Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

McGrattan, Katlyn; Graham, Robert J.; DiDonato, Christine J.; Darras, Basil T.

doi:10.1044/2021_ajslp-20-00217

Cited by 22 publications

(30 citation statements)

References 63 publications

(177 reference statements)

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“…No relevant improvement in bulbar function was found in adult SMA type 2 and 3 patients under nusinersen treatment for up to 14 months. Subgroup analyses from SMA type 2 and 3 patients revealed no differences in treatment response, which goes in line with findings from another study indicating that the best predictor of dysphagia is the individual’s current level of motor function instead of SMA type [ 23 ]. Bulbar function has never been investigated in a larger-sample study in adult SMA patients under nusinersen.…”

Section: Discussionsupporting

confidence: 86%

“…Reliable data on the natural history of bulbar function in SMA, especially regarding adult patients, are not available to a similar extent, which is why a comparison between the course of bulbar dysfunction in our sample and the natural disease course in untreated patients can only be drawn based on the following assumptions. The chronic progressive decline in extremity function in adult patients and bulbar dysfunction progression in SMA type 1 patients, who regularly undergo a switch from oral to alternative feeding forms during the natural disease course, imply a natural progressive course of bulbar dysfunction in adult SMA patients [ 23 ], which strengthens the assumption of a therapeutic effect of nusinersen on bulbar function in adult SMA patients, as evidenced by the absence of a further decline in bulbar scores. Recently, summarized data from the few existing studies investigating dysphagia outcomes under disease-modifying therapies in SMA corresponded to a total of seven studies, which mostly only referred to SMA type 1 patients and were performed with small sample sizes and heterogeneous outcome measures [ 23 ].…”

Section: Discussionmentioning

confidence: 90%

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Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Brakemeier¹,

Stolte²,

Thimm³

et al. 2021

Brain Sciences

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The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and validated measurement instruments to assess it have not yet been established. Data on whether and how bulbar function changes under gene-based therapies in adult SMA patients are also unavailable. Here, we present data on the course of bulbar dysfunction assessed prospectively before nusinersen treatment initiation and 6 and 14 months later in 23 adult SMA patients using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R). While no improvement in bulbar scores was observed under treatment with nusinersen, the absence of a decline still implies a therapeutic effect of nusinersen on bulbar dysfunction. The results of this study aim to contribute to a standardized assessment of bulbar function in adult SMA patients, which may show therapeutic effects of gene-based therapies that are not evident from standard motor scores.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 90%

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Brakemeier¹,

Stolte²,

Thimm³

et al. 2021

Brain Sciences

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“…Dysphagia is a serious symptom in children with type 1 spinal muscular atrophy (SMA) [ 1 – 3 ] and is likely to affect all children at an early age if left untreated [ 2 – 4 ]. SMA is a rare autosomal recessive neurodegenerative disease affecting approximately one in 10 000 live births [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

Zang

Johannsen

Denecke

et al. 2022

Eur Arch Otorhinolaryngol

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Purpose This study aimed to report on implementing flexible endoscopic evaluation of swallowing (FEES) in infants and toddlers with type 1 spinal muscular atrophy (SMA). In addition, a comparison of FEES results and clinical scores was carried out. Methods A prospective pilot study was conducted including ten symptomatic children with SMA type 1 (two SMN2 copies). They started treatment with one of the three currently approved therapies for SMA at a median age of 3.8 months (range 0.7–8.9). FEES was performed according to a standard protocol using Penetration–Aspiration Scale (PAS) and Murray Secretion Scale as a primary outcome. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) for motor function, Neuromuscular Disease Swallowing Status Scale (NdSSS), Oral and Swallowing Abilities Tool (OrSAT), and single clinical swallowing-related parameters were also assessed. Results Distinct swallowing disorders were already evident in eight children at inclusion. The most common findings from FEES were pharyngeal secretion pooling, penetration, and aspiration of saliva and food as well as delayed initiation of swallowing. Despite an average increase in motor function, no comparable improvement was found in swallowing function. None of the surveyed clinical scores showed a significant dependence on PAS in a mixed linear model. Conclusions Valuable information regarding the status of dysphagia can be gathered endoscopically, particularly concerning secretion management and when oral intake is limited. Currently available clinical tools for children with type 1 may represent a change in nutritional status but are not yet mature enough to conclude swallowing ability. Further development is still required.

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“…Almost all the clinical studies were observational studies and about one fifth included healthy controls. Standards of care and comprehensive overviews that contain descriptions of feeding, swallowing, saliva control and speech in NMDs were also mentioned for NMD as a group [12][13][14], SMA [29][30][31][32], JMG [41], CM [51], CMD [54], DMD [66,67], PD [87] and DM1 [92].…”

Section: Discussionmentioning

confidence: 99%

“…In "Diagnosis and management of spinal muscular atrophy: Part 1" (2018), the consensus recommendations for nutrition, swallowing and gastrointestinal management are updated [30]. There are also literature reviews regarding feeding and swallowing in SMA [31,32].…”

Section: Spinal Muscular Atrophy (Sma)mentioning

confidence: 99%

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021

Sjögreen

Lisa

2022

JND

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Background: The knowledge about the impact of oral motor impairment in neuromuscular diseases (NMDs) is limited but increasing. Objective: The aim of this review was to collect and compile knowledge on how muscle weakness in congenital or early developing NMDs directly or indirectly affects feeding, swallowing, speech and saliva control. Methods: A literature search was performed in PubMed from January 1, 1998, to August 31, 2021. The keywords “feeding”, “dysphagia”, “swallowing”, “dysarthria”, “speech”, “drooling” and “sialorrhea” were used in combination with “paediatric neuromuscular disease” or specific diagnoses. Results: Sixty-five studies were selected for the review, 33 focused on feeding and swallowing, 11 on speech, four on a combination of feeding, swallowing, saliva control or speech and 17 general descriptions. Most of the studies reported on patients with a disorder affecting muscles. These studies show that muscle weakness and impaired motility affecting the muscles innervated by the cranial nerves may influence feeding, swallowing, and speech, and that respiratory function, general health and neurodevelopmental delay also influence these functions. Feeding impairment and breathing difficulties are common in NMDs. Lifesaving interventions such as tube feeding and ventilatory support are common in severe cases. Conclusions: Feeding impairment, dysphagia and dysarthria are prevalent in NMDs with congenital or early age of onset. Feeding and swallowing has been studied more than speech and saliva control. More children with NMD survive thanks to new treatment options and it is therefore urgent to follow up how these therapies may impact the development of feeding, swallowing, and speech.

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Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

Cited by 22 publications

References 63 publications

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021

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