Periodicidad semestral: flujo continuo.
ISSN - Electrónico: 2661-6947 / DOI: 10.36015 • LILACS BIREME (19784); LATINDEX (20666)
INTRODUCCIÓN:
Los trastornos cognitivos comprenden un amplio espectro de condiciones
clínicas que afectan funciones mentales superiores como la memoria, el lenguaje, la atención,
la percepción y la planificación ejecutiva. Se manifiestan en cuadros como demencias, discapacidades
del neurodesarrollo, psicosis y enfermedades raras con fenotipo cognitivo alterado. Su clasificación, etiología y tratamiento representan desafíos significativos para la medicina actual.
OBJETIVO: Esta revisión sintetiza los principales grupos clínicos, los genes implicados, los
factores ambientales relevantes, el análisis de redes funcionales (interactomas) y los trastornos
cromosómicos asociados a estos síndromes, con énfasis en los avances en neurogenética y
biología molecular.
MATERIALES Y MÉTODOS: Se usó para la búsqueda de bibliografía la base de datos Pub-
Med, ELICIT para la búsqueda profunda de artículos y STRING para analizar las interacciones
proteicas y génicas.
RESULTADOS: La revisión de algunas de las enfermedades genéticas y cromosómicas, arroja
una lista de trastornos cognitivos y los genes relacionados a estos trastornos, que se los
muestra en tablas.
DISCUSIÓN: Al ser un artículo de revisión, todo el texto está armado como ideas y sustentos
teóricos que explican los trastornos cognitivos y los genes relacionados.
CONCLUSIONES: Debe existir una agenda pública que incluya políticas de prevención, tamizaje
genético y epigenético, acceso a terapias basadas en evidencia, y programas educativos
orientados a la inclusión y la neurodiversidad.
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