Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen’s disease, is a genetic disorder affecting about 1 in 3000 people. Physical manifestations of NF1 include café-au-lait spots, skin fold freckling, optic nerve glioma, osseous (bone) abnormalities, iris Lisch nodules, and cutaneous and plexiform neurofibromas. Cognitive impairment is present in approximately 50% of NF1 patients. Many different types of cognitive problems have been observed in NF1-patients. Our previous studies have focused on the further elucidation of the cognitive profile of NF1-patients. We have extended this research to include aspects of social cognition and social functioning. Studies have also described many different abnormalities in the brains of NF1-patients, but have largely been unable to find strong associations with cognitive functioning. Our current work involves a study into structural and functional connectivity in the brains of NF1-patients in relation to their (social-) cognitive functioning. This study is performed in collaboration with the Leiden Institute for brain and Cognition.

Contact person:Stephan Huijbregts