Le langage comme cadre pour aborder chromosomopathies a faible prevalence
DOI
https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.22Info
Résumé
Les connaissances sur les chromosomopathies et leurs manifestations phénotypiques sont assez vastes, en particulier en ce qui concerne les troubles à prévalence élevée, pour ceux qui travaillent depuis des années sur des protocoles standard pour le diagnostic précoce, l’intervention psychologique et l’orthophonie. La même chose ne se produit pas avec les altérations chromosomiques de prévalence inférieure, généralement incluses dans de vastes catalogues de maladies rares, bien qu'elles entraînent également des déficiences cognitives et linguistiques importantes. Ce fait suppose une grande pierre d'achoppement pour l'action efficace et coordonnée entre spécialistes des traitements destinés à accroître les compétences communicatives et linguistiques de cette population. En ce sens, l'interprétation du langage en tant qu'instrument de communication sociale, mais aussi en tant que système de représentation individuelle dans lequel sont projetés les principaux mécanismes de la cognition, justifie une approche de tous ceux-ci, en considérant le fonctionnement linguistique comme un axe essentiel.
Mots-clés
Téléchargements
Comment citer
Licence
Ce travail est disponible sous licence Creative Commons Attribution - Pas d'Utilisation Commerciale - Pas de Modification 4.0 International.
Références
BALCI, T. B. et al. (2018): “Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor sindrome”, American Journal of Medical Genetics, 177B, pp. 101-109.
BARSALOU, L. W. (1999): “Perceptual and symbol systems”, Behavioral and Brain Sciences, 22, pp. 577-660.
BARSALOU, L. W. (2008): “Grounded Cognition”, Annual Review of Psychology, 59, pp. 617-45.
BENÍTEZ BURRACO, A. & BOECKX, C. (2015): “Approaching motor and language deficits in autism from below: a biolinguistic perspective”, Frontiers in Integrative Neuroscience, 9 (25), pp. 1-4.
BENNETT, M. R. & HACKER, P. M. S. (2006): “Language and cortical function: conceptual developments”, Progress in Neurobiology, 80, pp. 20-52.
BINDER, J. R. et al. (2009): “Where is the Semantic System? A Critical Review and Meta-Analysis of 120 Functional Neuroimaging Studies”, Cerebral Cortex, 19, pp. 2767-2796.
BROUWER, H. et al. (2017): “A Neurocomputational Model of the N400 and the P600 in Language Processing”, Cognitive Science, 41 (6), pp. 1318-1352.
BUTLER, M. G. et al. (2005): “Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations”, Journal of Medical Genetics, 42, pp. 318-321.
CARAMAZZA, A. & MAHON, B. Z. (2003): “The organization of conceptual knowledge: the evidence from category-specific semantic deficits”, Trends in Cognitive Sciences, 7 (8), pp. 354-361.
CARAMAZZA, A. et al. (1990): “The multiple semantics hypothesis: Multiple confusion?”, Cognitive Neuropsychology, 7, pp. 161-189.
CASASANTO, D. & LUPYAN, G, (2015): “All concepts are ad hoc”, Margolis, E. & Laurence, S. (eds.): The Conceptual Mind: New directions in the Study of Concepts, Cambrigde, MA: MIT Press, pp. 543-566.
CHATER, N. & CRISTIANSEN, M. H. (2010): “Language Acquisition Meets Language Evolution”, Cognitive Science, 34, pp. 1131–1157.
CHOMSKY, N. (1965): Aspects of the theory of Syntax, Cambridge, MA: MIT Press.
CHOMSKY, N. (1988): Language and problems of knowledge, Cambridge, MA: MIT Press.
CORBALLIS, M. C. (2017): “Language Evolution: A Changing Perspective”, Trends in cognitive Science, 21 (4), pp. 229-236.
CREE, G. S.; McRAE, K. & McNORGAN, C. (1999): “An attractor model of lexical conceptual processing: simulating semantic priming”, Cognitive Science, 23 (3), pp. 371-414.
DEACON, T. (1997): The Symbolic Species, The co-evolution of language and the brain, New York: Norton.
CUPPINI, C.; MAGOSSO, E. & URSINO, M. (2009): “A neural network model of semantic memory linking feature-based object representation and words”, BioSystems, 96, pp. 195–205.
ELMAN, J. L. (2004): “An alternative view of the mental lexicon”, Trends in Cognitive Sciences, 8 (7), pp. 310-306.
ELMAN, J. L. (2009): “On the meaning of words and dinosaur bones: Lexical knowledge without a lexicon”, Cognitive Science, 33 (4), pp. 547-582.
GARDNER, H. (1983): Frames of Mind. The Theory of Multiple Intellingences, New York: Basic Books.
GENTNER, D. & GOLDIN-MEADOW, S. (eds.) (2003): Language in Mind. Advances in the Study of Language and Thought, Cambridge, MA: MIT Press.
GLENBERG, A. M. & GALLESE, V. (2012): “Action-based Language: a theory of language acquisition, comprehension, and production”, Cortex, 48, pp. 905-922.
HAUSER, M. et al. (2014): “The mystery of language evolution”, Frontiers in Psychology, 5, pp. 1-12.
HEBB, D. (1949): The Organization of Behavior: a Neuropsychological Theory, New York: John Wiley & Sons.
HICKOK, G. & POEPPEL, D. (2004): “Dorsal and ventral streams: a framework for understanding aspects of the functional anatomy of language”, Cognition, 92, pp. 67-99.
HICKOK, G. & POEPPEL, D. (2007): “The cortical organization of speech processing”, Nature Reviews Neuroscience, 8, pp. 393-402.
HILL, E. L. (1998): “A dyspraxic déficit in specific language impairment and developmental coordination disorder? Evidence from hand and arm movements”, Developmental Medicine & Child Neurology, 40, pp. 388-395.
HODGES, J. R. & PATTERSON, K. (2007): “Semantic dementia: a unique clinicopathological syndrome”, Lancet Neurology, 6, 11, pp. 1004-1014.
HOPPER, P. J. (1998): “Emergent Grammar”, Tomasello, M. (ed.): The New Psychology of Language. Cognitive and Functional Approaches to Language Structure, New Jersey: Lawrence Erlbaum, pp. 155-175.
JACKENDOFF, R. S. (2002): Foundations of Language: Brain, Meaning, Grammar, and Evolution, Oxford: Oxford University Press.
KARMILOFF-SMITH, A. (1992): Beyond Modularity: A Developmental Perspective on Cognitive Science, Cambridge: MIT Press.
KARMILOFF-SMITH, A. (1998): “Development itself is the key to understanding developmental disorders”, Trends in Cognitive Science, 2, pp. 389-398.
KIEFER, M. & PULVERMÜLLER, F. (2012): “Conceptual representations in mind and brain: Theoretical developments, current evidence and future directions”, Cortex, 48, pp. 805-825.
KURATA, H. et al. (2018): “Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analisis”, Brain & Development, 40, pp. 36-41.
KUTAS, M. & FEDERMEIER, K. (2000): “Electrophysiology reveals semantic memory use in language comprehension”, Trends in Cognitive Sciences, 4, 12, pp. 463-470.
LAMB, S. (1999): Pathways of the brain. The neurocognitive basis of language, Amsterdam / Philadelphia: John Benjamins.
LAMB, S. & WEBSTER, J. (eds.) (2004): Language and Reality. Writings by Sydney Lamb, London: Continuum International Publishing.
LEISMAN, G.; MOUSTAFA, A. A. & SHAFIR, T. (2016): “Thinking, Walking, Talking: Integratory Motor and Cognitive Brain Function”, Frontiers in Public Health, 4 (94), pp. 1-19.
LESLIE, N. R. & LONGY, M. (2016): “Inherited PTEN mutations and the prediction of phenotype”, Seminars in Cell & Developmental Biology, 52, pp. 30-38.
MacWHINNEY, B. (ed.) (1999): The Emergence of Language, N. Jersey / N. York: Lawrence Erlbaum.
MARIN, O. S. M. (1982): “Brain and Language; The Rules of the Game”, Arbib, M.; Caplan, D. & Marshall, J. C. (eds.): Neural models of language processes, London: Academic Press, pp. 45-69.
MARTÍN FERNÁNDEZ-MAYORALAS, D. et al. (2007): “Síndrome de Banayan-Riley-Ruvalcaba: a propósito de un caso”, Acta Pediátrica Española, 65 (10), pp. 519-523.
MORELLI, A.; LAURO, G. R. & ARECCHI, F. T. (2006): “Neural coding for the retrieval ofmultiple memory patterns”, BioSystems, 86, pp. 100-109.
NIP, I. S. B., GREEN, J. R. & MARX, D. B. (2011): “The coemergence of cognition, language, and speech motor control in early development: A longitudinal correlation study”, Journal of Communication Disorders, 44, pp. 149-160.
PALAU, F. (2010): “Enfermedades raras, un paradigma emergente en la medicina del siglo XXI / Rare diseases, an emergent paradigmin the medicine of the XXI century”, Medicina Clínica, 134, 4, pp. 161–168.
PAREDES DUARTE, Mª J. y VARO VARO, C. (2006): “Lenguaje y cerebro: conexiones entre neurolingüística y psicolingüística”, Gallardo, B.; Hernández, C. y Moreno, V. (eds): Lingüística clínica y neuropsicología cognitiva. Vol. 1: Investigación e intervención en patologías del lenguaje, València: Universitat de València, pp. 107-119.
PATTERSON, K.; NESTOR, P. J. & ROGERS, T. (2007): “Where do you know what you know? The representation of semantic knowledge in the human brain”, Nature, 8, pp. 976-987.
POEPPEL D. & EMBICK D. (2005): “Defining the relation between linguistics and neuroscience”, Cutler, A. (ed.): Twenty-first Century Psycholinguistics: Four Cornerstones, Hillsdale: Lawrence Erlbaum, pp. 103–120.
POSADA, C. et al. (2008): “Enfermedades raras. Concepto, epidemiología y situación actual en España”, Anales del Sistema Sanitario de Navarra, 31 (2), pp. 9-20.
PULVERMÜLLER, F. (2001): “Brain reflections of words and their meanings”, Trends in Cognitive Sciences, 5 (12), pp. 217-524.
PULVERMÜLLER, F. (2005, reimpr.): The neuroscience of language, Cambridge: Cambridge University Press.
PULVERMÜLLER, F. (2012): “Meaning and the brain: The neurosemantics of referential, interactive, and combinatorial knowledge”, Journal of Neurolinguistics, 25, pp. 423-459.
PULVERMÜLLER, F. (2013): “How neurons make meaning: brain mechanisms for embodied and abstract-symbolic semantics”, Trends in Cognitive Sciences, 17 (9), pp. 458-470.
RUMELHART, D. (1979): “Some problems with the notion that words have literal meanings”, Ortony, A. (ed.): Metaphor and Thought, Cambridge: Cambridge University Press, pp. 71-82.
RUMELHART, D. & McCLELLAND, J. (1986): Parallel Distributed Processing: explorations in the microstructure of cognition, Cambridge, MA: MIT Press.
SMITS, M.; JISKOOT, L. C. & PAPMA, J. M. (2014): “White Matter Tracts of Speech and Language”, Seminars in ultrasound CT and MRI, 10, pp. 504-516.
SPERBER, D. & WILSON, D. (1986): Relevance. Communication and Cognition, Oxford: Basil Blackwell.
ULLMANN, M. T. (2004): “Contributions of memory circuits to language: the declarative/procedural model”, Cognition, 92 (1-2), pp. 231-270.
VARO VARO, C. (2017): “Nuevos retos en la investigación del contenido léxico: elementos para una neurosemántica”, Rilce. Revista de Filología Hispánica, 33 (3), 1032-1059.
WORBY, C. A. & DIXON, J. E. (2014): “PTEN”, Annual Review of Biochemistry, 83 (1), pp. 641-669.