Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.

Abstract

Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed as an outcome measure for treatment in a multi-centre study. NFTI-QOL was related to clinician-rated severity (ClinSev) and genetic severity (GenSev) over repeated visits. Data were evaluated for 288 NF2 patients (n = 464 visits) attending the English national NF2 clinics from 2010 to 2012. The male-to-female ratio was equal and the mean age was 42.2 (SD 17.8) years. The analysis included NFTI-QOL eight-item score, ClinSev graded as mild, moderate, or severe, and GenSev as a rank order of the number of NF2 mutations (graded as mild, moderate, severe). The mean (SD) 8.7 (5.4) score for NFTI-QOL for either a first visit or all visits 9.2 (5.4) was similar to the published norm of 9.4 (5.5), with no significant relationships with age or gender. NFTI-QOL internal reliability was good, with a Cronbach's alpha score of 0.85 and test re-test reliability r = 0.84. NFTI related to ClinSev (r = 0.41, p < 0.001; r = 0.46 for all visits), but weakly to GenSev (r = 0.16, p < 0.05; r = 0.15 for all visits). ClinSev related to GenSev (r = 0.41, p < 0.001; r = 0.42 for all visits). NFTI-QOL showed a good reliability and ability to detect significant longitudinal changes in the QOL of individuals. The moderate relationships of NFTI-QOL with clinician- and genetic-rated severity suggest that NFTI-QOL taps into NF2 patient experiences that are not encompassed by ClinSev rating or genotype.

• Authors: Rosalie E Ferner, Adam Shaw, D Gareth Evans, Dympna McAleer, Dorothy Halliday, Allyson Parry, F Lucy Raymond, Juliette Durie-Gair, C Oliver Hanemann, Rachel Hornigold, Patrick Axon, John F Golding
• Journal: Journal of neurology (J Neurol) Vol. 261 Issue 5 Pg. 963-9 (May 2014) ISSN: 1432-1459 [Electronic] Germany
• PMID: 24619350 (Publication Type: Evaluation Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Cohort Studies
• Female
• Humans
• Longitudinal Studies
• Male
• Middle Aged
• Neurofibromatosis 2 (diagnosis, epidemiology, psychology)
• Quality of Life (psychology)
• Surveys and Questionnaires (standards)
• Young Adult