The assessment of cognitive impairment in Klinefelter syndrome

Introduction: Though there are still contradictory findings about the cognitive defects in Klinefelter Syndrome's (KS) patients, many studies have shown impairment of these patients in ability to read, to learn and to speak. This study was planned to evaluate cognitive functions in KS patients by recording event related potentials (ERP) in correspondence to the healthy control subjects. Material and method: ERP were recorded in 39 untreated KS and 30 age and educationally matched healthy subjects. The amplitude and the latency of the P300 were compared between the groups. Results: There was no difference in the latency of P300 between groups but the amplitude was reduced in KS patients. Discussion: It has been suggested in many studies that P300 can be used for the assessment of cognitive functions. The abnormality in the amplitude of P300 is accepted to be the consequence of the developmental defect in the central nervous system in KS patients. Our findings support the fact that the deficiency of sex hormones during perinatal period might have affected the development of CNS causing cognitive dysfunction. It is probable that the diagnosis of KS could be made during perinatal period. In order to prevent the defective development of CNS, treatment modalities should be investigated and appropriate treatment should bestarted early in the perinatal period with the decision of the maintenance of the pregnancy.