Mental pain, quality of life and disease burden in adults with neurofibromatosis type 1: a cross sectional study

Neurofibromatosis Type 1 (NF1) is a chronic genetic disorder with substantial physical, psychological, and social consequences. Although quality of life (QoL) and disease burden have received increasing attention in NF1, the role of mental pain remains insufficiently understood. This cross-sectional correlational study assessed mental pain, QoL, and disease burden and examined their relationships among individuals with NF1. Using a census approach, participants were recruited through the Iranian Neurofibromatosis Association’s Telegram group, and data were collected through online self-administered questionnaires between March and June 2024. Mental pain, disease burden, and QoL were assessed using validated instruments, and data were analyzed using correlation tests, independent-samples t-tests, analysis of variance (ANOVA), and multiple linear regression. A total of 212 individuals participated, with a mean age of 35.39 ± 8.08 years; 153 participants (72.2%) were female and 59 (27.8%) were male. The mean scores were 121.10 ± 42.80 for mental pain, 31.01 ± 15.57 for disease burden, and 95.00 ± 27.78 for NF1-AdQoL, with higher NF1-AdQoL scores indicating poorer QoL. Disease burden was strongly associated with poorer QoL ( r = 0.847, p < 0.001). Mental pain showed a weak inverse correlation with disease burden ( r = − 0.155, p = 0.024) but was not significantly correlated with QoL ( r = − 0.081, p = 0.242). In the adjusted multiple linear regression model (R 2 = 0.264), greater disease severity (β = 0.33, p < 0.001), learning or memory difficulties (β = 0.19, p = 0.003), and having a master’s degree rather than a diploma (β = − 0.19, p = 0.004) remained independently associated with mental pain, whereas disease burden and QoL were not independently associated with mental pain. The relationships between mental pain, disease burden, and QoL require further investigation using longitudinal studies and broader samples.