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. 2024;11(4):839-853.
doi: 10.3233/JND-240017.

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach

Charlotte Colot  1 , Sarah Benmechri  1 , Elke Everaert  2 , Sarah Muys  2 , Linde Van Himme  2 , Valentine Tahon  2 , Maurine Salmon  3 , Dorine Van Dyck  1 , Elke De Vos  2 , Nicolas Deconinck  1   2
Affiliations

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach

Charlotte Colot et al. J Neuromuscul Dis. 2024.

Abstract

Background: Spinal muscular atrophy (SMA), a genetic neuromuscular disease caused by lack of survival of motor neuron (SMN) protein, is characterized by muscular atrophy and respiratory and bulbar dysfunction. While swallowing disorders are common, they remain poorly studied.

Objectives: Our study aimed to explore 1) intraoral pressure measurements with the Iowa Oral Performance Instrument system and the reliability of a Swallowing Function Assessment Questionnaire (SFAQ) in healthy controls, and 2) evaluate their use as swallowing function biomarkers and the evolution of swallowing function over time in children with SMA.

Methods: We recruited 53 healthy children and 27 SMA patients all treated with SMN gene modulator therapy. Participants completed the SFAQ and underwent at least one measurement of maximal oral pressures (lingual, labial, and masseter).

Results: Mean oral normalized pressure index were lower (all sites p < 0.001) and mean SFAQ scores were higher (p < 0.001) in patients compared with healthy controls. Pressure evolution over 1 year in SMA patients for all three oral sites did not show significant differences. SFAQ scores correlated negatively with oral pressures at all three sites in patients.

Conclusions: Both tools provided new insights on the oral and pharyngeal phase of swallowing in SMA patients. In SMA patients, muscle strength in certain crucial anatomical regions during swallowing is weaker than in healthy children.

Keywords: Spinal muscular atrophy; muscular atrophy; neuromuscular disease; oral pressures; outcome measure; swallowing.

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Conflict of interest statement

ND received consulting fees in the context of advisory Board of Biogen, Roche, and Novartis Gene Therapy. He also received a research grant from Roche and Novartis Gene Therapies.

The other authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Iowa oral performance instrument (A) and boxplot representation of the maximal mean oral pressures (Pmax) as a function of age in the control group (n = 53) (B). Boxplot extremes represent the lowest and highest values of the sample. The lowest and highest part of the box represent the first and third quartiles, respectively. The crosses and bars represent the mean and median values of the samples. The age groups with only one patient are represented in the form of a “star” with 6 points.
Fig. 2
Fig. 2
Scores average obtained for the different questions of the SFAQ according to the type of SMA with standard deviation (SD) in table. SFAQ: swallowing function assessment questionnaire, SMA: spinal muscular atrophy.
Fig. 3
Fig. 3
Oral anatomical sites Pmax indexes according to SMA type (A) and treatment (B). SMA: spinal muscular atrophy. Of note, the onasemnogen abeparvovec data are not shown because only one patient received this treatment. The dashed orange line represents an index of 1.
Fig. 4
Fig. 4
Evolution of individual lingual (A), labial (B), and masseter (C) Pmax values at a 1-year interval according to SMA type (n = 17). SMA: spinal muscular atrophy.
See this image and copyright information in PMC

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