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INTRODUCTION. Neurocognitive deficits and academic learning difficulties are the most common neurologic complication of neurofibromatosis type 1 (NF1) in childhood and can be responsible for significant lifetime morbidity. Children with NF1 show impairments in attention, visual perception, language, executive function, academic skills, and behavior. Studies in animal models suggest that the learning disabilities associated with NF1 are caused by excessive Ras activity that leads to increased gamma-aminobutyric acid (GABA) inhibition and to decreased long-term potentiation.
AIM. To describe the frequency, severity, typology, and natural course of specific cognitive deficits in children with NF1. DEVELOPMENT. Cognitive and behavioral disorders affect between 50-80% of all children with NF1. We can define three subtypes of cognitive profiles in children with NF1 and learning disorder, including global learning disorder, specific learning disorder, and isolated attention deficit hyperactivity disorder. The most common cognitive deficits are connected with visual-spatial impairment, however working memory and executive function deficits associated with prefrontal cortex dysfunction are also important.