ArticleOrphanet journal of rare diseases2018
Burden of albinism: development and validation of a burden assessment tool.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 3 of them syntheses that pooled it.
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10 citing papers in PubMed, 3 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- The Dermatology Life Quality Index (DLQI) used as the benchmark in validation of 101 quality-of-life instruments: A systematic review.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Pooled it
- A Systematic Review of 207 Studies Describing Validation Aspects of the Dermatology Life Quality Index.Acta dermato-venereologica · 2024Pooled it
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.BMC medicine · 2024Article
- The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.Acta dermato-venereologica · 2023Article
- RaDiCo, the French national research program on rare disease cohorts.Orphanet journal of rare diseases · 2021Article
- A Method for Designing a Patient Burden Questionnaire in Dermatology.Clinical, cosmetic and investigational dermatology · 2020Article
- Individual Burden of Psoriasis (I-BOP): Building and Validation of a New Scoring Tool for Patients with Psoriasis.Clinical, cosmetic and investigational dermatology · 2020Article
- Incontinentia pigmenti burden scale: designing a family burden questionnaire.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlbinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the burden experienced by individuals who present with albinism, although such a tool is needed and would be beneficial for clinicians and patients alike.
methodThe questionnaire was devised using standardized methodology for developing and validating questionnaires on the quality of life of subjects according to the following chronological structure: conceptual phase, development phase, and then validation phase. A multidisciplinary working group was assembled, including experts on questionnaire design and development, dermatologists specializing in care for patients with albinism, and representatives of the Genespoir association.
resultsBased on an initial verbatim report, the workgroup compiled a list of items that were transcribed and reformulated into questions. 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 for their corresponding factors. Based on their normalized regression coefficients, each group of questions was linked to one of the following four dimensions, with each dimension consisting of at least three questions: "Live with" (8 Q), "Daily life" (3 Q), "Resignation" (3 Q), and "Fear of the future" (6 Q). All dimensions correlated well with the overall BoA score. Cronbach's α was 0.92 for the entire BoA scale, confirming excellent internal coherence. Intradimensional coherences all demonstrated excellent reliability (α > 0.65). The BoA questionnaire was highly correlated with the SF12, RSES and DLQI validated questionnaires. This outcome confirmed the external validity.
conclusionThis 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 to be evaluated over time 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.
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