El lenguaje como marco de abordaje de cromosomopatías de baja prevalencia
DOI
https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.22Información
Autores/as
- Carmen Varo Varo (ES) Universidad de Cádiz
Resumen
En la actualidad los conocimientos sobre cromosomopatías y sus manifestaciones fenotípicas son bastante amplios, especialmente en lo que atañe a aquellos trastornos de mayor prevalencia como la dislexia, el autismo, el síndrome de Down, etc., para los que desde hace años se viene trabajando en protocolos normalizados de diagnóstico temprano y de intervención psicológica y logopédica. No ocurre lo mismo con aquellas alteraciones cromosómicas de menor prevalencia, habitualmente incluidas en amplios catálogos de enfermedades raras, pese a que también conllevan importantes carencias cognitivas y lingüísticas. Este hecho supone un gran escollo para la actuación eficaz y coordinada entre especialistas en los tratamientos dirigidos a incrementar las competencias comunicativas y lingüísticas de esta población y, en suma, a mejorar su calidad de vida.
Palabras clave
Descargas
Cómo citar
Licencia
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0.
Citas
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.