Factors associated with health-related quality of life in children with congenital myotonic dystrophy
CPS ePoster Library. Ceballos-Saenz D. 06/01/17; 176630; 69
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Background: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that results from a CTG trinucleotide repeat in the DMPK gene. Congenital myotonic dystrophy (CDM) is the most severe form of DM1, and patients with CDM are reported to have reduced health-related quality of life (HRQoL). However, the relationship between disease manifestations in CDM and HRQoL has not been well-characterized. Most studies assessing HRQoL have focused on adult-onset DM1, showing that excessive daytime sleepiness, fatigue, cognitive deficits, and muscle weakness negatively impact HRQoL.

Objectives: The objective of this study was to evaluate the relationship between HRQoL and neuropsychological function, physical capacity, comorbidities, and disease severity in children with CDM.

Methods: Children with CDM aged 0-13 years were enrolled at two sites. PedsQL™ Generic Core Scales and Neuromuscular Module Parent Proxy-Reports were used to measure HRQoL. Neuropsychological function was assessed using Pediatric Daytime Sleepiness Scale, Social Communication Questionnaire, Vineland Adaptive Functioning Scale, and Wechsler Intelligence Scale for Children® or Wechsler Preschool and Primary Scale of Intelligence™. The Six-Minute Walk Test (6MWT) Z-score was used as a measure of physical capacity. CTG repeats, a measure of disease severity, and comorbidities were retrieved from patient histories. Correlations between patient characteristics and HRQoL were computed with the Spearman correlation coefficient in Stata 13.0.

Results: Forty-eight participants with CDM were enrolled: 24 females and 24 males with an average age of 6.5 years (SD 3.4). Greater daytime sleepiness was significantly associated with poor overall HRQoL determined by generic (ρ=-0.41, P=0.007) and neuromuscular (ρ=-0.40, P=0.01) measures, as well as psychosocial HRQoL (ρ=-0.46, P=0.002). Higher adaptive functioning (Vineland subscales) was significantly associated with better HRQoL determined by the neuromuscular module: communication (ρ=0.39, P=0.03), daily living skills (ρ=0.54, P=0.002), and socialization (ρ=0.52, P=0.005). Higher physical capacity, determined by 6MWT Z-score, was associated with better physical (ρ=0.37, P=0.04) but not overall HRQoL. An increased number of comorbidities was associated with poor overall HRQoL determined by generic (ρ=-0.40, P=0.009) and neuromuscular (ρ=-0.32, P=0.05) measures. CTG repeats did not correlate with HRQoL.

Conclusion: This study has identified several factors that are associated with HRQoL in children with CDM. Daytime sleepiness, adaptive functioning, and higher comorbidities had the most pronounced effect on HRQoL. These may be promising factors to target in treatment plans.

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