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Open AccessArticle

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study

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
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Diagnostics 2019, 9(4), 187; https://doi.org/10.3390/diagnostics9040187
Received: 26 August 2019 / Revised: 29 September 2019 / Accepted: 1 October 2019 / Published: 13 November 2019
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management)
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—via a chart review and a survey of caregivers—the 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. View Full-Text
Keywords: mucopolysaccharidoses; otolaryngology; early diagnosis; respiratory tract mucopolysaccharidoses; otolaryngology; early diagnosis; respiratory tract
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MDPI and ACS Style

Torres, D.d.A.; Barth, A.L.; Valente, M.P.d.M.; Mello, P.P.d.; Horovitz, D.D.G. Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study. Diagnostics 2019, 9, 187. https://doi.org/10.3390/diagnostics9040187

AMA Style

Torres DdA, Barth AL, Valente MPdM, Mello PPd, Horovitz DDG. Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study. Diagnostics. 2019; 9(4):187. https://doi.org/10.3390/diagnostics9040187

Chicago/Turabian Style

Torres, Danielle d.A.; Barth, Anneliese L.; Valente, Mariana P.d.M.; Mello, Paulo P.d.; Horovitz, Dafne D.G. 2019. "Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study" Diagnostics 9, no. 4: 187. https://doi.org/10.3390/diagnostics9040187

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