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.
Highlights
Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype
Principal component analysis (PCA) was conducted on the 24 items, which allowed the questionnaire to be reduced to 20 questions [Q]
The Burden of Albinism (BoA) questionnaire was highly correlated with the Short Form 12 (SF12), Rosenberg Self-Esteem Scale (RSES) and Dermatology Life Quality Index (DLQI) validated questionnaires
Summary
Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. Less common syndromic forms of albinism, such as Hermansky-Pudlak Syndrome (HPS) and Chediak–Higashi Syndrome (CHS), are characterized by more severe phenotypes, such as interstitial lung fibrosis, granulomatous colitis, bleeding problems and Morice-Picard et al Orphanet Journal of Rare Diseases (2018) 13:162 an increased susceptibility to bacterial infections beyond hypopigmentation and visual defects [12]. A degree of color vision impairment is found in different albinism types [16, 17]. Due to this visual deficiency, the autonomy of patients is often limited, impacting social and professional quality of life (QoL) [18]. Most notable impairment was recorded for distance acuity, vision-specific mental health, and vision-specific role difficulties [18]
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