World Journal of Pediatrics

, Volume 13, Issue 3, pp 197–201 | Cite as

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
Review article



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.


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.


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.


Duchene muscular dystrophy neurology neuromuscular disorders newborn screening 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Li X, Zhao L, Zhou S, Hu C, Shi Y, Shi W, et al. A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. Orphanet J Rare Dis 2015;10:5.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev 2016;5:CD003725.Google Scholar
  3. 3.
    Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, et al. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Ann Neurol 2016;79:257–271.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012;71:304–313.CrossRefPubMedGoogle Scholar
  5. 5.
    Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F, et al. Identifying non-Duchenne muscular dystrophy-positive and false negative results in prior Duchenne muscular dystrophy newborn screening programs: a review. JAMA Neurol 2016;73:111–116.CrossRefPubMedGoogle Scholar
  6. 6.
    Ke Q, Zhang L, He C, Zhao Z, Qi M, Griggs RC, et al. China’s shift from population control to population quality: implications for neurology. Neurology 2016;87:e85–e88.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Zhong K, Wang W, He F, Wang Z. The status of neonatal screening in China, 2013. J Med Screen 2016;23:59-61.Google Scholar
  8. 8.
    Yang H, Chan K. Newborn screening and the relaxation of onechild policy in mainland China. Public Health 2015;129:1304–1306.CrossRefPubMedGoogle Scholar
  9. 9.
    Mei L, Song P, Kokudo N, Xu L, Tang W. Current situation and prospects of newborn screening and treatment for Phenylketonuria in China-compared with the current situation in the United States, UK and Japan. Intractable Rare Dis Res 2013;2:106–114.PubMedPubMedCentralGoogle Scholar
  10. 10.
    Maitusong R, Japaer R, Zhao ZY, Yang RL, Huang XL, Mao HQ. Newborn screening in Zhejiang, China. Chin Med J (Engl) 2012;125:702–704.Google Scholar
  11. 11.
    Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 2009;155:380–385.CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, et al. One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. Pediatr Neurol 2014;50:557–563.CrossRefPubMedPubMedCentralGoogle Scholar
  13. 13.
    Wong SH, McClaren BJ, Archibald AD, Weeks A, Langmaid T, Ryan MM, et al. A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. Eur J Hum Genet 2015;23:1294–1300.CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Kieny P, Chollet S, Delalande P, Le Fort M, Magot A, Pereon Y, et al. Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011. Ann Phys Rehabil Med 2013;56:443–454.CrossRefPubMedGoogle Scholar
  15. 15.
    Merlini L, Gennari M, Malaspina E, Cecconi I, Armaroli A, Gnudi S, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve 2012;45:796–802.CrossRefPubMedGoogle Scholar
  16. 16.
    Schram G, Fournier A, Leduc H, Dahdah N, Therien J, Vanasse M, et al. All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy. J Am Coll Cardiol 2013;61:948–954.CrossRefPubMedGoogle Scholar
  17. 17.
    Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, et al. Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy. J Child Neurol 2010;25:1319–1324.CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008:CD003725.Google Scholar
  19. 19.
    Moxley RT 3rd, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005;64:13–20.CrossRefPubMedGoogle Scholar
  20. 20.
    Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010;9:177–189.CrossRefPubMedGoogle Scholar
  21. 21.
    Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010;9:77–93.CrossRefPubMedGoogle Scholar
  22. 22.
    Huang X, Yang L, Tong F, Yang R, Zhao Z. Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. BMC Pediatr 2012;12:18.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, Mendell JR, Kennedy A, Kinnett K, et al. Clinical follow-up for Duchenne muscular dystrophy newborn screening: a proposal. Muscle Nerve 2016;54:186–191.CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    Chen C, Ma H, Zhang F, Chen L, Xing X, Wang S, et al. Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. PLoS One 2014;9:e108038.CrossRefPubMedPubMedCentralGoogle Scholar
  25. 25.
    Reinstein E. Challenges of using next generation sequencing in newborn screening. Genet Res (Camb) 2015;97:e21.CrossRefGoogle Scholar
  26. 26.
    Ke Q, Qi M, Wu W, Luo B, Hanna M, Herr B, et al. Rare disease centers for periodic paralysis: China versus the United States and United Kingdom. Muscle Nerve 2014;49:171–174.CrossRefPubMedGoogle Scholar
  27. 27.
    Griggs RC, Miller JP, Greenberg CR, Fehlings DL, Pestronk A, Mendell JR, et al. Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy. Neurology 2016;87:2123–2131.CrossRefPubMedPubMedCentralGoogle Scholar
  28. 28.
    Scully MA, Cwik VA, Marshall BC, Ciafaloni E, Wolff JM, Getchius TS, et al. Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology 2013;80:583–589.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM. Cystic fibrosis newborn screening: a model for neuromuscular disease screening? Ann Neurol 2015;77:189–197.CrossRefPubMedGoogle Scholar

Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Qing Ke
    • 1
  • Zheng-Yan Zhao
    • 2
  • Robert Griggs
    • 3
  • Veronica Wiley
    • 5
  • Anne Connolly
    • 6
  • Jennifer Kwon
    • 3
    • 4
  • Ming Qi
    • 7
  • Daniel Sheehan
    • 8
  • Emma Ciafaloni
    • 3
  • R. Rodney Howell
    • 9
  • Petra Furu
    • 10
  • Peter Sazani
    • 11
  • Arvind Narayana
    • 12
  • Michele Gatheridge
    • 3
    • 13
  1. 1.Department of Neurology, The First Affiliated HospitalZhejiang University School of MedicineHangzhouChina
  2. 2.Department of Child Health Care, Children’s HospitalZhejiang University School of MedicineHangzhouChina
  3. 3.Department of NeurologyUniversity of Rochester School of Medicine and DentistryRochesterUSA
  4. 4.Department of PediatricsUniversity of Rochester School of Medicine and DentistryRochesterUSA
  5. 5.Disciplines of Genetic Medicine and Pediatric and Child HealthUniversity of SydneySydneyAustralia
  6. 6.Departments of Neurology and PediatricsWashington University School of MedicineSt. LouisUSA
  7. 7.Center for Genetic & Genomic MedicineZhejiang University School of Medicine and James Watson Institute of Genome SciencesHangzhouChina
  8. 8.Department of PediatricsUniversity of BuffaloBuffaloUSA
  9. 9.University of MiamiMiamiUSA
  10. 10.Neonatal ScreeningPerkinElmerTurkuFinland
  11. 11.Field Medical AffairsMarathon PharmaceuticalsNorthbrookUSA
  12. 12.Medical AffairsSarepta TherapeuticsCambridgeUSA
  13. 13.Department of NeurologyUniversity of Rochester School of Medicine and DentistryRochesterUSA

Personalised recommendations