title: 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.affiliation: National Neurofibromatosis 2 Service, England, UK, rosalie.ferner@kcl.ac.uk.
authors.forename: Rosalie E
authors.initials: RE
authors.lastname: Ferner
authors.forename: Adam
authors.initials: A
authors.lastname: Shaw
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.forename: Dympna
authors.initials: D
authors.lastname: McAleer
authors.forename: Dorothy
authors.initials: D
authors.lastname: Halliday
authors.forename: Allyson
authors.initials: A
authors.lastname: Parry
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: Juliette
authors.initials: J
authors.lastname: Durie-Gair
authors.forename: C Oliver
authors.initials: CO
authors.lastname: Hanemann
authors.forename: Rachel
authors.initials: R
authors.lastname: Hornigold
authors.forename: Patrick
authors.initials: P
authors.lastname: Axon
authors.forename: John F
authors.initials: JF
authors.lastname: Golding
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000453:epidemiology / Q000523:psychology*; D011788:Quality of Life / Q000523:psychology*; D011795:Surveys and Questionnaires / Q000592:standards; D055815:Young Adult