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Quality of Life in Adults with Neurofibromatosis 1 in Brazil

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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Acknowledgments

We would like to thank the research participants who willingly provided data for this investigation. We are also grateful to Pablo Altaffer for his help in revising the manuscript.

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Authors and Affiliations

  1. Department of Medicine, Federal University of São Carlos, São Paulo, Brazil

    Natália Parenti Bicudo, Balduíno Ferreira de Menezes Neto, Lucimar Retto da Silva de Avó, Carla Maria Ramos Germano & Débora Gusmão Melo

  2. Departamento de Medicina, Rod. Washington Luís (SP-310), Km 235, Campus da UFSCar, São Carlos, SP, Brazil, CEP 13565-905

    Débora Gusmão Melo

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  1. Natália Parenti Bicudo
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  2. Balduíno Ferreira de Menezes Neto
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  3. Lucimar Retto da Silva de Avó
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  4. Carla Maria Ramos Germano
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  5. Débora Gusmão Melo
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Correspondence to Débora Gusmão Melo.

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Funding

This survey was supported by the São Paulo Research Foundation (Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP) who gave a scholarship to NP Bicudo (grant 13/25330-3).

Conflict of Interest

Authors NP Bicudo, BF Menezes Neto, LRS de Avó, CMR Germano and DG Melo declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (Human Research Ethics Committee at the Federal University of São Carlos and National Committee for Ethics in Research of Brazil) and the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants to be included in the study.

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No animal studies were carried out by the authors for this article.

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Bicudo, N.P., de Menezes Neto, B.F., da Silva de Avó, L.R. et al. Quality of Life in Adults with Neurofibromatosis 1 in Brazil. J Genet Counsel 25, 1063–1074 (2016). https://doi.org/10.1007/s10897-016-9939-8

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