Dermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
Clinical Epidemiology Unit, IDI-IRCCS, Rome, Italy.
Ital J Pediatr. 2024 Apr 19;50(1):76. doi: 10.1186/s13052-024-01657-2.
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.
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.
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.
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.
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弱性疾病，其特征是在轻微创伤后形成水疱。根据皮肤内的分裂水平，可区分出四大主要类型。大多数 EB 形式表现出严重的致残性皮肤和全身症状和体征。治疗依赖于每天需要花费大量时间且令人痛苦的局部药物治疗，以及对全身发现的对症治疗。疾病表现、症状和日常护理强烈影响患者和照顾者的生活质量（QoL）。迄今为止，有两种经过验证的专门用于 EB 的问卷，即“大疱性表皮松解症生活质量”（QOLEB）和“大疱性表皮松解症疾病负担”（EB-BoD），分别用于评估患者和家庭的疾病负担。我们研究的目的是开发这两种问卷的意大利语翻译版本，并对其进行初步测试。
我们遵循了健康相关生活质量测量的翻译和跨文化适应指南。最初，为每个问卷分别生成了两个单独的翻译版本，然后由专家委员会进行协调。随后进行了回译过程。原始文本和所有翻译版本都由专家委员会进行了修订，最终形成了确定版本。最终版本随后在包括所有 EB 主要类型的 17 个家庭的小组中进行了认知预测试。
翻译和协调过程导致了一些细微的变化，以获得意大利语版本与原始版本的语义/习语/文化等效性，并协调问题和答案选项。认知预测试过程表明理解良好，不需要修改文本。
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，并且允许他们参与多中心的真实世界观察性研究以及对照临床试验。它们能够确定 EB 患者及其家庭的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，以确保提供适当和及时的护理。
