Progressive bulbar involvement is frequent in spinal muscular atrophy, with prevalence and severity of deficits associated with type. The report provides an overview of the presentations made at the workshop grouped into 4 sessions: the first section was dedicated to videofluoroscopy with a revision of the existing protocols and discussion on which one should be used in routine clinical practice and in research settings. The second session was dedicated to interprofessional routine assessments of bulbar function, with a review of the recent clinical tools specifically developed for SMA. The third section was focused on the assessments performed by speech and language therapists/pathologists in the new SMA phenotypes. The last section focused on how the new therapies have changed the approach in rehabilitation for bulbar dysfunction. Finally, we present the consensus that was achieved on these aspects and possible action points from these.
Mcgrattan, K., Cerchiari, A., Conway, E., Berti, B., Finkel, R., Muntoni, F., Mercuri, E. M., Fanelli, L., Coratti, G., Sansone, V., Albamonte, E., Trucco, F., Latini, S., Bertini, E., D'Amico, A., Doglio, L., Stimpson, G., Baranello, G., Scoto, M., Rohwer, A., Edel, L., Lofra, R. M., Bettolo, C. M., Young, S. D., Day, J., Duong, T., Darras, B., Pasternak, A., Montes, J., Rodriguez-Torres, R., Chiriboga, C. A., Hirano, M., Civitello, M., Cunningham, Z. Z., Brandsema, J., Mayer, H., Glanzmann, A., Karagiannis, J., Baldinetti, F., Khader, L., Costa, P., Lovato, V., Rastelletti, I., Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy, <<NEUROMUSCULAR DISORDERS>>, 2024; 38 (N/A): 44-50. [doi:10.1016/j.nmd.2024.02.003] [https://hdl.handle.net/10807/280219]
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
Mercuri, Eugenio Maria;Fanelli, Lavinia;Coratti, Giorgia;
2024
Abstract
Progressive bulbar involvement is frequent in spinal muscular atrophy, with prevalence and severity of deficits associated with type. The report provides an overview of the presentations made at the workshop grouped into 4 sessions: the first section was dedicated to videofluoroscopy with a revision of the existing protocols and discussion on which one should be used in routine clinical practice and in research settings. The second session was dedicated to interprofessional routine assessments of bulbar function, with a review of the recent clinical tools specifically developed for SMA. The third section was focused on the assessments performed by speech and language therapists/pathologists in the new SMA phenotypes. The last section focused on how the new therapies have changed the approach in rehabilitation for bulbar dysfunction. Finally, we present the consensus that was achieved on these aspects and possible action points from these.
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