P20.03.B ASSESSING QUALITY OF LIFE IN SCHWANNOMATOSIS: A SYSTEMATIC REVIEW

Abstract BACKGROUND The term schwannomatosis refers to rare genetic disorders associated with the development of multiple tumours within the central and/or peripheral nervous system. Recent advancements in our molecular understanding of these disorders have led to a redefined conceptual framework within the field. This revised framework groups nf2-related schwannomatosis with other forms of schwannomatosis resulting from various causative pathogenic variants, highlighting their distinct nature compared to neurofibromatosis 1. MATERIAL AND METHODS A comprehensive search of electronic databases, including PubMed, MEDLINE, and Scopus, was performed in August 2023. The search methodology entailed variations of keywords such as “neurofibromatosis 2,” “schwannomatosis,” “quality of life,” and “patient-reported outcomes.” Inclusion criteria encompassed studies evaluating QoL in schwannomatosis patients, utilising validated QoL appraisal tools or patient-reported outcome metrics. Case studies and reviews were excluded. RESULTS Initial searches yielded 224 articles after removal of duplicates. Following screening, 37 articles met inclusion criteria. These studies employed diverse assessment instruments, including the SF-36 (n=7), PHQ-9 (n=8), GAD-7 (n=5), and the disease-specific questionnaire NFTI-QOL (n=13). Interestingly, patients with nf2-related schwannomatosis overall had worse physical and emotional well-being than the general population, while non-nf2-schwannomatosis patients mainly reported worse pain than the general population. CONCLUSION This systematic review provides a comprehensive synopsis of QoL literature pertinent to patients with schwannomatosis. The findings underscore the imperative of a holistic patient-care paradigm, addressing not only tumour management but also the augmentation of overall well-being and QoL among affected individuals.