ArticleOrphanet journal of rare diseases2022
A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Gut microbiome alterations are sex-dependently associated with brain abnormalities in a mouse model of Neurofibromatosis type I.Molecular psychiatry · 2026Article
- Systemic skewing of peripheral blood leukocyte composition in neurofibromatosis type 1.Frontiers in immunology · 2026Article
- Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1.JID innovations : skin science from molecules to population health · 2025Review
- From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care.Orphanet journal of rare diseases · 2025Review
- Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1.Journal of genetic counseling · 2025Article
- Article
- Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.Orphanet journal of rare diseases · 2024Article
- Long-term distress throughout one's life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China.Frontiers in public health · 2024Article
- Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior.Children (Basel, Switzerland) · 2023Article
- RASopathies and cardiac manifestations.Frontiers in cardiovascular medicine · 2023Review
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Authors and funding
6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in Canada.
methodsThis is a cross sectional study of adults with Neurofibromatosis type 1 attending a tertiary NF centre at Toronto General Hospital between January 2016 to December 2017. Demographic and clinical data were collected. We compared scores of generic measures (SF-36, EQ-5D-5L, pain interference) and a disease-specific measure (PedsQL-NF1 module) between women and men. We also assessed the relationship between disease visibility scored by an examiner (Ablon's visibility index) and self-reported perceived physical appearance, stratified by gender.
resultsOne hundred and sixty-two participants were enrolled, 92 females and 70 males. Ablon's index score 1 was in 43% and score 2 in 44%, while only 13% of patients had a score 3. Women had worse scores on the total PedsQL-NF1 scales, and also in the perceived physical appearance, anxiety and emotional health domains. In women, there was a low but significant correlation between Ablon's index and perceived physical appearance (r = - 0.27, p = 0.01, ANOVA p < 0.001). In men, there was no difference in self-reported physical appearance by Ablon's index. There were no differences between men and women in the SF-36 or EQ-5D-5L scores.
conclusionWomen with NF1 reported worse NF1-related quality of life than men, with worse perceived physical appearance, anxiety, and mental health. Perceived physical appearance does not always correlate to disease visibility; therefore, healthcare providers should inquire about body image, physical appearance concerns, and mental health, especially among women with NF1.
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