{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:53Z","timestamp":1790677373541,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T00:00:00Z","timestamp":1415059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Genzyme GmbH, Neu-Isenburg, Germany"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Respiratory muscle weakness is the major cause of early death in patients with adult Pompe disease. It first manifests as nocturnal hypercapnia, eventually leading to sleep disruption. Sleep\u2010related symptoms along with motor performance, forced vital capacity (<jats:styled-content style=\"fixed-case\">FVC<\/jats:styled-content>) and respiratory symptoms were investigated in 65 adult patients with Pompe disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients answered the Pittsburgh Sleep Quality Index (<jats:styled-content style=\"fixed-case\">PSQI<\/jats:styled-content>), the Epworth Sleepiness Scale, the Fatigue Severity Scale, the Rotterdam Nine\u2010item Handicap Scale, the <jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>\u201036 health\u2010related quality of life questionnaire, and a respiratory symptom questionnaire. In all patients, the 6\u2010min walk test was performed and <jats:styled-content style=\"fixed-case\">FVC<\/jats:styled-content> was obtained. Polysomnography and oxycapnometry results were available in 31 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixty patients received enzyme replacement therapy, and 32 individuals were on home ventilatory support. Reduced sleep quality was highly prevalent (<jats:styled-content style=\"fixed-case\">PSQI<\/jats:styled-content>\u00a0&gt;\u00a05; 43.1%) and correlated with both excessive daytime sleepiness (Epworth Sleepiness Scale\u00a0&gt;\u00a010; 24.6%) and fatigue (Fatigue Severity Scale\u00a0&gt;\u00a04; 72.3%). The <jats:styled-content style=\"fixed-case\">SF<\/jats:styled-content>\u201036 health\u2010related quality of life questionnaire was reduced in the physical domains, and was inversely correlated with sleep quality, <jats:styled-content style=\"fixed-case\">FVC<\/jats:styled-content> and motor performance. In 11 out of 17 non\u2010ventilated patients with polysomnography records, sleep\u2010disordered breathing was present, and duration of nocturnal oxygen desaturation (SaO<jats:sub>2<\/jats:sub>\u00a0&lt;\u00a090%) was significantly correlated to the <jats:styled-content style=\"fixed-case\">PSQI<\/jats:styled-content> global score.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In adult Pompe disease, sleep disturbances are a common cause of excessive daytime sleepiness and fatigue. Sleep\u2010related symptoms may be indicative of respiratory muscle weakness and should give rise to further work\u2010up of sleep\u2010disordered breathing.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12582","type":"journal-article","created":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T11:11:33Z","timestamp":1415099493000},"page":"369","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Sleep\u2010related symptoms and sleep\u2010disordered breathing in adult <scp>P<\/scp>ompe disease"],"prefix":"10.1111","volume":"22","author":[{"given":"M.","family":"Boentert","sequence":"first","affiliation":[{"name":"Department of Sleep Medicine and Neuromuscular Disorders University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Karabul","sequence":"additional","affiliation":[{"name":"Center for Pediatric and Adolescent Medicine University Medical 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