{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T06:04:08Z","timestamp":1789365848090,"version":"build-2803163510"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T00:00:00Z","timestamp":1789344000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Dup15q syndrome is a rare neurodevelopmental disorder associated with developmental delay, hypotonia or motor impairment, epilepsy or abnormal EEG findings, language impairment, and autism-related social-communication difficulties. This case report describes the clinical phenotype, rehabilitation management, and longitudinal functional trajectory of a male child with a maternally derived 15q11.2-q13.1 copy-number gain. The child presented in early infancy with feeding difficulty, delayed motor development, abnormal sleep EEG findings, delayed white-matter maturation on brain MRI, and later clinically significant autism-related social-communication impairment. Trio whole-exome sequencing with CNV analysis identified an approximately 8.21-Mb\n                    <jats:italic>de novo<\/jats:italic>\n                    15q11.2-q13.1 copy-number gain. MS-MLPA demonstrated four copies across BP1-BP3 and approximately 75% SNRPN methylation, supporting maternal origin. Multidisciplinary rehabilitation began at 5 months and included physical, occupational, speech-language, feeding-related, caregiver-mediated, and later SMO-supported interventions. Serial BSID-II and GMFM-88 assessments were used descriptively, and ADOS-2 characterized autism-related behaviors. Developmental and gross motor scores increased over follow-up, and clinically meaningful milestones including stable head control, independent sitting, crawling, supported standing, and later independent walking were observed. However, because this is a single case without a comparator and follow-up overlapped with early childhood maturation, these changes should not be interpreted as direct evidence of treatment efficacy. This case highlights the value of phenotype-informed rehabilitation planning, developmental surveillance, caregiver involvement, and cautious interpretation of longitudinal outcomes in rare pediatric neurogenetic disorders.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1943381","type":"journal-article","created":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T05:39:34Z","timestamp":1789364374000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Early multidisciplinary rehabilitation and longitudinal functional outcomes in a child with a maternally derived 15q11.2-q13.1 copy-number gain"],"prefix":"10.3389","volume":"14","author":[{"given":"Jingyao","family":"Chen","sequence":"first","affiliation":[{"name":"WCSUH-Tianfu\u00b7Sichuan Provincial Children\u2019s Hospital (Sichuan Provincial Children\u2019s Medical Center)","place":["Meishan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wangqingyuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Tianfu College of Southwestern University of Finance and Economics","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zijuan","family":"Wang","sequence":"additional","affiliation":[{"name":"WCSUH-Tianfu\u00b7Sichuan Provincial Children\u2019s Hospital (Sichuan Provincial Children\u2019s Medical Center)","place":["Meishan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihui","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Rehabilitation, West China Second University Hospital, Sichuan University","place":["Chengdu, Sichuan, China"]},{"name":"Ministry of Education, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University)","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.3390\/genes15101304","article-title":"Chromosome 15q11\u2013q13 duplication syndrome: a review of the literature and 14 new cases","volume":"15","author":"Bisba","year":"2024","journal-title":"Genes (Basel)"},{"key":"B2","article-title":"15q Duplication syndrome and related disorders","volume-title":"GeneReviews\u00ae","author":"Finucane","year":"2016"},{"key":"B3","doi-asserted-by":"publisher","first-page":"e87458","DOI":"10.7759\/cureus.87458","article-title":"Sporadic Dup15q syndrome presenting with developmental delay, intellectual disability, attention-deficit\/hyperactivity disorder, and epilepsy: a case 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