Disparities in newborn screenings leave some children undiagnosed for rare disorders

Variations in newborn screening tests between states leave some children undiagnosed and untreated for rare conditions that require early intervention, according to Bloomberg.com.

A prime example is SMA type 1, a severe form of spinal muscular atrophy. SMA treatment must begin in the first weeks or months of a child's life before irreversible symptoms set in. Public health officials say about 1 in 300 children have a condition like SMA that could be detected in early screening, but only seven states currently test for it.

The U.S. Department of Health and Human Services' Recommended Uniform Screening Panel recommends about 60 disorders to include in newborn screenings, including SMA. It's ultimately up to each state, however, to decide which disorders it will screen. 

States consider factors such as how common the disorder is, treatment availability and cost of screening. Some require testing for all 60 disorders on the RUSP list; others test far fewer.

 

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