Facing the complex challenges of people with epidermolysis bullosa in Austria: a mixed methods study on burdens and helpful practices.

BACKGROUND: With approximately 500 people affected in Austria, epidermolysis bullosa (EB) is a rare genetic skin disease reducing the quality of life of those affected and their relatives. The intensive efforts of the patient organisation DEBRA Austria during the last decades have led to a unique situation of those affected and their relatives, with increased support and broader knowledge about the disease in the general population. The aim of the study is to evaluate the current situation of patients and their relatives living in Austria, with a focus on burdens and helpful practices. RESULTS: The mixed-methods study consisted of two parts: a qualitative interview study to identify psychosocial aspects of EB in those affected and their relatives, and a subsequent online survey to further assess those aspects in a larger sample, resulting in a total of n=78 Austrian participants. The impact of EB on the quality of life of EB patients and their relatives in Austria is related to the current health status, psychological burden, mobility, visibility, financial situation as well as job prospects. Personal and social resources and external support have a significant influence on the individual situation. CONCLUSIONS: The outcome is mapped to concrete implications regarding targeted support for EB patients and their relatives on an individual level and their needs in regard to the Austrian health care system.

Translation, cultural adaptation and validation of the German Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire.

Epidermolysis bullosa (EB) is a rare disease characterised by skin fragility and a wide variety of symptoms. The Quality of Life in Epidermolysis Bullosa (QOLEB) score is an English 17-item EB-specific validated measurement tool with two dimensions: functioning and emotions. The aim of this cross-sectional study was to develop and validate a culturally adapted German QOLEB. The following steps were carried out: translation, expert evaluation, back translation, linguistic and cultural adaptation, sample-based psychometric testing and evaluation. Data analysis was performed with n = 46 patients across all EB types. The reliability and internal consistency of the translated German QOLEB were excellent (α = 0.901). Regarding convergent validity, the QOLEB correlated highly with the iscorEB (r = 0.879; p < 0.001). Structural similarity with the English original version was confirmed through exploratory factor analysis. In conclusion, the German QOLEB demonstrates internal reliability and construct validity and is suitable to assess the quality of life in German-speaking EB patients.

Psychometric Properties of the Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa patient score (iscorEB-p): a patient-reported outcome measure.

BACKGROUND: In contrast to clinical diagnosis via external examination, patient-related outcome measures (PROMs) allow access to patients' internal perceptions. In the case of epidermolysis bullosa (EB) - a rare disease characterized by a wide variety of symptoms and individual disease courses - it is important to integrate the patient's perspective into diagnostic processes. The Instrument for Scoring Clinical Outcomes of Research for EB (iscorEB) is an EB-specific measurement tool, combining a clinician score (iscorEB-c) and a patient questionnaire (iscorEB-p). OBJECTIVES: The aim of this study is to establish the iscorEB-p as an independent PROM tool by exploring its psychometric properties. METHODS: Sample-based psychometric testing and evaluation were performed on data collected via a multinational online cross-sectional study. RESULTS: Data analysis was performed with n = 95 participants across all EB types. The reliability and internal consistency of the iscorEB-p was excellent (α = 0.90). Principal component analysis with a varimax rotation resulted in a two-factor solution, explaining 55.6% of the total variance, with the distinct factors 'everyday life functioning' and 'specific EB symptoms'. Convergent validity was shown by high correlations to the Satisfaction With Life Scale (r = -0.52, P < 0.001), the Quality of Life in Epidermolysis Bullosa questionnaire (r = 0.72, P < 0.001) and the Epidermolysis Bullosa Family Burden of Disease questionnaire (r = -0.73, P < 0.001). CONCLUSIONS: The iscorEB-p is a reliable and valid instrument to assess patient-reported health status of people with EB.

Epidermolysis bullosa (EB) is a rare chronic condition characterized by fragility of the skin. Even minimal friction leads to the formation of blisters and wounds. People with EB are often called 'butterfly children' because their skin is as fragile as a butterfly's wings. EB affects about 500,000 people worldwide and there is currently no cure. As EB is a chronic disease, it is associated with constantly changing periods of better and worse health. To monitor the impact of EB on patients, it is important to record a range of relevant possible symptoms using a valid questionnaire. The Instrument for Scoring Clinical Outcomes of Research for EB (iscorEB) is such a measurement tool, combining a clinician score (iscorEB-c) and a patient questionnaire (iscorEB-p). However, until now, the patient questionnaire could only be used in addition to the clinician score. In this study, we aimed to emphasize patients' perspectives and strengthen the patient questionnaire so that it can be used independently. The questionnaire can support patients to assess even minimal changes over a period of the last 4 weeks. We collected data from 95 patients with EB from all over the world. Through statistical analysis, we found that the questionnaire is a useful new standalone instrument to obtain a patient-based view of their health status. Overall, our study findings suggest that the iscorEB-p is a reliable and valid tool and could be usefully applied in clinical practice, as an addition to quality-of-service monitoring and in future research studies.