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Volumn 154, Issue 4, 2010, Pages 427-431

The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

Author keywords

Behavior; Phenotype; Williams syndrome

Indexed keywords

ADAPTIVE BEHAVIOR; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; BRAIN REGION; CHROMOSOME 7Q; CHROMOSOME DELETION; COGNITIVE DEFECT; DEPTH PERCEPTION; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENOTYPE; HEMIZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; PHENOTYPE; PHOBIA; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

EID: 78049399000     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30286     Document Type: Article
Times cited : (65)

References (70)
  • 1
    • 0001447853 scopus 로고
    • Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
    • Beuren AJ, Apitz J, Harmjanz D. 1962. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 27:1235-1240.
    • (1962) Circulation , vol.27 , pp. 1235-1240
    • Beuren, A.J.1    Apitz, J.2    Harmjanz, D.3
  • 2
    • 0001451071 scopus 로고
    • The syndrome of supravalvular aortic stenosis, peripheral pulmonic stenosis, mental retardation, and similar facial appearance
    • Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. 1964. The syndrome of supravalvular aortic stenosis, peripheral pulmonic stenosis, mental retardation, and similar facial appearance. Am J Cardiol 13:471-482.
    • (1964) Am J Cardiol , vol.13 , pp. 471-482
    • Beuren, A.J.1    Schulze, C.2    Eberle, P.3    Harmjanz, D.4    Apitz, J.5
  • 4
    • 0036357205 scopus 로고    scopus 로고
    • Behavioral phenotypes in genetic syndromes: Genetic clues to human behavior
    • Cassidy SB, Morris CA. 2002. Behavioral phenotypes in genetic syndromes: Genetic clues to human behavior. Adv Pediatr 49:59-86.
    • (2002) Adv Pediatr , vol.49 , pp. 59-86
    • Cassidy, S.B.1    Morris, C.A.2
  • 5
    • 0030070557 scopus 로고    scopus 로고
    • Neurologic findings in children and adults with Williams syndrome
    • Chapman CA, du Plessis A, Pober BR. 1996. Neurologic findings in children and adults with Williams syndrome. J Child Neurol 11:63-65.
    • (1996) J Child Neurol , vol.11 , pp. 63-65
    • Chapman, C.A.1    du Plessis, A.2    Pober, B.R.3
  • 6
    • 0025022133 scopus 로고
    • Hypothesis for development of a behavioral phenotype in Williams syndrome
    • Dilts CV, Morris CA, Leonard CO. 1990. Hypothesis for development of a behavioral phenotype in Williams syndrome. Am J Med Genet Suppl 6: 126-131.
    • (1990) Am J Med Genet , Issue.SUPPL. 6 , pp. 126-131
    • Dilts, C.V.1    Morris, C.A.2    Leonard, C.O.3
  • 7
    • 85009545944 scopus 로고    scopus 로고
    • Psychopathology in Williams syndrome: The effect of individual differences across the lifespan
    • Dodd HF, Porter MA. 2009. Psychopathology in Williams syndrome: The effect of individual differences across the lifespan. J Ment Health Res Intellect Disabil 2:89-109.
    • (2009) J Ment Health Res Intellect Disabil , vol.2 , pp. 89-109
    • Dodd, H.F.1    Porter, M.A.2
  • 8
    • 0037250384 scopus 로고    scopus 로고
    • Anxiety, fears, and phobias in persons with Williams syndrome
    • Dykens EM. 2003. Anxiety, fears, and phobias in persons with Williams syndrome. Dev Neuropsychol 23:291-316.
    • (2003) Dev Neuropsychol , vol.23 , pp. 291-316
    • Dykens, E.M.1
  • 10
    • 0030738460 scopus 로고    scopus 로고
    • Behavioral and emotional disturbance in individuals with Williams syndrome
    • Einfeld SL, Tonge BJ, Florio T. 1997. Behavioral and emotional disturbance in individuals with Williams syndrome. Am J Ment Retard 102:45-53.
    • (1997) Am J Ment Retard , vol.102 , pp. 45-53
    • Einfeld, S.L.1    Tonge, B.J.2    Florio, T.3
  • 14
    • 58949083379 scopus 로고    scopus 로고
    • Sleep patterns and daytime sleepiness in adolescents and young adults with Williams syndrome
    • Goldman SE, Malow BA, Newman KD, Roof E, Dykens EM. 2009. Sleep patterns and daytime sleepiness in adolescents and young adults with Williams syndrome. J Intellect Disabil Res 53:182-188.
    • (2009) J Intellect Disabil Res , vol.53 , pp. 182-188
    • Goldman, S.E.1    Malow, B.A.2    Newman, K.D.3    Roof, E.4    Dykens, E.M.5
  • 15
    • 0030821541 scopus 로고    scopus 로고
    • Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome
    • Gosch A, Pankau R. 1997. Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Dev Med Child Neurol 39:527-533.
    • (1997) Dev Med Child Neurol , vol.39 , pp. 527-533
    • Gosch, A.1    Pankau, R.2
  • 16
    • 33646178730 scopus 로고    scopus 로고
    • Hyperacusis in Williams syndrome: Characteristics and associated neuroaudiologic abnormalities
    • Gothelf D, Farber N, Raveh E, Apter A, Attias J. 2006. Hyperacusis in Williams syndrome: Characteristics and associated neuroaudiologic abnormalities. Neurology 66:390-395.
    • (2006) Neurology , vol.66 , pp. 390-395
    • Gothelf, D.1    Farber, N.2    Raveh, E.3    Apter, A.4    Attias, J.5
  • 18
    • 59649118435 scopus 로고    scopus 로고
    • Genetic influences on socialibility: Heightened amygdale reactivity ad event-related reponses to positive social stimuli in Williams syndrome
    • Haas BW, Mills D, Yam A, Hoeft F, Bellugi U, Reiss A. 2009. Genetic influences on socialibility: Heightened amygdale reactivity ad event-related reponses to positive social stimuli in Williams syndrome. J Neurosci 29:1132-1139.
    • (2009) J Neurosci , vol.29 , pp. 1132-1139
    • Haas, B.W.1    Mills, D.2    Yam, A.3    Hoeft, F.4    Bellugi, U.5    Reiss, A.6
  • 19
    • 0036741356 scopus 로고    scopus 로고
    • The amygdala response to emotional stimuli: A comparison of faces and scenes
    • Hariri AR, Tessitore A, Mattay VS, Fera F, Weinberger DR. 2002. The amygdala response to emotional stimuli: A comparison of faces and scenes. Neuroimage 17:317-323.
    • (2002) Neuroimage , vol.17 , pp. 317-323
    • Hariri, A.R.1    Tessitore, A.2    Mattay, V.S.3    Fera, F.4    Weinberger, D.R.5
  • 22
    • 77951582045 scopus 로고    scopus 로고
    • Sensory modulation impairments in children with Williams syndrome
    • John AE, Mervis CB. 2010. Sensory modulation impairments in children with Williams syndrome. Am J Med Genet Part C 154C:266-276.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 266-276
    • John, A.E.1    Mervis, C.B.2
  • 24
  • 25
    • 77949312359 scopus 로고    scopus 로고
    • Psychiatric diagnoses in patients with Williams syndrome and their families
    • Kennedy JC, Kaye DL, Sadler LS. 2006. Psychiatric diagnoses in patients with Williams syndrome and their families. Jefferson J Psychiatry 20:22-31.
    • (2006) Jefferson J Psychiatry , vol.20 , pp. 22-31
    • Kennedy, J.C.1    Kaye, D.L.2    Sadler, L.S.3
  • 27
    • 0037251227 scopus 로고    scopus 로고
    • Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome
    • Klein-Tasman BP, Mervis CB. 2003. Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Dev Neuropsychol 23:269-290.
    • (2003) Dev Neuropsychol , vol.23 , pp. 269-290
    • Klein-Tasman, B.P.1    Mervis, C.B.2
  • 28
    • 34548507034 scopus 로고    scopus 로고
    • Socio-communicative deficits in young children with Williams syndrome: Performance on the autism diagnostic observation schedule
    • Klein-Tasman BP, Mervis CB, Lord C, Phillips K. 2007. Socio-communicative deficits in young children with Williams syndrome: Performance on the autism diagnostic observation schedule. Child Neuropsychol 13:444-467.
    • (2007) Child Neuropsychol , vol.13 , pp. 444-467
    • Klein-Tasman, B.P.1    Mervis, C.B.2    Lord, C.3    Phillips, K.4
  • 31
    • 33847191339 scopus 로고    scopus 로고
    • Social interaction behaviors discriminate young children with autism and Williams syndrome
    • Lincoln AJ, Searcy YM, Jones W, Lord C. 2007. Social interaction behaviors discriminate young children with autism and Williams syndrome. J Am Acad Child Adolesc Psychiatry 46:323-331.
    • (2007) J Am Acad Child Adolesc Psychiatry , vol.46 , pp. 323-331
    • Lincoln, A.J.1    Searcy, Y.M.2    Jones, W.3    Lord, C.4
  • 32
    • 77951542710 scopus 로고    scopus 로고
    • Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing
    • Marler JA, Sitcovsky JL, Mervis C, Kistler DJ, Wightman FL. 2010. Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet Part C 154C:248-265.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 248-265
    • Marler, J.A.1    Sitcovsky, J.L.2    Mervis, C.3    Kistler, D.J.4    Wightman, F.L.5
  • 34
    • 33745720230 scopus 로고    scopus 로고
    • Williams-Beuren Syndrome: Research, Evaluation, and Treatment
    • In: Morris CA, Lenhoff HM, Wang PP, editors. Baltimore, MD: Johns Hopkins University Press.
    • Mervis CB. 2006. Language abilities in Williams-Beuren syndrome. In: Morris CA, Lenhoff HM, Wang PP, editors. Williams-Beuren Syndrome: Research, Evaluation, and Treatment. Baltimore, MD: Johns Hopkins University Press. pp. 159-206.
    • (2006) Language abilities in Williams-Beuren syndrome. , pp. 159-206
    • Mervis, C.B.1
  • 35
    • 77951537179 scopus 로고    scopus 로고
    • Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches
    • Mervis CB, John AE. 2010. Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches. Am J Med Genet Part C 154C:229-248.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 229-248
    • Mervis, C.B.1    John, A.E.2
  • 36
    • 0034043239 scopus 로고    scopus 로고
    • Williams syndrome: Cognition, personality, and adaptive behavior
    • Mervis CB, Klein-Tasmin BP. 2000. Williams syndrome: Cognition, personality, and adaptive behavior. Ment Retard Dev Disabil Res Rev 6:148-158.
    • (2000) Ment Retard Dev Disabil Res Rev , vol.6 , pp. 148-158
    • Mervis, C.B.1    Klein-Tasmin, B.P.2
  • 37
    • 33947169111 scopus 로고    scopus 로고
    • Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood
    • In: Mazzocco MM, Ross JL, editors. Cambridge, MA: MIT Press.
    • Mervis CB, Morris CA. 2007. Williams syndrome. In: Mazzocco MM, Ross JL, editors. Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood. Cambridge, MA: MIT Press. pp. 199-262.
    • (2007) Williams syndrome. , pp. 199-262
    • Mervis, C.B.1    Morris, C.A.2
  • 39
    • 0035111546 scopus 로고    scopus 로고
    • Adaptive behavior of 4 through 8-year-old children with Williams syndrome
    • Mervis CB, Klein-Tasman BP, Mastin M. 2001. Adaptive behavior of 4 through 8-year-old children with Williams syndrome. Am J Men Retard 10:82-93.
    • (2001) Am J Men Retard , vol.10 , pp. 82-93
    • Mervis, C.B.1    Klein-Tasman, B.P.2    Mastin, M.3
  • 42
    • 33745698871 scopus 로고    scopus 로고
    • Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behavior
    • Meyer-Lindenberg A, Mervis CB, Berman KF. 2006. Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behavior. Nat Rev Neurosci 7:380-393.
    • (2006) Nat Rev Neurosci , vol.7 , pp. 380-393
    • Meyer-Lindenberg, A.1    Mervis, C.B.2    Berman, K.F.3
  • 43
    • 37349101954 scopus 로고    scopus 로고
    • Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation type I in patients with hereditary disorders of connective tissue
    • Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. 2007. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg Spine 7:601-609.
    • (2007) J Neurosurg Spine , vol.7 , pp. 601-609
    • Milhorat, T.H.1    Bolognese, P.A.2    Nishikawa, M.3    McDonnell, N.B.4    Francomano, C.A.5
  • 44
    • 33745720230 scopus 로고    scopus 로고
    • Williams-Beuren Syndrome, Research, Evaluation, and Treatment
    • In: Morris CA, Lenhoff HM, Wang PP, editors. Baltimore, MD: The John Hopkins University Press.
    • Morris CA. 2006. Genotype-phenotype correlations in the Williams-Beuren syndrome. In: Morris CA, Lenhoff HM, Wang PP, editors. Williams-Beuren Syndrome, Research, Evaluation, and Treatment. Baltimore, MD: The John Hopkins University Press. pp. 59-82.
    • (2006) Genotype-phenotype correlations in the Williams-Beuren syndrome. , pp. 59-82
    • Morris, C.A.1
  • 45
    • 77951567594 scopus 로고    scopus 로고
    • Introduction: Williams syndrome
    • Morris CA. 2010a. Introduction: Williams syndrome. Am J Med Genet Part C 154C:203-208.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 203-208
    • Morris, C.A.1
  • 46
    • 81855216481 scopus 로고    scopus 로고
    • Management of Genetic Syndromes
    • In: Cassidy SB, Allanson JE, editors. 3rd edition. Hoboken, NJ: Wiley.
    • Morris CA. 2010b. Williams syndrome. In: Cassidy SB, Allanson JE, editors. Management of Genetic Syndromes. 3rd edition. Hoboken, NJ: Wiley. pp. 909-924.
    • (2010) Williams syndrome. , pp. 909-924
    • Morris, C.A.1
  • 50
    • 75449118703 scopus 로고    scopus 로고
    • Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content
    • Munoz KE, Meyer-Lindenberg A, Hariri AR, Mervis CB, Mattay VS, Morris CA, Berman KF. 2010. Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content. Neuroimage 50:340-346.
    • (2010) Neuroimage , vol.50 , pp. 340-346
    • Munoz, K.E.1    Meyer-Lindenberg, A.2    Hariri, A.R.3    Mervis, C.B.4    Mattay, V.S.5    Morris, C.A.6    Berman, K.F.7
  • 51
    • 34250853976 scopus 로고    scopus 로고
    • Rearrangements of the Williams-Beuren syndrome locus: Molecular basis and implications for speech and language development
    • Osborne LR, Mervis CB. 2007. Rearrangements of the Williams-Beuren syndrome locus: Molecular basis and implications for speech and language development. Expert Rev Mol Med 9:1-16.
    • (2007) Expert Rev Mol Med , vol.9 , pp. 1-16
    • Osborne, L.R.1    Mervis, C.B.2
  • 52
    • 74849117906 scopus 로고    scopus 로고
    • Williams-Beuren syndrome
    • Pober BR. 2010. Williams-Beuren syndrome. N Engl J Med 362:239-252.
    • (2010) N Engl J Med , vol.362 , pp. 239-252
    • Pober, B.R.1
  • 53
    • 0028942218 scopus 로고
    • Association of Chiari I malformation and Williams syndrome
    • Pober BR, Filiano JJ. 1995. Association of Chiari I malformation and Williams syndrome. Pediatr Neurol 12:84-88.
    • (1995) Pediatr Neurol , vol.12 , pp. 84-88
    • Pober, B.R.1    Filiano, J.J.2
  • 54
    • 0039102502 scopus 로고    scopus 로고
    • Distinct neurologic profile in Williams syndrome
    • Pober BR, Szekely AM. 1999. Distinct neurologic profile in Williams syndrome. Am J Hum Genet 65A:70.
    • (1999) Am J Hum Genet , vol.65 A , pp. 70
    • Pober, B.R.1    Szekely, A.M.2
  • 55
    • 0021259418 scopus 로고
    • The Williams syndrome: Objective definition and diagnosis
    • Preus M. 1984. The Williams syndrome: Objective definition and diagnosis. Clin Genet 25:422-428.
    • (1984) Clin Genet , vol.25 , pp. 422-428
    • Preus, M.1
  • 56
    • 0034044878 scopus 로고    scopus 로고
    • Neuroanatomy of Williams syndrome: A high resolution MRI study
    • Reiss AL, Eliez S, Schmitt JE, Strauss E. 2000. Neuroanatomy of Williams syndrome: A high resolution MRI study. J Cogn Neurosci 12:65-73.
    • (2000) J Cogn Neurosci , vol.12 , pp. 65-73
    • Reiss, A.L.1    Eliez, S.2    Schmitt, J.E.3    Strauss, E.4
  • 57
    • 77951542139 scopus 로고    scopus 로고
    • Mastery Motivation in Young Children With Williams Syndrome or Down Syndrome [Dissertation]
    • Louisville, KY: University of Louisville. UMI Microform 3267110.
    • Rowe ML. 2007. Mastery Motivation in Young Children With Williams Syndrome or Down Syndrome [Dissertation]. Louisville, KY: University of Louisville. pp. 131. UMI Microform 3267110.
    • (2007) , pp. 131
    • Rowe, M.L.1
  • 58
    • 76749115213 scopus 로고    scopus 로고
    • Just another face in the crowd: Evidence for decreased detection of angry faces in children with Williams syndrome
    • Santos A, Silva C, Rosset D, Deruelle C. 2010. Just another face in the crowd: Evidence for decreased detection of angry faces in children with Williams syndrome. Neuropsychologia 48:1071-1078.
    • (2010) Neuropsychologia , vol.48 , pp. 1071-1078
    • Santos, A.1    Silva, C.2    Rosset, D.3    Deruelle, C.4
  • 60
    • 0003520474 scopus 로고    scopus 로고
    • The Anxiety Disorders Interview Schedule for DSM-IV: Parent Interview Schedule
    • San Antonio, TX: Graywind Publications.
    • Silverman WK, Albano AM. 1996. The Anxiety Disorders Interview Schedule for DSM-IV: Parent Interview Schedule. San Antonio, TX: Graywind Publications.
    • (1996)
    • Silverman, W.K.1    Albano, A.M.2
  • 62
    • 0034648057 scopus 로고    scopus 로고
    • A componential view of theory of mind: Evidence from Williams syndrome
    • Tager-Flusberg H, Sullivan K. 2000. A componential view of theory of mind: Evidence from Williams syndrome. Cognition 76:59-89.
    • (2000) Cognition , vol.76 , pp. 59-89
    • Tager-Flusberg, H.1    Sullivan, K.2
  • 63
    • 0025736209 scopus 로고
    • A cognitive and behavioral phenotype in Williams syndrome
    • Udwin O, Yule W. 1990. A cognitive and behavioral phenotype in Williams syndrome. J Clin Exp Neuropsychol 13:232-244.
    • (1990) J Clin Exp Neuropsychol , vol.13 , pp. 232-244
    • Udwin, O.1    Yule, W.2
  • 65
    • 0031852751 scopus 로고    scopus 로고
    • Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome
    • van Lieshout CF, De Meyer RE, Curfs LM, Fryns JP. 1998. Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome. J Child Psychol Psychiatry 39:699-710.
    • (1998) J Child Psychol Psychiatry , vol.39 , pp. 699-710
    • van Lieshout, C.F.1    De Meyer, R.E.2    Curfs, L.M.3    Fryns, J.P.4
  • 66
    • 76549147679 scopus 로고
    • Mental retardation related to hypercalcemia
    • Von Arnim G, Engel P. 1964. Mental retardation related to hypercalcemia. Dev Med Child Neurol 6:366-377.
    • (1964) Dev Med Child Neurol , vol.6 , pp. 366-377
    • Von Arnim, G.1    Engel, P.2
  • 67
    • 0142216244 scopus 로고    scopus 로고
    • A theory of magnitude: Common cortical metrics of time, space and quantity
    • Walsh V. 2003. A theory of magnitude: Common cortical metrics of time, space and quantity. Trends Cogn Sci 7:483-488.
    • (2003) Trends Cogn Sci , vol.7 , pp. 483-488
    • Walsh, V.1
  • 68
    • 0026794990 scopus 로고
    • Specific neurobehavioral profile of Williams syndrome is associated with neocerebellar hemispheric preservation
    • Wang PP, Hesselink JR, Jernigan TL, Doherty S, Bellugi U. 1992. Specific neurobehavioral profile of Williams syndrome is associated with neocerebellar hemispheric preservation. Neurology 42:1999-2002.
    • (1992) Neurology , vol.42 , pp. 1999-2002
    • Wang, P.P.1    Hesselink, J.R.2    Jernigan, T.L.3    Doherty, S.4    Bellugi, U.5


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