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. 2022 Jun;190(2):162-168.
doi: 10.1002/ajmg.c.31993. Epub 2022 Aug 5.

Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care

Niki Armstrong  1 , Rachel Schrader  1 , Ryan Fischer  1 , Norah Crossnohere  1
Affiliations

Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care

Niki Armstrong et al. Am J Med Genet C Semin Med Genet. 2022 Jun.

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.

Keywords: Duchenne; newborn screening; provider perspectives.

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Conflict of interest statement

None.

Figures

FIGURE 1
FIGURE 1
Benefit to newborn screening for dystrophinopathies
FIGURE 2
FIGURE 2
Readiness as a community who cares for children with dystrophinopathy for newborn screening for dystrophinopathies
FIGURE 3
FIGURE 3
Physician care recommendations for the initial visit. Percentages reflect the total percentage of physicians who recommended the intervention at the initial visits. Number in the bar reflects physician responses (n = 26) to Question 1 regarding benefit of NBS
FIGURE 4
FIGURE 4
Recommended age to initiate corticosteroids
FIGURE 5
FIGURE 5
Optimal time to begin exon skipping therapy
See this image and copyright information in PMC

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