To explore the nature and consequences of feeding and swallowing problems in patients with SMA type II, III, and IV, and to detect predictors of these problems from instrumental, clinical dysphagia assessments and the LINMA(-k) (an adapted…
ID
Source
Brief title
Condition
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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) and data will compared to assess
interrater reliability.
f. Active maximum mouth opening (aMMO), outcome measures: distance between
upper en lower teeth plus overbite in mm*s.
g. Ultrasound oral and facial muscles, outcome measures: echogenicity and
thickness of the muscles (quantitative, comparisons with normal values,
z-scores); Heckmatt -score (qualitative, score 1 = normal * score 4 = severely
increased echogenicity with absent bone reflection); presence of fasciculations
(yes / no) (Heckmatt, 1982).
Two independent raters will perform the analysis of the ultrasound images (both
quantitative and qualitative) (15% of the total amount, randomly chosen) and
data will compared to assess interrater reliability.
h. LINMA(-k), filled in by the patients (same as used in the Prevalence study,
METC protocol no. 09-307), amendment 11: *Swallowing function in SMA*) in terms
of no problems, mastication problems, swallowing problems or mastication and
swallowing problems by the patients.
i. Oral motor abilities: a qualitative description of the oral motor abilities
on the basis of the Radboud Oraal Onderzoek (qualitative scores for movements
of face, lips, tongue in terms of 0 = deviant or impossible to perform, 1 =
clearly deviant, 2 = minimally deviant or doubt, 3 = normal)
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.
Secondary outcome
Not applicable
Background summary
Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease,
characterized by proximal and axial muscle weakness (Lefebvre et al., 1995).
Involvement of lower and middle brain stem motor nuclei is relatively common
and the resulting bulbar muscle weakness is probably an important cause of
feeding and swallowing problems. Problems with feeding and swallowing may
result in complications including asphyxiation (Cichero et al., 2013),
aspiration and respiratory infections
Several clinical studies have addressed the frequency of feeding and swallowing
difficulties in patients with SMA, in particular types 2 and 3. Importantly,
these studies are with few notable exceptions based on questionnaires (Chen et
al , 2012; Messina et al., 2008) and not on the gold standard for dysphagia
evaluation, i.e. a videofluoroscopic swallowing study (VFSS).Although it is not
known whether questionnaire-based studies underestimate the frequency of
feeding and swallowing problems in patients with SMA, this seems very likely.
There are no studies that have systematically investigated the causes of bulbar
complications in SMA, and the current recommendations are based on a study with
only a small patient group (L van den Engel-Hoek et al., 2009).
In the present study the nature and factors underlying feeding and swallowing
problems will be studied, with the gold standard for dysphagia evaluation, the
VFSS, a range of dysphagia assessments, and a questionnaire, all part of an
extensive clinical feeding and swallowing evaluation.
Study objective
To explore the nature and consequences of feeding and swallowing problems in
patients with SMA type II, III, and IV, and to detect predictors of these
problems from instrumental, clinical dysphagia assessments and the LINMA(-k)
(an adapted questionnaire specially developed for neuromuscular diseases) with
the aim to identify feeding and swallowing problems at an early stage and to
develop symptomatic treatment strategies.
Secondary Objective is to establish a package of clinical feeding and
swallowing assessments which is sensitive to detect feeding and swallowing
problems in SMA.
Study design
The study design is a cross-sectional diagnostic cohort study. Dysphagia will
be studied with the gold standard VFSS and clinical observation tools in a
large group of patients with SMA II, IIIa, IIIb and IV (N=50).
Inclusion of the patients will be from June 2017 to June 2018. The study will
be conducted in the UMC Utrecht.
Patients (12 years and older) from our national database *Spinal muscular
atrophy, SMN protein and genetics* (dossier no. NL29692.041.09, METC protocol
no. 09-307, UMC Utrecht) will be informed on the study and will be asked to
consider participating in the study. After permission they are asked to come
to the hospital for half a day. They fill out the questionnaire LINMA(-k) with
40 questions, (specially designed for patients with neuromuscular diseases) and
they undergo instrumental dysphagia assessment (VFSS) and several clinical
dysphagia assessments.
Study burden and risks
Considering the suffering of patients with SMA, the burden of participants is
relatively small
and this study can be classified as a study with a negligible risk. Only one
visit to the
hospital (Utrecht) will be needed. The visit takes about three hours including
breaks for coffee or tea. The questionnaire and clinical testing will be
followed by the instrumental swallow assessment (VFSS). Patients will benefit
from the assessment, because they will be informed on the outcome measures and,
if applicable, the will be informed on possible adaptations or treatment.
For VFSS participants are exposed to radiation, during a restricted number of
swallows ( a maximum of 15 times), which is determined to minimize the exposure
of radiation. Participants are given the opportunity to object against any
measurement.
Heidelberglaan 100
Utrecht 3584 CX
NL
Heidelberglaan 100
Utrecht 3584 CX
NL
Listed location countries
Age
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 <18 years old;
Exclusion criteria
1) Severe SMA, defined as clinical types 0 and I;
2) Inability to meet study visits
3) Total tube feeding
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL61348.041.17 |