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Abstract：
BACKGROUND: Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma. Four major types are distinguished based on the level of cleavage within the skin. Most EB forms present severely disabling cutaneous and systemic signs and symptoms. Management relies on daily time-consuming and distressing topical medications, and symptomatic treatment of systemic findings. Disease manifestations, symptoms, and daily care strongly affect patient and caregiver quality of life (QoL). To date, there are two validated EB-specific questionnaires, the \"Quality of Life in Epidermolysis Bullosa\" (QOLEB) and the \"Epidermolysis Bullosa Burden of Disease\" (EB-BoD) for the evaluation of patient and family disease burden, respectively. The aim of our study was to develop an Italian translation of the two questionnaires and to pilot-test them.
METHODS: The guidelines for translation and cross-cultural adaptation of health-related QoL measures were followed. Initially, two separate translations were generated for each questionnaire, and subsequently reconciled by an expert committee. This was followed by a back-translation process. The original texts and all translations underwent revision by the expert committee, resulting in definitive versions. The final versions were then tested in a pilot study involving cognitive debriefing in a group of 17 families, representative of all EB major types.
RESULTS: The translation and reconciliation process led to minor changes to obtain semantic/idiomatic/cultural equivalence of the Italian versions with the original ones and to reconcile the questions with the answer options. The cognitive debriefing process showed a good understanding and did not require text modifications.
CONCLUSIONS: The Italian versions of the QOLEB and EB-BoD provide valuable tools in everyday clinical practice of reference centers, and they allow the participation in multicenter international real-life observational studies as well as in controlled clinical trials. They enable the identification of disease-specific psychological and socioeconomic challenges for EB patients and their families, guiding targeted interventions to ensure appropriate and timely care.
METHODS: The guidelines for translation and cross-cultural adaptation of health-related QoL measures were followed. Initially, two separate translations were generated for each questionnaire, and subsequently reconciled by an expert committee. This was followed by a back-translation process. The original texts and all translations underwent revision by the expert committee, resulting in definitive versions. The final versions were then tested in a pilot study involving cognitive debriefing in a group of 17 families, representative of all EB major types.
RESULTS: The translation and reconciliation process led to minor changes to obtain semantic/idiomatic/cultural equivalence of the Italian versions with the original ones and to reconcile the questions with the answer options. The cognitive debriefing process showed a good understanding and did not require text modifications.
CONCLUSIONS: The Italian versions of the QOLEB and EB-BoD provide valuable tools in everyday clinical practice of reference centers, and they allow the participation in multicenter international real-life observational studies as well as in controlled clinical trials. They enable the identification of disease-specific psychological and socioeconomic challenges for EB patients and their families, guiding targeted interventions to ensure appropriate and timely care.
摘要：
背景：遗传性大疱性表皮松解症（EB）是一组临床和遗传异质性的皮肤脆性疾病，其特征是轻微创伤后的水疱形成。基于皮肤内的分裂水平来区分四种主要类型。大多数EB形式表现出严重致残的皮肤和全身体征和症状。管理依赖于每天耗时且令人痛苦的局部用药，和系统发现的对症治疗。疾病表现,症状,和日常护理强烈影响患者和护理人员的生活质量（QoL）。迄今为止,有两个经过验证的针对EB的问卷，“大疱性表皮松解症的生活质量”（QOLEB）和“大疱性表皮松解症疾病负担”（EB-BoD）用于评估患者和家庭疾病负担，分别。我们研究的目的是开发两个问卷的意大利语翻译并对其进行试点测试。
方法：遵循与健康相关的QoL测量的翻译和跨文化适应指南。最初，为每个问卷生成两个单独的翻译，随后由专家委员会和解。随后是反向翻译过程。原文和所有译文都经过专家委员会的修订,导致最终版本。然后在一项涉及17个家庭的认知汇报的试点研究中测试了最终版本，所有EB主要类型的代表。
结果：翻译和协调过程导致了微小的变化，以获得意大利语版本与原始版本的语义/惯用/文化对等，并使问题与答案选项相协调。认知汇报过程显示出很好的理解，不需要文本修改。
结论：QOLEB和EB-BoD的意大利语版本为参考中心的日常临床实践提供了有价值的工具，它们允许参与多中心国际现实生活观察研究以及对照临床试验。它们能够为EB患者及其家人识别特定疾病的心理和社会经济挑战，指导有针对性的干预措施，以确保适当和及时的护理。
方法：遵循与健康相关的QoL测量的翻译和跨文化适应指南。最初，为每个问卷生成两个单独的翻译，随后由专家委员会和解。随后是反向翻译过程。原文和所有译文都经过专家委员会的修订,导致最终版本。然后在一项涉及17个家庭的认知汇报的试点研究中测试了最终版本，所有EB主要类型的代表。
结果：翻译和协调过程导致了微小的变化，以获得意大利语版本与原始版本的语义/惯用/文化对等，并使问题与答案选项相协调。认知汇报过程显示出很好的理解，不需要文本修改。
结论：QOLEB和EB-BoD的意大利语版本为参考中心的日常临床实践提供了有价值的工具，它们允许参与多中心国际现实生活观察研究以及对照临床试验。它们能够为EB患者及其家人识别特定疾病的心理和社会经济挑战，指导有针对性的干预措施，以确保适当和及时的护理。
