Williams Syndrome Participants Research Articles

Body mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors.

Dietary intake and body weight are important predictors of long-term health. However, few studies have focused on these topics in adults with genetic syndromes that have associated intellectual disability, such as Williams syndrome (WS). In adults with WS, describe predicted dietary intake, food-related problems, and associations between body mass index (BMI) and possible factors contributing to differences in weight status. In this study of 82 participants (median age of 30 years, range 18-69), we cross sectionally investigated associations between BMI, predicted dietary intakes (Dietary Screener Questionnaire), food-related behaviors (Food-Related Problem Questionnaire), and anxiety (Spence Children's Anxiety Scale). Longitudinal patterns of weight change were further studied in a subset (n = 41). BMI variation was observed with median BMI of 27.3 kg/m2 (range 16.7-55.5 kg/m2). Several components of dietary intake deviated from recommendations in the WS cohort. When compared with WS participants with either normal or overweight BMI, WS participants with obesity had reduced daily intake of fruits and vegetables of 0.15 cup equivalents (P = 0.049), while participants with underweight BMI had reduced daily intake of fruits and vegetables of 0.44 cup equivalents (P = 0.026) and additionally had reduced intake of dietary fiber of 2.12 grams per day (P = 0.019). A one-point increase in the 'preoccupation with food' sub-score was associated with a 0.57 unit increase in BMI (P = 0.16), while a one-point increase in the 'takes and stores food' sub-score was associated with a 0.72 unit increase in BMI. In the longitudinal weight subset, a weight gain group and a weight stable group were identified. The former was associated with increased 'takes and stores food' sub-score but not with dietary intakes. We observed considerable BMI variability. While few dietary intakes were associated with BMI, increased BMI and weight gain were associated with 'preoccupation with food' and with 'takes and stores food' behavior sub-scores.

Local vs global processing in Williams syndrome

BackgroundIt has long been debated whether in Williams syndrome (WS) there is a preferential processing of local with respect to global forms, in contrast to the typical ‘global advantage’ in healthy individuals, which in WS seems to exist only for faces. AimsWe aimed at verifying it and to assess the role of stimulus familiarity by comparing performances with faces to those with other objects using the same type of task. Methods and procedureA group of children and adolescents with WS and controls with typical development performed a modified version of three tasks: Mooney (with faces and/or guitars), Jane (with faces and houses) and Navon task. Outcomes and resultsIndividuals with WS were able to process at a global level not only faces but also objects, although they were impaired when they had to compare or discriminate between two stimuli. All groups showed an advantage for global processing, with familiarity improving it. However, WS participants did not benefit from familiarity as much as typically developing young individuals. Conclusions and implicationsPeculiar abilities for face stimuli in WS did not emerge nor did a clear facilitation related to object familiarity. These results are useful for planning effective interventions.

Visuospatial bias in line bisection in Williams syndrome.

Recently, a study using the subjective straight-ahead task showed that individuals with Williams syndrome (WS) present a bias in the representation of body perception. The aim of the present study is to examine the horizontal midline body representation in WS participants using the bisection line task, which is an important benchmark for an egocentric frame of reference. Fifteen WS participants (mean age=21.7±9.5years) were compared with two typical development control groups: one composed of 15 participants matched on chronological age and one composed of 15 children matched on mental age. The task consisted of dividing each line in a series of 18 lines into two equal halves by drawing a vertical mark with a pencil in the centre of the line. Individuals with WS presented a significant leftward bias in comparison to mental age and chronological age groups. The leftward deviation in WS could be linked to the body representation bias and difficulties in the development of the egocentric reference system. An early detection of such deviation should help in the development of targeted interventions for WS individuals to improve visual-spatial skills and learning.

What gestures reveal about cognitive deficits in Williams Syndrome

ABSTRACTGestures have a central role in speaking and thinking about spatial information. The goal of the present study is to examine the function of gestures in Williams Syndrome (WS), a genetic disorder characterized by spatial impairments and a preservation of communication. The study’s subjects were 11 WS individuals and 22 typically-developing controls who performed a narrative task. We analyzed offline gesture production and its relation with language and spatial information. Compared to the control groups, WS individuals produced more representational gestures that anticipated, supplemented, or gesture-only communication. Gestures produced by WS participants serve a compensatory role particularly in representing spatial contents.

How Flexible is the Use of Egocentric Versus Allocentric Frame of Reference in the Williams Syndrome Population?

This study examined the spontaneous use of allocentric and egocentric frames of reference and their flexible use as a function of instructions. The computerized spatial reference task created by Heiz and Barisnikov (2015) was used. Participants had to choose a frame of reference according to three types of instructions: spontaneous, allocentric and egocentric. The performances of 16 Williams Syndrome participants between 10 and 41 years were compared to those of two control groups (chronological age and non-verbal intellectual ability). The majority of Williams Syndrome participants did not show a preference for a particular frame of reference. When explicitly inviting participants to use an allocentric frame of reference, all three groups showed an increased use of the allocentric frame of reference. At the same time, an important heterogeneity of type of frame of reference used by Williams Syndrome participants was observed. Results demonstrate that despite difficulties in the spontaneous use of allocentric and egocentric frames of reference, some Williams Syndrome participants show flexibility in the use of an allocentric frame of reference when an explicit instruction is provided.

Morphological differences in the mirror neuron system in Williams syndrome

Williams syndrome (WS) is a genetic condition characterized by an overly gregarious personality, including high empathetic concern for others. Although seemingly disparate from the profile of autism spectrum disorder (ASD), both are associated with deficits in social communication/cognition. Notably, the mirror neuron system (MNS) has been implicated in social dysfunction for ASD; yet, the integrity of this network and its association with social functioning in WS remains unknown. Magnetic resonance imaging (MRI) methods were used to examine the structural integrity of the MNS of adults with WS versus typically developing (TD) individuals. The Social Responsiveness Scale (SRS), a tool typically used to screen for social features of ASD, was also employed to assess the relationships between social functioning with the MNS morphology in WS participants. WS individuals showed reduced cortical surface area of MNS substrates yet relatively preserved cortical thickness as compared to TD adults. Increased cortical thickness of the inferior parietal lobule (IPL) was associated with increased deficits in social communication, social awareness, social cognition, and autistic mannerisms. However, social motivation was not related to anatomical features of the MNS. Our findings indicate that social deficits typical to both ASD and WS may be attributed to an aberrant MNS, whereas the unusual social drive marked in WS is subserved by substrates distinct from this network.

Geometric and featural systems, separable and combined: Evidence from reorientation in people with Williams syndrome

Spatial reorientation by humans and other animals engages geometric representations of surface layouts as well as featural landmarks; however, the two types of information are thought to be behaviorally and neurally separable. In this paper, we examine the use of these two types of information during reorientation among children and adults with Williams syndrome (WS), a genetic disorder accompanied by abnormalities in brain regions that support use of both geometry and landmarks. Previous studies of reorientation in adolescents and adults with WS have shown deficits in the ability to use geometry for reorientation, but intact ability to use features, suggesting that the two systems can be differentially impaired by genetic disorder. Using a slightly modified layout, we found that many WS participants could use geometry, and most could use features along with geometry. However, the developmental trajectories for the two systems were quite different from one other, and different from those found in typical development. Purely geometric responding was not correlated with age in WS, and search processes appeared similar to those in typically developing (TD) children. In contrast, use of features in combination with geometry was correlated with age in WS, and search processes were distinctly different from TD children. The results support the view that use of geometry and features stem from different underlying mechanisms, that the developmental trajectories and operation of each are altered in WS, and that combination of information from the two systems is atypical. Given brain abnormalities in regions supporting the two kinds of information, our findings suggest that the co-operation of the two systems is functionally altered in this genetic syndrome.

Frontal asymmetry index in Williams syndrome: Evidence for altered emotional brain circuitry?

Asymmetrical frontal electroencephalography (EEG) activity is associated with motivational neural systems of approach/withdrawal behaviors. Greater left frontal EEG has been linked to increased appetitive tendencies whereas increased right frontal activity is related to the activation of avoidance mechanisms. Williams syndrome (WS) is a genetic condition characterized by a highly sociable personality manifested by a propensity to approach strangers and decreased social fear. Consequently, the current study was designed to investigate the frontal cortical activity during resting state, indexed by relative alpha power, in adults with WS as compared to typically developing (TD) controls, and a subgroup of TD extraverts. Results indicated that participants with WS produced attenuated left frontal activity relative to TD peers, or TD extraverts in particular; yet, no groups differed in their degree of right frontal activity. Finally, while both TD group and the extravert subset showed trends of greater left over right frontal activity, the WS participants demonstrated opposing effect of increased right over left frontal EEG. Importantly, individuals with WS produced deviating frontal activity patterns compared to TD extraverts despite exhibiting common social-affiliative tendencies, underscoring that neural mechanisms that give rise to extraversion in WS may not function similarly to those subserving this personality trait expressed in TD.

Hyperactive auditory processing in Williams syndrome: Evidence from auditory evoked potentials.

The neurophysiologic aberrations underlying the auditory hypersensitivity in Williams syndrome (WS) are not well defined. The P1-N1-P2 obligatory complex and mismatch negativity (MMN) response were investigated in 18 participants with WS, and the results were compared with those of 18 age- and gender-matched typically developing (TD) controls. Results revealed significantly higher amplitudes of both the P1-N1-P2 obligatory complex and the MMN response in the WS participants than in the TD controls. The P1-N1-P2 complex showed an age-dependent reduction in the TD but not in the WS participants. Moreover, high P1-N1-P2 complex was associated with low verbal comprehension scores in WS. This investigation demonstrates that central auditory processing is hyperactive in WS. The increase in auditory brain responses of both the obligatory complex and MMN response suggests aberrant processes of auditory encoding and discrimination in WS. Results also imply that auditory processing may be subjected to a delayed or diverse maturation and may affect the development of high cognitive functioning in WS.

French Williams syndrome's ability to produce judgments of grammaticality.

This article reports grammatical judgment data from eighteen French Williams syndrome (WS) (mean CA = 21.10; Mean MA = 11.2). Participants had to detect ungrammatical sentences (13 amongst a set of 26 sentences) in telling whether a given sentence was well said or not. Agrammaticality could be due to errors in tense, person agreement, gender agreement, derivational or inflectional morphology, word order and so on. As a group, WS participants scored as seven-year-olds did, far below CA-controls and MA-controls. Scores did not improve with chronological age or mental age but they were related to total IQ and verbal IQ. They showed an important variability, one similar to what was observed in four-year-olds. Although a few WS individuals had good metasyntactic abilities, these abilities generally plateau in our WS group. They were not deviant, however, as the WS's profile of difficulties across items was qualitatively very similar to the one seen in seven-year-olds.

Global dot integration in typically developing children and in Williams Syndrome

Williams Syndrome (WS) is a neurodevelopmental disorder that results in deficits in visuospatial perception and cognition. The dorsal stream vulnerability hypothesis in WS predicts that visual motion processes are more susceptible to damage than visual form processes. We asked WS participants and typically developing children to detect the global structure Glass patterns, under “static” and “dynamic” conditions in order to evaluate this hypothesis. Sequentially presented Glass patterns are coined as dynamic because they induce illusory motion, which is modeled after the interaction between orientation (form) and direction (motion) mechanisms. If the dorsal stream vulnerability holds in WS participants, then they should process real and illusory motion atypically. However, results are consistent with the idea that form and motion integration mechanisms are functionally delayed or attenuated in WS. Form coherence thresholds for both static and dynamic Glass patterns in WS were similar to those of 4–5year old children, younger than what is predicted by mental age. Dynamic presentation of Glass patterns improved thresholds to the same degree as typical participants. Motion coherence thresholds in WS were similar to those of mental age matches. These data pose constraints on the dorsal vulnerability hypothesis, and refine our understanding of the relationship between form and motion processing in development.

Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar Settings

Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in a familiar setting, while participants with WS had elevated cortisol late in the day in the novel setting when social demands were higher. The cortisol awakening response in WS was associated with parent-reported levels of somatic complaints and social difficulties. Results suggest that adults with WS have a typical diurnal cortisol profile that may be sensitive to social and activity transitions throughout the day.

Cerebellar vermis abnormalities and cognitive functions in individuals with Williams syndrome

In Williams syndrome (WS) cerebellar measures were only indirectly related to behavioral outcomes. T1-weighted magnetic resonance images and neuropsychological data were acquired to investigate whether cerebellar vermis differences were present in 12 WS individuals compared with 13 chronological age-matched controls and whether WS cerebellar vermis measures were related to cognitive scores. In WS participants, we observed a significant increase in the volume of the posterior superior cerebellar vermis (lobules VI-VII) and an atypical ratio between width and height of the cerebellar vermis. Furthermore, we found an inverse correlation between cerebellar posterior vermis volume and scores on implicit learning, phonological fluency and the verbal short-term memory tasks. The present study supported a role for the posterior cerebellar vermis in higher cognitive processes and indicated that the cerebellar vermis abnormalities (enlargement) in WS individuals have an effect in worsening the cognitive performance in specific domains.

Attribution of negative intention in Williams syndrome

People with Williams syndrome (WS) are said to have sociable and extremely trusting personalities, approaching strangers without hesitation. This study investigated whether people with WS are less likely than controls to attribute negative intent to others when interpreting a series of ambiguous pictures. This may, at least partially, explain their hypersociability toward strangers. Twenty-seven individuals with WS and 54 typically developing controls (27 matched to WS participants on sex and chronological age and 27 matched on sex and mental age) viewed 10 ambiguous pictures, where one person in the picture may be seen as having a negative objective. Participants were asked to describe what was happening in the picture. Responses were scored for negative intention attribution (NIA). NIA was reduced in WS individuals relative to typically developing controls of the same chronological age, but was similar to typically developing controls of the same mental age. Findings are discussed in relation to possible underlying neurological and cognitive mechanisms and practical implications for understanding and teaching stranger danger to people with WS.

How useful are landmarks when learning a route in a virtual environment? Evidence from typical development and Williams syndrome

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.

Continuous Cognitive Dynamics of the Evaluation of Trustworthiness in Williams Syndrome

The decision to approach or avoid an unfamiliar person is based in part on one’s evaluation of facial expressions. Individuals with Williams syndrome (WS) are characterized in part by an excessive desire to approach people, but they display deficits in identifying facial emotional expressions. Likert-scale ratings are generally used to examine approachability ratings in WS, but these measures only capture an individual’s final approach/avoid decision. The present study expands on previous research by utilizing mouse-tracking methodology to visually display the nature of approachability decisions via the motor movement of a computer mouse. We recorded mouse movement trajectories while participants chose to approach or avoid computer-generated faces that varied in terms of trustworthiness. We recruited 30 individuals with WS and 30 chronological age-matched controls (mean age = 20 years). Each participant performed 80 trials (20 trials each of four face types: mildly and extremely trustworthy; mildly and extremely untrustworthy). We found that individuals with WS were significantly more likely than controls to choose to approach untrustworthy faces. In addition, WS participants considered approaching untrustworthy faces significantly more than controls, as evidenced by their larger maximum deviation, before eventually choosing to avoid the face. Both the WS and control participants were able to discriminate between mild and extreme degrees of trustworthiness and were more likely to make correct approachability decisions as they grew older. These findings increase our understanding of the cognitive processing that underlies approachability decisions in individuals with WS.

Neural processing of race by individuals with Williams syndrome: Do they show the other-race effect? (And why it matters)

Williams syndrome (WS)is a genetic condition with a distinctive social phenotype characterized by excessive sociability accompanied by a relative proficiency in face recognition, despite severe deficits in the visuospatial domain of cognition. This consistent phenotypic characteristic and the relative homogeneity of the WS genotype make WS a compelling human model for examining genotype–phenotype relations, especially with respect to social behavior. Following up on a recent report suggesting that individuals with WS do not show race bias and racial stereotyping, this study was designed to investigate the neural correlates of the perception of faces from different races, in individuals with WS as compared to typically developing (TD) controls. Caucasian WS and TD participants performed a gender identification task with own-race (White) and other-race (Black) faces while event-related potentials (ERPs) were recorded. In line with previous studies with TD participants, other-race faces elicited larger amplitude ERPs within the first 200 ms following the face onset, in WS and TD participants alike. These results suggest that, just like their TD counterparts, individuals with WS differentially processed faces of own-race versus other-race, at relatively early stages of processing, starting as early as 115 ms after the face onset. Overall, these results indicate that neural processing of faces in individuals with WS is moderated by race at early perceptual stages, calling for a reconsideration of the previous claim that they are uniquely insensitive to race.

Preliminary evidence of abnormal white matter related to the fusiform gyrus in Williams syndrome: a diffusion tensor imaging tractography study

Williams syndrome (WS) is a genetic condition caused by a hemizygous microdeletion on chromosome 7q11.23. WS is characterized by a distinctive social phenotype composed of increased drive toward social engagement and attention toward faces. In addition, individuals with WS exhibit abnormal structure and function of brain regions important for the processing of faces such as the fusiform gyrus. This study was designed to investigate if white matter tracts related to the fusiform gyrus in WS exhibit abnormal structural integrity as compared to typically developing (TD; age matched) and developmentally delayed (DD; intelligence quotient matched) controls. Using diffusion tensor imaging data collected from 40 (20 WS, 10 TD and 10 DD) participants, white matter fibers were reconstructed that project through the fusiform gyrus and two control regions (caudate and the genu of the corpus callosum). Macro-structural integrity was assessed by calculating the total volume of reconstructed fibers and micro-structural integrity was assessed by calculating fractional anisotropy (FA) and fiber density index (FDi) of reconstructed fibers. WS participants, as compared to controls, exhibited an increase in the volume of reconstructed fibers and an increase in FA and FDi for fibers projecting through the fusiform gyrus. No between-group differences were observed in the fibers that project through the control regions. Although preliminary, these results provide further evidence that the brain anatomy important for processing faces is abnormal in WS.

The extent of working memory deficits associated with Williams syndrome: Exploration of verbal and spatial domains and executively controlled processes

The present study investigated verbal and spatial working memory (WM) functioning in individuals with the neuro-developmental disorder Williams syndrome (WS) using WM component tasks. While there is strong evidence of WM impairments in WS, previous research has focused on short-term memory and has neglected assessment of executive components of WM. There is a particular lack of consensus concerning the profile of verbal WM functioning in WS. Here, WS participants were compared to typically developing participants matched for (1) verbal ability and (2) spatial ability ( N = 14 in each of the 3 groups). Individuals with WS were impaired on verbal WM tasks, both those involving short-term maintenance of information and executive manipulation, in comparison to verbal-matched controls. Surprisingly, individuals with WS were not impaired on a spatial task assessing short-term maintenance of information in memory (remembering spatial locations) compared to spatial-matched controls. They were, however, impaired on a spatial executive WM task requiring the manipulation of spatial information in memory. The present study suggests that individuals with WS show WM impairments that extend to both verbal and spatial domains, although spatial deficits are selective to executive aspects of WM function.

Explorative function in Williams syndrome analyzed through a large-scale task with multiple rewards

This study aimed to evaluate spatial function in subjects with Williams syndrome (WS) by using a large-scale task with multiple rewards and comparing the spatial abilities of WS subjects with those of mental age-matched control children. In the present spatial task, WS participants had to explore an open space to search nine rewards placed in buckets arranged according to three spatial configurations: a cross, a 3 × 3 matrix and a cluster composed by three groups of three buckets each. The findings demonstrate that WS individuals were impaired in efficiently exploring the environment and in building cognitive spatial maps. In exploring the three spatial configurations, they performed worse than control subjects on all parameters analyzed. In fact, WS individuals took more time to complete the task, made more errors, performed a reduced number of error-free trials, displayed lower search efficiency, exhibited shorter spatial spans, showed a higher number of no-visits and displayed marked tendencies to perseverate and to neglect some buckets. Furthermore, WS individuals showed disorganized explorative patterns in comparison to control children. WS influenced performances differentially as a specific effect of the susceptibility of the configurations to being explored in a principled way. In the cross configuration that had strong spatial constraints, both groups exhibited their worst performances. In the matrix configuration, the altered explorative strategies of the WS subjects primarily affected their central exploration. The performances in the cluster configuration indicated that chunking was a strategy of strength in both TD and WS groups. In conclusion, WS individuals’ deficits exhibited in the present explorative test may be considered an index of their difficulties in spatial orientation and motion perception displayed in the real world. The marked impairment in spatial information processing is discussed in neuro-anatomical alterations reported in WS.