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Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment

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Abstract

Background

Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province, China and is under consideration in other countries, including the United States. As China begins to implement DMD newborn screening (DMD-NBS), there is ongoing discussion regarding the steps forward for follow up care of positively identified patients as well as false positive and false negative results.

Data sources

Relevant papers related to DMD-NBS, and NBS in China were reviewed in PubMed.

Results

The current state of DMD-NBS is discussed, along with the steps needed to effectively screen infants for this disease in China, recommendations for establishment of follow up care in patients with positive and negative screens, and measurement of patient outcomes.

Conclusions

Zhejiang Province, China is ready to implement DMD-NBS. Future challenges that exist for this program, and other countries, include the ability to track patients, assist with access to care, and ensure adequate follow-up care according to evidence-based guidelines. In addition, China’s large rural population, lack of specialty providers, and difficulty in educating patients regarding the benefits of treatment create challenges that will need to be addressed.

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Authors and Affiliations

  1. Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Qing Ke

  2. Department of Child Health Care, Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Zheng-Yan Zhao

  3. Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA

    Robert Griggs, Jennifer Kwon, Emma Ciafaloni & Michele Gatheridge

  4. Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA

    Jennifer Kwon

  5. Disciplines of Genetic Medicine and Pediatric and Child Health, University of Sydney, Sydney, Australia

    Veronica Wiley

  6. Departments of Neurology and Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA

    Anne Connolly

  7. Center for Genetic & Genomic Medicine, Zhejiang University School of Medicine and James Watson Institute of Genome Sciences, Hangzhou, China

    Ming Qi

  8. Department of Pediatrics, University of Buffalo, Buffalo, New York, USA

    Daniel Sheehan

  9. University of Miami, Miami, Florida, USA

    R. Rodney Howell

  10. Neonatal Screening, PerkinElmer, Turku, Finland

    Petra Furu

  11. Field Medical Affairs, Marathon Pharmaceuticals, Northbrook, Illinois, USA

    Peter Sazani

  12. Medical Affairs, Sarepta Therapeutics, Cambridge, Massachusetts, USA

    Arvind Narayana

  13. Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave Box 673, Rochester, NY, 14642, USA

    Michele Gatheridge

Authors
  1. Qing Ke
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  2. Zheng-Yan Zhao
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  3. Robert Griggs
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  4. Veronica Wiley
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  5. Anne Connolly
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  6. Jennifer Kwon
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  7. Ming Qi
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  8. Daniel Sheehan
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  9. Emma Ciafaloni
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  10. R. Rodney Howell
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  11. Petra Furu
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  12. Peter Sazani
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  13. Arvind Narayana
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  14. Michele Gatheridge
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Corresponding author

Correspondence to Michele Gatheridge.

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Ke, Q., Zhao, ZY., Griggs, R. et al. Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment. World J Pediatr 13, 197–201 (2017). https://doi.org/10.1007/s12519-017-0036-3

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  • DOI: https://doi.org/10.1007/s12519-017-0036-3

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