Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,

Detalhes bibliográficos
Autor(a) principal: Pereira,Aline Chacon
Data de Publicação: 2020
Outros Autores: Araújo,Alexandra Prufer de Queiroz Campos, Ribeiro,Márcia Gonçalves
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal de Pediatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572020000400503
Resumo: Abstract Objective: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10 meters, and time to run 10 meters, evaluating them as eventual diagnostic screening tools. Methods: This is an analytical, observational, retrospective (1998-2015), and prospective study (2015-2018). Cases were recruited from the database of the pediatric neurology department and the healthy, from child care consultations, with normal gait development (up to 15 months) and without other comorbidities (neuromuscular, pulmonary, heart diseases) from the same university hospital. Results: 128 Duchenne muscular dystrophy patients and 344 healthy children were analyzed, equally distributed in age groups. In Duchenne muscular dystrophy, there is a progressive increase in the means of the times to perform the motor tests according to the age group, which accelerates very abruptly after 7 years of age. Healthy children acquire maximum motor capacity at 6 years and stabilize their times. The time to rise showed a p-value <0.05 and a strong association (effect size [ES] >0.8) in all age groups (except at 12 years), with time to walk 10 meters from 9 years, and with time to run 10 meters , from 5 years. The 100% sensitivity points were defined as follows: time to rise, at 2 s; time to walk 10 meters, 5 s; time to run 10 meters, 4 s. Conclusions: Time to rise is a useful and simple tool in the screening of neuromuscular disorders such as Duchenne muscular dystrophy, a previously incurable disease with new perspectives for treatment.
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spelling Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,Motor skillsWalkingChild developmentMotor activityChild development deviationsDevelopmental delay disordersAbstract Objective: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10 meters, and time to run 10 meters, evaluating them as eventual diagnostic screening tools. Methods: This is an analytical, observational, retrospective (1998-2015), and prospective study (2015-2018). Cases were recruited from the database of the pediatric neurology department and the healthy, from child care consultations, with normal gait development (up to 15 months) and without other comorbidities (neuromuscular, pulmonary, heart diseases) from the same university hospital. Results: 128 Duchenne muscular dystrophy patients and 344 healthy children were analyzed, equally distributed in age groups. In Duchenne muscular dystrophy, there is a progressive increase in the means of the times to perform the motor tests according to the age group, which accelerates very abruptly after 7 years of age. Healthy children acquire maximum motor capacity at 6 years and stabilize their times. The time to rise showed a p-value <0.05 and a strong association (effect size [ES] >0.8) in all age groups (except at 12 years), with time to walk 10 meters from 9 years, and with time to run 10 meters , from 5 years. The 100% sensitivity points were defined as follows: time to rise, at 2 s; time to walk 10 meters, 5 s; time to run 10 meters, 4 s. Conclusions: Time to rise is a useful and simple tool in the screening of neuromuscular disorders such as Duchenne muscular dystrophy, a previously incurable disease with new perspectives for treatment.Sociedade Brasileira de Pediatria2020-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572020000400503Jornal de Pediatria v.96 n.4 2020reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2019.02.003info:eu-repo/semantics/openAccessPereira,Aline ChaconAraújo,Alexandra Prufer de Queiroz CamposRibeiro,Márcia Gonçalveseng2020-08-24T00:00:00Zoai:scielo:S0021-75572020000400503Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2020-08-24T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false
dc.title.none.fl_str_mv Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
title Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
spellingShingle Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
Pereira,Aline Chacon
Motor skills
Walking
Child development
Motor activity
Child development deviations
Developmental delay disorders
title_short Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
title_full Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
title_fullStr Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
title_full_unstemmed Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
title_sort Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?,
author Pereira,Aline Chacon
author_facet Pereira,Aline Chacon
Araújo,Alexandra Prufer de Queiroz Campos
Ribeiro,Márcia Gonçalves
author_role author
author2 Araújo,Alexandra Prufer de Queiroz Campos
Ribeiro,Márcia Gonçalves
author2_role author
author
dc.contributor.author.fl_str_mv Pereira,Aline Chacon
Araújo,Alexandra Prufer de Queiroz Campos
Ribeiro,Márcia Gonçalves
dc.subject.por.fl_str_mv Motor skills
Walking
Child development
Motor activity
Child development deviations
Developmental delay disorders
topic Motor skills
Walking
Child development
Motor activity
Child development deviations
Developmental delay disorders
description Abstract Objective: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10 meters, and time to run 10 meters, evaluating them as eventual diagnostic screening tools. Methods: This is an analytical, observational, retrospective (1998-2015), and prospective study (2015-2018). Cases were recruited from the database of the pediatric neurology department and the healthy, from child care consultations, with normal gait development (up to 15 months) and without other comorbidities (neuromuscular, pulmonary, heart diseases) from the same university hospital. Results: 128 Duchenne muscular dystrophy patients and 344 healthy children were analyzed, equally distributed in age groups. In Duchenne muscular dystrophy, there is a progressive increase in the means of the times to perform the motor tests according to the age group, which accelerates very abruptly after 7 years of age. Healthy children acquire maximum motor capacity at 6 years and stabilize their times. The time to rise showed a p-value <0.05 and a strong association (effect size [ES] >0.8) in all age groups (except at 12 years), with time to walk 10 meters from 9 years, and with time to run 10 meters , from 5 years. The 100% sensitivity points were defined as follows: time to rise, at 2 s; time to walk 10 meters, 5 s; time to run 10 meters, 4 s. Conclusions: Time to rise is a useful and simple tool in the screening of neuromuscular disorders such as Duchenne muscular dystrophy, a previously incurable disease with new perspectives for treatment.
publishDate 2020
dc.date.none.fl_str_mv 2020-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572020000400503
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.jped.2019.02.003
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 Sociedade Brasileira de Pediatria
publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
dc.source.none.fl_str_mv Jornal de Pediatria v.96 n.4 2020
reponame:Jornal de Pediatria (Online)
instname:Sociedade Brasileira de Pediatria (SBP)
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instname_str Sociedade Brasileira de Pediatria (SBP)
instacron_str SBPE
institution SBPE
reponame_str Jornal de Pediatria (Online)
collection Jornal de Pediatria (Online)
repository.name.fl_str_mv Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)
repository.mail.fl_str_mv ||jped@jped.com.br
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