The Patients’ Experiences of Burden of Neurofibromatosis: A Qualitative Study
Abstract
Background: Neurofibromatosis Type 1 (NF1) is a common autosomal disorder; the criteria for the diagnosis of NF1 includes café au lait spots, freckling, and Neurofibromas (NF). Skin symptoms have a major impact on patients’ Quality of Life (QOL) but little is known about the burden of the disease on patients. The aim of this study was to explore the experiences of patients with NF.
Materials and Methods: Using purposive sampling, 20 participants were enrolled in this qualitative content analysis study. The study was carried out between 2019 and 2020. Unstructured interviews and field notes were used to gather data. Data collection was stopped when data saturation was achieved.
Results: Data analysis revealed 14 subcategories and 4 categories including “failing and falling behind in life”, “deprivation and restriction”, “social isolation”, and “ineffective adaptation to the disease”, which indicate the perception of patients with NF.
Conclusions: In addition to the physical burden due to physical complications and problems, NF imposes a high degree of psychological and social burden on patients causing mental conflicts, which in turn results in them failing and falling behind in life. These findings illustrate the need to develop strategies and use multidisciplinary approaches to support patients, and thus to reduce the burden of NF.
Keywords
Full Text:
PDFReferences
Barke J, Coad J, Harcourt D. Parents’ experiences of caring for a young person with neurofibromatosis type 1 (NF1): A qualitative study. J Community Genet 2016;7:33 9.
Soghi I, Saeedi S, Sanagoo A, Jouybari L, Ebrahimirad M, Mehravar F. Quality of life in a group of Iranian patients with neurofibromatosis type 1 with cutaneous expressions. JMUMS 2018;28:95 103.
Foji S, Dorgaleleh S, Oladnabi M, Jouybari L. NF1 Mutations analysis using whole exome sequencing technique in 11 unrelated iranian families with neurofibromatosis type 1. Int J Pediatr 2020;8:11311 9.
Cannon A, Chen M J, Li P, Boyd KP, Theos A, Redden DT, et al. Cutaneous neurofibromas in Neurofibromatosis type I: A quantitative natural history study. Orphanet J Rare Dis 2018;13:1 7.
Hummelvoll G, Antonsen KM. Young adults’ experience of living with neurofibromatosis type 1. J Genet Couns 2013;22:188 99.
Klein Tasman BP, Colon AM, Brei N, van der Fluit F, Casnar CL, Janke KM, et al. Adaptive behavior in young children with neurofibromatosis type 1. Int J Pediatr 2013;2013:690432. doi: 10.1155/2013/690432.
Graf A, Landolt MA, Mori AC, Boltshauser E. Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr 2006;149:348 53.
Wiener L, Battles H, Bedoya SZ, Baldwin A, Widemann BC. Identifying symptoms of distress in youth living with neurofibromatosis type 1 (NF1). J Genet Couns 2018;27:115 23.
Martin S, Wolters P, Baldwin A, Gillespie A, Dombi E, Walker K, et al. Social–emotional functioning of children and adolescents with neurofibromatosis type 1 and plexiform neurofibromas: Relationships with cognitive, disease, and environmental variables. J Pediatr Psychol 2012;37:713 24.
Wang DL, Smith KB, Esparza S, Leigh FA, Muzikansky A, Park ER, et al. Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome. Genet Med 2012;14:977 82.
Pasini A, Lo Castro A, Di Carlo L, Pitzianti M, Siracusano M, Rosa C, et al. Detecting anxiety symptoms in children and youths with neurofibromatosis type I. Am J Med Genet B Neuropsychiatr Genet 2012;159:869 73.
Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and self esteem of individuals with neurofibromatosis type 1 (NF1). J Genet Couns 2017;26:620 7.
Rietman AB, van Helden H, Both PH, Taal W, Legerstee JS, van Staa A, et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A 2018;176:1150 60.
Armand M L, Taieb C, Bourgeois A, Bourlier M, Bennani M, Bodemer C, et al. Burden of adult neurofibromatosis 1: Development and validation of a burden assessment tool. Orphanet J Rare Dis 2019;14:94.
Hay RJ, Johns NE, Williams HC, Bolliger IW, Dellavalle RP, Margolis DJ, et al. The global burden of skin disease in 2010: An analysis of the prevalence and impact of skin conditions. J Invest Dermatol 2014;134:1527 34.
Michaud CM, McKenna MT, Begg S, Tomijima N, Majmudar M, Bulzacchelli MT, et al. The burden of disease and injury in the United States 1996. Popul Health Metr 2006;4:11.
Uhlenbusch N, Löwe B, Depping MK. Perceived burden in dealing with different rare diseases: A qualitative focus group study. BMJ Open 2019;9:e033353. doi: 10.1136/ bmjopen 2019 033353.
Granström S, Langenbruch A, Augustin M, Mautner V F. Psychological burden in adult neurofibromatosis type 1 patients: Impact of disease visibility on body image. Dermatology 2012;224:160 7.
Polit DF. Essentials of Nursing Research. Wolters Kluwer Health/Lippincott Williams & Wilkins; 2010. 20. Elo S, Kyngäs H. The qualitative content analysis process. J Adv Nurs 2008;62:107 15.
Cohen JS, Biesecker BB. Quality of life in rare genetic conditions: A systematic review of the literature. Am J Med Genet A 2010;152:1136 56.
Dalgard FJ, Gieler U, Tomas Aragones L, Lien L, Poot F, Jemec GB, et al. The psychological burden of skin diseases: A cross sectional multicenter study among dermatological out patients in 13 European countries. J Invest Dermatol 2015;135:984 91.
Whiteley J, Emir B, Seitzman R, Makinson G. The burden of atopic dermatitis in US adults: Results from the 2013 National health and wellness survey. Curr Med Res Opin 2016;32:1645 51.
Kole A, Faurisson F. The Voice of 12,000 Patients Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe. 2009.
von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: A systematic review of the qualitative literature. Mol Genet Genomic Med 2017;5:758 73. 26. Dures E, Morris M, Gleeson K, Rumsey N. The psychosocial impact of epidermolysis bullosa. Qual Health Res 2011;21:771 82.
Petersen A. The best experts: The narratives of those who have a genetic condition. Soc Sci Med 2006;63:32 42.
Gibas AL, Klatt R, Johnson J, Clarke JT, Katz J. Disease rarity, carrier status, and gender: A triple disadvantage for women with Fabry disease. J Genet Couns 2008;17:528 37. 29. Barlow JH, Stapley J, Ellard DR. Living with haemophilia and von Willebrand’s: A descriptive qualitative study. Patient Educ Couns 2007;68:235 42.
Wolkenstein P, Zeller J, Revuz J, Ecosse E, Leplège A. Visibility of neurofibromatosis 1 and psychiatric morbidity. Arch Dermatol 2003;139:103 4.
Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P. Impact of neurofibromatosis 1 on Quality of Life: A cross sectional study of 176 American cases. Am J Med Genet A 2006;140:1893 8.
Kodra Y, Giustini S, Divona L, Porciello R, Calvieri S, Wolkenstein P, et al. Health related quality of life in patients with neurofibromatosis type 1. Dermatology 2009;218:215 20. 33. Katon W, Lin EH, Kroenke K. The association of depression and anxiety with medical symptom burden in patients with chronic medical illness. Gen Hosp Psychiatry 2007;29:147 55.
Lichtman JH, Froelicher ES, Blumenthal JA, Carney RM, Doering LV, Frasure Smith N, et al. Depression as a risk factor for poor prognosis among patients with acute coronary syndrome: Systematic review and recommendations: A scientific statement from the American Heart Association. Circulation 2014;129:1350 69.
Uhlenbusch N, Löwe B, Härter M, Schramm C, Weiler Normann C, Depping MK. Depression and anxiety in patients with different rare chronic diseases: A cross sectional study. PloS One 2019;14:e0211343. doi: 10.1371/journal.pone. 0211343.
Shpigelman CN, HaGani N. The impact of disability type and visibility on self concept and body image: Implications for mental health nursing. J Psychiatr Ment Health Nurs 2019;26:77 86.
Refbacks
- There are currently no refbacks.