{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T15:29:12Z","timestamp":1788881352826,"version":"build-2803163510"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T00:00:00Z","timestamp":1727222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["(Ricerca Corrente 2023\u20102024, Scientific Institute, IRCCS E. Medea, to R.M.)"],"award-info":[{"award-number":["(Ricerca Corrente 2023\u20102024, Scientific Institute, IRCCS E. Medea, to R.M.)"]}],"id":[{"id":"10.13039\/501100003196","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":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Although Beckwith\u2013Wiedemann syndrome spectrum (BWSp) is not usually associated with intellectual disability, recent evidences calls for further investigation of cognitive development and academic skills in children with BWSp. Moreover, research has documented social difficulties and emotional\u2010behavioral problems associated with BWSp. Nevertheless, a full characterization of socio\u2010emotional development in BWSp is still lacking. In the current study, cognitive and socio\u2010emotional development was assessed in 29 children with BWSp aged 5\u201318\u2009years, using a test of nonverbal intelligence, a neuropsychological battery covering multiple domains, academic skills tests, and questionnaires evaluating autistic traits and emotional\u2010behavioral problems. As expected, most participants showed adequate performance in cognitive tests. However, the findings also highlighted greater difficulties in language than visuospatial processing, strengths in social perception, as well as slowness in reading and mental calculation. The assessment of emotional\u2010behavioral difficulties indicated a prevalent phenotype characterized by increased anxiety, low self\u2010esteem, social withdrawal and a tendency to control externalizing reactions, but no associations with autistic traits, cognitive outcomes, and the clinical score proposed by the recent Consensus statement. Increased social perception and internalization problems likely result from coping strategies with social and care\u2010related stress. Overall, the findings of this study inform clinical management and genetic counseling for children and adolescents with BWSp.<\/jats:p>","DOI":"10.1002\/ajmg.b.33006","type":"journal-article","created":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T13:29:54Z","timestamp":1727270994000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Cognitive, Social, and Emotional\u2010Behavioral Outcomes in Children and Adolescents With Beckwith\u2013Wiedemann Syndrome"],"prefix":"10.1002","volume":"198","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5511-4342","authenticated-orcid":false,"given":"Niccol\u00f2","family":"Butti","sequence":"first","affiliation":[{"name":"Scientific Institute, IRCCS E. Medea, 0\u20103 Centre for the at\u2010Risk Infant  Bosisio Parini Lecco Italy"},{"name":"PhD Program in Neural and Cognitive Sciences, Department of Life Sciences University of Trieste  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cosimo","family":"Urgesi","sequence":"additional","affiliation":[{"name":"Scientific Institute, IRCCS E. Medea  Pasian di PratoUdine Italy"},{"name":"Laboratory of Cognitive Neuroscience, Department of Languages and Literatures, Communication, Education and Society University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Mussa","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences School of Medicine, University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Montirosso","sequence":"additional","affiliation":[{"name":"Scientific Institute, IRCCS E. Medea, 0\u20103 Centre for the at\u2010Risk Infant  Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-79948-3_1529"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.JAAC.2016.05.012"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/S10803\u2010007\u20100504\u2010Z\/TABLES\/4"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/JOURNAL.PONE.0210448"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.JAAC.2015.03.016"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/S10803\u2010006\u20100073\u20106\/TABLES\/4"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0010\u20100277(85)90022\u20108"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015\u20102475"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2017.166"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2017.11.002"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/children9040551"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/GENES12020172"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010clinpsy\u2010032511\u2010143108"},{"key":"e_1_2_11_15_1","volume-title":"Prove MT\u20103\u2010Clinica per la scuola primaria e secondaria di I grado","author":"Cornoldi C.","year":"2016"},{"key":"e_1_2_11_16_1","volume-title":"Act\u2010MT\u20103","author":"Cornoldi C.","year":"2020"},{"key":"e_1_2_11_17_1","volume-title":"Prove MT Avanzate\u20103\u2010clinica per il biennio della scuola secondaria di II grado","author":"Cornoldi C.","year":"2017"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/IJE\/DYAA047"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/children11030342"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32046"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/S10897\u2010017\u20100182\u20108\/TABLES\/5"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1027\/1015\u20105759.20.2.124"},{"issue":"1","key":"e_1_2_11_23_1","first-page":"24","article-title":"La valutazione dei problemi emotivo comportamentali in un campione italiano di bambini in eta prescolare attraverso la Child Behavior Checklist e il Caregiver Teacher Report Form","volume":"5","author":"Frigerio A.","year":"2006","journal-title":"Infanzia e Adolescenza"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12162"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.36045"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.37881"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30729"},{"key":"e_1_2_11_28_1","volume-title":"NEPSY\u2014Second Edition (NEPSY\u2010II)","author":"Korkman M.","year":"2007"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyg.2013.00863"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.63114"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469\u20107610.00615"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyg.2016.00683"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.11.008"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.36080"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/BJHP.12534"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/jsr042"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/jsr106"},{"key":"e_1_2_11_38_1","volume-title":"Revised Manual for Raven's Progressive Matrices and Vocabulary Scale","author":"Raven J. C.","year":"1982"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.psych.60.110707.163642"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.ACN.2005.05.001"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010011\u20101290\u20101"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1597\/10\u2010232"},{"key":"e_1_2_11_43_1","article-title":"Beckwith\u2013Wiedemann Syndrome","author":"Shuman C.","year":"2023","journal-title":"GeneReviews\u00ae [Internet]"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/JMG.34.10.819"},{"key":"e_1_2_11_45_1","volume-title":"NEPSY\u2010II, Contributo Alla Taratura Italiana","author":"Urgesi C.","year":"2011"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00127\u2010017\u20101422\u20109\/METRICS"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.3389\/FPED.2019.00562\/BIBTEX"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.JPAIN.2014.02.001"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/JPEPSY\/JSAA028"}],"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.33006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T05:58:05Z","timestamp":1739253485000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.33006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,25]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/ajmg.b.33006"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.33006","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,25]]},"assertion":[{"value":"2024-04-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e33006"}}