Genética, neurobiología y neuropsicología del lenguaje en el autismo: Revisión integrativa para un modelo traslacional
Genetics, neurobiology, and neuropsychology of language in autism: Integrative review for a translational model
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La marcada heterogeneidad fenotípica del lenguaje en el autismo exige superar la fragmentación teórica actual. El objetivo de este artículo es proponer un modelo traslacional que articule la evidencia genética, neurobiológica y neuropsicológica subyacente a los perfiles comunicativos en el espectro. Se realizó una revisión integrativa de la literatura bajo los lineamientos PRISMA y el marco de Whittemore y Knafl. Se incluyeron 56 estudios (2015-2025) de cuatro bases de datos primarias. Los criterios de inclusión requirieron estudios que demostraran correlaciones explícitas entre marcadores biológicos y fenotipos cognitivos, excluyendo intervenciones conductuales. La síntesis se realizó mediante análisis temático deductivo-inductivo.
Los resultados sugieren tres líneas de convergencia: 1) la evidencia preclínica muestra que genes convergen en la alteración de la sinaptogénesis y la transcripción; 2) estudios de neuroimagen vinculan estas vías con patrones atípicos de conectividad frontotemporal; y 3) el funcionamiento ejecutivo se identifica como el mediador principal entre esta conectividad y los desafíos pragmáticos y expresivos.
Se concluye que el modelo traslacional proporciona un marco conceptual útil para el razonamiento interdisciplinario. El análisis multimodal apoyado en inteligencia artificial representa una dirección metodológica coherente para intervenciones de precisión, aunque su aplicación empírica permanece preliminar. Se requieren estudios longitudinales rigurosos y una perspectiva ecológica que integre el contexto psicosocial del individuo.
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