Pediatric Neurology
Volume 32, Issue 3 , Pages 166-172 , March 2005

Williams syndrome: Pediatric, neurologic, and cognitive development

  • Ximena Carrasco, MD

      Affiliations

    • Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile & Servicio de Neurología, Hospital de niños Luis Calvo Mackenna, Santiago, Chile
    • Corresponding Author InformationCommunications should be addressed to: Dr. Aboitiz; Depto. Psiquiatría; Facultad de Medicina; Pontificia Universidad Católica de Chile; Marcoleta N°. 387 2° piso; Casilla 114-D Santiago 1, Chile.
  • ,
  • Silvia Castillo, MD

      Affiliations

    • Sección Genética, Hospital Clínico Universidad de Chile
  • ,
  • Teresa Aravena, MD

      Affiliations

    • Sección Genética, Hospital Clínico Universidad de Chile
  • ,
  • Paula Rothhammer, Ps

      Affiliations

    • Departamento de Psiquiatría, Pontificia Universidad Católica de Chile, Santiago, Chile
  • ,
  • Francisco Aboitiz, PhD

      Affiliations

    • Departamento de Psiquiatría, Pontificia Universidad Católica de Chile, Santiago, Chile

Received 3 June 2004 ,Accepted 30 September 2004.

References 

  1. Joyce CA , Zorich B , Pike SJ , Barber JCK , Dennis NR . Williams-Beuren syndrome (Phenotypic variability and deletions of chromosome 7 in a series of 52 patients) . J Med Genet . 1996;33:980–992
  2. Hirota H , Matsuoka R , Kimura M , Imamura S , Momma K . Molecular cytogenetics diagnosis of Williams syndrome . Am J Med Genet . 1996;64:473–477
  3. Meng X , Lu X , Green E , et al.   Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes . Hum Genet . 1998;103:590–599
  4. Wu YQ , Sutton VR , Nickerson E , et al.   Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity and parental origin . Am J Med Genet . 1998;78:82–89
  5. Metcalfe K , Rucka A , Smoot L , et al.   Elastin (Mutational spectrum in supravalvular aortic stenosis) . Eur J Hum Genet . 2000;8:955–963
  6. Osborne LR , Li M , Pober B , et al.   A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome . Nat Genet . 2001;29:321–325
  7. Burn J . Williams syndrome . J Med Genet . 1986;23:389–395
  8. Morris CA , Demsey SA , Leonard CO , Dilts C , Blackburn BL . Natural history of Williams syndrome (Physical characteristics) . J Pediatr . 1988;113:318–326
  9. Metcalfe K . Williams syndrome (An update on clinical and molecular aspects) . Arch Dis Child . 1999;81:198–200
  10. Johnson LB , Comeau M , Clarcke KD . Hyperacusis in Williams syndrome . J Otolaryngol . 2001;30:90–92
  11. American Academy of Pediatrics, Committee on Genetics . Health care supervision for children with Williams syndrome . Pediatrics . 2001;107:1192–1204
  12. Huang L , Sadler L , O’Riordan MA , Robin NH . Delay in diagnosis of Williams syndrome . Clin Pediatr (Phila) . 2002;41:257–261
  13. Lenhoff HM , Wang PP , Greenberg F , Bellugi U . Williams syndrome and the brain . Sci Amer . 1997;277:68–73
  14. Greer M , Brown F , Pai S , Choudry S , Klein A . Cognitive, adaptative and behavioral characteristics of Williams syndrome . Am J Med Genet . 1997;74:521–525
  15. Bellugi U , Lichtenberger L , Mills D , Galaburda A , Korenberg JR . Bridging cognition, the brain and molecular genetics (Evidence from Williams syndrome) . Trends Neurosci . 1999;22:197–207
  16. Donnai D , Karmiloff-Smith A . Williams syndrome (From genotype trough to the cognitive phenotype) . Am J Med Genet . 2000;97:164–171
  17. Bellugi U , Lichtenberger L , Jones W , Lai Z , St. George M . The cognitive profile of Williams Syndrome (A complex pattern of strengths and weaknesses) . In:  Bellugi U ,  St. George M editor. Journey from cognition to brain to gene (Perspectives from Williams Syndrome) . Cambridge, Massachusetts: MIT Press; 2001;p. 1–41
  18. Kaplan P , Wang PP , Francke U . Williams (Williams-Beuren) syndrome (A distinct neurobehavioral disorder) . J Child Neurol . 2001;16:177–190
  19. Schmitt JE , Eliez S , Bellugi U , Reiss AL . Analysis of cerebral shape in Williams syndrome . Arch Neurol . 2001;58:283–287
  20. Galaburda AM , Schmitt JE , Atlas SW , Eliez S , Bellugi U , Reiss AL . Dorsal forebrain anomaly in Williams syndrome . Arch Neurol . 2001;58:1865–1869
  21. Fernández-Álvarez E . Desarrollo psicomotor . In:  Fejerman N ,  Fernández-Álvarez E editor. Neurología pediátrica . Buenos Aires, Argentina: Editorial Médica Panamericana; 1997;p. 24–33
  22. Aravena T , Castillo S , Carrasco X , et al.   Síndrome de Williams (Estudio clínico, citogenético, neurofisiológico y neuroanatómico) . Rev Méd Chil . 2002;130:631–637
  23. Ludlow JR , Allen LM . The effect of early intervention and pre-school stimulus on the development of the Down’s syndrome child . J Ment Defic Res . 1979;23:29–44
  24. Bennett FC , Sells CJ , Brand C . Influences on measured intelligence in Down’s syndrome . Am J Dis Child . 1979;133:700–703
  25. Lashkari A , Smith AK , Graham JM . Williams-Beuren syndrome (An update review for the primary physician) . Clin Pediatr (Phila) . 1999;38:189–208
  26. Reiss AL , Eckert MA , Rose FE , et al.   An experiment of nature (Brain anatomy parallels cognition and behavior in Williams syndrome) . J Neurosci . 2004;24:5009–5015
  27. Meyer-Lindenberg A , Kohn P , Mervis CB , et al.   Neural basis of genetically determined visuospatial construction deficit in Williams syndrome . Neuron . 2004;43:623–631
  28. Mobbs D , Garrett AS , Menon V , Rose FE , Bellugi U , Reiss AL . Anomalous brain activation during face and gaze processing in Williams syndrome . Neurology . 2004;62:2070–2076
  29. Hirota H , Matsuoka R , Chen XN , et al.   Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 . Genet Med . 2003;5:311–321
  30. Makeyev AV , Erdenechimeg L , Mungunsukh O , et al.   GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats . Proc Natl Acad Sci U S A . 2004;101:11052–11057

PII: S0887-8994(04)00508-9

doi: 10.1016/j.pediatrneurol.2004.09.013

Pediatric Neurology
Volume 32, Issue 3 , Pages 166-172 , March 2005