G-2769

The Relationship Between Mental Pain, Quality of Life, and Disease Burden in Individuals with Neurofibromatosis Type 1: A Cross-Sectional Study

 Ali Akbari ¹ ℗, Reza Jahanshahi ², Saba Poolaie ³, Shaghayegh Mousavi ⁴, Akram Sanagoo ⁵ ©, Leila Jouybari ⁶   

 
Abstract

Introduction: Neurofibromatosis Type 1 (NF1) is a chronic genetic disorder with significant physical, psychological, and social impacts. Despite growing attention to the quality of life (QoL) and disease burden among NF1 patients, the role of mental pain remains largely unexplored. This study aimed to assess mental pain, QoL, and disease burden in individuals with NF1 and to examine the relationships among these variables. Methods and Materials: This cross-sectional, correlational study was conducted in Iran using a census approach. A total of 212 adult patients with a confirmed diagnosis of Neurofibromatosis Type 1 (NF1) were recruited through the Iranian Neurofibromatosis Association’s Telegram group. Data were collected online between March and June 2024 via self-administered questionnaires. The following validated instruments were used: the Orbach & Mikulincer Mental Pain Scale, the Burden of Adult Neurofibromatosis 1 (BoN) questionnaire, and the NF1 Adult Health-Related Quality of Life (NF1-AdQoL) questionnaire. Data were analyzed using SPSS version 26.0. Statistical methods included Spearman’s correlation, independent sample t-tests, and analysis of variance (ANOVA), with significance set at p 0.05. Results: Participants reported moderate levels of mental pain (M = 121.10, SD = 42.80), disease burden (M = 31.01, SD = 15.57), and reduced quality of life (M = 95.00, SD = 27.78). A strong positive correlation was found between disease burden and poorer QoL (r = 0.857, p 0.001). In contrast, mental pain showed no significant correlation with either disease burden or QoL. However, higher levels of mental pain were significantly associated with certain clinical manifestations, including pain, tingling, and itching (p = 0.001), as well as difficulties in learning or memory (p 0.001). Conclusion and Discussion: Perceived disease burden plays a central role in reducing the quality of life among individuals with NF1. Although mental pain was not significantly correlated with disease burden or QoL, it emerged as an independent psychological construct associated with specific clinical symptoms such as pain and learning difficulties. These findings underscore the importance of holistic and multidisciplinary care strategies that address both the physical and emotional challenges of NF1. Integrating psychosocial support into routine clinical care could improve the overall well-being of patients living with this chronic condition.

Keywords: Neurofibromatosis Type 1, Mental Pain, Quality of Life, Disease Burden,