Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Katlyn Mcgrattan; Antonella Cerchiari; Eleanor Conway; Beatrice Berti; Richard Finkel; Francesco Muntoni; Eugenio Maria Mercuri; Lavinia Fanelli; Giorgia Coratti; Valeria Sansone; Emilio Albamonte; Federica Trucco; Sofia Latini; Enrico Bertini; Adele D'Amico; Luca Doglio; Georgia Stimpson; Giovanni Baranello; Mariacristina Scoto; Annemarie Rohwer; Lisa Edel; Robert Muni Lofra; Chiara Marini Bettolo; Sally Dunaway Young; John Day; Tina Duong; Basil Darras; Amy Pasternak; Jacqueline Montes; Ralph Rodriguez-Torres; Claudia A. Chiriboga; Michio Hirano; Matthew Civitello; Zarazuela Zolkipli Cunningham; John Brandsema; Hank Mayer; Allan Glanzmann; Joannis Karagiannis; Francesca Baldinetti; Leila Khader; Patrizia Costa; Valeria Lovato; Irene Rastelletti

doi:10.1016/j.nmd.2024.02.003

Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Katlyn Mcgrattan, Antonella Cerchiari, Eleanor Conway, Beatrice Berti, Richard Finkel, Francesco Muntoni, Eugenio Maria Mercuri, Lavinia Fanelli, Giorgia Coratti, Valeria Sansone, Emilio Albamonte, Federica Trucco, Sofia Latini, Enrico Bertini, Adele D'Amico, Luca Doglio, Georgia Stimpson, Giovanni Baranello, Mariacristina Scoto, Annemarie RohwerLisa Edel, Robert Muni Lofra, Chiara Marini Bettolo, Sally Dunaway Young, John Day, Tina Duong, Basil Darras, Amy Pasternak, Jacqueline Montes, Ralph Rodriguez-Torres, Claudia A. Chiriboga, Michio Hirano, Matthew Civitello, Zarazuela Zolkipli Cunningham, John Brandsema, Hank Mayer, Allan Glanzmann, Joannis Karagiannis, Francesca Baldinetti, Leila Khader, Patrizia Costa, Valeria Lovato, Irene Rastelletti

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	44-50
Number of pages	7
Journal	Neuromuscular Disorders
Volume	38
DOIs	https://doi.org/10.1016/j.nmd.2024.02.003
Publication status	Published - 2024

Keywords

Bulbar function

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10.1016/j.nmd.2024.02.003

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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., ... Rastelletti, I. (2024). Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy. Neuromuscular Disorders, 38, 44-50. https://doi.org/10.1016/j.nmd.2024.02.003

@article{516a151147da4e2e88ef0264bb822de9,

title = "Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy",

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.",

keywords = "Bulbar function, Bulbar function",

author = "Katlyn Mcgrattan and Antonella Cerchiari and Eleanor Conway and Beatrice Berti and Richard Finkel and Francesco Muntoni and Mercuri, {Eugenio Maria} and Lavinia Fanelli and Giorgia Coratti and Valeria Sansone and Emilio Albamonte and Federica Trucco and Sofia Latini and Enrico Bertini and Adele D'Amico and Luca Doglio and Georgia Stimpson and Giovanni Baranello and Mariacristina Scoto and Annemarie Rohwer and Lisa Edel and Lofra, {Robert Muni} and Bettolo, {Chiara Marini} and Young, {Sally Dunaway} and John Day and Tina Duong and Basil Darras and Amy Pasternak and Jacqueline Montes and Ralph Rodriguez-Torres and Chiriboga, {Claudia A.} and Michio Hirano and Matthew Civitello and Cunningham, {Zarazuela Zolkipli} and John Brandsema and Hank Mayer and Allan Glanzmann and Joannis Karagiannis and Francesca Baldinetti and Leila Khader and Patrizia Costa and Valeria Lovato and Irene Rastelletti",

year = "2024",

doi = "10.1016/j.nmd.2024.02.003",

language = "English",

volume = "38",

pages = "44--50",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

}

Mcgrattan, K, Cerchiari, A, Conway, E, Berti, B, Finkel, R, Muntoni, F, Mercuri, EM, 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, RM, Bettolo, CM, Young, SD, Day, J, Duong, T, Darras, B, Pasternak, A, Montes, J, Rodriguez-Torres, R, Chiriboga, CA, Hirano, M, Civitello, M, Cunningham, ZZ, Brandsema, J, Mayer, H, Glanzmann, A, Karagiannis, J, Baldinetti, F, Khader, L, Costa, P, Lovato, V & Rastelletti, I 2024, 'Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy', Neuromuscular Disorders, vol. 38, pp. 44-50. https://doi.org/10.1016/j.nmd.2024.02.003

TY - JOUR

T1 - Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

AU - Mcgrattan, Katlyn

AU - Cerchiari, Antonella

AU - Conway, Eleanor

AU - Berti, Beatrice

AU - Finkel, Richard

AU - Muntoni, Francesco

AU - Mercuri, Eugenio Maria

AU - Fanelli, Lavinia

AU - Coratti, Giorgia

AU - Sansone, Valeria

AU - Albamonte, Emilio

AU - Trucco, Federica

AU - Latini, Sofia

AU - Bertini, Enrico

AU - D'Amico, Adele

AU - Doglio, Luca

AU - Stimpson, Georgia

AU - Baranello, Giovanni

AU - Scoto, Mariacristina

AU - Rohwer, Annemarie

AU - Edel, Lisa

AU - Lofra, Robert Muni

AU - Bettolo, Chiara Marini

AU - Young, Sally Dunaway

AU - Day, John

AU - Duong, Tina

AU - Darras, Basil

AU - Pasternak, Amy

AU - Montes, Jacqueline

AU - Rodriguez-Torres, Ralph

AU - Chiriboga, Claudia A.

AU - Hirano, Michio

AU - Civitello, Matthew

AU - Cunningham, Zarazuela Zolkipli

AU - Brandsema, John

AU - Mayer, Hank

AU - Glanzmann, Allan

AU - Karagiannis, Joannis

AU - Baldinetti, Francesca

AU - Khader, Leila

AU - Costa, Patrizia

AU - Lovato, Valeria

AU - Rastelletti, Irene

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - Bulbar function

UR - http://hdl.handle.net/10807/280219

U2 - 10.1016/j.nmd.2024.02.003

DO - 10.1016/j.nmd.2024.02.003

M3 - Article

SN - 0960-8966

VL - 38

SP - 44

EP - 50

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -

Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

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