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October 04, 2022; 99 (14) Research Article

Newborn Screening for Spinal Muscular Atrophy in New York State

Clinical Outcomes From the First 3 Years

Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
First published July 14, 2022, DOI: https://doi.org/10.1212/WNL.0000000000200986
Bo Hoon Lee
From 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.
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Stella Deng
From 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.
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Claudia A. Chiriboga
From 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.
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Denise M. Kay
From 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.
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Obehioya Irumudomon
From 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.
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Emma Laureta
From 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.
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Leslie Delfiner
From 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.
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Simona O. Treidler
From 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.
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Yaacov Anziska
From 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.
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Ai Sakonju
From 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.
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Chelsea Kois
From 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.
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Osman Farooq
From 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.
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Kristin Engelstad
From 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.
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Alexandra Laurenzano
From 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.
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Katherine Hogan
From 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.
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Michele Caggana
From 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.
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Carlos A. Saavedra-Matiz
From 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.
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Colleen F. Stevens
From 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.
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Emma Ciafaloni
From 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.
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Newborn Screening for Spinal Muscular Atrophy in New York State
Clinical Outcomes From the First 3 Years
Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
Neurology Oct 2022, 99 (14) e1527-e1537; DOI: 10.1212/WNL.0000000000200986

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Abstract

Background and Objectives Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening.

Methods Statewide neonatal screening was conducted using DNA extracted from dried blood spots using a real-time quantitative PCR assay. Retrospective follow-up data were collected from 9 referral centers across the state on 34 infants.

Results In the first 3 years since statewide implementation, nearly 650,000 infants have been screened for SMA. Thirty-four babies screened positive and were referred to a neuromuscular specialty care center. The incidence remains lower than previously predicted. The majority (94%), including all infants with 2–3 copies of survival motor neuron (SMN) 2, have received treatment. Among treated infants, the overwhelming majority (94%; 30/32) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic posttreatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data obtained from a subgroup of patients (n = 11) demonstrated either improvement or no change in compound muscle action potential (CMAP) amplitude at last clinical follow-up compared with pretreatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 days of life; range 11–180 days). Delays and barriers to treatment identified by treating clinicians followed 2 broad themes: medical and nonmedical. Medical delays most commonly reported were the presence of AAV9 antibodies and elevated troponin I levels. Nonmedical barriers included delays in obtaining insurance and insurance policies regarding specific treatment modalities.

Discussion The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including EMG can potentially be helpful in detecting preclinical decline.

Glossary

DOL=
day of life;
mRNA=
messenger RNA;
NYS=
New York State;
qPCR=
quantitative PCR;
SCC=
Specialty Care Center;
SCID=
severe combined immunodeficiency;
SMA=
spinal muscular atrophy;
SMN=
survival motor neuron;
WHO=
World Health Organization

Footnotes

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Submitted and externally peer reviewed. The handling editor was Renee Shellhaas, MD, MS.

  • Received February 3, 2022.
  • Accepted in final form June 3, 2022.
  • © 2022 American Academy of Neurology
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Hastening the Diagnosis of Amyotrophic Lateral Sclerosis

Dr. Brian Callaghan and Dr. Kellen Quigg

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Neurology | Print ISSN:0028-3878
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