Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Department of Psychology, Drexel University, Philadelphia, Pennsylvania, USA.
Am J Med Genet A. 2022 Aug;188(8):2277-2292. doi: 10.1002/ajmg.a.62773. Epub 2022 May 12.
Neurofibromatosis Type 1 (NF1) is a common genetic disorder frequently associated with cognitive deficits. Despite cognitive deficits being a key feature of NF1, the profile of such impairments in NF1 has been shown to be heterogeneous. Thus, we sought to quantitatively synthesize the extant literature on cognitive functioning in NF1. A random-effects meta-analysis of cross-sectional studies was carried out comparing cognitive functioning of patients with NF1 to typically developing or unaffected sibling comparison subjects of all ages. Analyses included 50 articles (Total N = 1,522; M = 15.70 years, range = 0.52-69.60), yielding 460 effect sizes. Overall moderate deficits were observed [g = -0.64, 95% CI = (-0.69, -0.60)] wherein impairments differed at the level of cognitive domain. Deficits ranged from large [general intelligence: g = -0.95, 95% CI = (-1.12, -0.79)] to small [emotion: g = -0.37, 95% CI = (-0.63, -0.11)]. Moderation analyses revealed nonsignificant contributions of age, sex, educational attainment, and parental level of education to outcomes. These results illustrate that cognitive impairments are diffuse and salient across the lifespan in NF1. Taken together, these results further demonstrate efforts should be made to evaluate and address cognitive morbidity in patients with NF1 in conjunction with existing best practices.
神经纤维瘤病 1 型（NF1）是一种常见的遗传疾病，常伴有认知缺陷。尽管认知缺陷是 NF1 的一个主要特征，但 NF1 患者的这种损伤特征表现出异质性。因此，我们试图定量综合 NF1 认知功能的现有文献。对比较 NF1 患者和所有年龄段的正常发育或未受影响的同胞对照受试者认知功能的横断面研究进行了随机效应荟萃分析。分析包括 50 篇文章（总 N = 1522；M = 15.70 岁，范围 = 0.52-69.60），产生了 460 个效应量。总体观察到中度缺陷[g = -0.64，95%置信区间（-0.69，-0.60）]，其中认知域的损伤存在差异。缺陷范围从大[一般智力：g = -0.95，95%置信区间（-1.12，-0.79）]到小[情绪：g = -0.37，95%置信区间（-0.63，-0.11）]。调节分析显示，年龄、性别、受教育程度和父母受教育程度对结果没有显著影响。这些结果表明，认知损伤在 NF1 患者的整个生命周期中都是弥漫性的和明显的。总之，这些结果进一步表明，应该努力评估和解决 NF1 患者的认知障碍，同时结合现有的最佳实践。
