{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:43:09Z","timestamp":1777804989670,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Schaaf-Yang syndrome is an ultra-rare neurodevelopmental disorder caused by pathogenic variants in the\n                    <jats:italic toggle=\"yes\">MAGEL2<\/jats:italic>\n                    gene, also implicated in Prader-Willi syndrome. With less than 1 case per 50 000 people, Schaaf-Yang syndrome remains underreported globally, and no previous cases have been documented in Brazil.\n                    <jats:bold>Case description:<\/jats:bold>\n                    This study presents a 4-year-old Brazilian girl clinically diagnosed with Prader-Willi syndrome, characterized by hypotonia, delayed neuropsychomotor development, and craniofacial dysmorphism. Initial assessments identified growth hormone deficiency and developmental delays, followed by genetic sequencing at 2 years of age, confirming a pathogenic\n                    <jats:italic toggle=\"yes\">MAGEL2<\/jats:italic>\n                    variant [NM_019066.5:c2821dup: p (Arg941Profs*10)]. The child was also diagnosed with autism spectrum disorder. Multidisciplinary interventions, including medical care, speech therapy, and psychological support, led to remarkable improvements in motor function, language, memory, and learning.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    This is the first documented Brazilian case of Schaaf-Yang syndrome, emphasizing the critical role of early diagnosis and personalized interventions in reducing the impact of the syndrome.\n                  <\/jats:p>","DOI":"10.1177\/08830738251360215","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T06:23:26Z","timestamp":1754375006000},"page":"410-415","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-3111-5914","authenticated-orcid":false,"given":"Hanna Moraes","family":"dos Santos","sequence":"first","affiliation":[{"name":"Medicine Curse at the Federal University of Amap\u00e1, Department of Biological and Health Sciences, Macap\u00e1-Amap\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3245-3288","authenticated-orcid":false,"given":"Laiza Marcelly Vieira","family":"Valente","sequence":"additional","affiliation":[{"name":"Medicine Curse at the Federal University of Amap\u00e1, Department of Biological and Health Sciences, Macap\u00e1-Amap\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1277-848X","authenticated-orcid":false,"given":"Reny Wane Vieira","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Medicine Curse at the Federal University of Amap\u00e1, Department of Biological and Health Sciences, Macap\u00e1-Amap\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1798-5750","authenticated-orcid":false,"given":"Selma Gomes","family":"da Silva","sequence":"additional","affiliation":[{"name":"Medicine Curse at the Federal University of Amap\u00e1, Department of Biological and Health Sciences, Macap\u00e1-Amap\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0340-7651","authenticated-orcid":false,"given":"Cassandra de Moraes Ara\u00fajo","family":"Almeida","sequence":"additional","affiliation":[{"name":"Cl\u00ednico Privado, Macap\u00e1-Amap\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,8,4]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2776"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000023864"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2022.104698"},{"issue":"2","key":"e_1_3_3_5_2","article-title":"Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome","volume":"16","author":"Reznik DL","year":"2023","unstructured":"Reznik DL, Yang MV, de la Haza PA, et al. Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. Dis Models Amp Mech. 2023;16(2):dmm049829. doi: https:\/\/doi.org\/10.1242\/dmm.049829","journal-title":"Dis Models Amp Mech"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.3390\/diseases4010002"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105222"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38606"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40650"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000020574"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/pch\/17.10.561"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1159\/000501376"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.138576"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104252"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40486"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-108690"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251360215","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251360215","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251360215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:51Z","timestamp":1777495311000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251360215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,4]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1177\/08830738251360215"],"URL":"https:\/\/doi.org\/10.1177\/08830738251360215","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,4]]}}}