Background There is scarce data on the quality of life of people with neurofibromatosis type 1 (NF1) and type 2 (NF2) in Canada. Methods A cross-sectional study of adults with NF1 and NF2 attending a tertiary center. Patients completed generic measures (SF-36, EQ-5D-5L, and PROMIS pain interference) and disease-specific questionnaires (PedsQL NF1 module and the NFTI-QOL for NF2). We compared generic scores between NF1 and NF2 individuals and used regression models to assess factors associated with quality of life. Results Hundred and eighty-four participants were enrolled. Mean age was 33 years in NF1 and 40 years in NF2. NF1 and NF2 individuals had lower employment rates and lower scores in all domains of the SF-36 compared to the general Canadian population (P < .005). Using the EQ-5D-5L, there was a high proportion of pain (64% in NF1 and 74% in NF2) and anxiety/depression (60% in NF1 and 68% in NF2). Pain interference correlated with poor quality of life in NF1 and NF2; perceived physical appearance was the main predictor of mental well-being in NF1. Conclusions Individuals with NF1 and NF2 have low quality of life, and this correlates with pain, anxiety, and depression, which are prevalent in NF1 and NF2. Perceived physical appearance predicts quality of life in NF1. A multidisciplinary approach is necessary for patients with NF1 and NF2, including mental health and pain management.

AbstractÊObjectives. To assess the validity of the Filipino-translated version of the Michigan Neuropathy Screening Instrument (MNSI) in screening for diabetic neuropathy among Filipino patients with diabetes mellitus using nerve conduction velocity (NCV) as gold standard and to determine the most accurate cut-off score for the diagnosis of neuropathy using MNSI. Methodology. A cross-sectional analytic study was done among adult diabetic patients. The original MNSI Questionnaire was translated and back-translated to the Filipino language. Each patient answered the Filipino version of MNSI Questionnaire followed by a lower extremity examination done by the investigator. All patients underwent NCV as reference standard. Sensitivity and specificity of MNSI were determined.Results. We studied a total of 150 subjects. Eighty-seven (58%) were diagnosed to have diabetic neuropathy based on NCV. The sensitivity and specificity of the MNSI Questionnaire improved to 73.6% and 52.4% respectively when the cut off was reduced to ≥4, whereas for the MNSI Examination, the sensitivity and specificity improved to 86.2% and 55.6% respectively when the cut off was reduced to ≥1. Combining both MNSI Questionnaire and MNSI Examination further improves the sensitivity to 95.4% whereas specificity is at 39.7%.Conclusion. The analyses in 150 subjects confirm that the Filipino-version of MNSI is a valid screening tool for diabetic neuropathy when compared with NCV as gold standard.

Background There 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. Methods This 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. Results One 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. Conclusion Women 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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