Neurofibromatosis

The neurofibromatoses refer to several genetic disorders that are associated with tumors developing in nerves and the myelin sheath protecting the nerves. The three classifications include neurofibromatosis type 1 (NF1), which is also called von Recklinghausen’s disease, neurofibromatosis type 2 (NF2), and schwannomatosis. Tumors are typically benign but can become cancerous. They develop because the associated genetic mutations prevent optimal tumor suppression, leading to cell proliferation that multiplies unregulated. Relevance to the field of intellectual and developmental disabilities is primarily with NF1 because there is significantly elevated risk for learning disabilities and attention-deficit/hyperactivity disorder (ADHD). Neuropsychological profiles often include average intelligence but deficits in higher level language processing, visual-spatial skills, executive functioning, academic achievement, social skills, and emotional adjustment in the NF1 population. Individuals with ...