Abstract
Health-related quality of life (QoL) reflects a patient-centred view that is distinct from a medical diagnosis or a catalogue of signs and symptoms. It is influenced by, and in turn influences patients’ clinical symptoms, familial and societal supports and life situation. QoL is a legitimate alternative to traditional clinical outcome measures of treatment efficacy and is central to assessments of general well-being. QoL is quantifiable by general measures of disease burden that profile physical, mental, and functional health and well-being as well as by instruments specific to certain manifestations such as skin findings or speech difficulties. Longitudinal measures of QoL can track changes over time. Scores on both generic and specific instruments tend to be lower in people of all ages with NF1 than in the general population. However, positive self-perceptions in both children and adults with NF1 have been observed and have been proposed to be a psychological compensatory mechanism. Continuing support and guidance as well as proactive interventions to minimize cosmetic and functional impacts of NF1 has potential for lifelong impact on QoL for the patient and his or her family.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Ablon J (1999) Living with genetic disorder. Auburn House, Westport, CT
Arnold A, McEntagart M, Younger DS (2005) Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counselling. J Genet Counsel 14:307–318
Autism Society of Canada (2009) Federal Autism Legislation, Bill C-360, a “Step in the right direction”. Autism Society of Canada, Ottawa
Barton B, North K (2006) The self-concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev 33:401–408
Benjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L (1993) Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet 30:567–574
Cosyns M, Vandeweghe L, Mortier G, Janssens S, Van Borsel J (2010) Speech disorders in neurofibromatosis type 1: a sample survey. Int J Lang Commun Disord 45:600–607
Cosyns M, Mortier G, Corthals P, Janssens S, Van Borsel J (2011) Voice characteristics in adults with neurofibromatosis type 1. J Voice 25:759–764
Cosyns M, Mortier G, Janssens S, Van Borsel J (2012) Voice-related quality of life in adults with neurofibromatosis type 1. J Voice 26(2):e57–e62
Evans DG, O’Hara C, Wilding A, Ingham SL, Howard E, Dawson J et al (2011) Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survivial in a region of the UK since 1989. Eur J Hum Genet 19:1187–1191
Fine PG (2011) Long-term consequences of chronic pain: mounting evidence for pain as a neurological disease and parallels with other chronic disease states. Pain Med 12:996–1004
GinaHelp (2010) (Genetic Alliance, the Genetics and Public Policy Center at the Johns Hopkins University, and the National Coalition for Health Professional Education in Genetics). http://www.ginahelp.org. Accessed 13 Dec 2011
Graf A, Landolt MA, Capone Mori A, Boltshauser E (2006) Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr 149:348–353
Kodra Y, Giustini S, Divona L, Porciello R (2009) Health-related quality of life in patients with neurofibromatosis type 1: a survey of 129 Italian patients. Dermatology 218:215–220
Krab LC, Oostenbrink R, de Goede-Bolder A, Aarsen FK, Elgersma Y, Moll HA (2009) Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior. J Pediatr 154:420–425
Langenbruch A, Augustin M, Granstrom S, Kluwe L, Mautnter V (2011) Clinical and healthcare status of patients with neurofibromatosis type 1. Br J Dermatol 165:225–227
Mandzuk LL, McMillan DE (2005) A concept analysis of quality of life. J Orthop Nurs 9:12–18
Mauger D, Zeller J, Revuz J, Wolkenstein P (1999) Retentissement psychologique de la neurofibromatoses de type 1: analyse d'entretiens avec 12 malades en vue d'une évaluation de la qualité de vie. Ann Dermatol Venereol 126:619–620
O’Connor R (2004) Measuring quality of life in health. Churchill Livingstone, Edinburgh
Oostenbrink R, Spong K, de Goede-Bolder A, Landgraf J, Raat H, Moll H (2007) Parental reports of health-related quality of life in young children with neurofibromatosis type 1: Influence of condition-specific determinants. J Pediatr 151:182–186
Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P (2006) Impact of neurofibromatosis 1 on quality of life: a cross-sectional study of 176 American cases. Am J Med Genet A 140(18):1893–1898
Rasmussen S, Yang Q, Friedman J (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 68:1110–1118
Reissman F (1986) In: Weiss JO, Karkalits JE, Bishop KK, Paul NW (eds) Genetic support groups: volunteers and professional partners. March of Dimes Foundation, White Plains, NY
Riccardi VM (1992) Neurofibromatosis. Phenotype, natural history, and pathogenesis. The Johns Hopkins University Press, Baltimore, MD
Spuijbroek AT, Oostenbrink R, Landgraf JM, Rietveld E, de Goede-Bolder A, van Beeck EF et al (2011) Health-related quality of life in preschool children in five health conditions. Qual Life Res 20:779–786
Stevenson DA, Carey JC (2009) Health-related quality of life measure in genetic disorders: an outcome variable for consideration in clinical trials. Am J Med Genet C 151C:255–260
Taylor RM, Gibson F, Franck LS (2008) A concept analysis of health-related quality of life in young people with chronic illness. J Clin Nurs 17:1823–1833
Tsang E, Birch P, Friedman J (2011) Valuing gene testing in children with possible neurofibromatosis 1. Clin Genet. doi:10.1111/j.1399-0004.2011.01801.x
Vardarinos A, Zafeiriou DI, Vargiami E, Pratsidou-Gertsi P, Kontopoulos E, Kanakoudi-Tsakalidou F (2009) Parental reports of health-related qualit of life in Greek children with neurofibromatosis type 1. J Pediatr 155(3):453
Wadman M (2007) Autism speaks: the United States pays up. Nature 448:628–629
Ware JJ, Sherbourne C (1992) The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30:473–483
Williams DS (2006) Neurofibromatosis. J Insur Med 38:69–71
Wolkenstein P, Zeller J, Revuz J, Ecosse E, Leplège A (2001) Quality-of-life impairment in neurofibromatosis type 1. A cross-sectional study of 128 cases. Arch Dermatol 137:1421–1425
Wolkenstein P, Rodriguez D, Ferkal S, Gravier H, Buret V, Algans N et al (2008) Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 cases. Br J Dermatol 160:844–848
Zoller M, Rembeck B (1999) A psychiatric 12-year follow-up of adult patinets wiht neurofibromatosis type 1. J Psychiatr Res 33:63–68
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Birch, P., Friedman, J.M. (2012). Quality of Life in NF1. In: Upadhyaya, M., Cooper, D. (eds) Neurofibromatosis Type 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-32864-0_8
Download citation
DOI: https://doi.org/10.1007/978-3-642-32864-0_8
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-32863-3
Online ISBN: 978-3-642-32864-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)