Rare Diseases Symptoms Automatic Extraction

[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome].

[kabuki syndrome]

Williams syndrome (WS) is known for its uneven cognitive abilities. Visuo-spatial cognition is more disturbed, whereas cognition of colors or shapes of objects is relatively preserved. This tendency is attributed to the greater deficits of functions in the dorsalpathway compared to those in the ventral pathway in the visual system. When patients with WS are asked to copy two dimensional figures, they often show difficulty in locating components of the figures to make global shapes. Similar findings are observed in copying kanji, Japanese semantic characters. Patients with WS often can copy only the components of a kanji character but can not locate the components properly and fail to make appropriate global shapes of the character even though they can read it. In order to ameliorate this difficulty, we rely on the preserved cognitive function, that is, the cognition of colors. Four participants with WS, who have difficulty copying two dimensional figures, joined the study. A kanji written on a square which is divided into four sections was used as a copy model. Each divided part of the square was colored red, green, yellow and blue, respectively. A similarly colored square was given to copy the kanji. This method was successful and made it easier for the participants with WS to copy a given kanji as it became easier to realize where to locate each component. Intervention using similar squares without colors or only with gray scaled back ground did not work. In addition, kanji with differently colored components was also presented to one of the participants as a model but it was not copied successfully. The similar difficulty in copying two dimensional objects and kanji was observed in a patient with Kabuki syndrome and the same interventional method with colored squares was effective for copying kanji.