ArticleOrphanet journal of rare diseases2019
Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025Article
- Neurofibromatosis type 1 adult surveillance form for Austria.Wiener klinische Wochenschrift · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.Orphanet journal of rare diseases · 2024Article
- Burden of adult neurofibromatosis 1 questionnaire: translation and psychometric properties of the Persian version.Orphanet journal of rare diseases · 2023Article
- Development and calibration data for the Illness Burden item bank: a new computer adaptive test for persons with type 2 diabetes mellitus.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2023Article
- Impact of neurofibromatosis type 1 in an adult community population.Neuro-oncology practice · 2022Article
- How do people with neurofibromatosis type 1 (the forgotten victims) live? A grounded theory study.Health expectations : an international journal of public participation in health care and health policy · 2022Article
- RaDiCo, the French national research program on rare disease cohorts.Orphanet journal of rare diseases · 2021Article
- Article
- Identification ofFrontiers in pediatrics · 2021Article
- The Patients' Experiences of Burden of Neurofibromatosis: A Qualitative Study.Iranian journal of nursing and midwifery researchArticle
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Authors and funding
8 authors.
Funding
Abstract
backgroundNeurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic features, and uncertainty about the disorder.
methodsThis study sought to develop a self-administered questionnaire in French to assess the burden of NF1 (BoN), then translate and linguistically and cross-culturally validate it into American English, standardized methodology applied, as outlined in the report.
resultsBased on several discussions with NF1 patients, a 17-item conceptual questionnaire was first produced. Of the 91 NF1 adult patients who responded to the conceptual questionnaire, 65 (64.6% females) were accessible. Subsequent confirmatory analyses generated a 15-item questionnaire grouped into four domains, demonstrating internal consistency (Cronbach's alpha: 091), discriminant validity, and high reliability. The BoN was likewise shown to significantly correlate with other validated questionnaires, such as Dermatology Life Quality Index, Perceived Stress Scale, and SF12 mental score, indicating good external validity.
conclusionsBoN is a specific tool for assessing the burden that NF1 generates on many practical aspects of the patient daily activities, beyond the notion of quality of life". Given the increasing relevance that regulatory authorities attribute to patient-reported outcomes, the BoN questionnaire provides such supplementary information while accounting for the burden of NF1 patients in the broadest sense.
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