Burden of albinism: development and validation of a burden assessment tool.

ABSTRACT:

Background

Albinism 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.

Method

The 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 pa

SUBMITTER: Morice-Picard F 

PROVIDER: S-EPMC6145119 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature