{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T13:35:59Z","timestamp":1782999359860,"version":"3.54.5"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T00:00:00Z","timestamp":1692835200000},"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. Psychiatry"],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and\/or stereotyped behaviors. Coffin\u2013Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism\/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>An 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin\u2013Siris syndrome after genetic testing. Genetic testing revealed a heterozygous <jats:italic>de novo<\/jats:italic> pathogenic variant (class 5) c.1638_1647del in the <jats:italic>ARID1B<\/jats:italic> gene that is causative of Coffin\u2013Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Both autism and <jats:italic>ARID1B<\/jats:italic>-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fpsyt.2023.1199710","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T14:29:06Z","timestamp":1692887346000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Autism spectrum disorder and Coffin\u2013Siris syndrome\u2014Case report"],"prefix":"10.3389","volume":"14","author":[{"given":"Luka","family":"Milutinovic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Grujicic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanja","family":"Mandic Maravic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Joksic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasa","family":"Ljubomirovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milica","family":"Pejovic Milovancevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,8,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15585\/MMWR.SS7011A1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years \u2014 autism and developmental disabilities monitoring network, 11 sites, United States, 2018","volume":"70","author":"Maenner","year":"2021","journal-title":"MMWR Surveill Summ."},{"key":"B2","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1146\/annurev-publhealth-031816-044318","article-title":"The changing epidemiology of autism spectrum disorders","volume":"38","author":"Lyall","year":"2017","journal-title":"Annu Rev Public Health."},{"key":"B3","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1123\/apaq.2015-0091","article-title":"Relations of early motor skills on age and socialization, communication, and daily living in young children with developmental disabilities","volume":"34","author":"MacDonald","year":"2017","journal-title":"Adapt Phys Act Q."},{"key":"B4","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.gde.2012.03.002","article-title":"Genetic architecture in autism spectrum disorder","volume":"22","author":"Devlin","year":"2012","journal-title":"Curr Opin Genet Dev."},{"key":"B5","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1016\/j.ajhg.2016.06.036","article-title":"Rare inherited and de novo CNVs reveal complex contributions to ASD risk in multiplex families","volume":"99","author":"Leppa","year":"2016","journal-title":"Am J Hum Genet."},{"key":"B6","unstructured":"Coffin-Siris Syndrome - GeneReviews\u00ae - NCBI Bookshelf\n            VerganoSS\n            SantenG\n            WieczorekD\n            WollnikB\n            MatsumotoN\n            DeardorffMA\n          \n            AdamMP\n            ArdingerHH\n            PagonRA\n            WallaceSE\n            BeanLJH\n            StephensK\n            etal."},{"key":"B7","unstructured":"VerganoSA\n            SluijsPJ\n            van, der, SantenG\n          31132234ARID1B-Related Disorder. 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