{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:29:40Z","timestamp":1790321380182,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,11,14]],"date-time":"2012-11-14T00:00:00Z","timestamp":1352851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:p><jats:bold>Aim\u2002<\/jats:bold> In female children with drug\u2010resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the <jats:italic>CDKL5<\/jats:italic> gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with <jats:italic>CDKL5<\/jats:italic> mutations.<\/jats:p><jats:p><jats:bold>Method\u2002<\/jats:bold> In four genetically confirmed female patients with <jats:italic>CDKL5<\/jats:italic> mutations (age range 2\u201315y), the presence of breathing and sleep abnormalities was evaluated using the validated Sleep Disturbance Scale for Children and polysomnography (PSG).<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The Sleep Disturbance Scale for Children indicated disorders of initiating and maintaining sleep, daytime somnolence, and sleep breathing disorders. In one patient, PSG showed central apnoeas during sleep: her total apnoea\u2013hypopnoea index (AHI) was 4.9, of which the central AHI was 3.4\/h. When awake, central apnoeas were present in two of the four female children (central AHI 28\/h and 41\/h respectively), all preceded by hyperventilation. PSG showed low rapid eye movement (REM) sleep (9.7\u201318.3%), frequent awakenings, and low sleep efficiency (range 59\u201378%).<\/jats:p><jats:p><jats:bold>Interpretation\u2002<\/jats:bold> Episodic hyperventilation followed by central apnoeas was present while awake in two of four patients. This may indicate failure of brainstem respiratory centres. In addition, low REM sleep, frequent arousals (not caused by apnoeas\/seizures), and low sleep efficiency were present. Similar to Rett syndrome, in patients with <jats:italic>CDKL5<\/jats:italic> mutations PSG seems warranted to evaluate breathing and sleep disturbances.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04432.x","type":"journal-article","created":{"date-parts":[[2012,11,14]],"date-time":"2012-11-14T16:01:24Z","timestamp":1352908884000},"page":"480-484","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the <i>CDKL5<\/i> gene"],"prefix":"10.1111","volume":"55","author":[{"given":"EVELINE E O","family":"HAGEBEUK","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RENILDE A S","family":"VAN DEN BOSSCHE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AL W","family":"DE WEERD","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,14]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.06.009"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000291011.54508.aa"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/426462"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn197"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2010.02.014"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2869.1996.00251.x"},{"key":"e_1_2_7_9_2","first-page":"48","volume-title":"The American Academy of Sleep Medicine (AASM) Manual for the Scoring of Sleep and Associated Events","author":"Iber C","year":"2007"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1308856"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.9.1039"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.77.5.463c"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.2174\/092986706778201602"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/22.8.1101"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1995.tb00753.x"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2007.04.001"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00356-4"},{"key":"e_1_2_7_18_2","article-title":"Polysomnographic findings in Rett syndrome; a case\u2010control study","author":"Caratenuto M","year":"2012","journal-title":"Sleep Breath"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2012.04432.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2012.04432.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:14:49Z","timestamp":1697591689000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2012.04432.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,14]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1111\/j.1469-8749.2012.04432.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04432.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,14]]},"assertion":[{"value":"2012-11-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}