ArticleAmerican journal of medical genetics. Part A2018
Worries and needs of adults and parents of adults with neurofibromatosis type 1.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 62 citations in OpenAlex.
- Perspectives of Adult Patients and Caregivers on the Management and Challenges Associated with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Multinational Qualitative Survey.Neurology and therapy · 2026Article
- Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- The social construction of the "good doctor": Expectations of physicians among adults with NF1.Journal of community genetics · 2026Article
- Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- "Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1.Orphanet journal of rare diseases · 2026Article
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- Development of an adult neurofibromatosis clinic in the comprehensive cancer center setting and descriptive analysis of the first 100 patients with neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Article
- Clinical and Humanistic Burden Among Adults with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibroma in the United States.Neurology and therapy · 2026Article
- Standalone NF1: guiding the transition from paediatric to adult care.Drugs in context · 2026Article
- Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.Journal of intellectual disability research : JIDR · 2026Article
- Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision-making processes.Journal of genetic counseling · 2025Article
- "To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1.Orphanet journal of rare diseases · 2025Article
- Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.Journal of neurodevelopmental disorders · 2025Article
- Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1.Journal of genetic counseling · 2025Article
- Lifelong Management of Neurofibromatosis 1 Patients.Journal of Korean Neurosurgical Society · 2025Article
- 'Mind the Gap'-A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability.Journal of intellectual disability research : JIDR · 2025Article
- (Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland.Frontiers in genetics · 2025Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1.The Journal of dermatology · 2024Article
- Perceived transition readiness among adolescents and young adults with neurofibromatosis type 1 and plexiform neurofibromas: a cross-sectional descriptive study.Journal of pediatric psychology · 2024Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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