{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T16:42:41Z","timestamp":1792082561470,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Autism spectrum disorder (ASD) affects approximately one in 59 children. Variants in the activity\u2010dependent neuroprotector homeobox\n                      <jats:italic>ADNP<\/jats:italic>\n                      (OMIM #611386) gene may be one of the most common single\u2010gene causes of syndromic ASD. Most patients diagnosed with ADNP syndrome have ASD as a comorbidity, and all patients have mild\u2010to\u2010severe intellectual disability.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods\/Case Report<\/jats:title>\n                    <jats:p>We present a case report of a patient diagnosed with ADNP syndrome at 2.5\u00a0years of age. The patient has many of the key features of the syndrome, including ASD, global developmental delay, behavioral problems, congenital heart defect, early tooth eruption, and vision problems. The patient's initial presentation included congenital diaphragmatic hernia (CDH), which has not been previously reported in this condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The patient exhibited frequent behavioral outbursts and was initiated on antipsychotic medication with near\u2010complete resolution of symptoms allowing her to engage more fully in early intervention therapies leading to progress in language acquisition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This short report provides guidance for antipsychotic medication dosing to improve early intervention outcomes. This is the first report of CDH in this syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1230","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T05:39:51Z","timestamp":1586497191000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Early behavioral and developmental interventions in ADNP\u2010syndrome: A case report of SWI\/SNF\u2010related neurodevelopmental syndrome"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7447-8117","authenticated-orcid":false,"given":"Amelle","family":"Shillington","sequence":"first","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7954-5104","authenticated-orcid":false,"given":"Ernest","family":"Pedapati","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0770-5516","authenticated-orcid":false,"given":"Robert","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7460-5083","authenticated-orcid":false,"given":"Kristen","family":"Suhrie","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"issue":"5","key":"e_1_2_10_2_1","first-page":"485","article-title":"The aberrant behavior checklist: A behavior rating scale for the assessment of treatment effects","volume":"89","author":"Aman M. 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