The forward translation of the questionnaires was performed independently by an experienced dermatologist (GZ for QOLEB, and MEH for EB-BoD) and a professional translator. The translations were evaluated for reconciliation by the expert committee, which comprised an epidemiologist (DA), 4 dermatologists (AD, CC, GZ, MEH), a psychologist (TS), and language professionals.
Among the 17 items of the QOLEB, complete agreement was observed in five items between translators, aligning with the original English version. However, for the remaining 12 items, minor discrepancies in wording emerged between the translations. In particular, for 10 of these items (nine questions and one answer), there existed comparable meaning between the translations. The expert committee opted to prioritize wording that closely mirrored the original questionnaire while ensuring clarity and comprehensibility in both questions and answers. For questions with quantitative answer options (e.g., not at all, a little, a lot, etc.), the generic English term “How”, has been translated more specifically with “How much” or “To what extent”. Notably, in five of these 12 items, the translators chose a different Italian wording to achieve semantic, idiomatic, or cultural equivalence. The details about the reconciliation for these five items are shown in Table 1.
Table 1
Concerns and comments from expert committee explaining wording modifications in the Italian version of the “Quality of Life in Epidermolysis Bullosa” (QOLEB) and “Epidermolysis Bullosa Burden of Disease” (EB-BoD) questionnaires
QOLEB questionnaire |
Question N. | Concerns | Discussion and final choice |
5 | Last answer option: in Italy, the term “nutrition” is mostly used by healthcare professionals and not by lay people | It was decided to replace “nutrition” with “feed myself”, in order to ensure better understanding of the answer option |
7 | The expression “involvement in sports” is not really used in Italian | It was decided to replace “involvement in sports”, which sounds awkward in Italian, with “sport activities” |
13 | The last answer option of the question states “…restricts my social interaction”. Social interaction is a phrase not commonly used in Italian | It was decided to replace “social interaction” with “social life”, to use a more familiar phrase |
15 | The term “financially” is not usually used to indicate disease costs and economic consequences for families (but for companies, firms, etc.) | It was decided to replace “financially” with “economically”, which more closely reflects the use of this term in everyday life and family settings |
17 | The passive form “how uncomfortable are you made to feel by others…” is not used in Italian | A more direct wording: “How uncomfortable do others make you feel…” was chosen |
EB-BoD questionnaire |
Question N. | Concerns | Discussion and final choice |
13 | The expression “…the odor produced by skin disease….” is not used in Italian | “…the odor produced by skin disease….” Was replaced by “….the odor caused by….” |
15 | The French expression “…faire garder mon enfant…” [“…find child care…” – in the English version], as well as the English one, do not have a direct equivalent in Italian | ”…faire garder mon enfant…” was replaced by “… to find a person who takes care of my child…” |
19 and 20 | The term “Each time” does not fit with the possible answer options [e.g., “never”, “rarely”, etc.] in both questions | It was decided to replace the term “Each time” with “When” |
Following reconciliation, one English mother tongue translator and an expert dermatologist fluent in English (AD) independently back translated the Italian text. There was complete agreement between the two translators on one item, linguistic equivalence for 11 items. Specifically, in the five items mentioned above, the original meaning of questions and/or answers was preserved though using a slightly different wording, which reflected the Italian choices (see Table 1). The authors of the QOLEB approved the initial back translation. The committee then revised the original questionnaire and all translations, and evaluated equivalence between the source and the translated questionnaires. The pre-pilot version was approved by the QOLEB authors.
As to the EB-BoD instrument, there was full agreement in 13 out of 20 items between the translators and with the original French version, and in three additional items, there was meaning correspondence between both versions. The wording of the remaining four items was slightly modified to clarify the questions in relation to the different answer options (items 19 and 20) or to obtain semantic/idiomatic/cultural equivalence of the Italian version with the French one (items 13 and 15) (Table 1). Following reconciliation, one French mother tongue translator and a French mother tongue clinical expert (FF) back translated the Italian text. There was complete agreement between the two translators. The authors of the EB-BoD approved the initial back translation. The committee then followed the same procedure described above for the QOLEB, and the pre-pilot version was approved by the EB-BoD authors.
Questionnaire cognitive debriefing was performed on 17 families with at least one individual affected with EB (Table 2). All EB subtypes were represented: four EBS, three JEB, nine DEB and one KEB. Specifically, the QOLEB was administered to 10 patients aged > 11 years (1 EBS, 3 JEB, 5 DEB, and 1 KEB), and the EB-BoD to 12 parents of 11 children affected with different EB types (4 EBS, 1 JEB, 6 DEB). Interestingly, 10 out of 12 caregivers who filled the questionnaire and cognitive debriefing forms were the mothers of affected individuals, and the remaining two were the fathers. Table 2 also summarizes other information about parents: median age was 39 years (minimum 34, maximum 51), most of them were highly educated, and 11/12 were employed (one retired). All patients and all caregivers completed their respective questionnaires in 15 minutes or less (details in Table 3).
Table 2
Characteristics of the patients and caregivers involved in the pilot testing of the two disease-specific questionnaires, “Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”
Variable | Levels | | Patients | | | Caregivers | |
| | | N | % | | N | % | |
Sex | Male | | 9 | 52.9 | | 2 | 16.7 | |
| Female | | 8 | 47.1 | | 10 | 83.3 | |
Age (years) | 0–10 | | 7 | 41.2 | < 40 | 6 | 50.0 | |
| 11–17 | | 4 | 23.5 | ≥ 40 | 6 | 50.0 | |
| ≥ 18 | | 6 | 35.3 | | | | |
| | | Median | Min-Max | | Median | Min-Max | |
| | | 14 | 1–56 | | 39 | 34–51 | |
Education | Primary | | | | | 0 | 0.0 | |
| High School | | | | 2 | 20.0 | |
| University | | | | 8 | 80.0 | |
| (Missing) | | | | | 2 | | |
Work | Yes | | 1 | 5.9 | | 11 | 94.1 | |
| No (Unemployed) | | 1 | 5.9 | | | | |
| At home | | 3 | 17.7 | | | | |
| Still at school | | 10 | 58.8 | | | | |
| Retired | | 2 | 11.7 | | 1 | 5.9 | |
Diagnosis | EBS | | 4 | 23.5 | | | | |
| JEB | | 3 | 17.7 | | | | |
| DEB | | 9 | 52.9 | | | | |
| KEB | | 1 | 5.9 | | | | |
EBS: epidermolysis bullosa simplex; JEB: junctional epidermolysis bullosa; DEB: dystrophic epidermolysis bullosa; KEB Kindler epidermolysis bullosa |
Table 3
Completion percentages and time for completion for the two study questionnaires, “Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”
Variable | Levels | | Patients | | | Caregivers |
| | | N* | % | | N | % |
Complete | Yes | | 10 | 100.0 | | 12 | 100.0 |
| No | | 0 | 0.0 | | 0 | 0.0 |
| | | Median | Min-Max | | Median | Min-Max |
Time | (minutes) | 10 | 3–15 | | 5 | 2–15 |
| **Missing | | | | | 2 | |
*Seven patients were below age 11, and were not administered the “Quality of Life in Epidermolysis Bullosa” questionnaire. |
**Questionnaires completed, but lacking information about the time needed to respond. |
During the cognitive debriefing, most respondents demonstrated a clear understanding of both questionnaires, except for an issue raised regarding the last answer to question five in the QOLEB questionnaire: "I rely on my gastrostomy tube for nutrition." Specifically, one adult patient, affected by an intermediate form of JEB, did not know the term "gastrostomy," and thus did not understand the answer. Additionally, regarding the QOLEB questionnaire, there was a suggestion to add “when” to questions 8 and 15, thus becoming “How and when…”. The rationale behind this was to account for occasional feelings of frustration and depression, emphasizing the relevance of a temporal aspect in both questions. While intriguing, this suggestion was deemed to significantly alter the original question, falling outside the intended scope of the questionnaire translation and cross-cultural validation. Consequently, it was not integrated into the questionnaire.
Regarding EB-BoD question 9, "My family does not come to see us because of my child’s skin disease," a parent proposed a positive rephrasing: "My family comes to see us despite my child’s skin disease." Similarly, there was a suggestion to positively modify question 15 from “I have great difficulty in finding child care for my child on account of his/her skin disease” to “I easily find child care for my child despite his/her skin disease.” However, both proposed changes couldn't be accepted due to their substantial alteration of the original meaning and text, which would also impact the scoring system.
Overall, the expert committee did not modify the Italian version of the two questionnaires following cognitive debriefing. The validated Italian texts (Tables 4 and 5) were forwarded again to the respective developers for final approval.
Table 5
Italian version of the Epidermolysis Bullosa Burden of Disease questionnaire
| La malattia di Suo/a figlio/a è oggi ben conosciuta. Tuttavia, l’impatto e le conseguenze di questa malattia sulla Sua vita quotidiana sono meno conosciuti. Per ognuna delle seguenti affermazioni, può scegliere tra sette risposte possibili. Non ci sono risposte giuste o sbagliate. Per cortesia, risponda nella maniera più spontanea possibile pensando alla Sua situazione nelle ultime 4 settimane. |
| | Sempre | Molto spesso | Spesso | Qualche volta | Raramente | Mai | Non mi riguarda |
1 | La malattia della pelle di mio/a figlio/a ci ha spinto a volerci trasferire | | | | | | | |
2 | La malattia della pelle di mio/a figlio/a mi ha portato a voler lasciare Il mio lavoro | | | | | | | |
3 | Penso alla malattia della pelle di mio/a figlio/a tutto il giorno | | | | | | | |
4 | Cerco di proteggere mio/a figlio/a a causa della sua malattia della pelle | | | | | | | |
5 | La malattia della pelle di mio/a figlio/a ci impedisce di andare in vacanza | | | | | | | |
6 | Mio/a figlio/a ha bisogno di più attenzione degli altri a causa della sua malattia della pelle | | | | | | | |
7 | La malattia della pelle di mio/a figlio/a ci ha costretti a rimettere in discussione i nostri progetti per il futuro | | | | | | | |
8 | La malattia della pelle di mio/a figlio/a mi impedisce di andare a trovare la mia famiglia | | | | | | | |
9 | La mia famiglia non viene a trovarci a causa della malattia della pelle di mio/a figlio/a | | | | | | | |
10 | La malattia della pelle di mio/a figlio/a ci crea problemi di coppia | | | | | | | |
11 | Le visite mediche per la malattia della pelle di mio/a figlio/a mi causano spesso un senso di frustrazione | | | | | | | |
12 | Le reazioni della gente di fronte alla malattia della pelle di mio/a figlio/a sono difficili da accettare | | | | | | | |
13 | Faccio fatica ad accettare la malattia della pelle di mio/a figlio/a | | | | | | | |
14 | Faccio fatica ad abituarmi all’odore causato dalla malattia della pelle di mio/a figlio/a | | | | | | | |
15 | Ho grandi difficoltà a trovare una persona che si prende cura di mio/a figlio/a a causa della sua malattia della pelle | | | | | | | |
16 | Mio/a figlio/a ha grandi difficoltà a scuola a causa della sua malattia della pelle | | | | | | | |
17 | Ho paura per il futuro di mio/a figlio/a a causa della sua malattia della pelle | | | | | | | |
18 | Le cure necessarie a mio/a figlio/a iniziano a pesarmi | | | | | | | |
19 | Quando devo andare in ospedale, il giorno prima non mi sento bene | | | | | | | |
20 | Quando vado in ospedale, il giorno dopo non mi sento bene | | | | | | | |