{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T09:45:30Z","timestamp":1793699130843,"version":"4.5.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T00:00:00Z","timestamp":1740614400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T00:00:00Z","timestamp":1740614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["10250022110003"],"award-info":[{"award-number":["10250022110003"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Disorder-related variants in the <jats:italic>STXBP1<\/jats:italic> gene are increasingly detected in children with severe developmental disorders. It is commonly acknowledged that developmental disorders significantly impact family life, but little is known about the day-to-day experiences of caregivers living with children with <jats:italic>STXBP1<\/jats:italic>-related disorders (<jats:italic>STXBP1<\/jats:italic>-RD). This knowledge gap may hinder researchers and care professionals from aligning research activities, care, and support with the perspectives of parents.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We conducted a semi-structured interview study to gain a better understanding of the impact of having a child with <jats:italic>STXBP1<\/jats:italic>-RD on daily family life. Interviews were audio-recorded, transcribed, and analyzed thematically. We developed an \u2018analytical framework based on verbs\u2019, as verbs signify action, to present our results on the experiences of parents in everyday life.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We conducted 16 interviews with 21 parents of children with <jats:italic>STXBP1<\/jats:italic>-RD (2 to 18 years old), living in the Netherlands. The respondents described their caregiving responsibilities as extremely intense and demanding. They reported being constantly occupied with caring for their child, and expressed a feeling of always being \u2018switched on\u2019. Parents\u2019 experiences are described using the following five verbs: (1) <jats:italic>caring<\/jats:italic> for their child, (2) <jats:italic>recognizing<\/jats:italic> their child\u2019s needs and having their child\u2019s needs recognized, (3) <jats:italic>searching<\/jats:italic> for answers and suitable care, (4) <jats:italic>balancing<\/jats:italic> delivering care while preserving other domains of life, and (5) <jats:italic>coping<\/jats:italic> with emotional impacts.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This study shows how parenting a child with <jats:italic>STXBP1<\/jats:italic>-RD involves continuous engagement with both child-related care responsibilities and other activities, such as arranging suitable care and coping with emotional impacts. The accumulation of these responsibilities and challenges significantly impacts the everyday lives of the entire family. To support <jats:italic>STXBP1<\/jats:italic> patient families, a broad approach is needed, focusing not only on developing new medical treatments, but also on improving other therapies (e.g., speech therapy or physiotherapy) and providing social support for the entire family, including emotional support, assistance with administrative tasks, and improved information provision after diagnosis.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-024-03314-7","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T12:40:51Z","timestamp":1740746451000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["\u2018You constantly have to be switched on\u2019: A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4891-9596","authenticated-orcid":false,"given":"Sietske A. L.","family":"van Till","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sybren","family":"Sybesma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilgo","family":"Bruining","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthijs","family":"Verhage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eline M.","family":"Bunnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,27]]},"reference":[{"issue":"4","key":"3314_CR1","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1093\/brain\/awaa051","volume":"143","author":"JA L\u00f3pez-Rivera","year":"2020","unstructured":"L\u00f3pez-Rivera JA, P\u00e9rez-Palma E, Symonds J, Lindy AS, McKnight DA, Leu C, et al. A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain. 2020;143(4):1099\u2013105. https:\/\/doi.org\/10.1093\/brain\/awaa051","journal-title":"Brain"},{"issue":"8","key":"3314_CR2","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1007\/s00431-017-2958-0","volume":"176","author":"UP Spindler","year":"2017","unstructured":"Spindler UP, Hotopp LC, Bach VA, Hornemann F, Syrbe S, Andreas A, et al. Seizure disorders and developmental disorders: impact on life of affected families-a structured interview. Eur J Pediatr. 2017;176(8):1121\u20139. https:\/\/doi.org\/10.1007\/s00431-017-2958-0","journal-title":"Eur J Pediatr"},{"issue":"4","key":"3314_CR3","doi-asserted-by":"publisher","first-page":"e37356","DOI":"10.7759\/cureus.37356","volume":"15","author":"SY Faden","year":"2023","unstructured":"Faden SY, Merdad N, Faden YA. Parents of children with neurodevelopmental disorders: a mixed methods approach to understanding quality of life, stress, and perceived social support. Cureus. 2023;15(4):e37356. https:\/\/doi.org\/10.7759\/cureus.37356","journal-title":"Cureus"},{"issue":"1","key":"3314_CR4","doi-asserted-by":"publisher","first-page":"1725362","DOI":"10.1080\/17482631.2020.1725362","volume":"15","author":"G Currie","year":"2020","unstructured":"Currie G, Szabo J. Social isolation and exclusion: the parents\u2019 experience of caring for children with rare neurodevelopmental disorders. Int J Qual Stud Health Well-being. 2020;15(1):1725362. https:\/\/doi.org\/10.1080\/17482631.2020.1725362","journal-title":"Int J Qual Stud Health Well-being"},{"issue":"6","key":"3314_CR5","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1080\/20473869.2022.2036919","volume":"69","author":"O M\u00faries-Cant\u00e1n","year":"2022","unstructured":"M\u00faries-Cant\u00e1n O, Schippers A, Gin\u00e9 C, Blom-Yoo H. Siblings of people with intellectual and developmental disabilities: a systematic review on their quality of life perceptions in the context of a family. Int J Dev Disabil. 2022;69(6):797\u2013810. https:\/\/doi.org\/10.1080\/20473869.2022.2036919","journal-title":"Int J Dev Disabil"},{"issue":"10","key":"3314_CR6","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1212\/WNL.0000000000002457","volume":"86","author":"H Stamberger","year":"2016","unstructured":"Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, et al. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954\u201362. https:\/\/doi.org\/10.1212\/WNL.0000000000002457","journal-title":"Neurology"},{"issue":"5","key":"3314_CR7","doi-asserted-by":"publisher","first-page":"1668","DOI":"10.1093\/brain\/awab327","volume":"145","author":"J Xian","year":"2022","unstructured":"Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, et al. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022;145(5):1668\u201383. https:\/\/doi.org\/10.1093\/brain\/awab327","journal-title":"Brain"},{"issue":"6","key":"3314_CR8","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1038\/ng.150","volume":"40","author":"H Saitsu","year":"2008","unstructured":"Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40(6):782\u20138. https:\/\/doi.org\/10.1038\/ng.150","journal-title":"Nat Genet"},{"issue":"1","key":"3314_CR9","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.neuron.2020.05.036","volume":"107","author":"M Verhage","year":"2020","unstructured":"Verhage M, S\u00f8rensen JB. SNAREopathies: diversity in mechanisms and symptoms. Neuron. 2020;107(1):22\u201337. https:\/\/doi.org\/10.1016\/j.neuron.2020.05.036.","journal-title":"Neuron"},{"issue":"3","key":"3314_CR10","doi-asserted-by":"publisher","first-page":"e221","DOI":"10.1212\/WNL.0000000000200715","volume":"99","author":"H Stamberger","year":"2022","unstructured":"Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, et al. Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood. Neurology. 2022;99(3):e221\u201333. https:\/\/doi.org\/10.1212\/WNL.0000000000200715","journal-title":"Neurology"},{"key":"3314_CR11","unstructured":"Son Ridby C. Updated incidence of STXBP1. https:\/\/www.stxbp1disorders.org\/blog\/updated-incidence-of-stxbp1. Accessed 14 Jan 2024."},{"issue":"2","key":"3314_CR12","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1111\/jnc.15120","volume":"157","author":"D Abramov","year":"2021","unstructured":"Abramov D, Guiberson NGL, Burr\u00e9 J. STXBP1 encephalopathies: clinical spectrum, disease mechanisms, and therapeutic strategies. J Neurochem. 2021;157(2):165\u201378. https:\/\/doi.org\/10.1111\/jnc.15120","journal-title":"J Neurochem"},{"key":"3314_CR13","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.pediatrneurol.2020.12.001","volume":"116","author":"N Morrison-Levy","year":"2021","unstructured":"Morrison-Levy N, Borlot F, Jain P, Whitney R. Early-onset developmental and epileptic encephalopathies of infancy: an overview of the genetic basis and clinical features. Pediatr Neurol. 2021;116:85\u201394. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2020.12.001","journal-title":"Pediatr Neurol"},{"key":"3314_CR14","unstructured":"The European STXBP1 Consortium. ESCO consortium. https:\/\/stxbp1eu.org\/ Accessed 13 Nov 2023."},{"key":"3314_CR15","unstructured":"STXBP1 disorders. STARR: The STXBP1 Natural History Study. https:\/\/www.stxbp1disorders.org\/starr Accessed 13 Nov 2023."},{"issue":"2","key":"3314_CR16","doi-asserted-by":"publisher","first-page":"390","DOI":"10.3390\/genes13020390","volume":"13","author":"L Geertjens","year":"2022","unstructured":"Geertjens L, van Voorst TW, Bouman A, van Boven MA, Kleefstra T, Verhage M, et al. Following excitation\/inhibition ratio homeostasis from synapse to EEG in monogenetic neurodevelopmental disorders. Genes (Basel). 2022;13(2):390. https:\/\/doi.org\/10.3390\/genes13020390","journal-title":"Genes (Basel)"},{"issue":"2","key":"3314_CR17","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1002\/epi4.12688","volume":"8","author":"KR Sullivan","year":"2023","unstructured":"Sullivan KR, Ruggiero SM, Xian J, Thalwitzer KM, Ali R, Stewart S, et al. A disease concept model for STXBP1-related disorders. Epilepsia open. 2023;8(2):320\u201333. https:\/\/doi.org\/10.1002\/epi4.12688","journal-title":"Epilepsia open"},{"issue":"6","key":"3314_CR18","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1093\/intqhc\/mzm042","volume":"19","author":"A Tong","year":"2007","unstructured":"Tong A, Sainsbury P, Craig J. Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care. 2007;19(6):349\u201357. https:\/\/doi.org\/10.1093\/intqhc\/mzm042","journal-title":"Int J Qual Health Care"},{"issue":"2","key":"3314_CR19","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1191\/1478088706qp063oa","volume":"3","author":"V Braun","year":"2006","unstructured":"Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol. 2006;3(2):77\u2013101. https:\/\/doi.org\/10.1191\/1478088706qp063oa","journal-title":"Qual Res Psychol"},{"issue":"1","key":"3314_CR20","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1186\/s13023-022-02525-0","volume":"17","author":"C Von der Lippe","year":"2022","unstructured":"Von der Lippe C, Neteland I, Feragen KB. Children with a rare congenital genetic disorder: a systematic review of parent experiences. Orphanet J Rare Dis. 2022;17(1):375. https:\/\/doi.org\/10.1186\/s13023-022-02525-0","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"3314_CR21","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1007\/s10897-016-9958-5","volume":"25","author":"L Krabbenborg","year":"2016","unstructured":"Krabbenborg L, Vissers LELM, Schieving J, Kleefstra T, Kamsteeg EJ, Veltman JA, et al. Understanding the psychosocial effects of WES test results on parents of children with rare diseases. J Genet Couns. 2016;25(6):1207\u201314. https:\/\/doi.org\/10.1007\/s10897-016-9958-5","journal-title":"J Genet Couns"},{"issue":"1","key":"3314_CR22","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/epi4.12458","volume":"6","author":"JS Jeffrey","year":"2021","unstructured":"Jeffrey JS, Leathem J, King C, Mefford HC, Ross K, Sadleir LG. Developmental and epileptic encephalopathy: personal utility of a genetic diagnosis for families. Epilepsia open. 2021;6(1):149\u201359. https:\/\/doi.org\/10.1002\/epi4.12458","journal-title":"Epilepsia open"},{"issue":"1","key":"3314_CR23","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1002\/ajmg.a.61920","volume":"185","author":"CM Withers","year":"2021","unstructured":"Withers CM, Fleming J, Wallingford CK, Gabbett MT, Peterson M, Humphreys L, et al. Waiting for a diagnosis in Rubinstein-Taybi: the journey from ignorance is bliss to the value of a label. Am J Med Genet A. 2021;185(1):105\u201311. https:\/\/doi.org\/10.1002\/ajmg.a.61920","journal-title":"Am J Med Genet A"},{"issue":"4","key":"3314_CR24","doi-asserted-by":"publisher","first-page":"104164","DOI":"10.1016\/j.ejmg.2021.104164","volume":"64","author":"J Fitzgerald","year":"2021","unstructured":"Fitzgerald J, Wilson C, Kelly C, Gallagher L. \u2018More than a box of puzzles\u2019: understanding the parental experience of having a child with a rare genetic condition. Eur J Med Genet. 2021;64(4):104164. https:\/\/doi.org\/10.1016\/j.ejmg.2021.104164.","journal-title":"Eur J Med Genet"},{"issue":"10","key":"3314_CR25","doi-asserted-by":"publisher","first-page":"1718","DOI":"10.1111\/jpc.16165","volume":"58","author":"EE Palmer","year":"2022","unstructured":"Palmer EE, Sachdev R, Beavis E, Macintosh R, Le Marne FA, Nevin SM, et al. Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): uncertainty. J Paediatr Child Health. 2022;58(10):1718\u201321. https:\/\/doi.org\/10.1111\/jpc.16165","journal-title":"J Paediatr Child Health"},{"key":"3314_CR26","unstructured":"Government of the Netherlands. Applying for a personal budget. https:\/\/www.government.nl\/topics\/care-and-support-at-home\/applying-for-a-personal-budget Accessed 11 Nov 2023."},{"issue":"1","key":"3314_CR27","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1186\/s13023-023-02837-9","volume":"18","author":"S Witt","year":"2023","unstructured":"Witt S, Schuett K, Wiegand-Grefe S, Boettcher J, Quitmann J. Living with a rare disease - experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis. 2023;18(1):242. https:\/\/doi.org\/10.1186\/s13023-023-02837-9","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"3314_CR28","doi-asserted-by":"publisher","first-page":"4466","DOI":"10.3390\/ijerph17124466","volume":"17","author":"J \u00fceita-Rodriguez","year":"2020","unstructured":"G\u00fceita-Rodriguez J, Famoso-P\u00e9rez P, Salom-Moreno J, Carrasco-Garrido P, P\u00e9rez-Corrales J, Palacios-Ce\u00f1a D. Challenges affecting access to health and social care resources and time management among parents of children with Rett Syndrome: a qualitative case study. Int J Environ Res Public Health. 2020;17(12):4466. https:\/\/doi.org\/10.3390\/ijerph17124466.","journal-title":"Int J Environ Res Public Health"},{"key":"3314_CR29","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-018-0294-9","author":"J Baumbusch","year":"2018","unstructured":"Baumbusch J, Mayer S, Sloan-Yip I. Alone in a crowd? Parents of children with rare diseases\u2019 experiences of navigating the healthcare system. J Genet Couns. 2018. https:\/\/doi.org\/10.1007\/s10897-018-0294-9. Advance online publication.","journal-title":"J Genet Couns"},{"issue":"1","key":"3314_CR30","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/s11689-019-9278-9","volume":"11","author":"S O\u2019Brien","year":"2019","unstructured":"O\u2019Brien S, Ng-Cordell E, The DDD Study, Astle DE, Scerif G, Baker K. STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics. J Neurodev Disord. 2019;11(1):17. https:\/\/doi.org\/10.1186\/s11689-019-9278-9.","journal-title":"J Neurodev Disord"},{"issue":"4","key":"3314_CR31","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1002\/eahr.500097","volume":"43","author":"E Turbitt","year":"2021","unstructured":"Turbitt E, Newson AJ, Biesecker BB, Wilfond BS. Enrolling children in clinical trials for genetic neurodevelopmental conditions: Ethics, parental decisions, and children\u2019s identities. Ethics Hum Res. 2021;43(4):27\u201336. https:\/\/doi.org\/10.1002\/eahr.500097","journal-title":"Ethics Hum Res"},{"issue":"4","key":"3314_CR32","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1111\/cge.12364","volume":"86","author":"A Inglis","year":"2014","unstructured":"Inglis A, Lohn Z, Austin JC, Hippman C. A \u2018cure\u2019 for Down syndrome: what do parents want? Clin Genet. 2014;86(4):310\u20137. https:\/\/doi.org\/10.1111\/cge.12364","journal-title":"Clin Genet"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03314-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03314-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03314-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T12:40:55Z","timestamp":1740746455000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03314-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,27]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3314"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03314-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,27]]},"assertion":[{"value":"15 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"For this study, we received a waiver from the research ethics review committee of Erasmus MC (MEC-2022-0155) on the 21rd of March 2022, as the committee assessed that this type of study does not fall under the scope of the Medical Research Involving Human Subjects Research Act (WMO). Respondents gave verbal consent for participation in the study and for publication of the results, which was recorded on audio-tape. For interview studies in the Netherlands, written consent is neither customary nor required.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"All respondents provided verbal consent for publication of anonymized individual quotes, which was recorded on audio-tape. For interview studies in the Netherlands, written consent is neither customary nor required.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare that no support from any other organization is involved in the submitted work; no financial relationships with any organizations that have an interest in the submitted work; no other relationships or activities that could have influenced the submitted work.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"89"}}