Quality of Life (QoL) Assessment in Patients with Neurofibromatosis Type 2 (NF2)

The aim of this study was to develop a multidimensional metric for assessing quality of life (QoL) in patients with neurofibromatosis type 2 (NF2).

Electronically distributed questionnaire.

University tertiary care hospital, NF2 support groups.

Structured interviews with NF2 providers and patients identified relevant domains. Items in each domain were extracted from validated QoL modules, then combined with items unique to NF2 and pretested on NF2 providers and patients. The final 61-item questionnaire was administered electronically to patients with NF2 (N = 118). The form assessed overall QoL and 11 additional domains, including hearing, balance, facial function, vision, oral intake, future uncertainty, psychosocial, cognition, sexual activity, pain, and vocal communication. Responses were compared with reference values for the general population, patients with head and neck cancer, and patients with brain cancer.

Overall, QoL in patients with NF2 was lower than that of the general population (P < .01) and similar to that of patients with cancer. Patients with more facial weakness, hearing loss, and imbalance reported significantly lower QoL. However, domains most predictive of overall QoL were psychosocial, future uncertainty, and pain. Compared with patients with head and neck and brain cancer, patients with NF2 demonstrated significantly higher levels of psychosocial stressors, including disease-related anxiety, personal and financial stress, and lack of social support (P < .01).

Psychosocial stress and pain significantly affect QoL in NF2, indicating that mental health, pain management, and financial counseling could have an important impact on QoL in this population.