{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:38Z","timestamp":1791494918267,"version":"4.3.4"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T00:00:00Z","timestamp":1353369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2013,2]]},"abstract":"Alterations in the X<\/jats:styled-content>\u2010linked gene MECP2<\/jats:italic><\/jats:styled-content> encoding the methyl\u2010CpG<\/jats:styled-content>\u2010binding protein 2 have been linked to autism spectrum disorders (ASDs<\/jats:styled-content>). Most recently, data suggest that overexpression of MECP2<\/jats:italic><\/jats:styled-content> may be related to ASD<\/jats:styled-content>. To better characterize the relevance of MECP2<\/jats:italic><\/jats:styled-content> overexpression to ASD<\/jats:styled-content>\u2010related behaviors, we compared the core symptoms of ASD<\/jats:styled-content> in MECP2<\/jats:italic><\/jats:styled-content> duplication syndrome to nonverbal mental age\u2010matched boys with idiopathic ASD<\/jats:styled-content>. Within the MECP2<\/jats:italic><\/jats:styled-content> duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2<\/jats:italic><\/jats:styled-content> duplication syndrome (ages 3\u201310) with a chronological and mental age\u2010matched sample of nine nonverbal males with idiopathic ASD<\/jats:styled-content>. Our results indicate that boys with MECP2<\/jats:italic><\/jats:styled-content> duplication syndrome share the core behavioral features of ASD<\/jats:styled-content> (e.g. social affect, restricted\/repetitive behaviors). Direct comparisons of ASD<\/jats:styled-content> profiles revealed that a majority of boys with MECP2<\/jats:italic><\/jats:styled-content> duplication syndrome are similar to idiopathic ASD<\/jats:styled-content>; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD<\/jats:styled-content>) and similar severity in restricted\/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2<\/jats:italic><\/jats:styled-content> duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain\/temperature are part of the behavioral phenotype of MECP2<\/jats:italic><\/jats:styled-content> duplication syndrome. Our results illustrate that overexpression\/increased dosage of MECP2<\/jats:italic><\/jats:styled-content> is related to core features of ASD<\/jats:styled-content>. Autism Res<\/jats:bold> 2012, \u25cf\u25cf: \u25cf\u25cf\u2013\u25cf\u25cf.<\/jats:italic> \u00a9 2012 International Society for Autism Research, Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/aur.1262","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T23:41:11Z","timestamp":1353454871000},"page":"42-50","source":"Crossref","is-referenced-by-count":63,"title":["The Behavioral Phenotype in MECP<\/i><\/scp>2<\/i> Duplication Syndrome: A Comparison With Idiopathic Autism"],"prefix":"10.1002","volume":"6","author":[{"given":"Sarika U.","family":"Peters","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Psychiatry Vanderbilt University Nashville Tennessee"},{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel J.","family":"Hundley","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Psychiatry Vanderbilt University Nashville Tennessee"},{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy K.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zachary","family":"Warren","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Psychiatry Vanderbilt University Nashville Tennessee"},{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Vehorn","sequence":"additional","affiliation":[{"name":"Vanderbilt Kennedy Center for Research on Human Development Vanderbilt University Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia M.B.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa B.","family":"Ramocki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience Baylor College of Medicine Houston 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