Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Sep 14;13(18):5459.
doi: 10.3390/jcm13185459.

Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy

Federica Trucco  1   2   3 , Andrea Lizio  1 , Elisabetta Roma  1 , Alessandra di Bari  1 , Francesca Salmin  1 , Emilio Albamonte  1 , Jacopo Casiraghi  1 , Susanna Pozzi  1 , Stefano Becchiati  1 , Laura Antonaci  4 , Anna Salvalaggio  5 , Michela Catteruccia  6 , Michele Tosi  6 , Gemma Marinella  7 , Federica R Danti  8 , Fabio Bruschi  8 , Marco Veneruso  9 , Stefano Parravicini  10   11 , Chiara Fiorillo  9 , Angela Berardinelli  10 , Antonella Pini  12 , Isabella Moroni  8 , Guja Astrea  7 , Roberta Battini  7   13 , Adele D'Amico  6 , Federica Ricci  5 , Marika Pane  4 , Eugenio M Mercuri  4 , Nicholas E Johnson  14 , Valeria A Sansone  1   2
Affiliations

Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy

Federica Trucco et al. J Clin Med. .

Abstract

Background: Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. Methods: This was an observational multicenter study. Reported sleep quality was assessed using the Pediatric Daytime Sleepiness Scale (PDSS) and Pediatric Sleep Questionnaire (PSQ). Sleep quality was correlated to motor function (6 min walk test, 6MWT and grip strength; pulmonary function (predicted Forced Vital Capacity%, FVC% pred.); executive function assessed by BRIEF-2; autism traits assessed by Autism Spectrum Screening Questionnaire (ASSQ) and Repetitive Behavior Scale-revised (RBS-R); Quality of life (PedsQL) and disease burden (Congenital Childhood Myotonic Dystrophy Health Index, CCMDHI). Results: Forty-six patients were included, 33 CDM and 13 ChDM, at a median age of 10.4 and 15.1 years. Daytime sleepiness and disrupted sleep were reported by 30% children, in both subgroups of CDM and ChDM. Daytime sleepiness correlated with autism traits in CDM (p < 0.05). Disrupted sleep correlated with poorer executive function (p = 0.04) and higher disease burden (p = 0.03). Conclusions: Sleep issues are a feature of both CDM and ChDM. They correlate with behavioral issues and impact on disease burden.

Keywords: childhood myotonic dystrophy type 1; congenital myotonic dystrophy type 1; excessive daytime sleepiness; obstructive sleep apnea; sleep-related breathing disorders.

PubMed Disclaimer

Conflict of interest statement

A. Lizio, F. Salmin, A. Di Bari, S. Pozzi, L. Antonaci, A. Salvalaggio, Michela Catteruccia, Michele Tosi, G. Marinella, F. Danti, F. Bruschi, M. Veneruso, S. Parravicini, C. Fiorillo, A. Berardinelli, A Pini, I. Moroni, G. Astrea, R. Battini, F. Ricci have no disclosures. F. Trucco reports participation inScientific Advisory boards for Roche UK and teaching initiatives for Biogen, Avexis, Roche, Breas. E. Roma and S. Becchiati report participation in teaching initiatives for Roche. E. Albamonte reports participation with Scientific Advisory boards for Roche, Novartis and teaching initiatives for Biogen, Novartis, Roche. J. Casiraghi reports participation in teaching initiatives for Roche, Biogen, Novartis e Pharmalex. Adele D’Amico reports participation in Scientific Advisory board for Novartis, Roche, and Novartis and teaching initiatives for Biogen. She is also involved as an investigator in clinical trials from Novartis, Biogen, Roche. In addition, she is an investigator of the Italian registry participating in iSMAc, partially funded by Biogen. M. Pane reports participation in Scientific Advisory boards and teaching initiatives for Novartis and Biogen. V.A. Sansone provides intellectual support in Advisory Boards and teaching activities for Biogen, Santhera, Sarepta, PTC, Dyne, Triplet, and Novartis. E. Mercuri reports participation in Scientific Advisory boards and teaching initiatives for Biogen, Roche, Scholar Rock, and Novartis. He is involved as an investigator in clinical trials from Novartis, Biogen, Scholar Rock, and Roche. In addition, he is the principal investigator of the Italian registry participating in iSMAc, partially funded by Biogen, Roche and Novartis. Johnson has received grant funding from NINDS (R01NS104010, U01NS124974), NCATS (R21TR003184), CDC (U01DD001242) and the FDA (7R01FD006071). He has received grant funding from the Myotonic Dystrophy Foundation, C3 Foundation, and the Muscular Dystrophy Association. He receives royalties from the CCMDHI and the CMTHI. He receives research funds from Takeda, Pfizer, Avidity, Sanofi Genzyme, Dyne, Vertex Pharmaceuticals, PepGen, Fulcrum Therapeutics, AskBio, ML Bio, and Sarepta. He has provided consultation for Arthex, Rgenta, Sarepta, Juvena, PepGen, AskBio, Takeda, Dyne, Avidity, and Vertex Pharmaceuticals. Prof. V. A. Sansone reports participation in Scientific Advisory boards and teaching initiatives for Biogen, Roche and Novartis. She is the PI in clinical trials supported by Biogen, Roche and Scholar Rock.

References

    1. Harley H.G., Brook J.D., Rundle S.A., Crow S., Reardon W., Buckler A.J., Harper P.S., Housman D.E., Shaw D.J. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992;355:545–546. doi: 10.1038/355545a0. - DOI - PubMed
    1. Harper P.S., van Engelen B.G., Eymard B., Rogers M., Wilcox D. 99th ENMC international workshop: Myotonic dystrophy: Present management, future therapy. 9–11 November 2001, Naarden, The Netherlands. Neuromuscul. Disord. 2002;12:596–599. doi: 10.1016/S0960-8966(02)00020-2. - DOI - PubMed
    1. Thornton C.A. Myotonic Dystrophy. Neurol. Clin. 2014;32:705–719. doi: 10.1016/j.ncl.2014.04.011. - DOI - PMC - PubMed
    1. Udd B., Krahe R. The myotonic dystrophies: Molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012;11:891–905. doi: 10.1016/S1474-4422(12)70204-1. - DOI - PubMed
    1. De Antonio M., Dogan C., Hamroun D., Mati M., Zerrouki S., Eymard B., Katsahian S., Bassez G., French Myotonic Dystrophy Clinical N. Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. Rev. Neurol. 2016;172:572–580. doi: 10.1016/j.neurol.2016.08.003. - DOI - PubMed

LinkOut - more resources