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

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 revie...

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Autores principales: Torres, Danielle de Araujo, Barth, Anneliese Lopes, Valente, Mariana Pires de Mello, de Mello, Paulo Pires, Horovitz, Dafne Dain Gandelman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963463/
https://www.ncbi.nlm.nih.gov/pubmed/31766106
http://dx.doi.org/10.3390/diagnostics9040187
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author Torres, Danielle de Araujo
Barth, Anneliese Lopes
Valente, Mariana Pires de Mello
de Mello, Paulo Pires
Horovitz, Dafne Dain Gandelman
author_facet Torres, Danielle de Araujo
Barth, Anneliese Lopes
Valente, Mariana Pires de Mello
de Mello, Paulo Pires
Horovitz, Dafne Dain Gandelman
author_sort Torres, Danielle de Araujo
collection PubMed
description 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.
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spelling pubmed-69634632020-01-30 Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study Torres, Danielle de Araujo Barth, Anneliese Lopes Valente, Mariana Pires de Mello de Mello, Paulo Pires Horovitz, Dafne Dain Gandelman Diagnostics (Basel) Article 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. MDPI 2019-11-13 /pmc/articles/PMC6963463/ /pubmed/31766106 http://dx.doi.org/10.3390/diagnostics9040187 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Torres, Danielle de Araujo
Barth, Anneliese Lopes
Valente, Mariana Pires de Mello
de Mello, Paulo Pires
Horovitz, Dafne Dain Gandelman
Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
title Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
title_full Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
title_fullStr Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
title_full_unstemmed Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
title_short Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
title_sort otolaryngologists and the early diagnosis of mucopolysaccharidoses: a cross-sectional study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963463/
https://www.ncbi.nlm.nih.gov/pubmed/31766106
http://dx.doi.org/10.3390/diagnostics9040187
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