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Williams Syndrome (williams + syndrome)

Distribution by Scientific Domains

Medical Sciences	31%
Psychology	25%

Selected Abstracts

A Case Report of Rapid Progressive Coarctation and Severe Middle Aortic Syndrome in an Infant with Williams Syndrome

CONGENITAL HEART DISEASE, Issue 5 2009
E. Kevin Hall MD
ABSTRACT Williams syndrome is a genetic disorder caused by multiple contiguous gene deletions in chromosome 7. Presentation in early life is most often a result of luminal stenosis of right- and left-sided arterial vasculature. We report the case of a newborn infant who had a rapidly progressing diffuse form of arteriopathy that required two surgeries and one percutaneous balloon dilation within the first 2 months of her life. [source]

Cognitive, Linguistic and Adaptive Functioning in Williams Syndrome: Trajectories from Early to Middle Adulthood

JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 4 2010
Patricia Howlin
Background, Little is known about trajectories of cognitive functioning as individuals with Williams syndrome (WS) move though adulthood. Method, The present study investigated cognitive, linguistic and adaptive functioning in adults with WS aged 19,55 years, using both cross-sectional and longitudinal approaches. Results, Data from the cross-sectional study (n = 92; mean age = 32 years) indicated that IQ was comparable across age groups (Full-Scale IQ mean = 56,57) with Verbal IQ being slightly higher than Performance IQ. Daily Living Skills (as measured by the Vineland Adaptive Behavior Scales) were significantly higher in older individuals. Language abilities showed no consistent age-related differences. On formal tests of language, comprehension scores were higher than expressive language scores for almost all individuals, although this pattern was not replicated on the Vineland. In the longitudinal study, a follow-up of 47 individuals (mean age = 37 years) first assessed 12 years previously, similar trajectories were found. IQ remained very stable (FSIQ = 61,62 at both time points); there were significant improvements on the Social and Daily Living domains of the Vineland and significant decreases in Maladaptive scores. There were no improvements in language over time. Conclusions, The data indicate that adults with WS (at least up to the age of 50 years) show no evidence of deterioration in cognitive skills. Adaptive abilities continue to develop although language shows relatively little improvement with time. [source]

A Case Report of Rapid Progressive Coarctation and Severe Middle Aortic Syndrome in an Infant with Williams Syndrome

Mathematical skills in Williams syndrome: Insight into the importance of underlying representations

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2009
Kirsten O'Hearn
Abstract Williams syndrome (WS) is a developmental disorder characterized by relatively spared verbal skills and severe visuospatial deficits. Serious impairments in mathematics have also been reported. This article reviews the evidence on mathematical ability in WS, focusing on the integrity and developmental path of two fundamental representations, namely those that support judgments of "how much" (i.e., magnitude) and "how many" (i.e., number of objects). Studies on magnitude or "number line" representation in WS suggest that this core aspect of mathematical ability, is atypical in WS throughout development, causing differences on some but not all aspects of math. Studies on the representation of small numbers of objects in WS are also reviewed, given the proposed links between this type of representation and early number skills such as counting. In WS, representation appears to be relatively typical in infancy but limitations become evident by maturity, suggesting a truncated developmental trajectory. The math deficits in WS are consistent with neurological data indicating decreased gray matter and hypoactivation in parietal areas in WS, as these areas are implicated in mathematical processing as well as visuospatial abilities and visual attention. In spite of their deficits in core mathematical representations, people with WS can learn many mathematical skills and show some strengths, such as reading numbers. Thus individuals with WS may be able to take advantage of their relatively strong verbal skills when learning some mathematical tasks. The uneven mathematical abilities found in persons with WS provide insight into not only appropriate remediation for this developmental disorder but also into the precursors of mathematical ability, their neural substrates, and their developmental importance. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:11,20. [source]

Language phenotypes and intervention planning: Bridging research and practice

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2007
Deborah J. Fidler
Abstract This paper focuses on the communication and language phenotypes associated with three genetic disorders: Down syndrome, Williams syndrome, and fragile X syndrome. It is argued that there is empirical evidence that these disorders predispose children to specific profiles of strength and weakness in some areas of speech, language, and communication, and that intervention planning for children with each syndrome may take an approach informed by these profiles. Issues related to within-group variability, shared outcomes among syndromes, and the need for empirical validation for syndrome-specific recommendations are discussed. © 2007 Wiley-Liss, Inc. MRDD Research Reviews 2007; 13:47,57. [source]

Reduced parietal and visual cortical activation during global processing in Williams syndrome

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2007
Dean Mobbs BSc
Several lines of investigation suggest that individuals with Williams syndrome (WS), a neurodevelopmental disorder of well-characterized genetic etiology, have selective impairments in integrating local image elements into global configurations. We compared global processing abilities in 10 clinically and genetically diagnosed participants with WS (eight females, two males; mean age 31y 10mo [SD 9y 7mo], range 15y 5mo-48y 4mo) with a typically developed (TD) age- and sex-matched comparison group (seven females, one male; mean age 35y 2mo [SD 10y 10mo], range 24y-54y 7mo) using functional magnetic resonance imaging (fMRI). Behavioral data showed participants with WS to be significantly less accurate (p<0.042) together with a non-significant trend to be slower than the TD comparison group while performing the global processing task. fMRI data showed participants with WS to possess reduced activation in the visual and parietal cortices. Participants with WS also showed relatively normal activation in the ventral occipitotemporal cortex, but elevated activation in several posterior thalamic nuclei. These preliminary results largely confirm previous research findings and neural models implicating neurodevelopmental abnormalities in extended subcortical and cortical visual systems in WS, most notably dorsal-stream pathways. [source]

Increased gyrification in Williams syndrome: evidence using 3D MRI methods

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2002
J Eric Schmitt BABS
Understanding patterns of gyrification in neurogenetic disorders helps to uncover the neurodevelopmental etiology underlying behavioral phenotypes. This is particularly true in Williams syndrome (WS), a condition caused by de novo deletion of approximately 1 to 2Mb in the 7q11.23 region. Individuals with WS characteristically possess an unusual dissociation between deficits in visual-spatial ability and relative preservations in language, music, and social drive. A preliminary postmortem study reported anomalous gyri and sulci in individuals with WS. The present study examined gyrification patterns in 17 participants with WS (10 females, 7 males; mean age 28 years 11 months, SD 8 years 6 months) and 17 age- and sex-matched typically developing control participants (mean age 29 years 1 month, SD 8 years 1 month) using new automated techniques in MRI. Significantly increased cortical gyrification was found globally with abnormalities being more marked in the right parietal (p=0.0227), right occipital (p=0.0249), and left frontal (p=0.0086) regions. These results suggest that one or more genes in the 7q11.23 region are involved during the critical period when cortical folding occurs, and may be related to the hypothesized dorsal/ventral dissociation in this condition. [source]

Developmental profiles for multiple object tracking and spatial memory: typically developing preschoolers and people with Williams syndrome

DEVELOPMENTAL SCIENCE, Issue 3 2010
Kirsten O'Hearn
The ability to track moving objects, a crucial skill for mature performance on everyday spatial tasks, has been hypothesized to require a specialized mechanism that may be available in infancy (i.e. indexes). Consistent with the idea of specialization, our previous work showed that object tracking was more impaired than a matched spatial memory task in individuals with Williams syndrome (WS), a genetic disorder characterized by severe visuo-spatial impairment. We now ask whether this unusual pattern of performance is a reflection of general immaturity or of true abnormality, possibly reflecting the atypical brain development in WS. To examine these two possibilities, we tested typically developing 3- and 4-year-olds and people with WS on multiple object tracking (MOT) and memory for static spatial location. The maximum number of objects that could be correctly tracked or remembered (estimated from the k -statistic) showed similar developmental profiles in typically developing 3- and 4-year-old children, but the WS profile differed from either age group. People with WS could track more objects than 3-year-olds, and the same number as 4-year-olds, but they could remember the locations of more static objects than both 3- and 4-year-olds. Combining these data with those from our previous studies, we found that typically developing children show increases in the number of objects they can track or remember between the ages of 3 and 6, and these increases grow in parallel across the two tasks. In contrast, object tracking in older children and adults with WS remains at the level of 4-year-olds, whereas the ability to remember multiple locations of static objects develops further. As a whole, the evidence suggests that MOT and memory for static location develop in tandem typically, but not in WS. Atypical development of the parietal lobe in people with WS could play a causal role in the abnormal, uneven pattern of performance in WS. This interpretation is consistent with the idea that multiple object tracking engages different mechanisms from those involved in memory for static object location, and that the former can be particularly disrupted by atypical development. [source]

Small and large number processing in infants and toddlers with Williams syndrome

DEVELOPMENTAL SCIENCE, Issue 5 2008
Jo Van Herwegen
Previous studies have suggested that typically developing 6-month-old infants are able to discriminate between small and large numerosities. However, discrimination between small numerosities in young infants is only possible when variables continuous with number (e.g. area or circumference) are confounded. In contrast, large number discrimination is successful even when variables continuous with number are systematically controlled for. These findings suggest the existence of different systems underlying small and large number processing in infancy. How do these develop in atypical syndromes? Williams syndrome (WS) is a rare neurocognitive developmental disorder in which numerical cognition has been found to be impaired in older children and adults. Do impairments of number processing have their origins in infancy? Here this question is investigated by testing the small and large number discrimination abilities of infants and toddlers with WS. While infants with WS were able to discriminate between 2 and 3 elements when total area was confounded with numerosity, the same infants did not discriminate between 8 and 16 elements, when number was not confounded with continuous variables. These findings suggest that a system for tracking the features of small numbers of object (object-file representation) may be functional in WS, while large number discrimination is impaired from an early age onwards. Finally, we argue that individual differences in large number processing in infancy are more likely than small number processing to be predictive of later development of numerical cognition. [source]

Visual search in typically developing toddlers and toddlers with Fragile X or Williams syndrome

DEVELOPMENTAL SCIENCE, Issue 1 2004
Gaia Scerif
Visual selective attention is the ability to attend to relevant visual information and ignore irrelevant stimuli. Little is known about its typical and atypical development in early childhood. Experiment 1 investigates typically developing toddlers' visual search for multiple targets on a touch-screen. Time to hit a target, distance between successively touched items, accuracy and error types revealed changes in 2- and 3-year-olds' vulnerability to manipulations of the search display. Experiment 2 examined search performance by toddlers with Fragile X syndrome (FXS) or Williams syndrome (WS). Both of these groups produced equivalent mean time and distance per touch as typically developing toddlers matched by chronological or mental age; but both produced a larger number of errors. Toddlers with WS confused distractors with targets more than the other groups; while toddlers with FXS perseverated on previously found targets. These findings provide information on how visual search typically develops in toddlers, and reveal distinct search deficits for atypically developing toddlers. [source]

Multiple causality in developmental disorders: methodological implications from computational modelling

DEVELOPMENTAL SCIENCE, Issue 5 2003
Michael S.C. Thomas
When developmental disorders are defined on the basis of behavioural impairments alone, there is a risk that individuals with different underlying cognitive deficits will be grouped together on the basis that they happen to share a certain impairment. This phenomenon is labelled multiple causality. In contrast, a developmental disorder generated by a single underlying cognitive deficit may nevertheless show variable patterns of impairments due to individual differences. Connectionist computational models of development are used to investigate whether there may be ways to distinguish disorder groups with a single underlying cause (homogeneous disorder groups) from disorder groups with multiple underlying causes (heterogeneous disorder groups) on the basis of behavioural measures alone. A heuristic is proposed to assess the underlying causal homogeneity of the disorder group based on the variability of different behavioural measures from the target domain. Heterogeneous disorder groups are likely to show smaller variability on the measure used to define the disorder than on subsequent behavioural measures, while homogeneous groups should show approximately equivalent variability. Homogeneous disorder groups should show reductions in the variability of behavioural measures over time, while heterogeneous groups may not. It is demonstrated how these predictions arise from computational assumptions, and their use is illustrated with reference to behavioural data on naming skills from two developmental disorder groups, Williams syndrome and children with Word Finding Difficulties. [source]

Cognitive, Linguistic and Adaptive Functioning in Williams Syndrome: Trajectories from Early to Middle Adulthood

Neuropsychological components of intellectual disability: the contributions of immediate, working, and associative memory

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 5 2010
Jamie O. Edgin
Abstract Background Efficient memory functions are important to the development of cognitive and functional skills, allowing individuals to manipulate and store information. Theories of memory have suggested the presence of domain-specific (i.e. verbal and spatial) and general processing mechanisms across memory domains, including memory functions dependent on the prefrontal cortex (PFC) and the hippocampus. Comparison of individuals who have syndromes associated with striking contrasts in skills on verbal and spatial tasks [e.g. Down syndrome (DS) and Williams syndrome (WS)] allows us to test whether or not these dissociations may extend across cognitive domains, including PFC and hippocampal memory processes. Methods The profile of memory function, including immediate memory (IM), working memory (WM) and associative memory (AM), was examined in a sample of adolescents and young adults with DS (n = 27) or WS (n = 28), from which closely CA- and IQ-matched samples of individuals with DS (n = 18) or WS (n = 18) were generated. Relations between memory functions and IQ and adaptive behaviour were also assessed in the larger sample. Results Comparisons of the two matched groups indicated significant differences in verbal IM (DS < WS), spatial IM (DS > WS) and spatial and verbal AM (DS > WS), but no between-syndrome differences in WM. For individuals with DS, verbal IM was the most related to variation in IQ, and spatial AM related to adaptive behaviour. The pattern was clearly different for individuals with WS. Verbal and spatial AM were the most related to variation in IQ, and verbal WM related to adaptive behaviour. Conclusions These results suggest that individuals with these two syndromes have very different patterns of relative strengths and weaknesses on memory measures, which do not fully mirror verbal and spatial dissociations. Furthermore, different patterns of memory dysfunction relate to outcome in individuals with each syndrome. [source]

Executive functions in individuals with Williams syndrome

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 5 2010
D. Menghini
Abstract Background The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. Method In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning, categorisation, shifting and inhibition abilities was administered to 15 individuals with WS (mean chronological age of 19.11 and mean mental age of 6.10), and to a group of 15 TD children (mean chronological age of 7.6 and mean mental age of 6.9). Results Participants with WS showed deficits in both verbal and visual-spatial modalities for selective and sustained attention, short-term memory and WM, planning and inhibition. However, considering categorisation and shifting abilities, relatively unimpaired performance emerged on those tasks relying on verbal materials. Conclusions These findings are both relevant to improve our knowledge about certain qualitative aspects of the anomalous cognitive development in WS as well as for its eventual clinical implications. [source]

Social approach in pre-school children with Williams syndrome: the role of the face

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 3 2010
H. F. Dodd
Abstract Background Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype. The present study examines approach behaviour in pre-schoolers with WS and evaluates the role of the face in WS social approach behaviour. Method Ten pre-schoolers with WS (aged 3,6 years) and two groups of typically developing children, matched to the WS group on chronological or mental age, participated in an observed play session. The play session incorporated social and non-social components including two components that assessed approach behaviour towards strangers; one in which the stranger's face could be seen and one in which the stranger's face was covered. Results In response to the non-social aspects of the play session, the WS group behaved similarly to both control groups. In contrast, the pre-schoolers with WS were significantly more willing than either control group to engage with a stranger, even when the stranger's face could not be seen. Conclusion The findings challenge the hypothesis that an unusual attraction to the face directly motivates social approach behaviour in individuals with WS. [source]

Implicit memory is independent from IQ and age but not from etiology: evidence from Down and Williams syndromes

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 12 2007
S. Vicari
Abstract Background In the last few years, experimental data have been reported on differences in implicit memory processes of genetically distinct groups of individuals with Intellectual Disability (ID). These evidences are relevant for the more general debate on supposed asynchrony of cognitive maturation in children with abnormal brain development. This study, comparing implicit memory processes in individuals with Williams syndrome (WS) and Down syndrome (DS), was planned to verify the ,etiological specificity' hypotheses pertaining to the skill learning abilities of individuals with ID. Method A modified version of Nissen and Bullemer's (1987) Serial Reaction Time (SRT) task was used. The performances of three group were evaluated. The first group consisted of thirty-two people with WS (18 males and 14 females). The second group was comprised of twenty-six individuals with DS (14 males and 12 females). The two groups of individuals with ID were selected so that the groups were comparable as for mental age and chronological age. The third group consisted of forty-nine typically developed children with a mental age similar to that of the groups with WS and DS. Results The two groups of individuals with ID demonstrated different patterns of procedural learning. WS individuals revealed poor implicit learning of the temporal sequence of events characterizing the ordered blocks in the SRT task. Indeed, differently from normal controls, WS participants showed no reaction time (RT) speeding through ordered blocks. Most importantly, the rebound effect, which so dramatically affected normal children's RTs passing from the last ordered to the last block, had only a marginal influence on WS children's RTs. Differently from the WS group, the rate of procedural learning of the participants with DS was comparable to that of their controls. Indeed, DS and typically developed individuals showed parallel RT variations in the series of ordered blocks and, more importantly, passing from the last ordered to the last block. Therefore, a substantial preservation of skill learning abilities in this genetic syndrome is confirmed. Conclusions The results of the present study document that procedural learning in individuals with ID depends on the aetiology of the syndrome, thus supporting the etiological specificity account of their cognitive development. These results are relevant for our knowledge about the qualitative aspects and the underlying neurobiological substrate of the anomalous cognitive development in mentally retarded people. [source]

Animal models of Williams syndrome,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Lucy R. Osborne
Abstract In recent years, researchers have generated a variety of mouse models in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS). The mouse genome is easily manipulated to produce animals that are copies of humans with genetic conditions, be it with null mutations, hypomorphic mutations, point mutations, or even large deletions encompassing many genes. The existing mouse models certainly seem to implicate hemizygosity for ELN, BAZ1B, CLIP2, and GTF2IRD1 in WS, and new mice with large deletions of the WS region are helping us to understand both the additive and potential combinatorial effects of hemizygosity for specific genes. However, not all genes that are haploinsufficient in humans prove to be so in mice and the effect of genetic background can also have a significant effect on the penetrance of many phenotypes. Thus although mouse models are powerful tools, the information garnered from their study must be carefully interpreted. Nevertheless, mouse models look set to provide a wealth of information about the neuroanatomy, neurophysiology and molecular pathways that underlie WS and in the future will act as essential tools for the development and testing of therapeutics. © 2010 Wiley-Liss, Inc. [source]

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Holly H. Hobart
Abstract Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55,Mb of DNA (including 26 genes) on chromosome 7q11.23, a region predisposed to recombination due to its genomic structure. Deletion of the Williams syndrome chromosome region (WSCR) occurs sporadically. To better define chance for familial recurrence and to investigate the prevalence of genomic rearrangements of the region, 257 children with WS and their parents were studied. We determined deletion size in probands by metaphase FISH, parent-of-origin of the deleted chromosome by molecular genetic methods, and inversion status of the WSCR in both parents by interphase FISH. The frequency of WSCR inversion in the transmitting parent group was 24.9%. In contrast, the rate of inversion in the non-transmitting parent group (a reasonable estimate of the rate in the general population) was 5.8%. There were no significant gender differences with respect to parent-of-origin for the deleted chromosome or the incidence of the inversion polymorphism. There was no difference in the rate of spontaneous abortion for mothers heterozygous for the WSCR inversion relative to mothers without the inversion. We calculate that for a parent heterozygous for a WSCR inversion, the chance to have a child with WS is about 1 in 1,750, in contrast to the 1 in 9,500 chance for a parent without an inversion. © 2010 Wiley-Liss, Inc. [source]

Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Carolyn B. Mervis
Abstract Portrayals of individuals with Williams syndrome (WS), a genetic disorder caused by a microdeletion of ,25 genes on chromosome 7q11.23, have reached the general public through a variety of media formats. These descriptions are often paradoxical in nature with individuals with WS repeatedly described as demonstrating near-normal language despite the presence of significant intellectual disability and as being extremely sociable and friendly in spite of their seemingly limited understanding of basic social norms. While this depiction of WS served to attract the interest of basic-science researchers, the results of subsequent studies have provided a more nuanced view. For example, rather than across-the-board "near-normal" language, children with WS demonstrate relative strengths in concrete vocabulary and verbal short-term memory, grammatical abilities at the level expected for general intellectual ability, and considerable weakness in relational/conceptual language and pragmatics (social use of language). To provide a more thorough characterization of the WS behavioral phenotype, we summarize recent findings related to intellectual ability, language development, memory development, executive function development, adaptive behavior skills, and behavior as it relates to learning by children with WS. Finally, we briefly discuss intervention approaches that may help children with WS to achieve their full potential. © 2010 Wiley-Liss, Inc. [source]

Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Jeffrey A. Marler
Abstract Hearing loss is common in school-age individuals with Williams syndrome (WS) and extensive in adults. Prior studies with relatively small sample sizes suggest that hearing loss in WS has an early onset and may be progressive, yet the auditory phenotype and the scope of the hearing loss have not been adequately characterized. We used standard audiometric tools: Otoscopy, tympanometry, air-conduction (bone conduction when available) behavioral testing, and distortion product otoacoustic emissions (DPOAEs) to measure hearing sensitivity and outer hair cell function. We tested 81 individuals with WS aged 5.33,59.50 years. Sixty-three percent of the school-age and 92% of the adult participants had mild to moderately-severe hearing loss. The hearing loss in at least 50% was sensorineural. DPOAE testing corroborated behavioral results. Strikingly, 12 of 14 participants with hearing within normal limits bilaterally had 4,000-Hz DPOAE input/output (DPOAE IO) functions indicative of outer hair cell damage and impaired cochlear compression. Our results indicate that hearing loss is very common in WS. Furthermore, individuals with WS who have "normal" hearing as defined by behavioral thresholds may actually have sub-clinical impairments or undetected cochlear pathology. Our findings suggest outer hair cell dysfunction in otherwise normal hearing individuals. The DPOAE IO in this same group revealed growth functions typically seen in groups with noise-induced damage. Given this pattern of findings, individuals with WS may be at increased risk of noise-induced hearing loss. Recommendations regarding audiological testing for individuals with WS and accommodations for these individuals in both academic and nonacademic settings are provided. © 2010 Wiley-Liss, Inc. [source]

Sensory modulation impairments in children with Williams syndrome,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Angela E. John
Abstract The ability to organize information detected by our senses ("sensory modulation") allows us to act or respond effectively to situations encountered, facilitating learning, social behavior, and day-to-day functioning. We hypothesized that children with Williams syndrome (WS) would demonstrate symptoms of poor sensory modulation and that these sensory modulation abnormalities contribute to the phenotype. Participants were 78 children with WS aged 4.00,10.95 years. Based on parent ratings on the Short Sensory Profile [SSP; Dunn, 1999], most children were classified as having definite sensory modulation issues. Cluster analysis identified the presence of two clusters varying in level of sensory modulation impairment. Children in the high impairment group demonstrated poorer adaptive functioning, executive functioning, more problem behaviors, and more difficult temperaments than children in the low impairment group. © 2010 Wiley-Liss, Inc. [source]

Longitudinal course of anxiety in children and adolescents with Williams syndrome,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Janet Woodruff-Borden
Abstract The longitudinal course of anxiety disorders in 45 children and adolescents with Williams syndrome (WS) was examined. Children were ages 4,13 years at the initial assessment. To assess their child's DSM-IV diagnoses, parents completed a structured diagnostic interview 3,9 times at intervals of at least 1 year. At the first assessment, 60% of the sample presented with at least one anxiety diagnosis; 82.2% received an anxiety diagnosis at some time during the study. Chronic, persistent anxiety within the period 5 years after their initial diagnosis was shown by 62.2% of those with an anxiety diagnosis (51.1% of the entire sample). The most common diagnoses were specific phobias and generalized anxiety disorder. Multilevel logistic regression models were estimated for the presence of any anxiety disorder, specific phobia, and specific phobia of loud noises. Developmental trajectories, expressed as the probability of a positive diagnosis, suggested that the odds of a positive diagnosis did not change with age. IQ was not significantly related to the presence of an anxiety disorder. However, there was a significant relation between executive functioning and anxiety such that the presence of an anxiety diagnosis was associated with increased scores on behavioral regulation, indicative of increased difficulty with inhibitory control of affect and behavior. These findings are discussed in terms of persistence of anxiety over time and the need to develop and test interventions to address the high levels of anxiety experienced by children and adolescents with WS. © 2010 Wiley-Liss, Inc. [source]

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
B.R. Pober
Abstract A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal glucose curves, meeting diagnostic criteria for either diabetes or the pre-diabetic state of impaired glucose tolerance. Fasting mean glucose and median insulin levels did not differ significantly in the total WS cohort versus age,gender,BMI matched controls, though the glucose area under the curve was greater in the WS subjects. HbA1c levels were not as reliable as the OGTT in diagnosing the presence of diabetes. Given the high prevalence of impaired glucose regulation, adults with WS should be screened for diabetes, and when present should be treated in accordance with standard medical practice. Hemizygosity for a gene mapping to the Williams syndrome chromosome region (WSCR) is likely the major factor responsible for the high frequency of diabetes in WS. Syntaxin-1A is a prime candidate gene based on its location in the WSCR, its role in insulin release, and the presence of abnormal glucose metabolism in mouse models with aberrantly expressed Stx-1a. © 2010 Wiley-Liss, Inc. [source]

Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Colleen A. Morris
Abstract Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype. We examined a cohort of 205 individuals with WS for mutations in SERPINA1, the gene that encodes alpha-1-antitrypsin (AAT), the inhibitor of elastase. Individuals with classic WS deletions and SERPINA1 genotypes PiMS or PiMZ were more likely than those with a SERPINA1 PiMM genotype to have joint dislocation or scoliosis. However, carrier status for AAT deficiency was not correlated with presence of inguinal hernia or with presence or severity of SVAS. These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS. © 2010 Wiley-Liss, Inc. [source]

Genetic counseling of adults with Williams syndrome: A first study,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2010
Katrina Farwig
Abstract We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants' attitudes toward socio-cultural topics. Forty-nine percent indicated that they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated that they did not plan to have children. During the post-counseling session participants were questioned to determine if they recalled the facts previously presented. Eighty-one percent correctly gave the odds that their child would have WS. Fifty-three percent considered the 50,50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught and 88% indicated that they would want to test their baby for WS before birth. Ninety-eight percent would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS,a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory,are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions. © 2010 Wiley-Liss, Inc. [source]

Emanuel Miller Lecture: Attachment insecurity, disinhibited attachment, and attachment disorders: where do research findings leave the concepts?

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 5 2009
Michael Rutter
Background:, Despite the evidence on anomalous attachment patterns, there has been a tendency to interpret most of these as reflecting differences in security/insecurity. Methods:, Empirical research findings are reviewed in relation to attachment/insecurity as evident in both infancy and later childhood, disorganised attachment, inhibited attachment disorder, and disinhibited attachment disorder. Findings:, Substantial differences are found in the correlates and meaning of these different features, as well as in the patterns associated with conditions such as autism, psychopathy, and Williams syndrome. Conclusions:, It is seriously misleading to view all of these patterns through the lens of security/insecurity. This heterogeneity in social relationship features necessarily has implications for the assessment measures for social relationships that need to be used. [source]

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 6 2008
Marilee A. Martens
This review critically examines the research findings which characterize the cognitive, behavioral, and neuroanatomical features of Williams syndrome (WS). This article analyzes 178 published studies in the WS literature covering the following areas: 1) General intelligence, 2) Language skills, 3) Visuospatial and face processing skills, 4) Behavior patterns and hypersociability, 5) Musical abilities, and 6) Brain structure and function. We identify methodological issues relating to small sample size, use and type of control groups, and multiple measures of task performance. Previously described ,peaks' within the cognitive profile are closely examined to assess their veracity. This review highlights the need for methodologically sound studies that utilize multiple comparison groups, developmental trajectories, and longitudinal analyses to examine the WS phenotype, as well as those that link brain structure and function to the cognitive and behavioral phenotype of WS individuals. [source]

Practitioner Review: Short-term and working memory impairments in neurodevelopmental disorders: diagnosis and remedial support

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 1 2006
Susan E. Gathercole
Background:, This article provides an introduction to current models of working and short-term memory, their links with learning, and diagnosis of impairments. The memory impairments associated with a range of neurodevelopmental disorders (Down's syndrome, Williams syndrome, Specific Language Impairment, and attentional deficits) are discussed. Methods:, Methods of alleviating the adverse consequences of working and short-term memory impairments for learning are identified. Conclusion:, Impairments of short-term and working memory are associated with learning difficulties that can be substantial, and that can be minimised by appropriate methods of remedial support. [source]

Block Design Performance in the Williams Syndrome Phenotype: A Problem with Mental Imagery?

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 6 2001
Emily K. Farran
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. [source]

Two pregnancies in a woman with Williams syndrome

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 5 2004
Varsha V. Mulik
No abstract is available for this article. [source]