What can neurodevelopmental disorders tell us about developmental pathways? Realising neuroconstructivist principles now and in the future

In this chapter the author describes her programme of research applying neuroconstructivist principles to the study of spatial cognition in developmental disorders. These principles include the use of cross-domain associations within disorders; cross-syndrome comparisons of abilities; the use of trajectory analysis to study developmental change, either in cross-sectional or longitudinal studies; and the origin of individual variation within disorders. The author provides the example of the new Williams Syndrome Development group, led by Jo van Herwegen, which is compiling longitudinal data across labs, including many of Annette Karmiloff-Smith's collaborators. Visuospatial cognition refers to the ability to perceive and interact with the visual world, for example, being able to individuate objects, to perceive the location and shape of objects and to understand the relationships between them. Cross-domain interactions occur as part of typical and atypical developmental trajectories. Equally, task completion is influenced by an individual’s strengths and weaknesses

Introduction: Williams syndrome: A model for the neuroconstructivist approach

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

The effect of pictorial depth information on projected size judgments.

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

First demonstration of effective spatial training for near-transfer to spatial performance and far-transfer to a range of mathematics skills at 8 years

There is evidence that spatial thinking is malleable, and that spatial and mathematical skills are associated (Mix et al. [2016] Journal of Experimental Psychology: General, 145, 1206; Mix et al. [2017] Journal of Cognition and Development, 18, 465; Uttal et al. [2013] 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

Field Independence Associates with Mathematics and Science Performance in 5-to 10-Year-Olds after Accounting for Domain-General Factors

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 that lead to these associations. Here, we investigated behavioral associations between two measures of field independence (Children's Embedded Figures Test [CEFT] and Design Organization Test [DOT]) and performance on tests of mathematics (reasoning and written arithmetic) and science (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, intelligence, 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

The development of spatial category representations from 4 to 7 years

Representation of spatial categories was assessed in 4- to 7-year-olds. Across nine spatial categories (In, On, Under, In Front, Behind, Above, Below, Left, and Right), children were asked to pick the odd-one-out from four images, three of which displayed the same spatial relationship between two objects, and one which showed a different spatial relationship. Results support our proposed model of spatial category representation. Children progressed through three levels of understanding: from rigid (level 1), to abstract (level 2) to broad (including non-prototypical category exemplars) (level 3) understanding of spatial category membership. This developmental pattern was common to all spatial categories, and the ages at which children reached each level varied across categories, in line with the order in which category representations emerge in infancy

Thinking inside the box: Spatial frames of reference for drawing in Williams syndrome and typical development

Background: 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. Aims: 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). Methods and procedures: 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. Outcomes and results: Both groups were sensitive to spatial frames of reference when drawing single lines and whole shapes, imposed by a frame around the drawing space. Conclusions and implications: A local processing bias in WS cannot explain poor drawing performance in WS

The contribution of spatial ability to mathematics achievement in middle childhood

Strong spatial skills are associated with success in science, technology, engineering, and mathematics (STEM) domains. Although there is convincing evidence that spatial skills are a reliable predictor of mathematical achievement in preschool children and in university students, there is a lack of research exploring associations between spatial and mathematics achievement during the primary school years. To address this question, this study explored associations between mathematics and spatial skills in children aged 5 and 7years. The study sample included 12,099 children who participated in both Wave 3 (mean age=5; 02 [years; months]) and Wave 4 (mean age=7; 03) of the Millennium Cohort Study. Measures included a standardised assessment of mathematics and the Pattern Construction subscale of the British Ability Scales II to assess intrinsic-dynamic spatial skills. Spatial skills at 5 and 7years of age explained a significant 8.8% of the variation in mathematics achievement at 7years, above that explained by other predictors of mathematics, including gender, socioeconomic status, ethnicity, and language skills. This percentage increased to 22.6% without adjustment for language skills. This study expands previous findings by using a large-scale longitudinal sample of primary school children, a population that has been largely omitted from previous research exploring associations between spatial ability and mathematics achievement. The finding that early and concurrent spatial skills contribute to mathematics achievement at 7years of age highlights the potential of spatial skills as a novel target in the design of mathematics interventions for children in this age range

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Background 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. Methods 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. Results 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. Conclusions 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

Improving research quality: the view from the UK Reproducibility Network institutional leads for research improvement

The adoption and incentivisation of open and transparent research practices is critical in addressing issues around research reproducibility and research integrity. These practices will require training and funding. Individuals need to be incentivised to adopt open and transparent research practices (e.g., added as desirable criteria in hiring, probation, and promotion decisions, recognition that funded research should be conducted openly and transparently, the importance of publishers mandating the publication of research workflows and appropriately curated data associated with each research output). Similarly, institutions need to be incentivised to encourage the adoption of open and transparent practices by researchers. Research quality should be prioritised over research quantity. As research transparency will look different for different disciplines, there can be no one-size-fits-all approach. An outward looking and joined up UK research strategy is needed that places openness and transparency at the heart of research activity. This should involve key stakeholders (institutions, research organisations, funders, publishers, and Government) and crucially should be focused on action. Failure to do this will have negative consequences not just for UK research, but also for our ability to innovate and subsequently commercialise UK-led discovery