Klein-Tasman Bonita P, Colon Alina M, Brei Natalie, van der Fluit Faye, Casnar Christina L, Janke Kelly M, Basel Donald, Siegel Dawn H, Walker Jasmine A
University of Wisconsin - Milwaukee, Milwaukee, WI 53201, USA.
Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Int J Pediatr. 2013;2013:690432. doi: 10.1155/2013/690432. Epub 2013 Nov 19.
Neurofibromatosis-1 is the most common single gene disorder affecting 1 in 3000. In children, it is associated not only with physical features but also with attention and learning problems. Research has identified a downward shift in intellectual functioning as well, but to date, there are no published studies about the everyday adaptive behavior of children with NF1. In this study, parental reports of adaptive behavior of 61 children with NF1 ages 3 through 8 were compared to an unaffected contrast group (n = 55) that comprised siblings and community members. Significant group differences in adaptive skills were evident and were largely related to group differences in intellectual functioning. In a subsample of children with average-range intellectual functioning, group differences in parent-reported motor skills were apparent even after controlling statistically for group differences in intellectual functioning. The implications of the findings for the care of children with NF1 are discussed.
神经纤维瘤病1型是最常见的单基因疾病,每3000人中就有1人患病。在儿童中,它不仅与身体特征有关,还与注意力和学习问题有关。研究还发现了智力功能的下降,但迄今为止,尚无关于1型神经纤维瘤病儿童日常适应性行为的已发表研究。在本研究中,将61名3至8岁的1型神经纤维瘤病儿童的适应性行为的家长报告与一个由兄弟姐妹和社区成员组成的未受影响的对照组(n = 55)进行了比较。适应性技能方面存在显著的组间差异,且在很大程度上与智力功能的组间差异有关。在智力功能处于平均范围的儿童亚样本中,即使在对智力功能的组间差异进行统计学控制之后,家长报告的运动技能方面的组间差异仍然明显。本文讨论了这些发现对1型神经纤维瘤病儿童护理的意义。