Neuropsychological profile of an adult with Down syndrome-Klinefelter syndrome

This study describes an adult male with Down syndrome (DS) and Klinefelter syndrome (KS). Results from a comprehensive neuropsychological assessment are presented that assessed multiple domains, including general mental status, intelligence, language, visual-spatial/visual organization, attention and executive functioning, learning and memory, manual dexterity/fine motor skills, and academic skills. Information was also gathered from a self-report measure assessing current psychosocial functioning, from an informant interview documenting history, and from informant rating scales assessing adaptive skills and psychosocial, behavioral, and executive functioning. Overall, several aspects of the patient's phenotype are consistent with those seen in both DS and KS, although his developmental history, current level of intellectual and adaptive skills, and social demeanor are most consistent with individuals with DS. This study provides important insight into the phenotype, including neuropsychological profile of adults with DS-KS, which is useful for individuals, families, and clinicians living with and/or caring for adults diagnosed with this genetic condition. Future research should examine neuropsychological functioning and aging in this rare genotype.