Date Presented 03/27/20
Circadian rhythms are physical, mental, and behavioral changes that follow a daily cycle. They help influence sleep and wake patterns and can be useful in identification of maladaptive sleep patterns that are known to exacerbate symptoms of rare disease. This research explored circadian rhythms and sleep in young males with Duchenne muscular dystrophy and age-matched unaffected males. Understanding circadian rhythms is pivotal for successful sleep intervention.
Primary Author and Speaker: Amy Hartman
Additional Authors and Speakers: Roxanna Bendixen
Contributing Authors: Lauren Terhorst, Natalie Little, Chin-Hao Yeh
PURPOSE: Pediatric circadian rhythm and sleep disturbances are characteristic of many diagnostic populations and may exacerbate the consequences of these disorders (Beebe, 2016). However, sleep patterns are often overlooked due to other complex and life-threatening symptoms of many pediatric disorders. In Duchenne Muscular Dystrophy (DMD), sleep is typically assessed when pulmonary function is impacted by disease progression, which often happens in the teenage years. Little is known about the sleep patterns of younger boys with DMD. It is highly likely that circadian rhythm and sleep disturbances have a negative effect on the quality of life of these children and their caregivers. Boys with DMD have high rates of learning disabilities (26%), intellectual disabilities (17-27%), attention-deficit-hyperactivity disorder (32%) and are at a high risk for depression and anxiety (Birnkrant, et al. 2018). Interestingly, research has shown that many of these concerns are highly related to and exacerbated by inadequate sleep (Beebe 2016, Veatch et al. 2017, Velez-Galarraga et al. 2016). We believe researchers and clinicians have not paid sufficient attention to the importance of circadian balance and sleep in the treatment of DMD. Improving circadian organization, and hence sleep, should be of high priority. Our research explores circadian rhythms, sleep efficiency and parent reported sleep habits in males with Duchenne Muscular Dystrophy compared to age-matched, unaffected males.
HYPOTHESES: Boys with DMD are hypothesized to have more variable circadian rhythms and lower percentages of sleep efficiency when compared with age-matched controls.
METHODS: Boys aged 4-17 with DMD (n= 19) and age matched controls (n=17) were recruited to wear the ActiGraph GT9X throughout the day and night for 30 days. Caregivers were also asked to complete a weekly Children’s Sleep Habits Questionnaire (CSHQ, Owens, 2000). Data were separated to allow for exploration between younger (ages 4-9) and older (ages 10-17) cohorts. Circadian rhythm patterns, percent sleep efficiency, and CSHQ data were analyzed (R-Studio nparACT, ActiLife 2010).
RESULTS: Circadian rhythm analyses consisted of 10 days/nights of continuous actigraphy and demonstrated statistically significant differences between the DMD and control groups in daily activity divergence (RA), and activity levels during both the most active 10 hours of the day and the least active 5 hours of the day. Additionally, statistically significant differences were found between the young and old groups, despite diagnosis, in overall activity of the most active 10 hours of the day (M10) and relative amplitude (RA). Average sleep efficiency was found to be similar for all groups, however statistical significance was found between diagnosis groups in total CSHQ score and the Wake During the Night subsection.
CONCLUSIONS: The consequences of DMD are fatigue, anxiety, depression, difficulties in psychosocial, emotional and behavioral functioning, limited social engagement, and poor academic outcomes. These are also consequences of poor circadian and sleep patterns. This study identifies the differences between circadian rhythm and sleep patterns in males with DMD and their unaffected peers, allowing for a better understanding of sleep in this population. Understanding sleep and the related outcomes in DMD provides important opportunities for intervention to impact the consequences of this devastating disorder.
IMPACT: Untreated sleep disruptions may lead to declines in attention and concentration, increases in behavioral manifestations, and the progression of chronic conditions that make the care of children challenging. If identified, sleep and circadian disruptions are often treatable.
References
Beebe, D. W. (2016). Sleep Problems as Consequence, Contributor, and Comorbidity: Introduction to the Special Issue on Sleep, Published in Coordination with Special Issues in Clinical Practice in Pediatric Psychology and Journal of Developmental and Behavioral Pediatrics. Journal of Pediatric Psychology, 41(6), 583-587. doi:10.1093/jpepsy/jsw037
Birnkrant, D., Bushby, K., Bann, C. M., Apkon, S. D., Blackwell, A., Colvin, M. K., Cripe, L., & Herron, A. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurology, 17(5), 445-455. doi: 10.1016/S1474-4422(18)30026-7
Veatch, O. J., Sutcliffe, J. S., Warren, Z. E., Keenan, B. T., Potter, M. H., & Malow, B. A. (2017). Shorter sleep duration is associated with social impairment and comorbidities in ASD. Autism Research, 10(7), 1221-1238. doi:10.1002/aur.1765
Velez-Galarraga, R., Guillen-Grima, F., Crespo-Eguilaz, N., & Sanchez-Carpintero, R. (2016). Prevalence of sleep disorders and their relationship with core symptoms of inattention and hyperactivity in children with attention-deficit/hyperactivity disorder. Eur J Paediatric Neurology, 20(6), 925-937. doi:10.1016/j.ejpn.2016.07.004
