New published article: Colot et al., 2024

Congratulations to Dr. Colot, Prof. Deconinck, and their collaborators on the publication of their article on swallowing assessment in children with spinal muscular atrophy (SMA) in the Journal of Neuromuscular Diseases. We are delighted to have contributed to the success of this article!

SMA is a 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫 caused by 𝑆𝑀𝑁1 gene mutations, which encodes the survival of motor neuron (SMN) protein. SMA is typically characterized by muscular atrophy, respiratory and bulbar dysfunctions, and in particular 𝐬𝐰𝐚𝐥𝐥𝐨𝐰𝐢𝐧𝐠 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬. The latter are common but little studied. This study evaluated the measurement of 𝐢𝐧𝐭𝐫𝐚𝐨𝐫𝐚𝐥 𝐩𝐫𝐞𝐬𝐬𝐮𝐫𝐞𝐬 and the reliability of the Swallowing Function Assessment Questionnaire (𝐒𝐅𝐀𝐐) in healthy subjects, as well as the usefulness of these two tools as 𝐛𝐢𝐨𝐦𝐚𝐫𝐤𝐞𝐫𝐬 𝐢𝐧 𝐒𝐌𝐀 𝐜𝐡𝐢𝐥𝐝𝐫𝐞𝐧.

A total of 53 healthy children and 27 SMA children were included. They completed the SFAQ and lingual, labial, and masseter pressures were measured. Mean 𝐨𝐫𝐚𝐥 𝐩𝐫𝐞𝐬𝐬𝐮𝐫𝐞𝐬 were significantly 𝐥𝐨𝐰𝐞𝐫 𝐢𝐧 𝐩𝐚𝐭𝐢𝐞𝐧𝐭𝐬, while 𝐒𝐅𝐀𝐐 𝐬𝐜𝐨𝐫𝐞𝐬 were 𝐬𝐢𝐠𝐧𝐢𝐟𝐢𝐜𝐚𝐧𝐭𝐥𝐲 𝐡𝐢𝐠𝐡𝐞𝐫 compared with healthy subjects. Furthermore, oral pressures 𝐜𝐨𝐫𝐫𝐞𝐥𝐚𝐭𝐞𝐝 𝐧𝐞𝐠𝐚𝐭𝐢𝐯𝐞𝐥𝐲 with SFAQ scores in patients.

This study will contribute to the 𝐢𝐦𝐩𝐫𝐨𝐯𝐞𝐦𝐞𝐧𝐭 𝐨𝐟 𝐬𝐰𝐚𝐥𝐥𝐨𝐰𝐢𝐧𝐠 𝐚𝐬𝐬𝐞𝐬𝐬𝐦𝐞𝐧𝐭 𝐢𝐧 𝐒𝐌𝐀 𝐜𝐡𝐢𝐥𝐝𝐫𝐞𝐧, with possible use in routine clinical use. These results need to be confirmed with a larger patient sample, but will undoubtedly help to improve the 𝐪𝐮𝐚𝐥𝐢𝐭𝐲 𝐨𝐟 𝐥𝐢𝐟𝐞 of SMA children. The article is already available on the journal's website! 𝐃𝐎𝐈: 𝟏𝟎.𝟑𝟐𝟑𝟑/𝐉𝐍𝐃-𝟐𝟒𝟎𝟎𝟏𝟕