{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:37:08Z","timestamp":1793320628932,"version":"4.5.0"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"The International Foundation for CDKL5 Research"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13023-016-0563-3","type":"journal-article","created":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T08:26:52Z","timestamp":1484814412000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life"],"prefix":"10.1186","volume":"12","author":[{"given":"Yuka","family":"Mori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Downs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kingsley","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Epstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6405-5834","authenticated-orcid":false,"given":"Helen","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,1,19]]},"reference":[{"key":"563_CR1","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1086\/426462","volume":"75","author":"L Weaving","year":"2004","unstructured":"Weaving L, Christodoulou J, Williamson S, Friend K, McKenzie O, Archer H, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75:1079\u201393.","journal-title":"Am J Hum Genet"},{"key":"563_CR2","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","volume":"72","author":"V Kalsheuer","year":"2003","unstructured":"Kalsheuer V, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, et al. Disruption of the serine\/threonine kinase 9 gene causes Dever X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003;72:1401\u201311.","journal-title":"Am J Hum Genet"},{"key":"563_CR3","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/sj.ejhg.5201451","volume":"13","author":"J Evans","year":"2005","unstructured":"Evans J, Archer H, Colley J, Ravn K, Nielsen J, Kerr A, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005;13:1113\u201320.","journal-title":"Eur J Hum Genet"},{"key":"563_CR4","doi-asserted-by":"crossref","unstructured":"Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013;21:266\u201373.","DOI":"10.1038\/ejhg.2012.156"},{"issue":"12","key":"563_CR5","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1111\/j.1528-1167.2012.03656.x","volume":"53","author":"R Guerrini","year":"2012","unstructured":"Guerrini R, Parrini E. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia. 2012;53(12):2067\u201378.","journal-title":"Epilepsia"},{"key":"563_CR6","doi-asserted-by":"crossref","unstructured":"Mangatt M, Wong K, Anderson B, Epstein A, Hodgetts S, Leonard H, et al. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis. 2016;11:39.","DOI":"10.1186\/s13023-016-0418-y"},{"key":"563_CR7","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1212\/WNL.0000000000003352","volume":"87","author":"S Fehr","year":"2016","unstructured":"Fehr S, Wong K, Chin R, Williams S, de Klerk N, Forbes D, et al. Seizure variabiles and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology. 2016;87:2206\u201313.","journal-title":"Neurology"},{"key":"563_CR8","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1866-1955-7-2","volume":"7","author":"S Fehr","year":"2015","unstructured":"Fehr S, Leonard H, Ho G, Williams S, Klerk N, Forbes D, et al. There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 2015;7:2.","journal-title":"J Neurodev Disord"},{"issue":"1","key":"563_CR9","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1469-7610.2010.02295.x","volume":"52","author":"V Totsika","year":"2011","unstructured":"Totsika V, Hastings R, Emerson E, Lancaster G, Berridge D. A population-based investigation of behavioural and emotional problems and maternal mental stress: associations with autism spectrum disorder and intellectual disability. J Child Psychol Psychiatry. 2011;52(1):91\u20139.","journal-title":"J Child Psychol Psychiatry"},{"key":"563_CR10","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1007\/s10803-012-1693-7","volume":"43","author":"B Zablotsky","year":"2013","unstructured":"Zablotsky B, Bradshaw C, Stuart E. The association between mental health, stress, and coping supports in mothers of children with autism spectrum disorders. J Autism Dev Disord. 2013;43:1380\u201393.","journal-title":"J Autism Dev Disord"},{"key":"563_CR11","doi-asserted-by":"crossref","unstructured":"Bourke J, Ricciardo B, Bebbington A, Aiberti K, Jacoby P, Dyke P, et al. Physical and mental health in mothers of children with Down syndrome. J Pediatr. 2008;153:320\u20136.","DOI":"10.1016\/j.jpeds.2008.02.047"},{"key":"563_CR12","doi-asserted-by":"crossref","first-page":"e1152","DOI":"10.1542\/peds.2006-0439","volume":"118","author":"C Laurvick","year":"2006","unstructured":"Laurvick C, Msall M, Silburn S, Bower C, de Klerk N, Leonard H. Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics. 2006;118:e1152\u201364.","journal-title":"Pediatrics"},{"key":"563_CR13","doi-asserted-by":"crossref","first-page":"2939","DOI":"10.1007\/s10803-015-2457-y","volume":"45","author":"R Cianfaglione","year":"2015","unstructured":"Cianfaglione R, Hastings R, Felce D, Clarke A, Kerr M. Psychological well-being of mothers and siblings in families of girls and women with Rett syndrome. J Autism Dev Disord. 2015;45:2939\u201346.","journal-title":"J Autism Dev Disord"},{"key":"563_CR14","first-page":"974","volume":"167A","author":"T Tvrdik","year":"2014","unstructured":"Tvrdik T, Mason D, Dent K, Thornton L, Hornton S, Viskochil D, et al. Stress and coping in parents of children with Prader-Willi syndrome: assessment of the impact of a structured plan of care. Am J Med Genet. 2014;167A:974\u201382.","journal-title":"Am J Med Genet"},{"key":"563_CR15","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1016\/j.ridd.2012.06.014","volume":"33","author":"E Gardiner","year":"2012","unstructured":"Gardiner E, Iarocci G. Unhappy (and happy) in their own way: a developmental psychopathology perspective on quality of life for families living with developmental disability with and without autism. Res Dev Disabil. 2012;33:2177\u201392.","journal-title":"Res Dev Disabil"},{"issue":"2","key":"563_CR16","first-page":"161","volume":"6","author":"N Zuna","year":"2014","unstructured":"Zuna N, Brown I, Brown R. Family quality of life in intellectual and developmental disabilities: a support-based framework. Int J Public Health. 2014;6(2):161\u201384.","journal-title":"Int J Public Health"},{"key":"563_CR17","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/cge.12629","volume":"89","author":"A Tibben","year":"2016","unstructured":"Tibben A. Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life. Clin Genet. 2016;89:258\u201366.","journal-title":"Clin Genet"},{"key":"563_CR18","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.rasd.2008.12.004","volume":"3","author":"S Louise","year":"2009","unstructured":"Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, et al. InterRett, a model for international data collection in a rare genetic disorder. Res Autism Spect Dis. 2009;3:639\u201359.","journal-title":"Res Autism Spect Dis"},{"key":"563_CR19","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1365-2869.1996.00251.x","volume":"5","author":"O Bruni","year":"1996","unstructured":"Bruni O, Ottaviano S, Guidetti V, Romoli M, Innocenzi M, Cortesi F, et al. The sleep disturbance scale for children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. J Sleep Res. 1996;5:251\u201361.","journal-title":"J Sleep Res"},{"key":"563_CR20","volume-title":"How to score version 2 of the SF-12 health survey (with a supplement documenting version 1)","author":"J Ware","year":"2004","unstructured":"Ware J, Kosinski M, Turner-Bowker D, Gandek B. How to score version 2 of the SF-12 health survey (with a supplement documenting version 1). Licoln, Rhode Island: QualityMetric Incorporated; 2004."},{"issue":"1","key":"563_CR21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2788.2011.01486.x","volume":"56","author":"P Samuel","year":"2012","unstructured":"Samuel P, Rillotta F, Brown I. Review: the development of family quality of life concepts and measures. J Intellect Disabil Res. 2012;56(1):1\u201316.","journal-title":"J Intellect Disabil Res"},{"key":"563_CR22","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1111\/j.1741-3737.2006.00314.x","volume":"68","author":"L Hoffman","year":"2006","unstructured":"Hoffman L, Marquis J, Poston D, Summers J, Turnbull A. Assessing family outcomes: psychometric evaluation of the beach center family quality of life scale. J Marriage Fam. 2006;68:1069\u201383.","journal-title":"J Marriage Fam"},{"key":"563_CR23","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1016\/j.ridd.2012.04.011","volume":"33","author":"H Bourke-Taylor","year":"2012","unstructured":"Bourke-Taylor H, Pallant J, Law M, Howie L. Predicting mental health among mothers of school-aged children with developmental disabilities: the relative contribution of child, maternal and environmental factors. Res Dev Disabil. 2012;33:1732\u201340.","journal-title":"Res Dev Disabil"},{"key":"563_CR24","doi-asserted-by":"crossref","first-page":"4255","DOI":"10.1016\/j.ridd.2013.09.008","volume":"34","author":"J Lee","year":"2013","unstructured":"Lee J. Maternal stress, well-being, and impaired sleep in mothers of children with developmental disabilities: a liternature review. Res Dev Disabil. 2013;34:4255\u201373.","journal-title":"Res Dev Disabil"},{"key":"563_CR25","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1016\/j.ridd.2009.07.007","volume":"30","author":"J Chu","year":"2009","unstructured":"Chu J, Richdale A. Sleep quality and psychological wellbeing in mothers of children with developmental disabilities. Res Dev Disabil. 2009;30:1512\u201322.","journal-title":"Res Dev Disabil"},{"key":"563_CR26","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1111\/jpc.12254","volume":"49","author":"H Bourke-Taylor","year":"2013","unstructured":"Bourke-Taylor H, Pallant J, Law M, Howie L. Relationships between sleep disruptions, health and care responsibilities among mothers of school-aged children with disabilities. J Paediatr Child Health. 2013;49:775\u201382.","journal-title":"J Paediatr Child Health"},{"key":"563_CR27","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1007\/s10803-012-1639-0","volume":"43","author":"D Hodge","year":"2013","unstructured":"Hodge D, Hoffman C, Sweeney D, Riggs M. Relationship between children\u2019s sleep and mental health in mothers with and without autism. J Autism Dev Disord. 2013;43:956\u201363.","journal-title":"J Autism Dev Disord"},{"key":"563_CR28","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1111\/j.1651-2227.2012.02603.x","volume":"101","author":"S Wayte","year":"2012","unstructured":"Wayte S, McCaughey E, Holley S, Annaz D, Hill C. Sleep problems in children with cerebral palsy and their relationship with maternal sleep and depression. Acta Paediatr. 2012;101:618\u201323.","journal-title":"Acta Paediatr"},{"issue":"6","key":"563_CR29","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1111\/jir.12160","volume":"59","author":"P Minnes","year":"2015","unstructured":"Minnes P, Perry A, Weiss J. Predictors of distress and well-being in parents of young children with developmental delays and disabilities: the importance of parent perceptions. J Intellect Disabil Res. 2015;59(6):551\u201360.","journal-title":"J Intellect Disabil Res"},{"issue":"28","key":"563_CR30","doi-asserted-by":"crossref","first-page":"e328","DOI":"10.1097\/MD.0000000000000328","volume":"93","author":"J Downs","year":"2014","unstructured":"Downs J, Wong K, Ravikumara M, Ellaway C, Elliot E, Christodoulou J, et al. Experience of gastrostomy using a quality care framework: the example of Rett syndrome. Medicine. 2014;93(28):e328.","journal-title":"Medicine"},{"key":"563_CR31","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.pedn.2011.01.032","volume":"27","author":"M Wilken","year":"2012","unstructured":"Wilken M. The impact of child tube feeding on maternal emotional state and identity: a qualitative meta-analysis. J Pediatr Nurs. 2012;27:248\u201355.","journal-title":"J Pediatr Nurs"},{"issue":"5","key":"563_CR32","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/j.1365-2214.2007.00748.x","volume":"33","author":"A Brotherton","year":"2007","unstructured":"Brotherton A, Abbott J, Aggett P. The impact of percutaneous endoscopic gastrostomy feeding in children; the parental perspective. Child Care Health Dev. 2007;33(5):539\u201346.","journal-title":"Child Care Health Dev"},{"key":"563_CR33","doi-asserted-by":"crossref","first-page":"e1471","DOI":"10.1542\/peds.2010-3007","volume":"127","author":"S Mahant","year":"2011","unstructured":"Mahant S, Jovcevska V, Cohen E. Decision-making around gastrostomy-feeding in children with neurologic disabilities. Pediatrics. 2011;127:e1471.","journal-title":"Pediatrics"},{"key":"563_CR34","doi-asserted-by":"crossref","first-page":"e140","DOI":"10.1542\/peds.2014-4162","volume":"136","author":"K Nelson","year":"2015","unstructured":"Nelson K, Lacombe-Duncan A, Cohen E, Nicholas D, Rosella L, Guttmann A, et al. Family experiences with feeding tubes in neurologic impairment: a systematic review. Pediatrics. 2015;136:e140\u201351.","journal-title":"Pediatrics"},{"key":"563_CR35","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.ejpn.2015.09.001","volume":"20","author":"A Muller","year":"2016","unstructured":"Muller A, Helbig I, Jansen C, Bast T, Guerrini R, Jahn J, et al. Retrospectie evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy. Eur J Paediatr Neurol. 2016;20:147\u201351.","journal-title":"Eur J Paediatr Neurol"},{"key":"563_CR36","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1111\/j.1469-8749.2004.tb00443.x","volume":"46","author":"P Sullivan","year":"2004","unstructured":"Sullivan P, Juszczak E, Bachlet A, Lambert B, Vernon-Roberts A, Grant H, et al. Impact of gastrostomy tube feeding on the quality of life of cares of children with cerebral palsy. Dev Med Child Neurol. 2004;46:796\u2013800.","journal-title":"Dev Med Child Neurol"},{"key":"563_CR37","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/s10882-010-9190-4","volume":"22","author":"J Strunk","year":"2010","unstructured":"Strunk J. Respite care for families of special needs children: a systematic review. J Dev Phys Disabil. 2010;22:615\u201330.","journal-title":"J Dev Phys Disabil"},{"key":"563_CR38","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1007\/s10803-009-0912-3","volume":"40","author":"M Sawyer","year":"2010","unstructured":"Sawyer M, Bittman M, Greca A, Crettenden A, Harchak T, Martin J. Time demands of caring for children with autism: what are the implications for maternal mental health? J Autism Dev Disord. 2010;40:620\u20138.","journal-title":"J Autism Dev Disord"},{"issue":"12","key":"563_CR39","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1002\/jclp.20634","volume":"65","author":"A Carter","year":"2009","unstructured":"Carter A, Martinez-Pedraza F, Gray S. Stability and individual change in depressive symptoms among mothers raising young children with ASD: maternal and child correlates. J Clin Psychol. 2009;65(12):1270\u201380.","journal-title":"J Clin Psychol"},{"key":"563_CR40","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1016\/j.rasd.2010.08.006","volume":"5","author":"A Urbanowicz","year":"2011","unstructured":"Urbanowicz A, Downs J, Bebbington A, Jacoby P, Girder S, Leonard H. Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome. Res Autism Spectr Disord. 2011;5:722\u201332.","journal-title":"Res Autism Spectr Disord"},{"issue":"5","key":"563_CR41","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1352\/1944-7558-120.5.395","volume":"120","author":"T Boehm","year":"2015","unstructured":"Boehm T, Carter E, Taylor J. Family quality of life during the transition to adulthood for individuals with intellectual difficulty and\/or autism spectrum disorders. Am J Intellect Dev Disabil. 2015;120(5):395\u2013411.","journal-title":"Am J Intellect Dev Disabil"},{"key":"563_CR42","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.pedn.2014.09.013","volume":"30","author":"A Glenn","year":"2015","unstructured":"Glenn A. Using online health communication to manage chronic sorrow: mothers of children with rare diseases speak. J Pediatr Nurs. 2015;30:17\u201324.","journal-title":"J Pediatr Nurs"},{"key":"563_CR43","doi-asserted-by":"crossref","first-page":"e903","DOI":"10.1542\/peds.2014-1839","volume":"134","author":"J Moeschler","year":"2014","unstructured":"Moeschler J, Shevell M. Genetics Co. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134:e903\u201318.","journal-title":"Pediatrics"},{"key":"563_CR44","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1600-0404.2009.01184.x","volume":"120","author":"R Lv","year":"2009","unstructured":"Lv R, Wu L, Jin L, Lu Q, Wang M, Qu Y, et al. Depression, auxiety and quality of life in parents of children with epilepsy. Acta Neurol Scand. 2009;120:335\u201341.","journal-title":"Acta Neurol Scand"},{"key":"563_CR45","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.eplepsyres.2011.03.020","volume":"95","author":"A Akay","year":"2011","unstructured":"Akay A, Kurul S, Ozek H, Cengizhan S, Emiroglu N, Ellidokuz H. Maternal reactions to a child with epilepsy: depression, anxiety, parental attitudes and family functions. Epilepsy Res. 2011;95:213\u201320.","journal-title":"Epilepsy Res"},{"key":"563_CR46","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1600-0404.2005.00567.x","volume":"113","author":"L Young","year":"2006","unstructured":"Young L, Chengye J, Jiong Q. Factors affecting the quality of life in childhood epilepsy in China. Acta Neurol Scand. 2006;113:167\u201373.","journal-title":"Acta Neurol Scand"},{"key":"563_CR47","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.yebeh.2014.11.030","volume":"43","author":"V Kerne","year":"2015","unstructured":"Kerne V, Chapieski L. Adaptive functioning in pediatric epilepsy: contributions of seizure-related variables and parental anxiety. Epilepsy Behav. 2015;43:48\u201352.","journal-title":"Epilepsy Behav"},{"key":"563_CR48","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/S1525-5050(03)00159-8","volume":"4","author":"J Williams","year":"2003","unstructured":"Williams J, Steel C, Sharp G, DelosReyes E, Phillips T, Bates S, et al. Parental anxiety and quality of life in children with epilepsy. Epilepsy Behav. 2003;4:483\u20136.","journal-title":"Epilepsy Behav"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-016-0563-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T04:36:32Z","timestamp":1498365392000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-016-0563-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,19]]},"references-count":48,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["563"],"URL":"https:\/\/doi.org\/10.1186\/s13023-016-0563-3","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,19]]},"article-number":"16"}}