Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion

Purpose: Patients with one of the 22q11.2 deletion syndromes provide a unique opportunity to research the interface between genetics and brain-behavior relationships. This study investigates the neuropsychological characteristics and behavioral phenotype of children with this deletion syndrome. Methods: We report updated findings from descriptive and nonparametric analyses of neuropsychological data from 80 children with the 22q11.2 deletion. Results: The subjects showed higher verbal than nonverbal IQ scores, assets in verbal memory, and deficits in the areas of attention, story memory, visuospatial memory, arithmetic performance relative to other areas of achievement, and psychosocial functioning. Conclusion: Children with 22q11.2 deletion syndromes exhibit a behavioral phenotype reflective of nonverbal learning disabilities, concomitant language deficits, and social-emotional concerns.