Olivia J Veatch1, Beth A Malow2, Hye-Seung Lee3, Aryn Knight4, Judy O Barrish5, Jeffrey L Neul6, Jane B Lane7, Steven A Skinner8, Walter E Kaufmann9, Jennifer L Miller10, Daniel J Driscoll10, Lynne M Bird11, Merlin G Butler12, Elisabeth M Dykens13, June-Anne Gold14, Virginia Kimonis14, Carlos A Bacino5, Wen-Hann Tan15, Sanjeev V Kothare16, Sarika U Peters17, Alan K Percy7, Daniel G Glaze5. 1. Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas. Electronic address: oveatch@kumc.edu. 2. Departments of Pediatrics and Neurology, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee. 3. Department of Pediatrics, University of South Florida, Tampa, Florida. 4. Center for Clinical Research, Texas Heart Institute, Houston, Texas. 5. Departments of Pediatrics and Neurology, Baylor College of Medicine, Houston, Texas. 6. Vanderbilt Kennedy Center, Departments of Pediatrics, Pharmacology, and Special Education, Vanderbilt University Medical Center, Nashville, Tennessee. 7. University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama; University of Alabama at Birmingham, Civitan International Research Center, Birmingham, Alabama. 8. Greenwood Genetic Center, Greenwood, South Carolina. 9. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. 10. Department of Pediatrics, University of Florida, Gainesville, Florida. 11. Division of Genetics and Dysmorphology, Department of Pediatrics, University of California San Diego/Rady Children's Hospital, San Diego, California. 12. Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas. 13. Departments of Pediatrics and Special Education, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee. 14. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California. 15. Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts. 16. Pediatric Sleep Program, Cohen Children's Medical Center, New Hyde Park, New York. 17. Departments of Pediatrics and Psychiatry & Behavioral Sciences, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.
Abstract
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.
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.
Authors: Korwyn Williams; Ann Scheimann; Vernon Sutton; Elizabeth Hayslett; Daniel G Glaze Journal: J Clin Sleep Med Date: 2008-04-15 Impact factor: 4.062
Authors: Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy Journal: Ann Neurol Date: 2010-12 Impact factor: 10.422