{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:40Z","timestamp":1753861780680,"version":"3.41.2"},"reference-count":43,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,6,22]],"date-time":"2024-06-22T00:00:00Z","timestamp":1719014400000},"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":["P50HD103538"],"award-info":[{"award-number":["P50HD103538"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in the cohesin genes, <jats:italic>NIPBL<\/jats:italic> and <jats:italic>SMC1A<\/jats:italic>, both cause Cornelia de Lange syndrome (CdLS), a rare genetic disorder associated with developmental delay and intellectual disability. This study aimed to compare sleep behaviors across individuals with CdLS caused by a variant in <jats:italic>NIPBL<\/jats:italic> or <jats:italic>SMC1A<\/jats:italic>, and identify relationships between sleep and behavior functioning. A total of 31 caregivers of individuals with a variant in <jats:italic>NIPBL<\/jats:italic> (<jats:italic>N<\/jats:italic>\u2009=\u200922) or <jats:italic>SMC1A<\/jats:italic> (<jats:italic>N<\/jats:italic>\u2009=\u20099) completed questionnaires regarding their child's sleep behaviors, behavior regulation, attention, and autistic features (repetitive behaviors and social communication difficulties) as part of the Coordination of Rare Diseases (CoRDS) registry. Findings showed a trend of increased behavior regulation difficulties and repetitive behaviors in the <jats:italic>NIPBL<\/jats:italic> compared to the <jats:italic>SMC1A<\/jats:italic> participants. Both groups presented with a similar degree of attention, social communication, and sleep challenges. In the whole sample, sleep disturbance was strongly correlated with more behavior regulation difficulties, a relationship that was more robust in the <jats:italic>NIPBL<\/jats:italic> sample. In brief, study results support our prior observations of greater behavior difficulties among those with a variant in <jats:italic>NIPBL<\/jats:italic> as compared to <jats:italic>SMC1A<\/jats:italic>. Preliminary findings point to unique associations between sleep and behavior regulation in the <jats:italic>NIPBL<\/jats:italic> group, suggesting sleep interventions may yield differential effects on behavior management across variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.63793","type":"journal-article","created":{"date-parts":[[2024,6,22]],"date-time":"2024-06-22T07:49:20Z","timestamp":1719042560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Sleep correlates of behavior functioning in Cornelia de Lange syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7193-4300","authenticated-orcid":false,"given":"Rowena","family":"Ng","sequence":"first","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Grados","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"O'Connor","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deirdre","family":"Summa","sequence":"additional","affiliation":[{"name":"Cornelia de Lange Syndrome Foundation  Avon Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonie D.","family":"Kline","sequence":"additional","affiliation":[{"name":"Harvey Institute for Human Genetics, Department of Pediatrics Greater Baltimore Medical Center  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleep.2017.07.014"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102573"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2007.00977.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.28169"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.81.4.333"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038240"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/phar.1686"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2004.12.003"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11316"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/511888"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.019"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22761"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-9036-7_8"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2008.01047.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63247"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30137"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31757"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0031-0"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470724"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-009-9019-6"},{"key":"e_1_2_10_22_1","unstructured":"Li C. 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