{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T07:40:42Z","timestamp":1650440442735},"reference-count":25,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003This study explores the prevalence, clinical characteristics, and treatment of epilepsy and sleep disorders in \u03b1 thalassemia mental retardation (ATR-X) syndrome.<\/jats:p><jats:p>\n          Design\u2003In this cross-sectional study, 37 participants with ATR-X syndrome aged 1.8 to 44 years were studied using a customized epilepsy questionnaire, review of electroencephalography (EEG) findings, the modified Sleep Questionnaire of Simonds and Parraga and 2-week sleep diary.<\/jats:p><jats:p>\n          Results\u2003Eleven participants had a clinical diagnosis of generalized epilepsy (29.7%). Seizure types were generalized tonic-clonic seizures, absences, and myoclonia. Interictal EEG recordings in participants with GTCS showed no epileptic discharges in 78%. Similarly, EEG recordings during myoclonia and absences often demonstrated no epileptic discharges. Sleep problems (difficulty falling or maintaining sleep, and early awakening) were reported in 70%. Participants with reported sleep problems went to bed earlier (p\u2009=\u20090.027) and had a lower sleep efficiency (p\u2009&lt;\u20090.01) than participants without sleep problems, but as a group they both had a sufficient total sleep time (9\u2009hours and 52\u2009minutes vs. 10\u2009hours and 55\u2009minutes). Sixteen participants (43.2) used medication to improve sleep (predominantly melatonin n\u2009=\u200910), being effective in only two.<\/jats:p><jats:p>\n          Conclusion\u2003One-third of participants with ATR-X syndrome had a clinical diagnosis of epilepsy, but the absence of EEG abnormalities in suspected epileptic seizures questions this diagnosis in these patients. EEG recording during seizure like symptoms is warranted before making an epilepsy diagnosis. Seventy percent experienced sleep problems, although total sleep time was normal in most participants. Long bedtimes might have a negative influence on sleep efficiency.<\/jats:p>","DOI":"10.1055\/s-0041-1740551","type":"journal-article","created":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T23:39:46Z","timestamp":1640129986000},"page":"109-114","source":"Crossref","is-referenced-by-count":0,"title":["Epilepsy and Sleep in the ATR-X Syndrome"],"prefix":"10.1055","volume":"53","author":[{"given":"Petra van","family":"Mierlo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Academic Center for Epileptology Kempenhaeghe and Maastricht UMC\u2009+\u2009, Heeze, The Netherlands"},{"name":"Sleep Medicine Center; Kempenhaeghe, Heeze, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Braakman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Academic Center for Epileptology Kempenhaeghe and Maastricht UMC\u2009+\u2009, Heeze, The Netherlands"},{"name":"Department of Pediatric Neurology, Radboud University Medical Center and Donders Institute for Brain, Amalia Children\u0301s Hospital, Cognition and Behavior Nijmegen, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nele","family":"Vandenbussche","sequence":"additional","affiliation":[{"name":"Sleep Medicine Center; Kempenhaeghe, Heeze, The Netherlands"},{"name":"Department of Pediatrics, Noorderhart Mariaziekenhuis, Pelt, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helenius Jurgen","family":"Schelhaas","sequence":"additional","affiliation":[{"name":"Department of Neurology, Academic Center for Epileptology Kempenhaeghe and Maastricht UMC\u2009+\u2009, Heeze, The Netherlands"},{"name":"Department of Neurology, Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Pillen","sequence":"additional","affiliation":[{"name":"Pediatric Sleep Expert Ltd, Mook, 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Genet"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1136\/jmg.31.3.245","article-title":"X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype","volume":"31","author":"R Ogle","year":"1994","journal-title":"J Med Genet"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"146","DOI":"10.3346\/jkms.2011.26.1.146","article-title":"The first case of X-linked Alpha-thalassemia\/mental retardation (ATR-X) syndrome in Korea","volume":"26","author":"K W Yun","year":"2011","journal-title":"J Korean Med Sci"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.mgene.2013.09.004","article-title":"ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing","volume":"1","author":"S Moncini","year":"2013","journal-title":"Meta Gene"},{"issue":"11","key":"ref7","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1136\/jmg.28.11.742","article-title":"The non-deletion alpha thalassaemia\/mental retardation syndrome: further support for X linkage","volume":"28","author":"D Donnai","year":"1991","journal-title":"J Med Genet"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1055\/s-0039-1692141","article-title":"Epileptic encephalopathy, myoclonus-dystonia, and premature pubarche in siblings with a novel C-terminal truncating mutation in ATRX gene","volume":"50","author":"T Giacomini","year":"2019","journal-title":"Neuropediatrics"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A","article-title":"A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy","volume":"47","author":"R Guerrini","year":"2000","journal-title":"Ann Neurol"},{"issue":"03","key":"ref10","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ajmg.1320550309","article-title":"Clinical and hematologic aspects of the X-linked alpha-thalassemia\/mental retardation syndrome (ATR-X)","volume":"55","author":"R J Gibbons","year":"1995","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref11","first-page":"44","article-title":"A case of X-linked alpha-thalassemia\/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia","volume":"45","author":"Y Ebishima","year":"2013","journal-title":"No To Hattatsu"},{"issue":"02","key":"ref12","doi-asserted-by":"crossref","first-page":"287","DOI":"10.5665\/sleep.1642","article-title":"The consensus sleep diary: standardizing prospective sleep self-monitoring","volume":"35","author":"C E Carney","year":"2012","journal-title":"Sleep 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