erroneous responses in WS. During the test phase, the TD group showed stronger recall of landmarks adjacent to junctions (more useful landmarks) than of landmarks along path sections (less useful landmarks) independent of each individual?s level of nonverbal ability. This pattern was also evident in the WS group but was related to level of nonverbal maturation; the differentiation between recall of junction and path landmarks increased as nonverbal ability increased across WS participants. Overall, the results demonstrate that individuals with WS can learn a route but that the development of this ability is atypical.
Raven?s Coloured Progressive Matrices (RCPM) is a standardised test that is commonly used to obtain a non-verbal reasoning score for children. As the RCPM involves the matching of a target to a pattern it is also considered to be a visuo-spatial perception task.RCPM is therefore frequently used in studies in Williams Syndrome (WS), in order tomatch WS participants to a control group or as a single measure to predict performance on a test-condition in developmental trajectory analyses. However, little is known about the performance of participants with WS on the RCPM. The current study compared the type of errors and the difficulty of each item for 53 participants with WS to 53 typically developing children who were individually matched on the total raw score for RCPM. Results showed that the participants with WS made the same proportion of error types and that the proportion of error types changed similarly to those of typically developing controls over development. Furthermore, the differential item difficulty between the two groups was highly similar. It is therefore argued that, although participants with WS are delayed on RCPM, their performance is not atypical which suggests that RCPM performance is supported by typical mechanisms. The RCPM is therefore a useful tool to match WS to control groups or to construct developmental trajectories.
Perceptual grouping is a pre-attentive process which serves to group local elements into global wholes, based on shared properties. One effect of perceptual grouping is to distort the ability to estimate the distance between two elements. In this study, biases in distance estimates, caused by four types of perceptual grouping, were measured across three tasks, a perception, a drawing and a construction task in both typical development (TD: Experiment 1) and in individuals with Williams syndrome (WS: Experiment 2). In Experiment 1, perceptual grouping distorted distance estimates across all three tasks. Interestingly, the effect of grouping by luminance was in the opposite direction to the effects of the remaining grouping types. We relate this to differences in the ability to inhibit perceptual grouping effects on distance estimates. Additive distorting influences were also observed in the drawing and the construction task, which are explained in terms of the points of reference employed in each task. Experiment 2 demonstrated that the above distortion effects are also observed in WS. Given the known deficit in the ability to use perceptual grouping in WS, this suggests a dissociation between the pre-attentive influence of and the attentive deployment of perceptual grouping in WS. The typical distortion in relation to drawing and construction points towards the presence of some typical location coding strategies in WS. The performance of the WS group differed from the TD participants on two counts. First, the pattern of overall distance estimates (averaged across interior and exterior distances) across the four perceptual grouping types, differed between groups. Second, the distorting influence of perceptual grouping was strongest for grouping by shape similarity in WS, which contrasts to a strength in grouping by proximity observed in the TD participants.
Perceptual grouping by luminance similarity and by proximity was investigated in infants with Williams syndrome (WS) aged between 6 and 36 months (visit 1, N=29). WS infants who were still under 36 months old, 8 months later, repeated the testing procedure (visit 2, N=15). Performance was compared to typically developing (TD) infants aged from 2 to 20 months (N=63). Consistent with the literature, TD participants showed grouping by luminance at the youngest testing age, 2 months. Grouping by proximity had not previous been charted in typical development: this study showed grouping by proximity at 8 months. Infants with WS could group by luminance. Developmental progression of the WS group showed some similarities to typical development, although further investigation is required to further address this in more depth. In contrast, infants with WS were not able to group by proximity. This pattern of emergence and development of grouping abilities is considered in relation to the pattern of grouping abilities observed in adults with WS.
Karmiloff-Smith Annette, Broadbent Hannah, Farran Emily K, Longhi Elena, D'Souza Dean, Metcalfe Kay, Tassabehji May, Wu Racehl, Senju Atsushi, Happe Francesca, Turnpenny Peter, Sansbury Francis (2012) Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients,FRONTIERS IN PSYCHOLOGY 3 169
FRONTIERS RESEARCH FOUNDATION
Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in the WS critical region (WSCR) of chromosome 7q11.23 to this unusual social profile. In this paper, we provide details of two case studies of children with partial genetic deletions in the WSCR: an 11-year-old female with a deletion of 24 of the 28 WS genes, and a 14-year-old male who presents with the opposite profile, i.e., the deletion of only four genes at the telomeric end of the WSCR. We tested these two children on a large battery of standardized and experimental social perception and social cognition tasks ? both implicit and explicit ? as well as standardized social questionnaires and general psychometric measures. Our findings reveal a partial WS socio-cognitive profile in the female, contrasted with a more autistic-like profile in the male. We discuss the implications of these findings for genotype/phenotype relations, as well as the advantages and limitations of animal models and of case study approaches.
Typically developing (TD) 6-year-olds and 9-year-olds, and older children and adults with Williams syndrome (WS) navigated through brick-wall mazes in a virtual environment. Participants were shown a route through three mazes, each with 6 turns. In each maze the floor of each path section was a different colour such that colour acted as an environmental cue. The colours employed were either easy to verbalise (focal colours) or difficult to verbalise (non-focal colours). We investigated whether participants would verbally code the colour information in the focal colour condition only, and whether this facilitated route-learning. All groups could learn the routes; the WS group required more learning trials to learn the route and achieved lower memory scores than both of the TD groups. Despite this, all groups showed the same pattern of results. There was no effect of condition on the ability to learn the maze. However, when asked which colours featured in each route, higher memory scores were achieved for the focal colour (verbalisable) than the non-focal colour (non-verbalisable) condition. This suggests that, in both young children and individuals with WS, once a route has been learnt, the nature of the environmental cues within it can impact an individual's representation of that route.
Typically developing young children and individuals with intellectual disabilities often perform poorly on mental rotation tasks when the stimulus they are rotating lacks a salient component. However, performance can be improved when salience is increased. The present study investigated the effect of salience on mental rotation performance by individuals with Williams syndrome. Individuals with Williams syndrome and matched controls were presented with two versions of a mental rotation task: a no salient component condition and a salient component condition. The results showed that component salience did not benefit individuals with Williams syndrome in the same manner as it did controls.
The ability to learn routes though a virtual environment (VE) and to make a novel shortcutbetween two locations was assessed in 18 adults with intellectual disability and 18 adults without intellectual disability matched on chronological age. Participants explored two routes (A,B and A,C) until they reached a learning criterion. Then, they were placed at B and were asked to find the shortest way to C (B, C, five trials). Participants in both groups could learn the routes, but most of the participants with intellectual disability could not find the shortest route between B and C. However, the results also revealed important individual differences within the intellectual disability group, with some participants exhibiting more efficient wayfinding behaviour than others. Individuals with intellectual disability may differ in the kind of spatial knowledge they extract from the environment and/or in the strategy they use to learn routes.
Individuals with Williams syndrome (WS) show a specific deficit in visuo?spatial abilities. This finding, however, derives mainly from performance on small?scale laboratory?based tasks. This study investigated large?scale route learning in individuals with WS and two matched control groups (moderate learning difficulty group [MLD], typically developing group [TD]). In a non?labelling and a labelling (verbal information provided along the route) condition, participants were guided along one of two unfamiliar 1?km routes with 20 junctions, and then retraced the route themselves (two trials). The WS participants performed less well than the other groups, but given verbal information and repeated experience they learnt nearly all of the turns along the route. The extent of improvement in route knowledge (correct turns) in WS was comparable to that of the control groups. Relational knowledge (correctly identifying spatial relationships between landmarks), compared with the TD group, remained poor for both the WS and the MLD group. Assessment of the relationship between performance on the large?scale route?learning task and that on three small?scale tasks (maze learning, perspective taking, map use) showed no relationship for the TD controls, and only a few non?specific associations in the MLD and WS groups.
Individuals with Williams syndrome (WS) demonstrate impaired visuo-spatial abilities in comparison to their level of verbal ability. In particular, visuo-spatial construction is an area of relative weakness. It has been hypothesised that poor or atypical location coding abilities contribute strongly to the impaired abilities observed on construction and drawing tasks [Farran, E. K., & Jarrold, C. (2005). Evidence for unusual spatial location coding in Williams syndrome: An explanation for the local bias in visuo-spatial construction tasks? Brain and Cognition, 59, 159?172; Hoffman, J. E., Landau, B., & Pagani, B. (2003). Spatial breakdown in spatial construction: Evidence from eye fixations in children with Williams syndrome. Cognitive Psychology, 46, 260?301]. The current experiment investigated location memory in WS. Specifically, the precision of remembered locations was measured as well as the biases and strategies that were involved in remembering those locations. A developmental trajectory approach was employed; WS performance was assessed relative to the performance of typically developing (TD) children ranging from 4- to 8-year-old. Results showed differential strategy use in the WS and TD groups. WS performance was most similar to the level of a TD 4-year-old and was additionally impaired by the addition of physical category boundaries. Despite their low level of ability, the WS group produced a pattern of biases in performance which pointed towards evidence of a subdivision effect, as observed in TD older children and adults. In contrast, the TD children showed a different pattern of biases, which appears to be explained by a normalisation strategy. In summary, individuals with WS do not process locations in a typical manner. This may have a negative impact on their visuo-spatial construction and drawing abilities.
n the typical population, a series of drawing strategies have been outlined, which progressively emerge during childhood. Individuals with Williams syndrome (WS), a rare genetic disorder, produce drawings that lack cohesion, yet drawing strategies in this group have hitherto not been investigated. In this study, WS and typically developing (TD) groups drew and constructed (from pre-drawn lines and shapes) a series of intersecting and embedded figures. Participants with WS made use of the same strategies as the TD group for simple intersecting figures, though were less likely to use a typical strategy for more complex figures that contained many spatial relations. When replicating embedded
shapes, the WS group used typical drawing strategies less frequently than the TD group, despite attempting to initiate a strategy that is observed in TD children. Results suggested that individuals with WS show a particular difficulty with replicating figures that include multiple spatial relations. The impact of figure complexity and task demands on performance are discussed.
This study further investigates findings of impairment in Gestalt, but not global processing in Autism Spectrum Disorder (ASD) [Brosnan, Scott, Fox, & Pye, 2004]. Nineteen males with ASD and nineteen typically developing (TD) males matched by nonverbal ability, took part in five Gestalt perceptual grouping tasks. Results showed that performance differed according to grouping type. The ASD group showed typical performance for grouping by proximity and by alignment, impairment on low difficulty trials for orientation and luminance similarity, and general impairment for grouping by shape similarity. Group differences were also observed developmentally; for the ASD group, with the
exception of grouping by shape similarity, perceptual grouping performance was poorer at lower than higher levels of nonverbal ability. In contrast, no developmental progression was observed in the TD controls.
Facial expression recognition was investigated in 20 males with high functioning autism(HFA) or Asperger syndrome (AS), compared to typically developing individuals matched for chronological age (TD CA group) and verbal and non-verbal ability (TD V/NV group).This was the first study to employ a visual search, ??face in the crowd?? paradigm with aHFA/AS group, which explored responses to numerous facial expressions using real-face stimuli. Results showed slower response times for processing fear, anger and sad expressions in the HFA/AS group, relative to the TD CA group, but not the TD V/NV group. Reponses to happy, disgust and surprise expressions showed no group differences. Results are discussed with reference to the amygdala theory of autism.
Grouping by luminance and shape similarity has previously been demonstrated in neonates and at 4 months, respectively. By contrast, grouping by proximity has hitherto not been investigated in infancy. This is also the first study to chart the developmental emergence of perceptual grouping longitudinally. Sixty-one infants were presented with a matrix of local stimuli grouped horizontally or vertically by luminance, shape or proximity at 2, 4, and 6 months. Infants were exposed to each set of stimuli for three presentation durations. Grouping was demonstrated for luminance similarity at the earliest testing age, 2 months, by shape similarity at 4 months, but was not observed for grouping by proximity. Grouping by shape similarity showed a distinctive pattern of grouping ability across exposure durations, which reflected familiarity preferences followed by novelty preferences. This remained stable across age. No link was found between the emergence of perceptual grouping ability and the exposure duration required to elicit grouping. We conclude by stressing the importance of longitudinal studies of infant development in furthering our understanding of human cognition, rather than relying on assumptions from the adult endstate.
The comparison of cognitive and linguistic skills in individuals with developmental disorders is fraught with methodological and psychometric difficulties. In this paper, we illustrate some of these issues by comparing the receptive vocabulary knowledge and non?verbal reasoning abilities of 41 children with Williams syndrome, a genetic disorder in which language abilities are often claimed to be relatively strong. Data from this group were compared with data from typically developing children, children with Down syndrome, and children with non?specific learning difficulties using a number of approaches including comparison of age?equivalent scores, matching, analysis of covariance, and regression?based standardization. Across these analyses children with Williams syndrome consistently demonstrated relatively good receptive vocabulary knowledge, although this effect appeared strongest in the oldest children.
The visuospatial perceptual abilities of individuals with Williams syndrome (WS) were investigated in two experiments. Experiment 1 measured the ability of participants to discriminate between oblique and between nonoblique orientations. Individuals with WS showed a smaller effect of obliqueness in response time, when compared to controls matched for nonverbal mental age. Experiment 2 investigated the possibility that this deviant pattern of orientation discrimination accounts for the poor ability to perform mental rotation in WS (Farran, Jarrold, & Gathercole, 2001). A size transformation task was employed, which shares the image transformation requirements of mental rotation, but not the orientation discrimination demands. Individuals with WS performed at the same level as controls. The results suggest a deviance at the perceptual level in WS, in processing orientation, which fractionates from the ability to mentally transform images.
Hudson Kerry D., Farran Emily K. (2012) Executive function and motor planning,In: Karmiloff-Smith Annette, Farran Emily K. (eds.), Neurodevelopmental Disorders Across the Lifespan: A neuroconstructivist approach
Oxford University Press
This chapter shows that executive functions and motor planning are impaired in Williams syndrome (WS). It assesses inhibition (such as inhibition of a prepotent response) and its influence on social functioning, and evaluates how the cascading developmental effects of poor planning ability impact on the wider functioning of other aspects of cognition such as performance on visuospatial tasks. It considers studies that have investigated the interplay between multiple executive functions to resolve the mixed evidence relating to executive dysfunction in WS. Motoric planning is discussed in terms of walking, stairdescent, and reaching studies that reveal evidence for poor motor planning in WS. The chapter highlights how the use of neuroimaging techniques and analysis of movement in real-world situations has advanced the understanding of executive function and motor planning in typical development as well as in groups with neurodevelopmental disorders including WS.
The visuo-spatial abilities of individuals with Williams syndrome (WS) have consistently been shown to be generally weak. These poor visuo-spatial abilities have been ascribed to a local processing bias by some [R. Rossen, E.S. Klima, U. Bellugi, A. Bihrle, W. Jones, Interaction between language and cognition: evidence from Williams syndrome, in: J. Beitchman, N. Cohen, M. Konstantareas, R. Tannock (Eds.), Language, Learning and Behaviour disorders: Developmental, Behavioural and Clinical Perspectives, Cambridge University Press, New York, 1996, pp. 367?392] and conversely, to a global processing bias by others [Psychol. Sci. 10 (1999) 453]. In this study, two identification versions and one drawing version of the Navon hierarchical processing task, a non-verbal task, were employed to investigate this apparent contradiction. The two identification tasks were administered to 21 individuals with WS, 21 typically developing individuals, matched by non-verbal ability, and 21 adult participants matched to the WS group by mean chronological age (CA). The third, drawing task was administered to the WS group and the typically developing (TD) controls only. It was hypothesised that the WS group would show differential processing biases depending on the type of processing the task was measuring. Results from two identification versions of the Navon task measuring divided and selective attention showed that the WS group experienced equal interference from global to local as from local to global levels, and did not show an advantage of one level over another. This pattern of performance was broadly comparable to that of the control groups. The third task, a drawing version of the Navon task, revealed that individuals with WS were significantly better at drawing the local form in comparison to the global figure, whereas the typically developing control group did not show a bias towards either level. In summary, this study demonstrates that individuals with WS do not have a local or a global processing bias when asked to identify stimuli, but do show a local bias in their drawing abilities. This contrast may explain the apparently contrasting findings from previous studies.
Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of interactions between gene expression, cortical and subcortical brain networks, and environmental influences. In recent years, our study of neurodevelopmental disorders has provided much valuable information on how genes, brain development, behaviour, and environment interact to influence development from infancy to adulthood. This book presents evidence on development across the lifespan across these multiple levels of description (genetic, brain, cognitive, environmental). It chooses a well-defined disorder, Williams syndrome (WS), to explore the impact of genes, brain development, behaviour, as well as the individual's environment on development. WS is used as a model disorder to demonstrate the book's approach to understanding development, whilst being presented in comparison to other neurodevelopmental disorders - autism, developmental dyscalculia, Down syndrome, dyslexia, fragile X syndrome, Prader-Willi syndrome, Specific Language Impairment, Turner syndrome - to illustrate differences in development across neurodevelopmental disorders. WS is particularly informative for exploring development. Firstly, it has been extensively researched at multiple levels: genes, brain, cognition, and behaviour as well as in terms of the difficulties of daily living and social interaction. Secondly, it has been studied across the lifespan, with many studies on infants and toddlers with WS as well as a large number on children, adolescents, and adults. The book also explores a number of domain-general and domain-specific processes in the verbal, non-verbal, and social domains, across numerous neurodevelopmental disorders. This illustrates, among other factors, the importance of developmental timing, i.e., that the development of a cognitive skill at a specific timepoint can impact on subsequent development within that domain, but also across domains. In addition, the chapters discuss the value of investigating basic-level abilities from as close to the infant start-state as possible, presenting evidence of where cross-syndrome comparisons have shed light on the cascading impacts of subtle similarities and discrepancies in early delay or deviance, on subsequent development.
Williams syndrome (WS) is a developmental disorder in which visuo-spatial cognition is poor relative to verbal ability. At the level of visuo-spatial perception, individuals with WS can perceive both the local and global aspects of an image. However, the manner in which local elements are integrated into a global whole is atypical, with relative strengths in integration by luminance, closure, and alignment compared to shape, orientation and proximity. The present study investigated the manner in which global images are segmented into local parts. Segmentation by seven gestalt principles was investigated: proximity, shape, luminance, orientation, closure, size (and alignment: Experiment 1 only). Participants were presented with uniform texture squares and asked to detect the presence of a discrepant patch (Experiment 1) or to identify the form of a discrepant patch as a capital E or H (Experiment 2). In Experiment 1, the pattern and level of performance of the WS group did not differ from that of typically developing controls, and was commensurate with the general level of non-verbal ability observed in WS. These results were replicated in Experiment 2, with the exception of segmentation by proximity, where individuals with WS demonstrated superior performance relative to the remaining segmentation types. Overall, the results suggest that, despite some atypical aspects of visuo-spatial perception in WS, the ability to segment a global form into parts is broadly typical in this population. In turn, this informs predictions of brain function in WS, particularly areas V1 and V4.
Background and Objectives: People with Williams syndrome (WS) have been reported by their carers to have problems with attention, anxiety and social relationships. People with WS have been shown to report their anxieties. This study extends our knowledge of how people with WS see themselves in terms of behaviour and social relationships.
Methods: A survey using self and parent report forms of the Strengths and Difficulties Questionnaire.
Results: Both parents and individuals with WS (N = 31) reported difficulties in emotional disorder and hyperactivity symptoms and strengths in prosocial behaviours such as altruism and empathy. They disagreed about peer problems.
Conclusions: People with WS understand some but not all of their difficulties. In particular they fail to recognize their social difficulties which may lead them to be vulnerable to exploitation.
Williams syndrome (WS) is a rare genetic disorder with a unique cognitive profile in which verbal abilities are markedly stronger than visuospatial abilities. This study investigated the claim that orientation coding is a specific deficit within the visuospatial domain in WS. Experiment 1 employed a simplified version of the Benton Judgement of Line Orientation task and a control, length-matching task. Results demonstrated comparable levels of orientation matching performance in the group with WS and a group of typically developing (TD) controls matched by nonverbal ability, although it is possible that floor effects masked group differences. A group difference was observed in the length-matching task due to stronger performance from the control group. Experiment 2 employed an orientation-discrimination task and a length-discrimination task. Contrary to previous reports, the results showed that individuals with WS were able to code by orientation to a comparable level as that of their matched controls. This demonstrates that, although some impairment is apparent, orientation coding does not represent a specific deficit in WS. Comparison between Experiments 1 and 2 suggests that orientation coding is vulnerable to task complexity. However, once again, this vulnerability does not appear to be specific to the population with WS, as it was also apparent in the TD controls.
Atkinson Jannette, Braddick Oliver (2012) Spatial cognition, visuomotor action and attention,In: Farran Emily K., Karmiloff-Smith Annette (eds.), Neurodevelopmental Disorders Across the Lifespan A Neuroconstructivist Approach pp. 249-262
Oxford University Press
The first part of this chapter outlines a neurobiological model of visual mechanisms (and their development) that provides the neural underpinnings of the infant and young child's visual, attentional, and spatial abilities. It discusses the links between attention and the child's other cognitive abilities, including planning and executing actions, and how these dynamic developmental interactions between different neural systems may be altered in atypical development from birth through early childhood. A key concept is the broad division of the visual brain into ?ventral? and ?dorsal? cortical streams. Dorsal-stream deficits are consistent with the characteristic visuocognitive profile found in Williams syndrome (WS). The second part of the chapter presents some evidence on the form these problems take in the visuospatial and visuomotor abilities in children with WS. Lastly, the chapter discusses the overlap between the brain networks controlling action systems and those involved in attention. This means that when visuospatial deficits are considered, these may be associated with deficits of attention.
Williams syndrome (WS) is a rare genetic disorder. At a cognitive level, this population display poor visuo-spatial cognition when compared to verbal ability. Within the visuo-spatial domain, it is now accepted that individuals with WS are able to perceive both local and global aspects of an image, albeit at a low level. The present study examines the manner in which local elements are grouped into a global whole in WS. Fifteen individuals with WS and 15 typically developing controls, matched for non-verbal ability, were presented with a matrix of local elements and asked whether these elements were perceptually grouped horizontally or vertically. The WS group was at the same level as the control group when grouping by luminance, closure, and alignment. However, their ability to group by shape, orientation and proximity was significantly poorer than controls. This unusual profile of grouping abilities in WS suggests that these individuals do not form a global percept in a typical manner.
When full depth cues are available, size judgments are dominated by physical size. However, with reduced depth cues, size judgments are influenced less by physical size and more by projected size. By manipulating monocularly presented pictorial depth cues only, in this study we reduced depth cues further than had previous size judgment studies. Participants were presented monocularly with two shapes against a background of zero (control), one, two, or three pictorial depth cues. Each cue was added progressively in the following order: height in the visual field, linear perspective, and texture gradient. Participants made a same/different judgment regarding the projected size of the two shapes (i.e., ignoring any depth cues). As was expected, accuracy increased and response times decreased as the ratio between the projected size of the two shapes increased (range of projected size ratios, 1:1-1:5). In addition, with the exception of the larger size ratios (1:4 and 1:5), detection of projected size difference grew poorer as depth cues were added. One- and two-cue conditions had the most weighting in this performance decrement, with little weighting from the three-cue condition. We conclude that even minimal depth information is difficult to inhibit, which indicates that depth perception requires little focused attention.
Individuals with Williams syndrome (WS) display poor visuo-spatial cognition relative to verbal abilities. Furthermore, whilst perceptual abilities are delayed, visuo-spatial construction abilities are comparatively even weaker, and are characterised by a local bias. We investigated whether this differentiation in visuo-spatial abilities can be explained by a deficit in coding spatial location in WS. This can be measured by assessing participants? understanding of the spatial relations between objects within a visual scene. Coordinate and categorical spatial relations were investigated independently in four participant groups: 21 individuals with WS; 21 typically developing (TD) children matched for non-verbal ability; 20 typically developing controls of a lower non-verbal ability; and 21 adults. A third task measured understanding of visual colour relations. Results indicated first, that the comprehension of categorical and coordinate spatial relations is equally poor in WS. Second, that the comprehension of visual relations is also at an equivalent level to spatial relational understanding in this population. These results can explain the difference in performance on visuo-spatial perception and construction tasks in WS. In addition, both the WS and control groups displayed response biases in the spatial tasks. However, the direction of bias differed across the groups. This finding is explored in relation to current theories of spatial location coding.
Williams syndrome (WS) is a rare genetic disorder which, among other characteristics, has a distinctive cognitive profile. Nonverbal abilities are generally poor in relation to verbal abilities, but also show varying levels of ability in relation to each other. Performance on block construction tasks represents arguably the weakest nonverbal ability in WS. In this study we examined two requirements of block construction tasks in 21 individuals with WS and 21 typically developing (TD) control individuals. The Squares tasks, a novel twodimensional block construction task, manipulated patterns by segmentation and perceptual cohesiveness to investigate the first factor, processing preference (local or global), and by obliqueness to examine the second factor, the ability to use mental imagery. These two factors were investigated directly by the Children's Embeded Figures Test (CEFT; Witkin, Oltman, Raskin, & Karp, 1971) and a mental rotation task respectively. Results showed that individuals with WS did not differ from the TD group in their processing style. However, the ability to use mental imagery was significantly poorer in the WS group than the TD group. This suggests that weak performance on the block construction tasks in WS may relate to an inability to use mental imagery.
This chapter discusses how a neuroconstructivist, multidisciplinary approach enriches our understanding of neurodevelopmental disorders. The neuroconstructivist approach raises cross-syndrome questions at multiple levels of analysis, such as: is this brain/cognitive/behavioural deficit syndrome-specific or is it syndrome-general, that is, is it characteristic of all atypical development where learning difficulties obtain or unique to a particular syndrome? It differentiates domain-relevant mechanisms from domain-specific or domain-general ones. It also searches for very low-level impairments in the neonate profile - at the levels of brain, cognition, and behaviour - that might affect gene expression and have cascading effects on developmental outcomes.
Camp Joanne S., Farran Emily K., Karmiloff-Smith Annette (2011) Numeracy,In: Farran Emily K., Karmiloff-Smith Annette (eds.), Neurodevelopmental Disorders across the Lifespan
Oxford University Press
Number-relevant information bombards our everyday lives. It is necessary for telling the time, for dealing with money, for changing TV channels, for shopping, for taking local transport, and so forth. Human children show sensitivity to numerically relevant displays very early in infancy and continue to develop number processing skills and knowledge about number facts throughout childhood. Yet, despite dyscalculia being more prevalent than dyslexia, particularly in children with neurodevelopmental disorders, studies of atypical number development are far less plentiful than those of atypical reading. This chapter examines the neural and cognitive underpinnings of typical and atypical numeracy, in particular numerical cognition in infants, children, and adults with Williams syndrome (WS), but also referring to other neurodevelopmental disorders, with particular emphasis on the distinction between numerical sensitivities vis-é-vis small numbers and approximate magnitude computations with large numbers.
Field independence describes the extent to which individuals are influenced by context when trying to identify embedded targets. It associates with cognitive functioning and is a predictor of academic achievement. However, little is known about the neural and cognitive underpinnings of field independence which lead to these associations. Here we investigated behavioural associations between two measures of field independence (Children?s Embedded Figures Test (CEFT) and Design Organisation Test (DOT)) and performance on mathematics (reasoning and written arithmetic) and science tests (reasoning and scientific inquiry) in 135 children aged 5-10 years. There were strong associations between field independence and mathematics and science, which were largely explained by individual differences in age, IQ, and verbal working memory. However, regression analyses indicated that after controlling for these variables, the CEFT explained additional variance on the mathematical reasoning and science tests, whereas the DOT predicted unique variance on the written arithmetic test.
La déficience intellectuelle se caractérise par des profils cognitifs hétérogènes dans lesquels certains secteurs constituent des forces alors que d?autres sont marqués par d?importantes limitations. Une telle hétérogénéité résulte de vitesses de développement différentes dans les domaines relevant du développement cognitif, émotionnel ou social. Appelé « hétérochronie » par René Zazzo (1960), ce phénomène varie en fonction de l?étiologie de la déficience intellectuelle et se traduit par des profils qui sont parfois très caractéristiques. C?est le cas du syndrome de Williams qui présente des points forts relatifs dans les domaines du langage ou de la reconnaissance des visages, et des déficits marqués dans la cognition visuo-spatiale, le nombre, la planification et la résolution de problèmes.
There is evidence that spatial thinking is malleable, and that spatial and mathematical skills are associated (Mix et al.  Journal of Experimental Psychology: General, 145, 1206; Mix et al.  Journal of Cognition and Development, 18, 465; Uttal et al.  Psychological Bulletin, 139, 352). However, few studies have investigated transfer of spatial training gains to mathematics outcomes in children, and no known
studies have compared different modes of spatial instruction (explicit vs. implicit instruction). Based on a sample of 250 participants, this study compared the effectiveness of explicit and implicit spatial instruction in eliciting near transfer (to the specific
spatial skills trained), intermediate transfer (to untrained spatial skills) and far transfer (to mathematics domains) at age 8. Spatial scaling and mental rotation skills were chosen as training targets as previous studies have found, and proposed explanations for, associations between these skills and mathematics in children of this age
(Journal of Experimental Psychology: General, 145, 2016 and 1206). In this study, spatial
training led to near, intermediate and far transfer of gains. Mental visualization and
proportional reasoning were proposed to explain far transfer from mental rotation
and spatial scaling skills respectively. For most outcomes, except for geometry, there
was no difference in the effectiveness of implicit (practice with feedback) compared
to explicit instruction (instructional videos). From a theoretical perspective, the study
identified a specific causal effect of spatial skills on mathematics skills in children.
Practically, the results also highlight the potential of instructional videos as a method
of introducing spatial thinking into the classroom.
Wilkinson Hannah R., Smid Claire, Morris Su, Farran Emily K., Dumontheil Iroise, Mayer Sveta, Tolmie Andrew, Bell Derek, Porayska-Pomsta Ka[ka, Holmes Wayne, Mareschal Denis, Thomas Michael S. C. (2019) Domain-Specific Inhibitory Control Training to Improve Children?s Learning of Counterintuitive Concepts in Mathematics and Science.,Journal of Cognitive Enhancement
Springer International Publishing
Evidence from cognitive neuroscience suggests that learning counterintuitive concepts in mathematics and science requires
inhibitory control (IC). This prevents interference from misleading perceptual cues and naïve theories children have built from
their experiences of the world. Here, we (1) investigate associations between IC, counterintuitive reasoning, and academic
achievement and (2) evaluate a classroom-based computerised intervention, called Stop & Think, designed to embed IC training
within the learning domain (i.e. mathematics and science content from the school curricula). Cross-sectional analyses of data
from 627 children in Years 3 and 5 (7- to 10-year-olds) demonstrated that IC, measured on a Stroop-like task, was associated with
counterintuitive reasoning and mathematics and science achievement. A subsample (n = 456) participated either in Stop & Think
as a whole-class activity (teacher-led, STT) or using individual computers (pupil-led, STP), or had teaching as usual (TAU). For
Year 3 children (but not Year 5), Stop & Think led to better counterintuitive reasoning (i.e. near transfer) in STT (p
2 = .041) compared to TAU. Achievement data was not available for Year 3 STP or Year 5 STT.
For Year 3, STT led to better science achievement (i.e. far transfer) compared to TAU (
to the Stroop-like measure of IC. Overall, these findings support the idea that IC may contribute to counterintuitive reasoning and
mathematics and science achievement. Further, we provide preliminary evidence of a domain-specific IC intervention with
transferable benefits to academic achievement for Year 3 children.
Rapidly and accurately processing information from faces is a critical human function that is known to improve with developmental age. Understanding the underlying drivers of this improvement remains a contentious question, with debate continuing as to the presence of early vs. late maturation of face-processing mechanisms. Recent behavioural evidence suggests an important ?hallmark? of expert face processing ? the face inversion effect ? is present in very young children, yet neural support for this remains unclear. To address this, we conducted a detailed investigation of the neural dynamics of face processing in children spanning a range of ages (6?11 years) and adults. Uniquely, we applied multivariate pattern analysis (MVPA) to the electroencephalogram signal (EEG) to test for the presence of a distinct neural profile associated with canonical upright faces when compared both to other objects (houses) and to inverted faces. Results revealed robust discrimination profiles, at the individual level, of differentiated neural activity associated with broad face categorization and further with its expert processing, as indexed by the face inversion effect, from the youngest ages tested. This result is consistent with an early functional maturation of broad face processing mechanisms. Yet, clear quantitative differences between the response profile of children and adults is suggestive of age-related refinement of this system with developing face and general expertise. Standard ERP analysis also provides some support for qualitative differences in the neural response to inverted faces in children in contrast to adults. This neural profile is in line with recent behavioural studies that have reported impressively expert early face abilities during childhood, while also providing novel evidence of the ongoing neural specialisation between child and adulthood.
Objectives Motor difficulties are often reported in individuals with attention deficit hyperactivity disorder (ADHD). The aims of this study are to detail themotor profile of childrenwith ADHD and to determine whether themotor impairment present in a large proportion of children with ADHD represents a phenotypic characteristic of ADHD or a co-occurring deficit.
Methods Participants with ADHD (N = 51; age 8 to 15 years) and typically developing (TD) motor matched control children
(N = 75; age 4 to 11 years) completed the largest battery of assessments of motor function that have been used with this
population to date, as well as a measure of inhibition as a behavioural measure of ADHD characteristics. Parents/caregivers also completed questionnaires relating to ADHD symptomology and a retrospective report of their child?s motor milestone
Results A motor deficit was observed in 47% of our ADHD sample. Few relationships were observed between ADHD core
characteristics and motor competence. Furthermore, there was an uneven profile of motor performance across different motor
tasks, relative to the TD children. Interestingly, it appears that motor milestone achievement is not delayed in ADHD.
Conclusions Our findings suggest that the motor deficit observed in ADHD is not inherent to ADHD. The motor deficit observed
in some children with ADHD does not represent a simple delay in development and is not observed in infancy with respect to reaching motor milestones.
Motor difficulties are present across a range of neurodevelopmental disorders, impacting on the development of other domains and on overall quality of life. One population that shows difficulties with their motor abilities is composed of individuals with Williams syndrome (WS). The purposes of the current study were to investigate the motor profile of individuals with WS and to investigate the relationships between physical activity and motor performance in this group.
The motor performance of 36 individuals with WS was measured using the Bruininks-Oseretsky Test of Motor Proficiency, second edition (BOT2-SF) short form. Physical activity was also measured using our novel questionnaire. Performance on both measures was compared with that of typically developing (TD) children aged 4 to 7 years (N = 40).
Results indicate that the individuals with WS (aged 12 to 50 years) performed at the level of TD 4- to 5-year olds with respect to overall motor ability. On examination of the motor profile, a relative strength in upper limb control and a relative weakness in balance were identified for this group. While a correlation was found between motor ability and the amount of physical activity that participants engaged in on a weekly basis in the TD group, no such relationship was found in the WS group.
The motor problems that individuals with WS show in childhood persist into older childhood and adulthood, and akin to the WS cognitive profile, there are relative strengths and weaknesses in the WS motor profile. The lack of correlation between physical activity and motor ability in the WS group may be due to the lack of opportunity to access age- and ability-appropriate activities.