Why should a 5q spinal muscular atrophy neonatal screening program be started?
Почему следует начать программу неонатального скрининга спинальной мышечной атрофии 5q-типа?
2024-10-01
SCID: 54.1/wqvjxcja
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disease-modifying therapiesgenetic neuromuscular disorderhealthcare costsnewborn screeningspinal muscular atrophy
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Abstract (AI)
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.
Key Findings
1
A well-organized SMA neonatal screening program is essential for achieving favorable clinical outcomes in affected children.
2
Newborn screening enables earlier SMA diagnosis and is already implemented in many countries, with broader adoption planned.
3
Spinal muscular atrophy is a treatable genetic neuromuscular disorder, and earlier initiation of disease-modifying therapy leads to better prognosis.
4
The review argues that implementing SMA neonatal screening is urgent and should not increase overall healthcare costs.
Research Object
5q spinal muscular atrophy neonatal screening program
Research Subject
The urgency, organization, clinical outcomes, and healthcare-cost implications of initiating neonatal screening for 5q spinal muscular atrophy
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2024-10-01
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