January 1, 2022

Spinal muscular atrophy (SMA) was added to the U.S. Recommended Uniform Screening Panel (RUSP) in 2018. This study, published in the International Journal of Neonatal Screening, examined the 34 fully implemented spinal muscular atrophy (SMA) newborn screening (NBS) programs in the U.S. and several programs on the path to implementation as of June 2021.  Data were gathered on the...

This retrospective study, published in the Journal of Neurodevelopmental Disorders, analyzed cognitive function, language comprehension, speech, and motor function in pediatric patients with spinal muscular atrophy type 1 (SMA1). The goal of the study was to develop cognitive and language benchmarks that could be used in clinical medication trials for different SMA1 subtypes.  The researchers identified 22...

This study, published in Frontiers in Neurology, investigated the relationship between motor functioning and neck and trunk muscle strength in patients with spinal muscular atrophy (SMA). The researchers sought to measure the strength of neck and trunk muscles in patients with different types of SMA, compare them to values for healthy children, and assess the reliability...

Spinal muscular atrophy (SMA) can result in neonatal morbidity and mortality. As a result, it is important to screen women during or before pregnancy for carrier status of SMA. This literature review, published in Obstetrical & Gynecological Survey, reviews the different types of SMA and their inheritance and guides obstetric providers in interpreting carrier screening results....