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Neuropsychological profile of Italians with Williams syndrome: An example of a dissociation between language and cognition?

Published online by Cambridge University Press:  01 October 2004

STEFANO VICARI
Affiliation:
Children's Hospital Bambino Gesù, IRCCS, Rome, Italy Institute for Cognitive Sciences and Technologies, CNR, Rome, Italy University LUMSA, Rome, Italy
ELISABETH BATES
Affiliation:
University of California, San Diego, La Jolla, California
MARIA CRISTINA CASELLI
Affiliation:
Institute for Cognitive Sciences and Technologies, CNR, Rome, Italy University LUMSA, Rome, Italy
PATRIZIO PASQUALETTI
Affiliation:
AFaR-Fatebenefratelli Hospital, Isola Tiberina, Rome, Italy IRCCS “San Giovanni di Dio-Fatebenefratelli”, Brescia, Italy
CHIARA GAGLIARDI
Affiliation:
Eugenio Medea Institute, Bosisio Parini, Lecco, Italy
FRANCESCA TONUCCI
Affiliation:
Children's Hospital Bambino Gesù, IRCCS, Rome, Italy
VIRGINIA VOLTERRA
Affiliation:
Institute for Cognitive Sciences and Technologies, CNR, Rome, Italy

Abstract

Important claims have been made regarding the contrasting profiles of linguistic and cognitive performance observed in two genetically based syndromes, Williams syndrome (WS) and Down syndrome (DS). Earlier studies suggested a double dissociation, with language better preserved than nonverbal cognition in children and adults with WS, and an opposite profile in children and adults with DS. More recent studies show that this initial characterization was too simple, and that qualitatively different patterns of deficit observed within both language and visual–spatial cognition, in both groups. In the present study, large samples of children and adolescents with WS and age-matched DS are compared with typically developing (TD) controls matched to WS in mental age, on receptive and expressive lexical and grammatical abilities, semantic and phonological fluency, digit span and nonverbal visual–spatial span, and on 2 visual–spatial construction tasks. Study 1 confirmed distinct profiles of sparing and impairment for the 2 groups, within as well as between language and nonlinguistic domains, even after IQ variations were controlled. In Study 2 we compared performance of the children, adolescents and young adults with DS and WS included in the first study, divided on the basis of the chronological age of the participants (under 8 years; over 12 years). Although it is important to stress that these are cross-sectional rather than longitudinal data, the results demonstrated that the profile of younger children is different in respect to those of the older children; initial states of the system cannot be inferred by the final state. Possible neural substrates for these profiles and trajectories are discussed. (JINS, 2004, 10, 862–876.)

Type
Research Article
Copyright
© 2004 The International Neuropsychological Society

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References

Arnold, R., Yule, W., & Martin, N. (1985). The psychological characteristics of infantile hypercalcaemia: A preliminary investigation. Developmental Medicine and Child Neurology, 27, 4959.Google Scholar
Atkinson, J., Braddick, O., Anker, S., Curran, W., Andrew, R., Wattam-Bell, J., & Braddick, F. (2003). Neurobiological models of visuospatial cognition in children with Williams syndrome: Measures of dorsal-stream and frontal function. Developmental Neuropsychology, 23, 139172.Google Scholar
Atkinson, J., King, J., Braddick, O., Nokes, L., Anker, S., & Braddick, F. (1997). A specific deficit of dorsal stream function in Williams Syndrome. Neuroreport, 8, 19191922.Google Scholar
Atkinson, J., Shirley, L., Braddick, O., Mason, A., & Braddick, F. (2001). Visual and visuospatial development in young children with Williams syndrome. Developmental Medicine and Child Neurology, 43, 330337.Google Scholar
Baddeley, A D. (1986). Working memory. Oxford, UK: Oxford University Press.
Baddeley, A.D. & Hitch, G. (1974). Working memory. In G.H. Bower (Ed.), The psychology of learning and motivation (pp. 4790). New York: Academic Press.
Beery, K. (1997). Developmental tests of visual–motor integration. Parsippany, NJ: Modern Curriculum Press.
Bellugi, U., Bihrle, A., Jernigan, T., Trauner, D., & Doherty S. (1990). Neuropsychological, neurological and neuroanatomical profile of Williams Syndrome. American Journal of Medical Genetics (Suppl. 6), 115125.Google Scholar
Bellugi, U., Bihrle, A., Neville, H., Jernigan, T., & Doherty, S. (1996). Language, cognition and brain organization in a neurodevelopmental disorder. In M. Gunnar & C. Nelson (Eds.), Developmental behavioral neuroscience. Hillsdale, NJ: Erlbaum.
Bellugi, U., Koremberg, J.R., & Klima, E.S. (2001). Williams syndrome: An exploration of neurocognitive and genetic features. Clinical Neuroscience Research, 1, 217229.Google Scholar
Bellugi, U., Lichtenberger, L., Mills, D., Galaburda, A., & Koremberg, J.R. (1999a). Bridging cognition, the brain and molecular genetics: Evidence from Williams syndrome. Trends in Neuroscience, 22, 197207.Google Scholar
Bellugi, U., Mills, D., Jernigan, T., Hickok, G., & Galaburda, A. (1999b). Linking cognition, brain structure, and brain function in Williams syndrome. In H. Tager-Flusberg (Ed.), Neurodevelopmental disorders (pp. 111136). Cambridge, MA: MIT Press.
Bellugi, U. & St. George, M. (Eds). (2001). Journey from cognition to brain to gene. Perspectives from Williams syndrome. Cambridge MA: MIT Press.
Botta, A., Sangiuolo, F., Calza, L., Giardino, L., Potenza, S., Novelli, G., & Dallapiccola, B. (1999). Expression analysis and protein localization of the human HPC–1/syntaxin 1A, a gene deleted in Williams syndrome. Genomics, 15, 525528.Google Scholar
Bozzo, M.T. & Mansueto Zecca, G. (1993). Adattamento italiano della Scala d'Intelligenza Stanford-Binet Forma L-M nella revisione Terman-Merill [Italian adaptation of the Stanford-Binet Intelligence Scale, Form L-M in the Terman-Merill revision]. Firenze, Italy: Organizzazioni Speciali.
Chapman, R.S. (1995). Language development in children and adolescents with Down syndrome. In P. Fletcher & B. MacWhinney (Eds.), Handbook of child language (pp. 641663). Oxford, UK: Blackwell.
Courtney, S.M., Ungerleider, L.G., Keil, K., & Haxby, J.V. (1996). Object and visual working memory activate separate neural systems in human cortex. Cerebral Cortex, 6, 3949.Google Scholar
Devescovi, A. & Caselli, M.C. (2001). Una prova di ripetizione di frasi per la valutazione del primo sviluppo grammaticale [A test of phrase repetition to evaluate the early development of grammar]. Psicologia Clinica dello Sviluppo, 3, 341364.Google Scholar
Devescovi, A., Caselli, M.C., Ossella, T., & Alviggi, F.G. (1992). Strumenti di indagine sulle prime fasi dello sviluppo linguistico: Risultati di una prova di ripetizione di frasi con bambini fra i due e i tre anni e mezzo [Methods of enquiry into the early phases in linguistic development: Results of a sentence repetition test in 2–3.5-year-old children]. Rassegna di Psicologia, 2, 2954.Google Scholar
Dunn, Lloyd M. & Dunn, Leota M. (1981). Peabody Picture Vocabulary Test–Revised. Circle Pines, MN: American Guidance Service.
Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M., & Keating, M.T. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics, 5, 1116.Google Scholar
Fabbretti, D., Pizzuto, E., Vicari, S., & Volterra, V. (1997). A story description task in children with Down syndrome: Lexical and morphosyntactic abilities. Journal of Intellectual Disabilities Research, 41, 165179.Google Scholar
Fabbro, F., Alberti, A., Gagliardi, C., & Borgatti, R. (2002). Differences in native and foreign language repetition task between subjects with Williams and Down syndromes. Journal of Neurolinguistics, 15, 110.Google Scholar
Frangiskakis, J.M., Ewart, A.K., Morris, C.A., Mervis, C.B., Bertrand, J., Robinson, B.F., Klein, B.P., Ensing, G.J., Everett, L.A., & Green, E.D. (1996). LIM-Kinase-1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86, 5969.Google Scholar
Gosh, A., Stading, G., & Pankau, R. (1994). Linguistic abilities in children with Williams-Beuren syndrome. American Journal of Medical Genetics, 52, 291296.Google Scholar
Grant, J., Karmiloff-Smith, A., Gathercole, S.E., Paterson, S., Howlin, P., Davies, M., & Udwin, O. (1997). Phonological short-term memory and its relationship to language in Williams Syndrome. Journal of Cognitive Neuropsychiatry, 2, 8199.Google Scholar
Jarrold, C., Baddeley, A.D., & Hewes, A.K. (1999). Genetically dissociated components of working memory: Evidence from Down and Williams syndrome. Neuropsychologia, 37, 637651.Google Scholar
Jernigan, T.L., Bellugi, U., Sowell, E., Doherty, S., & Hesselink, J.R. (1993). Cerebral morphologic distinction between Williams and Down syndromes. Archives of Neurology, 50, 186191.Google Scholar
Karmiloff-Smith, A. (1998). Development itself is the key to understanding developmental disorders. Trends in Cognitive Sciences, 2, 289298.Google Scholar
Karmiloff-Smith, A., Brown, J.H., Grice, S., & Paterson, S. (2003). Dethroning the myth: Cognitive dissociations and innate modularity in Williams syndrome. Developmental Neuropsychology, 23, 227242.Google Scholar
Karmiloff-Smith, A., Grant, J., Berthoud, I., Davis, M., Howlin, P., & Udwin, O. (1997). Language and Williams syndrome: How intact is “intact”? Child Development, 68, 246262.Google Scholar
Karmiloff-Smith, A., Tyler, L.K., Voice, K., Sims, K., Udwin, O., Howlin, P., & Davis, M. (1998). Linguistic dissociations in Williams syndrome: Evaluating receptive syntax in on-line and off-line tasks. Neuropsychologia, 36, 343351.Google Scholar
Klein, B.P. & Mervis, C.B. (1999). Cognitive strength and weaknesses of 9- and 10-year-olds with Williams syndrome or Down syndrome. Developmental Neuropsychology, 16, 177196.Google Scholar
Majerus, S., Barisnikov, K., Vuillemin, I., Poncelet, M., & Van der Linden, M. (in press). An investigation of verbal short-term memory and phonological processing in four children with Williams syndrome. Neurocase.
Mervis, C.B., Morris, C.A., Bertrand, J., & Robinson, B.F. (1999). Williams syndrome: Findings from an integrated program of research. In H. Tager-Flusberg (Ed.), Neurodevelopmental disorders (pp. 65110). Cambridge, MA: MIT Press.
Mervis, C.B. & Robinson, B.R. (2000). Cognitive strength and weaknesses of 9- and 10-year-olds with Williams syndrome or Down syndrome. Developmental Neuropsychology, 16, 177196.Google Scholar
Miller, J.F. (1988). The developmental asynchrony of language development in children with Down syndrome. In L. Nadel (Ed.), Psychobiology of Down syndrome (pp. 167198). Cambridge, MA: MIT Press.
Miller, J.F. (1992). Development of speech and language in children with Down syndrome. In I.T. Lott & E.E. McLoy (Eds.), Down syndrome (pp. 3950). New York: Wiley-Liss.
Nelson, C.A., Monk, C.S., Lin, J., Carver, L.J., Thomas, K.M., & Truwit, C.L. (2000). Functional neuroanatomy of spatial working memory in children. Developmental Psychology, 36, 109116.Google Scholar
Nicholas, L., Brookshire, R., Mc Lennan, D., Schumacher, J., & Porrazzo, S. (1989). Revised administration and scoring procedures for the Boston Naming Test and norms for non-brain-damaged adults. Aphasiology, 3, 569580.Google Scholar
Orsini, A., Grossi, D., Capitani, E., Laiacona, M., Papagno, C., & Vallar, G. (1987). Verbal and spatial immediate memory span: Normative data from 1355 adults and 1112 children. Italian Journal of Neurological Sciences, 6, 539548.Google Scholar
Papagno, C. & Vallar, G. (2001). Understanding metaphors and idioms: A single-case neuropsychological study in a person with Down syndrome. Journal of the International Neuropsychological Society, 7, 516528.Google Scholar
Paterson, S., Brown, J.H., Gsodl, M.K., Johnson, M.C., & Karmiloff-Smith, A. (1999, December). Cognitive modularity and genetic disorders. Science, 286, 23552358.Google Scholar
Pezzini, G., Vicari S., Volterra V., Milani L., &Ossella M.T. (1999). Children with Williams syndrome: Is there a unique neuropsychological profile? Developmental Neuropsychology, 15, 141155.Google Scholar
Piattelli-Palmarini, M. (2001). Speaking of learning. Nature, 411, 887888.Google Scholar
Rae, C., Karmiloff-Smith, A., Lee, M.A., Dixon, R.M, Grant, J., Blamire, A.M., Thompson, C.H., Styles, P., & Radda, G.K. (1998). Brain biochemistry in Williams syndrome: Evidence for a role of the cerebellum in cognition. Neurology, 51, 3340.Google Scholar
Reilly, J., Klima, E.S., & Bellugi, U. (1990). Once more with feeling: Affect and language in atypical populations. Development and Psychopathology, 2, 367391.Google Scholar
Reiss, A.L., Eliez, S., Schmitt, J.E., & Straus, E. (2000). Neuroanatomy of Williams syndrome: A high-resolution MRI study. Journal of Cognitive Neuroscience, 12, 6573.Google Scholar
Riva, D., Nichelli, F., & Devoti, M. (2000). Developmental aspects of verbal fluency and confrontation naming in children. Brain and Language, 71, 267284.Google Scholar
Rondal, J.A. (1995). Exceptional language development in Down syndrome. Cambridge, UK: Cambridge University Press.
Rondal, J.A., Ghiotto, M., Brédart, S., & Bachelet, J.F. (1988). Mean length of utterance of children with Down syndrome. American Journal on Mental Retardation, 93, 6466.Google Scholar
Rubba, J. & Klima, E.S. (1991). Preposition use in a speaker with Williams Syndrome: Some cognitive grammar proposals. Center for Research in Language Newsletter, 3, 312.Google Scholar
Rustioni, D. (1994). Sviluppo della comprensione linguistica nei bambini italiani. Presentazione di una scala evolutiva [Development of grammar comprehension in Italian children. Presentation of an evolutionary scale]. In C. Cornoldi & R. Vianello (Eds.), Handicap e apprendimento (pp. 3553). Bergamo, Italy: Junior Ed.
Singer-Harris, N.G., Bellugi, U., Bates, E., Jones, W., & Rossen, M. (1997). Contrasting profiles of language in children with Williams and Down syndromes. Developmental Neuropsychology, 13, 345370.Google Scholar
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 magnetic resonance imaging analysis. Neuroreport, 13, 15.Google Scholar
Udwin, O. & Yule, W. (1990). Expressive language of children with Williams syndrome. American Journal of Medical Genetics (Suppl. 6), 108114.Google Scholar
Vallar, G. & Papagno, C. (1993). Preserved vocabulary acquisition in Down syndrome children: The role of phonological short-term memory. Cortex, 29, 467483.Google Scholar
Vender, C., Borgia, R., Bruno, S., Freo, P., & Zardini, G. (1981). Un test di ripetizione di frasi. Analisi delle performances in bambini normali [A test of sentence repetition. Analysis of performance in normal children]. Giornale di Neuropsichiatria Infantile, 243–244, 819831.Google Scholar
Vicari, S., Bellucci, S., & Carlesimo, G.A. (2001). Procedural learning deficit in children with Williams syndrome. Neuropsychologia, 39, 665677.Google Scholar
Vicari, S., Bellucci, S., & Carlesimo, G.A. (2003). Visual and spatial working memory dissociation: Evidence from a genetic syndrome. Developmental Medicine and Child Neurology, 45, 269273.Google Scholar
Vicari, S., Brizzolara, D., Carlesimo, A., Pezzini, G., & Volterra, V. (1996a). Memory abilities in children with Williams syndrome. Cortex, 32, 503514.Google Scholar
Vicari, S., Carlesimo, A., Brizzolara, D., & Pezzini, G. (1996b). Short-term memory in children with Williams syndrome: A reduced contribution of lexical–semantic knowledge to word span. Neuropsychologia, 34, 919925.Google Scholar
Vicari, S., Caselli, M.C., Gagliardi, C., Tonucci, F., & Volterra, V. (2002). Language acquisition in special populations: A comparison between Down and Williams syndromes. Neuropsychologia, 40, 24612470.Google Scholar
Vicari, S., Caselli, M.C., & Tonucci, F. (2000). Asynchrony of lexical and morphosyntactic development in children with Down syndrome. Neuropsychologia, 38, 634644.Google Scholar
Volterra, V., Capirci, O., Pezzini, G., Sabbadini, L., & Vicari, S. (1996). Linguistic abilities in Italian children with Williams syndrome. Cortex, 32, 663677.Google Scholar
Volterra, V., Longobardi, E., Pezzini, G., Vicari, S., & Antenore, C. (1999). Visuo–spatial and linguistic abilities in a twin with Williams syndrome. Journal of Intellectual Disability Research, 43, 294305.Google Scholar
Wang, P.P. & Bellugi, U. (1994). Evidence from two genetic syndromes for dissociation between verbal and visual–spatial short-term memory. Journal of Clinical Experimental Neuropsychology, 16, 317322.Google Scholar
Wechsler, D. (1986). WISC–R–Scala di intelligenza Wechsler per bambini, riveduta [WISC–R–Wechsler Intelligence Scale for Children, revised]. Florence, Italy: Organizzazioni Speciali.
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Neuropsychological profile of Italians with Williams syndrome: An example of a dissociation between language and cognition?
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