Understanding strategic information use during emotional expression judgments in Williams syndrome

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

Distinct profiles of information-use characterize identity judgments in children and low-expertise adults

Face processing abilities vary across the lifespan: 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 (~8yrs) to an increasingly more interlinked approach, focused upon the eye region and the center of the face in older children (~11yrs) and adults. Moreover, we reveal that the early vs. late phases of this developmental trajectory correspond with the profiles of information-use observed in weak vs. 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

Environmental and genetic influences on neurocognitive development: the importance of multiple methodologies and time-dependent intervention

Genetic mutations and environmental factors dynamically influence gene expression and developmental trajectories at the neural, cognitive, and behavioral levels. The examples in this article cover different periods of neurocognitive development—early childhood, adolescence, and adulthood—and focus on studies in which researchers have used a variety of methodologies to illustrate the early effects of socioeconomic status and stress on brain function, as well as how allelic differences explain why some individuals respond to intervention and others do not. These studies highlight how similar behaviors can be driven by different underlying neural processes and show how a neurocomputational model of early development can account for neurodevelopmental syndromes, such as autism spectrum disorders, with novel implications for intervention. Finally, these studies illustrate the importance of the timing of environmental and genetic factors on development, consistent with our view that phenotypes are emergent, not predetermined

Attention deficits predict phenotypic outcomes in syndrome-specific and domain-specific ways

Attentional difficulties, both at home and in the classroom, are reported across a number of neurodevelopmental disorders. However, exactly how attention influences early socio-cognitive learning remains unclear. We addressed this question both concurrently and longitudinally in a cross-syndrome design, with respect to the communicative domain of vocabulary and to the cognitive domain of early literacy, and then extended the analysis to social behavior. Participants were young children (aged 4–9 years at Time 1) with either Williams syndrome (WS, N = 26) or Down syndrome (DS, N = 26) and typically developing controls (N = 103). Children with WS displayed significantly greater attentional deficits (as indexed by teacher report of behavior typical of attention deficit hyperactivity disorder (ADHD) than children with DS, but both groups had greater attentional problems than the controls. Despite their attention differences, children with DS and those with WS were equivalent in their cognitive abilities of reading single words, both at Time 1 and 12 months later, at Time 2, although they differed in their early communicative abilities in terms of vocabulary. Greater ADHD-like behaviors predicted poorer subsequent literacy for children with DS, but not for children with WS, pointing to syndrome-specific attentional constraints on specific aspects of early development. Overall, our findings highlight the need to investigate more precisely whether and, if so, how, syndrome-specific profiles of behavioral difficulties constrain learning and socio-cognitive outcomes across different domains

Cross-Domain Associations Between Motor Ability, Independent Exploration, and Large-Scale Spatial Navigation; Attention Deficit Hyperactivity Disorder, Williams Syndrome, and Typical Development.

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

A comparison of the development of audiovisual integration in children with autism spectrum disorders and typically developing children

This study aimed to investigate the development of audiovisual integration in children with Autism Spectrum Disorder (ASD). Audiovisual integration was measured using the McGurk effect in children with ASD aged 7–16 years and typically developing children (control group) matched approximately for age, sex, nonverbal ability and verbal ability. Results showed that the children with ASD were delayed in visual accuracy and audiovisual integration compared to the control group. However, in the audiovisual integration measure, children with ASD appeared to ‘catch-up’ with their typically developing peers at the older age ranges. The suggestion that children with ASD show a deficit in audiovisual integration which diminishes with age has clinical implications for those assessing and treating these children

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

Psychopathology in Williams syndrome: the effect of individual differences across the lifespan

The present research aimed to comprehensively explore psychopathology in Williams syndrome (WS) across the lifespan and evaluate the relationship between psychopathology and age category (child or adult), gender and cognitive ability. The parents of 50 participants with WS, aged 6-50 years, were interviewed using the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS-PL). The prevalence of a wide range of Axis I DSM-IV disorders was assessed. In addition to high rates of anxiety and Attention Deficit Hyperactivity Disorder (ADHD) (38% and 20% respectively), 14% of our sample met criteria for a depressive disorder and 42% of participants were not experiencing any significant psychopathological difficulties. There was some evidence for different patterns of psychopathology between children and adults with WS and between males and females. These relationships were largely in keeping with those found in the typically developing population, thus supporting the validity of applying theory and treatment approaches for psychopathology in the typically developing population to WS

Dynamic sustained attention markers differentiate atypical development: the case of Williams syndrome and Down's syndrome

Impaired sustained attention is considered an important factor in determining poor functional outcomes across multiple cognitive and behavioural disorders. Sustained attention is compromised for both children with Williams syndrome (WS) and Down's syndrome (DS), but specific difficulties remain poorly understood because of limitations in how sustained attention has been assessed thus far. In the current study, we compared the performance of typically developing children (N = 99), children with WS (N = 25), and children with DS (N = 18), on a Continuous Performance Task - a standard tool for measuring sustained attention. In contrast to previous studies, primarily focused on overall differences in mean performance, we estimated the extent to which performance changed over time on task, thus focusing directly on the sustained element of performance. Children with WS and children with DS performed more poorly overall compared to typically developing children. Importantly, measures specific to changes over time differentiated between children with the two syndromes. Children with WS showed a decrement in performance, whereas children with Down's syndrome demonstrated non-specific poor performance. In addition, our measure of change in performance predicted teacher-rated attention deficits symptoms across the full sample. An approach that captures dynamic changes in performance over assessments may be fruitful for investigating similarities and differences in sustained attention for other atypically developing populations. [Abstract copyright: Copyright © 2019. Published by Elsevier Ltd.

Past Tense Formation in Williams Syndrome

It has been claimed that in the language systems of people with Williams syndrome (WS), syntax is intact but lexical memory is impaired. Evidence has come from past tense elicitation tasks with a small number of participants where individuals with WS are said to have a specific deficit in forming irregular past tenses. However, typically developing children also show poorer performance on irregulars than regulars in these tasks, and one of the central features of WS language development is that it is delayed. We compared the performance of 21 participants with WS on two past tense elicitation tasks with that of four typically developing control groups, at ages 6, 8, 10, and adult. When verbal mental age was controlled for, participants in the WS group displayed no selective deficit in irregular past tense performance. However, there was evidence for lower levels of generalisation to novel strings. This is consistent with the hypothesis that the WS language system is delayed because it has developed under different constraints, constraints that perhaps include atypical phonological representations. The results are discussed in relation to dual-mechanism and connectionist computational models of language development, and to the possible differential weight given to phonology versus semantics in WS development