Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses

Detalhes bibliográficos
Autor(a) principal: Scarpa,Maurizio
Data de Publicação: 2018
Outros Autores: Harmatz,Paul R., Meesen,Bianca, Giugliani,Roberto
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=S2326-45942018000100304
Resumo: Abstract The mucopolysaccharidosis (MPS) disorders are a group of rare, inherited lysosomal storage disorders. In each of the 11 MPS (sub)types, deficiency in a specific lysosomal enzyme (1 of 11 identified enzymes) leads to accumulation of glycosaminoglycans, resulting in cell, tissue, and multi-organ dysfunction. There is great heterogeneity in the clinical manifestations both between and within each MPS type. Somatic signs and symptoms include short stature, coarse facial features, skeletal and joint abnormalities, cardiorespiratory dysfunction, hepatosplenomegaly, and vision and hearing problems. In addition, patients with MPS I, II, III, and VII can have significant neurological manifestations, including impaired cognitive, language, and speech abilities, behavioral abnormalities, sleep problems, and/or epileptic seizures. Hydrocephalus is a frequent finding in patients with MPS I, II, and VI. Spinal cord compression can develop in almost all MPS disorders. Effective management and development of therapies that target these neurological manifestations warrant a profound understanding of their pathophysiology and progression in the different MPS types and best practices for evaluation and treatment. In order to obtain expert opinion addressing these topics we performed an online survey among an international group of experts with extensive experience in managing and treating MPS disorders. The results of this survey provide important insights into the management of neurological manifestations of MPS in clinical practice and are a valuable addition to current evidence.
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spelling Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidosesmucopolysaccharidosesneurobehavioral manifestationscognition disorderssurveyassessmenttreatmentAbstract The mucopolysaccharidosis (MPS) disorders are a group of rare, inherited lysosomal storage disorders. In each of the 11 MPS (sub)types, deficiency in a specific lysosomal enzyme (1 of 11 identified enzymes) leads to accumulation of glycosaminoglycans, resulting in cell, tissue, and multi-organ dysfunction. There is great heterogeneity in the clinical manifestations both between and within each MPS type. Somatic signs and symptoms include short stature, coarse facial features, skeletal and joint abnormalities, cardiorespiratory dysfunction, hepatosplenomegaly, and vision and hearing problems. In addition, patients with MPS I, II, III, and VII can have significant neurological manifestations, including impaired cognitive, language, and speech abilities, behavioral abnormalities, sleep problems, and/or epileptic seizures. Hydrocephalus is a frequent finding in patients with MPS I, II, and VI. Spinal cord compression can develop in almost all MPS disorders. Effective management and development of therapies that target these neurological manifestations warrant a profound understanding of their pathophysiology and progression in the different MPS types and best practices for evaluation and treatment. In order to obtain expert opinion addressing these topics we performed an online survey among an international group of experts with extensive experience in managing and treating MPS disorders. The results of this survey provide important insights into the management of neurological manifestations of MPS in clinical practice and are a valuable addition to current evidence.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2018-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100304Journal of Inborn Errors of Metabolism and Screening v.6 2018reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409818759370info:eu-repo/semantics/openAccessScarpa,MaurizioHarmatz,Paul R.Meesen,BiancaGiugliani,Robertoeng2019-03-22T00:00:00Zoai:scielo:S2326-45942018000100304Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-03-22T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false
dc.title.none.fl_str_mv Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
title Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
spellingShingle Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
Scarpa,Maurizio
mucopolysaccharidoses
neurobehavioral manifestations
cognition disorders
survey
assessment
treatment
title_short Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
title_full Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
title_fullStr Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
title_full_unstemmed Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
title_sort Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
author Scarpa,Maurizio
author_facet Scarpa,Maurizio
Harmatz,Paul R.
Meesen,Bianca
Giugliani,Roberto
author_role author
author2 Harmatz,Paul R.
Meesen,Bianca
Giugliani,Roberto
author2_role author
author
author
dc.contributor.author.fl_str_mv Scarpa,Maurizio
Harmatz,Paul R.
Meesen,Bianca
Giugliani,Roberto
dc.subject.por.fl_str_mv mucopolysaccharidoses
neurobehavioral manifestations
cognition disorders
survey
assessment
treatment
topic mucopolysaccharidoses
neurobehavioral manifestations
cognition disorders
survey
assessment
treatment
description Abstract The mucopolysaccharidosis (MPS) disorders are a group of rare, inherited lysosomal storage disorders. In each of the 11 MPS (sub)types, deficiency in a specific lysosomal enzyme (1 of 11 identified enzymes) leads to accumulation of glycosaminoglycans, resulting in cell, tissue, and multi-organ dysfunction. There is great heterogeneity in the clinical manifestations both between and within each MPS type. Somatic signs and symptoms include short stature, coarse facial features, skeletal and joint abnormalities, cardiorespiratory dysfunction, hepatosplenomegaly, and vision and hearing problems. In addition, patients with MPS I, II, III, and VII can have significant neurological manifestations, including impaired cognitive, language, and speech abilities, behavioral abnormalities, sleep problems, and/or epileptic seizures. Hydrocephalus is a frequent finding in patients with MPS I, II, and VI. Spinal cord compression can develop in almost all MPS disorders. Effective management and development of therapies that target these neurological manifestations warrant a profound understanding of their pathophysiology and progression in the different MPS types and best practices for evaluation and treatment. In order to obtain expert opinion addressing these topics we performed an online survey among an international group of experts with extensive experience in managing and treating MPS disorders. The results of this survey provide important insights into the management of neurological manifestations of MPS in clinical practice and are a valuable addition to current evidence.
publishDate 2018
dc.date.none.fl_str_mv 2018-01-01
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=S2326-45942018000100304
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100304
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1177/2326409818759370
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.6 2018
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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