Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment
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Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment Qing Ke, Zheng-Yan Zhao, Robert Griggs, Veronica Wiley, Anne Connolly, Jennifer Kwon, Ming Qi, Daniel Sheehan, Emma Ciafaloni, R Rodney Howell, Petra Furu, Peter Sazani, Arvind Narayana, Michele Gatheridge Rochester, USA
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
Author Affiliations: Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China (Ke Q); Department of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China (Zhao ZY); Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA (Griggs R); Disciplines of Genetic Medicine and Pediatric and Child Health, University of Sydney, Australia (Wiley V); Departments of Neurology and Pediatrics, Washington University School of Medicine, St. Louis, MO (Connolly A); Departments of Neurology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA (Kwon J); Center for Genetic & Genomic Medicine, Zhejiang University School of Medicine and James Watson Institute of Genome Sciences, Hangzhou, China (Qi M); Department of Pediatrics, University of Buffalo, Buffalo, New York, USA (Sheehan D); Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA (Ciafaloni E); University of Miami, Miami, Florida, USA (Howell RR); Buisness Manager Neonatal Screening, PerkinElmer, Turku, Finland (Furu P); Senior Direction, Field Medical Affairs, Marathon Pharmaceuticals, Northbrook, Illinois (Sazani P); Sr. Medical Director, Medical Affairs, Sarepta Therapeutics, Cambridge, Massachusetts (Narayana A); Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA (Gatheridge M) Corresponding Author: Michele Gatheridge, Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave Box 673, Rochester, NY 14642, USA (Tel: 719-333-5037; Fax: 719333-5541; Email: [email protected]) doi: 10.1007/s12519-017-0036-3 ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2017. All rights reserved.
World J Pediatr, Online First, April 2017 . www.wjpch.com
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 diffic
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