TY - JOUR
T1 - Newborn screening for Duchenne muscular dystrophy in China
T2 - follow-up diagnosis and subsequent treatment
AU - Ke, Qing
AU - Zhao, Zheng Yan
AU - Griggs, Robert
AU - Wiley, Veronica
AU - Connolly, Anne
AU - Kwon, Jennifer
AU - Qi, Ming
AU - Sheehan, Daniel
AU - Ciafaloni, Emma
AU - Howell, R. Rodney
AU - Furu, Petra
AU - Sazani, Peter
AU - Narayana, Arvind
AU - Gatheridge, Michele
N1 - Publisher Copyright:
© 2017, Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg.
PY - 2017/6/1
Y1 - 2017/6/1
N2 - 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.
AB - 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.
KW - Duchene muscular dystrophy
KW - neurology
KW - neuromuscular disorders
KW - newborn screening
UR - http://www.scopus.com/inward/record.url?scp=85018392251&partnerID=8YFLogxK
U2 - 10.1007/s12519-017-0036-3
DO - 10.1007/s12519-017-0036-3
M3 - Review article
C2 - 28466241
AN - SCOPUS:85018392251
SN - 1708-8569
VL - 13
SP - 197
EP - 201
JO - World Journal of Pediatrics
JF - World Journal of Pediatrics
IS - 3
ER -