Worries and needs of adults and parents of adults with neurofibromatosis type 1

Andre B Rietman, Hanneke van Helden, Pauline H Both, Walter Taal, Jeroen S Legerstee, AnneLoes van Staa, Henriette A Moll, Rianne Oostenbrink, Agnies M van Eeghen

Research output: Contribution to journalArticleAcademicpeer-review

26 Citations (Scopus)


Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow-up of adults with NF1 often focuses on tumor growth, follow-up of cognitive or social problems and other NF1-related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi-structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care. Four focus groups were conducted, including young adult patients, patients over age 30, and parents of young adult patients. In total, 30 patients and 12 parents participated. Data were transcribed verbatim and analyzed by computerized thematic analysis. Themes were organized using the World Health Organization International classification of functioning, disability, and health (ICF). Results indicated many and diverse worries and care needs both during the transitional period and in adulthood in medical, mental health, and socioeconomic domains. Worries could be categorized into 13 themes. Parents reported high stress levels and difficulties with their parental role. Participants expressed the need for more information, access to NF1 experts, daily living support, care for mental health and socioeconomic participation, and closer communication between health-care providers. In conclusion, worries and needs of patients and parents underline the importance of multidisciplinary follow-up and continuity of care during and after the transitional period. Additionally, parental stress requires more attention from care providers.

Original languageEnglish
Pages (from-to)1150-1160
Number of pages11
JournalAmerican journal of medical genetics. Part A
Issue number5
Publication statusPublished - 1 May 2018
Externally publishedYes


  • Activities of Daily Living
  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Anxiety
  • Disabled Persons
  • Environment
  • Female
  • Focus Groups
  • Health Services Needs and Demand
  • Humans
  • ICF classification
  • Male
  • Mental Health
  • Middle Aged
  • Neurofibromatosis 1/epidemiology
  • Parents/psychology
  • Qualitative Research
  • Young Adult
  • adults
  • neurofibromatosis 1
  • transition

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