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Exploring the Trajectory of Swallowing Within Psychomotor Development in Spinal Muscular Atrophy: Moving Toward
Sofia Gandolfi1, Claudia Dosi1, Stefano Parravicini1
1Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Insights
Disease-modifying therapies improved motor function in children with Spinal Muscular Atrophy type 1 (SMA type 1) but did not significantly alter swallowing function over one year. Continued monitoring of swallowing, motor, and cognitive skills is essential for SMA type 1 management.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Spinal Muscular Atrophy type 1 (SMA type 1) is a severe genetic neuromuscular disorder characterized by profound hypotonia and progressive muscle weakness.
- Swallowing impairment (dysphagia) is a significant complication in SMA type 1, contributing to patient morbidity.
- While disease-modifying therapies (DMTs) improve survival and motor outcomes, their specific impact on swallowing function in SMA type 1 is not well understood.
Purpose of the Study:
- To longitudinally assess swallowing function in children with SMA type 1 receiving DMTs.
- To correlate swallowing function changes with motor and cognitive performance over time.
- To investigate the influence of baseline swallowing status, therapy type, and age at treatment initiation on outcomes.
Main Methods:
- A single-center, longitudinal observational study conducted from 2021 to 2025.
- Swallowing function evaluated using the Mann Assessment of Swallowing Ability (MAS), the Oropharyngeal Swallowing Assessment Tool (OrSAT), the Functionalوال吞咽量表 (FILS), and the Pediatric Functional Oral Intake Scale (p-FOIS).
- Motor function assessed with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disease (CHOP-INTEND), and cognitive function with developmental quotients (DQ)/intelligence quotients (IQ) tests.
Main Results:
- No statistically significant changes in swallowing function were observed over one year in the overall cohort or subgroups.
- Significant improvements in motor function (CHOP-INTEND) were noted within the same one-year period.
- Moderate correlations were found between swallowing scales (MAS/e, FILS, p-FOIS) and motor/cognitive scores (CHOP-INTEND, DQ/IQ).
Conclusions:
- Swallowing function in pediatric SMA type 1 patients treated with DMTs remained stable over one year.
- Motor function significantly improved irrespective of baseline swallowing status, DMT type, or age at administration.
- Standardized, longitudinal evaluation of swallowing, motor, and cognitive functions is crucial for comprehensive SMA type 1 management.
Background:
Spinal Muscular Atrophy type 1 (SMA type 1) is a genetic neuromuscular disease that typically presents before 6 months of age and is characterized by profound hypotonia, progressive muscle weakness, and early involvement of respiratory and bulbar musculature. Swallowing impairment (dysphagia) is a hallmark of SMA type 1 and significantly contributes to morbidity. Despite the documented benefits of disease-modifying therapies (DMTs) in terms of enhanced survival and motor outcomes, their impact on swallowing remains understudied.
Aim:
This study aims to longitudinally characterize swallowing function in children with SMA type 1 treated with DMTs, while contextualizing these findings in relation to the patients' current motor abilities and cognitive performance.
Materials And Methods:
A single-center, longitudinal, observational study was conducted at IRCCS Besta, Milan, Italy, from 2021 to 2025. Swallowing function was evaluated using four validated scales (MAS, OrSAT, FILS, and p-FOIS), while motor and cognitive functions were assessed using CHOP-INTEND and age-appropriate cognitive tests (DQ/IQ). Patients were stratified by baseline swallowing status, pharmacological therapy, and age at DMT administration. Non-parametric statistical tests were applied.
Results:
No statistically significant changes in swallowing function were observed over one year in the overall cohort or its subgroups, despite significant improvements in motor function. MAS/e, FILS, and p-FOIS showed moderate associations with CHOP-INTEND and DQ/IQ scores.
Conclusions:
Swallowing function in children with SMA type 1 remained largely stable, while motor function significantly improved over one year, regardless of baseline swallowing status, DMT type, and age at administration. These findings underscore the need for standardized, longitudinal assessments of swallowing, motor, and cognitive functions in the management of SMA type 1.
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