COGNITIVE AND ACADEMIC SKILLS IN CHILDREN WITH SEX-CHROMOSOME ABNORMALITIES
COGNITIVE AND ACADEMIC SKILLS IN CHILDREN WITH SEX-CHROMOSOME ABNORMALITIES
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DOI：
10.1007/bf00354965
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发表时间：
1991-12-01
影响因子：
2.5
通讯作者：
ROBINSON, A
中科院分区：
文献类型：
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作者：
BENDER, BG;LINDEN, M;ROBINSON, A
46名患有各种性染色体异常的未被选中的儿童(14名男孩带有47，XXY，4名男孩带有47，XYY，11名女孩带有47，XXX，9名女孩带有45，X，8名女孩患有SCA嵌合体)，通过对40,000名丹佛新生儿的连续染色体筛查，他们进行了发育跟踪，并按照包括智力、语言和成就测试的方案进行了评估。对照组包括12名染色体正常的男性和13名染色体正常的女性，他们是不同先证者的兄弟姐妹。虽然大多数SCA儿童没有智力障碍，但大多数非马赛克儿童(31/37)在学习问题上接受了特殊教育帮助。总体而言，非马赛克男性比非马赛克女性受到的影响较小，后者在两次韦氏智商测试中的平均智商得分都显著降低。这一结论进一步得到了核型特异性发现的支持，即学习障碍在这一组中是由遗传因素介导的。47，XXY男孩往往表现出较低的语言技能和特定的阅读障碍。47，XXX女孩虽然在全球范围内受到了更多的伤害，但她们表现出了语言技能方面的具体弱点。X女孩倾向于在全球范围内受到损害，但在空间思维技能方面表现出鲜明的具体缺陷。马赛克女孩在任何指标上都与对照组没有显著差异，这一结果可能是因为这些先证者中非整倍体细胞的比例较低。在每一组中都存在变异性，没有一个单一的特征可以描述所有患有任何特定SCA的儿童。因此，SCA的存在必须被视为一个风险因素，它导致了LD的倾向，但与许多其他遗传和环境因素相互作用，创造了一系列表型结果。
Forty-six unselected children with various sex chromosome abnormalities (14 boys with 47,XXY, 4 boys with 47,XYY, 11 girls with 47,XXX, 9 girls with 45,X, and 8 girls with SCA mosaicism), identified through the consecutive chromosome screening of 40,000 Denver newborns, have been followed developmentally and evaluated in a protocol that included intellectual, language, and achievement testing. Controls consisted of 12 chromosomally normal males and 13 chromosomally normal females who were siblings of various propositi. While most SCA children were not mentally retarded, most of the nonmosaic propositi (31/37) received special education help for learning problems. In general, nonmosaic males were less severely affected than nonmosaic females, who demonstrated significantly reduced mean IQ scores on both Wechsler IQ tests. The inference that learning disorders were genetically mediated in this group was further supported by karyotype-specific findings. 47,XXY boys tended to demonstrate lower verbal skills and a specific reading disability. 47,XXX girls, while more globally impaired, demonstrated evidence of a specific weakness in language skills. 45,X girls tended to be globally impaired, but demonstrated a contrasting specific deficit in spatial thinking skills. Mosaic girls were not significantly different than controls on any measure, an outcome likely occurring because of the low percentage of aneuploid cells in these propositae. Variability was present in each group, and no single profile can characterize all children with any specific SCA. The presence of SCA, therefore, must be viewed as a risk factor creating a tendency towards LD but interacting with a host of other genetic and environmental forces to create a range of phenotypic outcomes.