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

TY - JOUR

T1 - DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing

AU - Zang, Jana

AU - Witt, Stefanie

AU - Johannsen, Jessika

AU - Weiss, Deike

AU - Denecke, Jonas

AU - Dumitrascu, Charlotte

AU - Nießen, Almut

AU - Quitmann, Julia Hannah

AU - Pflug, Christina

AU - Flügel, Till

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - Child

KW - Infant

KW - Humans

KW - Deglutition

KW - Consensus

KW - Muscular Atrophy, Spinal

KW - Deglutition Disorders/diagnosis

KW - Surveys and Questionnaires

U2 - 10.3233/JND-230177

DO - 10.3233/JND-230177

M3 - SCORING: Journal article

C2 - 38457144

VL - 11

SP - 473

EP - 483

JO - J NEUROMUSCULAR DIS

JF - J NEUROMUSCULAR DIS

SN - 2214-3599

IS - 2

ER -