{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T15:16:35Z","timestamp":1770563795419,"version":"3.49.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,10,8]],"date-time":"2018-10-08T00:00:00Z","timestamp":1538956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Child Psychology Psychiatry"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with\n                      <jats:italic>SMC1A<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed an international, interdisciplinary study on 51 individuals with\n                      <jats:italic>SMC1A<\/jats:italic>\n                      variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self\u2010injurious behaviour (SIB) are compared to those in individuals with CdLS caused by\n                      <jats:italic>NIPBL<\/jats:italic>\n                      variants. For Dutch participants with\n                      <jats:italic>SMC1A<\/jats:italic>\n                      variants we performed direct in\u2010person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Individuals with\n                      <jats:italic>SMC1A<\/jats:italic>\n                      variants show a higher cognitive level and less SIB than individuals with\n                      <jats:italic>NIPBL<\/jats:italic>\n                      variants. Individuals with\n                      <jats:italic>SMC1A<\/jats:italic>\n                      variants without classic CdLS phenotype but with a Rett\u2010like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in\u2010person assessments are evaluated taking developmental level into account compared to results based on a questionnaire.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jcpp.12979","type":"journal-article","created":{"date-parts":[[2018,10,8]],"date-time":"2018-10-08T09:48:35Z","timestamp":1538992115000},"page":"305-313","source":"Crossref","is-referenced-by-count":17,"title":["Development, behaviour and autism in individuals with\n                    <i>SMC1A<\/i>\n                    variants"],"prefix":"10.1111","volume":"60","author":[{"given":"Paul A.","family":"Mulder","sequence":"first","affiliation":[{"name":"Autism Team Northern\u2010Netherlands Jonx Department of Youth Mental Health and Autism Lentis Psychiatric Institute  Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Huisman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Amsterdam  Amsterdam the Netherlands"},{"name":"Prinsenstichting Institute Purmerend the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annemiek M.","family":"Landlust","sequence":"additional","affiliation":[{"name":"Autism Team Northern\u2010Netherlands Jonx Department of Youth Mental Health and Autism Lentis Psychiatric Institute  Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo","family":"Moss","sequence":"additional","affiliation":[{"name":"Cerebra Centre for Neurodevelopmental Disorders School of Psychology University of Birmingham  Birmingham UK"},{"name":"Institute of Cognitive Neuroscience University College London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"SMC1A Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Piening","sequence":"additional","affiliation":[{"name":"Autism Team 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