Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan

Abstract

Neurofibromatosis Type 1 (NF1) plexiform neurofibromas (pNFs) are associated with a variety of symptoms and concerns that affect patients' quality of life (QOL), highlighting the value of incorporating the patients' perspective when evaluating treatment outcomes. To better conceptualize the experience of patients with pNFs, this qualitative study sought to identify the most important outcomes to assess from the perspective of patients, families, and clinicians. Clinicians, patients age 5 years old and above, and parents of patients aged 5-17 years participated in semi-structured interviews to elicit the pNF symptoms/concerns considered most important to assess. The data were analyzed using an iterative coding procedure and the frequency with which symptoms/concerns emerged was tabulated. Eight clinicians, 31 patients, and 17 parents of patients participated in semi-structured interviews. The most frequently reported concerns raised by patients across all age groups included pain, appearance/disfigurement, social activity/role participation, stigma, and anxiety. For parents, physical functioning was the primary concern, followed by pain, social activity/role participation, appearance/disfigurement, and social relationships. The resulting conceptual framework included five domains to represent the most important identified symptoms/concerns: pain, social functioning, physical function impact, stigma, and emotional distress. This conceptual framework describing the symptoms/concerns of patients with pNF can help investigators create a measurement system to improve assessment of aspects of QOL only patients can report on. It may also provide the ability to identify symptoms/concerns that might warrant referrals to various clinical disciplines. © 2016 Wiley Periodicals, Inc.

The health‐related quality of life of children, adolescents, and young adults with neurofibromatosis type 1 and their families: Analysis of narratives

“…Our findings also resonate with a qualitative study that explored the perspectives of patients aged 5 and above with NF1, parents of patients aged 5–17, and clinicians regarding the HRQoL concerns that would be most important for clinicians to address (Lai, Jensen, Patel, Listernick, & Charrow, ). The patients were most concerned about pain, appearance/disfigurement, social activity/role participation, stigma, and anxiety.…”

Characteristics, Treatment Patterns, Healthcare Resource Use, and Costs among Pediatric Patients Diagnosed with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Retrospective Database Analysis of a Medicaid Population

“…First, it includes race data that are not available in other Marketscan® databases. In comparison to previously published observational studies in the United States, which drew from sources such as the National NF Registry/Lurie Children's Hospital in Chicago (27,28), the National Cancer Institute's natural history cohort (23,29), and the Cincinnati Children's Hospital (30), our study population had a lower proportion of White patients and a higher proportion of Black patients. Thus, our results provide insight into a different cross-section of NF1 patients than might be seen with other data sources.…”

Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review

“…Malignant transformation of neurofibromas to MPNSTs is possible [ 24 ]. It has been reported that most MPNSTs arise from preexisting plexiform neurofibromas and metastasise throughout the body [ 25 ].…”