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Assessing Sleep Disturbances Across the Lifespan in Myotonic Dystrophy Type 1

Assessing Sleep Disturbances Across the Lifespan in Myotonic Dystrophy Type 1 1024 683 Pam Georgiana
physicians in white coats looking at a tablet

Pilot study supports the use of sleep questionnaires to identify underrecognized symptoms in children and adults with DM1.

Myotonic Dystrophy Type 1 (DM1) is a genetic, multisystemic neuromuscular disorder that affects skeletal muscle, cardiac function, the endocrine system and the central nervous system. In addition to myotonia (the inability to relax muscles) and progressive muscle weakness, excessive daytime sleepiness and fatigue are among the most disabling yet underrecognized symptoms.

In a recent study published in Muscle & Nerve, Megan A. Waldrop, MD, pediatric neurologist at Nationwide Children’s Hospital and assistant professor of Pediatrics and Neurology at The Ohio State University College of Medicine, and colleagues evaluated the feasibility and utility of two sleep-related questionnaires across pediatric and adult DM1 populations.

The Epworth Sleepiness Scale (ESS) measures the likelihood of falling asleep under specific circumstances. The Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10) assesses the impact of daytime sleepiness on the activities of daily living. The research team also piloted a new pediatric version of the FOSQ-10.

“While sleep disturbances are well documented in adults, pediatric data are minimal, and there are no uniform guidelines for identification,” explains Dr. Waldrop. “We created the pediatric FOSQ-10 because our clinic sees both children and adults. It is important to have standard tools that work across the lifespan.”

Dr. Waldrop and team evaluated 27 patients with DM1 who completed the ESS and FOSQ-10 (adult or pediatric version, depending on age) during routine clinic visits from March to December 2023. Thirteen were pediatric patients (ages 2 to 17), and 14 were adults.

The study found that more than half of the participants had abnormal scores on at least one questionnaire. Among the pediatric patients, scores on the FOSQ-10 were more frequently abnormal than those on the ESS, indicating a greater perceived impact on daily functioning. Additionally, the pediatric FOSQ-10 showed a strong correlation with the pediatric ESS, supporting its potential as a clinically useful tool for identifying sleep-related impairments in children with DM1. No significant associations were found between questionnaire scores and CTG repeat length, inheritance pattern, intellectual disability or age.

“This preliminary analysis shows that when used together, these tools are comprehensive, readily accessible and will help providers identify which patients need more formal sleep workups,” says Dr. Waldrop.

Because children with DM1 often experience cognitive impairment, parents or caregivers completed the surveys on behalf of some younger patients. In addition, five of the patients were under the age of 7 and required parental assistance to complete the questionnaire. The team acknowledges that this approach introduces variability but also reflects real-world clinical practice in this population.

“Many of our pediatric patients struggle with expressing themselves, making it difficult to self-report symptoms. We need tools that are sensitive to these limitations but still give us insight into how sleep issues are affecting daily life,” explains Dr. Waldrop.

The researchers also note that, although the results are encouraging, the study’s small sample size limits statistical significance. Larger, multi-center studies are needed to validate the pediatric FOSQ-10 and further explore its relationship to objective sleep measures.

“This is a stepping stone,” Dr. Waldrop concludes. “We are hoping to raise awareness of how common and impactful sleep symptoms are with DM1, especially in kids, and to make sleep screening a standard part of neuromuscular care.”

 

Reference:

D’Ambrosio ES, Rose M, Chagat S, Paul GR, Waldrop MA. Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1. Muscle Nerve. 2025;71(4):606-610.

Image credit: Adobe Stock

About the author

Pam Georgiana is a brand marketing professional and writer located in Bexley, Ohio. She believes that words bind us together as humans and that the best stories remind us of our humanity. She specialized in telling engaging stories for healthcare, B2B services, and nonprofits using classic storytelling techniques. Pam has earned an MBA in Marketing from Capital University in Columbus, Ohio.