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

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 a

SUBMITTER: Armand ML 

PROVIDER: S-EPMC6500066 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature