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Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior

  • Anna Järvinen-Pasley (a1), Ursula Bellugi (a1), Judy Reilly (a2) (a3), Debra L. MILLS (a4), Albert Galaburda (a5), Allan L. Reiss (a6) and Julie R. Korenberg (a7)...

Research into phenotype–genotype correlations in neurodevelopmental disorders has greatly elucidated the contribution of genetic and neurobiological factors to variations in typical and atypical development. Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene–brain–behavior relationships. WS is a neurogenetic disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q11.23. This results in a cascade of physical, cognitive–behavioral, affective, and neurobiological aberrations. WS is associated with a markedly uneven neurocognitive profile, and the mature state cognitive profile of WS is relatively well developed. Although anecdotally, individuals with WS have been frequently described as unusually friendly and sociable, personality remains a considerably less well studied area. This paper investigates genetic influences, cognitive–behavioral characteristics, aberrations in brain structure and function, and environmental and biological variables that influence the social outcomes of individuals with WS. We bring together a series of findings across multiple levels of scientific enquiry to examine the social phenotype in WS, reflecting the journey from gene to the brain to behavior. Understanding the complex multilevel scientific perspective in WS has implications for understanding typical social development by identifying important developmental events and markers, as well as helping to define the boundaries of psychopathology.

Corresponding author
Address correspondence and reprint requests to: Ursula Bellugi, Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037-1099; E-mail:
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This research is based largely on our studies stemming from NIH Program Project PO1 NICHD 33113. Projects include molecular genetics (J.R.K.), neurophysiology (D.M.), functional neuroanatomy (A.L.R.), cellular architectonics (A.G.), and neurocognitive characterization (U.B., in association with A.J.P. and J.R.).

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Adolphs R. (2001). The neurobiology of social cognition. Current Opinion in Neurobiology, 11, 231239.
Adolphs R. (2003). Cognitive neuroscience of human social behavior. Nature Reviews Neuroscience, 4, 165178.
Adolphs R., Tranel D., & Damasio A. R. (1998). The human amygdala in social judgment. Nature, 393, 470474.
Baldwin D. A. (1991). Infants' contribution to the achievement of joint reference. Child Development, 62, 875890.
Bauman M. D., Lavenex P., Mason W. A., Capitanio J. P., & Amaral D. G. (2004). The development of mother–infant interactions after neonatal amygdala lesions in rhesus monkeys. The Journal of Neuroscience, 24, 711721.
Beery K. E. (1989). Developmental Test of Visuo–Motor Integration (3rd rev.). Cleveland, OH: Modern Curriculum Press.
Bellugi U., Adolphs R., Cassady C., & Chiles M. (1999). Towards the neural basis for hypersociability in a genetic syndrome. NeuroReport, 10, 16531657.
Bellugi U., Lichtenberger L., Jones W., Lai Z., & St. George M. (2000). The neurocognitive profile of Williams syndrome: A complex pattern of strengths and weaknesses. Journal of Cognitive Neuroscience, 12 (Suppl. 1), 729.
Bellugi U., Lichtenberger L., Mills D., Galaburda A., & Korenberg J. R. (1999). Bridging cognition, the brain and molecular genetics: Evidence from Williams syndrome. Trends in Neurosciences, 22, 197207.
Benton A. L., Hamsher K. de S., Varney N. R., & Spreen O. (1983). Contributions to neuropsychological assessment. New York: Oxford University Press.
Beuren A. J., Apitz J., & Harmjanz D. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation, 26, 12351240.
Bishop D. V. M. (1997). Cognitive neuropsychology and developmental disorders: Uncomfortable bedfellows. Quarterly Journal of Experimental Psychology, 50A, 899923.
Boersma P. (2001). PRAAT, a system for doing phonetics by computer. Glot International, 5, 341345. Retrieved from
Bongiovanni A. M., Eberlein W. R., & Jones I. T. (1957). Idiopathic hypercalcemia of infancy, with failure to thrive; Report of three cases, with a consideration of the possible etiology. New England Journal of Medicine, 257, 951958.
Botta A., Novelli G., Mari A., Novelli A., Sabani M., Korenberg J., et al. (1999). Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. Journal of Medical Genetics, 36, 478480.
Brock J. (2007). Language abilities in Williams syndrome: A critical review. Development and Psychopathology, 19, 97127.
Brothers L. (1990). The social brain: A project for integrating primate behaviour and neurophysiology in a new domain. Concepts in Neuroscience, 1, 2751.
Brown J., Johnson M. H., Paterson S., Gilmore S., Gsodl M., Longhi E., et al. (2003). Spatial representation and attention in todders with Williams syndrome and Down syndrome. Neuropsychologia, 41, 10371046.
Chen X.-N., & Korenberg J. R. (2002). BAC resource for molecular cytogenetics. Methods in Molecular Biology, 204, 391403.
Cicchetti D. (1990). A historical perspective on the discipline of developmental psychopathology. In Rolf J., Masten A., Cicchetti D., Nuechterlein K., & Weintraub S. (Eds.), Risk and protective factors in the development of psychopathology (pp. 228). New York: Cambridge University Press.
Cicchetti D. (2002). The impact of social experience on neurobiological systems: Illustration from a constructivist view of child maltreatment. Cognitive Development, 17, 113142.
Cicchetti D. (2006). Development and psychopathology. In Cicchetti D. & Cohen D. J. (Eds.), Developmental psychopathology: Vol. 1. Theory and method (2nd ed., pp. 123). New York: Wiley.
Cicchetti D., & Aber J. L. (1998). Contextualism and developmental psychopathology. Development and Psychopathology, 10, 137141.
Cicchetti D., & Blender J. A. (2004). A multiple-levels-of-analysis approach to the study of developmental processes in maltreated children. Proceedings of the National Academy of Sciences of the United States of America, 101, 1732517326.
Cicchetti D., & Dawson G. (2002). Multiple levels of analysis. Development and Psychopathology, 14, 417420.
Cicchetti D., & Rogosch F. (1996). Equifinality and multifinality in developmental psychopathology. Development and Psychopathology, 8, 597600.
Cicchetti D., & Tucker D. (1994). Development and self-regulatory structures of the mind. Development and Psychopathology, 6, 533549.
Curtis W. J., & Cicchetti D. (2003). Moving research on resilience into the 21st century: Theoretical and methodological considerations in examining the biological contributions to resilience. Development and Psychopathology, 15, 773810.
Doyle T. F., Bellugi U., Korenberg J. R., & Graham J. (2004). “Everybody in the world is my friend.” Hypersociability in young children with Williams syndrome. American Journal of Medical Genetics, 124A, 263273.
Doyle T. F., Bellugi U., Reiss A. L., Galaburda A. M, Mills D. L., & Korenberg J. R. (2004). Genes, neural systems, and cognition: Social behavior of children with Williams syndrome: Observing genes at play? [Abstract]. In Society for Neuroscience 34th Annual Meeting Abstracts. Washington, DC: Society for Neuroscience.
Dunn L. M., & Dunn L. M. (1981). Peabody Picture Vocabulary Test—Revised. Circle Pines, MN: American Guidance Service.
Dykens E. M. (2003). Anxiety, fears, and phobias in persons with Williams syndrome. Developmental Neuropsychology, 23, 291316.
Eckert M. A., Galaburda A. M., Karchemskiy A., Liang A., Thompson P., Dutton R. A., et al. (2006). Anomalous Sylvian fissure morphology in Williams syndrome. NeuroImage, 33, 3945.
Eckert M. A., Hu D., Eliez S., Bellugi U., Galaburda A., Korenberg J. R., et al. (2005). Evidence for superior parietal impairment in Williams syndrome. Neurology, 64, 152153.
Eckert M. A., Tenforde A., Galaburda A. M., Bellugi U., Korenberg J. R., Mills D., et al. (2006). To modulate or not to modulate? Differing results in uniquely shaped Williams syndrome brains. NeuroImage, 32, 10011007.
Einfeld S. L., Tonge B. J., & Florio T. (1997). Behavioral and emotional disturbance in individuals with Williams syndrome. American Journal of Mental Retardation, 102, 4553.
Elliott C. D. (1990). Differential Abilities Scales. New York: Psychological Corporation.
Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., et al. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics, 5, 1116.
Farran E. K., & Jarrold C. (2003). Visuo-spatial cognition in Williams syndrome: Reviewing and accounting for strengths and weaknesses in performance. Developmental Neuropsychology, 23, 173200.
Farran E. K., Jarrold C., & Gathercole S. E. (2001). Block design performance in the Williams syndrome phenotype: A problem with mental imagery? Journal of Child Psychology and Psychiatry, 42, 719728.
Farran E. K., Jarrold C., & Gathercole S. E. (2003). Divided attention, selective attention and drawing: Processing preferences in Williams syndrome are dependent on the task administered. Neuropsychologia, 41, 676687.
Frigerio E., Burt D. M., Gagliardi C., Cioffi G., Martelli S., Perrett D. I., et al. (2006). Is everybody always my friend? Perception of approachability in Williams syndrome. Neuropsychologia, 44, 254259.
Gagliardi C., Frigerio E., Burt D. M., Cazzaniga I., Perrett D. I., & Borgatti R. (2003). Facial expression recognition in Williams syndrome. Neuropsychologia, 41, 733738.
Galaburda A. M, & Bellugi U. (2000). V. Multi-level analysis of cortical neuroanatomy in Williams syndrome. Journal of Cognitive Neuroscience, 12(Suppl. 1), 7488.
Galaburda A. M., Holinger D. P., Bellugi U., & Sherman G. F. (2002). Williams syndrome: Neuronal size and neuronal-packing density in primary visual cortex. Archives of Neurology, 59, 14611467.
Galaburda A. M., Wang P. P., Bellugi U., & Rossen M. (1994). Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome. NeuroReport, 21, 753757.
Ghashghaei H. T., & Barbas H. (2002). Pathways to emotion: Interactions of prefrontal and anterior temporal pathways in the amygdala of the rhesus monkey. Neuroscience, 115, 12611279.
Goldman-Rakic P. (1987). Development of cortical circuitry and cognitve function. Child Development, 58, 601622.
Goldsmith H. H., Reilly J., Lemery K. S., Longley S., & Prescott A. (1993). Preschool Laboratory Temperament Assessment Battery (PS Lab-TAB; Version 1.0. Technical Report). Madison, WI: University of Wisconsin–Madison, Department of Psychology.
Gosch A., & Pankau R. (1994). Social–emotional and behavioral adjustment in children with Williams–Beuren syndrome. American Journal of Medical Genetics, 53, 335339.
Gosch A., & Pankau R. (1997). Personality characteristics and behavioral problems in individuals of different ages with Williams syndrome. Developmental Medicine and Child Neurology, 39, 327533.
Gray V., Karmiloff-Smith A., Funnell E., & Tassabehji M. (2006). In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene. Neuropsychologia, 44, 679685.
Grossman A. W., Churchill J. D., McKinney B. C., Kodish I. M., Otte S. L., & Greenough W. T. (2003). Experience effects on brain development: Possible contributions to psychopathology. Journal of Child Psychology and Psychiatry, 44, 3363.
Harrison D., Reilly J. S., & Klima E. S. (1995). Unusual social behavior in Williams syndrome: Evidence from biographical interviews. Genetic Counseling, 6, 181183.
Hirota H., Matsuoka R., Chen X.-N., Salandanan L. S., Lincoln A., Rose F. E., et al. (2003). Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genetics in Medicine, 5, 311321.
Holinger D. P., Bellugi U., Mills D. L., Korenberg J. R., Reiss A. L., Sherman G. F., et al. (2005). Relative sparing of primary auditory cortex in Williams syndrome. Brain Research, 1037, 3542.
Hoogenraad C. C., Eussen B. H., Langeveld A., van Haperen R., Winterberg S., Wouters C. H., et al. (1998). The murine CYLN2 gene: Genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. Genomics, 53, 348358.
Howlin P., Davies M., & Udwin O. (1998). Cognitive functioning in adults with Williams syndrome. Journal of Child Psychology and Psychiatry, 39, 183189.
Jackowski A. P., & Schultz R. T. (2005). Foreshortened dorsal extension of the central sulcus in Williams syndrome. Cortex, 41, 282290.
Järvinen-Pasley A., Reilly J., Reiss A. L., Korenberg J. R., & Bellugi U. (2006). Investigating the relative strengths of social–perceptual abilities and expressive social behaviors in Williams syndrome. Poster presented at the Cognitive Neuroscience Society's Annual Conference, San Francisco, CA.
Johnson M. H. (2001). Functional brain development in humans. Nature Reviews Neuroscience, 2, 475483.
Johnston M. V. (2001). Developmental disorders of activity dependent neuronal plasticity. Indian Journal of Pediatrics, 68, 3426.
Jones W., Bellugi U., Lai Z., Chiles M., Reilly J., Lincoln A., et al. (2000). II. Hypersociability in Williams syndrome. Journal of Cognitive Neuroscience, 12(Suppl. 1), 3046.
Jones W., Hesselink J., Courchesne E., Duncan T., Matsuda K., & Bellugi U. (2002). Cerebellar abnormalities in infants and toddlers with Williams syndrome. Developmental Medicine and Child Neurology, 44, 688694.
Karmiloff-Smith A. (1992). Beyond modularity: A developmental perspective on cognitive science. Cambridge, MA: MIT Press.
Karmiloff-Smith A. (1997). Crucial differences between developmental cognitive neuroscience and adult neuropsychology. Developmental Neuropsychology, 13, 513524.
Karmiloff-Smith A. (1998). Development itself is the key to understanding developmental disorders. Trends in Cognitive Sciences, 2, 389398.
Karmiloff-Smith A. (2006). The tortuous route from genes to behavior: A neuroconstructivist approach. Cognitive, Affective, & Behavioral Neuroscience, 6, 917.
Karmiloff-Smith A. (2007a). Atypical epigenesis. Developmental Science, 10, 8488.
Karmiloff-Smith A. (2007b). Research into Williams syndrome: The state of the art. In Nelson C. A. & Luciana M. (Eds.) Handbook of developmental cognitive neuroscience. Cambridge, MA: MIT Press.
Karmiloff-Smith A., Ansari D., Campbell L., Scerif G., & Thomas M. S. C. (2006). Theoretical implications of studying genetic disorders: The case of Williams syndrome. In Morris C., Lenhoff H. & Wang P. (Eds.), Williams–Beuren syndrome: Research and clinical perspectives (pp. 254273). Baltimore, MD: Johns Hopkins University Press.
Karmiloff-Smith A., Grant J., Ewing S., Carette M. J., Metcalfe K., Donnai D., et al. (2003). Using case study comparisons to explore genotype-phenotype correlations in Williams–Beuren syndrome. Journal of Medical Genetics, 40, 136140.
Karmiloff-Smith A., Klima E., Bellugi U., Grant J., & Baron-Cohen S. (1995). Is there a social module? Language, face processing and theory of mind in individuals with Williams syndrome. Journal of Cognitive Neuroscience, 7, 196208.
Karmiloff-Smith A., Scherif G., & Thomas M. (2002). Different approaches to relating genotype to phenotype in developmental disorders. Development and Psychopathology, 40, 311322.
Karmiloff-Smith A., & Thomas M. (2003). What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome. Development and Psychopathology, 15, 969990.
Klein-Tasman B. P., & Mervis C. B. (2003). Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Developmental Neuropsychology, 23, 269290.
Korenberg J. R., Bellugi U., Chen X.-N., Galaburda Saladanan L. S., Tirosh-Wagner A., Galaburda A., et al. (2007, November). Genes, neural systems, and social behavior: Genetic origins of hypersociability in Williams syndrome. Poster presented at the Society for Neuroscience's Annual Conference, San Diego, CA.
Korenberg J. R., Bellugi U., Salandanan L. S., Mills D. L., & Reiss A. L. (2003). Williams syndrome: A neurogenetic model of human behavior. In Encyclopedia of the human genome (pp. 756766). London: Nature Publishing Group.
Korenberg J. R., & Chen X.-N. (2001). Understanding the molecular genetic basis of human cognition: Evidence from Williams syndrome [Abstract]. Social Neuroscience, 5, 986.
Korenberg J. R., Chen X.-N., Hirota H., Lai Z., Bellugi U., Burian D., et al. (2000). VI. Genome structure and cognitive map of Williams syndrome. Journal of Cognitive Neuroscience, 12(Suppl. 1), 89107.
Korenberg J. R., Dai L., Bellugi U., Järvinen-Pasley A., Mills D. L., Galaburda A., et al. (in press). Deletion of 7q11.23 Genes and Williams Syndrome. In Epstein C. J., Erickson R. P., & Wynshaw-Boris A. (Eds.), Inborn errors of development (2nd ed.). New York: Oxford University Press.
Kreiter J., Bellugi U., Lichtenberger E. O., Klima E., Reilly J., & Kikuchi D. K. (2002). Gregarious language in narratives by adolescents Williams syndrome. Poster presented at the American Speech–Language–Hearing Association Conference, Atlanta, GA.
Kuhl P. K. (2004). Early language acquisition: Cracking the speech code. Nature Reviews Neuroscience, 5, 831843.
Labov W., & Waletsky J. (1967). Narrative analysis: Oral versions of personal experience. In Helm J. (Ed.), Essays on the verbal and visual arts (pp. 1244). Seattle, WA: University of Washington Press.
LaCroix A., Bernicot J., & Reilly J. (in press). Narrative and collaborative conversation in French-speaking children with Williams syndrome. Journal of Neurolinguistics.
Laing E., Butterworth G., Ansari D., Gsödl M., Longhi E., Panagiotaki G., et al. (2002). Atypical development of language and social communication in toddlers with Williams syndrome. Developmental Science, 5, 233246.
Lando R., Reilly J., Searcy Y., & Bellugi U. (2006). Prosody use in adolescents with Williams syndrome. Poster presented at the Williams Syndrome Association Professional Conference in Richmond, VA, July 2006.
Laws G., & Bishop D. M. V. (2004). Pragmatic language impairment and social deficits in Williams syndrome: A comparison with Down's syndrome and specific language impairment. International Journal of Language and Communication Disorders, 39, 4564.
LeDoux J. (2003). The emotional brain, fear, and the amygdala. Cellular and Molecular Neurobiology, 23, 727738.
Leyfer O. T., Woodruff-Borden J., Klein-Tasman B. P., Fricke J. S., & Mervis C. B. (2006). Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. American Journal of Medical Genetics B: Neuropsychiatric Genetics, 141, 615622.
Losh M., Bellugi U., Reilly J., & Anderson D. (2000). Narrative as a social engagement tool: The excessive use of evaluation in narratives from children with Williams syndrome. Narrative Inquiry, 10, 126.
Lowery M. C., Morris C. A., Ewart A., Brothman L. J., Zhu X. L., Leonard C. O., et al. (1995). Strong correlation of elastin deletions, detected by FISH, with Williams syndrome. American Journal of Human Genetics, 57, 4953.
Majdan M., & Schatz C. J. (2006). Effects of visual experience on activity-dependent gene regulation in cortex. Nature Neuroscience, 9, 650659.
Masataka N. (2001). Why early linguistic milestones are delayed in children with Williams syndrome: Late onset of hand banging as a possible rate-limiting constraint on the emergence on canonical babbling. Developmental Science, 4, 158164.
Mayer M. (1969). Frog, where are you? New York: Dial Books for Young Readers.
Meng Y., Zhang Y., Tregoubov V., Janus C., Cruz L., Jackson M., et al. (2002). Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron, 35, 121133.
Mervis C. B., & Bertrand J. (1994). Acquisition of the novel nameless category (N3C) principle. Child Development, 65, 16461662.
Mervis C. B., & Bertrand J. (1997). Developmental relations between cognition and language. In Adamson L. B. & Romski M. A. (Eds.), Communication and language acquisition: Discoveries from atypical development. Baltimore, MD: Paul Brookes.
Mervis C. B., & Klein-Tasman B. P. (2000). Williams syndrome: Cognition, personality, and adaptive behavior. Mental Retardation and Developmental Disabilities Research Reviews, 6, 148158.
Mervis C. B., Morris C. A., Klein-Tasman B. P., Bertrand J., Kwitny S., Appelbaum G., et al. (2003). Attentional characteristics of infants and toddlers with Williams syndrome during triadic interactions. Developmental Neuropsychology, 23, 243268.
Mervis C. B., & Robinson B. F. (2000). Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: A comparison. Developmental Neuropsychology, 17, 111126.
Mervis C. B., Robinson B. F., Bertrand J., Morris C. A., Klein-Tasman B. P., & Armstrong S. C. (2000). The Williams syndrome cognitive profile. Brain and Cognition, 44, 604628.
Meyer-Lindenberg A., Hariri A. R., Munoz K. E., Mervis C. B., Mattay V. S., Morris C. A., & Berman K. F. (2005). Neural correlates of genetically abnormal social cognition in Williams syndrome. Nature Neuroscience, 8, 991993.
Meyer-Lindenberg A., Kohn P., Mervis C. B., Kippenhan J. S., Olsen R. K., Morris C. A., et al. (2004). Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron, 43, 623631.
Meyer-Lindenberg A., Mervis C. B., & Berman K. F. (2006). Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behaviour. Nature Reviews Neuroscience, 7, 380393.
Meyer-Lindenberg A., Mervis C. B., Sarpal D., Koch P., Steele S., Kohn P., et al. (2005). Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. Journal of Clinical Investigation, 115, 18881895.
Mills D., Alvarez T., St. George M., Appelbaum L., Bellugi U., & Neville H. (2000). Electrophysiological studies of face processing in Williams syndrome. Journal of Cognitive Neuroscience, 12(Suppl. 1), 4764.
Mills D., Yam A., Lincoln A., Rull D., Galaburda A., Bellugi U., et al. (2007). Autism and Williams syndrome: Contrasting patterns of social brain activity. Manuscript submitted for publication.
Mobbs D., Garrett A. S., Menon V., Rose F. E., Bellugi U., & Reiss A. L. (2004). Anomalous brain activation during face and gaze processing in Williams syndrome. Neurology, 62, 20702076.
Morris C. A., Demsey S. A., Leonard C. O., Dilts C., & Blackburn B. L. (1988). Natural history of Williams syndrome: Physical characteristics. Journal of Pediatrics, 113, 318326.
Morris C. A., & Mervis C. B. (2000). Williams syndrome and related disorders. Annual Review of Genomics and Human Genetics, 1, 461484.
Morris C. A., Mervis C. B., Hobart H. H., Gregg R. G., Bertrand J., Ensing G. J., et al. (2003). GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region. American Journal of Medical Genetics A, 123, 4559.
Nazzi T., Paterson S., & Karmiloff-Smith A. (2003). Early word segmentation by infants and toddlers with Williams syndrome. Infancy, 4, 251271.
Noldus L. P., Trienes R. J., Hendriksen A. H., Jansen H., & Jansen R. G. (2000). The observer video-pro: New software for the collection, management, and presentation of time-structured data from videotapes and digital media files. Behavior Research Methods, Instruments, & Computers, 32, 197206.
Paterson S. J., Girelli L., Butterworth B., & Karmiloff-Smith A. (2006). Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down syndrome. Journal of Child Psychology and Psychiatry, 47, 190204.
Phillips M. L., Young A. W., Senior C., Brammer M., Andrew C., Calder A. J., et al. (1997). A specific neural substrate for perceiving facial expressions of disgust. Nature, 389, 495498.
Pinker S. (1994). The language instinct. New York: Harper Perennial.
Pinker S. (1999). Words and rules. London: Weidenfeld & Nicolson.
Plesa-Skwerer D., Faja S., Schofield C., Verbalis A., & Tager-Flusberg H. (2006). Perceiving facial and vocal expressions of emotion in individuals with Williams syndrome. American Journal of Mental Retardation, 111, 1526.
Plesa-Skwerer D., Verbalis A., Schofield C., Faja S., & Tager-Flusberg H. (2005). Social-perceptual abilities in adolescents and adults with Williams syndrome. Cognitive Neuropsychology, 22, 112.
Plomin R., & Rende R. (1991). Human behavior genetics. Annual Review of Psychology, 42, 161190.
Posner M. I., Rothbart M. K., Farah M., & Bruer J. (2001). The developing brain. Developmental Science, 4, 253387.
Price J. L. (1999). Prefrontal cortical networks related to visceral function and mood. Annals of the New York Academy of Sciences, 877, 383396.
Proschel C., Blouin M. J., Gutowski N. J., Ludwig R., & Noble M. (1995). Limk1 is predominantly expressed in neural tissues and phosphorylates serine, threonine and tyrosine residues in vitro. Oncogene, 11, 12711281.
Rae C., Karmiloff-Smith A., Lee M. A., Dixon R. M., Blamire A. M., Thompson C. H., et al. (1998). Brain biochemistry in Williams syndrome: Evidence for a role of the cerebellum in cognition? Neurology, 51, 3340.
Reilly J., Bernicot J., Vicari S., LaCroix A., & Bellugi U. (2005). Narratives in children with Williams syndrome: A cross linguistic perspective. In Ravid D. & Shyldkrot H. B. Z. (Eds.), Perspectives on language and language development: Essays in honor of Ruth A. Berman (pp. 303312). Dordrecht: Kluwer.
Reilly J., Klima E. S., & Bellugi U. (1990). Once more with feeling: Affect and language in atypical populations. Development and Psychopathology, 2, 367391.
Reilly J., LaCroix A., Poirier J., Bernicot J., Bellugi U., & Klima E. (2005). Narratives in French and American children with Williams syndrome. Le Langage et L'Homme: Logopedie, Psychologie, Audiologie.
Reilly J., Losh M., Bellugi U., & Wulfeck B. (2004). Frog, where are you? Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome. Brain and Language, 88, 229247.
Reiss A. L., & Dant C. C. (2003). The behavioral neurogenetics of fragile X syndrome: Analyzing gene–brain–behavior relationships in child developmental pathologies. Development and Psychopathology, 15, 927968.
Reiss A. L., Eckert M. A., Rose F. E., Karchemskiy A., Kesler S., Chang M., et al. (2004). An experiment of nature: Brain anatomy parallels cognition and behavior in Williams syndrome. Journal of Neuroscience, 24, 50095015.
Reiss A. L., Eliez S., Schmitt J. E., Patwardhan A., & Haberecht M. (2000). Brain imaging in neurogenetic conditions: Realizing the potential of behavioral neurogenetics research. Mental Retardation and Developmental Disability Research Reviews, 6, 186197.
Reiss A., Eliez S., Schmitt E., Straus E., Lai Z., Jones W., et al. (2000). Neuroanatomy of Williams syndrome: A high-resolution MRI study. Journal of Cognitive Neuroscience, 12(Suppl. 1), 6573.
Richters J. E. (1997). The Hubble hypothesis and the developmentalist's dilemma. Development and Psychopathology, 9, 193199.
Rolls E. T., Hornak J., Wade D., & McGrath J. (1994). Emotion-related learning in patients with social and emotional changes associated with frontal lobe damage. Journal of Neurology, Neurosurgery, and Psychiatry, 57, 15181524.
Rossen M. L., Jones W., Wang P. P., & Klima E. S. (1996). Face processing: Remarkable sparing in Williams syndrome. Genetic Counseling, 6, 138140.
Rothbart M. K., Ahadi S. A., Hershey K. L., & Fisher P. (2001). Investigations of temperament at three to seven years: The Children's Behavior Questionnaire. Child Development, 72, 13941408.
Rutter M., & Sroufe L. A. (2000). Developmental psychopathology: Concepts and challenges. Development and Psychopathology, 12, 265296.
Scerif G., & Karmiloff-Smith A. (2005). The dawn of cognitive genetics? Crucial developmental caveats. Trends in Cognitive Sciences, 9, 126135.
Schmitt J. E., Eliez S., Warsofsky I. S., Bellugi U., & Reiss A. L. (2001). Corpus callosum morphology in Williams syndrome: Relation to genetics and behavior. Developmental Medicine and Child Neurology, 43, 155159.
Schmitt J. E., Watts K., Eliez S., Bellugi U., Galaburda A., & Reiss A. L. (2002). Increased gyrification in Williams syndrome: Evidence using 3D MRI methods. Developmental Medicine and Child Neurology, 44, 292295.
Singer-Harris N. G., Bellugi U., Bates E., Jones W., & Rossen M. (1997). Contrasting profiles of language development in children with Williams and Down syndromes. Developmental Neuropsychology, 13, 345370.
Strømme P., Bjørnstad P. G., & Ramstad K. (2002). Prevalence estimation of Williams syndrome. Journal of Child Neurology, 17, 269271.
Sullivan K., & Tager-Flusberg H. (1999). Second-order belief attribution in Williams syndrome: Intact or impaired? American Journal of Mental Retardation, 104, 523532.
Tager-Flusberg H., Boshart J., & Baron-Cohen S. (1998). Reading the windows to the soul: Evidence of domain-specific sparing in Williams syndrome. Journal of Cognitive Neuroscience, 10, 631639.
Tager-Flusberg H., & Sullivan K. (2000). A componential view of theory of mind: Evidence from Williams syndrome. Cognition, 76, 5989.
Tanaka J. W., & Farah M. J. (1993). Parts and wholes in face recognition. Quarterly Journal of Experimental Psychology, 46A, 225245.
Tassabehji M. (2003). Williams–Beuren syndrome: A challenge for genotype-phenotype correlations. Human Molecular Genetics, 12, R229R237.
Tassabehji M., Hammond P., Karmiloff-Smith A., Thompson P., Thorgeirsson S. S., Durkin M. E., et al. (2005). GTF2IRD1 in craniofacial development of humans and mice. Science, 310, 11841187.
Tassabehji M., Metcalfe K., Karmiloff-Smith A., Carette M. J., Grant J., Dennis N., et al. (1999). Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. American Journal of Human Genetics, 64, 118125.
Tellegen A. (1985). Structures of mood and personality and their relevance to assessing anxiety, with an emphasis on self-report. In Tuma A. H. & Masser J. D. (Eds.), Anxiety and the anxiety disorders (pp. 681716). Hillsdale, NJ: Erlbaum.
Thompson P. M., Lee A. D., Dutton R. A., Geaga J. A., Hayashi K. M., Eckert M. A., et al. (2005). Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. Journal of Neuroscience, 25, 41464158.
Tomaiuolo F., Di Paola M., Caravale B., Vicari S., Petrides M., & Caltagirone C. (2002). Morphology and morphometry of the corpus callosum in Williams syndrome: A T1-weighted MRI study. NeuroReport, 13, 22812284.
Udwin O., & Yule W. (1990). Expressive language of children with Williams syndrome. American Journal of Medical Genetics, 6(Suppl.), 108114.
Udwin O., & Yule W. (1991). A cognitive and behavioural phenotype in Williams syndrome. Journal of Clinical Experimental Neuropsychology, 13, 232244.
von Arnim G. & Engel P. (1964). Mental retardation related to hypercalcaemia. Developmental Medicine and Child Neurology, 6, 366377.
Weisz J. R., Weiss B., Alicke M. D., & Klotz M. L. (1987). Effectiveness of psychotherapy with children and adolescents: A meta-analysis for clinicians. Journal of Consulting and Clinical Psychology, 55, 542549.
Williams J. C., Barratt-Boyes B. G., & Lowe J. B. (1961). Supravalvular aortic stenosis. Circulation, 24, 13111318.
Young E. J., Lipina T., Tam E., Mandel A., Clapcote S. J., Bechard A. R., et al. (in press). Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Genes, Brain and Behavior.
Zhao C., Aviles C., Abel R. A., Almli C. R., McQuillen P., & Pleasure S. J. (2005). Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval. Development, 132, 29172927.
Zitzer-Comfort C., Doyle T. F., Masataka N., Korenberg J. R., & Bellugi U. (2007). Nature and nurture: Williams syndrome across cultures. Developmental Science, 10, 755762.
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Development and Psychopathology
  • ISSN: 0954-5794
  • EISSN: 1469-2198
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