Compensated Structural Savantism: Neurogenomic Characterization of High Cognitive Ability in a Phenotype at Risk for Autism Spectrum Disorder
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This case study (N=1) investigates the neurobiological and genomic architecture of a male individual with a history of exceptional cognitive performance (profound giftedness), contrasted with behavioral traits of neurodivergence. Integrated analysis of polygenic risk scores (PRS), structural neuroimaging, and cognitive assessment reveals a rare phenotype termed here as "Compensated Structural Savantism". The results demonstrate a paradoxical coexistence: a high polygenic risk for Autism Spectrum Disorder (81.6th percentile), typically associated with functional deficits, superimposed on elite markers for Executive Function (99.7th percentile) and Hippocampal CA1 Volume (99.8th percentile). It is concluded that high executive efficiency and hyperplasticity act as compensatory mechanisms, converting the predisposition to autism into productive hyperfocus and exceptional memory, preventing the clinical manifestation of impairments.