Quality of Life in Adults with Neurofibromatosis 1 in Brazil

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2016 Mar 6

PMID 26944915

Citations 16

Authors

Natalia Parenti Bicudo

Balduino Ferreira de Menezes Neto

Lucimar Retto da Silva de Avo

Carla Maria Ramos Germano

Debora Gusmao Melo

Affiliations

Soon will be listed here.

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients' lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1. The first stage was developed using a quantitative methodology, namely the WHOQOL-100 questionnaire; responses for the 13 patients were compared to a matched control group. The second stage comprised clinical-qualitative research whereby participants took part in a semi-structured interview; these data were analyzed using the categorical thematic analysis technique. There were no statistically significant differences in the questionnaire domains between the NF1 patients and the control subjects. Eighteen main themes were extracted from the interviews, showing interference of the NF1 visibility principally in psychological aspects and social relationships. Patients mentioned curiosity about NF1 and confusion about the distinctions between NF1 and contagious diseases, which lead to prejudice. They were concerned about the future and how the disease would develop in themselves and their offspring, and emphasized difficulties acquiring proper healthcare. These findings may help in planning healthcare for Brazilian NF1 patients and improving their quality of life.

Citing Articles

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Beliefs, screening attitudes and breast cancer awareness of young women with neurofibromatosis type 1: A reflexive thematic analysis.

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Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.

Bicudo N, Germano C, de Moraes R, de Avo L, Ferner R, Melo D An Bras Dermatol. 2024; 99(4):520-526.

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Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.

Cieza Rivera A, Lobato Fuertes C, Fernandez-Villa T, Sanchez V, Atallah I Orphanet J Rare Dis. 2024; 19(1):85.

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The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

Fournier H, Hasdenteufel M, Garrouteigt C, Perie M, Gliksohn A, Jouanne B BMC Med. 2024; 22(1):40.

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