To explore the nature, disturbed mechanisms and consequences of feeding, mastication and swallowing problems in patients with SMA type II and III, and to describe these problems using instrumental, clinical dysphagia assessments and the LINMA(-k) (…
ID
Source
Brief title
Condition
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
a. LINMA, 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.
b. VFSS: Feeding, mastication and swallowing problems are investigated in the
oral transit phase, the pharyngeal phase and upper oesophageal phase of
swallowing, using VFSS, with outcome variables:
Formation of bolus pureed food (yes/no); duration of oral transit phase in
liquids (sec.); piecemeal 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 judge the video of the VFSS (from at least 10
patients of the total amount of VFSS, randomly chosen) and the data will used
to assess interrater reliability.
c. 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 judge the ultrasound images (both quantitative and
qualitative) (from at least 10 patients of the total amount of measurements,
randomly chosen) and data will compared to assess interrater reliability.
d. Active maximum mouth opening (aMMO), outcome measures: distance between
upper en lower teeth plus overbite in mm*s.
e. Timed Water Swallowing test (TWST), outcome measures: ml/sec (comparisons
with normal values)(J.G.Kalf, 2011; Nathadwarawala, 1992)
f. Swallowing Volume Test (SVT), outcome measures: max ml water swallowed in
one swallow (comparisons with normal values) (Ertekin C, 1996; J.G.Kalf, 2011).
g. 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).
h. 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).
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 judge the video of performance of this test (from
at least 10 patients of the total amount, randomly chosen) and data will
compared to assess interrater reliability.
Secondary outcome
not apllicable.
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, mastication and swallowing problems. Problems with feeding,
mastication 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, mastication
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, mastication 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, disturbed mechanisms and consequences of feeding,
mastication and swallowing problems in patients with SMA type II and III, and
to describe these problems using instrumental, clinical dysphagia assessments
and the LINMA(-k) (an adapted questionnaire specially developed for
neuromuscular diseases) in order to describe feeding and swallowing problems
and to develop symptomatic treatment strategies.
Study design
The study design is a cross-sectional descriptive cohort study. Dysphagia will
be studied with the gold standard VFSS and clinical observation tools in a
large group of patients with SMA II and III (N=30).
Inclusion of the patients will be from February 2018 to February 2019. The
study will be conducted in the UMC Utrecht.
Patients with SMA type II and III (6 -75 years of age) who take part of the
study *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 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 results and, if applicable, advices are formulated.
It is ensured to minimize the chance on choking, by placing the patient in a
stable position and offer standardized portions of 5 ml (6 to 11 years of age)
or 10 ml (>12 years of age). These portions can be considered as small in
comparison with the swallowing portions in healthy persons.
For VFSS participants are exposed to radiation, during a restricted number of
swallows ( a maximum of 13 times), which is determined to minimize the exposure
of radiation.In case of a swallowing disorder, the otolaryngologist will
consider a laryngoscopy. The decision to do this will be taken in dialogue with
the patient. Participants are given the opportunity to object against any
measurement.
When children are not cooperating with the procedure, the measurement is
stopped.
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 or III, and a genetically confirmed homozygous SMN1 deletion;
2) patients with complaints of feeding, mastication and/or swallowing problems;
3) given oral and written informed consent when *16 years old;
4) given oral and written informed consent by the parents or legal representative and the patient in case of patients aged *12 till <16 years old;
5) given oral and written informed consent by the parents or legal representative in case of patients < 12 years of age.
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 | NL62484.041.17 |