Burden of adult neurofibromatosis 1: Translation, cultural adaption, and psychometric properties of the Iranian version (original) (raw)
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Orphanet Journal of Rare Diseases
Background The notion of “burden” has taken a key place in the evaluation of care, particularly in the case of rare diseases. The aim of this study was to evaluate the psychometric properties of the burden of neurofibromatosis 1 questionnaire (BoN) and to determine the perceived disease burden. Results The 15-item BoN was translated into Persian, and no items were removed based on content validity. The adequacy of the sample was acceptable (KMO = 0.902), and Bartlett’s test of sphericity revealed statistically significant results (P < 0.001). Exploratory factor analysis revealed three factors. The reliability of the scale was good (Cronbach’s alpha: 0.90), and the intraclass coefficient was 0.85. The severity of the burden of neurofibromatosis was moderate, and the total mean burden score was 33.12 ± 16.12. Conclusions The Persian version of the BoN is an acceptable tool in terms of structure and content, and it specifically assesses the practical aspects of daily activities for ...
Journal of Research Development in Nursing and Midwifery, 2023
Background: Because of the numerous problems created by neurofibromatosis type 1, particular quality-of-life evaluation measures are quite significant. In Iran, general instruments are used to assess the quality of life of the target group. This study aimed to translate and examine the psychometrics of the Persian version of the Neurofibromatosis Type 1 Adult Health-related Quality of Life (NF1-AdQOL) questionnaire. Methods: This was a methodological and cross-sectional study. A total of 414 adult patients with neurofibromatosis type 1 in the Iranian Association of Neurofibromatosis were selected via convenience sampling. With the permission of the questionnaire's developer, the English version was translated into Persian using the standard back-translation procedure. Validity was assessed using face validity, content validity, exploratory, and confirmatory factor analysis. The reliability and internal consistency of the questionnaire were assessed by Cronbach's alpha and Spearman's correlation, respectively. Results: The participants' mean age was 34.48±8.3 years. The 31-item questionnaire was translated into Persian, and based on content validity analysis, 2 items were removed. The adequacy of the sample size was acceptable (KMO = 0.940). Exploratory factor analysis revealed 4 factors. The scale had good reliability (Cronbach's alpha: 0.95), and the intraclass coefficient was 0.91. The total mean quality of life score was 93±25.18. Conclusions: The finding showed that the Persian version of the questionnaire has good structural characteristics and is a reliable and valid instrument for measuring the quality of life of patients with neurofibromatosis 1.
The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2
Journal of neurological surgery. Part B, Skull base, 2012
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...
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
Journal of Genetic Counseling
Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired healthrelated quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62.0% females) recruited from non-clinical settings. Several HQoL domains, including life satisfaction, mental health, sleep, pain, gastrointestinal problems, oral health, and social support were compared between the NF1 sample and 46,293 controls from the HUNT3 population study. We also examined gender differences within the NF1 sample and predictors of HQoL. Compared to controls, the NF1 sample reported significantly poorer life satisfaction, mental health, sleep, and oral health, and more pain, gastrointestinal problems, comorbid diseases, and memory problems. Several HQoL domains were significantly correlated. Mental health was the only unique significant predictor of overall life satisfaction. Women with NF1 reported significantly more mental health, sleep, and pain problems than men with NF1. Mental health assessment and management should be integrated into clinical care of persons with NF1 to potentially improve their HQoL.
Background: Neurofibromatosis 1 (NF1) is an inherited, multi-system, tumour suppressor disorder with variable complications that cause psychological distress and social isolation. The study aim was to develop and validate a disease-specific questionnaire to measure quality of life (QOL) in NF1 that is suitable both as an assessment tool in clinical practice and in clinical trials of novel therapy. Methods: The Impact of NF1 on Quality of Life (INF1-QOL) questionnaire was developed by a literature search for common terms, focus group (n = 6), semi-structured interviews (n = 21), initial drafts (n =50) and final 14 item questionnaire (n = 50). Bivariate correlations between items, exploratory factor analysis, correlations with severity and EuroQol were employed.
Cureus, 2022
Introduction: Neurofibromatosis type 1 (NF1) is an inherited neuroectodermal abnormality with multisystem effects, which can have heavy psychological and physical burdens, especially in countries like India, wherein skin disease is significantly stigmatized. This study was performed to understand the clinical and epidemiological trends of NF1 at a tertiary care center in India and evaluate the association between clinical severity and quality of life in these patients. Methods: We conducted a cross-sectional study of 40 patients with NF1 over a period of two years at a tertiary hospital in western India. After obtaining consent, demographic and clinical information was collected from the patients and recorded in a pre-designed proforma. Quality of life was assessed by a validated Dermatology Life Quality Index (DLQI) questionnaire in languages understood by the patients and subsequently analyzed. Results: This study included 40 patients at a mean age of 28.6 years, with a slight mal...
Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2
Journal of Neurology, 2014
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 (Clin-Sev) 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 Gen-Sev (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 clinicianand genetic-rated severity suggest that NFTI-QOL taps into NF2 patient experiences that are not encompassed by ClinSev rating or genotype.
Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials
Neurology, 2013
Neurofibromatosis (NF) is a genetic disease with multiple clinical manifestations that can significantly impact quality of life (QOL). Clinical trials should include patient-reported outcomes (PROs) as endpoints to assess treatment effects on various aspects of QOL, but there is no consensus on the selection and use of such measures in NF. This article describes the PRO Working Group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Collaboration, its main goals, methods for identifying appropriate PRO measures for NF clinical trials, and recommendations for assessing pain intensity. The REiNS PRO group selected core endpoint domains important to assess in NF. The members developed criteria to rate PRO measures, including patient characteristics, psychometric properties, and feasibility, and utilized a systematic process to evaluate PROs for NF clinical trials. Within the subdomain of pain intensity, the group reviewed the Numerical Rating Scale-11 (NRS-11), the Visual Analogue Scale, and the Faces Pain Scale-Revised using this process. Based on the review criteria, each of these pain intensity scales is brief, reliable, valid, and widely used. However, the NRS-11 was given the highest rating for use in NF clinical trials due to recommendations from pain experts and other consensus groups, its extensive use in research, strong psychometric data including sensitivity to change, and excellent feasibility in ages ≥ 8 years. The systematic review criteria and process are effective for identifying appropriate PRO measures and provide information utilized by the REiNS Collaboration to achieve consensus regarding PROs in NF clinical trials.
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials
Neurology, 2016
Objective: Tumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs) assessing pain and physical functioning should be included as study endpoints. Currently, there is no consensus on the selection and use of such measures in the NF population. This article presents the recommendations of the PRO group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration for assessing the domains of pain and physical functioning for NF clinical trials. Methods: The REiNS PRO group reviewed and rated existing PRO measures assessing pain intensity, pain interference, and physical functioning using their systematic method. Final recommendations are based primarily on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility for clinical trials. Results: The REiNS PRO group chose the Numeric Rating Scale-11 ($8 years) to assess pain intensity, the Pain Interference Index (6-24 years) and the Patient-Reported Outcome Measurement Information System (PROMIS) Pain Interference Scale ($18 years) to evaluate pain interference, and the PROMIS Physical Functioning Scale to measure upper extremity function and mobility ($5 years) for NF clinical trials. Conclusions: The REiNS Collaboration currently recommends these PRO measures to assess the domains of pain and physical functioning for NF clinical trials; however, further research is needed to evaluate their use in individuals with NF. A final consensus recommendation for the pain interference measure will be disseminated in a future publication based on findings from additional published research. Neurology ® 2016;87 (Suppl 1):S4-S12 GLOSSARY CAT 5 computerized adaptive test; COA 5 clinical outcome assessment; FDA 5 Food and Drug Administration; IRT 5 Item Response Theory; NF 5 neurofibromatosis; NF1 5 neurofibromatosis 1; NF2 5 neurofibromatosis 2; NRS-11 5 Numeric Rating Scale-11; PII 5 Pain Interference Index; PRO 5 patient-reported outcome; PROMIS 5 Patient-Reported Outcome Measurement Information System; PROMIS-PF 5 Patient-Reported Outcome Measurement Information System Physical Functioning scale; PROMIS-PI 5 Patient-Reported Outcome Measurement Information System Pain Interference scale; QOL 5 quality of life; REiNS 5 Response Evaluation in Neurofibromatosis and Schwannomatosis; SF 5 short forms; SWN 5 schwannomatosis. Neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) are neurogenetic disorders that share a predisposition to develop multiple nerve sheath tumors. These tumors may cause significant complications such as visual impairments, hearing loss, facial nerve palsy, airway constriction, and spinal cord compression. 1 Generalized and focal orthopedic problems, including spinal and skeletal abnormalities such as scoliosis, congenital bowing, tibial †Deceased.
Neurology, 2021
ObjectiveTo review and recommend patient-reported outcome (PRO) measures assessing multidimensional domains of quality of life (QoL) to use as clinical endpoints in medical and psychosocial trials for children and adults with neurofibromatosis (NF) type 1, NF2, and schwannomatosis.MethodsThe PRO working group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration used systematic methods to review, rate, and recommend existing self-report and parent-report PRO measures of generic and disease-specific QoL for NF clinical trials. Recommendations were based on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility.ResultsThe highest-rated generic measures were (1) the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales for NF clinical trials for children or for children through adults, (2) the Functional Assessment of Cancer Therapy–General for adult medical trials, and (3) the World ...