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August 2022; 12 (4) Research ArticleOpen Access

Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era

Fatima Al Amrani, Reshma Amin, Jackie Chiang, Lena Xiao, Jennifer Boyd, Eugenia Law, Elisa Nigro, Lauren Weinstock, Ana Stosic, Hernan D. Gonorazky, ; on behalf of the SickKids SMA Group
First published May 18, 2022, DOI: https://doi.org/10.1212/CPJ.0000000000001179
Fatima Al Amrani
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Reshma Amin
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Jackie Chiang
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Lena Xiao
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Jennifer Boyd
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Eugenia Law
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Elisa Nigro
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Lauren Weinstock
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Ana Stosic
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Hernan D. Gonorazky
Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Department of Pediatrics (FAA, JB, EL, EN-P, HDG), Division of Neurology, Hospital for Sick Children, University of Toronto; Department of Pediatrics (RA, JC, LX), Division of Respiratory Medicine, Hospital for Sick Children, University of Toronto; Department of Rehabilitation Services (LW), Hospital for Sick Children, University of Toronto; and Genetics and Genome Biology Program (AS), PGCRL, University of Toronto, Canada.
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Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
Fatima Al Amrani, Reshma Amin, Jackie Chiang, Lena Xiao, Jennifer Boyd, Eugenia Law, Elisa Nigro, Lauren Weinstock, Ana Stosic, Hernan D. Gonorazky
Neurol Clin Pract Aug 2022, 12 (4) 279-287; DOI: 10.1212/CPJ.0000000000001179

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Abstract

Background and Objectives The introduction of spinal muscular dystrophy (SMA)-modifying therapies, such as antisense oligonucleotide therapy, has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and respiratory function. The objective of this study is to document the development and progression of scoliosis in patients with SMA1 treated with nusinersen.

Methods A descriptive single-center study was conducted in patients with SMA1 who were treated with nusinersen before 6 months of age. Data were collected on patients who met criteria, including age at the first nusinersen dose, number of nusinersen doses, degree of scoliosis, respiratory parameters, feeding route, and motor scores at baseline and follow-up. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) was subanalyzed using axial (AxS) and appendicular motor (ApS) scores to evaluate a possible correlation between scoliosis and axial muscle strength.

Results From our cohort, 31 percent (11/35) of patients had a diagnosis of SMA1. Sixty-three percent (7/11) met the inclusion criteria. All patients (7/7) showed initial improvement in their CHOP-INTEND scores in correlation with improvement on the ApS. Despite this, most patients did not show improvement in the AxS. Subsequently, all patients developed scoliosis in the first year of life with Cobb angles that ranged between 18° and 60°. Furthermore, total CHOP-INTEND scores had dropped in 2 patients alongside the development of a Cobb angle of >40°.

Discussion Despite the significant improvement in functional motor assessment in patients with SMA1, there is a progression of significant scoliosis despite treatment. Subsequently, lack or minimal improvement on the axial CHOP-INTEND scores may predict worsening on the total motor scores.

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

  • The Article Processing Charge was funded by the authors.

  • Coinvestigators are listed in Appendix 2.

  • Submitted and externally peer reviewed. The handling editors were Richard Barbano, MD, PhD, FAAN, and Belinda A. Savage-Edwards, MD.

  • Received August 20, 2021.
  • Accepted April 11, 2022.
  • Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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