{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:38:11Z","timestamp":1791409091699,"version":"4.3.3"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T00:00:00Z","timestamp":1735516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Sleep Research"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>This study aimed to improve our understanding of sleep problems as a comorbidity of hereditary deaf\u2013blindness due to Usher syndrome type 2a. Fifteen patients with Usher syndrome type 2a with a conclusive genetic diagnosis and 15 unaffected controls participated in comprehensive sleep and activity assessments for 2\u2009weeks, using the MotionWatch 8 actigraph and consensus sleep diary. Various sleep parameters including sleep opportunity window, sleep latency, sleep efficiency, and self\u2010reported sleep quality were analysed. Non\u2010parametric circadian rhythm analysis was performed to evaluate circadian rhythmicity. Additionally, regression analyses were conducted to study potential correlations between sleep parameters and patients' demographics and disease progression. Patients with Usher syndrome type 2a exhibited significantly longer sleep latency and lower self\u2010reported sleep and rest quality compared with controls. Additionally, day\u2010to\u2010day variability of sleep efficiency and sleep latency were significantly higher in the patient population. Non\u2010parametric circadian rhythm analysis revealed no significant differences in circadian rhythmicity. Regression analyses indicated that having Usher syndrome type 2a was a significant predictor of poor sleep outcomes. No clear correlations were found between the level of visual impairment and sleep parameters, suggesting that the negative effects of Usher syndrome type 2a on sleep manifest independently of the progressive visual impairment. These findings suggest that, while circadian sleep\u2013wake rhythm remain intact, patients with Usher syndrome type 2a suffer from sleep disturbances that likely arise from factors beyond their progressive blindness. With sleep problems being a major risk factor for physical and mental health problems, we advocate that sleep problems should be recognized as a hallmark symptom of Usher syndrome type 2a, warranting in\u2010depth research for potential targeted therapeutic interventions.<\/jats:p>","DOI":"10.1111\/jsr.14456","type":"journal-article","created":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T23:13:26Z","timestamp":1735600406000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Actigraphy\u2010based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case\u2013control study"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5263-8482","authenticated-orcid":false,"given":"Jessie M.","family":"Hendricks","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour, Radboud University  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juriaan R.","family":"Metz","sequence":"additional","affiliation":[{"name":"Department of Plant &amp; Animal Biology Radboud Institute for Biological and Environmental Sciences, Radboud University  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Myrthe","family":"Boss","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Gelderse Vallei  Ede The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob W. J.","family":"Collin","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"de Vrieze","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5702-3460","authenticated-orcid":false,"given":"Erwin","family":"van Wijk","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,30]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.4274\/tjo.galenos.2022.59296"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleep.2016.07.021"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jad.2011.01.011"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/opx.0000000000001265"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000495045"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.5665\/sleep.1642"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0145482X1611000403"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/17482631.2020.1846671"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14170"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-018-0876-9"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xops.2023.100323"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.smrv.2018.10.006"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.7717\/peerj.4849"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/gerona\/glab214"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/15402000701557383"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/09291016.2010.500869"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3743"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-2457(02)00221-3"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0610950104"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.5665\/sleep.3142"},{"issue":"1","key":"e_1_2_11_22_1","article-title":"An update on the genetics of usher syndrome","volume":"2011","author":"Mill\u00e1n J. 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