What question did this study set out to answer?

This research evaluates the impact of early treatment in newborns diagnosed with spinal muscular atrophy (SMA).

March 12, 2026International Journal of Neonatal ScreeningOpen Access

Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy

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Key result

Pre-symptomatic SMA treatment is linked to improved motor outcomes, with ~75% walking independently.

Why the study?

Disease-modifying therapies for spinal muscular atrophy provide significant benefits, making newborn screening essential for timely diagnosis and treatment initiation.

Does newborn screening and pre-symptomatic treatment improve motor function development in infants with spinal muscular atrophy?

Population

62,801 infants born between April 2023 and October 2024 in the Campania region, Italy

Design

Newborn screening programme evaluation

Follow-up

24 months

Authors

IBIlaria BitettiSantobono Children's Hospital RIRosa IannacconeSantobono Children's Hospital GMGiovanna MargiottaSantobono Children's Hospital

Discussion

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Implication

Supports newborn SMA screening to enable pre-symptomatic therapy; extends trial evidence to real-world cohorts.

Key Points

This research evaluates the impact of early treatment in newborns diagnosed with spinal muscular atrophy (SMA).
Screened 62,801 infants for SMA in Italy using newborn screening (NBS)
Used RT-PCR to detect homozygous deletion of SMN1 gene and assessed SMN2 copy number
Monitored motor functions post-treatment using CHOP-INTEND and Bayley III scales
Thirteen infants tested positive for SMA, with varying SMN2 copy numbers
One year after treatment, one patient walked independently and three stood with support
At 24 months, three patients achieved independent walking, demonstrating significant motor development improvements

Structured PICO

Does newborn screening and pre-symptomatic treatment improve motor function development in infants with spinal muscular atrophy?

Population

62,801 infants born between April 2023 and October 2024 in the Campania region, Italy, screened for spinal muscular atrophy (SMA), of which 13 tested positive (11 females, 2 males).

Intervention

Newborn screening (NBS) for SMA and subsequent pre-symptomatic disease-modifying therapy.

Outcome

Motor function development assessed using CHOP-INTEND and Bayley III scales.

Pre-symptomatic treatment following newborn screening for spinal muscular atrophy markedly improves motor function development, supporting the need for large-scale screening programs.

Cite This Study

Bitetti et al. (2026) studied this question. Pre-symptomatic treatment in SMA patients significantly improved motor outcomes, with three of four achieving independent walking by 24 months post-treatment.

synapsesocial.com/papers/69b2587296eeacc4fcec8243 https://doi.org/10.3390/ijns12010016

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Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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