Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects 1 in 3000 to 4560 people worldwide. The phenotype and the degree of severity of NF1 are highly variable. Symptoms...Show moreNeurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects 1 in 3000 to 4560 people worldwide. The phenotype and the degree of severity of NF1 are highly variable. Symptoms include café-au-lait macules, neurofibromas and Lisch noduli. The aim of this study was to explore the extent to which the disease severity is linked to social factors in the life of the adult with NF1, using regression and mediation analysis. Participants were 46 adults diagnosed with NF1 aged 22 tot 58 years. The data presented have resulted from questionnaires participants filled out online. Disease severity was associated with social skills and perceived social support. A more severe phenotype was associated with a lower score on social skills and was also associated with less perceived social support. Although disease severity and cognition did not correlate, cognition was also a predictor for social skills and perceived social support. A higher score on cognition was associated with a higher score on social skills. A higher score on cognition was also associated with a higher score on perceived social support. These results provide a better understanding of the social profile of adults with NF1 and offer guidelines for support.Show less
