2012, Número 2
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Rev Cub Gen 2012; 6 (2)
Marcadores biológicos y conductuales de la dislexia
Ramírez BY
Idioma: Español
Referencias bibliográficas: 81
Paginas: 9-20
Archivo PDF: 594.87 Kb.
RESUMEN
La dislexia es un trastorno crónico que se manifiesta por dificultades para aprender las habilidades lectoras a pesar de recibir una buena orientación educativa y adecuada inteligencia. Evidencias genéticas, neurofisiológicas y de neuroimágenes aportan posibles marcadores biológicos. Los últimos estudios destacan como principales genes relacionados con este trastorno al gen FOXP2 que se relaciona con la activación de regiones cerebrales del lenguaje y la lectura y a los genes DYX1C1, DCDC2 y KIAA0319, que se relacionan con el desarrollo neural de las regiones cerebrales de la lectura. Los principales marcadores cognitivos del trastorno son el bajo procesamiento fonológico y limitado reconocimiento de patrones visuales de letras y ortografía, aunque en el niño de idioma español podría ser la estrategia lexical su principal déficit. Las regiones cerebrales del sistema posterior de la lectura son consideradas críticas para identificar la dislexia; el sistema dorsal, en el procesamiento fonológico y el ventral en el reconocimiento experto de patrones visual de letras y la ortografía. La heterogeneidad del fenotipo y el genotipo permite que la genética actual identifique la susceptibilidad neurobiológica de la dislexia, pero no su diagnóstico. En el artículo se abordan los intentos de la comunidad neurocientífica por identificar marcadores biológicos y conductuales que limiten a la dislexia.
REFERENCIAS (EN ESTE ARTÍCULO)
Portellano, JA. Neuropsicología infantil. Madrid: Editorial Síntesis; 2007.
John D. E. Gabrieli. Dyslexia: A New Synergy between Education and Cognitive Neuroscience. Science. 2009;325(17).
Reigosa, V., Valdés Sosa, M., Butterworth, B., Torres, P., Santos, E., Suárez, R., Lage, A., Rodriguez, M., Estévez, N., Hernández, D. Large-scale prevalence studies of learning disabilities in Cuban school-children population. 4th Congress of the Cuban Society and First Ibero-American Workshop on Clinical Neurophysiology, Varadero, Cuba, March 11-14, 2008. Clinical Neurophysiology. doi:10.1016/j.clinph.2008.04.064
Artigas-Pallarés J. Dislexia: enfermedad, trastorno o algo distinto. Rev Neurol. 2009; 48 (Supl 2):63-69.
Rzhetsky A, Wajngurt D, Park N, Zheng T. Probing genetic overlap among complex human phenotypes. Proc Natl Acad Sci. 2007;104:11694-9.
Peterson RL, McGrath LM, Smith SD, Pennington BF. Neuropsychology and genetics of speech, language, and literacy disorders. Pediatr Clin North Am. 2007;54:543-6.
Zou L, Chen W, Shao S, Sun Z, Zhong R, Shi J, Miao X, Song R. Genetic variant in KIAA0319, but not in DYX1C1, is associated with risk of dyslexia: An integrated meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):970-6.
Giraud AL, Ramus F. Neurogenetics and auditory processing in developmental dyslexia. Curr Opin Neurobiol. 2012 Oct 3. doi:pii: S0959-4388(12)00145-6. 10.1016/j.conb.2012.09.003.
Díaz B, Hintz F, Kiebel SJ, von Kriegstein K. Dysfunction of the auditory thalamus in developmental dyslexia. Proc Natl Acad Sci. 2012 Aug 21;109(34):13841-6. doi: 10.1073/pnas.1119828109.
Reinstein E, Chang BS, Robertson SP, Rimoin DL, Katzir T. Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia. Am J Med Genet A. 2012 Aug; 158A (8):1897-901. doi: 10.1002/ajmg.a.35455.
Darki F, Peyrard-Janvid M, Matsson H, Kere J, Klingberg T. Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure. Biol Psychiatry. 2012 Oct 15; 72(8):671-6. doi: 10.1016/j.biopsych.2012.05.008.
Zuo PX, Wu HR, Li ZC, Cao XD, Pang LJ, Yang L, Liu F, Zhao F. Association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese. Chin Med J (Engl). 2012 Feb;125(4):622-5.
Heidi Anthoni, Lara E. Sucheston, Barbara A. Lewis, Isabel Tapia-Pa´ez , Xiaotang Fan, Marco Zucchelli, Mikko Taipale, Catherine M. Stein, Marie-Estelle Hokkanen, Eero Castre´n. et al. The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language. Behav Genet. 2012;42:509-527.
Szalkowski CE, Fiondella CF, Truong DT, Rosen GD, Loturco JJ, Fitch RH. The effects of Kiaa0319 knockdown on cortical and subcortical anatomy in male rats. Int J Dev Neurosci. 2012 Dec 5. pii: S0736-5748(12)00599-0. doi: 10.1016/j.ijdevneu.2012.11.008.
Szalkowski CE, Fiondella CG, Galaburda AM, Rosen GD, Loturco JJ, Fitch RH. Neocortical disruption and behavioral impairments in rats following in utero RNAi of candidate dyslexia risk gene Kiaa0319. Int J Dev Neurosci. 2012;30(4):293-302.
Wang Y, Yin X, Rosen G, Gabel L, Guadiana SM, Sarkisian MR, Galaburda AM, Loturco JJ. Dcdc2 knockout mice display exacerbated developmental disruptions following knockdown of doublecortin. Neuroscience. 2011 Sep 8;190:398-408
Field LL, Shumansky K, Ryan J, Truong D, Swiergala E, Kaplan BJ. Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. Genes, Brain and Behavior. 2012. doi: 10.1111/gbb.12003
Mascheretti S, Bureau A, Battaglia M, Simone D, Quadrelli E, Croteau J, Cellino MR, Giorda R, Beri S, Maziade M, Marino C. An assessment of gene-by-environment interactions in developmental dyslexia-related phenotypes. Genes Brain Behav. 2012 Nov 24. doi: 10.1111/gbb.12000.
Addis L, A. D. Friederici, S. A. Kotz, B. Sabisch, J. Barry, N. Richter, A. A. Ludwig, R. Rübsamen, F. W. Albert, S. Pääbo, D. F. Newbury, A. P. Monaco. A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Genes, Brain and Behavior. 2010; 9(6):545-561.
Cadmon KP Lim, Conn ie SH Ho, Crystal HN Chou, Mary MY Waye. Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behavioral and Brain Functions. 2011;7(16):2-9.
Viholainen H, Mikko A RO, Timo AHO NEN, Sus An Crawford, Marja Ca Ntell, Libb E Kooistra. Are balance problems connected to reading speed or the familial risk of dyslexia? Developmental Medicine & Child Neurology. 2011;53:350-353.
Peter B, Matsushita M, Raskind WH. Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family. Psychiatr Genet. 2012;22(5):226-34.
Kirsten H, Wilcke A, Ligges C, Boltze J, Ahnert P. Association study of a functional genetic variant in KIAA0319 in German dyslexics. Psychiatr Genet. 2012 Aug;22(4):216-7.
Gabel LA, Marin I, LoTurco JJ, Che A, Murphy C, Manglani M, Kass S. Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice. Genes Brain Behav. 2011 Nov;10(8):868-75.
Marino C, Meng H, Mascheretti S, Rusconi M, Cope N, Giorda R, Molteni M, Gruen JR. DCDC2 genetic variants and susceptibility to developmental dyslexia. Psychiatr Genet. 2012 Feb;22(1):25-30.
Kang C, Drayna D. Genetics of speech and language disorders. Annu Rev Genomics Hum Genet. 2011 Sep 22;12:145-64.
Van Bergen E, de Jong PF, Plakas A, Maassen B, van der Leij A. Child and parental literacy levels within families with a history of dyslexia. J Child Psychol Psychiatry. 2012 Jan;53(1):28-36.
Scerri TS, Morris AP, Buckingham LL, Newbury DF, Miller LL, Monaco AP, Bishop DV, Paracchini S. DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biol Psychiatry. 2011 Aug 1;70(3):237-45.
Ludwig KU, Roeske D, Schumacher J, Schulte-Körne G, König IR, Warnke A, Plume E, Ziegler A, Remschmidt H, Müller-Myhsok B, Nöthen MM, Hoffmann P. Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. J Neural Transm. 2008 Nov;115(11):1587-9.
Marino C, Mascheretti S, Riva V, Cattaneo F, Rigoletto C, Rusconi M, Gruen JR, Giorda R, Lazazzera C, Molteni M. Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of developmental dyslexia. Behav Genet. 2011 Jan;41(1):67-76.
DeFries JC, Fulker DW, LaBuda MC. Evidence for a genetic etiology in reading disability of twins. Nature. 1987;329(6139):537-539.
Finucci JM, Guthrie JT, Childs AL, Abbey H, Childs B. The genetics of specific reading disability. Ann Hum Genet. 1976;40(1):1-23.
Galaburda AM, Sherman GF, Rosen GD, Aboitiz F, Geschwind N. Developmental dyslexia: four consecutive patients with cortical anomalies. Ann Neurol. 1985;18(2):222-233.
Galaburda, A. M., Menard, M., & Rosen, G. D. (1994) Evidence for aberrant auditory anatomy in developmental dyslexia. Proceedings of the National Academy of Sciences. 1994;91:8010-8013.
Benítez-Burraco A. Neurobiología y neurogenética de la dislexia. Neurología. 2010;25(9): 563-581.
Poelmans, G, Buitelaar JK, Pauls, DL, B Franke. A theoretical molecular network for dyslexia: integrating available genetic findings. Molecular Psychiatry. 2011;16.
Arndt Wilcke, Carolin Ligges, Jana Burkhar, Michael Alexander, Christiane Wolf, Elfi Quente, Peter Ahnert, Per Hoffmann, Albert Becker, Bertram Muller-Myhsok, Sven Cichon, Johannes Boltze, Holger Kirsten. Imaging genetics of FOXP2 in dyslexia. European Journal of Human Genetics. 2012;20:224-229.
Philippe Pinel, Fabien Fauchereau, Antonio Moreno, Alexis Barbot, Mark Lathrop, Diana Zelenika, Denis Le Bihan, Jean-Baptiste Poline, Thomas Bourgeron, Stanislas Dehaene. Genetic Variants of FOXP2 and KIAA0319/TTRAP/THEM2 Locus Are Associated with Altered Brain Activation in Distinct Language-Related Regions. The Journal of Neuroscience. 2012; 32(3):817- 825.
Sonja C Vernes, Kay D MacDermot, Anth ony P Monaco, Simon E Fishe. Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. European Journal of Human Genetics. 2009;17:1354-1358.
Sanjuán J, Tolosa A, Colomer-Revuelta J, Ivorra-Martínez J, Llacer B, Jover M. Factores genéticos en el desarrollo del lenguaje. Rev Neurol. 2010;50(Supl 3):101-6.
Simon E. Fisher, Constance Scharff. FOXP2 as a molecular window into speech and language. Trends in Genetics. 2009;25(4):166-177.
Rosen GD, Bai J, Wang Y, Fiondella CG, Threlkeld SW, LoTurco JJ, et al. Disruption of neuronal migration by RNAi of Dyx1c1 results in neocortical and hippocampal malformations. Cereb Cortex. 2007;17:2562-72.
Zhao Y, Ma H, Wang Y, Gao H, Xi C, Hua T, Qiu G. Association between FOXP2 gene and speech sound disorder in Chinese population. Psychiatry Clin Neurosci. 2010;64:565-573.
Peter B, Raskind WH, Matsushita M, Lisowski M, Vu T, Berninger VW, Wijsman EM, Brkanac Z. Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. J Neurodev Disord. 2011;3:39-49.
Caylak E. A review of association and linkage studies for genetical analyses of learning disorders. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:923-943.
Paracchini S, Steer CD, Buckingham LL, Morris AP, Ring S, Scerri T, Stein J, Pembrey ME, Ragoussis J, Golding J, Monaco AP. Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Am J Psychiatry. 2008;165:1576-1584.
Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, Richardson AJ, Walter J, Stein JF, Talcott JB, Monaco AP. Investigation of dislexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet. 2011;41:90-104.
Kitayama S, Park J. Cultural neuroscience of the self: understanding the social grounding of the brain. SCAN. 2010;5:111-129.
Ardila A. Toward the development of a cross-linguistic naming test. Archives of Clinical Neuropsychology. 2007;22: 297-307.
Choudhury S. Culturing the adolescent brain: what can neuroscience learn from anthropology? Soc Cog Affect Neurosci. 2010;5 Jun (2-3):159 -67.
Nell, V. Cross-Cultural Neuropsychological Assessment. 2000.
Fletcher-Janzen, E., Strickland, T.L. & Reynolds, C.R. Handbook of Cross-Cultural Neuropsychology. 2000.
Uzzell, B., Pontón, M.O. & Ardila, A. International Handbook of Cross-Cultural Neuropsychology. 2007.
Mosquera Suárez R. Valor predictivo del procesamiento de la palabra escrita en la competencia lectora en el idioma español. Un estudio longitudinal. Centro de Neurociencias de Cuba. Tesis de Maestria en Ciencias. Mención: Neurociencias Cognitivas.2011.
S. E. Shaywitz, B. A. Shaywitz. Paying attention to reading: The neurobiology of reading and dyslexia. Development and Psychopathology. 2008;20:1329-1349.
Shaywitz, B., Shaywitz, S., Pugh, K., Mencl,W., Fulbright,R., Skudlarski, P., et al. Disruption of posterior brain systems for reading in children with developmental dyslexia. Biological Psychiatry. 2002;52:101-110.
Landwehrmeyer, B., Gerling, J., y Wallesch, C.W. Patterns of task-related slow brain potentials in dyslexia. Archives of Neurology. 1990;47:791-797.
Hoeft. F, Meyler A, Hernandez A, Juel C, Taylor-Hill H, Martindale, JL, McMillon G, Kolchugina G, Black JM, Faizi A, Deutsch GF, Ting Siok W, Reiss AL, Whitfield-Gabrieli S, Gabrieli JDE. Functional and morphometric brain dissociation between dyslexia and reading ability. PNAS. 2007;104(10): 4235.
Neuhoff N, Bruder J, Bartling J, Warnke A, Remschmidt H, et al. Evidence for the Late MMN as a Neurophysiological Endophenotype for Dyslexia. PLoS ONE. 2012;7(5):e34909. doi:10.1371/journal.pone.0034909
S Illingworth, D V.M. Bishop. Atypical cerebral lateralisation in adults with compensated developmental dyslexia demonstrated using functional transcranial Doppler ultrasound, Brain & Language. 2009;111:61-65.
C.J. Price, J.T. Devlin. The myth of the visual word form area. NeuroImage. 2003;19:473-481.
Booth JR, Douglas D. Burman, Joel R. Meyer, Darren R. Gitelman, Todd B. Parrish, M.Marsel Mesulam. Functional Anatomy of Intra- and Cross-Modal Lexical Tasks. NeuroImage. 2002;16: 7-22.
Freeman J, Simocelli E P. Metamers of the ventral stream. Nature Neuroscience. 2011;14:1195-1201.
Demont, E., & Gombert, J. E. L’apprentissage de la lecture: évolution des procédures et apprentissage implicite. Enfance. 2004;3:245-257.
Urs Maurer, Enrico Schulz, Silvia Brem, Sanne van der Mark, Kerstin Bucher, Ernst Martin, Daniel Brandeis. The development of print tuning in children with dyslexia: Evidence from longitudinal ERP data supported by fMRI. NeuroImage. 2011;57(3):714-722.
Gabor Stefanics, Tim Fosker, Martina Huss, Natasha Mead, Denes Szucs, Usha Goswami. Auditory sensory deficits in developmental dyslexia: A longitudinal ERP study. NeuroImage. 2011;57(3):723-732.
Sanne van der Mark, Peter Klaver, Kerstin Bucher, Urs Maurer, Enrico Schulz, Silvia Brem, Ernst. The left occipitotemporal system in reading: Disruption of focal fMRI connectivity to left inferior frontal and inferior parietal language areas in children with dyslexia. NeuroImage. 2011;54(3):2426-2436.
Alegria, J., & Mousty, P. Les troubles phonologiques et métaphonologiques chez l’enfant dyslexique. Enfance. 2004;3:259-271.
Demont, E., & Gombert, J. E. L’apprentissage de la lecture: évolution des procédures et apprentissage implicite. Enfance. 2004;3:245-257.
Ramus, F., Rosen, S., Dakin, S. C., Day, B. L., Castellote, J. M., White, S., & Firth, U. (2003). Theories of developmental dyslexia: Insights from a multiple case study of dyslexic adults. Brain. 2003;126:841-865.
Pennington BF. From single to multiple deficit models of developmental disorders. Cognition 2006;101:385-413.
Willcutt EG, Pennington BF, Boada R, Ogline JS, Tunick RA, Chhabildas NA, et al. A comparison of the cognitive deficits in reading disability and attention-deficit/hyperactivity disorder. J Abnorm Psychol.2001;110:157-72.
Willcutt EG, Pennington BF, Olson RK, Chabildas N, Hulslander J. Neuropsychological analyses of comorbidity between reading disability and attention deficit hyperactivity disorder: in search of the common deficit. Dev Neuropsychol. 2005;27:35-78.
Debbie Gooch, Margaret Snowling, and Charles Hulme. Time perception, phonological skills and executive function in children with dyslexia and/or ADHD symptoms.Journal of Child Psychology and Psychiatry. 2011;52(2):195-203.
Shaywitz SE, Shaywitz BA. Paying attention to reading: the neurobiology of reading and dyslexia. Dev Psychopathol. 2008;20:1329-49.
Wolf M, Denkla MB. RAN/RAS. Rapid automatized naming and rapid alternating stimulus test. Austin, TX: Pro-Ed; 2005.
Bental B, Tirosh E. The effects of methylphenidate on word decoding accuracy in boys with attention-deficit/hyperactivity disorder. J Clin Psychopharmacol. 2008;28:89-92.
J. Artigas-Pallarés.Tratamiento farmacológico de la dislexia. Rev Neurol. 2009;48(11):585-591.
Kujala, T., Karma, K., Ceponiene, R., Belitz, S., Turkkila, P., Tervaniemi, M. & Naatanen, R. Plastic neural changes and reading improvement caused by audiovisual training in reading-impaired children. Proc Natl Acad Sci. 2001;98:10509-10514.
Simos, P. G., Fletcher, J. M., Bergman, E., Breier, J. I., Foorman, B. R,Castillo, E. M., Davis, R. N., Fitzgerald, M. & Papanicolaou, A. C. Dyslexia-specific brain activation profile becomes normal following successful remedial training. Neurology. 2002;58:1203-1213.
Temple E, Gayle K. Deutsch, Russell A. Poldrack, Steven L. Miller, Paula Tallal, Michael M. Merzenich, John D. E. Gabrieli. Neural deficits in children with dyslexia ameliorated by behavioral remediation: Evidence from functional MRI. Proc Natl Acad Sci. 2003 Mar 4; 100(5):2860-5.