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Bachelor thesis . 2022
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Genes candidatos al futuro desarrollo de dislexia relacionados con el sistema auditivo

Authors: Cano Vegas, Tábata;

Genes candidatos al futuro desarrollo de dislexia relacionados con el sistema auditivo

Abstract

El desarrollo del lenguaje es fundamental en el individuo para poder comunicarse e interaccionar durante la vida adulta. El desarrollo de éste es crucial durante los primeros los primeros años de vida, y debe permitir al niño adquirir cualquier tipo de lenguaje al que se le exponga, pero esto no ocurre de la misma manera en todos los niños, debido a que existen una serie de sistemas que dependen tanto de factores genéticos como de factores ambientales. El estudio de este componente genético relacionado con trastornos del lenguaje, como la dislexia, es una fuente de interés para ver cómo afecta al futuro desarrollo del individuo. Por ello, el estudio longitudinal en recién nacidos resulta muy interesante para ver hasta que punto la genética afecta, antes de que se dé una importante modulación ambiental. Esta relación entre genética y factor ambiental se puede observar a través de la respuesta de seguimiento de frecuencia (FFR) –una respuesta eléctrica cerebral a los sonidos del lenguaje, que ha mostrado diferencias significativas en la expresión de esta debido a la expresión del gen. La dislexia es un trastorno del lenguaje común, que afecta alrededor de un 5-10% de la población y principalmente se define como la dificultad para decodificar las palabras, provocando a su vez problemas de lectura a pesar de tener una inteligencia adecuada. Es decir, no está asociada a ningún retraso, y se da pesé a que los sujetos tengan buenas oportunidades educativas. Dependiendo del paciente, pueden aparecer una amplia gama de deterioros del comportamiento más básico, como deficiencias en el procesamiento fonológico, memoria a corto plazo, atención visuoespacial alterada y procesamiento auditivo rápido. Dos de los genes conocidos como genes clásicos de susceptibilidad en la dislexia, son el KIAA0319 y el DCDC2. Con lo cual, un polimorfismo, es decir, una variación en la secuencia en cualquiera de estos dos genes implicará (o puede implicar) que el paciente desarrolle este trastorno o que tenga una predisposición a él y en consecuencia desarrolle todos los problemas mencionados anteriormente. El objetivo del presente estudio es encontrar alguno de estos dos polimorfismos, poderlos correlacionar con la FFR y encontrar alguna alteración en esta, debido a que ya ha servido como un codificador de la dislexia. Es decir, los niños que presentan este trastorno tendrán una FFR alterada o diferente y el efecto de esta alteración no se encuentra en la frecuencia fundamental, sino que se aprecia en los armónicos. De esta manera, podríamos detectar de manera precoz este trastorno para iniciar un tratamiento personalizado, y evitar que estos problemas mencionados se agraven con el paso de los años.

Language development is essential for the individual to be able to communicate and interact during the adult stage. Also, language development is crucial during the first years of life and must allow the child to acquire any kind of language to which s/he is exposed. However, this does not happen in the same way in all children due to the existence of a few systems that depends on both genetic and environmental factors. The study of this genetic component associated with language disorders such as dyslexia is a relevant source to see how it affects the future individual development. For this reason, the longitudinal study in new-borns is very interesting to see how far genetics affects before there is a relevant environmental modulation. This relationship between genetics and environmental factor may be observed through the frequency following response (FFR) –a brain response to speech sounds- which has shown significant differences in its expression due to the gene expression. Dyslexia is a common language disorder that affects around 5-10% of the population and is mostly defined as the difficulty in decoding words causing at the same time reading problems despite having an adequate intelligence level. In other words, it is not associated to any delay, and it occurs despite the subjects have great educational opportunities. Depending on the patient, a wide range of basic behavioural impairments may appear, such as phonological processing deficits, short-term memory, impaired visuospatial attention, and fast auditory processing. Two of the genes known as classical susceptibility genes in dyslexia are KIAA0319 and DCDC2. Therefore, a polymorphism, in other words, a variation in the sequence in any of these two genes will imply (or may imply) that the patient develops this disorder or has a predisposition to it and consequently develops all the disorders mentioned before. The objective of the present study is to find any of these two polymorphisms and be able to correlate them with the frequency following response (FFR) and find some alteration of it because it has served as a dyslexia codifier. In other words, children with this disorder will have an altered or different FFR and the effect of this is not found in the fundamental frequency, but rather in the harmonics. In this way, we could detect this disorder early to start a personalized treatment and prevent these problems from worsening over the years.

Curs 2020-2021

Country
Spain
Related Organizations
Keywords

Llenguatge i llengües -- Adquisició, Dislèxia, Conductes auditius, Genètica, Infants -- Llenguatge

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Green