2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Newborn Screening for Spinal Muscular Atrophy in South Florida: The Clinical Experience

Newborn Screening for Spinal Muscular Atrophy in South Florida: The Clinical Experience
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This document summarizes a study on newborn screening (NBS) for Spinal Muscular Atrophy (SMA) in South Florida. The study assessed the population demographics, methods used, and the results obtained. The researchers analyzed the data collected from patients with SMA, including their demographics, clinical course, SMA type, and barriers to treatment. They also ran correlation analyses among parameters of interest, including time from diagnosis to therapy, NBS status, and clinical outcomes. The study found that NBS identification correlated with earlier treatment intervention and improved clinical outcomes in patients with SMA types 1 and 2. There were significant negative correlations between time to treatment and clinical status in non-NBS patients. The results demonstrated that children diagnosed by NBS had more favorable clinical outcomes due to rapid therapeutic intervention. The study also identified barriers to treatment, including insurance and administrative issues. The researchers concluded that NBS diagnosis and early intervention lead to improved prognoses for patients with SMA. They suggested further research to update data with new patients and evaluate long-term clinical outcomes in pre- and post-NBS cohorts. They also recommended collecting statewide NBS data and assessing how age at the time of treatment initiation impacts outcomes. Overall, this study provides valuable insights into the clinical experience of NBS for SMA in South Florida and highlights the benefits of early intervention in improving outcomes for patients with SMA.

Asset Subtitle

Presenting Author - Sofia Zoullas, AB; Co-Author - Deborah S. Barbouth; Co-Author - Roberto F. Lopez-Alberola, MD;

Meta Tag

Brain/Nervous System

Databases

Genetic Testing

Musculoskeletal system

Neuroscience

Pathogenesis

Phenotype

Therapy

Co-Author Deborah S. Barbouth

Co-Author Roberto F. Lopez-Alberola, MD

Presenting Author Sofia Zoullas, AB

Keywords

newborn screening

Spinal Muscular Atrophy

SMA

South Florida

clinical outcomes

treatment intervention

barriers to treatment

NBS diagnosis

early intervention

prognoses