Center of Human Genetics, University Hospitals of Leuven, Leuven, Belgium.
J Intellect Disabil Res. 2013 Sep;57(9):874-86. doi: 10.1111/j.1365-2788.2012.01648.x. Epub 2012 Oct 24.
Neurofibromatosis type 1 (NF1) is a common inherited autosomal dominant condition, characterised by multiple café-au-lait macules, axillary and/or inguinal freckling, iris Lisch nodules and tumours of the nervous system such as neurofibromas and optic pathway gliomas. At the same time, NF1 is frequently associated with intellectual disabilities across several neuropsychological domains. Existing neuropsychological data in NF1 adults are limited and sometimes contradictory. Moreover, most studies use a non-IQ-controlled norm group for comparison. This study sought to investigate specific neuropsychological characteristics in intellectual abilities unrelated to the global intellectual capacity.
Twenty NF1 adults and an IQ-, age- and gender-matched control group completed a comprehensive neuropsychological test battery composed of specific cognitive tests investigating visual-spatial abilities and memory, auditory memory, selective and sustained attention and executive functioning. A short version of the Wechsler Adult Intelligence Scale - III was also administered to both groups.
Norm comparison showed that both groups perform poorly on most neuropsychological functions, except for sustained attention. However, comparison with the IQ-matched control group showed significantly lower scores on visual-spatial abilities and memory, on auditory working memory and on tests for cognitive flexibility in NF1 adults. Nevertheless, as the significant difference in average estimated IQ score between the NF1 group and the selected control group almost reaches the 5% significance level, further analysis is needed to include IQ as a covariate. Eventually, problems in visual-spatial skills and auditory long-term memory seem to be specific NF1-related deficits, while problems in attention and executive functioning are particularly related to their general lowered intellectual abilities.
Taking into account that primary visual perception problems could be part of a more general central coherence deficit while interpreting auditory memory problems as possibly related to deficits in language use and comprehension, this idea also fits with the observation of several problems in social information processing and functioning of NF1 persons.
神经纤维瘤病 1 型（NF1）是一种常见的遗传性常染色体显性疾病，其特征是多发性咖啡牛奶斑、腋窝和/或腹股沟雀斑、虹膜 Lisch 结节以及神经系统肿瘤，如神经纤维瘤和视神经胶质瘤。与此同时，NF1 常伴有多个神经心理学领域的智力障碍。NF1 成人现有的神经心理学数据有限，且有时相互矛盾。此外，大多数研究使用非智商对照的常模组进行比较。本研究旨在调查与整体智力无关的智力能力的特定神经心理学特征。
20 名 NF1 成人和一个智商、年龄和性别匹配的对照组完成了一个全面的神经心理学测试组合，包括专门的认知测试，用于调查视觉空间能力和记忆、听觉记忆、选择性和持续性注意力以及执行功能。两组还接受了韦氏成人智力量表 III 的简短版本。
与常模组比较显示，两组在大多数神经心理学功能上表现不佳，除了持续性注意力。然而，与智商匹配的对照组相比，NF1 成人在视觉空间能力和记忆、听觉工作记忆以及认知灵活性测试中得分明显较低。尽管 NF1 组和所选对照组的平均估计智商得分之间的显著差异几乎达到 5%的显著水平，因此需要进一步分析将智商作为协变量。最终，视觉空间技能和听觉长期记忆方面的问题似乎是 NF1 相关的特定缺陷，而注意力和执行功能方面的问题则与他们普遍较低的智力能力特别相关。
考虑到主要视觉感知问题可能是更普遍的中心连贯缺陷的一部分，而听觉记忆问题则可能与语言使用和理解缺陷有关，这种观点也与 NF1 患者的社交信息处理和功能的几个问题的观察结果一致。
