Torres Nupan Martha Milade, Velez Van Meerbeke Alberto, López Cabra Claudia Alejandra, Herrera Gomez Paula Marcela
Neurosciences Research Group, Medicine and Health Sciences School, Universidad del Rosario, Bogota, Colombia.
Front Pediatr. 2017 Oct 30;5:227. doi: 10.3389/fped.2017.00227. eCollection 2017.
The last systematic review of research on the behavior of children with neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have been published. Therefore, the study aim was to synthesize recent relevant work related to this issue.
We conducted a systematic review of the literature. Relevant articles were identified using the electronic databases PubMed, PsycINFO, and Scopus and a manual search of references lists. Thirty of 156 articles identified met the inclusion criteria. A quality evaluation of the articles was performed and the information was synthesized using a narrative approach.
Compared with controls, children and adolescents with NF1 present significant alterations in language, reading, visuospatial skills, motor function, executive function, attention, behavior, emotion, and social skills. The prevalence of attention-deficit/hyperactivity disorder (ADHD) is important and can affect cognition and executive function variables. A high prevalence of autistic traits and autistic spectrum disorder were reported. The benefits of using statins to treat cognitive deficits are unclear. However, children with NF1 and ADHD seem to benefit from methylphenidate treatment. The presence of hyperintensities in brain magnetic resonance imaging data seem to be related to poor cognitive performance. Analysis of these lesions could help to predict cognitive alterations in children with NF1.
There has been important progress to evaluate cognitive characteristics of children with NF1 and to determine the physiological mechanisms of the concomitant disorders. However, discrepancies in relation to intelligence, learning disabilities, attention deficits, and treatment remain. Further investigations on this topic are recommended.
上一次对1型神经纤维瘤病（NF1）患儿行为研究的系统评价是在2012年。自那时以来，已发表了几项重要研究结果。因此，本研究的目的是综合近期与此问题相关的研究工作。
我们对文献进行了系统评价。通过电子数据库PubMed、PsycINFO和Scopus以及手动检索参考文献列表来识别相关文章。在识别出的156篇文章中，有30篇符合纳入标准。对这些文章进行了质量评估，并采用叙述性方法综合信息。
与对照组相比，NF1患儿和青少年在语言、阅读、视觉空间技能、运动功能、执行功能、注意力、行为、情绪和社交技能方面存在显著改变。注意缺陷多动障碍（ADHD）的患病率较高，且会影响认知和执行功能变量。据报道，自闭症特征和自闭症谱系障碍的患病率也较高。使用他汀类药物治疗认知缺陷的益处尚不清楚。然而，NF1合并ADHD的患儿似乎从哌甲酯治疗中获益。脑磁共振成像数据中高信号的存在似乎与认知功能差有关。对这些病变的分析有助于预测NF1患儿的认知改变。
在评估NF1患儿的认知特征以及确定相关疾病的生理机制方面已取得重要进展。然而，在智力、学习障碍、注意力缺陷和治疗方面仍存在差异。建议对该主题进行进一步研究。
