Neurological, Neuropsychological, and Behavioral Correlates of Klinefelter's Syndrome

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Neuropsychological assessment is a rapidly expanding discipline combining skills from clinical psychology and neurology. Although neuropsychological correlates have been reported for a wide variety of clinical syndromes, little investigation of this kind has been done in the area of genetic abnormalities.

The present case study concerned a child with a variant of Klinefelter's syndrome, genotype XXYY. Results of extensive neurological, psychological, and neuropsychological evaluations are presented and discussed. In addition, educational achievement and personality correlates of the syndrome are reported.

Combined evaluation from all disciplines presented a picture of diffuse cortical impairment with slightly greater left hemisphere involvement, resulting in retardation. Previously proposed personality correlates of passivity, shyness, and dependency were also in evidence.

On recommendation of the treatment team the child was placed in an educable mentally retarded classroom and a 6-month follow-up showed him to be adjusting socially and functioning well in this setting. Although conclusions cannot be drawn from the study of a single case, data such as these may serve as a basis for future multidisciplinary approaches studying genetic abnormalities.

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