A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States

Abstract

BackgroundWe aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. MethodsThe history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain. The first experimental pilot program for Pompe disease began in 2005 in Taiwan. In 2013, Missouri was the first US state to implement Pompe newborn screening before its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2015 by the Advisory Committee on Heritable Disorders in Newborns and Children (United States). In 2008, SMA was reviewed and rejected for inclusion in the RUSP because no treatment existed. With the approval of nusinersen in late 2016, spinal muscular atrophy is being reconsidered for the RUSP. ResultsA condition should meet public health screening criteria to be included in the RUSP. Duchenne muscular dystrophy, Pompe, and SMA challenge traditional screening criteria: Duchenne muscular dystrophy does not present in infancy and lacks effective treatment; Pompe and SMA may not present until adulthood; and safety and efficacy of long-term intrathecal treatment for SMA is unknown. Potential reproductive benefit and improved research recruitment do not justify a public health screening program. ConclusionsThis review provides lessons that could benefit US public health departments as they consider expanding screening to include neuromuscular disorders like Duchenne muscular dystrophy, Pompe, and SMA.