ArticleJournal of genetic counseling2015
The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults.
Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Educational delay and attainment in persons with neurofibromatosis 1 in Denmark.European journal of human genetics : EJHG · 2019Trial
- Decision-Making Around Preimplantation Genetic Testing by Individuals With Neurofibromatosis Type I: A Qualitative Study.Journal of genetic counseling · 2026Article
- Management of plexiform neurofibromas in neurofibromatosis type 1: An Italian Delphi consensus.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 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
- Appearance-related stigma and its implications for genetic counselling practice.Journal of community genetics · 2026Article
- Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study.European journal of human genetics : EJHG · 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
- Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1.Journal of genetic counseling · 2025Article
- (Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland.Frontiers in genetics · 2025Article
- The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1.The Journal of dermatology · 2024Article
- Quality of life of patients with neurofibromatosis 1-Physical disability does not necessarily result in poor mental health.Frontiers in neurology · 2024Article
- A Practical Guide to Sigma-1 Receptor Positron Emission Tomography/Magnetic Resonance Imaging: A New Clinical Molecular Imaging Method to Identify Peripheral Pain Generators in Patients with Chronic Pain.Seminars in musculoskeletal radiology · 2023Article
- Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1.Familial cancer · 2023Article
- Factors associated with pediatric genetic counselors' practices related to bullying screening.Journal of genetic counseling · 2023Article
- Characterization of health concerns in people with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2023Article
- Quality of life in patients with neurofibromatosis type 1: a nationwide database study in Japan from 2015 to 2019.Environmental health and preventive medicine · 2023Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The complications of neurofibromatosis type 1 (NF1) are widespread, unpredictable and variable and each person's experience of this disorder is unique. However, few studies have addressed the impact of NF1 from an individual's perspective. This qualitative study aims to identify the ways in which NF1 impacts upon affected Australian adults. Sixty adults with NF1, with a range of disease severity and visibility participated in a semi-structured interview about the ways in which NF1 impacted upon their life and health. Data were analyzed using grounded theory methodology. Results indicated that NF1 impacts upon affected adults in five major ways: 1) cosmetic burden of disease 2) learning difficulties 3) concerns about the risk of passing NF1 to offspring 4) uncertain disease progression, and 5) pain. Participants identified the aspects of NF1 that bothered them the most, creating a hierarchy of NF1 concerns within the cohort. Importantly, mildly affected adults shared many of the same concerns as those more severely affected. This study enhances our current understanding of the impact of NF1 in adulthood, and augments existing recommendations for the care of these patients.
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