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Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1102–1110 | Cite as

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls

  • Krister W. Fjermestad
  • Livø Nyhus
  • Øivind J. Kanavin
  • Arvid Heiberg
  • Lise B. Hoxmark
Original Research
  • 147 Downloads

Abstract

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.

Keywords

Neurofibromatosis NF1 Quality of life Mental health 

Notes

Acknowledgements

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.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  • Krister W. Fjermestad
    • 1
    • 2
  • Livø Nyhus
    • 1
  • Øivind J. Kanavin
    • 1
  • Arvid Heiberg
    • 3
  • Lise B. Hoxmark
    • 1
  1. 1.Frambu Resource Centre for Rare DisordersSiggerudNorway
  2. 2.Department of PsychologyUniversity of OsloOsloNorway
  3. 3.Department of Medical GeneticsOslo University HospitalOsloNorway

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