williams syndrome

Summary

Summary: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Top Publications

  1. Haas B, Mills D, Yam A, Hoeft F, Bellugi U, Reiss A. Genetic influences on sociability: heightened amygdala reactivity and event-related responses to positive social stimuli in Williams syndrome. J Neurosci. 2009;29:1132-9 pubmed publisher
    b>Williams syndrome (WS) is a genetic disorder caused by a hemizygous microdeletion on chromosome 7q11.23...
  2. Blyth M, Beal S, Huang S, Crolla J, Foulds N. A novel 2.43 Mb deletion of 7q11.22-q11.23. Am J Med Genet A. 2008;146A:3206-10 pubmed publisher
    ..analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in ..
  3. Cohen J, Mock J, Nichols T, Zadina J, Corey D, Lemen L, et al. Morphometry of human insular cortex and insular volume reduction in Williams syndrome. J Psychiatr Res. 2010;44:81-9 pubmed publisher
    ..human insular cortex, and to validate that method by examining the anatomy of insular cortex in adults with Williams syndrome (WS) and healthy age-matched controls...
  4. Munoz K, Meyer Lindenberg A, Hariri A, Mervis C, Mattay V, Morris C, et al. Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content. Neuroimage. 2010;50:340-6 pubmed publisher
    b>Williams syndrome (WS) is a rare genetic disorder caused by the deletion of approximately 25 genes on chromosome 7q11...
  5. Perez Garcia D, Granero R, Gallastegui F, Perez Jurado L, Brun Gasca C. Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. Res Dev Disabil. 2011;32:643-52 pubmed publisher
    ..Some associations between IQ and anxiety items were found. The findings are discussed in terms of behavioral phenotypes, genetic implications and ID. ..
  6. van Hagen J, Eussen H, van Schooten R, van der Geest J, Lagers van Haselen G, Wouters C, et al. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. Genet Test. 2007;11:321-7 pubmed
    Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion...
  7. Smith A, Gilchrist I, Hood B, Tassabehji M, Karmiloff Smith A. Inefficient search of large-scale space in Williams syndrome: further insights on the role of LIMK1 deletion in deficits of spatial cognition. Perception. 2009;38:694-701 pubmed
    b>Williams syndrome (WS) is a genetic disorder associated with impairments of spatial cognition. This has primarily been studied in small-scale space, and rarely in large-scale environments...
  8. Turner D, Miretti M, Rajan D, Fiegler H, Carter N, Blayney M, et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet. 2008;40:90-5 pubmed
  9. Haas B, Hoeft F, Barnea Goraly N, Golarai G, Bellugi U, Reiss A. Preliminary evidence of abnormal white matter related to the fusiform gyrus in Williams syndrome: a diffusion tensor imaging tractography study. Genes Brain Behav. 2012;11:62-8 pubmed publisher
    b>Williams syndrome (WS) is a genetic condition caused by a hemizygous microdeletion on chromosome 7q11.23...

More Information

Publications88

  1. Klein Tasman B, Phillips K, Lord C, Mervis C, Gallo F. Overlap with the autism spectrum in young children with Williams syndrome. J Dev Behav Pediatr. 2009;30:289-99 pubmed publisher
    The sociocommunicative abnormalities of young children with Williams syndrome (WS) with limited language were compared with those of children with clinical diagnoses of autism, Pervasive Developmental Disorder-Not Otherwise Specified (..
  2. Bodizs R, Gombos F, Kovacs I. Sleep EEG fingerprints reveal accelerated thalamocortical oscillatory dynamics in Williams syndrome. Res Dev Disabil. 2012;33:153-64 pubmed publisher
    ..developmental disabilities, but detailed quantitative EEG data on the sleep phenotype of patients with Williams syndrome (WS, 7q11.23 microdeletion) is still lacking...
  3. Riby D, Jones N, Brown P, Robinson L, Langton S, Bruce V, et al. Attention to faces in Williams syndrome. J Autism Dev Disord. 2011;41:1228-39 pubmed publisher
    b>Williams syndrome (WS) is associated with distinct social behaviours. One component of the WS social phenotype is atypically prolonged face fixation. This behaviour co-exists with attention difficulties...
  4. Morris C, Pani A, Mervis C, Rios C, Kistler D, Gregg R. Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:299-306 pubmed publisher
    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 ..
  5. Schneider T, Skitt Z, Liu Y, Deacon R, Flint J, Karmiloff Smith A, et al. Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome. Behav Brain Res. 2012;233:458-73 pubmed publisher
    ..Our study strongly supports a role for GTF2IRD1 in the motoric and anxiety-related abnormalities seen in Williams-Beuren syndrome, and suggests basal ganglia and potentially cerebellar abnormalities in Gtf2ird1 mice. ..
  6. Vicari S, Verucci L, Carlesimo G. Implicit memory is independent from IQ and age but not from etiology: evidence from Down and Williams syndromes. J Intellect Disabil Res. 2007;51:932-41 pubmed
    ..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 ..
  7. Järvinen Pasley A, Bellugi U, Reilly J, Mills D, Galaburda A, Reiss A, et al. Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior. Dev Psychopathol. 2008;20:1-35 pubmed publisher
    ..Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene-brain-behavior relationships...
  8. Sbruzzi I, Pereira A, Vasconcelos B, Honjo R, Krieger J, Kim C. Williams-Beuren syndrome: diagnosis by polymorphic markers. Genet Test Mol Biomarkers. 2010;14:209-14 pubmed publisher
    ..006 and p = 0.02, respectively). Polymorphic markers might be a good alternative for the molecular diagnosis of WBS in centers where fluorescence in situ hybridization analysis is not available. ..
  9. Ferrero G, Howald C, Micale L, Biamino E, Augello B, Fusco C, et al. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet. 2010;18:33-8 pubmed publisher
    ..Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients. ..
  10. Merla G, Brunetti Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. 2010;128:3-26 pubmed publisher
    ..23 CNV phenotypes. Here, we review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region. ..
  11. Sanders S, Ercan Sencicek A, Hus V, Luo R, Murtha M, Moreno De Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011;70:863-85 pubmed publisher
    ..4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1. ..
  12. Järvinen Pasley A, Pollak S, Yam A, Hill K, Grichanik M, Mills D, et al. Atypical hemispheric asymmetry in the perception of negative human vocalizations in individuals with Williams syndrome. Neuropsychologia. 2010;48:1047-52 pubmed publisher
    b>Williams syndrome is a neurological condition associated with high levels of auditory reactivity and emotional expression combined with impaired perception of prosody...
  13. Martens M, Wilson S, Reutens D. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008;49:576-608 pubmed publisher
    ..examines the research findings which characterize the cognitive, behavioral, and neuroanatomical features of Williams syndrome (WS)...
  14. Fung L, Quintin E, Haas B, Reiss A. Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome. Curr Opin Neurol. 2012;25:112-24 pubmed publisher
    ..of this review is to compare and contrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review the putative neural and molecular underpinnings of these features...
  15. Sparaci L, Stefanini S, Marotta L, Vicari S, Rizzolatti G. Understanding motor acts and motor intentions in Williams syndrome. Neuropsychologia. 2012;50:1639-49 pubmed publisher
    b>Williams syndrome (WS) is a rare genetic disorder associated with unusually hyper-social demeanor and ease with strangers...
  16. Marenco S, Siuta M, Kippenhan J, Grodofsky S, Chang W, Kohn P, et al. Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome. Proc Natl Acad Sci U S A. 2007;104:15117-22 pubmed
    ..The hemideletion of approximately 25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and ..
  17. Gao M, Bellugi U, Dai L, Mills D, Sobel E, Lange K, et al. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. PLoS ONE. 2010;5:e10292 pubmed publisher
    ..the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23...
  18. Zarchi O, Attias J, Gothelf D. Auditory and visual processing in Williams syndrome. Isr J Psychiatry Relat Sci. 2010;47:125-31 pubmed
    b>Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7...
  19. Porter M, Coltheart M, Langdon R. Theory of mind in Williams syndrome assessed using a nonverbal task. J Autism Dev Disord. 2008;38:806-14 pubmed
    This study examined Theory of Mind in Williams syndrome (WS) and in normal chronological age-matched and mental age-matched control groups, using a picture sequencing task...
  20. Sampaio A, Sousa N, Férnandez M, Vasconcelos C, Shenton M, Gonçalves Ó. MRI assessment of superior temporal gyrus in Williams syndrome. Cogn Behav Neurol. 2008;21:150-6 pubmed publisher
    ..volumes and asymmetry of superior temporal gyrus (STG) and correlate these measures with a neurocognitive evaluation of verbal performance in Williams syndrome (WS) and in a typically developing age-matched and sex-matched group.
  21. Riby D, Hancock P. Looking at movies and cartoons: eye-tracking evidence from Williams syndrome and autism. J Intellect Disabil Res. 2009;53:169-81 pubmed publisher
    Autism and Williams syndrome (WS) are neuro-developmental disorders associated with distinct social phenotypes...
  22. Krajcsi A, Lukacs A, Igács J, Racsmany M, Pléh C. Numerical abilities in Williams syndrome: dissociating the analogue magnitude system and verbal retrieval. J Clin Exp Neuropsychol. 2009;31:439-46 pubmed publisher
    Two numerical systems--the analogue magnitude system and verbal retrieval--were investigated in Williams syndrome (WS) with three numerical tasks: simple addition, simple multiplication, and number comparison...
  23. Foti F, Petrosini L, Cutuli D, Menghini D, Chiarotti F, Vicari S, et al. Explorative function in Williams syndrome analyzed through a large-scale task with multiple rewards. Res Dev Disabil. 2011;32:972-85 pubmed publisher
    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...
  24. Papaeliou C, Fryssira H, Kodakos A, Kaila M, Benaveli E, Michaelides K, et al. Nonverbal communication, play, and language in Greek young children with Williams syndrome. Child Neuropsychol. 2011;17:225-41 pubmed publisher
    ..study investigated nonverbal communicative abilities, functional play, and symbolic play in 11 toddlers with Williams syndrome (WS) during spontaneous communication...
  25. Isaac L, Lincoln A. Featural versus configural face processing in a rare genetic disorder: Williams syndrome. J Intellect Disabil Res. 2011;55:1034-42 pubmed publisher
    b>Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births...
  26. Rhodes S, Riby D, Matthews K, Coghill D. Attention-deficit/hyperactivity disorder and Williams syndrome: shared behavioral and neuropsychological profiles. J Clin Exp Neuropsychol. 2011;33:147-56 pubmed publisher
    We compared verbally matched attention-deficit/hyperactivity disorder (ADHD), Williams syndrome (WS), and typically developing individuals (N = 19 each group) on behavioral symptoms (Conners ADHD rating scale) and neuropsychological ..
  27. Levy Y, Pluber H, Bentin S. Covert processing of facial expressions by people with Williams syndrome. Cortex. 2011;47:23-34 pubmed publisher
    Although individuals with Williams Syndrome (WS) are empathic and sociable and perform relatively well on face recognition tasks, they perform poorly on tasks of facial expression recognition...
  28. Mervis C, John A. Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches. Am J Med Genet C Semin Med Genet. 2010;154C:229-48 pubmed publisher
    Portrayals of individuals with Williams syndrome (WS), a genetic disorder caused by a microdeletion of approximately 25 genes on chromosome 7q11.23, have reached the general public through a variety of media formats...
  29. Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci. 2009;66:1178-97 pubmed publisher
    ..This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects...
  30. O HEARN K, Roth J, Courtney S, Luna B, Street W, Terwillinger R, et al. Object recognition in Williams syndrome: uneven ventral stream activation. Dev Sci. 2011;14:549-65 pubmed publisher
    b>Williams syndrome (WS) is a genetic disorder associated with severe visuospatial deficits, relatively strong language skills, heightened social interest, and increased attention to faces...
  31. Gothelf D, Searcy Y, Reilly J, Lai P, Lanre Amos T, Mills D, et al. Association between cerebral shape and social use of language in Williams syndrome. Am J Med Genet A. 2008;146A:2753-61 pubmed publisher
    b>Williams syndrome (WS) is a neurogenetic disorder resulting from a hemizygous microdeletion at band 7q11.23. It is characterized by aberrant development of the brain and a unique profile of cognitive and behavioral features...
  32. Tager Flusberg H, Skwerer D, Joseph R. Model syndromes for investigating social cognitive and affective neuroscience: a comparison of Autism and Williams syndrome. Soc Cogn Affect Neurosci. 2006;1:175-82 pubmed publisher
    Autism and Williams syndrome are genetically based neurodevelopmental disorders that present strikingly different social phenotypes...
  33. PLESA SKWERER D, Borum L, Verbalis A, Schofield C, Crawford N, Ciciolla L, et al. Autonomic responses to dynamic displays of facial expressions in adolescents and adults with Williams syndrome. Soc Cogn Affect Neurosci. 2009;4:93-100 pubmed publisher
    The behavioral phenotype characteristic of Williams syndrome (WS) is marked by strong interest in social interaction, manifested in attention to human faces, empathy, approach behavior and social disinhibition, often coexisting with ..
  34. Pober B. Williams-Beuren syndrome. N Engl J Med. 2010;362:239-52 pubmed publisher
  35. Meda S, Pryweller J, Thornton Wells T. Regional brain differences in cortical thickness, surface area and subcortical volume in individuals with Williams syndrome. PLoS ONE. 2012;7:e31913 pubmed publisher
    b>Williams syndrome (WS) is a rare genetic neurodevelopmental disorder characterized by increased non-social anxiety, sensitivity to sounds and hypersociability...
  36. Goergen C, Li H, Francke U, Taylor C. Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. J Vasc Res. 2011;48:119-29 pubmed publisher
    ..5-Mb deletion. The aim of this study was to determine how the genetic changes in a Wbs mouse model alter Eln expression, blood pressure, vessel structure, and abdominal aortic wall dynamics in vivo...
  37. Menghini D, Di Paola M, Federico F, Vicari S, Petrosini L, Caltagirone C, et al. Relationship between brain abnormalities and cognitive profile in Williams syndrome. Behav Genet. 2011;41:394-402 pubmed publisher
    Previous studies have shown inconsistent results when reporting brain abnormalities in Williams syndrome (WS)...
  38. Thornton Wells T, Cannistraci C, Anderson A, Kim C, Eapen M, Gore J, et al. Auditory attraction: activation of visual cortex by music and sound in Williams syndrome. Am J Intellect Dev Disabil. 2010;115:172-89 pubmed publisher
    b>Williams syndrome is a genetic neurodevelopmental disorder with a distinctive phenotype, including cognitive-linguistic features, nonsocial anxiety, and a strong attraction to music...
  39. Dodd H, Porter M. I see happy people: Attention bias towards happy but not angry facial expressions in Williams syndrome. Cogn Neuropsychiatry. 2010;15:549-67 pubmed publisher
    Observations of behaviour and research using eyetracking technology have shown that individuals with Williams syndrome (WS) pay an unusual amount of attention to other people's faces...
  40. Haas B, Hoeft F, Searcy Y, Mills D, Bellugi U, Reiss A. Individual differences in social behavior predict amygdala response to fearful facial expressions in Williams syndrome. Neuropsychologia. 2010;48:1283-8 pubmed publisher
    b>Williams syndrome (WS) is a genetic condition often paired with abnormal social functioning and behavior...
  41. Morris C. The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment. Am J Med Genet C Semin Med Genet. 2010;154C:427-31 pubmed publisher
    b>Williams syndrome (WS), caused by hemizygous deletion of 1.55-1.8?Mb of chromosome 7q11.23, has a recognizable behavior phenotype that is an important diagnostic sign...
  42. Collette J, Chen X, Mills D, Galaburda A, Reiss A, Bellugi U, et al. William's syndrome: gene expression is related to parental origin and regional coordinate control. J Hum Genet. 2009;54:193-8 pubmed publisher
    ..Interspecies comparisons suggest GTF2I may play a key role in normal brain development...
  43. Marler J, Sitcovsky J, Mervis C, Kistler D, Wightman F. Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet C Semin Med Genet. 2010;154C:249-65 pubmed publisher
    Hearing loss is common in school-age individuals with Williams syndrome (WS) and extensive in adults...
  44. Mervis C, Kistler D, John A, Morris C. Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition. Am J Intellect Dev Disabil. 2012;117:134-55 pubmed publisher
    ..address the longitudinal stability of standard scores (SSs) measuring intellectual ability for children with Williams syndrome (WS)...
  45. Enkhmandakh B, Makeyev A, Erdenechimeg L, Ruddle F, Chimge N, Tussie Luna M, et al. Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci U S A. 2009;106:181-6 pubmed publisher
  46. Riby D, Hancock P. Viewing it differently: social scene perception in Williams syndrome and autism. Neuropsychologia. 2008;46:2855-60 pubmed publisher
    The genetic disorder Williams syndrome (WS) is associated with a propulsion towards social stimuli and interactions with people...
  47. Doherty Sneddon G, Riby D, Whittle L. Gaze aversion as a cognitive load management strategy in autism spectrum disorder and Williams syndrome. J Child Psychol Psychiatry. 2012;53:420-30 pubmed publisher
    ..with autism spectrum disorder (ASD; associated with reduced sociability and atypical face gaze) and Williams syndrome (WS; associated with hypersociability and atypical face gaze) use GA to manage cognitive load during face-to-..
  48. Campbell L, Stevens A, Daly E, Toal F, Azuma R, Karmiloff Smith A, et al. A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia. 2009;47:1034-44 pubmed publisher
    ..Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS...
  49. Santos A, Silva C, Rosset D, Deruelle C. Just another face in the crowd: evidence for decreased detection of angry faces in children with Williams syndrome. Neuropsychologia. 2010;48:1071-8 pubmed publisher
    ..has been found in typical and atypical development, it is unknown whether it exists in individuals with Williams syndrome (WS), who show reduced social fear and atypical sociability...
  50. O HEARN K, Luna B. Mathematical skills in Williams syndrome: insight into the importance of underlying representations. Dev Disabil Res Rev. 2009;15:11-20 pubmed publisher
    b>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...
  51. John A, Mervis C. Sensory modulation impairments in children with Williams syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:266-76 pubmed publisher
    ..We hypothesized that children with Williams syndrome (WS) would demonstrate symptoms of poor sensory modulation and that these sensory modulation abnormalities ..
  52. Doherty Sneddon G, Riby D, Calderwood L, Ainsworth L. Stuck on you: face-to-face arousal and gaze aversion in Williams syndrome. Cogn Neuropsychiatry. 2009;14:510-23 pubmed publisher
    ..We investigate whether individuals with Williams syndrome (WS), associated with hypersociability and atypical face gaze, use GA to manage cognitive load and whether ..
  53. Li H, Roy M, Kuscuoglu U, Spencer C, Halm B, Harrison K, et al. Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med. 2009;1:50-65 pubmed publisher
    ..Together, these partial deletion mice replicate crucial aspects of the human disorder and serve to identify genes and gene networks contributing to the neural substrates of complex behaviours and behavioural disorders...
  54. Cuscó I, Corominas R, Bayés M, Flores R, Rivera Brugués N, Campuzano V, et al. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res. 2008;18:683-94 pubmed publisher
  55. Riby D, Hancock P. Do faces capture the attention of individuals with Williams syndrome or autism? Evidence from tracking eye movements. J Autism Dev Disord. 2009;39:421-31 pubmed publisher
    The neuro-developmental disorders of Williams syndrome (WS) and autism can reveal key components of social cognition. Eye-tracking techniques were applied in two tasks exploring attention to pictures containing faces...
  56. Rhodes S, Riby D, Park J, Fraser E, Campbell L. Executive neuropsychological functioning in individuals with Williams syndrome. Neuropsychologia. 2010;48:1216-26 pubmed publisher
    ..investigated executive neuropsychological functioning in individuals with the neuro-developmental disorder Williams syndrome (WS) using a set of validated standardized neuropsychological tasks...
  57. Lacroix A, Guidetti M, Roge B, Reilly J. Recognition of emotional and nonemotional facial expressions: a comparison between Williams syndrome and autism. Res Dev Disabil. 2009;30:976-85 pubmed publisher
    The aim of our study was to compare two neurodevelopmental disorders (Williams syndrome and autism) in terms of the ability to recognize emotional and nonemotional facial expressions...
  58. Wengenroth M, Blatow M, Bendszus M, Schneider P. Leftward lateralization of auditory cortex underlies holistic sound perception in Williams syndrome. PLoS ONE. 2010;5:e12326 pubmed publisher
    ..Since WS subjects had only minor musical training due to psychomotor constraints we hypothesized that any changes compared to the control group would reflect the contribution of genetic factors to auditory processing and musicality...
  59. Dodd H, Porter M, Peters G, Rapee R. Social approach in pre-school children with Williams syndrome: the role of the face. J Intellect Disabil Res. 2010;54:194-203 pubmed publisher
    Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype...
  60. Czosek R, Berul C. Congenital long-QT syndrome concealed by hypercalcemia in Williams Syndrome. J Cardiovasc Electrophysiol. 2008;19:1322-4 pubmed publisher
    We report a case of gene-positive long-QT syndrome (KCNH2) in a patient with concomitant Williams Syndrome. The hypercalcemia that developed in association with Williams Syndrome pseudo-normalized the QTc interval on surface ECG, ..
  61. Paul B, Snyder A, Haist F, Raichle M, Bellugi U, Stiles J. Amygdala response to faces parallels social behavior in Williams syndrome. Soc Cogn Affect Neurosci. 2009;4:278-85 pubmed publisher
    Individuals with Williams syndrome (WS), a genetically determined disorder, show relatively strong face-processing abilities despite poor visuospatial skills and depressed intellectual function...
  62. Martens M, Reutens D, Wilson S. Auditory cortical volumes and musical ability in Williams syndrome. Neuropsychologia. 2010;48:2602-9 pubmed publisher
    Individuals with Williams syndrome (WS) have been shown to have atypical morphology in the auditory cortex, an area associated with aspects of musicality...
  63. Capitão L, Sampaio A, Sampaio C, Vasconcelos C, Férnandez M, Garayzábal E, et al. MRI amygdala volume in Williams Syndrome. Res Dev Disabil. 2011;32:2767-72 pubmed publisher
    One of the most intriguing characteristics of Williams Syndrome individuals is their hypersociability...
  64. Dutra R, Pieri P, Teixeira A, Honjo R, Bertola D, Kim C. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. Clinics (Sao Paulo). 2011;66:959-64 pubmed
    ..Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable...
  65. Hoeft F, Barnea Goraly N, Haas B, Golarai G, Ng D, Mills D, et al. More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome. J Neurosci. 2007;27:11960-5 pubmed
    ..tensor imaging to examine white matter integrity in the dorsal and ventral streams among individuals with Williams syndrome (WS) compared with two control groups (typically developing and developmentally delayed) and using three ..
  66. Hocking D, Rinehart N, McGinley J, Moss S, Bradshaw J. A kinematic analysis of visually-guided movement in Williams syndrome. J Neurol Sci. 2011;301:51-8 pubmed publisher
    Previous studies have reported that people with the neurodevelopmental disorder Williams syndrome exhibit difficulties with visuomotor control...
  67. Leonard H, Annaz D, Karmiloff Smith A, Johnson M. Developing spatial frequency biases for face recognition in autism and Williams syndrome. J Autism Dev Disord. 2011;41:968-73 pubmed publisher
    The current study investigated whether contrasting face recognition abilities in autism and Williams syndrome could be explained by different spatial frequency biases over developmental time...
  68. Järvinen Pasley A, Vines B, Hill K, Yam A, Grichanik M, Mills D, et al. Cross-modal influences of affect across social and non-social domains in individuals with Williams syndrome. Neuropsychologia. 2010;48:456-66 pubmed publisher
    The Williams syndrome (WS) cognitive profile is characterized by relative strengths in face processing, an attentional bias towards social stimuli, and an increased affinity and emotional reactivity to music...
  69. Arlinghaus L, Thornton Wells T, Dykens E, Anderson A. Alterations in diffusion properties of white matter in Williams syndrome. Magn Reson Imaging. 2011;29:1165-74 pubmed publisher
    Diffusion tensor imaging (DTI) was used to investigate the involvement of brain white matter in Williams syndrome (WS), a genetic neurodevelopmental disorder...
  70. Järvinen Pasley A, Adolphs R, Yam A, Hill K, Grichanik M, Reilly J, et al. Affiliative behavior in Williams syndrome: social perception and real-life social behavior. Neuropsychologia. 2010;48:2110-9 pubmed publisher
    A frequently noted but largely anecdotal behavioral observation in Williams syndrome (WS) is an increased tendency to approach strangers, yet the basis for this behavior remains unknown...
  71. Hocking D, Bradshaw J, Rinehart N. Fronto-parietal and cerebellar contributions to motor dysfunction in Williams syndrome: a review and future directions. Neurosci Biobehav Rev. 2008;32:497-507 pubmed
    b>Williams syndrome (WS) is a rare genetically based neurodevelopmental disorder which is associated with mental retardation and a distinctive cognitive and behavioural profile, including weaknesses in visuospatial processing but preserved ..
  72. John A, Rowe M, Mervis C. Referential communication skills of children with Williams syndrome: understanding when messages are not adequate. Am J Intellect Dev Disabil. 2009;114:85-99 pubmed publisher
    Although children with Williams syndrome have relatively good structural language and concrete vocabulary abilities, they have difficulty with pragmatic aspects of language...
  73. Walter E, Mazaika P, Reiss A. Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience. 2009;164:257-71 pubmed publisher
    ..We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations...
  74. Pinheiro A, Galdo Alvarez S, Rauber A, Sampaio A, Niznikiewicz M, Gonçalves Ó. Abnormal processing of emotional prosody in Williams syndrome: an event-related potentials study. Res Dev Disabil. 2011;32:133-47 pubmed publisher
    b>Williams syndrome (WS), a neurodevelopmental genetic disorder due to a microdeletion in chromosome 7, is described as displaying an intriguing socio-cognitive phenotype...
  75. Bassareo P, Mercuro G. Increased arterial stiffness in children with Williams syndrome and normal blood pressure. Blood Press Monit. 2010;15:257-61 pubmed publisher
    ..BP), probably related to the loss of arterial elasticity, frequently arises in patients affected by Williams syndrome (WS)...
  76. Attias J, Raveh E, Ben Naftali N, Zarchi O, Gothelf D. Hyperactive auditory efferent system and lack of acoustic reflexes in Williams syndrome. J Basic Clin Physiol Pharmacol. 2008;19:193-207 pubmed
    The auditory efferent system and acoustic reflexes have been investigated in patients with Williams syndrome (WS)...
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    b>Williams syndrome is a neurodevelopmental disorder associated with significant non-social fears...
  78. Antonell A, Del Campo M, Magano L, Kaufmann L, de la Iglesia J, Gallastegui F, et al. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. J Med Genet. 2010;47:312-20 pubmed publisher
    ..23. The analysis of clinical-molecular correlations in a few reported atypical patients has been useful to propose several deleted genes as main contributors to specific aspects of the WBS phenotype...
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    ..allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille ..