Eldridge R, Denckla M B, Bien E, Myers S, Kaiser-Kupfer M I, Pikus A, Schlesinger S L, Parry D M, Dambrosia J M, Zasloff M A
Neuroepidemiology Branch National Institutes of Health, Bethseda, Md.
Am J Dis Child. 1989 Jul;143(7):833-7.
Neurologic and cognitive function in neurofibromatosis type 1 (NF1) were assessed in a controlled pilot study of 13 pairs of siblings aged 6 to 27 years. One subject in each pair was affected with NF1, and the other, the control subject, was unaffected. Subjects with evidence of focal central nervous system disease were excluded. The 13 subjects with NF1 had no excess of mental retardation, attention-deficit disorder, or specific learning disorders (using Wilcoxon's Signed Rank Test and McNemar's Test for Symmetry). These subjects, however, had significantly higher scores for subtle neurologic abnormalities (21 vs 6) and significantly lower full-scale IQ scores (94 vs 105) than their unaffected siblings. The IQ scores of the affected subjects were not clustered at the lower end of the scale but showed a slight downward shift in distribution compared with those of their siblings. In addition, a visual-spatial orientation deficit was present in eight of nine affected subjects so evaluated. The findings suggest that subjects with NF1 have a widespread alteration of the brain during development that manifests as one or more specific types of neuropsychologic deficits.
在一项针对13对年龄在6至27岁的兄弟姐妹的对照性初步研究中，对1型神经纤维瘤病（NF1）患者的神经和认知功能进行了评估。每对中的一名受试者患有NF1，另一名作为对照受试者未患病。排除有局灶性中枢神经系统疾病证据的受试者。13名患有NF1的受试者没有智力发育迟缓、注意力缺陷障碍或特定学习障碍（使用威尔科克森符号秩检验和麦克尼马尔对称性检验）。然而，这些受试者的轻微神经异常得分显著更高（21分对6分），全量表智商得分显著更低（94分对105分），高于其未患病的兄弟姐妹。患病受试者的智商得分并非集中在量表的低端，而是与他们的兄弟姐妹相比，分布略有向下偏移。此外，在接受评估的9名患病受试者中，有8名存在视觉空间定向缺陷。研究结果表明，患有NF1的受试者在发育过程中大脑存在广泛改变，表现为一种或多种特定类型的神经心理缺陷。
