Ozonoff S
Department of Psychology, University of Utah, Salt Lake City 84112-0251, USA.
Am J Med Genet. 1999 Mar 26;89(1):45-52.
Neurofibromatosis type 1 (NF1) is associated with a broad range of relatively nonspecific cognitive impairments, including low IQ, learning disabilities, and behavioral difficulties. While early studies indicated that the cognitive phenotype of NF1 resembles that of nonverbal learning disabilities (NLD), later research has found that the impairments are broader and do not fit the NLD profile well. Language-based deficits and executive dysfunction have also been found in empirical studies. There is some evidence that neuropsychological impairment may be correlated with the underlying central nervous system involvement of NF1, but this theory has not been consistently supported across studies. Further work clarifying the cognitive phenotype of NF1 is needed, especially investigations that employ appropriate comparison groups matched for intellectual level. Am. J. Med. Genet. (Semin. Med. Genet.) 89:45-52, 1999.
1型神经纤维瘤病（NF1）与一系列相对非特异性的认知障碍有关，包括低智商、学习障碍和行为困难。早期研究表明，NF1的认知表型类似于非言语学习障碍（NLD），但后来的研究发现，这些障碍更为广泛，不太符合NLD的特征。实证研究中也发现了基于语言的缺陷和执行功能障碍。有证据表明，神经心理损伤可能与NF1潜在的中枢神经系统受累有关，但这一理论在各项研究中并未得到一致支持。需要进一步开展工作来阐明NF1的认知表型，尤其是采用与智力水平相匹配的适当对照组进行的调查。《美国医学遗传学杂志》（医学遗传学研讨会）89:45 - 52，1999年。
