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Special Communication
May 20, 2019

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps

Author Affiliations
  • 1University of Wisconsin School of Medicine, Madison
  • 2University of Rochester School of Medicine, Rochester, New York
  • 3University of Florida, Gainesville
  • 4Washington University School of Medicine in St Louis, St Louis, Missouri
  • 5Nemours Children’s Hospital, Orlando, Florida
  • 6Muscular Dystrophy Association, New York, New York
  • 7State University of New York Upstate Medical University, Rushville
  • 8Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts
  • 9American College of Medical Genetics and Genomics, Bethesda, Maryland
  • 10University of Miami Miller School of Medicine, Miami, Florida
JAMA Neurol. Published online May 20, 2019. doi:10.1001/jamaneurol.2019.1206
Abstract

Importance  Newborn screening (NBS) identifies infants with specific congenital disorders for which earlier intervention cannot only prevent a lifetime of chronic disability but also, most importantly, save lives. In this article, we discuss complexities associated with NBS processes in the United States, with a focus on challenges in neuromuscular disorders.

Observations  As new interventions for neuromuscular disorders become available, the clinical community must prepare to overcome the challenges of adding new diseases to screening panels and understand the rigorous evidence review at the federal level and the complex process of state-level implementation. In this regard, NBS programs for Pompe disease and spinal muscular atrophy can guide the path of Duchenne muscular dystrophy and other neuromuscular disorders as future candidates for NBS.

Conclusions and Relevance  The availability of advanced screening methods, the emergence of effective treatment, and the support of professional organizations may facilitate the expansion of NBS, such that an increasing number of infants can be identified in the newborn period who will benefit from life-saving interventions.

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