ArticleJournal of genetic counseling2016
Quality of Life in Adults with Neurofibromatosis 1 in Brazil.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.Neuropsychology review · 2018Pooled it
- Pediatric mortality from neurofibromatosis and malignant peripheral nerve sheath tumors in Brazil, 2008-2023: a 16-year nationwide analysis of persistent disparities.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Quantitative and qualitative analysis of quality of life in people diagnosed with genetic haemochromatosis in the United Kingdom.Journal of patient-reported outcomes · 2025Article
- Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.Orphanet journal of rare diseases · 2024Article
- The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.BMC medicine · 2024Article
- Altered body as a source of interactional problems in the family of individuals with neurofibromatosis type 1 - A polish study.PloS one · 2024Article
- Work participation in adults with rare genetic diseases - a scoping review.BMC public health · 2023Article
- Article
- The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1.Orphanet journal of rare diseases · 2021Article
- Review
- Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1.Journal of pain research · 2019Review
- A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1.SAGE open medicine · 2019Article
- Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.Journal of genetic counseling · 2018Article
- CRMP2-Neurofibromin Interface Drives NF1-related Pain.Neuroscience · 2018Article
- Article
- Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire.Health and quality of life outcomes · 2017Article
- Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.Anais brasileiros de dermatologiaArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.