Linguistic Profile of Children With Rare Genetic Disorders

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Understanding Language in Rare Genetic Disorders: A Step Toward Tailored Interventions Language is at the core of human communication, yet for children with rare genetic disorders, its development can be profoundly impacted in ways that remain understudied. My research stems from a deep commitment to bridging this gap by exploring linguistic and cognitive profiles in these populations. By integrating standardized assessments with medical, psychoeducational, and family information, I aim to shed light on how genetic alterations influence language and executive functioning. One of the most compelling aspects of this work is its potential to shape intervention strategies. Understanding how executive functions interplay with language difficulties allows us to move beyond generic approaches and toward targeted, evidence-based support. Each case provides a valuable piece of the puzzle, contributing to the development of reference profiles that clinicians and educators can use to better support these children. This research is not just about identifying deficits—it’s about recognizing patterns, uncovering strengths, and ultimately improving the quality of life for children with rare genetic conditions. By advancing our understanding of the linguistic phenotype in these populations, we take a step closer to ensuring that no child's communicative potential is overlooked.

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