Dysphagia Swallowing disorders
Conditions
Interventions
Dysphagia
Spinal Muscular Atrophy
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
12 Years to 64 Years
Inclusion criteria
Inclusion criteria: 1) a clinical diagnosis of SMA type II, IIIa, IIIb, IV, and a genetically confirmed homozygous SMN1 deletion 2) given oral and written informed consent when *18 years old; 3) given informed consent by the parents or legal representative and the patient in case of patients aged *12 till
Exclusion criteria
Exclusion criteria: 1) Severe SMA, defined as clinical types 0 and I; 2) Inability to meet study visits 3) Total tube feeding
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| a. VFSS: Feeding and swallowing problems are investigated in the oral transit phase, the pharyngeal phase and upper oesophageal phase of swallowing, using VFSS, with primary endpoints: Formation of bolus pureed food (yes/no); duration of oral transit phase in liquids (sec.); piece meal deglutition (yes/no); laryngeal aspiration/penetration (8-point scale);post-swallow residue in the hypopharynx (score 1-6); reduced UES opening (yes/no) and premature closure UES (yes /no). Two independent raters will observe the video of the VFSS (15% of the total amount of VFSS, randomly chosen) and data will compared to assess interrater reliability. b. Timed Water Swallowing test (TWST), outcome measures: ml/sec (comparisons with normal values)(J.G.Kalf, 2011; Nathadwarawala, 1992) Two independent raters will score this test (15% of the total amount, randomly chosen) and data will compared to assess interrater reliability. c. Swallowing Volume Test (SVT), outcome measures: max ml water swallowed in one swallow (comparisons with normal values) (Ertekin C, 1996; J.G.Kalf, 2011). Two independent raters will score this test (15% of the total amount, randomly chosen) and data will compared to assess interrater reliability. d. Test for Observation of Mastication and Swallowing Solids (TOMASS), outcome measures: number of discrete bites, masticatory cycles, swallows, total time (comparisons with normal values, ML Huckabee et al). Two independent raters will observe the video of performance of this test (15% of the total amount, randomly chosen) and data will compared to assess interrater reliability. e. Six minute mastication test (endurance) (6MMT), outcome measures: total amount of chewing cycles and the difference between minute 1 (M1) and minute 6 (M2) (data are compared with normal values using z-scores, van den Engel-Hoek et al, 2017). Two independent raters will observe the video of performance of this test (15% of the total amount, randomly chosen) an | — |
Countries
The Netherlands
Outcome results
None listed