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Updated: May 6, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Why should a 5q spinal muscular atrophy neonatal screening program be started?
Michele Michelin Becker1, Flávia Nardes2, Tamara Dangouloff3
1Hospital de Clínicas de Porto Alegre, Unidade de Neurologia Pediátrica, Departamento de Pediatria, Porto Alegre RS, Brazil.
Insights
Newborn screening for spinal muscular atrophy (SMA) is crucial for early treatment and improved outcomes. Implementing this screening program is urgent and cost-effective for managing this genetic neuromuscular disorder.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular disorder.
- Early diagnosis and treatment significantly improve patient prognosis.
- Newborn screening for SMA is becoming increasingly available globally.
Purpose of the Study:
- To review the current status and importance of newborn screening for SMA.
- To advocate for the urgent implementation of SMA neonatal screening programs.
- To address concerns regarding the cost-effectiveness of SMA screening.
Main Methods:
- Literature review of existing studies and guidelines on SMA and newborn screening.
- Analysis of the impact of early treatment on SMA outcomes.
- Evaluation of the economic aspects of implementing SMA neonatal screening.
Main Results:
- Timely initiation of disease-modifying therapies in SMA leads to better clinical outcomes.
- Newborn screening enables earlier detection and treatment initiation.
- Well-organized screening programs are essential for maximizing benefits and managing healthcare costs.
Conclusions:
- Neonatal screening for SMA is a critical public health initiative.
- Early detection through screening is paramount for improving the lives of children with SMA.
- Implementing SMA newborn screening is cost-effective and does not necessitate increased healthcare expenditure.
Abstract:
Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future. The development of a well-organized program is paramount to achieve favorable outcomes for the child who is born with the disease and for the costs involved in health care. We herein present a review paper hoping to point out that SMA neonatal screening is urgent and will not increase the cost of its care.
