{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:50:15Z","timestamp":1789444215360,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,4,22]],"date-time":"2004-04-22T00:00:00Z","timestamp":1082592000000},"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":[[2004,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deficiency of the <jats:italic>UBE3A<\/jats:italic> gene that encodes E6\u2010AP ubiquitin\u2010protein ligase. Expression of the <jats:italic>UBE3A<\/jats:italic> gene from the maternal chromosome is essential to prevent AS. AS is characterized by severe mental retardation, ataxia, and a defined behavioral pattern characterized mainly by happy\/sociable disposition. This study used the Bayley Scales of Infant Development and the Vineland Adaptive Behavior Scales to examine the cognitive abilities and adaptive behavior of children (n\u2009=\u200920) with the four known molecular classes of AS, including patterns of strengths and weaknesses across adaptive behavior domains, and the relationship between adaptive behavior and overall cognitive abilities. Cognitive skills fell within the severe to profound range of mental deficiency. Differences in cognitive skills according to genetic subtype only partially supported previous research and suggest that there is overlap in abilities across genetic subtypes of AS. Adaptive behavior skills were also significantly delayed, with participants demonstrating a significant strength in socialization, and a weakness in motor skills. Strong, positive correlations emerge between cognitive ability scores and adaptive behaviors scores. These results provide further delineation of a cognitive\/behavioral phenotype in AS. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30065","type":"journal-article","created":{"date-parts":[[2004,4,22]],"date-time":"2004-04-22T16:57:36Z","timestamp":1082653056000},"page":"110-113","source":"Crossref","is-referenced-by-count":89,"title":["Cognitive and adaptive behavior profiles of children with Angelman syndrome"],"prefix":"10.1002","volume":"128A","author":[{"given":"Sarika U.","family":"Peters","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Goddard\u2010Finegold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur L.","family":"Beaudet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niru","family":"Madduri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Turcich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,4,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/14015430117324"},{"key":"e_1_2_6_3_1","volume-title":"Ruth griffiths mental development scale for babies, birth\u20132 years (manual revision)","author":"Association for Research in Infant and Child Development","year":"1996"},{"key":"e_1_2_6_4_1","volume-title":"Bayley scales of infant development","author":"Bayley N","year":"1993"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510109"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026056518470"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.87"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2002.00355.x"},{"key":"e_1_2_6_9_1","first-page":"580","article-title":"Profiles and development of adaptive behavior in children with Down syndrome","volume":"98","author":"Dykens ESM","year":"1994","journal-title":"Am J Mental Retard"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<322::AID-AJMG6>3.0.CO;2-Y"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560324"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-70"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.12.834"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-74"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(2001)106<0082:ABOTYO>2.0.CO;2"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(2002)107<0194:EOEEOS>2.0.CO;2"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<328::AID-AJMG21>3.0.CO;2-M"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.64.1.83"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201679"},{"key":"e_1_2_6_20_1","volume-title":"Vineland adaptive behavior scales, interview edition: Survey form manual","author":"Sparrow SS","year":"1984"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(96)00011-2"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.1995.tb00477.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022991410822"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560224"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30065","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30065","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:15:46Z","timestamp":1700154946000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,22]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,7,15]]}},"alternative-id":["10.1002\/ajmg.a.30065"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30065","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,22]]}}}