{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T07:04:30Z","timestamp":1785135870151,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Developmental Neurobiology"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Smith\u2013Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid\u2010induced 1 (\n                    <jats:italic>RAI1<\/jats:italic>\n                    ) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep\u2013wake rhythm. Because early clinical findings are often nonspecific, diagnosis is frequently delayed, and patients may initially present to child psychiatry services with behavioral complaints. We report a 5\u2010year\u2010old girl referred for hyperactivity, severe circadian sleep disturbance with recurrent nocturnal awakenings, self\u2010injurious behaviors, sensory\u2010seeking behaviors, and developmental delay. Comprehensive psychiatric, developmental, neurological, physical, and genetic evaluations revealed a 17p11.2 microdeletion involving both\n                    <jats:italic>RAI1<\/jats:italic>\n                    and\n                    <jats:italic>folliculin (FLCN)<\/jats:italic>\n                    . The diagnosis of SMS was confirmed, and the involvement of\n                    <jats:italic>FLCN<\/jats:italic>\n                    indicated additional potential long\u2010term medical risks. This case underscores the importance of considering genetic etiologies in children presenting with severe behavioral dysregulation and sleep problems and highlights the critical role of comprehensive genetic assessment in guiding diagnosis, management, and long\u2010term follow\u2010up.\n                  <\/jats:p>","DOI":"10.1002\/dneu.70051","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T09:27:07Z","timestamp":1783070827000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith\u2013Magenis Syndrome and the Importance of the Diagnostic Pathway"],"prefix":"10.1002","volume":"86","author":[{"given":"Fethiye","family":"K\u0131l\u0131\u00e7aslan","sequence":"first","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Faculty of Medicine Harran University  Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015fe R\u00fcmeysa Olgar","family":"\u00c7etin","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Faculty of Medicine Harran University  Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6zlem","family":"\u00d6z","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Harran University  Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mert","family":"Co\u015fkun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanliurfa Mehmet Akif \u0130nan Education and Research Hospital  Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Burak","family":"Mutlu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Detagen Genetic Diseases Evaluation Center  Kayseri Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berna Polat","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Faculty of Medicine Harran University  Sanliurfa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1044\/2023_JSLHR-23-00179"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2024.101857"},{"key":"e_1_2_13_5_1","volume-title":"ACGS Best Practice Guidelines for Variant Classification","author":"Ellard 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