Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
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Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62.0% females) recruited from non-clinical settings. Several HQoL domains, including life satisfaction, mental health, sleep, pain, gastrointestinal problems, oral health, and social support, were compared between the NF1 sample and 46,293 controls from the HUNT3 population study. We also examined gender differences within the NF1 sample and predictors of HQoL. Compared to controls, the NF1 sample reported significantly poorer life satisfaction, mental health, sleep, and oral health, and more pain, gastrointestinal problems, comorbid diseases, and memory problems. Several HQoL domains were significantly correlated. Mental health was the only unique significant predictor of overall life satisfaction. Women with NF1 reported significantly more mental health, sleep, and pain problems than men with NF1. Mental health assessment and management should be integrated into clinical care of persons with NF1 to potentially improve their HQoL.
KeywordsNeurofibromatosis NF1 Quality of life Mental health
We would like to thank the Norwegian Union for Neurofibromatosis, Eva Elisabeth Næss, and Grete Hummelvoll for their help with design and data collection.
Compliance with Ethical Standards
Conflict of Interest
K.W.F., L.N., Ø.J.K., A.H., and L.B.H. declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
This article does not contain any studies with animals performed by any of the authors.
- Agaimy, A., Vassos, N., & Croner, R. S. (2012). Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen’s disease): clinicopathological spectrum with pathogenetic considerations. International Journal of Clinical and Experimental Pathology, 5(9), 852–862.PubMedPubMedCentralGoogle Scholar
- Crawford, H. A., Barton, B., Wilson, M. J., Berman, Y., McKelvey-Martin, V. J., Morrison, P. J., & North, K. N. (2015). The impact of neurofibromatosis type 1 on the health and wellbeing of Australian adults. Journal of Genetic Counseling, 24(6), 931–944. https://doi.org/10.1007/s10897-015-9829-5 CrossRefPubMedGoogle Scholar
- Descheemaeker, M. J., Ghesquiere, P., Symons, H., Fryns, J. P., & Legius, E. (2005). Behavioural, academic and neuropsychological profile of normally gifted neurofibromatosis type 1 children. Journal of Intellectual Disability Research, 49, 33–46. https://doi.org/10.1111/j.1365-2788.2005.00660.x CrossRefPubMedGoogle Scholar
- Descheemaeker, M. J., Plasschaert, E., Fryns, J. P., & Legius, E. (2013). Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group. Journal of Intellectual Disability Research, 57(9), 874–886. https://doi.org/10.1111/j.1365-2788.2012.01648.x CrossRefPubMedGoogle Scholar
- Ferner, R. E., & Gutmann, D. H. (2013). Neurofibromatosis type 1 (NF1): diagnosis and management. Handbook of Clinical Neurology, 115, 939–955. https://doi.org/10.1016/b978-0-444-52902-2.00053-9 CrossRefPubMedGoogle Scholar
- Ferner, R. E., Thomas, M., Mercer, G., Williams, V., Leschziner, G. D., Afridi, S. K., & Golding, J. F. (2017). Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the impact of NF1 on quality of life (INF1-QOL) questionnaire. Health and Quality of Life Outcomes, 15, 34. https://doi.org/10.1186/s12955-017-0607-y CrossRefPubMedPubMedCentralGoogle Scholar
- Hyman, S. L., Shores, A., & North, K. N. (2005). The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology, 65(7), 1037–1044. https://doi.org/10.1212/01.wnl.0000179303.72345.ce CrossRefPubMedGoogle Scholar
- Javed, F., Ramalingam, S., Ahmed, H. B., Gupta, B., Sundar, C., Qadri, T, … & Romanos, G. E. (2014). Oral manifestations in patients with neurofibromatosis type-1: a comprehensive literature review. Critical Reviews in Oncology Hematology, 91(2), 123–129. doi: https://doi.org/10.1016/j.critrevonc.2014.02.007.CrossRefGoogle Scholar
- Mannsverk, J., Wilsgaard, T., Njølstad, I., Hopstock, L. A., Løchen, M.-L., Mathiesen, E. B., Thelle, D. S., Rasmussen, K., & Bønaa, K. H. (2012). Age and gender differences in incidence and case fatality trends for myocardial infarction: a 30-year follow-up. The Tromsø study. European Journal of Preventive Cardiology, 19(5), 927–934. https://doi.org/10.1177/1741826711421081 CrossRefPubMedGoogle Scholar
- Nutakki, K., Hingtgen, C. M., Monahan, P., Varni, J. W., & Swigonski, N. L. (2013). Development of the Adult PedsQL (TM) neurofibromatosis type 1 module: initial feasibility, reliability and validity. Health and Quality of Life Outcomes, 11. doi: https://doi.org/10.1186/1477-7525-11-21.CrossRefGoogle Scholar
- Page, P. Z., Page, G. P., Ecosse, E., Korf, B. R., Leplege, A., & Wolkenstein, P. (2006). Impact of neurofibromatosis 1 on quality of life: a cross-sectional study of 176 American cases. American Journal of Medical Genetics Part A, 140A(18), 1893–1898. https://doi.org/10.1002/ajmg.a.31422 CrossRefGoogle Scholar
- Pinkerton, K. E., Harbaugh, M., Han, M. K., Jourdan Le Saux, C., Van Winkle, L. S., Martin, W. J., … George, M. (2015). Women and lung disease. Sex differences and global health disparities. American Journal of Respiratory and Critical Care Medicine, 192(1), 11–16. doi: https://doi.org/10.1164/rccm.201409-1740PP.CrossRefGoogle Scholar
- Schmulson, M., Adeyemo, M., Gutierrez-Reyes, G., Charua-Guindic, L., Farfan-Labonne, B., … & Chang, L. (2010). Differences in gastrointestinal symptoms according to gender in Rome II positive IBS and dyspepsia in a Latin American population. American Journal of Gastroenterology, 105:925–932; doi: https://doi.org/10.1038/ajg.2010.58.CrossRefGoogle Scholar
- Vranceanu, A. M., Merker, V. L., Park, E., & Plotkin, S. R. (2013). Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature. Journal of Neuro-Oncology, 114(3), 257–262. https://doi.org/10.1007/s11060-013-1195-2 CrossRefPubMedGoogle Scholar