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 s...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-09-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-018-0894-3 |
| _version_ | 1811299798111748096 |
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| author | Fanny Morice-Picard Charles Taïeb Aurelie Marti Antoine Gliksohn Mohammed Bennani Christine Bodemer Khaled Ezzedine Filière Maladies Rares en Dermatologie: FIMARAD |
| author_facet | Fanny Morice-Picard Charles Taïeb Aurelie Marti Antoine Gliksohn Mohammed Bennani Christine Bodemer Khaled Ezzedine Filière Maladies Rares en Dermatologie: FIMARAD |
| author_sort | Fanny Morice-Picard |
| collection | DOAJ |
| description | 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 patients with albinism, and representatives of the Genespoir association. Results Based 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. Conclusion 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 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. |
| first_indexed | 2024-04-13T06:42:14Z |
| format | Article |
| id | doaj.art-7f3b698a8c6b4d489b9eab1375567f04 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T06:42:14Z |
| publishDate | 2018-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-7f3b698a8c6b4d489b9eab1375567f042022-12-22T02:57:42ZengBMCOrphanet Journal of Rare Diseases1750-11722018-09-011311810.1186/s13023-018-0894-3Burden of albinism: development and validation of a burden assessment toolFanny Morice-Picard0Charles Taïeb1Aurelie Marti2Antoine Gliksohn3Mohammed Bennani4Christine Bodemer5Khaled Ezzedine6Filière Maladies Rares en Dermatologie: FIMARADCHU BordeauxFIMARAD, Hôpital Necker-Enfants Malades, APHPCHU BordeauxGenespoirQualeesMAGEC, CHU Necker-Enfants Malades, APHPEA EpiDermE, UPE-Université Paris-EstAbstract 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 patients with albinism, and representatives of the Genespoir association. Results Based 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. Conclusion 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 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.http://link.springer.com/article/10.1186/s13023-018-0894-3BurdenAlbinismReal lifeQuality of life |
| spellingShingle | Fanny Morice-Picard Charles Taïeb Aurelie Marti Antoine Gliksohn Mohammed Bennani Christine Bodemer Khaled Ezzedine Filière Maladies Rares en Dermatologie: FIMARAD Burden of albinism: development and validation of a burden assessment tool Orphanet Journal of Rare Diseases Burden Albinism Real life Quality of life |
| title | Burden of albinism: development and validation of a burden assessment tool |
| title_full | Burden of albinism: development and validation of a burden assessment tool |
| title_fullStr | Burden of albinism: development and validation of a burden assessment tool |
| title_full_unstemmed | Burden of albinism: development and validation of a burden assessment tool |
| title_short | Burden of albinism: development and validation of a burden assessment tool |
| title_sort | burden of albinism development and validation of a burden assessment tool |
| topic | Burden Albinism Real life Quality of life |
| url | http://link.springer.com/article/10.1186/s13023-018-0894-3 |
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