caa a22 4500 60554431X CHVBK 20210128100930.0 cr unu---uuuuu 210128e20151201xx s 000 0 eng 10.1007/s10897-015-9829-5 doi (NATIONALLICENCE)springer-10.1007/s10897-015-9829-5 The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults [Elektronische Daten] [Hilda Crawford, Belinda Barton, Meredith Wilson, Yemima Berman, Valerie McKelvey-Martin, Patrick Morrison, Kathryn North] 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. National Society of Genetic Counselors, Inc., 2015 Neurofibromatosis 1 nationallicence Adults nationallicence Lives nationallicence Wellbeing nationallicence Cosmetic nationallicence Uncertainty nationallicence Learning difficulties nationallicence Pain nationallicence Crawford Hilda The University of Sydney, 2006, Sydney, NSW, Australia aut Barton Belinda The University of Sydney, 2006, Sydney, NSW, Australia aut Wilson Meredith Department of Genetic Medicine, Westmead Hospital, Cnr Hawkesbury Road and Darcy Road, 2145, Westmead, NSW, Australia aut Berman Yemima Department of Clinical Genetics, Royal North Shore Hospital, Reserve Road, 2065, St Leonards, NSW, Australia aut McKelvey-Martin Valerie School of Pharmacy and Pharmaceutical Sciences, Ulster University, Coleraine, BT52 1SA, Co. Londonderry, Northern Ireland, UK aut Morrison Patrick School of Pharmacy and Pharmaceutical Sciences, Ulster University, Coleraine, BT52 1SA, Co. Londonderry, Northern Ireland, UK aut North Kathryn Murdoch Childrens Research Institute, Royal Children's Hospital, 50 Flemington Rd, 3062, Parkville, VIC, Australia aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/6(2015-12-01), 931-944 1059-7700 24:6<931 2015 24 10897 https://doi.org/10.1007/s10897-015-9829-5 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-015-9829-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Crawford Hilda The University of Sydney, 2006, Sydney, NSW, Australia aut NATIONALLICENCE 700 1- Barton Belinda The University of Sydney, 2006, Sydney, NSW, Australia aut NATIONALLICENCE 700 1- Wilson Meredith Department of Genetic Medicine, Westmead Hospital, Cnr Hawkesbury Road and Darcy Road, 2145, Westmead, NSW, Australia aut NATIONALLICENCE 700 1- Berman Yemima Department of Clinical Genetics, Royal North Shore Hospital, Reserve Road, 2065, St Leonards, NSW, Australia aut NATIONALLICENCE 700 1- McKelvey-Martin Valerie School of Pharmacy and Pharmaceutical Sciences, Ulster University, Coleraine, BT52 1SA, Co. Londonderry, Northern Ireland, UK aut NATIONALLICENCE 700 1- Morrison Patrick School of Pharmacy and Pharmaceutical Sciences, Ulster University, Coleraine, BT52 1SA, Co. Londonderry, Northern Ireland, UK aut NATIONALLICENCE 700 1- North Kathryn Murdoch Childrens Research Institute, Royal Children's Hospital, 50 Flemington Rd, 3062, Parkville, VIC, Australia aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/6(2015-12-01), 931-944 1059-7700 24:6<931 2015 24 10897