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Journal of Genetic Counseling

, Volume 24, Issue 6, pp 931–944 | Cite as

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

  • Hilda A. Crawford
  • Belinda Barton
  • Meredith J. Wilson
  • Yemima Berman
  • Valerie J. McKelvey-Martin
  • Patrick J. Morrison
  • Kathryn N. North
Original Research

Abstract

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.

Keywords

Neurofibromatosis 1 Adults Lives Wellbeing Cosmetic Uncertainty Learning difficulties Pain 

Notes

Acknowledgments

The authors wish to sincerely thank the individuals and families who gave their time to participate in this research. This study was supported by a research grant, the Wingfield George Anderson Bequest from The University of Ulster, Coleraine, Northern Ireland, United Kingdom (Ms Crawford) with additional funding by the Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, NSW, Australia.

Funding

This study was funded by The Wingfield George Anderson Bequest, Ulster University, Coleraine, UK.

Conflict of Interest

Authors Crawford, Barton, Wilson, Berman, McKelvey-Martin, Morrison and North 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

No animal studies were carried out by the authors for this article.

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Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  • Hilda A. Crawford
    • 1
    • 2
  • Belinda Barton
    • 1
    • 3
  • Meredith J. Wilson
    • 4
    • 5
  • Yemima Berman
    • 6
    • 7
  • Valerie J. McKelvey-Martin
    • 8
  • Patrick J. Morrison
    • 8
    • 9
  • Kathryn N. North
    • 10
  1. 1.The University of SydneySydneyAustralia
  2. 2.The Institute for Neuroscience and Muscle ResearchThe Children’s Hospital at WestmeadWestmeadAustralia
  3. 3.Children’s Hospital Education Research Institute (CHERI)The Children’s Hospital at WestmeadWestmeadAustralia
  4. 4.Department of Genetic MedicineWestmead HospitalWestmeadAustralia
  5. 5.Discipline of GeneticsUniversity of SydneySydneyAustralia
  6. 6.Department of Clinical GeneticsRoyal North Shore HospitalSt LeonardsAustralia
  7. 7.Discipline of MedicineUniversity of SydneySydneyAustralia
  8. 8.School of Pharmacy and Pharmaceutical SciencesUlster UniversityCo. LondonderryUK
  9. 9.Northern Ireland Regional Genetics Service, Department of Medical GeneticsBelfast City HospitalBelfastUK
  10. 10.Murdoch Childrens Research InstituteRoyal Children’s HospitalParkvilleAustralia

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