====== NFTI-QOL ====== The NFTI-QOL is a robustly constructed disease-specific [[QOL]] [[questionnaire]] for [[neurofibromatosis type 2]]. It correlates strongly and significantly with [[EuroQOL]] and all [[SF-36]] domains (pā€‰<ā€‰0.01). It is straightforward and quick (ā‰¤3 minutes) for patients to complete and easy to score. It is suitable as a quantitative method of assessing QOL in NF2 both in a clinical setting and as an outcome measure for treatment. The NFTI-QOL has been validated for adults (>16 years) in the [[United Kingdom]], and could be adapted for use in other countries ((Hornigold, R. E., Golding, J. F., Leschziner, G., Obholzer, R., Gleeson, M. J., Thomas, N., Walsh, D., Saeed, S., & Ferner, R. E. (2012). The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2. Journal of Neurological Surgery. Part B, Skull Base, 73(2), 104-111. https://doi.org/10.1055/s-0032-1301396)). {{nftiqol.jpg?600|}} ---- The aim of the study of Lawson McLean et al was to produce and validate a German version of the NFTI-QOL (NFTI-QOL-D) and to correlate [[QOL]] [[score]]s with a [[depression]] score ([[PHQ-9]]) and clinical [[disease]] severity. The original English-language NFTI-QOL was translated into German and then back-translated in order to preserve the questionnaire's original concepts and intentions. A link to an [[online survey]] encompassing the NFTI-QOL-D and the PHQ-9 depression questionnaire was then sent to 97 patients with NF2 by [[email]]. The respondents' scores were compared to clinician-reported disease severity scores. 77 patients completed the online survey in full. [[Internal consistency]] among NFTI-QOL-D responses was strong ([[Cronbach's alpha]]: 0.74). Both PHQ-9 and clinician disease severity scores correlated with NFTI-QOL-D scores ([[Pearson correlation coefficient]] rho 0.63 and 0.62, respectively). The NFTI-QOL-D is a reliable and useful [[tool]] to assess patient-reported QOL in German-speaking patients with [[neurofibromatosis type 2]]. The correlation of [[QOL]] with both psychological and physical disease parameters underlines the importance of individualized interdisciplinary patient [[care]] for NF2 [[patient]]s, with attention paid to mental well-being as well as to somatic disease [[manifestation]]s ((Lawson McLean AC, Freier A, Lawson McLean A, Kruse J, Rosahl S. The German version of the neurofibromatosis 2 impacts on quality of life questionnaire correlates with severity of depression and physician-reported disease severity. Orphanet J Rare Dis. 2023 Jan 6;18(1):3. doi: 10.1186/s13023-022-02607-z. PMID: 36604703.)). ===== Case series ===== 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 good reliability and ability to detect significant longitudinal changes in the QOL of individuals. The moderate relationships of NFTI-QOL with a clinician- and genetic-rated severity suggest that NFTI-QOL taps into NF2 patient experiences that are not encompassed by ClinSev rating or genotype ((Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF. Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2. J Neurol. 2014 May;261(5):963-9. doi: 10.1007/s00415-014-7303-1. Epub 2014 Mar 12. PMID: 24619350; PMCID: PMC4008785.))