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

Mei Baker, Robert Griggs, Barry Byrne, Anne M. Connolly, Richard Finkel, Lucja Grajkowska, Amanda Haidet-Phillips, Laura Hagerty, Robert Ostrander, Lianna Orlando, Kathryn Swoboda, Michael Watson, R. Rodney Howell

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)978-983
Number of pages6
JournalJAMA Neurology
Volume76
Issue number8
DOIs
StatePublished - Aug 2019

ASJC Scopus subject areas

  • Clinical Neurology

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