ArticleMolecular genetics & genomic medicine2023
Characterization of health concerns in people with neurofibromatosis type 1.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1.Journal of genetic counseling · 2025Article
- Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: a national survey.Orphanet journal of rare diseases · 2025Article
- Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility.Children (Basel, Switzerland) · 2024Article
- The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1.The Journal of dermatology · 2024Article
- Development and pilot validation of a novel disfigurement severity scale for plexiform neurofibromas in children with neurofibromatosis type 1.Clinical trials (London, England) · 2024Article
- 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
- Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.Clinical trials (London, England) · 2024Article
- Analysis of visual evoked potentials in patients with neurofibromatosis type 1: new concepts.Frontiers in neurology · 2024Article
- Characterization of health concerns in people with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2023Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis 1 (NF1) is a common cancer predisposition syndrome. Affected individuals require lifelong surveillance and often suffer progressive disfigurement due to cutaneous neurofibromas. The aim of this research was to characterize health concerns and quality of life (QOL) in a population cohort.
methodsAn online survey was completed by 68 adults and 32 parents of children with NF1, and 60 controls. The survey included the Skindex-29 QOL scale, 5D-itch scale, and additional health questions.
resultsFrequency of itch was high in children (50%) and adults (69%), with most expressing interest in treatment for itch. The presence of itch and increased visibility of NF1 were predictors of poorer QoL. Many adults (53%) and parents (44%) desired access to treatment to improve cosmetic appearance. Muscle weakness/tiredness was also prevalent amongst (60-70%) adults and children with NF1. Two-thirds of adults with NF1 reported limited awareness of NF1 services and poor knowledge of surveillance, particularly breast screening in young women.
conclusionThis study highlights the impact of NF1-related itch and visibility in adults and children with a need for cosmetic and itch treatment. The findings emphasize a need for strategies to promote awareness, and access to management and treatment of NF1 in adults.
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