A systematic review and meta‐analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1

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 NNF1 = 1,522; MAge = 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.