ABSTRACT
Background: Despite extensive knowledge about the quality of life of people suffering from rare diseases, data on patients with Marfan syndrome (MFS) are scarce and inconsistent. Hence, the problem of assessing the quality of life (QOL) and its relationship with the assessment of which ailments are the most burdensome for these patients is still open. Aim: Comparison of the quality of life of patients with MFS and determination as to which of the reported complaints in patients with MFS are related to the QOL of patients. Methods: The study included 35 patients with MFS and 35 healthy controls, matched for gender and age. In the study, the questionnaire of quality of life assessment SF-36 was used to assess the level of health-related quality of life, as well as an interview of the most severe symptoms reported by patients with MFS. Results: The level of the physical dimension of the QOL (p < 0.001) and limiting of roles due to physical health (p = 0.002), as well as the level of general index of the QOL (p < 0.001), were statistically significantly lower in MFS patients when compared to controls. People from both studied groups do not vary in the scope of pain, vitality, social functioning, limiting the roles due to emotional problems, and state of mind but also in the mental dimension of the health-related quality of life (HRQL). Additionally, there has been a correlation between HRQL and the subjective assessment of the effects of orthopedic, ophthalmic, and cardiological problems in life, as well as lower exercise tolerance in the evaluation of people with MFS and QOL in most areas. Conclusions: Patients with MFS present a reduced QOL in the areas of physical functioning, limiting roles due to physical health, general feeling of general health, the physical dimension of the HRQL, and the general index of the QOL; in these areas, they require careful evaluation, as well as medical and psychosocial assistance.
Subject(s)
Cardiovascular System , Marfan Syndrome , Humans , Marfan Syndrome/psychology , Poland , Quality of Life/psychology , Surveys and QuestionnairesABSTRACT
OBJECTIVES: The purpose of the study was to analyze the functioning of afamily as perceived by a person with Marfan syndrome and to look for relationships between the characteristics of the system and the overall quality of life of the ill. METHODS: Participants included 33 individuals with Marfan syndrome and 33 individuals without chronic illness. We used the Family Evaluation Scale - the Polish adaptation of the FACES-IVby D.H. Olson and the Satisfaction with Life Scale (SWLS) by Diener, Emmons, Larson and Griffin. RESULTS: People with Marfan syndrome perceive their families as significantly less coherent and significantly more disengaged than people without chronic illness. This family system of people with Marfan syndrome can be characterized by low scores on the "Cohesion" and "Flexibility" and high scores on the other four scales showing the level of imbalance of the family as a system, which makes this family profile similar to an ?unbalanced' system. Life satisfaction of people with Marfan syndrome correlated positively with "Cohesion", "Flexibility" and "Family Satisfaction" as features of family system perceived by them. CONCLUSIONS: The obtained results confirm the importance of supporting families of people with Marfan syndrome and specialist help aimed at dealing with emotional burden related to the health of the patient.
Subject(s)
Marfan Syndrome , Quality of Life , Chronic Disease , Family , Humans , Personal SatisfactionABSTRACT
INTRODUCTION: The aim of this study is to validate the Polish version of the Urethral Stricture Surgery - Patient-Reported Outcome Measure (USS-PROM) by evaluating its psychometric properties. MATERIAL AND METHODS: Patients with urethral stricture scheduled for urethroplasty between 2014 and 2018 were prospectively enrolled. The results of the USS-PROM were obtained before the operation, and during follow-up visits. The original USS-PROM was translated into Polish and re-translated into English in accordance with the guidelines by Dawson et al. regarding the adaptation process. Psychometric assessment included internal consistency, test-retest reliability, criterion validity and responsiveness. RESULTS: One hundred twelve patients were included. 54 patients completed the USS-PROM both before and 3 months after the surgery and 39 of them completed the questionnaire 6 months after the surgery to evaluate the test-retest reliability. Cronbach's α for internal consistency of the lower urinary tract symptoms (LUTS) domain score was 0.87. The test-retest intraclass correlation coefficient was 0.82. Spearman's coefficients showed no correlation between USS-PROM's result and maximal urinary flow (Qmax) result before the surgery (rs = 0.13; p >0.05) and a positive correlation between USS-PROM's result and Qmax result at follow up: 3 months after (rs =- 0.56; p <0.05), 6 months after (rs -0.64; p <0.05), and 12 months after (rs = -0.85; p <0.05). There were statistically significant strong and positive correlations between LUTS score and International Prostate Symptom Score (IPSS). Responsiveness of the test was confirmed with non-parametric Friedman's analysis of variance (ANOVA) with Kendall's coefficient of concordance (χ2 ANOVA = 8.95, p = 0.03). CONCLUSIONS: The Polish version of the USS-PROM questionnaire has appropriate psychometric properties and can be used in the assessment of patients with urethral stricture undergoing urethroplasty.
