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

• Published in: World journal of pediatrics : WJP Vol. 13; no. 3; pp. 197 - 201
• Main Authors: Ke, Qing, Zhao, Zheng-Yan, Griggs, Robert, Wiley, Veronica, Connolly, Anne, Kwon, Jennifer, Qi, Ming, Sheehan, Daniel, Ciafaloni, Emma, Howell, R. Rodney, Furu, Petra, Sazani, Peter, Narayana, Arvind, Gatheridge, Michele
• Format: Journal Article
• Language: English
• Published: Hangzhou Childrens Hospital, Zhejiang University School of Medicine 01.06.2017; Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China%Department of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China%Department of Neurology , University of Rochester School of Medicine and Dentistry, Rochester, New York, USA%Disciplines of Genetic Medicine and Pediatric and Child Health, University of Sydney, Australia%Departments of Neurology and Pediatrics, Washington University School of Medicine, St.Louis, Missouri, USA%Department of Neurology , University of Rochester School of Medicine and Dentistry, Rochester, New York, USA; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA%Center for Genetic & Genomic Medicine, Zhejiang University School of Medicine and James Watson Institute of Genome Sciences, Hangzhou, China%Department of Pediatrics, University of Buffalo, Buffalo, New York, USA%University of Miami, Miami, Florida, USA%Neonatal Screening, PerkinElmer, Turku, Finland%Field Medical Affairs, Marathon Pharmaceuticals, Northbrook, Illinois, USA%Medical Affairs, Sarepta Therapeutics, Cambridge, Massachusetts, USA
• Subjects: China; Critical Care Medicine; Humans; Imaging; Infant, Newborn; Intensive; Maternal and Child Health; Medicine; Medicine & Public Health; Muscular Dystrophy, Duchenne - diagnosis; Neonatal Screening - methods; Pediatric Surgery; Pediatrics; Radiology; Review Article; Surgery; Duchene muscular dystrophy; newborn screening; neurology; neuromuscular disorders
• ISSN: 1708-8569; 1867-0687
• DOI: 10.1007/s12519-017-0036-3

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.