{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:08:50Z","timestamp":1780528130443,"version":"3.54.1"},"reference-count":39,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This study aimed to examine sociodemographic characteristics, comorbid medical conditions, sleep problems, and their impact on quality of life (QoL) in Turkish children with Rett Syndrome (RTT) and their caregivers. A secondary aim was to explore how these features vary by age group: early (0\u20135), middle (6\u201311), and late childhood (12\u201318 years).<\/jats:p>\n                  <jats:p>In this cross-sectional study, 74 children with RTT and their caregivers completed standardized online questionnaires. QoL and sleep were assessed using the PedsQL and Children's Sleep Habits Questionnaire. Participants were grouped by age to examine developmental differences.<\/jats:p>\n                  <jats:p>Only 37.8% of the children had developed speech, and most later lost this ability. Independent walking was reported in 43.2%. Epilepsy (71.6%) and gastrointestinal symptoms (56.8%) were common. Parasomnia symptoms significantly more common in the 0 to 5 age group (p\u2009=\u20090.039). Emotional functioning was lower in younger children (p\u2009=\u20090.022). Poor sleep quality was associated with worse family relations (p\u2009=\u20090.032).<\/jats:p>\n                  <jats:p>Younger children with RTT experience more emotional and sleep problems. Sleep quality is closely tied to family well-being, suggesting that interventions should address sleep in both children and caregivers.<\/jats:p>","DOI":"10.1055\/a-2816-9612","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T00:06:41Z","timestamp":1771891601000},"page":"200-207","source":"Crossref","is-referenced-by-count":0,"title":["Sociodemographic Profiles and Age-Related Differences in Comorbidities, Sleep, and Quality of Life of Turkish Children with Rett Syndrome and their Families"],"prefix":"10.1055","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2976-7112","authenticated-orcid":false,"given":"Ayfer","family":"Ardu\u00e7 Ak\u00e7ay","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Ko\u00e7 University School of Medicine, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7806-6630","authenticated-orcid":false,"given":"Gaye","family":"T\u00fcrkmen Noyan","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, \u00dcmraniye Training and Research Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2025-4353","authenticated-orcid":false,"given":"\u0130lay","family":"\u00c7al\u0131\u015fkan","sequence":"additional","affiliation":[{"name":"Ko\u00e7 University School of Medicine, Istanbul, Turkey"},{"name":"Division of Neuropathology, Department of Pathology, University of California, San Francisco, San Francisco, California, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0624-4386","authenticated-orcid":false,"given":"Belgin","family":"Konak\u00e7\u0131","sequence":"additional","affiliation":[{"name":"Ko\u00e7 University Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidar","family":"Copur","sequence":"additional","affiliation":[{"name":"Ko\u00e7 University School of Medicine, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6873-8234","authenticated-orcid":false,"given":"Tuba","family":"Mutluer","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Akdeniz University School of Medicine, Antalya, Turkey"},{"name":"Ko\u00e7 University Graduate School of Health Sciences, Neuroscience PhD Program, Istanbul, 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Neurol"},{"issue":"20","key":"ref4","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1212\/WNL.0b013e3182377dd2","article-title":"Clinical severity and quality of life in children and adolescents with Rett syndrome","volume":"77","author":"J B Lane","year":"2011","journal-title":"Neurology"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"R E Amir","year":"1999","journal-title":"Nat Genet"},{"issue":"03","key":"ref6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.neuron.2007.10.001","article-title":"The story of Rett syndrome: from clinic to neurobiology","volume":"56","author":"M Chahrour","year":"2007","journal-title":"Neuron"},{"issue":"01","key":"ref7","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.b.32707","article-title":"The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2","volume":"180","author":"J L Neul","year":"2019","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"03","key":"ref8","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ejhg.2012.156","article-title":"The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy","volume":"21","author":"S Fehr","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"09","key":"ref9","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1002\/ajmg.a.37132","article-title":"Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome","volume":"167A","author":"H E Olson","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"06","key":"ref10","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1002\/ana.22154","article-title":"Rett syndrome diagnostic criteria: lessons from the Natural History Study","volume":"68","author":"A K Percy","year":"2010","journal-title":"Ann Neurol"},{"issue":"01","key":"ref11","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1186\/s13023-022-02519-y","article-title":"Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale","volume":"17","author":"R A Fabio","year":"2022","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"ref12","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1212\/WNL.0b013e3181d6b852","article-title":"Epilepsy and the natural history of Rett syndrome","volume":"74","author":"D G Glaze","year":"2010","journal-title":"Neurology"},{"issue":"03","key":"ref13","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1097\/MPG.0b013e31824b6159","article-title":"Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome","volume":"55","author":"K J 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Ge\u00e7erlilik ve G\u00fcvenilirlik \u00c7al\u0131\u015fmas\u0131","volume":"16","author":"S S\u00f6nmez","year":"2007","journal-title":"Turkiye Klinikleri Journal of Pediatrics."},{"issue":"08","key":"ref32","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1093\/sleep\/23.8.1d","article-title":"The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children","volume":"23","author":"J A Owens","year":"2000","journal-title":"Sleep"},{"issue":"02","key":"ref33","first-page":"151","article-title":"The validity and the reliability of Turkish Version of Children's Sleep Habits Questionnaire","volume":"11","author":"N P Fi\u015f","year":"2010","journal-title":"AP"},{"issue":"02","key":"ref34","doi-asserted-by":"crossref","first-page":"175","DOI":"10.3758\/BF03193146","article-title":"G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences","volume":"39","author":"F Faul","year":"2007","journal-title":"Behav Res Methods"},{"issue":"04","key":"ref35","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","article-title":"A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases","volume":"14","author":"B Hagberg","year":"1983","journal-title":"Ann Neurol"},{"issue":"10","key":"ref36","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1111\/j.1469-8749.2000.tb00678.x","article-title":"Prevalence and severity of feeding and nutritional problems in children with neurological impairment: Oxford Feeding Study","volume":"42","author":"P B Sullivan","year":"2000","journal-title":"Dev Med Child Neurol"},{"issue":"04","key":"ref37","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1111\/j.1469-8749.1993.tb11646.x","article-title":"Emotional and behavioural aspects of Rett syndrome","volume":"35","author":"D Sansom","year":"1993","journal-title":"Dev Med Child Neurol"},{"issue":"01","key":"ref38","first-page":"6302","article-title":"The quality of life in girls with Rett syndrome","volume":"8","author":"L Parisi","year":"2016","journal-title":"Ment Illn"},{"issue":"06","key":"ref39","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1111\/j.1365-2788.2011.01499.x","article-title":"Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress","volume":"56","author":"S E Goldman","year":"2012","journal-title":"J Intellect Disabil Res"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2816-9612.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:39:22Z","timestamp":1780526362000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2816-9612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,23]]},"references-count":39,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2026,6,3]]},"published-print":{"date-parts":[[2026,6]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2816-9612","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,2,23]]},"published":{"date-parts":[[2026,2,23]]}}}