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. 2016 Jul 12;87(2):160-7.
doi: 10.1212/WNL.0000000000002845. Epub 2016 Jun 15.

Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study

Nicholas E Johnson  1 , Russell Butterfield  2 , Kiera Berggren  2 , Man Hung  2 , Wei Chen  2 , Deanna DiBella  2 , Melissa Dixon  2 , Heather Hayes  2 , Evan Pucillo  2 , Jerry Bounsanga  2 , Chad Heatwole  2 , Craig Campbell  2
Affiliations

Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study

Nicholas E Johnson et al. Neurology. .

Abstract

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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Figures

Figure 1
Figure 1. Functional outcome measures in CDM
(A) Six-minute walk distance by age comparing children with CDM and healthy controls. (B) Six-minute walk distance by age, comparing high and low CTG repeat lengths. (C) Right grip strength by age with children with CDM and healthy controls. (D) Right grip strength comparison between children with high or low CTG repeat expansion. (E) Right pinch strength by age between children with CDM and healthy controls. (F) Right pinch strength by age for children with high or low CTG repeat expansion. CDM = congenital myotonic dystrophy.
Figure 2
Figure 2. Oral facial strength in CDM
(A) Lip force strength comparison between children with CDM and healthy controls. (B) Tongue strength comparison between children with CDM and healthy controls. CDM = congenital myotonic dystrophy.
Figure 3
Figure 3. Intelligence, quality of life, and sleep in CDM
(A) IQ by age in children with CDM. (B) IQ by age, separating high and low CTG repeat expansions. (C) Daytime sleepiness by age in children with CDM. (D) Daytime sleepiness by age, separating high and low CTG repeat expansions. (E) Pediatric sleep quality in children with CDM. (F) Pediatric sleep quality by age, separating high and low CTG repeat expansions. (G) Pediatric quality of life in children with CDM and in healthy controls. (H) Pediatric quality of life in children with high or low CTG repeat expansions. CDM = congenital myotonic dystrophy; PDSS = Pediatric Daytime Sleepiness Scale; PedsQL = Pediatric Quality of Life Inventory; PSQ = Pediatric Sleep Questionnaire.
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References

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