モザイク型ダウン症候群の知的発達について

概要

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The purpose of this study is to prove the intellectual traits of children with 46/47 mosaic Down's Syndrome. Eight cases diagnosed 46/47 mosaicism by the chromosomal analysis using peripheral leucocyte culture were compared with eight trisomic Down's Syndrome controlling CA and sex on the Tsumori's Infant Mental Development Test. The results are as follows: (1) Developmental quotients of mosaicism (mean DQ 60.6) are significantly higher than of trisomic children (mean DQ 53.4). The majority of mosaic children belong to an intellectually borderline level or a mildly retarded level.(2) The developmental profiles of the mosaic children are nearer to those of normal children rather than of the trisomic. (3) Analyzing the relationship between IQ and the proportions of cells with trisomic chromosome with 43 previously reported cases of 46/47 mosaicism, the mosaic children with higher percentages of trisomic cells are more severely retarded. (4) The mosaic individuals having fewer physical stigma showed higher IQ regarding the relationship between the physical stigma and IQ.
1973-03-01