Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood
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.
KeywordsNeurofibromatosis Type 1 Plexiform neurofibroma Qualitative Symptoms Lifespan
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.
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.
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.
- 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
- Beresford, B. (2004). On the road to nowhere? Young disabled people and transition. Child: Care, Health and Development, 30(6), 581–587.Google Scholar
- 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
- 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
- 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
- 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
- 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
- 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