Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
Italian Journal of Pediatrics volume 45, Article number: 26 (2019)
Inherited ichthyoses are rare disorders characterized by generalized skin scaling. Among them, autosomal recessive congenital ichthyoses (ARCI) form a major subgroup presenting lifelong and severely disabling cutaneous and extracutaneous features and symptoms for which no curative treatment is available. Management relies on daily time-consuming and distressing topical medications. Disease manifestations, symptoms, and daily care affect not only the patient self-perception, but also different dimensions of patient and family life. To date, there is only a French validated ichthyosis-specific questionnaire, “Family Burden in Ichthyosis” (FBI), for the evaluation of family disease burden. It addresses economical aspects, daily life, familial and personal relationships, work, and psychological impact. The aim of our study was to develop an Italian translation of the French FBI questionnaire and to pilot-test it in ARCI patients.
The guidelines for cross-cultural adaptation of health-related quality of life measures were followed. Specifically, two independent forward translations were produced, followed by a reconciliation step by a multidisciplinary expert committee and back-translation. Revision of the original text and all translations was performed by the expert committee leading to a final version, which was pilot-tested by cognitive debriefing on 10 caregivers whose comments were evaluated by the committee.
The translation and reconciliation process led to minor changes in five items in order to clarify the questions in relation to the possible answers or to obtain semantic/idiomatic/cultural equivalence of the Italian version with the French one. The cognitive debriefing process resulted into further minor wording modifications in four items to describe more precisely the disease impact according to parents’ comments. The FBI developer approved the final Italian FBI version.
The Italian version of the FBI generated in the present study is a useful instrument to measure the impact of ichthyosis on family daily life, education and working activities, psychological implications, and the disease economic load. The questionnaire will be further validated through a multicenter Italian study on burden of ARCI.
A validated Italian questionnaire is a valuable tool for future clinical trials. In addition, it can be used to rapidly identify family distressing situations, which require attention and prompt intervention.
Inherited ichthyoses comprise a clinically and genetically heterogeneous group of disorders, characterized by generalized skin scaling and hyperkeratosis often associated with erythema . With the exception of ichthyosis vulgaris, all ichthyosis forms are rare diseases with onset in most cases at birth. Whole body skin scaling and, in a number of patients, erythema (Fig. 1a, b) completely alter the patient’s physical appearance and affect his/her self-perception. Additional disease features include ectropion (lid eversion) (Fig. 1c), hearing impairment due to ear canal scaling, foul-smelling skin, limited function due to joint contractures and palmoplantar keratoderma (Fig. 1d), alopecia, hypohidrosis with thermodysregulation, frequent infections, severe pruritus, and skin pain. All these strongly affect quality of life (QoL) of the patients and their families [2,3,4,5]. Autosomal recessive congenital ichthyoses (ARCI) represent a major subgroup of ichthyoses, with onset at birth: the newborn is either entirely wrapped by a parchment-like membrane, the so-called collodion membrane or, less commonly, shows generalized erythroderma with scaling (ichthyosiform erythroderma) (Fig. 2) . Both presentations usually require hospitalization in a Neonatal Intensive Care Unit due to highly defective skin barrier function [6, 7]. When the collodion membrane detaches, the baby gradually develops the above-mentioned disabling clinical features. As no curative treatment is available, patient care relies on daily bathing, followed by whole-body application of topical emollients, keratolytics, and retinoids . Addition of oral retinoids is frequently required in ARCI . Patient care is thus highly time-consuming and distressing for both patients and caregivers [2, 3]. The impact of disease manifestations and patient care on QoL has been at first evaluated by specialty-specific questionnaires, in particular the Dermatology Life Quality Index [2,3,4,5, 8]. Only recently, two disease-specific instruments have been developed in France to globally evaluate family disease burden including psychological, social, and economic aspects, and consequences of physical features [9, 10]. However, only one questionnaire, named “Family Burden in Ichthyosis (FBI)”, has been validated in patients affected with ARCI .
The aim of our study was to develop an Italian translation of the French original version of the FBI questionnaire and to pilot test it.
The FBI is a self-administered questionnaire, which comprises 25 items addressing five domains: economical aspects, daily life, familial and personal relationships, work, and psychological impact . Answers are given on a 4-point Likert scale: definitely yes, sometimes, definitely not, I do not know. Higher scores indicate a greater family burden of ichthyosis. The FBI has been shown to correlate with the mental scale of short form-12 (SF-12), and its five dimensions with the disease severity score.
The Ethical Committee of the Bambino Gesù Children’s Hospital (OPBG) approved the study of the Italian translation, cultural adaptation, and pilot testing of the FBI questionnaire as a part of a cognitive multicenter study on disease burden in ARCI ichthyoses. The guidelines for cross-cultural adaptation of health-related QoL measures were followed . Specifically, a forward translation was produced independently by two native Italian speakers and then underwent a reconciliation step by an expert committee, according to the following criteria: the translation should reflect the original French text, and Italian culture must be taken into account in choosing the words and constructing the sentences. The draft Italian text was then back-translated by two French mother tongue speakers and sent to the Authors for checking. Then, the expert committee further revised the original text and all translations, evaluating equivalence between the source and the translated questionnaires in the areas of semantic, idiomatic, experiential and conceptual equivalence. The pre-pilot testing version was submitted to the developers of the FBI for approval together with an interim report.
Following approval by the FBI developers, pilot testing of the Italian translated version of the FBI was performed by cognitive debriefing on 10 caregivers who gave written informed consent. The participants were recruited from families, with at least one child affected with ARCI, attending the Reference Centre for Rare Skin Diseases of OPBG. A dermatologist contacted the parents, explained the aims of the project, and enrolled the parents who gave their consent. The parents completed the questionnaire on their own, after being instructed to mark questions they found unclear or difficult to understand or to answer. After the questionnaire was completed the participants were interviewed by the dermatologist, who enquired about the reasons why some questions were problematic, and also asked how they would have rephrased in their own words the questions that they identified as difficult or unclear. The interviewer kept notes of the family comments on a standardized form.
The expert committee reviewed the results of all interviews, prepared a summary of participants’ comments and made decisions on all questions identified as problematic. The final version of the questionnaire was submitted to the Authors of the French FBI for final approval.
The forward translation was performed in parallel by an experienced dermatologist (GZ) and a professional translator. The translations were evaluated for reconciliation by the expert committee, which comprised epidemiologists (FG, DA), dermatologists (AD, GZ, MEH, RR), and language professionals. In 20 items, there was full agreement between translators and correspondence with the original French version.
The wording of the remaining five items was slightly modified in order to make clearer the questions in relation to the different answer options (3 items) or to obtain semantic/idiomatic/cultural equivalence of the Italian version with the French one (2 items) (Table 1).
Following reconciliation, one French mother tongue translator and a French mother tongue dermatologist (MEH) back translated the Italian text. There was complete agreement between the two translators. The Authors of the FBI 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 FBI Authors.
Cognitive debriefing performed on 10 parents of five children affected with ARCI did not reveal any particular problem in the comprehension of the 25 questionnaire items. However, the committee slightly modified single words in four items to more appropriately describe disease impact according to parents’ comments (Table 2). The validated Italian text was forwarded again to the developer for final approval (Table 3).
In the field of skin diseases, only eight validated questionnaires for the measure of the family burden of specific diseases exist . Two of these address rare skin diseases of pediatric interest: epidermolysis bullosa (epidermolysis bullosa burden of disease)  and the FBI for ichthyosis . Since only one specialty-specific questionnaire has been validated in Italian, i.e., the Family Dermatology Life Quality Index (FDLQI) [14, 15], and we are planning a multicenter study on ichthyosis burden in our country, we decided to translate and validate the disease-specific FBI. This study will be carried out within the framework of the European Reference Network (ERN) for rare and undiagnosed skin diseases, to which most of the participating centers belong.
Indeed, rare and chronic diseases pose a major burden on patient and family QoL. Therefore, questionnaires designed to measure the impact of diseases such as ichthyosis on family daily life, education and working activities, the disease economic load, and its psychological and social effects are valuable instruments [13,14,15,16].
The generation of the Italian version of the FBI did not pose major cultural adaptation issues also due to the cultural similarities between Italy and France. In addition, both National Health Systems have designated a network of reference centers for rare disorders and cover, in part, the costs for topical and systemic drugs, and other products and devices necessary for patient care.
The main limit of our study has been the cognitive debriefing performed on a small sample of ten caregivers in a single center. However, the validation process has strictly followed the guidelines for cross-cultural adaptation of health-related QoL measures, and an excellent agreement between both the researchers/translators and the caregivers was registered. Nevertheless, the Italian FBI will undergo further validation, including the verification of its psychometric properties, during the planned multicenter Italian study on ichthyosis burden.
The French FBI has been validated by 42 families showing a strong correlation of all questionnaire dimensions, in particular “daily life”, “economic” and “familial/personal relationships”, with disease severity . Our planned multicenter Italian study on ichthyosis burden will allow to evaluate if these findings are also valid for the Italian population.
The availability of a validated Italian questionnaire can represent meaningful outcome measure in future clinical studies, including controlled trials. Finally, this instrument can be used in the routine clinical practice of reference centers to rapidly and more precisely identify specific psychological critical situations in the families of children with ARCI, which require great attention and prompt intervention and treatment.
11 March 2020
The original article contains a misspelling of co-author, Christine Bodemer’s name which is presented correctly in this Correction article.
Autosomal recessive congenital ichthyosis
Family burden in inherited ichthyosis
Bambino Gesù Children’s Hospital
Quality of life
Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009. J Am Acad Dermatol. 2010;63:607–41.
Gånemo A, Sjöden PO, Johansson E, Vahlquist A, Lindberg M. Health-related quality of life among patients with ichthyosis. Eur J Dermatol. 2004;14:61–6.
Kamalpour L, Gammon B, Chen KH, Veledar E, Pavlis M, Rice ZP, Chen SC. Resource utilization and quality of life associated with congenital ichthyoses. Pediatr Dermatol. 2011;28:512–8.
Mazereeuw-Hautier J, Dreyfus I, Barbarot S, Serrentino L, Bourdon-Lanoy E, Ezzedine K, et al. Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups. Br J Dermatol. 2012;166:646–8.
Dreyfus I, Bourrat E, Maruani A, Bessis D, Chiavérini C, Vabres P, et al. Factors associated with impaired quality of life in adult patients suffering from ichthyosis. Acta Derm Venereol. 2014;94:344–6.
Mazereeuw-Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, et al. Management of congenital ichthyoses: European guidelines of care, part one. Br J Dermatol. 2018. https://doi.org/10.1111/bjd.17203.
Mazereeuw-Hautier J, Hernandez-Martin A, O'Toole EA, Bygum A, Amaro C, Aldwin M, et al. Management of congenital ichthyoses: European guidelines of care: part two. Br J Dermatol 2018; https://doi.org/10.1111/bjd.16882.
Bodemer C, Bourrat E, Mazereeuw-Hautier J, Boralevi F, Barbarot S, Bessis D, et al. Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis. Br J Dermatol. 2011;165:1087–94.
Dreyfus I, Pauwels C, Bourrat E, Bursztejn AC, Maruani A, Chiaverini C, et al. Burden of inherited ichthyosis: a French national survey. Acta Derm Venereol. 2015;95:326–8.
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C. Family burden in inherited ichthyosis: creation of a specific questionnaire. Orphanet J Rare Dis. 2013;8:28.
Dreyfus I, Taïeb C, Barbarot S, Maza A, Galera I, Bourrat E, Mazereeuw-Hautier J, et al. IQoL-32: a new ichthyosis-specific measure of quality of life. J Am Acad Dermatol. 2013;69:82–7.
Beaton DE, Bombardier C, Guillemin F, Ferraz MB. Guidelines for the process of cross-cultural adaptation of self-report measures. Spine (Phila Pa 1976). 2000;25:3186–91.
Sampogna F, Finlay AY, Salek SS, Chernyshov P, Dalgard FJ, Evers AWM. Et al; European academy of dermatology and venereology TaskForce on quality of life. Measuring the impact of dermatological conditions on family and caregivers: a review of dermatology-specific instruments. J Eur Acad Dermatol Venereol. 2017;31:1429–39.
Dufresne H, Hadj-Rabia S, Taieb C, Bodemer C. Development and validation of an epidermolysis bullosa family/parental burden score. Br J Dermatol. 2015;173:1405–10.
Tabolli S, Pagliarello C, Uras C, Di Pietro C, Zambruno G, Castiglia D, et al. Family burden in epidermolysis bullosa is high independent of disease type/subtype. Acta Derm Venereol. 2010;90:607–11.
Sampogna F, Tabolli S, Di Pietro C, Castiglia D, Zambruno G, Abeni D. The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the family dermatology life quality index. J Eur Acad Dermatol Venereol. 2013;27:1151–5.
The authors acknowledge the caregivers who actively participated to the pilot testing of the Italian FBI.
No specific funding was available for collection, analysis, and interpretation of data and in writing this manuscript.
Availability of data and materials
FBI translations, back translations, and filled questionnaires with comments obtained during pilot testing are available from MEH, on request.
Ethics approval and consent to participate
The Ethical Committee of the Bambino Gesù Children’s Hospital (OPBG) approved the study of the Italian translation, cultural adaptation, and pilot testing of the FBI questionnaire as a part of a cognitive multicenter study on disease burden in ARCI ichthyoses.
Consent for publication
We obtained a consent to participate from any patient.
The authors declare that they have no competing interests.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
El Hachem, M., Abeni, D., Diociaiuti, A. et al. Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses. Ital J Pediatr 45, 26 (2019). https://doi.org/10.1186/s13052-019-0618-x