Qing Ke1, Zheng-Yan Zhao2, Robert Griggs3, Veronica Wiley4, Anne Connolly5, Jennifer Kwon3,6, Ming Qi7, Daniel Sheehan8, Emma Ciafaloni3, R Rodney Howell9, Petra Furu10, Peter Sazani11, Arvind Narayana12, Michele Gatheridge13,14. 1. Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China. 2. Department of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. 3. Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. 4. Disciplines of Genetic Medicine and Pediatric and Child Health, University of Sydney, Sydney, Australia. 5. Departments of Neurology and Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. 6. Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. 7. Center for Genetic & Genomic Medicine, Zhejiang University School of Medicine and James Watson Institute of Genome Sciences, Hangzhou, China. 8. Department of Pediatrics, University of Buffalo, Buffalo, New York, USA. 9. University of Miami, Miami, Florida, USA. 10. Neonatal Screening, PerkinElmer, Turku, Finland. 11. Field Medical Affairs, Marathon Pharmaceuticals, Northbrook, Illinois, USA. 12. Medical Affairs, Sarepta Therapeutics, Cambridge, Massachusetts, USA. 13. Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. Michele.scully@gmail.com. 14. Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave Box 673, Rochester, NY, 14642, USA. Michele.scully@gmail.com.
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.
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.
Authors: Jennifer M Kwon; Hoda Z Abdel-Hamid; Samiah A Al-Zaidy; Jerry R Mendell; Annie Kennedy; Kathi Kinnett; Valerie A Cwik; Natalie Street; Julie Bolen; John W Day; Anne M Connolly Journal: Muscle Nerve Date: 2016-06-13 Impact factor: 3.217
Authors: Jerry R Mendell; Chris Shilling; Nancy D Leslie; Kevin M Flanigan; Roula al-Dahhak; Julie Gastier-Foster; Kelley Kneile; Diane M Dunn; Brett Duval; Alexander Aoyagi; Cindy Hamil; Maha Mahmoud; Kandice Roush; Lauren Bird; Chelsea Rankin; Heather Lilly; Natalie Street; Ram Chandrasekar; Robert B Weiss Journal: Ann Neurol Date: 2012-03 Impact factor: 10.422
Authors: Katharine Bushby; Richard Finkel; David J Birnkrant; Laura E Case; Paula R Clemens; Linda Cripe; Ajay Kaul; Kathi Kinnett; Craig McDonald; Shree Pandya; James Poysky; Frederic Shapiro; Jean Tomezsko; Carolyn Constantin Journal: Lancet Neurol Date: 2009-11-27 Impact factor: 44.182
Authors: Katharine Bushby; Richard Finkel; David J Birnkrant; Laura E Case; Paula R Clemens; Linda Cripe; Ajay Kaul; Kathi Kinnett; Craig McDonald; Shree Pandya; James Poysky; Frederic Shapiro; Jean Tomezsko; Carolyn Constantin Journal: Lancet Neurol Date: 2009-11-27 Impact factor: 44.182
Authors: Qing Ke; Li Zhang; Chaying He; Zhengyan Zhao; Ming Qi; Robert C Griggs; Michele A Gatheridge Journal: Neurology Date: 2016-08-23 Impact factor: 9.910
Authors: Brooke A Migliore; Linran Zhou; Martin Duparc; Veronica R Robles; Catherine W Rehder; Holly L Peay; Katerina S Kucera Journal: Int J Neonatal Screen Date: 2022-01-28