{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:37:37Z","timestamp":1790761057771,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The concept of individual burden, associated with disease, has been introduced recently to determine the \u201cdisability\u201d caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cornification. Skin symptoms have a major impact on patients\u2019 Quality of Life but little is known about the burden of the disease on the families of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To develop and validate a specific burden questionnaire for the families of patients affected by ichthyosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two steps were required. First, the creation of the questionnaire which followed a strict methodological process involving a multidisciplinary team and families. Secondarily, the validation of the questionnaire, including the assessment of its reliability, external validity, reproducibility and sensitivity, was carried out on a population of patients affected by autosomal recessive congenital ichthyosis. A population of parents of patients affected by ichthyosis was enrolled to answer the new questionnaire in association with the Short Form Q12 questionnaire (SF-12) and a clinical severity score was filled for each patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ninety four families were interviewed to construct the verbatim in order to create the questionnaire and a cognitive debriefing was realized. The concept of burden could be structured around five components: \u201ceconomic\u201d, \u201cdaily life\u201d, \u201cfamilial and personal relationship\u201d, \u201cwork\u201d, and \u201cpsychological impact\u201d. As a result, \u201cFamily Burden Ichthyosis\u201d (FBI) reproducible questionnaire of 25 items was created.<\/jats:p><jats:p>Forty two questionnaires were analyzable for psychometric validation. Reliability (Cronbach\u2019s alpha coefficient\u2009=\u20090.89), reflected the good homogeneity of the questionnaire. The correlation between mental dimensions of the SF-12 and the FBI questionnaire was statistically significant which confirmed the external validity. The mean FBI score was 71.7\u2009\u00b1\u200918.8 and a significant difference in the FBI score was shown between two groups of severity underlining a good sensitivity of the questionnaire.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The internal and external validity of the \u201cFBI\u201d questionnaire was confirmed and it is correlated to the severity of ichtyosis. Ichthyoses, and other chronic pathologies, are difficult to assess by clinical or Quality of Life aspects alone as their impact can be multidimensional. \u201cFBI\u201d takes them all into consideration in order to explain every angle of the handicap generated.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1750-1172-8-28","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T15:14:18Z","timestamp":1360941258000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Family burden in inherited ichthyosis: creation of a specific questionnaire"],"prefix":"10.1186","volume":"8","author":[{"given":"H\u00e9l\u00e8ne","family":"Dufresne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"M\u00e9ni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Sibaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Ta\u00efeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,2,15]]},"reference":[{"key":"533_CR1","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","volume":"63","author":"V Oji","year":"2010","unstructured":"Oji V, Tadini G, Akiyama M: Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sor\u00e8ze 2009. J Am Acad Dermatol. 2010, 63: 607-641. 10.1016\/j.jaad.2009.11.020.","journal-title":"J Am Acad Dermatol"},{"key":"533_CR2","doi-asserted-by":"publisher","first-page":"81","DOI":"10.2165\/00128071-200304020-00002","volume":"4","author":"JJ Di Giovanna","year":"2003","unstructured":"Di Giovanna JJ, Robinson-Bostom L: Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003, 4: 81-95. 10.2165\/00128071-200304020-00002.","journal-title":"Am J Clin Dermatol"},{"key":"533_CR3","first-page":"61","volume":"14","author":"A G\u00e5nemo","year":"2004","unstructured":"G\u00e5nemo A, Sj\u00f6den PO, Johansson E: Health-related quality of life among patients with ichthyosis. Eur J Dermatol. 2004, 14: 61-66.","journal-title":"Eur J Dermatol"},{"key":"533_CR4","doi-asserted-by":"publisher","first-page":"351","DOI":"10.2165\/11311070-000000000-00000","volume":"10","author":"V Oji","year":"2009","unstructured":"Oji V, Traupe H: Ichthyosis, clinical manifestations and practical treatment options. Am J Clin Dermatol. 2009, 10: 351-364. 10.2165\/11311070-000000000-00000.","journal-title":"Am J Clin Dermatol"},{"key":"533_CR5","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1111\/j.1365-2133.2011.10510.x","volume":"165","author":"C Bodemer","year":"2011","unstructured":"Bodemer C, Bourrat E, Mazereeuw-Hautier J: Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis. Br J Dermatol. 2011, 165: 1087-1094. 10.1111\/j.1365-2133.2011.10510.x.","journal-title":"Br J Dermatol"},{"key":"533_CR6","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1046\/j.1365-2133.1999.03200.x","volume":"141","author":"A G\u00e5nemo","year":"1999","unstructured":"G\u00e5nemo A, Virtanen M, Vahlquist A: Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulation. Br J Dermatol. 1999, 141: 1027-1032. 10.1046\/j.1365-2133.1999.03200.x.","journal-title":"Br J Dermatol"},{"key":"533_CR7","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1111\/j.1365-2133.2006.07745.x","volume":"156","author":"CJ Verfaille","year":"2007","unstructured":"Verfaille CJ, Vanhoutte FP, Blanchet-Bardon C: Oral liazorazole vs. Acitretin in the treatment of ichthyosis: a phase II\/III multicentre, double-blind, randomized, active-controlled study. Br J Dermatol. 2007, 156: 965-973. 10.1111\/j.1365-2133.2006.07745.x.","journal-title":"Br J Dermatol"},{"key":"533_CR8","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1111\/j.1365-2133.1994.tb02902.x","volume":"130","author":"PM Steijlen","year":"1994","unstructured":"Steijlen PM, Van Dooren-Greebe RJ, Van de Kerkhof PC: Acitretin in the treatment of lamellar ichthyosis. Br J Dermatol. 1994, 130: 211-214. 10.1111\/j.1365-2133.1994.tb02902.x.","journal-title":"Br J Dermatol"},{"key":"533_CR9","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1111\/j.1365-2133.1996.tb07936.x","volume":"134","author":"M Lacour","year":"1996","unstructured":"Lacour M, Mehta-Nikhar B, Atherton DJ: An appraisal of acitretin therapy in children with inherited disorders of keratinisation. Br J Dermatol. 1996, 134: 1023-1029. 10.1111\/j.1365-2133.1996.tb07936.x.","journal-title":"Br J Dermatol"},{"key":"533_CR10","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1111\/j.1525-1470.2011.01432.x","volume":"28","author":"L Kamalpour","year":"2011","unstructured":"Kamalpour L, Gammon B, Chen KH: Resource utilization and quality of life associated with congenital ichthyoses. Pediatr Dermatol. 2011, 28: 512-518. 10.1111\/j.1525-1470.2011.01432.x.","journal-title":"Pediatr Dermatol"},{"key":"533_CR11","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1046\/j.0309-2402.2003.02820.x","volume":"44","author":"A G\u00e5nemo","year":"2003","unstructured":"G\u00e5nemo A, Lindholm C, Lindberg M: Quality of life in adults with congenital ichthyosis. J Adv Nurs. 2003, 44: 412-419. 10.1046\/j.0309-2402.2003.02820.x.","journal-title":"J Adv Nurs"},{"key":"533_CR12","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1111\/j.1365-2133.2011.10701.x","volume":"166","author":"J Mazereeuw-Hautier","year":"2012","unstructured":"Mazereeuw-Hautier J, Dreyfus I, Barbarot S: Factors influencing quality of life of inherited ichthyosis: a qualitative study in adult using focus group. Br J Dermatol. 2012, 166: 646-648. 10.1111\/j.1365-2133.2011.10701.x.","journal-title":"Br J Dermatol"},{"key":"533_CR13","volume-title":"About the Global Burden of Disease (GBD) project [WWW document]","author":"World Health Organization","year":"2010","unstructured":"World Health Organization: About the Global Burden of Disease (GBD) project [WWW document]. 2010, URL [http:\/\/www.who.int\/healthinfo\/global_burden_disease\/about\/en\/]"},{"key":"533_CR14","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1258\/phleb.2010.010039","volume":"25","author":"JJ Guex","year":"2010","unstructured":"Guex JJ, Rahhali N, Ta\u00efeb C: The patient\u2019s burden of chronic venous disorders: construction of a questionnaire. Phlebology. 2010, 25: 280-285. 10.1258\/phleb.2010.010039.","journal-title":"Phlebology"},{"key":"533_CR15","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1111\/j.1468-3083.2010.03600.x","volume":"24","author":"N Meyer","year":"2010","unstructured":"Meyer N, Paul C, Feneron D: Psoriasis: an epidemiological evaluation of disease burden in 590 patients. J Eur Acad Dermatol Venereol. 2010, 24: 1075-1082.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"Suppl 63","key":"533_CR16","first-page":"S87","volume":"28","author":"E Serra","year":"2010","unstructured":"Serra E, Spaeth M, Carbonell J: Development of the fibromyalgia burden assessment: measuring the burden of fibromyalgia multifaceted. Clin Exp Rheumatol. 2010, 28 (Suppl 63): S87-S93.","journal-title":"Clin Exp Rheumatol"},{"key":"533_CR17","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1080\/01688639408402620","volume":"16","author":"M Seidenberg","year":"1994","unstructured":"Seidenberg M, Haltiner A, Taylor MA: Development and validation of a multiple ability self-report questionnaire. J Clin Exp Neuropsychol. 1994, 16: 93-103. 10.1080\/01688639408402620.","journal-title":"J Clin Exp Neuropsychol"},{"key":"533_CR18","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1111\/j.1365-2133.2004.05783.x","volume":"150","author":"D Whalley","year":"2004","unstructured":"Whalley D, McKenna SP, Dewar AL: A new instrument for assessing quality of life in atopic dermatitis: international development of the Quality of Life Index for Atopic Dermatitis (QoLIAD). Br J Dermatol. 2004, 150: 274-283. 10.1111\/j.1365-2133.2004.05783.x.","journal-title":"Br J Dermatol"},{"key":"533_CR19","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1001\/archdermatol.2010.161","volume":"146","author":"AC Smidt","year":"2010","unstructured":"Smidt AC, Lai JS, Cella D: Development and validation of Skindex-Teen, a quality-of-life instrument for adolescents with skin disease. Arch Dermatol. 2010, 146: 865-869. 10.1001\/archdermatol.2010.161.","journal-title":"Arch Dermatol"},{"key":"533_CR20","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1111\/j.1524-4733.2005.04054.x","volume":"8","author":"D Wild","year":"2005","unstructured":"Wild D, Grove A, Martin M: ISPOR Task Force for Translation and Cultural Adaptation. Principles of Good Practice for the Translation and Cultural Adaptation Process for Patient-Reported Outcomes (PRO) Measures: Report of the ISPOR Task Force for Translation and Cultural Adaptation. Value Health. 2005, 8: 94-104. 10.1111\/j.1524-4733.2005.04054.x.","journal-title":"Value Health"},{"key":"533_CR21","first-page":"68","volume-title":"Comprendre et utiliser les statistiques dans les sciences de la vie","author":"B Falissard","year":"2005","unstructured":"Falissard B: Abr\u00e9g\u00e9s. Comprendre et utiliser les statistiques dans les sciences de la vie. Paris: Masson; 2005:68-2.","edition":"2"},{"key":"533_CR22","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1097\/00005650-199603000-00003","volume":"34","author":"J Ware Jr","year":"1996","unstructured":"Ware J, Kosinski M, Keller SD: A 12-Item Short-Form Health Survey: construction of scales and preliminary tests of reliability and validity. Med Care. 1996, 34: 220-233. 10.1097\/00005650-199603000-00003.","journal-title":"Med Care"},{"key":"533_CR23","first-page":"31","volume-title":"Guide m\u00e9thodologique pour l\u2019\u00e9valuation \u00e9conomique des strat\u00e9gies de sant\u00e9","author":"Coll\u00e8ge des \u00e9conomistes de la sant\u00e9","year":"2003","unstructured":"Coll\u00e8ge des \u00e9conomistes de la sant\u00e9: Guide m\u00e9thodologique pour l\u2019\u00e9valuation \u00e9conomique des strat\u00e9gies de sant\u00e9. 2003, 31-32. [http:\/\/www.ces-asso.org\/docs\/Guide_Methodologique_CES_2003]"},{"key":"533_CR24","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1111\/j.1524-4733.2005.04054.x","volume":"8","author":"D Wild","year":"2005","unstructured":"Wild D, Grove A, Martin M, Eremenco S, McElroy S, Verjee-Lorenz A, Erikson P: ISPOR Task Force for Translation and Cultural Adaptation. Principles of Good Practice for the Translation and Cultural Adaptation Process for Patient-Reported Outcomes (PRO) Measures: report of the ISPOR Task Force for Translation and Cultural Adaptation. Value Health. 2005, 8: 94-104. 10.1111\/j.1524-4733.2005.04054.x.","journal-title":"Value Health"},{"key":"533_CR25","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1111\/j.1525-1470.2010.01160.x","volume":"27","author":"AR Styperek","year":"2010","unstructured":"Styperek AR, Rice ZP, Kamalpour L: Annual direct and indirect health costs of the congenital ichthyoses. Pediatr Dermatol. 2010, 27: 325-336. 10.1111\/j.1525-1470.2010.01160.x.","journal-title":"Pediatr Dermatol"},{"issue":"Suppl 1","key":"533_CR26","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1111\/j.1468-3083.2010.03899.x","volume":"25","author":"C Taieb","year":"2011","unstructured":"Taieb C, Sibaud V, Merial-Kieny C: Impact of Avene hydrotherapy on the quality of life of atopic and psoriatic patients. J Eur Acad Dermatol Venereol. 2011, 25 (Suppl 1): 24-29.","journal-title":"J Eur Acad Dermatol Venereol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-8-28.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T03:21:43Z","timestamp":1714965703000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-8-28"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,15]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["533"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-8-28","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,15]]},"assertion":[{"value":"22 November 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 February 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 February 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"28"}}