title: The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults.
abstract: The complications of neurofibromatosis type 1 (NF1) are widespread, unpredictable and variable and each person's experience of this disorder is unique. However, few studies have addressed the impact of NF1 from an individual's perspective. This qualitative study aims to identify the ways in which NF1 impacts upon affected Australian adults. Sixty adults with NF1, with a range of disease severity and visibility participated in a semi-structured interview about the ways in which NF1 impacted upon their life and health. Data were analyzed using grounded theory methodology. Results indicated that NF1 impacts upon affected adults in five major ways: 1) cosmetic burden of disease 2) learning difficulties 3) concerns about the risk of passing NF1 to offspring 4) uncertain disease progression, and 5) pain. Participants identified the aspects of NF1 that bothered them the most, creating a hierarchy of NF1 concerns within the cohort. Importantly, mildly affected adults shared many of the same concerns as those more severely affected. This study enhances our current understanding of the impact of NF1 in adulthood, and augments existing recommendations for the care of these patients.
authors.affiliation: The University of Sydney, Sydney, NSW, 2006, Australia.|The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.
authors.forename: Hilda A
authors.initials: HA
authors.lastname: Crawford
authors.affiliation: The University of Sydney, Sydney, NSW, 2006, Australia. belinda.barton@health.nsw.gov.au.|Children's Hospital Education Research Institute (CHERI), The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia. belinda.barton@health.nsw.gov.au.
authors.forename: Belinda
authors.initials: B
authors.lastname: Barton
authors.affiliation: Department of Genetic Medicine, Westmead Hospital, Cnr Hawkesbury Road and Darcy Road, Westmead, NSW, 2145, Australia.|Discipline of Genetics, University of Sydney, Sydney, NSW, 2006, Australia.
authors.forename: Meredith J
authors.initials: MJ
authors.lastname: Wilson
authors.affiliation: Department of Clinical Genetics, Royal North Shore Hospital, Reserve Road, St Leonards, NSW, 2065, Australia.|Discipline of Medicine, University of Sydney, Sydney, NSW, 2006, Australia.
authors.forename: Yemima
authors.initials: Y
authors.lastname: Berman
authors.affiliation: School of Pharmacy and Pharmaceutical Sciences, Ulster University, Coleraine, Co. Londonderry, BT52 1SA, Northern Ireland, UK.
authors.forename: Valerie J
authors.initials: VJ
authors.lastname: McKelvey-Martin
authors.affiliation: School of Pharmacy and Pharmaceutical Sciences, Ulster University, Coleraine, Co. Londonderry, BT52 1SA, Northern Ireland, UK.|Northern Ireland Regional Genetics Service, Department of Medical Genetics, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK.
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Morrison
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC, 3062, Australia.
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D000328:Adult; D001294:Attitude to Health; D001315:Australia; D005260:Female; D006304:Health Status; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications / Q000523:psychology*; D011788:Quality of Life / Q000523:psychology*; D012649:Self Concept; D012919:Social Behavior
keywords: Adults; Cosmetic; Learning difficulties; Lives; Neurofibromatosis 1; Pain; Uncertainty; Wellbeing