Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Inborn Errors of Metabolism and Screening |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401 |
Resumo: | Abstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate management measures and to optimize therapeutic outcomes. The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenuated somatic presentation compared to other MPS types, and the symptom overlap with other developmental disorders. To shorten the time to diagnosis, a list of eight early signs and symptoms was identified through an expert system approach by a global, multidisciplinary working group of 13 specialists with expertise in various aspects of MPS and developmental disorders and three parents of MPS III patients. Coarse facial features and persistent hirsutism or prominent, thick eyebrows were identified as the most important MPS III early signs. The list of eight early MPS III signs and symptoms is the first step towards the development of a clinical algorithm aiming to identify neonates and infants with MPS III before the onset of neurocognitive damage, ultimately shortening the diagnostic journey of MPS III patients. |
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Journal of Inborn Errors of Metabolism and Screening |
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Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis IIIMucopolysaccharidosis IIISanfilippo syndromesignssymptomsdiagnostic algorithmAbstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate management measures and to optimize therapeutic outcomes. The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenuated somatic presentation compared to other MPS types, and the symptom overlap with other developmental disorders. To shorten the time to diagnosis, a list of eight early signs and symptoms was identified through an expert system approach by a global, multidisciplinary working group of 13 specialists with expertise in various aspects of MPS and developmental disorders and three parents of MPS III patients. Coarse facial features and persistent hirsutism or prominent, thick eyebrows were identified as the most important MPS III early signs. The list of eight early MPS III signs and symptoms is the first step towards the development of a clinical algorithm aiming to identify neonates and infants with MPS III before the onset of neurocognitive damage, ultimately shortening the diagnostic journey of MPS III patients.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2020-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401Journal of Inborn Errors of Metabolism and Screening v.8 2020reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1590/2326-4594-jiems-2020-0002info:eu-repo/semantics/openAccessEscolar,MariaBradshaw,JessicaByers,Valerie TharpGiugliani,RobertoGolightly,LynnLourenço,Charles MarquesMcDonald,KimberlyMuschol,NicoleNewsom-Davis,ImogenO’Neill,CaraPeay,Holly L.Siedman,JenniferSolano,Martha L.Wirt,TessaWood,TimZwaigenbaum,Lonnieeng2020-06-12T00:00:00Zoai:scielo:S2326-45942020000100401Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2020-06-12T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
title |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
spellingShingle |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III Escolar,Maria Mucopolysaccharidosis III Sanfilippo syndrome signs symptoms diagnostic algorithm |
title_short |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
title_full |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
title_fullStr |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
title_full_unstemmed |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
title_sort |
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III |
author |
Escolar,Maria |
author_facet |
Escolar,Maria Bradshaw,Jessica Byers,Valerie Tharp Giugliani,Roberto Golightly,Lynn Lourenço,Charles Marques McDonald,Kimberly Muschol,Nicole Newsom-Davis,Imogen O’Neill,Cara Peay,Holly L. Siedman,Jennifer Solano,Martha L. Wirt,Tessa Wood,Tim Zwaigenbaum,Lonnie |
author_role |
author |
author2 |
Bradshaw,Jessica Byers,Valerie Tharp Giugliani,Roberto Golightly,Lynn Lourenço,Charles Marques McDonald,Kimberly Muschol,Nicole Newsom-Davis,Imogen O’Neill,Cara Peay,Holly L. Siedman,Jennifer Solano,Martha L. Wirt,Tessa Wood,Tim Zwaigenbaum,Lonnie |
author2_role |
author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Escolar,Maria Bradshaw,Jessica Byers,Valerie Tharp Giugliani,Roberto Golightly,Lynn Lourenço,Charles Marques McDonald,Kimberly Muschol,Nicole Newsom-Davis,Imogen O’Neill,Cara Peay,Holly L. Siedman,Jennifer Solano,Martha L. Wirt,Tessa Wood,Tim Zwaigenbaum,Lonnie |
dc.subject.por.fl_str_mv |
Mucopolysaccharidosis III Sanfilippo syndrome signs symptoms diagnostic algorithm |
topic |
Mucopolysaccharidosis III Sanfilippo syndrome signs symptoms diagnostic algorithm |
description |
Abstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate management measures and to optimize therapeutic outcomes. The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenuated somatic presentation compared to other MPS types, and the symptom overlap with other developmental disorders. To shorten the time to diagnosis, a list of eight early signs and symptoms was identified through an expert system approach by a global, multidisciplinary working group of 13 specialists with expertise in various aspects of MPS and developmental disorders and three parents of MPS III patients. Coarse facial features and persistent hirsutism or prominent, thick eyebrows were identified as the most important MPS III early signs. The list of eight early MPS III signs and symptoms is the first step towards the development of a clinical algorithm aiming to identify neonates and infants with MPS III before the onset of neurocognitive damage, ultimately shortening the diagnostic journey of MPS III patients. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2326-4594-jiems-2020-0002 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.8 2020 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
_version_ |
1754732520234024960 |