Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care
Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD. Our objective was to explore the perspectives and...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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John Wiley & Sons, Inc.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804401/ https://www.ncbi.nlm.nih.gov/pubmed/35932090 http://dx.doi.org/10.1002/ajmg.c.31993 |
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author | Armstrong, Niki Schrader, Rachel Fischer, Ryan Crossnohere, Norah |
author_facet | Armstrong, Niki Schrader, Rachel Fischer, Ryan Crossnohere, Norah |
author_sort | Armstrong, Niki |
collection | PubMed |
description | Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD. Our objective was to explore the perspectives and predicted practices of physicians (primarily neurologists) who will likely be responsible for the follow‐up of infants identified with DMD through NBS. A short survey was developed and distributed to physicians who are responsible for providing care for patients with Duchenne at Certified Duchenne Care Centers across the USA. Twenty‐seven physicians responded to statements about benefit and readiness for dystrophinopathy NBS, which care recommendations they would make at initial infant visits, and when they would recommend initiating approved therapies. Most DMD physicians indicated they see benefit in NBS (82%) and believe the DMD care community is ready for NBS in dystrophinopathies (74%). The majority of physicians would recommend multiple interventions, including genetic counseling, maternal carrier testing, referral to early intervention services, screening siblings, discussion of clinical trials, exon skipping therapies, and assessment of social and language development at initial visits. The majority of physicians also indicated they would recommend initiating approved therapies much earlier than the typical age of diagnosis. |
format | Online Article Text |
id | pubmed-9804401 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98044012023-01-03 Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care Armstrong, Niki Schrader, Rachel Fischer, Ryan Crossnohere, Norah Am J Med Genet C Semin Med Genet Research Articles Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD. Our objective was to explore the perspectives and predicted practices of physicians (primarily neurologists) who will likely be responsible for the follow‐up of infants identified with DMD through NBS. A short survey was developed and distributed to physicians who are responsible for providing care for patients with Duchenne at Certified Duchenne Care Centers across the USA. Twenty‐seven physicians responded to statements about benefit and readiness for dystrophinopathy NBS, which care recommendations they would make at initial infant visits, and when they would recommend initiating approved therapies. Most DMD physicians indicated they see benefit in NBS (82%) and believe the DMD care community is ready for NBS in dystrophinopathies (74%). The majority of physicians would recommend multiple interventions, including genetic counseling, maternal carrier testing, referral to early intervention services, screening siblings, discussion of clinical trials, exon skipping therapies, and assessment of social and language development at initial visits. The majority of physicians also indicated they would recommend initiating approved therapies much earlier than the typical age of diagnosis. John Wiley & Sons, Inc. 2022-08-05 2022-06 /pmc/articles/PMC9804401/ /pubmed/35932090 http://dx.doi.org/10.1002/ajmg.c.31993 Text en © 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Articles Armstrong, Niki Schrader, Rachel Fischer, Ryan Crossnohere, Norah Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
title | Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
title_full | Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
title_fullStr | Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
title_full_unstemmed | Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
title_short | Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
title_sort | duchenne expert physician perspectives on duchenne newborn screening and early duchenne care |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804401/ https://www.ncbi.nlm.nih.gov/pubmed/35932090 http://dx.doi.org/10.1002/ajmg.c.31993 |
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