title: The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2.
abstract: The objective of this study was to develop a reliable, validated disease-specific score measuring quality of life (QOL) in clinical practice and treatment trials in Neurofibromatosis 2 (NF2) individuals. In NF2 patients, qualitative interviews (n = 15) and a focus group session (n = 30) generated items for a pilot questionnaire. This was tested and refined (n = 20). The final version (NFTI-QOL) was validated (n = 50) with two generic QOL questionnaires (SF-36 and EuroQOL). The NFTI-QOL was also administered to patients with solitary vestibular schwannoma (SVS) (n = 30) and normal controls (n = 30). The participants were NF2 patients, SVS patients, and normal controls. NFTI-QOL score, SF-36 score, and EuroQOL score were the main outcome measures. Mean NFTI-QOL score was 9.4 (range: 0 to 20, maximum possible score = 24). The NFTI-QOL score correlated strongly with EuroQOL (r = 0.71, p < 0.001) and SF-36 (r = 0.81, p < 0.001). NF2 individuals were significantly worse than the SVS patients, who in turn were worse than the controls on the NIFTI-QOL. The NFTI-QOL showed good internal reliability (Cronbach's α = 0.87). We developed an eight-item disease-specific QOL score for NF2 patients, validated against SF-36 and EuroQOL. It correlated strongly with clinician-rated disease severity in NF2, with better correlation than the SF-36 in this regard.
authors.affiliation: National Specialist Commissioning Team Neurofibromatosis Unit, Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom ; Department of ENT, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
authors.forename: Rachael E
authors.initials: RE
authors.lastname: Hornigold
authors.forename: John F
authors.initials: JF
authors.lastname: Golding
authors.forename: Guy
authors.initials: G
authors.lastname: Leschziner
authors.forename: Rupert
authors.initials: R
authors.lastname: Obholzer
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Gleeson
authors.forename: Nick
authors.initials: N
authors.lastname: Thomas
authors.forename: Daniel
authors.initials: D
authors.lastname: Walsh
authors.forename: Shakeel
authors.initials: S
authors.lastname: Saeed
authors.forename: Rosalie E
authors.initials: RE
authors.lastname: Ferner
keywords: EuroQOL; NFTI-QOL; SF-36; neurofibromatosis 2; quality of life; vestibular schwannoma
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