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...

Descripción completa

Detalles Bibliográficos
Autores principales: Armstrong, Niki, Schrader, Rachel, Fischer, Ryan, Crossnohere, Norah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
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
_version_ 1784862099919339520
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
work_keys_str_mv AT armstrongniki duchenneexpertphysicianperspectivesonduchennenewbornscreeningandearlyduchennecare
AT schraderrachel duchenneexpertphysicianperspectivesonduchennenewbornscreeningandearlyduchennecare
AT fischerryan duchenneexpertphysicianperspectivesonduchennenewbornscreeningandearlyduchennecare
AT crossnoherenorah duchenneexpertphysicianperspectivesonduchennenewbornscreeningandearlyduchennecare