{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T22:54:40Z","timestamp":1784588080426,"version":"3.55.0"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"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>Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epilepsy, psychomotor disorders and speech development disorders. To date, no study has been conducted in the Polish population to verify the condition's diagnosis and treatment process.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seventy patients with the median age of 60\u00a0months were included into the analysis. 80% of patients were diagnosed with deletion, 19.9% with a mutation of UBE3A gene, 4.3% with paternal uniparental disomy (UPD) and 2.8% with an imprinting defect. The mean age of first symptoms was 5\u00a0months, while the mean age of diagnosis was 29\u00a0months (earliest in deletion group at 23\u00a0months), and the median duration of diagnosis process was 7\u00a0months. The average time to a clinical geneticist appointment was 3\u00a0months. 37.9% of the patients initially received a different diagnosis. Epileptic seizures were present in 88.6% of the individuals. 98.6% of the studied group were under care of a pediatric neurologist, 47.1% of a gastroenterologist. A ketogenic diet was used in 7.1% of patients. Caregivers identified finding a specialist suitable for AS patients and access to genetic testing as the biggest problems.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The care of patients with AS in Poland is carried out according to the European and world standards, however there is an impeded access to clinical geneticist, and the knowledge about rare diseases among primary healthcare physicians could be improved. Moreover, access to AS care specialists and coordination of care is limited. There is a need for creation a specialized centers and databases for AS patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03292-w","type":"journal-article","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T09:34:13Z","timestamp":1724405653000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Angelman syndrome in Poland: current diagnosis and therapy status\u2014the caregiver perspective: a questionnaire study"],"prefix":"10.1186","volume":"19","author":[{"given":"Agata","family":"Suleja","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Milska-Musa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz","family":"Przys\u0142o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena","family":"Bednarczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcin","family":"Kostecki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik","family":"Cysewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0142","family":"Matryba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rozensztrauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u0142","family":"Dwornik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcin","family":"Opacki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"\u015amigiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9413-3976","authenticated-orcid":false,"given":"Kacper","family":"\u0141ukasiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,22]]},"reference":[{"issue":"3","key":"3292_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/mgg3.1843","volume":"10","author":"J Duis","year":"2022","unstructured":"Duis J, Nespeca M, Summers J, et al. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genom Med. 2022;10(3):1\u201326. https:\/\/doi.org\/10.1002\/mgg3.1843.","journal-title":"Mol Genet Genom Med"},{"issue":"1","key":"3292_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0716-z","volume":"12","author":"AC Wheeler","year":"2017","unstructured":"Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017;12(1):1\u201317. https:\/\/doi.org\/10.1186\/s13023-017-0716-z.","journal-title":"Orphanet J Rare Dis"},{"issue":"10","key":"3292_CR3","doi-asserted-by":"publisher","first-page":"647","DOI":"10.2165\/00148581-200305100-00001","volume":"5","author":"R Guerrini","year":"2003","unstructured":"Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. Pediatr Drugs. 2003;5(10):647\u201361. https:\/\/doi.org\/10.2165\/00148581-200305100-00001.","journal-title":"Pediatr Drugs"},{"key":"3292_CR4","first-page":"958","volume-title":"Genetically conditioned developmental disorders in children. I","author":"E Obersztyn","year":"2021","unstructured":"Obersztyn E. Angelman syndrome. In: \u015amigiel R, Szcza\u0142uba K, editors. Genetically conditioned developmental disorders in children. I. Warsaw: PZWL; 2021. p. 958\u201376."},{"issue":"Neurometabolism","key":"3292_CR5","first-page":"6085","volume":"31","author":"R \u015amigiel","year":"2023","unstructured":"\u015amigiel R, \u0141ukasiewicz K, Suleja A, et al. Diagnostic and therapeutic recommendations in Angelman syndrome. Pediatr Clin. 2023;31(Neurometabolism 2023):6085\u201392.","journal-title":"Pediatr Clin"},{"issue":"12","key":"3292_CR6","doi-asserted-by":"publisher","first-page":"104349","DOI":"10.1016\/J.EJMG.2021.104349","volume":"64","author":"I Krey","year":"2021","unstructured":"Krey I, Heine C, Fr\u00f6mming M, et al. The Angelman syndrome online registry\u2014a multilingual approach to support global research. Eur J Med Genet. 2021;64(12):104349. https:\/\/doi.org\/10.1016\/J.EJMG.2021.104349.","journal-title":"Eur J Med Genet"},{"key":"3292_CR7","doi-asserted-by":"publisher","DOI":"10.1186\/S13023-017-0686-1","author":"KR Napier","year":"2017","unstructured":"Napier KR, Tones M, Simons C, et al. A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. Orphanet J Rare Dis. 2017. https:\/\/doi.org\/10.1186\/S13023-017-0686-1.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"3292_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-021-02023-9","volume":"16","author":"D Walkowiak","year":"2021","unstructured":"Walkowiak D, Domaradzki J. Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study. Orphanet J Rare Dis. 2021;16(1):1\u201312. https:\/\/doi.org\/10.1186\/s13023-021-02023-9.","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"3292_CR9","doi-asserted-by":"publisher","first-page":"2197","DOI":"10.1002\/AJMG.A.36058","volume":"161","author":"LGB Mertz","year":"2013","unstructured":"Mertz LGB, Christensen R, Vogel I, et al. Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis. Am J Med Genet Part A. 2013;161(9):2197\u2013203. https:\/\/doi.org\/10.1002\/AJMG.A.36058.","journal-title":"Am J Med Genet Part A"},{"issue":"1","key":"3292_CR10","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/AJMG.A.61382","volume":"182","author":"KGCB Bindels-de Heus","year":"2020","unstructured":"Bindels-de Heus KGCB, Mous SE, ten Hooven-Radstaake M, et al. An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 2020;182(1):53\u201363. https:\/\/doi.org\/10.1002\/AJMG.A.61382.","journal-title":"Am J Med Genet A"},{"key":"3292_CR11","doi-asserted-by":"publisher","DOI":"10.3390\/GENES13081447","author":"X Du","year":"2022","unstructured":"Du X, Wang J, Li S, et al. An analysis of phenotype and genotype in a large cohort of Chinese children with Angelman syndrome. Genes (Basel). 2022. https:\/\/doi.org\/10.3390\/GENES13081447.","journal-title":"Genes (Basel)"},{"issue":"7","key":"3292_CR12","doi-asserted-by":"publisher","first-page":"3625","DOI":"10.1038\/s41380-020-0858-6","volume":"26","author":"M Keute","year":"2020","unstructured":"Keute M, Miller MT, Krishnan ML, et al. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2020;26(7):3625\u201333. https:\/\/doi.org\/10.1038\/s41380-020-0858-6.","journal-title":"Mol Psychiatry"},{"key":"3292_CR13","doi-asserted-by":"publisher","DOI":"10.1002\/MGG3.734","author":"N Khan","year":"2019","unstructured":"Khan N, Cabo R, Tan WH, et al. Healthcare burden among individuals with Angelman syndrome: findings from the Angelman Syndrome Natural History Study. Mol Genet Genom Med. 2019. https:\/\/doi.org\/10.1002\/MGG3.734.","journal-title":"Mol Genet Genom Med"},{"key":"3292_CR14","doi-asserted-by":"publisher","first-page":"41","DOI":"10.2147\/TACG.S372708","volume":"16","author":"VK Ma","year":"2023","unstructured":"Ma VK, Mao R, Toth JN, et al. Prader\u2013Willi and Angelman syndromes: mechanisms and management. Appl Clin Genet. 2023;16:41. https:\/\/doi.org\/10.2147\/TACG.S372708.","journal-title":"Appl Clin Genet"},{"issue":"7","key":"3292_CR15","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1097\/GIM.0B013E3181DEF138","volume":"12","author":"CA Williams","year":"2010","unstructured":"Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385\u201395. https:\/\/doi.org\/10.1097\/GIM.0B013E3181DEF138.","journal-title":"Genet Med"},{"key":"3292_CR16","unstructured":"Madaan M, Mendez MD. Angelman syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560870\/. Accessed 3 Jan 2024."},{"issue":"1","key":"3292_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-022-14161-6","volume":"12","author":"K Narita","year":"2022","unstructured":"Narita K, Muramatsu H, Narumi S, et al. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. Sci Rep. 2022;12(1):1\u20138. https:\/\/doi.org\/10.1038\/s41598-022-14161-6.","journal-title":"Sci Rep"},{"key":"3292_CR18","doi-asserted-by":"publisher","first-page":"103170","DOI":"10.1016\/J.AMSU.2021.103170","volume":"73","author":"A Triono","year":"2022","unstructured":"Triono A, Iskandar K, Nugrahanto AP, et al. The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: a case report. Ann Med Surg. 2022;73:103170. https:\/\/doi.org\/10.1016\/J.AMSU.2021.103170.","journal-title":"Ann Med Surg"},{"issue":"1","key":"3292_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41525-022-00295-z","volume":"7","author":"CA Austin-Tse","year":"2022","unstructured":"Austin-Tse CA, Jobanputra V, Perry DL, et al. Best practices for the interpretation and reporting of clinical whole genome sequencing. npj Genom Med. 2022;7(1):1\u201313. https:\/\/doi.org\/10.1038\/s41525-022-00295-z.","journal-title":"npj Genom Med"},{"issue":"6","key":"3292_CR20","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.1002\/AJMG.A.61558","volume":"182","author":"KJ Burdick","year":"2020","unstructured":"Burdick KJ, Cogan JD, Rives LC, et al. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020;182(6):1400\u20136. https:\/\/doi.org\/10.1002\/AJMG.A.61558.","journal-title":"Am J Med Genet A"},{"issue":"11","key":"3292_CR21","doi-asserted-by":"publisher","first-page":"4183","DOI":"10.1007\/s00345-021-03742-1","volume":"39","author":"Y Liu","year":"2021","unstructured":"Liu Y, Long W, Zhang Z, et al. Metastasis-directed stereotactic body radiotherapy for oligometastatic renal cell carcinoma: extent of tumor burden eradicated by radiotherapy. World J Urol. 2021;39(11):4183\u201390. https:\/\/doi.org\/10.1007\/s00345-021-03742-1.","journal-title":"World J Urol"},{"issue":"2","key":"3292_CR22","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1007\/s41252-021-00195-w","volume":"5","author":"L Roche","year":"2021","unstructured":"Roche L, Tones M, Williams MG, et al. Caregivers report on the pathway to a formal diagnosis of Angelman syndrome: a comparison across genetic etiologies within the global Angelman Syndrome Registry. Adv Neurodev Disord. 2021;5(2):193\u2013203. https:\/\/doi.org\/10.1007\/s41252-021-00195-w.","journal-title":"Adv Neurodev Disord"},{"issue":"11","key":"3292_CR23","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1111\/J.1528-1157.1998.TB01314.X","volume":"39","author":"C Kuenzle","year":"1998","unstructured":"Kuenzle C, Steinlin M, Wohlrab G, et al. Adverse effects of vigabatrin in Angelman syndrome. Epilepsia. 1998;39(11):1213\u20135. https:\/\/doi.org\/10.1111\/J.1528-1157.1998.TB01314.X.","journal-title":"Epilepsia"},{"key":"3292_CR24","unstructured":"Epilepsies in children, young people and adults. London: National Institute for Health and Care Excellence (NICE); 2022. (NICE Guideline, No. 217.). https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK581165\/. Accessed 3 Jan 2024."},{"issue":"5","key":"3292_CR25","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/AJMG.A.31074","volume":"140 A","author":"CA Williams","year":"2006","unstructured":"Williams CA, Beaudet AL, Clayton-Smith J, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet. 2006;140 A(5):413\u20138. https:\/\/doi.org\/10.1002\/AJMG.A.31074.","journal-title":"Am J Med Genet"},{"key":"3292_CR26","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/J.SMRV.2017.01.002","volume":"37","author":"K Spruyt","year":"2018","unstructured":"Spruyt K, Braam W, Curfs LM. Sleep in Angelman syndrome: a review of evidence. Sleep Med Rev. 2018;37:69\u201384. https:\/\/doi.org\/10.1016\/J.SMRV.2017.01.002.","journal-title":"Sleep Med Rev"},{"key":"3292_CR27","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/J.RIDD.2017.07.017","volume":"69","author":"J Trickett","year":"2017","unstructured":"Trickett J, Heald M, Oliver C. Sleep in children with Angelman syndrome: parental concerns and priorities. Res Dev Disabil. 2017;69:105\u201315. https:\/\/doi.org\/10.1016\/J.RIDD.2017.07.017.","journal-title":"Res Dev Disabil"},{"key":"3292_CR28","doi-asserted-by":"publisher","DOI":"10.1016\/J.RIDD.2023.104444","author":"KGCB Bindels-de Heus","year":"2023","unstructured":"Bindels-de Heus KGCB, ten Hooven-Radstaake M, Legerstee JS, et al. Sleep problems in children with Angelman Syndrome: the effect of a behavioral intervention program. Res Dev Disabil. 2023. https:\/\/doi.org\/10.1016\/J.RIDD.2023.104444.","journal-title":"Res Dev Disabil"},{"issue":"10","key":"3292_CR29","doi-asserted-by":"publisher","first-page":"2703","DOI":"10.1002\/AJMG.A.38401","volume":"173","author":"LW Glassman","year":"2017","unstructured":"Glassman LW, Grocott OR, Kunz PA, et al. Prevalence of gastrointestinal symptoms in Angelman syndrome. Am J Med Genet A. 2017;173(10):2703\u20139. https:\/\/doi.org\/10.1002\/AJMG.A.38401.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"3292_CR30","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/J.PEDIATRNEUROL.2012.09.015","volume":"48","author":"RL Thibert","year":"2013","unstructured":"Thibert RL, Larson AM, Hsieh DT, et al. Neurologic manifestations of Angelman syndrome. Pediatr Neurol. 2013;48(4):271\u20139. https:\/\/doi.org\/10.1016\/J.PEDIATRNEUROL.2012.09.015.","journal-title":"Pediatr Neurol"},{"issue":"11","key":"3292_CR31","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1111\/JIR.12975","volume":"66","author":"G Leader","year":"2022","unstructured":"Leader G, Whelan S, Chonaill NN, et al. Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome. J Intellect Disabil Res. 2022;66(11):865\u201379. https:\/\/doi.org\/10.1111\/JIR.12975.","journal-title":"J Intellect Disabil Res"},{"issue":"3","key":"3292_CR32","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1002\/AJMG.A.36923","volume":"167A","author":"A Welham","year":"2015","unstructured":"Welham A, Lau J, Moss J, et al. Are Angelman and Prader\u2013Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader\u2013Willi and 1p36 deletion syndromes. Am J Med Genet A. 2015;167A(3):572\u20138. https:\/\/doi.org\/10.1002\/AJMG.A.36923.","journal-title":"Am J Med Genet A"},{"key":"3292_CR33","doi-asserted-by":"publisher","DOI":"10.1177\/2050312118823585","author":"II Salminen","year":"2019","unstructured":"Salminen II, Crespi BJ, Mokkonen M. Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader\u2013Willi and Angelman syndromes. SAGE Open Med. 2019. https:\/\/doi.org\/10.1177\/2050312118823585.","journal-title":"SAGE Open Med"},{"issue":"11","key":"3292_CR34","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1016\/J.RIDD.2014.07.025","volume":"35","author":"LGB Mertz","year":"2014","unstructured":"Mertz LGB, Christensen R, Vogel I, et al. Eating behavior, prenatal and postnatal growth in Angelman syndrome. Res Dev Disabil. 2014;35(11):2681\u201390. https:\/\/doi.org\/10.1016\/J.RIDD.2014.07.025.","journal-title":"Res Dev Disabil"},{"issue":"1","key":"3292_CR35","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/J.BRAINDEV.2020.08.014","volume":"43","author":"D Samanta","year":"2021","unstructured":"Samanta D. Epilepsy in Angelman syndrome: a scoping review. Brain Dev. 2021;43(1):32\u201344. https:\/\/doi.org\/10.1016\/J.BRAINDEV.2020.08.014.","journal-title":"Brain Dev"},{"issue":"2","key":"3292_CR36","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/J.JAAPOS.2010.12.013","volume":"15","author":"P Michieletto","year":"2011","unstructured":"Michieletto P, Bonanni P, Pensiero S. Ophthalmic findings in Angelman syndrome. J AAPOS. 2011;15(2):158\u201361. https:\/\/doi.org\/10.1016\/J.JAAPOS.2010.12.013.","journal-title":"J AAPOS"},{"issue":"1\u20132","key":"3292_CR37","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1159\/000369454","volume":"73","author":"M Giroud","year":"2015","unstructured":"Giroud M, Daubail B, Khayat N, et al. Angelman Syndrome: a case series assessing neurological issues in adulthood. Eur Neurol. 2015;73(1\u20132):119\u201325. https:\/\/doi.org\/10.1159\/000369454.","journal-title":"Eur Neurol"},{"issue":"2","key":"3292_CR38","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/AJMG.A.36864","volume":"167A","author":"AM Larson","year":"2015","unstructured":"Larson AM, Shinnick JE, Shaaya EA, et al. Angelman syndrome in adulthood. Am J Med Genet A. 2015;167A(2):331\u201344. https:\/\/doi.org\/10.1002\/AJMG.A.36864.","journal-title":"Am J Med Genet A"},{"key":"3292_CR39","unstructured":"Dagli AI, Mathews J, Williams CA. Angelman Syndrome. 1998 Sep 15 [Updated 2021 Apr 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132023. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1144\/. Accessed 3 Jan 2024."},{"issue":"3","key":"3292_CR40","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1007\/S13311-015-0361-Y","volume":"12","author":"SS Margolis","year":"2015","unstructured":"Margolis SS, Sell GL, Zbinden MA, et al. Angelman syndrome. Neurotherapeutics. 2015;12(3):641\u201350. https:\/\/doi.org\/10.1007\/S13311-015-0361-Y.","journal-title":"Neurotherapeutics"},{"issue":"3","key":"3292_CR41","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1515\/IJDHD-2012-0107\/MACHINEREADABLECITATION\/RIS","volume":"12","author":"M Budisteanu","year":"2013","unstructured":"Budisteanu M, Papuc SM, Tutulan-Cunita A, et al. Angelman syndrome patient management: 5 years of clinical experience. Int J Disabil Hum Dev. 2013;12(3):379\u201384. https:\/\/doi.org\/10.1515\/IJDHD-2012-0107\/MACHINEREADABLECITATION\/RIS.","journal-title":"Int J Disabil Hum Dev"},{"issue":"3","key":"3292_CR42","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1891\/0730-0832.36.3.142","volume":"36","author":"D Bonello","year":"2017","unstructured":"Bonello D, Camilleri F, Calleja-Agius J. Angelman syndrome: identification and management. Neonatal Netw. 2017;36(3):142\u201351. https:\/\/doi.org\/10.1891\/0730-0832.36.3.142.","journal-title":"Neonatal Netw"},{"key":"3292_CR43","doi-asserted-by":"publisher","DOI":"10.1136\/BCR.06.2010.3081","author":"OK Kara","year":"2010","unstructured":"Kara OK, Mutlu A, Gunel MK, et al. Do the physiotherapy results make us happy in a case with \u201chappy puppet\u201d (Angelman) syndrome? BMJ Case Rep. 2010. https:\/\/doi.org\/10.1136\/BCR.06.2010.3081.","journal-title":"BMJ Case Rep"},{"issue":"3","key":"3292_CR44","doi-asserted-by":"publisher","first-page":"359","DOI":"10.3390\/NEUROLINT13030036","volume":"13","author":"M Sommese","year":"2021","unstructured":"Sommese M, Corrado B. A comprehensive approach to rehabilitation interventions in patients with Angelman syndrome: a systematic review of the literature. Neurol Int. 2021;13(3):359\u201370. https:\/\/doi.org\/10.3390\/NEUROLINT13030036.","journal-title":"Neurol Int"},{"issue":"5","key":"3292_CR45","doi-asserted-by":"publisher","first-page":"879","DOI":"10.5114\/AOMS.2012.28638","volume":"8","author":"W Kiebzak","year":"2012","unstructured":"Kiebzak W, Kowalski IM, Domagalska M, et al. Assessment of visual perception in adolescents with a history of central coordination disorder in early life\u201415-year follow-up study. Arch Med Sci. 2012;8(5):879\u201385. https:\/\/doi.org\/10.5114\/AOMS.2012.28638.","journal-title":"Arch Med Sci"},{"issue":"1","key":"3292_CR46","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1590\/S1809-29502013000100012","volume":"20","author":"LP Visicato","year":"2013","unstructured":"Visicato LP, da Costa CSN, Taube OLS, et al. Proposal for a physical therapy program in a child with Angelman syndrome, emphasizing postural balance: a case study. Fisioter e Pesqui. 2013;20(1):70\u20135. https:\/\/doi.org\/10.1590\/S1809-29502013000100012.","journal-title":"Fisioter e Pesqui"},{"key":"3292_CR47","unstructured":"Clayton-Smith J, Adams D, Dan B et al. Angelman syndrome clinical management guidelines management of Angelman syndrome a clinical guideline Angelman syndrome clinical management guidelines, 2011. https:\/\/www.orpha.net\/data\/patho\/Pro\/en\/AngelmanGuidelines2011.pdf. Accessed 21 Dec 2023."},{"issue":"2","key":"3292_CR48","first-page":"111","volume":"9","author":"M Dwornik","year":"2007","unstructured":"Dwornik M, Bia\u0142oszewski D, Korabiewska I, et al. Principles of neuro mobilization for treating musculoskeletal disease. Ortop Traumatol Rehabil. 2007;9(2):111\u201321.","journal-title":"Ortop Traumatol Rehabil"},{"key":"3292_CR49","doi-asserted-by":"publisher","DOI":"10.1186\/S13052-016-0301-4","author":"S Micheletti","year":"2016","unstructured":"Micheletti S, Palestra F, Martelli P, et al. Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient. Ital J Pediatr. 2016. https:\/\/doi.org\/10.1186\/S13052-016-0301-4.","journal-title":"Ital J Pediatr"},{"issue":"2","key":"3292_CR50","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1002\/AJMG.1320560213","volume":"56","author":"IM Buntinx","year":"1995","unstructured":"Buntinx IM, Hennekam RCM, Brouwer OF, et al. Clinical profile of Angelman syndrome at different ages. Am J Med Genet. 1995;56(2):176\u201383. https:\/\/doi.org\/10.1002\/AJMG.1320560213.","journal-title":"Am J Med Genet"},{"issue":"7","key":"3292_CR51","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1002\/AJMG.A.37058","volume":"167","author":"LC Fairbrother","year":"2015","unstructured":"Fairbrother LC, Cytrynbaum C, Boutis P, et al. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. Am J Med Genet A. 2015;167(7):1565\u20139. https:\/\/doi.org\/10.1002\/AJMG.A.37058.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"3292_CR52","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1002\/AJMG.A.38072","volume":"173","author":"A Le Fevre","year":"2017","unstructured":"Le Fevre A, Beygo J, Silveira C, et al. Atypical Angelman syndrome due to a mosaic imprinting defect: case reports and review of the literature. Am J Med Genet Part A. 2017;173(3):753\u20137. https:\/\/doi.org\/10.1002\/AJMG.A.38072.","journal-title":"Am J Med Genet Part A"},{"issue":"1","key":"3292_CR53","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12913-022-08060-9","volume":"22","author":"R Spencer-Tansley","year":"2022","unstructured":"Spencer-Tansley R, Meade N, Ali F, et al. Mental health care for rare disease in the UK\u2014recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Serv Res. 2022;22(1):1\u201314. https:\/\/doi.org\/10.1186\/s12913-022-08060-9.","journal-title":"BMC Health Serv Res"},{"issue":"4","key":"3292_CR54","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1111\/J.1365-2788.2011.01386.X","volume":"55","author":"GM Griffith","year":"2011","unstructured":"Griffith GM, Hastings RP, Oliver C, et al. Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes. J Intellect Disabil Res. 2011;55(4):397\u2013410. https:\/\/doi.org\/10.1111\/J.1365-2788.2011.01386.X.","journal-title":"J Intellect Disabil Res"},{"issue":"36\u201337","key":"3292_CR55","first-page":"57","volume":"34","author":"S Kedziora","year":"2007","unstructured":"Kedziora S. Wp\u0142yw przewlek\u0142ej choroby dziecka na funkcjonowanie rodziny. N i S. 2007;34(36\u201337):57\u201366.","journal-title":"N i S"},{"key":"3292_CR56","first-page":"149","volume-title":"Studia z psychologii rozwojowej i psycholingwistyki","author":"G Makie\u0142\u0142o-Jar\u017ca","year":"1998","unstructured":"Makie\u0142\u0142o-Jar\u017ca G. Problemy Psychologiczne Rodzin Wychowuj\u0105cych Dzieci Niepe\u0142nosprawne i Przewlekle Chore. In: Smoczy\u0144ska M, editor. Studia z psychologii rozwojowej i psycholingwistyki. WUJ: Cracow; 1998. p. 149\u201357."},{"key":"3292_CR57","doi-asserted-by":"publisher","DOI":"10.2147\/JMDH.S113898","author":"LJ Pelentsov","year":"2016","unstructured":"Pelentsov LJ, Fielder AL, Laws TA, et al. Development of the parental needs scale for rare diseases: a tool for measuring the supportive care needs of parents caring for a child with a rare disease. J Mulidiscip Healthc. 2016. https:\/\/doi.org\/10.2147\/JMDH.S113898.","journal-title":"J Mulidiscip Healthc"},{"issue":"1","key":"3292_CR58","doi-asserted-by":"publisher","first-page":"223","DOI":"10.21697\/fp.2016.1.15","volume":"6","author":"M \u017belazkowska","year":"2017","unstructured":"\u017belazkowska M. Wybrane metody terapii w procesie leczenia dziecka przewlekle chorego. Forum Pedagog. 2017;6(1):223\u201332. https:\/\/doi.org\/10.21697\/fp.2016.1.15.","journal-title":"Forum Pedagog"},{"key":"3292_CR59","unstructured":"Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: exploration of potential indicators PIRU Publication 2015-13. Published online 2015. www.piru.ac.uk. Accessed 29 Jul 2023."}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03292-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03292-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03292-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T09:37:23Z","timestamp":1724405843000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03292-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,22]]},"references-count":59,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3292"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03292-w","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-4390753\/v1","asserted-by":"object"}]},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,22]]},"assertion":[{"value":"10 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Bioethical clearance to conduct the study was obtained via the approval of the Bioethics Committee at the Medical University of Wroc\u0142aw (No. 125\/2023).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"DC and K\u0141 are board members in PROT sp. z o.o. and Neurare Research Foundation.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"306"}}