OBJECTIVES: No specific tool currently exists for assessing the burden placed upon persons suffering from albinism. FIMARAD (Rare Diseases in Dermatology) group began an initiative to create a specific questionnaire.

METHODS: The questionnaire was devised using standardized methodology for developing and validating QoL ‘questionnaires: according to the following chronological structure: 3 phases/ conceptual-development-validation. A multidisciplinary working group was assembled, including PRO’experts, dermatologists and representatives of the Genespoir association. Validated questionnaires SF12), MetraPVC, Body-Image-States-Scale-(BISS) and Daily-Life -Quality-Index(DLQI)) were also administered in order to ensure external validity.

RESULTS: Based on an initial verbatim report, the workgroup compiled a list of items, which were transcribed and reformulated into questions. In this phase, 65 items were defined, reorganized and regrouped according to content, then reduced to 24.This questionnaire was proposed to 87 subjects with albinism during the development phase. 63 responded. During the validation phase, Principal Component Analysis (PCA) was conducted on the 24 items, which allowed the questionnaire to be reduced to 20 questions [Q]. The standardized regression coefficients were all greater than 0.5 on their corresponding factors. Based on their normalized regression coefficients, each group of questions was linked to one of the following four dimensions: "living with the disease"(8Q), "daily life"(3Q), "resignation"(3Q), and "fear of the future"(6Q). To verify external validity, the correlation coefficients of the questionnaire were also calculated with the following validated questionnaires: SF12, Metra-PVC, BISS, and DLQI. Strong correlation was found and so external validity was confirmed

CONCLUSIONS: This questionnaire represents the first specific assessment tool for evaluating the burden of albinism. It is easy to use and relatively quick to complete, which will allow the burden over time to be evaluated with a reproducible questionnaire. To ensure that this questionnaire can be used by as many people as possible, cultural and linguistic validation in US English was conducted with the original French version.