Our results suggest that NBS for LSDs is much more likely to detect individuals at risk for late-onset disease, similar to results from other NBS programs. This work has demonstrated the feasibility of using a novel consented pilot NBS study design that can be modified to include other disorders under consideration for public health implementation as a means to gather critical evidence for evidence-based NBS practices.

The majority of pediatric trauma patients transported by helicopter in our study sustained minor injuries. A revised policy to better identify pediatric patients who might benefit from helicopter transport appears to be warranted.