Dataset Information

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 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.

SUBMITTER: Armand ML

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

REPOSITORIES: biostudies-other

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

Armand Marie-Laure ML Taieb Charles C Bourgeois Aline A Bourlier Mireille M Bennani Mohammed M Bodemer Christine C Wolkenstein Pierre P

Orphanet journal of rare diseases 20190503 1

<h4>Background</h4>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.<h4>Methods</h4>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 met ...[more]

PMID: 31053133

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Project description:BACKGROUND:Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the burden experienced by individuals who present with albinism, although such a tool is needed and would be beneficial for clinicians and patients alike. METHOD:The questionnaire was devised using standardized methodology for developing and validating questionnaires on the quality of life of subjects according to the following chronological structure: conceptual phase, development phase, and then validation phase. A multidisciplinary working group was assembled, including experts on questionnaire design and development, dermatologists specializing in care for patients with albinism, and representatives of the Genespoir association. RESULTS:Based on an initial verbatim report, the workgroup compiled a list of items that were transcribed and reformulated into questions. During the validation phase, principal component analysis (PCA) was conducted on the 24 items, which allowed the questionnaire to be reduced to 20 questions [Q]. The standardized regression coefficients were all greater than 0.5 for their corresponding factors. Based on their normalized regression coefficients, each group of questions was linked to one of the following four dimensions, with each dimension consisting of at least three questions: "Live with" (8 Q), "Daily life" (3 Q), "Resignation" (3 Q), and "Fear of the future" (6 Q). All dimensions correlated well with the overall BoA score. Cronbach's ? was 0.92 for the entire BoA scale, confirming excellent internal coherence. Intradimensional coherences all demonstrated excellent reliability (??>?0.65). The BoA questionnaire was highly correlated with the SF12, RSES and DLQI validated questionnaires. This outcome confirmed the external validity. CONCLUSION:This questionnaire represents the first specific assessment tool for evaluating the burden of albinism. It is easy to use and relatively quick to complete, which will allow the burden to be evaluated over time with a reproducible questionnaire. To ensure that this questionnaire can be used by as many people as possible, cultural and linguistic validation in US English was conducted with the original French version.

Project description:BackgroundThe application of technology in the area of dietary assessment has resulted in the development of an array of tools, which are often specifically designed for a particular country or region.ObjectiveThe aim of this study was to describe the development, validation, and user evaluation of a Web-based dietary assessment tool "Foodbook24."MethodsFoodbook24 is a Web-based, dietary assessment tool consisting of a 24-hour dietary recall (24HDR) and food frequency questionnaire (FFQ) alongside supplementary questionnaires. Validity of the 24HDR component was assessed by 40 participants, who completed 3 nonconsecutive, self-administered 24HDR using Foodbook24 and a 4-day semi-weighed food diary at separate time points. Participants also provided fasted blood samples and 24-hour urine collections for the identification of biomarkers of nutrient and food group intake during each recording period. Statistical analyses on the nutrient and food group intake data derived from each method were performed in SPSS version 20.0 (SPSS Inc). Mean nutrient intakes (and standard deviations) recorded using each method of dietary assessment were calculated. Spearman and Pearson correlations, Wilcoxon Signed Rank and Paired t test were used to investigate the agreement and differences between the nutritional output from Foodbook24 (test method) and the 4-day semi-weighed food diary (reference method). Urinary and plasma biomarkers of nutrient intake were used as an objective validation of Foodbook24. To investigate the user acceptability of Foodbook24, participants from different studies involved with Foodbook24 were asked to complete an evaluation questionnaire.ResultsFor nutrient intake, correlations between the dietary assessment methods were acceptable to very good in strength and statistically significant (range r=.32 to .75). There were some significant differences between reported mean intakes of micronutrients recorded by both methods; however, with the exception of protein (P=.03), there were no significant differences in the reporting of energy or macronutrient intake. Of the 19 food groups investigated in this analysis, there were significant differences between 6 food groups reported by both methods. Spearman correlations for biomarkers of nutrient and food group intake and reported intake were similar for both methods. A total of 118 participants evaluated the acceptability of Foodbook24. The tool was well-received and the majority, 67.8% (80/118), opted for Foodbook24 as the preferred method for future dietary intake assessment when compared against a traditional interviewer led recall and semi-weighed food diary.ConclusionsThe results of this study demonstrate the validity and user acceptability of Foodbook24. The results also highlight the potential of Foodbook24, a Web-based dietary assessment method, and present a viable alternative to nutritional surveillance in Ireland.

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

Publications

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

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