Psychopathology and behavior problems in children and adolescents with Williams syndrome: Distinctive relationships with cognition

Several studies have documented the high prevalence of psychopathology and behavior problems in Williams syndrome (WS). However, the links between cognitive development and such symptoms need further clarification. Our study aims to expand current knowledge on levels of behavior problems and its links to cognition in a sample of Brazilian individuals with WS. A total of 25 children and adolescents with WS and their parents participated in this study. The participants’ IQs were assessed with the Wechsler Scales of Intelligence (for children or adults) and parental reports of psychopathology/behavior problems were collected using the Child Behavior Checklist (CBCL). The presence of clinically significant attention problems was a main feature in our sample of children and adolescents with WS. In the children, higher IQ scores were found to be significantly associated with less externalizing problems, while in the adolescents cognitive abilities were found to be associated with less internalizing symptoms. These results provide further insight into the links between psychopathology and behavior problems and cognitive abilities in WS, and suggest the need to take age into consideration when analyzing such relationships.     

Attentional disengagement in adults with Williams syndrome

Williams syndrome (WS) is a neurodevelopmental disorder characterized by a distinctive behavioral and cognitive profile, including widespread problems with attention. However, the specific nature of their attentional difficulties, such as inappropriate attentional allocation and/or poor attentional disengagement abilities, has yet to be elucidated. Furthermore, it is unknown if there is an underlying difficulty with the temporal dynamics of attention in WS or if their attentional difficulties are task-dependent, because previous studies have examined attention in established areas of deficit and atypicality (specifically, visuospatial and face processing). In this study, we examined attentional processing in 14 adults with WS (20–59 years) and 17 typically developing controls (19–39 years) using an attentional blink (AB) paradigm. The AB is the decreased ability to detect a second target when it is presented in close proximity to an initial target. Overall, adults with WS had an AB that was prolonged in duration, but no different in magnitude, compared with typically developing control participants. AB performance was not explained by IQ, working memory, or processing speed in either group. Thus, results suggest that the attention problems in WS are primarily due to general attentional disengagement difficulties rather than inappropriate attentional allocation.     

Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown

Williams syndrome (WS) is a rare genetic disorder that results in severe visual-spatial cognitive deficits coupled with relative sparing in language, face recognition, and certain aspects of motion processing. Here, we look for evidence for sparing or impairment in another cognitive system-object recognition. Children with WS, normal mental-age (MA) and chronological age-matched (CA) children, and normal adults viewed pictures of a large range of objects briefly presented under various conditions of degradation, including canonical and unusual orientations, and clear or blurred contours. Objects were shown as either full-color views (Experiment 1) or line drawings (Experiment 2). Across both experiments, WS and MA children performed similarly in all conditions while CA children performed better than both WS group and MA groups with unusual views. This advantage, however, was eliminated when images were also blurred. The error types and relative difficulty of different objects were similar across all participant groups. The results indicate selective sparing of basic mechanisms of object recognition in WS, together with developmental delay or arrest in recognition of objects from unusual viewpoints. These findings are consistent with the growing literature on brain abnormalities in WS which points to selective impairment in the parietal areas of the brain. As a whole, the results lend further support to the growing literature on the functional separability of object recognition mechanisms from other spatial functions, and raise intriguing questions about the link between genetic deficits and cognition.     

Configural and local processing of faces in children with Williams syndrome

Three experiments investigated face processing in children with Williams syndrome (WS). In Experiment 1, the ability to discriminate different aspects of faces was compared between WS subjects and a group of children individually matched for chronological age (CA-matches) and another group matched for mental age (MA-matches). In Experiments 2 and 3, the ability to process the local and configural aspects of geometrical patterns and faces was assessed within the same groups of subjects. The results indicated that the WSs' overall performance on face recognition was below that of the CA-matches, but similar to that of the MA-matches. This study revealed in addition that the CA- and MA-matches showed a bias toward a configural mode of face and geometrical shape processing, whereas children with WS did not show any bias. These findings suggest that face processing undergoes an abnormal developmental course in WS.     

Morphological patterns in Hungarian children with Williams syndrome and the rule debates

Williams syndrome (WMS), a rare neurogenetic disorder, has been in the forefront of research in cognitive psychology for the last 10 years. Studies of grammatical development in 14 Hungarian WMS children are presented: they were examined on tasks testing regular and irregular morphology; measures of digit span were also obtained. Results on the production of accusative and plural forms confirmed for Hungarian that regardless of the frequency of the item, inflected forms of irregulars are harder to produce, and often regularized in WMS, revealing a dissociation between the rules of grammar vs. the mental lexicon. Overall performance on the morphology task is associated with the capacity of phonological short-term memory: subjects with higher span perform better on both tasks. The specification of the surprisingly close relation of phonological short-term memory with the linguistic measures awaits further study.     

A comparison of various forms of reinforcement with and without extinction as treatment for escape-maintained problem behavior

The present investigation compared the effects of reinforcing compliance with either positive or negative reinforcement for a participant who displayed escape-maintained problem behavior. The results indicated that positive reinforcement in the form of a highly preferred edible or leisure item produced higher levels of compliance and lower levels of problem behavior when compared to negative reinforcement in the form of escape from demands. In addition, an extinction procedure was unnecessary to achieve high levels of compliance.     

Environmental sound recognition by timbre in children with Williams syndrome

Anecdotal reports have described children with Williams syndrome (WS) as presenting outstanding skills for recognizing environmental sounds by their timbre. This has led to suggest that the skills for environmental sound recognition by timbre are highly developed in WS. Furthermore, the term hypertimbria has been proposed to refer to this feature. However, no academic research has assessed these skills in WS. This study therefore aimed to contrast the reports on the highly developed skills for environmental sound recognition by timbre in children with WS. An environmental sound recognition task was administered to children with WS, children with Down syndrome of the same chronological age and cognitive level, and chronological age-matched typically developing children. Participants with WS performed significantly lower than their typically developing peers and no significant differences were found between the WS and Down syndrome groups. Unlike previous reports, this study points out that in WS environmental sound recognition by timbre does not constitute a phenotypic strength either in absolute or relative terms. Results suggest that children with WS do not present hypertimbria or preserved skills for timbre recognition. We discuss the implications of these results for theories of cognitive modularity.     

Treatment of escape-maintained aberrant behavior with escape extinction and predictable routines

We evaluated the effects of two daily activity schedules on 2 participants' rates of aberrant behavior and their compliance. Functional analysis identified the operant function of the participants' aberrant behaviors to be escape from tasks. Participants were taught to use stimuli contained in daily schedules, and were tested based on a modified stimulus-equivalence model that consisted of flash cards and activity schedules comprised of words or photographs that corresponded to the participants' daily activities. On pretests, the participants demonstrated simple and conditional discriminations with the photographs but not with the printed stimuli. A time-delay procedure was used to teach the participants to name the flash cards. Following training, the printed activity schedules corresponded to lower rates of problem behavior and higher rates of compliance than the photographic activity schedules. Performance on posttests indicated the establishment of functional classes of stimuli involving the flash cards and activity schedules even though this type of correspondence was not directly trained.     

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.     

Mathematical skill in individuals with Williams syndrome: evidence from a standardized mathematics battery

Williams syndrome (WS) is a developmental disorder associated with relatively spared verbal skills and severe visuospatial deficits. It has also been reported that individuals with WS are impaired at mathematics. We examined mathematical skills in persons with WS using the second edition of the Test of Early Mathematical Ability (TEMA-2), which measures a wide range of skills. We administered the TEMA-2 to 14 individuals with WS and 14 children matched individually for mental-age on the matrices subtest of the Kaufman Brief Intelligence Test. There were no differences between groups on the overall scores on the TEMA-2. However, an item-by-item analysis revealed group differences. Participants with WS performed more poorly than controls when reporting which of two numbers was closest to a target number, a task thought to utilize a mental number line subserved by the parietal lobe, consistent with previous evidence showing parietal abnormalities in people with WS. In contrast, people with WS performed better than the control group at reading numbers, suggesting that verbal math skills may be comparatively strong in WS. These findings add to evidence that components of mathematical knowledge may be differentially damaged in developmental disorders.     

Delineation of a spatial working memory profile using a non-verbal eye-tracking paradigm in young children with autism and Williams syndrome

Working memory deficits profoundly inhibit children’s ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands. To address these issues, a novel eye-tracking paradigm was designed based on an adaptation of the classic A not B paradigm in order to examine the early foundations of spatial working memory capabilities in 26 developmentally delayed preschool children with ASD, 18 age- and IQ-matched children with WS, and 19 age-matched typically-developing (TD) children. The results revealed evidence that foundational spatial working memory performance in ASD and WS was comparable with that of TD children. Performance was associated with intellectual ability in the ASD and TD groups, but not in the WS group. Performance was not associated with adaptive behavior in any group. These findings are discussed in the context of previous research that has been largely limited to older and substantially less developmentally delayed children with these neurodevelopmental disorders.     

A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely been studied in this context. The four disorder groups were compared with typically developing children. Cross-sectional trajectory analyses were used to compare development in a modified version of Tanaka and Farah’s part–whole task. Trajectories were constructed linking part–whole performance either to chronological age or to several measures of mental age (receptive vocabulary, visuospatial construction, and the Benton Facial Recognition Test). In addition to variable delays in onset and rate of development, we found an atypical profile in all disorder groups. These profiles were atypical in different ways, indicating multiple pathways to, and variable outcomes in, the development of face recognition. We discuss the implications for theories of face recognition in both atypical and typical development, including the idea that part–whole and rotation manipulations may tap different aspects of holistic and/or configural processing.     

Functional analysis and treatment of problem behavior evoked by noise.

We conducted a four‐part investigation to develop methods for assessing and treating problem behavior evoked by noise. In Phase 1, 7 participants with developmental disabilities who were described as being hypersensitive to specific noises were exposed to a series of noises under controlled conditions. Results for 2 of the participants verified that noise was apparently an aversive event. In Phase 2, results of functional analyses indicated that these 2 participants' problem behaviors were maintained by escape from noise. In Phase 3, preference assessments were conducted to identify reinforcers that might be used during treatment. Finally, in Phase 4, the 2 participants' problem behaviors were successfully treated with extinction, stimulus fading, and a differential‐reinforcement‐of‐other‐behavior (DRO) contingency (only 1 participant required DRO). Treatment effects for both participants generalized to their home environments and were maintained during a follow‐up assessment. Procedures and results were discussed in terms of their relevance to the systematic assessment of noise as an establishing operation (EO) and, more generally, to the identification of idiosyncratic EO influences on behavior.     

Spatial breakdown in spatial construction: evidence from eye fixations in children with Williams syndrome

We investigated the role of executive and spatial representational processes in impaired performance of block construction tasks by children with Williams syndrome (WS), a rare genetic defect that results in severely impaired spatial cognition. In Experiment 1, we examined performance in two kinds of block construction tasks, Simple Puzzles, in which block faces contained a single color, and Complex, in which some block faces contained an arrangement of two colors. WS and control children were comparable in their ability to solve simple puzzles, and showed similar eye-fixation patterns, suggesting that basic executive processes were intact. However, WS children were severely impaired in their ability to solve complex puzzles. In these puzzles, WS children fixated the complex puzzle models and checked their partial solutions less often than normal children, but they were comparable in their ability to detect errors in their copies and almost exclusively made repairs to copies that were, in fact, incorrect. We conjecture that the abnormal fixation patterns were a consequence of impoverished spatial representations, rather than a cause of it. This conjecture was tested in Experiment 2, where we examined children's capacity to match and place individual blocks without engaging the complex executive processes required to carry out a complete puzzle solution. We found serious deficiency among WS children in both aspects of spatial representation. Moreover, estimates of the errors in representing the identity and location of model blocks derived from Experiment 2 provided a good account of the observed errors in the block construction task of Experiment 1.     

Sound attenuation and preferred music in the treatment of problem behavior maintained by escape from noise

We examined the extent to which different sounds functioned as motivating operations (MO) that evoked problem behavior during a functional analysis for two participants. Results suggested that escape from loud noises reinforced the problem behavior for one participant and escape from arguing reinforced problem behavior for the other participant. Noncontingent delivery of preferred music through sound‐attenuating headphones decreased problem behavior without the use of extinction for both participants. We discuss the results in terms of the abolishing effects of the intervention.     

Assessment and treatment of low-rate high-intensity problem behavior.

Functional analysis of low‐rate aggression was conducted during extended observation periods and showed behavior to be maintained by positive reinforcement. Treatment consisted of variable‐momentary differential reinforcement of other behavior and was successful in reducing problem behavior throughout these extended observation periods.     

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.     

A comparison of accumulated and distributed reinforcement periods with children exhibiting escape-maintained problem behavior

Differential reinforcement is a common treatment for escape-maintained problem behavior in which compliance is reinforced on a fixed-ratio (FR) 1 schedule with brief access to positive and/or negative reinforcement. Recent research suggests some individuals prefer to complete longer work requirements culminating in prolonged (i.e. accumulated) reinforcement periods relative to brief (i.e. distributed) periods, but prolonged work exposure may evoke problem behavior and prevent compliance from contacting reinforcement when treating escape-maintained problem behavior. We exposed 3 children with escape-maintained problem behavior to both distributed (FR 1 resulting in 30 s of reinforcement) and accumulated (FR 15 resulting in 7.5 min of reinforcement) arrangements to compare their efficacy in maintaining low levels of problem behavior. We then assessed participants' preferences for these conditions in a concurrent-chains arrangement. Accumulated-reinforcement arrangements did not occasion additional problem behavior, but rather resulted in consistently lower levels of problem behavior for 2 of 3 participants. Participants demonstrated idiosyncratic preferences.     

Working memory impairment in people with Williams syndrome: Effects of delay, task and stimuli

Williams syndrome (WS) is a neurodevelopmental disorder associated with impaired visuospatial representations subserved by the dorsal stream and relatively strong object recognition abilities subserved by the ventral stream. There is conflicting evidence on whether this uneven pattern in WS extends to working memory (WM). The present studies provide a new perspective, testing WM for a single stimulus using a delayed recognition paradigm in individuals with WS and typically developing children matched for mental age (MA matches). In three experiments, participants judged whether a second stimulus ‘matched’ an initial sample, either in location or identity. We first examined memory for faces, houses and locations using a 5 s delay (Experiment 1) and a 2 s delay (Experiment 2). We then tested memory for human faces, houses, cat faces, and shoes with a 2 s delay using a new set of stimuli that were better controlled for expression, hairline and orientation (Experiment 3). With the 5 s delay (Experiment 1), the WS group was impaired overall compared to MA matches. While participants with WS tended to perform more poorly than MA matches with the 2 s delay, they also exhibited an uneven profile compared to MA matches. Face recognition was relatively preserved in WS with friendly faces (Experiment 2) but not when the faces had a neutral expression and were less natural looking (Experiment 3). Experiment 3 indicated that memory for object identity was relatively stronger than memory for location in WS. These findings reveal an overall WM impairment in WS that can be overcome under some conditions. Abnormalities in the parietal lobe/dorsal stream in WS may damage not only the representation of spatial location but may also impact WM for visual stimuli more generally.