{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T11:21:09Z","timestamp":1788175269193,"version":"build-2803163510"},"reference-count":48,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T00:00:00Z","timestamp":1594425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["5R01HD081199\u201006"],"award-info":[{"award-number":["5R01HD081199\u201006"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["SFARI award #198677"],"award-info":[{"award-number":["SFARI award #198677"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Expressive language impairment is one of the most frequently associated clinical features of 16p11.2 copy number variations (CNV). However, our understanding of the language profiles of individuals with 16p11.2 CNVs is still limited. This study builds upon previous work in the Simons Variation in Individuals Project (VIP, now known as Simons Searchlight), to characterize language abilities in 16p11.2 deletion and duplication carriers using comprehensive assessments. Participants included 110 clinically ascertained children and family members (i.e., siblings and cousins) with 16p11.2 BP4\u2010BP5 deletion and 58 with 16p11.2 BP4\u2010BP5 duplication between the ages of 2\u201323\u2009years, most of whom were verbal. Regression analyses were performed to quantify variation in language abilities in the presence of the 16p11.2 deletion and duplication, both with and without autism spectrum disorder (ASD) and cognitive deficit. Difficulties in pragmatic skills were equally prevalent in verbal individuals in both deletion and duplication groups. NVIQ had moderate quantifiable effects on language scores in syntax and semantics\/pragmatics (a decrease of less than 1\n                    <jats:italic>SD<\/jats:italic>\n                    ) for both groups. Overall, language impairments persisted even after controlling for ASD diagnosis and cognitive deficit. Language impairment is one of the core clinical features of individuals with 16p11.2 CNVs even in the absence of ASD and cognitive deficit. Results highlight the need for more comprehensive and rigorous assessment of language impairments to maximize outcomes in carriers of 16p11.2 CNVs.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.b.32809","type":"journal-article","created":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T16:45:38Z","timestamp":1594485938000},"page":"380-391","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Language characterization in 16p11.2 deletion and duplication syndromes"],"prefix":"10.1002","volume":"183","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4269-0866","authenticated-orcid":false,"given":"So Hyun","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Weill Cornell Medicine  White Plains New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LeeAnne","family":"Green\u2010Snyder","sequence":"additional","affiliation":[{"name":"Simons Foundation  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Lord","sequence":"additional","affiliation":[{"name":"Semel Institute for Neuroscience and Behavior University of California Los Angeles  California Los Angeles USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somer","family":"Bishop","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Weill Institute for Neurosciences University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6309-5842","authenticated-orcid":false,"given":"Kyle J.","family":"Steinman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seattle Children's Hospital, University of Washington  Seattle Washington USA"},{"name":"Department of Pediatrics, Seattle Children's Hospital, University of Washington  Seattle Washington USA"},{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Hanson","sequence":"additional","affiliation":[{"name":"Developmental Medicine, Boston Children's Hospital\/Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin P.","family":"Goin\u2010Kochel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Simons Foundation  New York New York USA"},{"name":"Department of Pediatrics Columbia University  New York New York USA"},{"name":"Department of Medicine Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/338241"},{"key":"e_1_2_9_3_1","unstructured":"American Psychiatric Association. (2013).Diagnostic and statistical manual of mental disorders (DSM\u20105\u00ae). American Psychiatric Publishing. Retrieved fromhttp:\/\/books.google.com\/books?hl=en&lr=&id=-JivBAAAQBAJ&oi=fnd&pg=PT18&dq=dsm-5&ots=cdQK11JExd&sig=iOElOWoRZ3IQFhlSqAmWBh_O7A8"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.006"},{"key":"e_1_2_9_5_1","unstructured":"Bishop D. V.(2003).The Children's Communication Checklist: CCC\u20102. San Antonio TX: ASHA."},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0158753"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12721"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-014-2250-3"},{"key":"e_1_2_9_9_1","volume-title":"CASL: Comprehensive assessment of spoken language","author":"Carrow\u2010Woolfolk E.","year":"1999"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1044\/1058-0360(2003\/080)"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.02.014"},{"key":"e_1_2_9_12_1","volume-title":"Differential ability scales","author":"Elliott C. D.","year":"2007"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.149"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069369"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/508902"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092-4388(2010\/09-0125)"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/303034"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31837"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt136"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-016-2807-4"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2014.04.021"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e3181ea50ed"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2015.10.021"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-012-1719-1"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-014-2180-0"},{"key":"e_1_2_9_26_1","volume-title":"Handbook of autism and pervasive developmental disorders","author":"Kim S. H.","year":"2014"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-009-0029-2"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004582"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092-4388(2003\/103)"},{"key":"e_1_2_9_30_1","volume-title":"The autism diagnostic interview\u2010revised (ADI\u2010R)","author":"Le Couteur A.","year":"2003"},{"key":"e_1_2_9_31_1","volume-title":"Autism diagnostic observation schedule: ADOS\u20102","author":"Lord C.","year":"2012"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.009"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.474"},{"key":"e_1_2_9_34_1","first-page":"11","volume-title":"Improving the communication of people with down syndrome","author":"Miller J. F.","year":"1999"},{"key":"e_1_2_9_35_1","volume-title":"Mullen scales of early learning","author":"Mullen E. M.","year":"1995"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1044\/1058-0360(2007\/039)"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(2004)109<208:LACFAA>2.0.CO;2"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0142716405050034"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.05.002"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138659"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-200001000-00014"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073015"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092-4388(2006\/038)"},{"key":"e_1_2_9_44_1","volume-title":"Vineland\u2010II adaptive behavior scales","author":"Sparrow S. S.","year":"2005"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092-4388(2009\/08-0136)"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0802828"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182076c0c"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa075974"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101203"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32809","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.b.32809","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32809","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T09:16:10Z","timestamp":1693905370000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.32809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,11]]},"references-count":48,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/ajmg.b.32809"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.32809","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,11]]},"assertion":[{"value":"2020-03-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}