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 Paediatric...

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Published in:Developmental medicine and child neurology 2022-07, Vol.64 (7), p.907-914
Main Authors: Weststrate, Harriet, Stimpson, Georgia, Thomas, Lily, Scoto, Mariacristina, Johnson, Emily, Stewart, Alexandra, Muntoni, Francesco, Baranello, Giovanni, Conway, Eleanor, Manzur, Adnan, Munot, Pinki, Main, Marion, Au‐Yeung, Claudia Kate
Format: Article
Language:English
Subjects:
Child
Female
Humans
Infant
Infant, Newborn
Male
Muscular Atrophy, Spinal
Oligonucleotides - therapeutic use
Original
Prospective Studies
Retrospective Studies
Spinal Muscular Atrophies of Childhood - drug therapy
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Summary: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.
ISSN:0012-1622
1469-8749
DOI:10.1111/dmcn.15171