Volume 71, Issue 4 pp. 606-610

CLINICAL RESEARCH ARTICLE

Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1

Eleonora Silvana D'Ambrosio,

Corresponding Author

Eleonora Silvana D'Ambrosio

[email protected]

orcid.org/0009-0009-1164-2731

Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA

Correspondence:

Eleonora Silvana D'Ambrosio ([email protected])

Contribution: Conceptualization, Investigation, Writing - original draft, Methodology, Validation, Visualization, Writing - review & editing, Formal analysis, Software, Data curation, Resources, Project administration

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Megan Rose,

Megan Rose

The Center for Clinical Excellence, Nationwide Children's Hospital, Columbus, Ohio, USA

Contribution: Writing - review & editing, Data curation, Visualization

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Shannon Chagat,

Shannon Chagat

Department of Pediatrics and Neurology, Ohio State University, Wexner Medical Center, Columbus, Ohio, USA

Contribution: Investigation, Validation, Resources

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Grace R. Paul,

Grace R. Paul

Division of Pulmonary and Sleep Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA

Contribution: Writing - review & editing, Methodology, Validation

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Megan A. Waldrop,

Megan A. Waldrop

orcid.org/0000-0001-9621-8319

Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA

Department of Pediatrics and Neurology, Ohio State University, Wexner Medical Center, Columbus, Ohio, USA

Contribution: Supervision, Conceptualization, Writing - original draft, Writing - review & editing

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Eleonora Silvana D'Ambrosio,

Corresponding Author

Eleonora Silvana D'Ambrosio

[email protected]

orcid.org/0009-0009-1164-2731

Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA

Correspondence:

Eleonora Silvana D'Ambrosio ([email protected])

Search for more papers by this author

Megan Rose,

Megan Rose

The Center for Clinical Excellence, Nationwide Children's Hospital, Columbus, Ohio, USA

Contribution: Writing - review & editing, Data curation, Visualization

Search for more papers by this author

Shannon Chagat,

Shannon Chagat

Department of Pediatrics and Neurology, Ohio State University, Wexner Medical Center, Columbus, Ohio, USA

Contribution: Investigation, Validation, Resources

Search for more papers by this author

Grace R. Paul,

Grace R. Paul

Division of Pulmonary and Sleep Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA

Contribution: Writing - review & editing, Methodology, Validation

Search for more papers by this author

Megan A. Waldrop,

Megan A. Waldrop

orcid.org/0000-0001-9621-8319

Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA

Department of Pediatrics and Neurology, Ohio State University, Wexner Medical Center, Columbus, Ohio, USA

Contribution: Supervision, Conceptualization, Writing - original draft, Writing - review & editing

Search for more papers by this author

First published: 07 February 2025

https://doi.org/10.1002/mus.28371

Citations: 1

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ABSTRACT

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.

Conflicts of Interest

The authors declare no conflicts of interest.

Open Research

Data Availability Statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Supporting Information

Filename

Description

mus28371-sup-0001-Supinfo.pdfPDF document, 353.5 KB

DATA S1. Supporting Information: Newly designed pediatric version of the Functional Outcomes of Sleep Questionnaire (FOSQ)-10. Each question is rated on a scale from 1 to 4, with 1 being “extreme difficulty” and 4 being “no difficulty”.

FIGURE S1A. Correlation between CTG repeats (on the X axis) and ESS (on the Y axis) in both cohorts of patients.

FIGURE S1B. Correlation between CTG repeats (on the X axis) and FOSQ-10 (on the Y axis) in both cohorts of patients.

FIGURE S2A. Correlation between CTG repeats (on the X axis) and ESS (on the Y axis) in the pediatric population.

FIGURE S2B. Correlation between CTG repeats (on the X axis) and FOSQ-10 (on the Y axis) in the pediatric population.

FIGURE S3A. Correlation between CTG repeats (on the X axis) and ESS (on the Y axis) in the adult population.

FIGURE S3B. Correlation between CTG repeats (on the X axis) and FOSQ-10 (on the Y axis) in the adult population.

FIGURE S4A. Correlation between age (on the X axis) and ESS (on the Y axis).

FIGURE S4B. Correlation between age (on the X axis) and FOSQ-10 (on the Y axis).

mus28371-sup-0002-TableS1.docxWord 2007 document , 21.1 KB

Table S1. Descriptive summary of the 27 DM1 patients.

Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

References

1K. A. Hagerman, S. J. Howe, C. R. Heatwole, and Christopher Project Reference Group, “The Myotonic Dystrophy Experience: A North American Cross-Sectional Study,” Muscle & Nerve 59 (2019): 457–464.
10.1002/mus.26420
PubMed Web of Science® Google Scholar
2S. H. Subramony, J. P. Wymer, B. S. Pinto, and E. T. Wang, “Sleep Disorders in Myotonic Dystrophies,” Muscle & Nerve 62 (2020): 309–320.
10.1002/mus.26866
PubMed Web of Science® Google Scholar
3M.-A. Quera Salva, M. Blumen, A. Jacquette, et al., “Sleep Disorders in Childhood-Onset Myotonic Dystrophy Type 1,” Neuromuscular Disorders 16 (2006): 564–570.
10.1016/j.nmd.2006.06.007
PubMed Web of Science® Google Scholar
4R. Arens and H. Muzumdar, “Sleep, Sleep Disordered Breathing, and Nocturnal Hypoventilation in Children With Neuromuscular Diseases,” Paediatric Respiratory Reviews 11 (2010): 24–30.
10.1016/j.prrv.2009.10.003
PubMed Web of Science® Google Scholar
5C. E. de Die-Smulders, C. J. Höweler, C. Thijs, et al., “Age and Causes of Death in Adult-Onset Myotonic Dystrophy,” Brain: A Journal of Neurology 121, no. 8 (1998): 1557–1563.
10.1093/brain/121.8.1557
PubMed Google Scholar
6L. Laberge, J. Mathieu, J. Auclair, É. Gagnon, L. Noreau, and C. Gagnon, “Clinical, Psychosocial, and Central Correlates of Quality of Life in Myotonic Dystrophy Type 1 Patients,” European Neurology 70 (2013): 308–315.
10.1159/000353991
CAS PubMed Web of Science® Google Scholar
7M. Boentert, M. Cao, D. Mass, et al., “Consensus-Based Care Recommendations for Pulmonologists Treating Adults With Myotonic Dystrophy Type 1,” Respiration;International Review ofThoracic Diseases 99 (2020): 360–368.
10.1159/000505634
PubMed Web of Science® Google Scholar
8D. Annane, D. H. Moore, P. R. J. Barnes, and R. G. Miller, “Psychostimulants for Hypersomnia (Excessive Daytime Sleepiness) in Myotonic Dystrophy,” Cochrane Database of Systematic Reviews 2006 (2006): CD003218.
PubMed Google Scholar
9D. Hilton-Jones, M. Bowler, H. Lochmueller, et al., “Modafinil for Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1: The Patients' Perspective,” Neuromuscular Disorders 22 (2012): 597–603.
10.1016/j.nmd.2012.02.005
CAS PubMed Web of Science® Google Scholar
10M. Cheminelle, M. C. Nougues, A. Isapof, et al., “Respiratory Function and Sleep in Children With Myotonic Dystrophy Type 1,” Neuromuscular Disorders 33 (2023): 263–269.
10.1016/j.nmd.2023.01.008
PubMed Web of Science® Google Scholar
11M. W. Johns, “A New Method for Measuring Daytime Sleepiness: The Epworth Sleepiness Scale,” Sleep 14 (1991): 540–545.
10.1093/sleep/14.6.540
CAS PubMed Web of Science® Google Scholar
12M. W. Johns, “Reliability and Factor Analysis of the Epworth Sleepiness Scale,” Sleep 15 (1992): 376–381.
10.1093/sleep/15.4.376
CAS PubMed Web of Science® Google Scholar
13Y. G. Wang, K. Benmedjahed, J. Lambert, et al., “Assessing Narcolepsy With Cataplexy in Children and Adolescents: Development of a Cataplexy Diary and the ESS-Chad,” Nature and Science of Sleep 9 (2017): 201–211.
10.2147/NSS.S140143
PubMed Web of Science® Google Scholar
14Y. G. Wang, D. Menno, A. Chen, et al., “Validation of the Epworth Sleepiness Scale for Children and Adolescents (ESS-Chad) Questionnaire in Pediatric Patients With Narcolepsy With Cataplexy Aged 7-16 Years,” Sleep Medicine 89 (2022): 78–84.
10.1016/j.sleep.2021.11.003
PubMed Web of Science® Google Scholar
15N. S. Gooneratne, T. E. Weaver, J. R. Cater, et al., “Functional Outcomes of Excessive Daytime Sleepiness in Older Adults,” Journal of the American Geriatrics Society 51 (2003): 642–649.
10.1034/j.1600-0579.2003.00208.x
PubMed Web of Science® Google Scholar
16T. A. Omachi, “Measures of Sleep in Rheumatologic Diseases: Epworth Sleepiness Scale (ESS), Functional Outcome of Sleep Questionnaire (FOSQ), Insomnia Severity Index (ISI), and Pittsburgh Sleep Quality Index (PSQI),” Arthritis Care and Research 63, no. S11 (2011): S287–S296.
10.1002/acr.20544
Google Scholar
17E. R. Chasens, S. J. Ratcliffe, and T. E. Weaver, “Development of the FOSQ-10: A Short Version of the Functional Outcomes of Sleep Questionnaire,” Sleep 32 (2009): 915–919.
10.1093/sleep/32.7.915
PubMed Web of Science® Google Scholar
18L. Barbé, S. Lanni, A. López-Castel, et al., “CpG Methylation, a Parent-Of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy,” American Journal of Human Genetics 100 (2017): 488–505.
10.1016/j.ajhg.2017.01.033
CAS PubMed Web of Science® Google Scholar
19L. Laberge, Y. Dauvilliers, P. Bégin, et al., “Fatigue and Daytime Sleepiness in Patients With Myotonic Dystrophy Type 1: To Lump or Split?,” Neuromuscular Disorders 19 (2009): 397–402.
10.1016/j.nmd.2009.03.007
PubMed Web of Science® Google Scholar
20W. C. Dement, J. Hall, and J. K. Walsh, “Tiredness Versus Sleepiness: Semantics or a Target for Public Education?,” Sleep 26 (2003): 485–486.
PubMed Web of Science® Google Scholar

Citing Literature

Volume71, Issue4

April 2025

Pages 606-610

Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1

ABSTRACT

Introduction/Aims

Methods

Results

Discussion

Conflicts of Interest

Open Research

Data Availability Statement

Supporting Information

References

Citing Literature

References

Information

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