Genética Molecular y Trastornos del Espectro Autista

Contenido principal del artículo

Luciana Fariña
Estefanía Galli
Magela Lazo
Lucía Mattei
Víctor Raggio

Resumen

Los Trastornos del Espectro Autista son un grupo de trastornos neuropsiquiátricos heterogéneos tanto en su fenotipo como en su etiología. La importancia del tema radica en el aumento de la prevalencia, siendo actualmente la prevalencia mundial de 60 a 90 casos cada 10.000 personas. En Uruguay no se cuenta con datos epidemiológicos sobre estos y otros trastornos del desarrollo pero se estima aproximadamente entre 6 a 7 casos cada 1000 personas. El siguiente trabajo monográfico intenta actualizar sobre la etiología, diagnóstico y aplicaciones de la genética molecular en los Trastornos del Espectro Autista con el fin de contribuir a la comprensión de los mismos, generando una posible herramienta para los profesionales de la salud. Estos trastornos son uno de los cuadros de la psiquiatría infantil con mayor impacto familiar y es de destacar la importancia del componente genético en su etiología. Se ha puesto en evidencia tanto en estudios clásicos de genética como a través de las nuevas tecnologías como Genome Wide Association Studies, microarrays y secuenciación del genoma completo el rol que juega la genética en la etiología de dichos trastornos. El conocimiento de la base genética que subyace a los Trastornos del Espectro Autista posibilita la detección de casos de acuerdo a un perfil genético que ayude a encontrar grupos con fenotipos similares. Esto permitirá en un futuro desarrollar medidas de prevención, realizar diagnósticos precoces y dirigir el tratamiento de acuerdo a su base etiológica, lo que tendrá mayor impacto en el pronóstico de estos pacientes.

Detalles del artículo

Cómo citar
Fariña, L., Galli, E., Lazo, M., Mattei, L., & Raggio, V. (2015). Genética Molecular y Trastornos del Espectro Autista. Anales De La Facultad De Medicina, Universidad De La República, Uruguay, 2, 9-21. Recuperado a partir de https://anfamed.edu.uy/index.php/rev/article/view/154
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