Background It is important to clarify the characteristic traits of the cognitive functions of Kabuki syndrome patients in order to choose appropriate pedagogical techniques.
Methods The cognitive functions in seven participants with Kabuki syndrome were investigated using the Kaufmann assessment battery for children test, the Benton facial recognition test and Theory of Mind test, with some copying tasks of two and three dimensional line drawing figures. The results were compared to those of seven Williams syndrome participants.
Results The findings indicated disparities among cognitive areas in the Kabuki syndrome participants with stronger subtest “number recall” than the subtest “gestalt closure” in the Kaufmann assessment battery for children test (p<0.05). The disparities were compatible as previously described. The difficulties in copying the line drawing figures suggested a dorsal pathway dysfunction similar to that in Williams syndrome patients, but further longitudinal observation is needed. In the Kabuki syndrome participants, four of five participants who could perform the Theory of Mind test could pass the test, whereas only two out of six in the Williams syndrome patients could do so. The discrepancies between the results of the Benton facial recognition test and Theory of Mind test were the opposite of those in the Williams syndrome patients, in spite of anecdotal observations of similar tendencies in social interaction.
Conclusion Kabuki syndrome is another disease that shows disparities among cognitive functions. Investigating this syndrome may help us to understand the mechanisms of human cognitive function.