Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

Detalhes bibliográficos
Autor(a) principal: Escolar,Maria
Data de Publicação: 2020
Outros Autores: 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
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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spelling 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
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