{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:16:31Z","timestamp":1787019391516,"version":"build-2736575974"},"reference-count":13,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T00:00:00Z","timestamp":1748390400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T00:00:00Z","timestamp":1748390400000},"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":["Sage Open Medical Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Sleep disturbances, hypotonia, intellectual disability, neurological disorders, and epilepsy (SHINE) syndrome is a rare autosomal dominant neurodevelopmental disorder. A mutation in the DLG-4\n                    <jats:italic toggle=\"yes\">gene<\/jats:italic>\n                    on chromosome 17 causes SHINE syndrome. SHINE are characteristic feature of the disease. This case recounts a 16-year-old female patient who presented with a longstanding history of developmental delay and intellectual disability since the age of two. At various points throughout her childhood, she was diagnosed with pervasive developmental disorder, autism spectrum disorder, attention-deficit hyperactivity disorder, and severe intellectual delay, undergoing extensive testing and imaging. Fourteen years after the initial presentation, additional genetic testing revealed a de-novo mutation in the DLG4\n                    <jats:italic toggle=\"yes\">gene<\/jats:italic>\n                    , confirming a diagnosis of SHINE syndrome. Due to its characteristic features, SHINE syndrome should be considered part of the differential diagnosis in children with unexplained developmental delays.\n                  <\/jats:p>","DOI":"10.1177\/2050313x241308444","type":"journal-article","created":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T08:04:08Z","timestamp":1748419448000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Late-onset diagnosis of SHINE syndrome in an adolescent with developmental delay: Case report"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2727-4998","authenticated-orcid":false,"given":"Mohamed","family":"Zebda","sequence":"first","affiliation":[{"name":"University of Houston Tilman J Fertitta Family College of Medicine, Clinical Sciences, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaiah","family":"Carter","sequence":"additional","affiliation":[{"name":"University of Houston Tilman J Fertitta Family College of Medicine, Clinical Sciences, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sierra","family":"Cowan","sequence":"additional","affiliation":[{"name":"University of Houston Tilman J Fertitta Family College of Medicine, Clinical Sciences, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,5,28]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01075-9"},{"key":"e_1_3_3_3_2","first-page":"1","volume-title":"GeneReviews\u00ae","author":"T\u00fcmer Z","year":"2023","unstructured":"T\u00fcmer Z, Dye TJ, Prada C, et al. DLG4-related synaptopathy. In: Adam MP, Feldman J, Mirzaa GM, et al. (eds.) GeneReviews\u00ae. University of Washington, 2023; 1\u201317."},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17876"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13243"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-78654-y"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-9091(98)80020-X"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12888-023-04962-y"},{"issue":"3","key":"e_1_3_3_9_2","first-page":"193","article-title":"Adolescent idiopathic scoliosis: diagnosis and management","volume":"89","author":"Horne JP","year":"2014","unstructured":"Horne JP, Flannery R, Usman S. Adolescent idiopathic scoliosis: diagnosis and management. Am Fam Physician 2014;89(3):193-198.","journal-title":"Am Fam Physician"},{"issue":"5","key":"e_1_3_3_10_2","article-title":"Supporting the health care transition from adolescence to adulthood in the medical home [published correction appears in Pediatrics 2019; 143(2): e20183610]","volume":"142","author":"White PH","year":"2018","unstructured":"White PH, Cooley WC; Transitions Clinical Report Authoring Group; American Academy of Pediatrics; American Academy of Family Physicians; American College of Physicians. Supporting the health care transition from adolescence to adulthood in the medical home [published correction appears in Pediatrics 2019; 143(2): e20183610]. Pediatrics 2018; 142(5): e20182587.","journal-title":"Pediatrics"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.chc.2017.03.001"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.5409\/wjcp.v11.i3.239"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23084390"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.17-6-558"}],"container-title":["Sage Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X241308444","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X241308444","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X241308444","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T05:19:32Z","timestamp":1767676772000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X241308444"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,28]]},"references-count":13,"alternative-id":["10.1177\/2050313X241308444"],"URL":"https:\/\/doi.org\/10.1177\/2050313x241308444","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,28]]},"article-number":"2050313X241308444"}}