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Review
. 2024;11(2):473-483.
doi: 10.3233/JND-230177.

DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing

Jana Zang  1 , Stefanie Witt  2 , Jessika Johannsen  3 , Deike Weiss  3 , Jonas Denecke  3 , Charlotte Dumitrascu  1   1 , Almut Nießen  1 , Julia Hannah Quitmann  2 , Christina Pflug  1   1 , Till Flügel  1   1
Affiliations
Review

DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing

Jana Zang et al. J Neuromuscul Dis. 2024.

Abstract

Background: The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underrepresented in research.

Objective: This study aimed to develop a tool to monitor swallowing development in children aged 0 to 24 months with SMA.

Methods: The method was guided by the COSMIN guidelines and followed a multi-stage Delphi process. The first step was a rapid review of swallowing outcomes in children with SMA younger than 24 months. In the second step, online group interviews with experts (n = 7) on dysphagia in infants were conducted, followed by an anonymous online survey among experts in infants with SMA (n = 19). A predefined consensus threshold for nominal scaled voting was set at≥75 % and for 5-point Likert scale voting at 1.25 of the interquartile range. The third step was the pilot test of the instrument, performed with three groups (healthy controls n = 8; pre-symptomatic n = 6, symptomatic n = 6).

Results: Based on the multi-level interprofessional consensus, the DySMA comprises two parts (history and examination), ten categories, with 36 items. Implementation and scoring are clearly articulated and easy to implement. The pilot test showed that swallowing development could be recorded in all groups.

Conclusion: The DySMA is well suited for monitoring swallowing development in pre-symptomatic and symptomatic treated infants with SMA. It can be performed in a time-efficient and interprofessional manner. The resulting score is comparable to results from other instruments measuring other domains, e.g., motor function.

Keywords: Spinal muscular atrophy; bulbar function; deglutition; dysphagia; feeding.

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Conflict of interest statement

The authors declare that they have no competing interests regarding the manuscript.

Figures

Fig. 1
Fig. 1
Modified multi-stage Delphi process of the DySMA development; FS = formulation session; CD = cognitive debriefing; sym. = symptomatic.
Fig. 2
Fig. 2
Graphic representation of the development of swallowing measured with the DySMA (a-c) and the OrSAT (d-f); a; d) in a healthy control sample; each point represents one case, b; e) in an SMA sample, the children were clinically pre-symptomatic before the start of therapy, c; f) in an SMA sample, the children were symptomatic before the start of treatment, the lines represent the course of a case.
See this image and copyright information in PMC

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