Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses

Inherited ichthyoses comprise a clinically and genetically heterogeneous group of disorders, characterized by generalized skin scaling and hyperkeratosis often associated with erythema [1]. 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 [2‐5]. 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) [1]. 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 [6]. Addition of oral retinoids is frequently required in ARCI [6]. 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 [2‐5, 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 [9].

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 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 [12]. Two of these address rare skin diseases of pediatric interest: epidermolysis bullosa (epidermolysis bullosa burden of disease) [13] and the FBI for ichthyosis [9]. 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 [13‐16].

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 [9]. 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.