{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:27:26Z","timestamp":1786116446737,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Achondroplasia is an autosomal dominant genetic disorder, characterised by distinctive growth patterns and recognisable skeletal features. This study aimed to determine the demographic and clinical characteristics, quality of life (QoL) losses, and expectations of individuals with achondroplasia in T\u00fcrkiye.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>In this survey\u2010based study, Computer\u2010Assisted Telephone Interviewing (CATI) system was used and questions were directed to patients or their parents via phone calls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>A total of 140 patients with achondroplasia, of whom 50.7% were male (age range, 0\u201320 years) were included.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements<\/jats:title>\n                    <jats:p>The questionnaire forms were prepared by a committee including clinicians and the president of the Achondroplasia and Families Association. The forms included questions on sociodemographic characteristics, diagnosis and treatment, expectations from the patient association, and quality of life.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Achondroplasia was commonly diagnosed by obstetricians (76.5%) and the patients were followed by multiple specialties. Of the patients, 10% received growth hormone treatment, and 55.7% underwent at least one surgical procedure, with 23.6% undergoing limb lengthening surgery. The main symptoms frequently\/very frequently observed in the patients were: sleep\u2010disordered breathing (40%), recurrent ear infections (32%), and frequent respiratory tract infections (28%). The primary concerns involved experiences of social exclusion due to physical appearance and together with related psychological challenges. The main expectations of the participants and parents from the association were to receive education on achondroplasia management and new treatment options, and to promote public awareness.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Patients with achondroplasia face significant challenges in daily life, they require medical treatment and some supportive services to improve their quality of life.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70190","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T10:14:53Z","timestamp":1786011293000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Self\u2010Reported Health Burden and Quality\u2010of\u2010Life\u2013Related Concerns in Patients With Achondroplasia: A Survey From T\u00fcrkiye"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4584-2976","authenticated-orcid":false,"given":"Zehra","family":"Aycan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine Ankara University Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Berge","sequence":"additional","affiliation":[{"name":"Achondroplasia and Families Association Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukran","family":"Darcan","sequence":"additional","affiliation":[{"name":"Turkish Society for Pediatric Endocrinology and Diabetes Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadet Olcay","family":"Evliyaoglu","sequence":"additional","affiliation":[{"name":"Turkish Society for Pediatric Endocrinology and Diabetes Istanbul T\u00fcrkiye"},{"name":"Pediatric Endocrinology Department, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010 Cerrahpa\u015fa Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9497-3118","authenticated-orcid":false,"given":"Fatih Suheyl","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gazi University Faculty of Medicine Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7257-4618","authenticated-orcid":false,"given":"Ercan","family":"Mihci","sequence":"additional","affiliation":[{"name":"Department of Child Health and Diseases, Division of Pediatric Genetic Akdeniz University Faculty of Medicine Antalya T\u00fcrkiye"},{"name":"Children's Genetic Diseases Association Izmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7542-7787","authenticated-orcid":false,"given":"Feristah Ferda","family":"Ozkinay","sequence":"additional","affiliation":[{"name":"Children's Genetic Diseases Association Izmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.berh.2007.12.008","article-title":"Achondroplasia","volume":"22","author":"Baujat G.","year":"2008","journal-title":"Best Practice & Research Clinical Rheumatology"},{"key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1002\/ajmg.a.61787","article-title":"Birth Prevalence of Achondroplasia: A Systematic Literature Review and Meta\u2010Analysis","volume":"182","author":"Foreman P. K.","year":"2020","journal-title":"American Journal of Medical Genetics, Part A"},{"key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jbspin.2007.06.007","article-title":"Achondroplasia: From Genotype to Phenotype","volume":"75","author":"Richette P.","year":"2008","journal-title":"Joint, Bone, Spine"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"423.e1","DOI":"10.1016\/j.anpede.2022.10.004","article-title":"Achondroplasia: Update on Diagnosis, Follow\u2010Up and Treatment","volume":"97","author":"Leiva\u2010Gea A.","year":"2022","journal-title":"Anales de Pediatr\u00eda (English Edition)"},{"key":"e_1_2_9_6_1","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1038\/s41574-024-01074-9","article-title":"International Consensus Guidelines on the Implementation and Monitoring of Vosoritide Therapy in Individuals With Achondroplasia","volume":"21","author":"Savarirayan R.","year":"2025","journal-title":"Nature Reviews Endocrinology"},{"key":"e_1_2_9_7_1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1186\/s13023-023-02811-5","article-title":"Higher Rates of Non\u2010Skeletal Complications and Greater Healthcare Needs in Achondroplasia Compared to the General UK Population: A Matched Cohort Study Using the CPRD Database","volume":"18","author":"Pimenta J. 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M.","year":"2021","journal-title":"Quality of Life Research"},{"key":"e_1_2_9_27_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2024.104984","article-title":"Feasibility Study of the Psychosocial Effects of an Online Mindfulness Intervention in Children and Adolescents With Achondroplasia and Their Parents","volume":"72","author":"Casellas \u00c0.","year":"2024","journal-title":"European Journal of Medical Genetics"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.70190","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cen.70190","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.70190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T10:14:57Z","timestamp":1786011297000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.70190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,6]]},"references-count":26,"alternative-id":["10.1111\/cen.70190"],"URL":"https:\/\/doi.org\/10.1111\/cen.70190","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,6]]},"assertion":[{"value":"2026-02-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"cen.70190"}}