Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration
Infants who receive pre-symptomatic treatment for spinal muscular atrophy typically have good swallowing outcomes, without profound impairments in biomechanics, reliance on suctioning for secretion management, and reliance on alternative nutrition care. Pharyngeal biomechanical deficits are substantially more common among those infants that receive treatment after symptom onset, and likely are associated with subclinical neural degradation at the time treatment is administered.
Authors
- Anna Miles (ORCID: https://orcid.org/0000-0003-3260-5824)
- John F. Brandsema (ORCID: https://orcid.org/0000-0001-5945-3280)
- Tina Duong (ORCID: https://orcid.org/0000-0003-3177-4722)
- Robert J. Graham (ORCID: https://orcid.org/0000-0002-8659-6313)
- Kayla Hernandez
- Sally Dunaway Young (ORCID: https://orcid.org/0000-0001-9322-0608)
- Vamshi K. Rao (ORCID: https://orcid.org/0000-0002-0130-2292)
- Deborah Salle Levy (ORCID: https://orcid.org/0000-0003-3563-2916)
- Katlyn McGrattan (ORCID: https://orcid.org/0000-0002-7853-1624)
- Miranda Clements
- Keeley Nichols
- Abigail Spoden (ORCID: https://orcid.org/0009-0003-7273-0934)
- Graham C. Schenck (ORCID: https://orcid.org/0000-0002-7172-0334)
- Alicia Hofelich Mohr (ORCID: https://orcid.org/0000-0002-7644-4105)
- Hiba Farah
- Leann Schow Smith (ORCID: https://orcid.org/0009-0002-9826-5906)
- Melanie Stevens
- Heather McGhee (ORCID: https://orcid.org/0000-0003-3996-8759)
- Julia Welc
- Diana Castro (ORCID: https://orcid.org/0000-0001-9008-0208)
- Allison C. Brown (ORCID: https://orcid.org/0000-0003-0011-0309)
- Ashley Brown (ORCID: https://orcid.org/0000-0002-2307-5916)
- Basil T. Darras (ORCID: https://orcid.org/0000-0002-1536-8145)
- Carmen Leon‐Astudillo (ORCID: https://orcid.org/0000-0003-1800-4301)
- Randal Richardson (ORCID: https://orcid.org/0000-0003-3546-9266)
- Juliet Ochura
- Jacqueline Allen (ORCID: https://orcid.org/0000-0002-3302-7045)
- Mackenzi Coker
- Peter Karachunski
- Katie Walsh
- Irena Wilson
- Morgan Elaine Turksi
Institutions
- University of North Texas (US)
- Boston Children's Hospital (US)
- Lurie Children's Hospital (US)
- University of Minnesota (US)
- Universidade Federal do Rio Grande do Sul (BR)
- Nationwide Children's Hospital (US)
- Primary Children's Hospital (US)
- Lucile Packard Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Harvard University (US)
- Medical University of South Carolina (US)
- University of Auckland (NZ)
- Hospital de Clínicas de Porto Alegre (BR)
- Gillette Children's Specialty Healthcare (US)
- Ultragenyx Pharmaceutical (United States) (US)
- University of Minnesota Medical Center (US)
- Mayo Clinic in Florida (US)
- University of Minnesota Children's Hospital (US)
- Florida College (US)
- Stanford University (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-21
- DOI
- https://doi.org/10.1186/s13023-025-04049-9
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Biogen
- Genentech