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Young people's experiences of neurofibromatosis type 1

Barke, Jenny

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Jenny Barke


Neurofibromatosis type 1 (NF1) is a genetic condition which can result in varying degrees of visible difference (disfigurement). There is currently very little research into the psychosocial impact of NF1, particularly during adolescence, a time when health behaviours are consolidated and appearance concerns become more salient. While clinical reviews, research and case studies have suggested that appearance is likely to play an important role in the lives of people with NF1, how young people manage appearance concerns and the possibility of a changing appearance on a day-to-day basis has not specifically been researched. The impact of appearance changes (and potential changes) associated with the condition are therefore an important area to understand further.

In order to explore the role of appearance within young people’s experiences of NF1 this thesis takes an exploratory qualitatively driven mixed methods approach. In-depth interviews were carried out with 19 people; nine young people aged 14-24 with a diagnosis of NF1; seven parents of young people with NF1 and three health professionals who work with people with NF1. Interviews were thematically analysed and subsequent themes informed the development of mixed methods surveys of young people with NF1 (n=73), parents (n=55) and health professionals (n=53).

Both interview and questionnaire data highlighted the variety in young people’s experiences of NF1. While appearance was important to young people, this was primarily in terms of general appearance evaluations and managing the uncertainty of possible future changes to their appearance rather than how noticeable they felt the condition was. While health professionals agreed with this assessment, an important difference between participant groups was that parents felt that the noticeability of symptoms impacted on their child’s experience. All participant groups underlined the importance of managing social interactions and the reactions of other people. Participants also highlighted a need for greater awareness and understanding of NF1, and access to trustworthy information and advice about their condition.

Suggested applications from findings discussed in this thesis include providing young people with age appropriate information regarding their condition, in different formats including access to health professions who are specialists in genetics or NF1. Young people may also benefit from targeted help and support related to social skills, specifically including support in talking about NF1 and answering questions about their condition. It is suggested that future research should explore how young people with NF1 and their parents manage uncertainty and noticeability.

This thesis contributes to the literature by providing data from groups who are under researched about an aspect of their experience that has not been explored. By employing a range of methods and including different participant groups an in-depth, detailed understanding of the role that appearance plays within young people’s experiences of NF1 is provided.


Barke, J. Young people's experiences of neurofibromatosis type 1. (Thesis). University of the West of England. Retrieved from

Thesis Type Thesis
Publicly Available Date Jun 6, 2019
Keywords young people, appearance, neurofibromatosis, NF1, genetics, visible difference, mixed methods
Public URL
Award Date Jan 1, 2014


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