O papel do pediatra na investigação de doenças neuromusculares da infancia
OBJECTIVE: Help the pediatrician in the suspicion of neuromuscular diseases when the child has complaints or altered findings in neuropsychomotor development, presenting one review on the topic. METHODOLOGY: Non-systematic literature review using articles published between 2015 and 2021 obtained wi...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Pediatria
2023-12-01
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| Series: | Residência Pediátrica |
| Subjects: | |
| Online Access: | https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4e901.pdf |
| _version_ | 1797215240214020096 |
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| author | Alexandra Prufer de Queiroz Campos Araújo Clarisse Pereira Dias Drumond Fortes Flavia Nardes Eduardo Jorge Salmo Raskin |
| author_facet | Alexandra Prufer de Queiroz Campos Araújo Clarisse Pereira Dias Drumond Fortes Flavia Nardes Eduardo Jorge Salmo Raskin |
| author_sort | Alexandra Prufer de Queiroz Campos Araújo |
| collection | DOAJ |
| description | OBJECTIVE: Help the pediatrician in the suspicion of neuromuscular diseases when the child has complaints or altered findings in neuropsychomotor development, presenting one review on the topic.
METHODOLOGY: Non-systematic literature review using articles published between 2015 and 2021 obtained with the terms “neuromuscular disorders” and “children”; “neuromuscular disorders” and “pediatric”; “milestones” and “delay”; “motor development” and “delay”; “development”and “neuromuscular disorders”; “neuromuscular disorder” and “evaluation”; “neuromuscular disorders” and “examination” in the Lilacs, Medline, Paho, Wholis and Scielo research bases.
RESULTS: Data found in the review were compiled and divided into three topics: (1) Warning signs for neuromuscular diseases: how history and physical examination help define hypotonia and signs of muscle weakness; (2) Differential Etiological Diagnoses: most common clinical presentations and brief description of the main diseases with available therapies; and (3) Investigation of Neuromuscular Diseases: examples of situations divided between those with central or peripheral hypotonia, the use of creatine phosphokinase dosage in cases of muscle weakness and motor delay and examples of confirmatory tests of neuromuscular diseases with therapeutic possibilities.
CONCLUSION: Although neuromuscular diseases are individually rare, they may have specific treatment that modifies their natural history, then the important differential diagnosis when there is a delay in neuropsychomotor development. It is imperative that the pediatrician, as a reference professional for families, have a high degree of suspicion and knowledge that allows initial assessment and referral to a specialized service. |
| first_indexed | 2024-04-24T11:26:55Z |
| format | Article |
| id | doaj.art-8c4369fa587443caadf7b77348b23a9e |
| institution | Directory Open Access Journal |
| issn | 2236-6814 |
| language | English |
| last_indexed | 2024-04-24T11:26:55Z |
| publishDate | 2023-12-01 |
| publisher | Sociedade Brasileira de Pediatria |
| record_format | Article |
| series | Residência Pediátrica |
| spelling | doaj.art-8c4369fa587443caadf7b77348b23a9e2024-04-10T14:33:29ZengSociedade Brasileira de PediatriaResidência Pediátrica2236-68142023-12-0113410.25060/residpediatr-2023.v13n4-901O papel do pediatra na investigação de doenças neuromusculares da infanciaAlexandra Prufer de Queiroz Campos Araújo0Clarisse Pereira Dias Drumond Fortes1Flavia Nardes2Eduardo Jorge3Salmo Raskin4UFRJ, Serviço de Neuropediatria do IPPMG - RIO DE JANEIRO - RJ - Brasil; UFRJ, Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG) - RIO DE JANEIRO - RJ - BrasilUFRJ, Serviço de Neuropediatria do IPPMG - RIO DE JANEIRO - RJ - Brasil; UFRJ, Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG) - RIO DE JANEIRO - RJ - BrasilUFRJ, Serviço de Neuropediatria do IPPMG - RIO DE JANEIRO - RJ - Brasil; UFRJ, Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG) - RIO DE JANEIRO - RJ - BrasilUERJ, Hospital Universitario Pedro Ernesto - RIO DE JANEIRO - RJ - BrasilCentro de Aconselhamento e Laboratório Genetika, Genética - Curitiba - Paraná - BrasilOBJECTIVE: Help the pediatrician in the suspicion of neuromuscular diseases when the child has complaints or altered findings in neuropsychomotor development, presenting one review on the topic. METHODOLOGY: Non-systematic literature review using articles published between 2015 and 2021 obtained with the terms “neuromuscular disorders” and “children”; “neuromuscular disorders” and “pediatric”; “milestones” and “delay”; “motor development” and “delay”; “development”and “neuromuscular disorders”; “neuromuscular disorder” and “evaluation”; “neuromuscular disorders” and “examination” in the Lilacs, Medline, Paho, Wholis and Scielo research bases. RESULTS: Data found in the review were compiled and divided into three topics: (1) Warning signs for neuromuscular diseases: how history and physical examination help define hypotonia and signs of muscle weakness; (2) Differential Etiological Diagnoses: most common clinical presentations and brief description of the main diseases with available therapies; and (3) Investigation of Neuromuscular Diseases: examples of situations divided between those with central or peripheral hypotonia, the use of creatine phosphokinase dosage in cases of muscle weakness and motor delay and examples of confirmatory tests of neuromuscular diseases with therapeutic possibilities. CONCLUSION: Although neuromuscular diseases are individually rare, they may have specific treatment that modifies their natural history, then the important differential diagnosis when there is a delay in neuropsychomotor development. It is imperative that the pediatrician, as a reference professional for families, have a high degree of suspicion and knowledge that allows initial assessment and referral to a specialized service.https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4e901.pdfdevelopment indicatorschild developmentmuscle hypotonia |
| spellingShingle | Alexandra Prufer de Queiroz Campos Araújo Clarisse Pereira Dias Drumond Fortes Flavia Nardes Eduardo Jorge Salmo Raskin O papel do pediatra na investigação de doenças neuromusculares da infancia Residência Pediátrica development indicators child development muscle hypotonia |
| title | O papel do pediatra na investigação de doenças neuromusculares da infancia |
| title_full | O papel do pediatra na investigação de doenças neuromusculares da infancia |
| title_fullStr | O papel do pediatra na investigação de doenças neuromusculares da infancia |
| title_full_unstemmed | O papel do pediatra na investigação de doenças neuromusculares da infancia |
| title_short | O papel do pediatra na investigação de doenças neuromusculares da infancia |
| title_sort | o papel do pediatra na investigacao de doencas neuromusculares da infancia |
| topic | development indicators child development muscle hypotonia |
| url | https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4e901.pdf |
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