Bridging Language Phenotypes, Neural Dynamics and Gene Regulation in Autism

Resumen

Autism Spectrum Disorders (ASDs) affect approximately 1% of the global population, with prevalence rising over recent decades. While ASDs are strongly heritable (~70%), translating genetic findings into effective therapeutics remains challenging due to the vast number of implicated risk genes (>700) and their limited influence in disease expression. Current interventions remain symptom-focused and do not explicitly address underlying neurodevelopmental mechanisms. Emerging approaches in functional genomics offer new insights into ASD pathogenesis by exploring the diversity of gene expression, yet clinical applications remain distant. Language deficits are among the most frequent and disabling features of ASD, profoundly affecting the individual’s and family’s quality of life. Recent evidence from neuroimaging and electrophysiology studies suggest that disrupted and atypical neural oscillations – rhythmic brain activity patterns – dynamics are linked to language deficits in ASD. Importantly, several ASD-associated genes modulate brain oscillatory dynamics, pointing to a potential mechanistic link between genetic variation, altered brain rhythms, and language impairment. In this perspective article, we propose an imaging genetics framework that leverages neural oscillatory profiles as both endophenotypes relevant for targeted treatment and functional readouts of gene expression. Specifically, we advocate the use of neuromodulation to target and treat altered oscillatory dynamics underlying speech communication deficits in ASD, and the integration of oscillation-related ASD candidate genes into a new, symptom-oriented model of functional genomics. This approach illustrates how bridging genetic variation, non-invasive neuroimaging, and behavioral phenotypes can advance our understanding of ASD and inform the development of targeted, mechanism-based interventions.

Áreas y palabras clave

Cómo citar (APA 7)

Vinurel, M., Wang, X., Kordon, D., Jochaut, D., Speranza, M., Boeckx, C., & Giraud, A. L. (2026). Bridging Language Phenotypes, Neural Dynamics and Gene Regulation in Autism. https://doi.org/10.31234/osf.io/q36bd_v1