Sobesky W E, Pennington B F, Porter D, Hull C E, Hagerman R J
Child Development Unit, Children's Hospital, Denver, Colorado 80218-1088.
Am J Med Genet. 1994 Jul 15;51(4):378-85. doi: 10.1002/ajmg.1320510416.
We have studied the neurocognitive deficit in premutation and full mutation women as compared to control women and to explore the relationship between those deficits and the incidence of emotional problems. Four groups of women were examined: two fragile X (fra(X)) negative control groups, one of which grew up in fra(X) families and one not; and two DNA positive groups, one with a premutation (CGG repeats < 200) and one with an expanded mutation (CGG repeats > 200). All women were assessed using the MMPI-2, the SADS-L, and a battery of neuropsychological tests. Full mutation women had lower scores on composite measures of executive function and nonverbal function. There was no difference between the groups in terms of the lifetime incidence of depressive and anxiety disorders on the SADS-L. Full mutation women displayed Lie scales higher than the other groups on the MMPI-2. Neurocognitive measures were not related to SADS-L diagnoses but were related to the Lie scale on the MMPI-2. Finally, number of CGG repeats was related to the neuropsychological variables and the Lie scale.
我们研究了前突变和完全突变女性与对照女性相比的神经认知缺陷，并探讨了这些缺陷与情绪问题发生率之间的关系。对四组女性进行了检查：两个脆性X（fra(X)）阴性对照组，其中一组在fra(X)家庭中长大，另一组不是；两个DNA阳性组，一组为前突变（CGG重复序列<200），另一组为扩展突变（CGG重复序列>200）。所有女性均使用明尼苏达多相人格调查表第二版（MMPI-2）、情感障碍和精神分裂症日程表（SADS-L）以及一系列神经心理学测试进行评估。完全突变女性在执行功能和非言语功能的综合测量上得分较低。在SADS-L上，各组在抑郁和焦虑障碍的终生发生率方面没有差异。完全突变女性在MMPI-2上的说谎量表得分高于其他组。神经认知测量与SADS-L诊断无关，但与MMPI-2上的说谎量表有关。最后，CGG重复序列的数量与神经心理学变量和说谎量表有关。
