Myotonic dystrophy type 1, Duchenne muscular dystrophy Muscular disorders
Conditions
Interventions
The speech and language therapy intervention consists of an intensive phase of 8 weeks, followed by 10 months of maintenance exercises. During the intensive phase, children receive therapy from a spee
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: A genetically confirmed diagnosis of MD1 or DMD.Participants must be between 5 and 18 years of age.Participants’ developmental age must be above 5 years. This is determined based on school placement or, in cases of uncertainty about overall development, through neuropsychological assessment.A z-score of at least +1.5 for echogenicity in one of the floor-of-mouth muscles (mm. digastrici and m. geniohyoideus), the masticatory muscle (m. masseter), and/or the tongue muscles (m. transversus and m. genioglossus), based on reference values from healthy subjects.For speech intervention, participants must present with dysarthria, as assessed using the Dutch Dysarthria Assessment for Children (NDO-K), with a severity score of 1 – 4.
Exclusion criteria
Exclusion criteria: Participants will be excluded from the study if they have comorbidities that could affect speech or swallowing, such as a central neurological disorder.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Quantitative muscle ultrasound will be performed to determine the muscle thickness and echogenicity of the masticatory muscles (m. masseter and m. temporalis), the suprahyoid muscles (m. digastricus and m. geniohyoideus), and the tongue muscles (m. longitudinalis superior, m. transversus, and m. genioglossus). In the analysis, (preservation of) muscle quality will be compared with historical controls from the existing database. | — |
Secondary
| Measure | Time frame |
|---|---|
| Quantitative study: In addition to the primary outcome measure, several secondary outcome measures will be used:The level of functional non-oral to oral food intake will be assessed using the Children’s Eating and Drinking Activity Scale (CEDAS).The efficiency of swallowing liquids will be measured based on maximum swallowing volume and maximum swallowing speed.To assess chewing and swallowing efficiency for solid foods, the Test of Masticating and Swallowing Solids (TOMASS) will be administered.Maximum bite force (MBF) will be measured using the Innobyte Bite Force Measurement Device by Kube Innovation. The device measures maximum bite force in Newton (N).The severity of dysarthria will be assessed using the Dutch Dysarthria Assessment for Children (NDO-K).The impact of swallowing difficulties will be determined using the Australian Therapy Outcome Measures (AusTOMs) set, Swallowing scale.Speech intelligibility will be evaluated using listening experiments, including direct magnitude estimation and paired comparison.Finally, quality of life will be evaluated. It is expected that a generic quality of life (QoL) questionnaire for children, such as the PedsQL, may not be sufficiently specific to adequately measure changes following speech therapy intervention. For this reason, the Peds-SWAL-QoL has been included as an outcome measure in this study.Qualitative study: The experiences of children with MD1 and DMD and their parents/caregivers will be explored in order to gain insight into how they experienced the intensive speech and language therapy intervention. In addition, the perspectives of speech and language therapists will also be included, in order to improve the treatment process and to develop strategies for implementation. | — |
Countries
Netherlands
Contacts
Public ContactMLJ Lagarde
Radboud Universitair Medisch Centrum
Outcome results
None listed