{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:42Z","timestamp":1786976862068,"version":"build-2736575974"},"reference-count":77,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T00:00:00Z","timestamp":1397001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5\u201318 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty\u2010one children with CdLS (23 females, 18 males) were classified as having \u201cno autism\u201d (n\u2009=\u20097; 17.1%), \u201cmild autism\u201d (n\u2009=\u200917; 41.4%), and \u201csevere autism\u201d (n\u2009=\u200917; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009\u2264\u20090.0001). Maladaptive behaviors associated with autism traits were stereotypies (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.003), hyperactivity (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.01), and lethargy (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.0001) and communication (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36573","type":"journal-article","created":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T16:31:22Z","timestamp":1397061082000},"page":"1400-1410","source":"Crossref","is-referenced-by-count":36,"title":["Autism traits in children and adolescents with Cornelia de Lange syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Siddharth","family":"Srivastava","sequence":"first","affiliation":[{"name":"Department of Neurology and Developmental Medicine Kennedy Krieger Institute Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Landy\u2010Schmitt","sequence":"additional","affiliation":[{"name":"PerkinElmer Diagnostic Lab Services Frederick Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bennett","family":"Clark","sequence":"additional","affiliation":[{"name":"Department of Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonie D.","family":"Kline","sequence":"additional","affiliation":[{"name":"Harvey Institute for Human Genetics Greater Baltimore Medical Center Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"Specht","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco A.","family":"Grados","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore 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