Fisch G S, Simensen R, Arinami T, Borghgraef M, Fryns J P
Kings County Hospital Center, Brooklyn, NY 11203.
Am J Med Genet. 1994 Jul 15;51(4):353-7. doi: 10.1002/ajmg.1320510411.
Longitudinal declines in IQ among fragile X [fra(X)] males have been reported previously by several investigators. Remarkably little is known about longitudinal changes in IQ scores among fra(X) females. Previously, one cross-sectional study showed a significant negative correlation between age and IQ scores. However, a recent investigation of girls with fra(X) syndrome noted longitudinal increases in IQ scores in 8 of 11 individuals. Therefore, the purpose of this preliminary multicenter study was to determine: (1) the characteristics of longitudinal changes in IQ among fra(X) females; and (2) whether these changes were comparable to those which have been observed among fra(X) males. IQ test and retest scores for 11 fra(X) females were obtained from 3 centers: Greenwood, South Carolina; Ibaraki, Japan; and Leuven, Belgium. To ensure high reliability, only test-retest scores from the Wechsler and Stanford-Binet tests were used. Age of subjects at initial testing ranged from 5 to 35 years. Mean intertest interval was 4.5 years. In contrast to a report of longitudinal increases, we found 9/11 (82%) subjects demonstrated decreases in IQ scores. Mean decline was 9 points. Females over 18 years of age showed little or no change in IQ scores. Decreases in scores appeared to be related to initial IQ score. Females in the earlier longitudinal report were higher functioning than those in our study, which may account for the observed difference in direction of change; or, change in IQ score may be related to size of the fra(X) mutation.(ABSTRACT TRUNCATED AT 250 WORDS)
此前已有多位研究者报告了脆性X综合征(fra(X))男性智商的纵向下降情况。然而,对于fra(X)女性智商分数的纵向变化却知之甚少。此前,一项横断面研究显示年龄与智商分数之间存在显著负相关。但最近一项对fra(X)综合征女孩的调查指出,11名个体中有8名智商分数呈纵向上升。因此,这项初步多中心研究的目的是确定:(1)fra(X)女性智商纵向变化的特征;(2)这些变化是否与fra(X)男性中观察到的变化相当。从3个中心获取了11名fra(X)女性的智商测试及复测分数:南卡罗来纳州格林伍德;日本茨城县;比利时鲁汶。为确保高可靠性,仅使用了韦氏和斯坦福-比奈测试的复测分数。初次测试时受试者年龄在5至35岁之间。平均测试间隔为4.5年。与纵向上升的报告相反,我们发现11名受试者中有9名(82%)智商分数下降。平均下降9分。18岁以上女性的智商分数几乎没有变化。分数下降似乎与初始智商分数有关。早期纵向报告中的女性功能水平高于我们研究中的女性,这可能解释了观察到的变化方向差异;或者,智商分数的变化可能与fra(X)突变的大小有关。(摘要截选至250词)