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Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen

AIM: To assess the evolution of bulbar function in nusinersen‐treated spinal muscular atrophy type 1 (SMA1). METHOD: This single‐centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 and 2020. We adapted and validated the Paediatr...

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Autores principales: Weststrate, Harriet, Stimpson, Georgia, Thomas, Lily, Scoto, Mariacristina, Johnson, Emily, Stewart, Alexandra, Muntoni, Francesco, Baranello, Giovanni, Conway, Eleanor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306995/
https://www.ncbi.nlm.nih.gov/pubmed/35103306
http://dx.doi.org/10.1111/dmcn.15171
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author Weststrate, Harriet
Stimpson, Georgia
Thomas, Lily
Scoto, Mariacristina
Johnson, Emily
Stewart, Alexandra
Muntoni, Francesco
Baranello, Giovanni
Conway, Eleanor
author_facet Weststrate, Harriet
Stimpson, Georgia
Thomas, Lily
Scoto, Mariacristina
Johnson, Emily
Stewart, Alexandra
Muntoni, Francesco
Baranello, Giovanni
Conway, Eleanor
author_sort Weststrate, Harriet
collection PubMed
description AIM: To assess the evolution of bulbar function in nusinersen‐treated spinal muscular atrophy type 1 (SMA1). METHOD: This single‐centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 and 2020. We adapted and validated the Paediatric Functional Oral Intake Scale (p‐FOIS), which is an outcome measure to assess bulbar function. Analysis considered SMA1 subtype, nutritional support, and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and p‐FOIS scores at initiation of nusinersen treatment (baseline) and at 6, 12, and 24 months after initiation. RESULTS: The median age at baseline was 11 months (range 1 month–7 years 6 months). Median age at initiation of tube feeding was 8 months (range 0–2 years 2 months). Fourteen patients were tube fed at baseline. The median p‐FOIS score was 3 at baseline and 2 at 12 and 24 months. Four patients, all with type 1c SMA, remained orally fed at 24 months. Median CHOP INTEND scores increased from 32 at baseline to 42 at 12 and 24 months. INTERPRETATION: Impaired bulbar function persisted as a significant complication in most nusinersen‐treated patients with SMA1, in contrast to the improvement in motor abilities demonstrated in the majority. p‐FOIS allows for tracking of bulbar function progression and treatment response. Larger, prospective studies investigating the longer‐term impacts of nusinersen on bulbar function are warranted.
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spelling pubmed-93069952022-07-28 Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen Weststrate, Harriet Stimpson, Georgia Thomas, Lily Scoto, Mariacristina Johnson, Emily Stewart, Alexandra Muntoni, Francesco Baranello, Giovanni Conway, Eleanor Dev Med Child Neurol Original Articles AIM: To assess the evolution of bulbar function in nusinersen‐treated spinal muscular atrophy type 1 (SMA1). METHOD: This single‐centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 and 2020. We adapted and validated the Paediatric Functional Oral Intake Scale (p‐FOIS), which is an outcome measure to assess bulbar function. Analysis considered SMA1 subtype, nutritional support, and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and p‐FOIS scores at initiation of nusinersen treatment (baseline) and at 6, 12, and 24 months after initiation. RESULTS: The median age at baseline was 11 months (range 1 month–7 years 6 months). Median age at initiation of tube feeding was 8 months (range 0–2 years 2 months). Fourteen patients were tube fed at baseline. The median p‐FOIS score was 3 at baseline and 2 at 12 and 24 months. Four patients, all with type 1c SMA, remained orally fed at 24 months. Median CHOP INTEND scores increased from 32 at baseline to 42 at 12 and 24 months. INTERPRETATION: Impaired bulbar function persisted as a significant complication in most nusinersen‐treated patients with SMA1, in contrast to the improvement in motor abilities demonstrated in the majority. p‐FOIS allows for tracking of bulbar function progression and treatment response. Larger, prospective studies investigating the longer‐term impacts of nusinersen on bulbar function are warranted. John Wiley and Sons Inc. 2022-02-01 2022-07 /pmc/articles/PMC9306995/ /pubmed/35103306 http://dx.doi.org/10.1111/dmcn.15171 Text en © 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Weststrate, Harriet
Stimpson, Georgia
Thomas, Lily
Scoto, Mariacristina
Johnson, Emily
Stewart, Alexandra
Muntoni, Francesco
Baranello, Giovanni
Conway, Eleanor
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
title Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
title_full Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
title_fullStr Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
title_full_unstemmed Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
title_short Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
title_sort evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306995/
https://www.ncbi.nlm.nih.gov/pubmed/35103306
http://dx.doi.org/10.1111/dmcn.15171
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