{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T10:34:47Z","timestamp":1792924487293,"version":"4.5.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Syndromic autism refers to autism spectrum disorder (ASD) occurring as part of an identifiable genetic syndrome. Helsmoortel\u2013Van der Aa syndrome (HVDAS\/ADNP syndrome) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in the\n                    <jats:italic>ADNP<\/jats:italic>\n                    gene. We report a 10\u2010year\u2010old boy with ASD and intellectual disability who exhibited delayed motor and language development, characteristic facial dysmorphism, early tooth eruption, endocrine abnormalities, electroencephalography (EEG) abnormalities, and urogenital findings. Following unremarkable karyotyping and chromosomal microarray analysis (CMA), whole\u2010exome sequencing identified a heterozygous pathogenic\n                    <jats:italic>de novo<\/jats:italic>\n                    frameshift variant, c.1239_1240del,\n                    <jats:italic>p<\/jats:italic>\n                    .(Gln414Valfs*25) in\n                    <jats:italic>ADNP<\/jats:italic>\n                    . This case emphasizes the importance of considering a syndromic etiology in children with ASD accompanied by developmental delay, dysmorphic features, neurological findings, or multisystem involvement, and supports comprehensive genetic evaluation when first\u2010tier testing is unrevealing.\n                  <\/jats:p>","DOI":"10.1002\/dneu.70070","type":"journal-article","created":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:05:49Z","timestamp":1792040749000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Syndromic Autism in Helsmoortel\u2013Van der Aa Syndrome: From Clinical Suspicion to Genetic Diagnosis"],"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 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