Clinical qualitative study on the quality of life of patients with Neurofibromatosis type 1

• Grant number: 13/25330-3
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: June 01, 2014
• End date: May 31, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Natália Parenti Bicudo
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases, affecting 1/4,000 to 1/2,500 individuals. It has autosomal dominant inheritance and approximately 50% of cases are familiar. It is characterized by high variability in phenotypic expression and, as the penetration is virtually complete after 5 years of age, diagnosis based on clinical features is possible in the most cases. The wide variation in clinical phenotype, the risk of benign and malignant neoplasms, and the unpredictable evolution of the disease requires regular medical follow-up of patients. This project aims to investigate the impact of NF1 on the dynamics and quality of life of adults, considering the severity of the disease. It is a clinical qualitative study, in which 12 to 15 patients with NF1 will be evaluated clinically and in-depth interviewed according to a pre-set agenda, which will translate into open questions articulated within a complex network, with the object of study. The collected data will be recorded and will be transcribed reports, composing a corpus that will be investigated by the technique theme/category-based content analysis. Additionally, the WHOQOL-100 questioner, developed by WHO to measure quality of life, will be applied. The results will be reviewed and discussed with the aid of literature and clinical experience of the researchers, through comprehensive and interpretative approach. Ultimately, it is intended that this study will be as a subsidy for construction of a line of comprehensive care for patients with NF1 in the Unified Health System (UHS).

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

BICUDO, NATALIA PARENTI; DE MENEZES NETO, BALDUINO FERREIRA; DA SILVA DE AVO, LUCIMAR RETTO; RAMOS GERMANO, CARLA MARIA; MELO, DEBORA GUSMAO. Quality of Life in Adults with Neurofibromatosis 1 in Brazil. JOURNAL OF GENETIC COUNSELING, v. 25, n. 5, p. 1063-1074, OCT 2016. (13/25330-3)