Loesch Danuta Z, Bui Quang M, Grigsby Jim, Butler Emma, Epstein Jennifer, Huggins Richard M, Taylor Annette K, Hagerman Randi J
School of Psychological Science.
School of Mathematics and Statistics.
Neuropsychology. 2003 Oct;17(4):646-657. doi: 10.1037/0894-4105.17.4.646.
The effects of a fragile X disorder on executive function impairment were assessed in 144 extended families, which included individuals with fragile X premutation and full mutation and their relatives without fragile X. A modification of the maximum-likelihood estimators for pedigree data, as well as ordinal logistic regression, were used in data analysis. The most outstanding deficit, occurring especially in males, involved impaired capacity to use an intention to regulate purposeful behavior. This deficit occurred independently of general cognitive impairment but was related to depletion of fragile X mental retardation 1 gene protein product. The other executive function deficits were accounted for by the general cognitive impairment. Possible mechanisms of the effect of fragile X premutation on impairments of executive functioning are considered.
在144个大家庭中评估了脆性X综合征对执行功能损害的影响，这些家庭包括脆性X前突变和全突变个体及其无脆性X的亲属。数据分析中使用了针对系谱数据的最大似然估计量的修正方法以及有序逻辑回归。最突出的缺陷，尤其在男性中出现，涉及利用意图调节有目的行为的能力受损。这种缺陷独立于一般认知损害而出现，但与脆性X智力低下1基因蛋白产物的耗竭有关。其他执行功能缺陷由一般认知损害所导致。文中考虑了脆性X前突变对执行功能损害影响的可能机制。
