Dysphagia in children with congenital myopathy, underlying mechanisms and advices for assessment and treatment

The swallow-team (children) of the Radboud University Medical Centre performs
assessments and gives advices to parents of children with complex swallowing
disorders (dysphagia). Based on scientific research several disease specific
treatments have been developed for children with neurologic disorders or
syndromes. In children with neurologic conditions, like cerebral palsy
(spasticity), neuromuscular diseases (muscle diseases) and metabolic diseases,
dysphagia is often reported and is influencing negatively the quality of life
of the children and their parents.
To assess the specific swallowing problems in children with neuromuscular
disorders measurements and analyses were performed with videofluoroscopic
swallow studies (radiological swallow investigation with different
consistencies of food, mixed with contrast, with observation of the oral,
pharyngeal and esophageal phase of swallowing), surface EMG of the submental
muscle group and quantitative muscle ultrasound. This non-invasive method was
already available for skeletal muscles and was further developed by our
research group for the diagnostics of oral muscles. First of all we collected
normal data in children and young adults between 5 and 30 years and these data
were compared with the patient group of boys and adults with Morbus Duchenne.
Based on these findings we were able to develop advices for assessment and
management of dysphagia in children with spinal muscular atrophy type (SMA) II
as well as for boys with Duchenne.
In these research projects disease specific mechanisms were found causing the
swallowing problems, which allows us to develop new interventions. The written
interventions for these two groups can not be translated one to one for
children with congenital myopathy, in which facial weakness, much more
pronounced than in SMA or Duchenne, and related anatomical deviances of the
mandible and maxilla, are influencing swallowing. In children with congenital
myopathy severe muscle weakness is present, resulting in problems with
breathing, sucking and swallowing. Furthermore, the swallowing disorders in
children with congenital myopathy seemed to recover slightly during the first
years. Therefore, assessment, advices and possible interventions in the early
years are essential.

Based on the above mentioned research projects this project is written to
develop also for children with a congenital myopathy disease specific
assessments and treatment protocols.
To provide parents of children with a congenital myopathy effective and
preventive advices, and interventions, this research is needed to investigate
the course and underlying pathological mechanisms of dysphagia in this patient
group.

Objective 1
To describe the course and underlying mechanisms of dysphagia in children with
congenital myopathy (from 6 months to 12 years)
Objective 2
To formulate recommendations for early detection, diagnostic assessment ,
treatment and advices for dysphagia in children with congenital myopathy, as
well as for involved health care professionals as for the parents of these
children. A summary will be published on a fact sheet.

Part 1 of the study: Collecting normal data of echo intensity and thickness of
the digastrics muscles (left and right), geniohyoid muscle, masseter muscle,
temporal muscle and tongue thickness with quantitative muscle ultrasound in
healthy children between 6 months and 5 years (from January 2015 to May 2015)

This is a descriptive design in which sex, age, length and weight are used to
formulate normal values. These data will be related to feeding (drinking form
breast or bottle, eating from a spoon, chewing solid food).

Part 2 of the study: Describing the dysphagia in 10-12 (young) children with a
congenital myopathy, who are referred to the swallow team - children of the
Radboudumc, or children with a congenital myopathy and feeding and swallowing
problems, that are reported by their parents, after reading the announcement of
this research project on the website of Spierziekten Nederland (from January
2015 to June 2016).

This is a descriptive design (cross sectional) in which the dysphagia in
children with congenital myopathy will be assessed with the following
assessments: observation of eating and / or drinking, questionnaire on
functional activities during eating and drinking, a swallowing assessment with
sEMG measurements of the submental muscle group and registration of nasal flow,
and if necessary (in case of doubt about safety of the swallow act) en
videofluoroscopic swallow study. Furthermore, the ultrasound measurements,
described in part 1 of the study, will be performed.

There wiil be minimal risk, because the measurements are not invasive, not long
standing and will be performed only once. The risks for the group (children)
are negigible and the burden is minimal. The assessment will be done in
presence of the parents, who will be informed.