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. 2019 May 3;14(1):94.
doi: 10.1186/s13023-019-1067-8.

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Marie-Laure Armand  1 , Charles Taieb  2 , Aline Bourgeois  1 , Mireille Bourlier  3 , Mohammed Bennani  4 , Christine Bodemer  5   6 , Pierre Wolkenstein  1 ; along with the French national network on rare skin diseases (FIMARAD)
Affiliations

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Marie-Laure Armand et al. Orphanet J Rare Dis. .

Abstract

Background: Neurofibromatosis 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.

Methods: This 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.

Results: Based 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.

Conclusions: BoN 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.

Keywords: Individual disease burden; NF1; Neurofibromatosis type 1; Quality of life; Questionnaire; Von Recklinghausen’s disease.

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Conflict of interest statement

Ethics approval and consent to participate

The questionnaire construction was carried out as part of the RADICO-FARD project, which obtained a favorable opinion from the Committee for the Protection of Individuals (CPP Ouest V, Rennes) on July 31, 2017.

The questionnaire was proposed by the patient association, and at no time did the authors of the project or the persons in charge of the analgesia statistics know the identity of the responders.

There was no way to make a connection between the answers obtained and the person who answered the questionnaire.

The respondents were provided with an information sheet before giving their consent. This information sheet as well as the consent form clearly explained the purpose of the project and guaranteed the anonymity of the responses.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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