{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T02:37:30Z","timestamp":1789699050497,"version":"4.0.1"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,8,14]],"date-time":"2018-08-14T00:00:00Z","timestamp":1534204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH101221"],"award-info":[{"award-number":["R01MH101221"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH100047"],"award-info":[{"award-number":["R01MH100047"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pathogenic disruptions to the activity\u2010dependent neuroprotector homeobox (<jats:italic>ADNP<\/jats:italic>) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with <jats:italic>ADNP<\/jats:italic> disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with <jats:italic>ADNP<\/jats:italic> may differ from that of individuals with another ASD\u2010associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with <jats:italic>ADNP<\/jats:italic> disruptions. Participants (<jats:italic>N<\/jats:italic> = 116, ages 4\u201322 years) included a cohort with <jats:italic>ADNP<\/jats:italic> mutations (<jats:italic>n<\/jats:italic> = 11) and three comparison groups with either a mutation to <jats:italic>CHD8<\/jats:italic> (<jats:italic>n<\/jats:italic> = 11), a mutation to another ASD\u2010associated gene (other mutation; <jats:italic>n<\/jats:italic> = 53), or ASD with no known genetic etiology (idiopathic ASD; <jats:italic>n<\/jats:italic> = 41). As expected, individuals with <jats:italic>ADNP<\/jats:italic> disruptions had higher rates of ID but less severe social affect symptoms compared to the <jats:italic>CHD8<\/jats:italic> and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the <jats:italic>ADNP<\/jats:italic> group compared to <jats:italic>CHD8<\/jats:italic>, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the <jats:italic>ADNP<\/jats:italic> group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of <jats:italic>ADNP<\/jats:italic> in cognitive functioning and suggest that social impairments in <jats:italic>ADNP<\/jats:italic> syndrome are consistent with severity of verbal deficits. <jats:bold><jats:italic>Autism Res<\/jats:italic><\/jats:bold> <jats:italic>2018, 11: 1300\u20131310<\/jats:italic>. \u00a9 2018 International Society for Autism Research, Wiley Periodicals, Inc.<\/jats:p><\/jats:sec><jats:sec><jats:title>Lay Summary<\/jats:title><jats:p>Disruptions to the <jats:italic>ADNP<\/jats:italic> gene (i.e., <jats:italic>ADNP<\/jats:italic> syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with <jats:italic>ADNP<\/jats:italic> Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the <jats:italic>ADNP<\/jats:italic> gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/aur.1980","type":"journal-article","created":{"date-parts":[[2018,8,14]],"date-time":"2018-08-14T19:23:15Z","timestamp":1534274595000},"page":"1300-1310","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["The autism spectrum phenotype in ADNP syndrome"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1342-0488","authenticated-orcid":false,"given":"Anne B.","family":"Arnett","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candace L.","family":"Rhoads","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendra","family":"Hoekzema","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington School of Medicine  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tychele N.","family":"Turner","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington School of Medicine  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Gerdts","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianne S.","family":"Wallace","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Bedrosian\u2010Sermone","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute  Chevy Chase Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington School of Medicine  Seattle Washington"},{"name":"ADNP KIDS Research Foundation  Brush Prairie WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael A.","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/338241"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1901\/jaba.2004.37-283"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.06.017"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-012-1671-0"},{"key":"e_1_2_7_7_1","unstructured":"Bodfish J. 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