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Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
Bo Hoon Lee1, Stella Deng2, Claudia A Chiriboga2
1From the Department of Neurology (B.H.L., S.D., E.C.), University of Rochester NY; Columbia University (C.A.C., K.E., A.L.), Department of Neurology, Division of Child Neurology, New York, NY; Newborn Screening Program (D.M.K., M.C., C.A.S.-M., C.F.S.), Division of Genetics, Wadsworth Center, New York State Department of Health, Albany; Cohen Children's Medical Center (O.I., E.L., K.H.), New Hyde Park, NY; Montefiore Medical Center (L.D.), Bronx, NY; Stony Brook University (S.O.T.), Department of Neurology, Stony Brook, NY; SUNY Downstate Medical Center (Y.A.), Brooklyn, NY; SUNY Upstate Medical Center (A.S.), Department of Neurology, Syracuse, NY; Albany Medical Center (C.K.), Department of Pediatrics, Genetics and Metabolism, NY; and University of Buffalo (O.F.), NY. bohoon_lee@urmc.rochester.edu.
Newborn screening for spinal muscular atrophy (SMA) in New York identified 34 infants in 3 years. Early treatment, primarily gene replacement, led to positive outcomes, especially for those with 3 copies of the SMN2 gene.
Area of Science:
- Genetics and Genomics
- Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) screening was implemented in New York State (NYS) in October 2018, following its addition to the Recommended Uniform Screening Panel.
- The availability of new disease-modifying therapies prompted the inclusion of SMA in newborn screening protocols.
Purpose of the Study:
- To report the findings from the first three years of universal newborn screening for SMA in NYS.
- To evaluate the incidence, treatment rates, and early outcomes of infants identified through newborn screening.
Main Methods:
- Statewide newborn screening for SMA using DNA from dried blood spots and real-time quantitative PCR.
- Retrospective data collection from 9 referral centers on 34 infants identified through screening.
Main Results:
- Nearly 650,000 infants were screened, identifying 34 positive cases, a lower incidence than predicted.
- 94% of screened infants received treatment, with most (94%) undergoing gene replacement therapy.
- Infants with 3 copies of SMN2 were asymptomatic post-treatment; those with 2 copies showed variable outcomes. Electrodiagnostic studies showed improvement or stability in muscle action potential amplitude.
Conclusions:
- Early diagnosis and treatment of SMA through newborn screening lead to improved outcomes, consistent with existing reports.
- Biomarkers and electrodiagnostic studies like EMG can aid in monitoring motor neuron health and detecting preclinical decline.
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