Neurological soft signs feature a double dissociation within the language system in Williams syndrome

Neuropsychologia

Volumn 48, Issue 11, 2010, Pages 3298-3304

  Tavano, Alessandro ^a   Gagliardi, Chiara ^a   Martelli, Sara ^a   Borgatti, R ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

Author keywords

Basal ganglia; Cerebellum; Cognition; Neurological signs; Visuospatial skills; Williams Beuren syndrome

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; ATTENTION; CEREBELLUM DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMMUNICATION SKILL; COMPREHENSION; CONTROLLED STUDY; DEPTH PERCEPTION; DYSMETRIA; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; FEMALE; HUMAN; LANGUAGE ABILITY; MALE; MOTONEURON; NEUROLOGIC DISEASE; WILLIAMS BEUREN SYNDROME;

EID: 77955846238     PISSN: 00283932     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuropsychologia.2010.07.013     Document Type: Article

References (73)

1. Beery K.E. VMI-developmental test of visuo-motor integration 2000, OS, Firenze, Italy.
2. Bellugi U., Lichtenberger L., Jones W., Lai Z., St.George M.I. The neurocognitive profile of Williams syndrome: A complex pattern of strengths and weaknesses. Journal of Cognitive Neuroscience 2000, 12:7-29.
3. Beuren A.J., Apitz J., Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962, 26:1235-1240.
4. Campbell L.E., Daly E., Toal F., Stevens A., Azuma R., Karmiloff-Smith A., et al. Brain structural differences associated with the behavioural phenotype in children with Williams syndrome. Brain Research 2009, 1258:96-107.
5. Casey B.J., Epstein J.N., Buhle J., Liston C., Davidson M.C., Tonev S.T., et al. Frontostriatal connectivity and its role in cognitive control in parent-child dyads with ADHD. American Journal of Psychiatry 2007, 164:1729-1736.
6. Cattaneo L., Fabbri-Destro M., Boria S., Pieraccini C., Monti A., Cossu G., et al. Impairment of actions chains in autism and its possible role in intention understanding. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:17825-17830.
7. Chapman C.A., du Plessis A., Pober B.R. Neurologic findings in children and adults with Williams syndrome. Journal of Child Neurology 1996, 11:63-65.
8. Cherniske E.M., Carpenter T.O., Klaiman C., Young E., Bregman J., Insogna K., et al. Multisystem study of 20 older adults with Williams syndrome. American Journal of Medical Genetics A 2004, 131:255-264.
9. Chiang M.-C., Reiss A., Lee A., Bellugi U., Galaburda A., Korenberg J., et al. 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry. Neuroimage 2007, 36:1096-1109.
10. Cohen D. Statistical power analysis for the behavioral sciences 1988, Lawrence Earlbaum Associates, Hillsdale, NJ.
11. Corsi, P. M. (1972). Human memory and the medial temporal region of the brain. Unpublished Ph.D. thesis. CA: McGill University.
12. Denckla M.B. Revised neurological examination for subtle signs. Psychopharmacology Bulletin 1985, 24:773-778.
13. De Renzi E., Faglioni P. Normative data and screening. Power of a shortened version of the token test. Cortex 1978, 14:41-49.
14. Doyle T.F., Bellugi U., Korenberg J.R., Graham J. Everybody in the world is my friend: Hypersociability in young children with Williams syndrome. American Journal of Medical Genetics A 2004, 124:263-273.
15. Dunn L.M., Dunn L.M. Peabody test di vocabolario ricettivo. P.P.V.T.-R. Peabody Picture Vocabulary Test-Revised 2000, Omega, Torino, Italy.
16. Eckert M.A., Galaburda A.M., Mills D.L., Bellugi U., Korenberg J.R., Reiss A.L. The neurobiology of Williams syndrome: Cascading influences of visual system impairment?. Cellular and Molecular Life Sciences 2006, 63:1867-1875.
17. Fabbro F., Tavano A., Corti S., Bresolin N., De Fabritiis P., Borgatti R. Long-term neuropsychological deficits after cerebellar infarctions in two young adult twins. Neuropsychologia 2004, 42:536-545.
18. Frigerio E., Burt D.M., Gagliardi C., Cioffi G., Martelli S., Perrett D.I., et al. Is everybody always my friend? Perception of approachability in Williams syndrome. Neuropsychologia 2006, 44:254-259.
19. Gagliardi C., Frigerio E., Burt D.M., Cazzaniga I., Perrett D.I., Borgatti R. Facial expression recognition in Williams syndrome. Neuropsychologia 2003, 41:733-738.
20. Gagliardi C., Martelli S., Burt M.D., Borgatti R. Evolution of neurologic features in Williams syndrome. Pediatric Neurology 2007, 36:301-306.
21. Grant J., Valian V., Karmiloff-Smith A. A study of relative clauses in Williams syndrome. Journal of Child Language 2002, 29:403-416.
22. Hocking D.R., Bradshaw J.L., Rinehart N.J. Fronto-parietal and cerebellar contributions to motor dysfunction in Williams syndrome: A review and future directions. Neuroscience Biobehavioural Reviews 2008, 32:497-507.
23. Jackowski A.P., Rando K., de Araùjo C.M., Grego del Cole C., Silva I., Tavares de Lacerda A.L. Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings. European Journal of Pediatric Neurology 2009, 13:305-316.
24. Järvinen-Pasley A., Bellugi U., Reilly J., Mills D.L., Galaburda A., Reiss A., et al. Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior. Developmental Psychopathology 2008, 20:1-35.
25. Jones W., Hesselink J., Courchesne E., Duncan T., Matsuda K., Bellugi U. Cerebellar abnormalities in infants and toddlers with Williams syndrome. Developmental Medicine and Child Neurology 2002, 44:688-694.
26. Justus T. The cerebellum and english grammatical morphology: Evidence from production, comprehension, and grammaticality judgments. Journal of Cognitive Neuroscience 2004, 16:1115-1130.
27. Justus T, Ravizza S.M., Fiez A.J., Ivry R.B. Reduced phonological similarity effects in patients with damage to the cerebellum. Brain and Language 2005, 95:304-318.
28. Karmiloff-Smith A. Atypical epigenesis. Developmental Science 2007, 10:84-88.
29. Karmiloff-Smith A., Grant J., Ewing S., Carette M.J., Metcalfe K., Donnai D., et al. Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. Journal of Medical Genetics 2003, 40:136-140.
30. Korenberg J.R., Chen X.N., Hirota H., Lai Z., Bellugi U., Burian D., et al. Genome structure and cognitive map of Williams syndrome. Journal of Cognitive Neuroscience 2000, 12:89-107.
31. Kotz S.A., Frisch S., von Cramon D.Y., Friederici A.D. Syntactic language processing: ERP lesion data on the role of the basal ganglia. Journal of the International Neuropsychological Society 2003, 9:1053-1060.
32. Kotz S.A., Schwartze M., Schmidt-Kassow M. Non-motor basal ganglia functions: A review and proposal for a model of sensory predictability in auditory language perception. Cortex 2008, 10.1016/j.cortex.2009.02.010.
33. Leggio M.G., Silveri M.C., Petrosini L., Molinari M. Phonological grouping is specifically affected in cerebellar patients: A verbal fluency study. Journal of Neurology, Neurosurgery and Psychiatry 2000, 69:102-106.
34. Levisohn L., Cronin-Golomb A., Schmahmann J.D. Neuropsychological consequences of cerebellar tumor resection in children. Cerebellar cognitive affective syndrome in a paediatric population. Brain 2000, 123:1041-1050.
35. Lowery M.C., Morris C.A., Ewart A., Brothman L.J., Zhu X.L., Leonard C.O., et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome. American Journal of Human Genetics 1995, 57:49-53.
36. Marenco S., Siuta M.A., Kippenhan J.S., Grodofsky S., Chang W.L., Kohn P., et al. Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:15117-15122.
37. Martens M.A., Wilson S.J., Reutens D.C. Research review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry 2008, 49:576-608.
38. Mervis C.B., Becerra A.M. Language and communicative development in Williams syndrome. Mental Retardation and Developmental Disabilities Research Review 2007, 13:3-15.
39. Meyer-Lindenberg A., Hariri A.R., Munoz K.E., Mervis C.B., Mattay V.S., Morris C.A., et al. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nature Neuroscience 2005, 8:991-993.
40. Meyer-Lindenberg A., Kohn P., Mervis C.B., Kippenhan J.S., Olsen R.K., Morris C.A., et al. Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron 2004, 43:623-631.
41. Meyer-Lindenberg A., Mervis C.B., Berman K.F. Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behaviour. Nature Reviews Neuroscience 2006, 7:380-393.
42. Meyer-Lindenberg A., Mervis C.B., Sarpal D., Koch P., Steele S., Kohn P., et al. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. Journal of Clinical Investigation 2005, 115:1888-1895.
43. Morris C.A., Demsey S.A., Leonard C.O., Dilts C., Blackburn B.L. Natural history of Williams syndrome: Physical characteristics. Journal of Pediatrics 1988, 113:318-326.
44. Williams-Beuren syndrome: Research, Evaluation, and Treatment 2006, Johns Hopkins UP, Baltimore. C.A. Morris, H.M. Lenhoff, P.P. Wang (Eds.).
45. Phillips C.E., Jarrold C., Baddeley A.D., Grant J., Karmiloff-Smith A. Comprehension of spatial language terms in Williams syndrome: Evidence for an interaction between domains of strength and weakness. Cortex 2004, 40:85-101.
46. Plante E., Boliek C., Mahendra N., Story J., Glaspey K. Right hemisphere contribution to developmental language disorders. Neuroanatomical and behavioural evidence. Journal of Communication Disorders 2001, 34:415-436.
47. Pléh C., Lukács A., Racsmány M. Morphological patterns in Hungarian children with Williams syndrome and the rule debates. Brain and Language 2002, 86:377-383.
48. Ravizza S.M., McCormick A.C., Schlerf J.E., Justus T., Ivry R.B., Fiez J.A. Cerebellar damage produces selective deficits in verbal working memory. Brain 2006, 129:306-320.
49. Reiss A.L., Eliez S., Schmitt J.E., Straus E., Lai Z., Jones W, et al. Neuroanatomy of Williams syndrome: A high-resolution MRI study. Journal of Cognitive Neuroscience 2000, 12:65-73.
50. Riva D., Giorgi C. The cerebellum contributes to higher functions during development. Evidence from a series of children surgically treated for posterior fossa tumors. Brain 2000, 123:1051-1061.
51. Riva D., Nichelli F., Devoti M. Developmental aspects of verbal fluency and confrontation naming in children. Brain and Language 2000, 71:267-284.
52. Robinson B.F., Mervis C.B., Robinson B.W. Roles of verbal short-term memory and working memory in the acquisition of grammar by children with Williams syndrome. Developmental Neuropsychology 2003, 23:13-31.
53. Rodd J.M., Davis M.H., Johnsrude I.S. The neural mechanisms of speech comprehension: fMRI studies of semantic ambiguity. Cerebral Cortex 2005, 15:1261-1269.
54. Schmahmann J.D. Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. Journal of Neuropsychiatry and Clinical Neuroscience 2004, 16:367-378.
55. Schmitt J.R, Eliez S., Warsofsky I.S., Bellugi U., Reiss A.L. Corpus callosum morphology of Williams syndrome: Relation to genetics and behaviour. Developmental Medicine and Child Neurology 2001, 43:155-159.
56. Shane Kippenhan J., Olsen R.K., Mervis C.B., Morris C.A., Kohn P., Meyer-Lindenberg A., et al. Genetic contributions to human gyrification: Sulcal morphometry in Williams syndrome. Journal of Neuroscience 2005, 25:7840-7846.
57. Silveri C., Leggio M.G., Molinari M. The cerebellum contributes to language production: A case of agrammatic speech following a right cerebellar lesion. Neurology 1993, 44:2047-2050.
58. Strømme P., Bjørnstad P.G., Ramstad K. Prevalence estimation of Williams syndrome. Journal of Child Neurology 2002, 17:269-271.
59. Tassabehji M., Metcalfe K., Karmiloff-Smith A., Carette M.J., Grant J., Dennis N., et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotype. American Journal of Human Genetics 1999, 64:118-125.
60. Tavano A., Borgatti R. Evidence for a link among cognition, language and emotion in cerebellar malformations. Cortex 2009, 10.1016/j.cortex.2009.07017.
61. Tavano A., Fabbro F., Borgatti R. Speaking without the cerebellum: Language skills in a young adult with near total absence of the cerebellum. Mental states: Evolution, function nature 2007, 171-189. John Benjamin, Amsterdam. A. Schalley, D. Khlentzos (Eds.).
62. Tavano A., Grasso R., Gagliardi C., Triulzi F., Bresolin N., Fabbro F., et al. Disorders of cognitive and affective development in cerebellar malformations. Brain 2007, 130:2646-2660.
63. Tettamanti M., Moro A., Messa C., Moresco R.M., Rizzo G., Carpinelli A., et al. Basal ganglia and language: Phonology modulates dopaminergic release. Neuroreport 2005, 16:397-401.
64. Thompson P.M., Lee A.D., Dutton R.A., Geaga J.A., Hayashi K.M., Eckert M.A., et al. Abnormal cortical complexity and thickness profiles mapped in William syndrome. Journal of Neuroscience 2005, 25:4146-4158.
65. Touwen B.C.L. Examination of the child with minor neurologic dysfunction 1979, Heinemann Medical Books, London.
66. Ullman M.T. Contributions of memory circuits to language: The declarative/procedural model. Cognition 2004, 92:231-270.
67. Vender C., Borgia R., Cumer Bruno S., Freo P., Zardini G. Un test di ripetizione di frasi. Analisi delle performances di bambini normali. Neuropsichiatria Infantile 1981, 243:819-831.
68. Vicari S., Bates E., Caselli M.C., Pasqualetti P., Gagliardi C., Tonucci F., et al. Neuropsychological profile of Italians with Williams syndrome: An example of a dissociation between language and cognition?. Journal of the International Neuropsychological Society 2004, 10:862-876.
69. Vicari S., Verucci L., Carlesimo G.A. Implicit memory is independent from IQ and age but not from etiology: Evidence from Down and Williams syndromes. Journal of Intellectual Disabilities Ressearch 2007, 51:932-941.
70. Wang P.P., Bellugi U. Evidence from two genetic syndromes for a dissociation between verbal and visual-spatial short-term memory. Journal of Clinical and Experimental Neuropsychology 1994, 16:317-322.
71. Wechsler D. Wechsler preschool and primary scale of intelligence (WPPSI) 1973, OS, Firenze, Italy.
72. Wechsler D. Wechsler intelligence scale for children-revised (WISC-R) 1986, OS, Firenze, Italy.
73. Williams J.C., Barratt-Boyes B.G., Lowe J.B. Supravalvular aortic stenosis. Circulation 1961, 24:1311-1318.