{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T12:17:07Z","timestamp":1788005827182,"version":"build-2784847793"},"reference-count":29,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["1391450"],"award-info":[{"award-number":["1391450"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential because the involvement of head and neck structures is almost always present in MPS. Our study aimed to retrospectively assess\u2014via a chart review and a survey of caregivers\u2014the history of ear, nose and throat (ENT) symptoms, the number of otolaryngology visits prior to diagnosis, and whether otolaryngologists diagnosed the disease in a cohort of MPS patients followed at an academic medical center. Twenty-three patients were evaluated. Age at diagnosis ranged from 0.2 to 33.0 years (median, 3.2 years). Prior to being diagnosed with MPS, 20\/23 (87%) patients presented with at least one episode of otalgia, airway disorder, sleep disturbance, speech delay or suspected hearing loss. One patient had an adenotonsillectomy with paracentesis of tympanic membranes. Ten of the 23 patients (43%) were seen by an otolaryngologist before the diagnosis of MPS, none of which had the disease suspected during these visits. Notwithstanding limitations, our results suggest that increased awareness of MPS among otolaryngologists may allow for earlier diagnosis and better management of these patients.<\/jats:p>","DOI":"10.3390\/diagnostics9040187","type":"journal-article","created":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T09:11:27Z","timestamp":1573636287000},"page":"187","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1520-1839","authenticated-orcid":false,"given":"Danielle de Araujo","family":"Torres","sequence":"first","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneliese Lopes","family":"Barth","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Pires de Mello","family":"Valente","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0811-3582","authenticated-orcid":false,"given":"Paulo Pires de","family":"Mello","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dafne Dain Gandelman","family":"Horovitz","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, Av Rui Barbosa 716, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,11,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s004390050641","article-title":"Incidence of the mucopolysaccharidoses in Northern Ireland","volume":"101","author":"Nelson","year":"1997","journal-title":"Hum. 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