Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

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  • Karoline Doser, Danish Cancer Society
  • ,
  • Elisabeth Wreford Andersen, Danish Cancer Society
  • ,
  • Line Kenborg, Danish Cancer Society
  • ,
  • Susanne Oksbjerg Dalton, Danish Cancer Society, University of Copenhagen
  • ,
  • Jens Richardt Møllegaard Jepsen, University of Copenhagen
  • ,
  • Anja Krøyer, Danish Cancer Society
  • ,
  • John Østergaard
  • Hanne Hove, University of Copenhagen
  • ,
  • Sven Asger Sørensen, University of Copenhagen
  • ,
  • Christoffer Johansen, Danish Cancer Society, University of Copenhagen
  • ,
  • John Mulvihill, University of Oklahoma
  • ,
  • Jeanette Falck Winther
  • Pernille Envold Bidstrup, Danish Cancer Society, University of Copenhagen

Neurofibromatosis type 1 (NF1) is a genetic condition characterized by numerous somatic manifestations. The psychosocial burden in adults has rarely been studied. We examined the prevalence of self-reported impairment of quality of life (QoL), symptoms of anxiety and depression and need for support, associated with disease severity and visibility. We conducted a nationwide cross-sectional study of all 467 adults with NF1 diagnosed between 1977 and 2016 at one of the two national centers for rare diseases in Denmark. A total of 244 (56% response rate) completed a questionnaire that included standard measures of QoL, symptoms of depression and anxiety, indicators of disease-related severity, visibility, and need for professional support. Associations between disease severity and visibility and psychosocial burden were analyzed in descriptive and multivariate models. We observed impaired QoL (mean = 81.3; 95% CI, 76.2; 86.4); 19% reported symptoms of depression (mean = 5.7; SD = 5.4), and 15% reported anxiety (mean = 5.1; SD = 5.2) at a clinical level. Adults with NF1 also reported requiring professional support for physical, psychological, and work-related problems. Disease severity and (partly) visibility were significantly (p <.0001) associated with psychosocial well-being and a requirement for support. This study provides new understanding of the factors associated with impaired QoL, indicating that follow-up care should be optimized into adult life.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Pages (from-to)1704-1715
Publication statusPublished - Jul 2020

    Research areas

  • adults, nationwide, need for support, neurofibromatosis type 1, population-based, psychosocial burden

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