The Journal of Pediatrics
Volume 155, Issue 3 , Pages 380-385 , September 2009

Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

  • Emma Ciafaloni, MD

      Affiliations

    • Department of Neurology, University of Rochester, Rochester, NY
    • Corresponding Author InformationReprint requests: Dr Emma Ciafaloni, University of Rochester, 601 Elmwood Avenue, PO Box 673, Rochester, NY 14642.
    • ,
  • Deborah J. Fox, MPH

      Affiliations

    • New York State Department of Health, Troy, NY
    • ,
  • Shree Pandya, PT, MS

      Affiliations

    • Department of Neurology, University of Rochester, Rochester, NY
    • ,
  • Christina P. Westfield, RN, BSN

      Affiliations

    • New York State Department of Health, Troy, NY
    • ,
  • Soman Puzhankara, MS

      Affiliations

    • Department of Epidemiology, University of Iowa, College of Public Health, Iowa City, IA
    • ,
  • Paul A. Romitti, PhD

      Affiliations

    • Department of Epidemiology, University of Iowa, College of Public Health, Iowa City, IA
    • ,
  • Katherine D. Mathews, MD

      Affiliations

    • Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA
    • ,
  • Timothy M. Miller, MD

      Affiliations

    • The Departments of Pediatrics and Neurology and the Steele Children's Research Center, University of Arizona College of Medicine, Tucson, AZ
    • ,
  • Dennis J. Matthews, MD

      Affiliations

    • Department of Physical Medicine and Rehabilitation, University of Colorado School of Medicine, The Children's Hospital, Denver, CO
    • ,
  • Lisa A. Miller, MD, MSPH

      Affiliations

    • Colorado Department of Public Health and Environment, Denver, CO
    • ,
  • Christopher Cunniff, MD

      Affiliations

    • The Departments of Pediatrics and Neurology and the Steele Children's Research Center, University of Arizona College of Medicine, Tucson, AZ
    • ,
  • Charlotte M. Druschel, MD, MPH

      Affiliations

    • New York State Department of Health, Troy, NY
    • ,
  • Richard T. Moxley, MD

      Affiliations

    • Department of Neurology, University of Rochester, Rochester, NY

Received 29 October 2008 ,Revised 23 December 2008 ,Accepted 3 February 2009.

References 

  1. Emery AE. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord. 1991;1:19–29
  2. Emery AE. Duchenne Muscular Dystrophy. 2nd edition. New York: Oxford University Press; 1987;
  3. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50:509–517
  4. Dubowitz V. Muscular dystrophies. In: Muscle Disorders in Childhood. 2nd edition. Philadelphia: WB Saunders; 1995;
  5. Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley RT, Miller JP, et al. Clinical investigation of Duchenne muscular dystrophy: interesting results in a trial of prednisone. Arch Neurol. 1987;44:812–817
  6. Mendell JR, Moxley RT, Griggs RC, Brooke MH, Fenichel GM, Miller JP, et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med. 1989;320:1592–1597
  7. Griggs RC, Moxley RT, Mendell JR, Fenichel GM, Brooke MH, Pestronk A, et al. Prednisone in Duchenne dystrophy: a randomized, controlled trial defining the time course and dose response: Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol. 1991;48:383–388
  8. Fenichel GM, Florence JM, Pestronk A, Mendell JR, Moxley RT, Griggs RC, et al. Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology. 1991;41:1874–1877
  9. Fenichel GM, Mendell JR, Moxley RT, Griggs RC, Brooke MH, Miller JP, et al. A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy. Arch Neurol. 1991;48:575–579
  10. Cyrulnik SE, Fee RJ, De Vivo DC, Goldstein E, Hinton VJ. Delayed developmental language milestones in children with Duchenne's muscular dystrophy. J Pediatr. 2007;150:474–478
  11. Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet. 2003;72:931–939
  12. Crisp DE, Ziter FA, Bray PF. Diagnostic delay in Duchenne's muscular dystrophy. JAMA. 1982;247:478–480
  13. Green JM, Murton FE. Diagnosis of Duchenne muscular dystrophy: parents' experiences and satisfaction. Child Care Health Dev. 1996;22:113–128
  14. Parsons EP, Clarke AJ, Bradley DM. Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection. Eur J Paediatr Neurol. 2004;8:145–153
  15. O'Brien T, Sibert JR, Harper PS. Implications of diagnostic delay in Duchenne muscular dystrophy. Br Med J (Clin Res Ed). 1983;287:1106–1107
  16. Bushby KM, Hill A, Steele JG. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy. Lancet. 1999;353:557–558
  17. Zalaudek I, Bonelli RM, Koltringer P, Reisecker F, Wagner K. Early diagnosis in Duchenne muscular dystrophy. Lancet. 1999;353:1975
  18. Mohamed K, Appleton R, Nicolaides P. Delayed diagnosis of Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2000;4:219–223
  19. Smith RA, Sibert JR, Wallace SJ, Harper PS. Early diagnosis and secondary prevention of Duchenne muscular dystrophy. Arch Dis Child. 1989;64:787–790
  20. Marshall PD, Galasko CS. No improvement in delay in diagnosis of Duchenne muscular dystrophy. Lancet. 1995;345:590–591
  21. Miller LA, Romitti PA, Cunniff C, Druschel C, Mathews KD, Meaney FJ, et al. The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Res A Clin Mol Teratol. 2006;76:793–797
  22. Kemper AR, Wake MA. Duchenne muscular dystrophy: issues in expanding newborn screening. Curr Opin Pediatr. 2007;19:700–704
  23. Ross LF. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet A. 2006;140:914–922
  24. Acharya K, Ackerman PD, Ross LF. Pediatricians' attitudes toward expanding newborn screening. Pediatrics. 2005;116:e476–e484
  25. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60:367–380

 Supported by the Centers for Disease Control and Prevention Cooperative Agreement (5U01DD000187). The authors declare no conflicts of interest.

PII: S0022-3476(09)00118-8

doi: 10.1016/j.jpeds.2009.02.007

The Journal of Pediatrics
Volume 155, Issue 3 , Pages 380-385 , September 2009

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