{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T22:35:31Z","timestamp":1779143731804,"version":"3.51.4"},"reference-count":46,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,8,19]],"date-time":"2022-08-19T00:00:00Z","timestamp":1660867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fundaci\u00f3n S\u00edndrome de Stickler","award":["PR-PI17-00004"],"award-info":[{"award-number":["PR-PI17-00004"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Objective: To describe the quality of life and daily functioning of Spanish children and adolescents living with Stickler syndrome (SS) and to estimate the prevalence of associated disease features in a representative sample. Methods: A cross-sectional study of children and adolescents with SS were recruited via telephone calls through the Spanish SS Association. All participants underwent a structured clinical interview and filled in questionnaires reporting their quality of life (EuroQol-5D, TSK-11, CHAQ and PedsQoL). The prevalence of the main features associated with the syndrome and the mean scores of the questionnaires were estimated with 95% confidence intervals (95% CI). Results: The recruited sample included 26 persons who were mainly children (mean age 10.4 \u00b1 4.5 (SD) range: 5\u201314) and male (65.4%). The prevalence estimates of SS features were as follows: the presence of moderate pain (52%), hearing loss 67% (95% CI: 54.8 to 91.3) and myopia 96% (95% CI: 87.2 to 104.4). The mean scores of the QoL indices were as follows: 22.4 (95% CI: 19.2 to 25.5) (\u00b17.5) for TSK-11; 76.2 (95% CI: 68.8 to 83.6) (\u00b117.1) for PedsQoL, 0.8 (95% CI: 0.7 to 0.9) (\u00b10.3) for EQ-5D and 0.61 (95% CI: 0.24 to 1.0) (\u00b10.9) for the cHAQ functional index. Conclusions: Our results confirmed a high variability in syndrome-related manifestations, with a large prevalence of visual and hearing deficits, pain and maxillofacial alterations. These findings may facilitate the detection of the most prevalent problems in this population, which could be a target to be addressed during the treatment of children and adolescents with SS.<\/jats:p>","DOI":"10.3390\/children9081255","type":"journal-article","created":{"date-parts":[[2022,8,21]],"date-time":"2022-08-21T21:05:51Z","timestamp":1661115951000},"page":"1255","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Quality of Life in Children and Adolescents with Stickler Syndrome in Spain"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0557-2222","authenticated-orcid":false,"given":"Juan Jos\u00e9","family":"Fern\u00e1ndez-P\u00e9rez","sequence":"first","affiliation":[{"name":"Grupo de Investigaci\u00f3n en Fisioterapia Toledo (GIFTO), Facultad de Fisioterapia y Enfermer\u00eda, Universidad Castilla-La Mancha, 45071 Toledo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma","family":"Mascaraque-Ruiz","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, CSEU La Salle, UAM, 28023 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9997-1944","authenticated-orcid":false,"given":"Carlos","family":"Mart\u00edn G\u00f3mez","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, 28009 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio","family":"Mart\u00ednez-Caballero","sequence":"additional","affiliation":[{"name":"Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, 28009 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3622-7146","authenticated-orcid":false,"given":"Teresa","family":"Ot\u00f3n","sequence":"additional","affiliation":[{"name":"Instituto de Salud Musculoesquel\u00e9tica, 28045 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loreto","family":"Carmona","sequence":"additional","affiliation":[{"name":"Instituto de Salud Musculoesquel\u00e9tica, 28045 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9382-3855","authenticated-orcid":false,"given":"Sergio Lerma","family":"Lara","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, CSEU La Salle, UAM, 28023 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1097\/00125817-200105000-00008","article-title":"Clinical Features of Hereditary Progressive Arthro-Ophthalmopathy (Stickler Syndrome): A Survey","volume":"3","author":"Stickler","year":"2001","journal-title":"Genet. 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