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具有额外X染色体非整倍性儿童的智力与成就:纵向研究视角

Intelligence and achievement in children with extra X aneuploidy: a longitudinal perspective.

作者信息

Rovet J, Netley C, Bailey J, Keenan M, Stewart D

机构信息

Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Am J Med Genet. 1995 Oct 9;60(5):356-63. doi: 10.1002/ajmg.1320600503.

DOI:10.1002/ajmg.1320600503
PMID:8546146
Abstract

Forty-seven children (35 male, 12 female) identified as having a supernumerary X chromosome by neonatal screening were studied psychologically from childhood to late adolescence. This paper compares their findings relative to sibling controls on tests of intelligence and achievement collected over a 14-year period. Children with a supernumerary X chromosome were found to score consistently below controls on Verbal IQ and subtests comprising the Verbal Comprehension factor but they did not differ on Performance IQ, which was in the normal range. At all ages, they showed poorer reading and arithmetic achievement; relative risk for reading and arithmetic impairment was 2.6 and 2.6 in males and 1.1 and 1.7 in females. Males with an extra X chromosome were more likely to receive special education than females, who more often failed a grade. Academic achievement was not affected in aneuploid children with higher levels of intelligence. Overall, these results suggest milder impairment than previously reported, particularly among trisomy X females.

摘要

对47名通过新生儿筛查确定为有一条额外X染色体的儿童(35名男性,12名女性)从童年到青春期后期进行了心理学研究。本文比较了他们与同胞对照在14年期间收集的智力和学业成就测试中的结果。发现有额外X染色体的儿童在言语智商和构成言语理解因子的子测试中的得分始终低于对照组,但他们在处于正常范围的操作智商上没有差异。在所有年龄段,他们的阅读和算术成绩都较差;男性阅读和算术障碍的相对风险分别为2.6和2.6,女性为1.1和1.7。有额外X染色体的男性比女性更有可能接受特殊教育,而女性更常留级。智力水平较高的非整倍体儿童的学业成就未受影响。总体而言,这些结果表明损伤程度比之前报道的要轻,尤其是在X三体女性中。

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