Advertisement

Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood

  • Sally E. Jensen
  • Zabin S. Patel
  • Robert Listernick
  • Joel Charrow
  • Jin-Shei Lai
Article

Abstract

This secondary data analysis qualitatively identified salient concerns reported by individuals with Neurofibromatosis Type 1 (NF1)-associated plexiform neurofibromas (pNFs) at different stages of development. Past literature has focused on overall symptomatology, but has not examined nuances in how these symptoms are experienced across developmental phases. Therefore, we aimed to identify commonalities and differences in symptom experiences across age groups to better assist individuals to adjust to symptoms across the lifespan. Thirty-one children, adolescents, and adults (age ≥ 5 years old) and 15 parents participated in semi-structured interviews. Analyses focused on the following symptom categories: pain, social functioning, physical function impact, and stigma. Aspects of pain endorsed by all age groups included localized brief pain on contact with pNF and abnormal sensations; however, only adolescents and adults reported chronic pain and change in pain over time. Social functioning themes of limited activity participation, role limitations, and relationship impact were endorsed by all age groups, but differences emerged across age groups in the types of activity and role limitations, the type of relationship impact, and family planning concerns. All age groups described difficulty with mobility, but only parents reported problems with coordination and physical developmental milestones. While all age groups reported external stigma, internalized stigma was predominately endorsed by adults. While individuals in all age groups described pNF concerns related to pain, social function, physical function, and stigma, specific aspects of these symptoms differed across the developmental continuum. These findings can help assist individuals with pNF better transition to the next developmental phases.

Keywords

Neurofibromatosis Type 1 Plexiform neurofibroma Qualitative Symptoms Lifespan 

Notes

Acknowledgements

The authors would like to thank all patients and parents who shared their concerns with us and Ms. Pamela Knight from the Children’s Tumor Foundation who helped to identify potential interview participants. The authors would also like to thank Dr. Jaishri Blakeley for her input in conceptualizing this manuscript. This project was supported by the Neurofibromatosis Therapeutic Acceleration Program (NTAP).

Compliance with Ethical Standards

Conflict of interest

Sally E. Jensen, Zabin S. Patel, Robert Listernick, Joel Charrow, and Jin-Shei Lai declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Participants recruited from the Ann & Robert H. Lurie Children’s Hospital of Chicago provided informed consent. Informed consent was not required for all other participants because the study was exempted from review by the Northwestern University Institutional Review Board.

References

  1. Barke, J., Coad, J., & Harcourt, D. (2016). The role of appearance in adolescents’ experiences of neurofibromatosis Type 1: A survey of young people and parents. Journal of Genetic Counseling, 25(5), 1054–1062.CrossRefGoogle Scholar
  2. Barke, J., Harcourt, D., & Coad, J. (2014). ‘It’s like a bag of pick and mix—you don’t know what you are going to get’: Young people’s experience of neurofibromatosis Type 1. Journal of Advanced Nursing, 70(7), 1594–1603.CrossRefGoogle Scholar
  3. Barton, B., & North, K. (2007). The self-concept of children and adolescents with neurofibromatosis type 1. Child: Care, Health and Development, 33(4), 401–408.Google Scholar
  4. Beresford, B. (2004). On the road to nowhere? Young disabled people and transition. Child: Care, Health and Development, 30(6), 581–587.Google Scholar
  5. Camfield, P., & Camfield, C. (2011). Transition to adult care for children with chronic neurological disorders. Annals of Neurology, 69(3), 437–444.CrossRefGoogle Scholar
  6. 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.CrossRefGoogle Scholar
  7. Dombi, E., Solomon, J., Gillespie, A. J., Fox, E., Balis, F. M., Patronas, N., … Widemann, B. C. (2007). NF1 plexiform neurofibroma growth rate by volumetric MRI: Relationship to age and body weight. Neurology, 68(9), 643–647.CrossRefGoogle Scholar
  8. Evans, D. G., Howard, E., Giblin, C., Clancy, T., Spencer, H., Huson, S. M., & Lalloo, F. (2010). Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service. American Journal of Medical Genetics Part A, 152(2), 327–332.CrossRefGoogle Scholar
  9. Friedman, J. M. (2002). Neurofibromatosis 1: Clinical manifestations and diagnostic criteria. Journal of Child Neurology, 17(8), 548–554. (Discussion 571–542, 646–551).CrossRefGoogle Scholar
  10. Graf, A., Landolt, M. A., Mori, A. C., & Boltshauser, E. (2006). Quality of life and psychological adjustment in children and adolescents with neurofibromatosis Type 1. Journal of Pediatrics, 149(3), 348–353.CrossRefGoogle Scholar
  11. Hummelvoll, G., & Antonsen, K. M. (2013). Young adults’ experience of living with neurofibromatosis Type 1. Journal of Genetic Counseling, 22(2), 188–199.CrossRefGoogle Scholar
  12. Kennedy, A., Sloman, F., Douglass, J. A., & Sawyer, S. M. (2007). Young people with chronic illness: The approach to transition. Internal Medicine Journal, 37(8), 555–560.CrossRefGoogle Scholar
  13. Kirk, S. (2008). Transitions in the lives of young people with complex healthcare needs. Child: Care, Health and Development, 34(5), 567–575.Google Scholar
  14. Korf, B. R. (1999). Plexiform neurofibromas. American Journal of Medical Genetics, 89(1), 31–37.CrossRefGoogle Scholar
  15. Krab, L. C., Oostenbrink, R., de Goede-Bolder, A., Aarsen, F. K., Elgersma, Y., & Moll, H. A. (2009). Health-related quality of life in children with neurofibromatosis type 1: Contribution of demographic factors, disease-related factors, and behavior. Journal of Pediatrics, 154(3), 420–425, 425.e421.CrossRefGoogle Scholar
  16. Lai, J. S., Jensen, S. E., Patel, Z. S., Listernick, R., & Charrow, J. (2017). Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis Type 1 associated plexiform neurofibromas (pNF) across the lifespan. American Journal of Medical Genetics, Part A, 173(1), 79–87.CrossRefGoogle Scholar
  17. Martin, S., Wolters, P., Baldwin, A., Gillespie, A., Dombi, E., Walker, K., & Widemann, B. (2012). Social-emotional functioning of children and adolescents with neurofibromatosis Type 1 and plexiform neurofibromas: Relationships with cognitive, disease, and environmental variables. Journal of Pediatric Psychology, 37(7), 713–724.CrossRefGoogle Scholar
  18. Mautner, V. F., Asuagbor, F. A., Dombi, E., Funsterer, C., Kluwe, L., Wenzel, R., … Friedman, J. M. (2008). Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro-Oncology, 10(4), 593–598.CrossRefGoogle Scholar
  19. Merker, V. L., Bredella, M. A., Cai, W., Kassarjian, A., Harris, G. J., Muzikansky, A., … Plotkin, S. R. (2014). Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. American Journal of Medical Genetics, Part A, 164(6), 1431–1437.CrossRefGoogle Scholar
  20. Pride, N. A., Crawford, H., Payne, J. M., & North, K. N. (2013). Social functioning in adults with neurofibromatosis Type 1. Research in Developmental Disabilities, 34(10), 3393–3399.CrossRefGoogle Scholar
  21. Tucker, T., Friedman, J. M., Friedrich, R. E., Wenzel, R., Funsterer, C., & Mautner, V. F. (2009). Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. Journal of Medical Genetics, 46(2), 81–85.CrossRefGoogle Scholar
  22. Van Lierde, A., Menni, F., Bedeschi, M. F., Natacci, F., Guez, S., Vizziello, P., … Esposito, S. (2013). Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and Williams-Beuren syndrome. American Journal of Medical Genetics, Part A, 161(7), 1666–1674.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Sally E. Jensen
    • 1
  • Zabin S. Patel
    • 1
  • Robert Listernick
    • 2
    • 3
    • 4
  • Joel Charrow
    • 2
    • 3
    • 5
  • Jin-Shei Lai
    • 1
    • 2
    • 3
    • 6
  1. 1.Department of Medical Social SciencesNorthwestern University Feinberg School of MedicineChicagoUSA
  2. 2.Department of PediatricsNorthwestern University Feinberg School of MedicineChicagoUSA
  3. 3.Ann & Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  4. 4.Division of Academic General PediatricsNorthwestern University Feinberg School of MedicineChicagoUSA
  5. 5.Division of Genetics, Birth Defects and MetabolismNorthwestern University Feinberg School of MedicineChicagoUSA
  6. 6.Department of Medical Social Sciences and PediatricsFeinberg School of Medicine at Northwestern UniversityChicagoUSA

Personalised recommendations