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Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy
Eleonora Silvana D'Ambrosio1, Megan Rose2, Shannon Chagat3
1Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA.
Insights
Assessing sleep disturbances in myotonic dystrophy type 1 (DM1) is crucial. Integrating the Epworth Sleepiness Scale (ESS) and Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10) provides a comprehensive evaluation for DM1 patients.
Area of Science:
- Neurology
- Sleep Medicine
- Genetic Disorders
Background:
- Sleep disturbances are common yet often overlooked in myotonic dystrophy type 1 (DM1).
- Standard sleep assessments may not fully capture the extent of sleep-related issues in DM1.
- Fatigue is a significant symptom impacting daily life for DM1 patients.
Purpose of the Study:
- To integrate two sleep questionnaires, the Epworth Sleepiness Scale (ESS) and the Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10), into routine clinical practice for DM1 patients.
- To develop and validate a pediatric version of the FOSQ-10 for use in children with DM1.
- To enhance the assessment of sleep disturbances and fatigue in both adult and pediatric DM1 populations.
Main Methods:
- Administered the ESS and FOSQ-10 to adult and pediatric DM1 patients.
- Developed a pediatric version of the FOSQ-10 and compared its performance with the pediatric ESS.
- Analyzed questionnaire scores in relation to clinical factors such as CTG repeat length and intellectual disability.
Main Results:
- Over half of the 27 DM1 patients assessed reported abnormal sleep questionnaire scores.
- The FOSQ-10 identified more abnormalities than the ESS in pediatric patients.
- A strong correlation was observed between the pediatric FOSQ-10 and pediatric ESS scores (r = -0.79, p = 0.002).
Conclusions:
- Combining the ESS and FOSQ-10 offers a more thorough assessment of fatigue in DM1 than using the ESS alone.
- Utilizing multiple assessment tools is essential for comprehensively evaluating sleep-related symptoms in DM1.
- The validated pediatric FOSQ-10 can aid in the early identification and management of sleep issues in children with DM1.
Introduction/Aims:
Sleep-related symptoms in myotonic dystrophy type 1 (DM1) are often unrecognized. This study aimed to integrate two sleep questionnaires into an outpatient clinic for assessing sleep disturbances in DM1 patients, while also developing a pediatric version of one questionnaire.
Methods:
We administered two sleep questionnaires to adult and pediatric patients with DM1: (1) the Epworth Sleepiness Scale (ESS), which assesses the likelihood of falling asleep under specific circumstances; and (2) the Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10), which evaluates the impact of daytime sleepiness on activities of daily living. We also developed a pediatric version of the adult FOSQ-10 and compared it to the pediatric ESS.
Results:
Among 28 DM1 patients, 27 completed the questionnaires. More than half (15 of 26, eight children and seven adults) had abnormal scores on either or both questionnaires. FOSQ-10 scores tended to be more abnormal than ESS scores in pediatric patients. No significant correlations were found between questionnaire scores and CTG repeats, intellectual disability, age, or inheritance pattern. The pediatric FOSQ-10 questionnaire showed a strong correlation with the pediatric ESS correlation coefficient -0.79 (p = 0.002).
Discussion:
The integration of the ESS and the FOSQ-10 allowed for a more comprehensive assessment of fatigue, a well-documented symptom in DM1 and one that the ESS alone might not fully capture. Our findings highlight the importance of incorporating multiple tools to assess sleep-related symptoms in DM1 patients.
