Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes - 03/09/21
, Beth A. Malow, MD, MS b, Hye-Seung Lee, PhD c, Aryn Knight, BS, CCRP d, Judy O. Barrish, BSN, RN e, Jeffrey L. Neul, MD, PhD f, Jane B. Lane, RN, BSN g, h, Steven A. Skinner, MD i, Walter E. Kaufmann, MD j, 1, Jennifer L. Miller, MD, MS k, Daniel J. Driscoll, MD, PhD k, Lynne M. Bird, MD l, Merlin G. Butler, MD, PhD a, Elisabeth M. Dykens, PhD m, June-Anne Gold, MD n, Virginia Kimonis, MD n, Carlos A. Bacino, MD e, Wen-Hann Tan, BMBS o, Sanjeev V. Kothare, MD p, Sarika U. Peters, PhD q, Alan K. Percy, MD g, h, Daniel G. Glaze, MD eAbstract |
Background |
Adequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared with typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes with each other, and with typically developing controls.
Methods |
Children were recruited from the Rare Diseases Clinical Research Network consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including Pediatric Sleep Questionnaire (Sleep-Disordered Breathing), Children's Sleep Habits Questionnaire (CSHQ), and Pediatric Daytime Sleepiness Scale.
Results |
Sleep data were analyzed from 714 participants, aged two to 18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared with individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances, which were associated with each of the genetic syndromes.
Conclusions |
Individuals with RTT, AS, and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.
Le texte complet de cet article est disponible en PDF.Keywords : Pediatric sleep, Rare disease, Genetic syndromes, Neurodevelopment
Plan
| Funding: Supported by NIH U54 grants RR019478 (NCRR) and HD061222 (NICHD), IDDRC grants HD38985 (NICHD) and HD08321 (NICHD) and grant LM012870 (NLM). The Angelman, Rett and Prader-Willi Consortium (U54 RR019478 (NCRR) and HD061222 [NICHD]) is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. |
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| Informed Consent Statement: All study participants or their legal guardian provided informed written consent before study enrollment. |
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| Author Disclosures: A.K.P.: Principal investigator of the NICHD-funded Natural History Study. He is site principal investigator of clinical trials in Rett syndrome sponsored by Anavex and Acadia Pharmaceuticals and the investigator-initiated trial using ketamine. He is a consultant with Acadia. W.E.K. is Chief Medical Officer of Anavex Life Sciences Corp. He has also been consultant to AveXis, EryDel, GW, Marinus, Neuren, Newron, Ovid, Stalicla, and Zynerba, for which he has no relevant financial interest. L.M.B. has served as a paid consultant to pharmaceutical companies regarding clinical trial design for Angelman syndrome, as well as received money from pharmaceutical companies to conduct clinical trials in Angelman syndrome. None of this work involved sleep. |
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| Institutions where data analyses were performed: Baylor College of Medicine, Houston, TX; University of Alabama at Birmingham; University of South Florida; University of Kansas Medical Center, Kansas City, KS, USA. |
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| Declaration of interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. |
Vol 123
P. 30-37 - octobre 2021 Retour au numéro
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