Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring

Abstract

Neurofibromatosis type 1 (NF1) is a common genetic disorder characterised by skin stigmata, benign and malignant tumours, neurological deficit, cognitive dysfunction and disfigurement. Disease expression is variable and complications unpredictable. Few studies have examined the quality-of-life (QOL) of adults with NF1. The aims of this study were to investigate the ways NF1 impacts on the health, wellbeing and QOL of adults by developing an adult disease specific QOL questionnaire, conducting an in depth exploration of adults’ life experiences and ascertaining their level of health care. A mixed methods cross-sectional study of Australian adults with NF1 (aged 18 - 40 years) was conducted. Item development of the adult NF1 specific QOL (NF1-AdQOL) questionnaire was based on existing literature and participant interviews. Adults (n = 114) completed the NF1-AdQOL, the Skindex-29 and the Short Form-36v2 QOL questionnaires, participated in a semi-structured interview (n = 94, 82%) and completed an evaluation of self-care (n = 87, 76%). An exploratory factor analysis and a multi-trait multi-method (MTMM) analysis were conducted to assess construct validity of the NF1-AdQOL. Internal consistency was measured using Cronbach’s alpha. Interview transcripts were analysed using grounded theory qualitative research methodology. Adults (68 females, 46 males) participated. Factor analysis of NF1-AdQOL items indicated that 62.7% of the common variance could be explained by three factors labelled as ‘emotions associated with cosmetic appearance’ (12 items), ‘social functioning and learning’ (11 items) and ‘symptoms’ (8 items). NF1-AdQOL demonstrated good internal consistency (Cronbach’s a coefficient = 0.96). MTMM results indicated that scales of the NF1-AdQOL had high convergent validity with similarly named scales of the other QOL questionnaires. Qualitative analysis identified cosmetic NF1 was of greatest concern to adults. Analysis of health monitoring behaviours indicated that half of participants had no regular health monitoring and had deficits in self-care. Findings provide preliminary evidence that NF1-AdQOL is a valid disease-specific tool to measure QOL in adults with NF1. Adults’ cosmetic concerns and patient education about the NF1 disorder should be addressed.