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Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study
Nicholas E Johnson1, Russell Butterfield2, Kiera Berggren2
1From the Departments of Neurology (N.E.J., R.B., K.B., D.D., M.D., E.P.), Orthopaedics (M.H., J.B.), and Physical Therapy (H.H.), and Division of Epidemiology (M.H., W.C.), The University of Utah, Salt Lake City; Department of Neurology (C.H.), The University of Rochester, NY; and Departments of Pediatrics, Clinical Neurological Sciences, and Epidemiology (C.C.), Western University, London, Canada. Nicholas.johnson@hsc.utah.edu.
Insights
Congenital-onset myotonic dystrophy (CDM) significantly impacts childhood strength and function. Key differences in mobility, oral motor skills, and cognitive abilities were observed compared to healthy children.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Congenital-onset myotonic dystrophy (CDM) is a rare genetic disorder.
- Understanding the disease burden and age-related changes in children with CDM is crucial for effective management.
Purpose of the Study:
- To describe the disease burden and age-related changes in children with congenital-onset myotonic dystrophy (CDM).
- To identify key phenotypes and functional deficits in pediatric CDM patients.
Main Methods:
- Children with CDM and age-matched controls (0-13 years) were evaluated.
- Assessments included functional tests, strength testing, neuropsychological evaluations, and quality-of-life measures.
- Statistical analyses compared CDM patients to controls.
Main Results:
- Children with CDM exhibited significantly reduced 6-minute walk distance and oral facial strength compared to controls.
- CDM patients showed significantly lower IQ scores (3 SDs below norm) and differences in grip strength, sleep, and quality of life.
- Strength measures correlated with each other but not with IQ.
Conclusions:
- This study identifies significant strength and functional deficits in children with CDM.
- These findings highlight important phenotypes for monitoring disease progression and for use in future therapeutic trials for pediatric CDM.
Objective:
Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood.
Methods:
Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years. Each cohort received age-appropriate evaluations including functional testing, oral facial strength testing, neuropsychological testing, quality-of-life measurements, and ECG. Independent-samples t test or Wilcoxon 2-sample test was used to compare the differences between children with CDM and controls. Probability values less than 0.05 are reported as significant.
Results:
Forty-one participants with CDM and 29 healthy controls were enrolled. The 6-minute walk was significantly different between CDM (258.3 m [SD 176.0]) and control participants (568.2 m [SD 73.2]). The mean lip force strength was significantly different in CDM (2.1 N [SD 2.8)] compared to control participants (17.8 N [SD 7.6]). In participants with CDM, the mean IQ (65.8; SD 18.4) was 3 SDs below the mean compared to standardized norms. Measurements of grip strength, sleep quality, and quality of life were also significantly different. Strength measures (oral facial strength, grip strength, and 6-minute walk) correlated with each other but not with participant IQ.
Conclusions:
This work identifies important phenotypes associated with CDM during childhood. Several measures of strength and function were significantly different between participants with CDM and controls and may be useful during future therapeutic trials.
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