Amee Revana , E. Robert Wassman , Niva Haber , Lara C. Pullen , Terry Jo Bichell , Jessica Duis , Randy Bartlett , Christopher DeFelice , Maria Picone
{"title":"倾听患者的心声普拉德-威利综合征患者睡眠障碍的发生率和分布情况","authors":"Amee Revana , E. Robert Wassman , Niva Haber , Lara C. Pullen , Terry Jo Bichell , Jessica Duis , Randy Bartlett , Christopher DeFelice , Maria Picone","doi":"10.1016/j.sleepe.2024.100101","DOIUrl":null,"url":null,"abstract":"<div><div>While the medical community continues to recognize the contributions of disordered sleep to the burden of Prader-Willi syndrome (PWS), the medical literature lacks characterization of the patient burden of sleep disorders by people living with PWS and their caregivers. We developed and fielded a 72-question survey to the online PWS community, to query caregivers about their experiences with sleep symptoms. Respondents for all age groups reported sleep-disordered breathing (40 %), cataplexy-like symptoms (28.4 %), and insomnia (43.5 %). The presentation of cataplexy-like symptoms tended to change as children aged, presenting initially (ages 0–4 years) as head bobbing while eating, then transitioning to knee buckling between the ages of 5–12 years. Finally, loss of generalized tone associated with extreme emotions became more common in the teenage years. Frequent screening for potentially treatable sleep disorders should be considered the standard of care for individuals with PWS.</div></div>","PeriodicalId":74809,"journal":{"name":"Sleep epidemiology","volume":"4 ","pages":"Article 100101"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Listening to patients: Incidence and distribution of sleep disorders in Prader-Willi syndrome\",\"authors\":\"Amee Revana , E. Robert Wassman , Niva Haber , Lara C. Pullen , Terry Jo Bichell , Jessica Duis , Randy Bartlett , Christopher DeFelice , Maria Picone\",\"doi\":\"10.1016/j.sleepe.2024.100101\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>While the medical community continues to recognize the contributions of disordered sleep to the burden of Prader-Willi syndrome (PWS), the medical literature lacks characterization of the patient burden of sleep disorders by people living with PWS and their caregivers. We developed and fielded a 72-question survey to the online PWS community, to query caregivers about their experiences with sleep symptoms. Respondents for all age groups reported sleep-disordered breathing (40 %), cataplexy-like symptoms (28.4 %), and insomnia (43.5 %). The presentation of cataplexy-like symptoms tended to change as children aged, presenting initially (ages 0–4 years) as head bobbing while eating, then transitioning to knee buckling between the ages of 5–12 years. Finally, loss of generalized tone associated with extreme emotions became more common in the teenage years. Frequent screening for potentially treatable sleep disorders should be considered the standard of care for individuals with PWS.</div></div>\",\"PeriodicalId\":74809,\"journal\":{\"name\":\"Sleep epidemiology\",\"volume\":\"4 \",\"pages\":\"Article 100101\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sleep epidemiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2667343624000271\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sleep epidemiology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2667343624000271","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Listening to patients: Incidence and distribution of sleep disorders in Prader-Willi syndrome
While the medical community continues to recognize the contributions of disordered sleep to the burden of Prader-Willi syndrome (PWS), the medical literature lacks characterization of the patient burden of sleep disorders by people living with PWS and their caregivers. We developed and fielded a 72-question survey to the online PWS community, to query caregivers about their experiences with sleep symptoms. Respondents for all age groups reported sleep-disordered breathing (40 %), cataplexy-like symptoms (28.4 %), and insomnia (43.5 %). The presentation of cataplexy-like symptoms tended to change as children aged, presenting initially (ages 0–4 years) as head bobbing while eating, then transitioning to knee buckling between the ages of 5–12 years. Finally, loss of generalized tone associated with extreme emotions became more common in the teenage years. Frequent screening for potentially treatable sleep disorders should be considered the standard of care for individuals with PWS.