ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2022
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The trial behind it
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Who cites it
9 citing papers in PubMed.
- Duchenne Muscular Dystrophy Under Three Years of Age.Children (Basel, Switzerland) · 2026Article
- Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals.Orphanet journal of rare diseases · 2024Article
- Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.International journal of neonatal screening · 2024Article
- Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.The Lancet regional health. Western Pacific · 2024Article
- The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.Journal of neuromuscular diseases · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Implications of notch signaling in duchenne muscular dystrophy.Frontiers in physiology · 2022Review
- Optimizing DMD management in Asia: Current challenges and future directions.Journal of neuromuscular diseasesArticle
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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