{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T23:54:01Z","timestamp":1768694041644,"version":"3.49.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T00:00:00Z","timestamp":1416182400000},"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":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>The diagnosis of Angelman syndrome (AS) is based on clinical features and genetic testing. Developmental delay, severe speech impairment, ataxia, atypical behavior and microcephaly by two years of age are typical. Feeding difficulties in young infants and obesity in late childhood can also be seen. The NIH Angelman\u2010Rett\u2010Prader\u2010Willi Consortium and others have documented genotype\u2013phenotype associations including an increased body mass index in children with uniparental disomy (UPD) or imprinting center (IC) defects. We recently encountered four cases of infantile obesity in non\u2010deletion AS cases, and therefore examined body mass measures in a cohort of non\u2010deletion AS cases. We report on 16 infants and toddlers (ages 6 to 44 months; 6 female, and 10 male) with severe developmental delay. Birth weights were appropriate for gestational age in most cases, &gt;97th% in one case and not available in four cases. The molecular subclass case distribution consisted of: UPD (n\u2009=\u20092), IC defect (n\u2009=\u20093), UPD or IC defect (n\u2009=\u20093), and <jats:italic>UBE3A<\/jats:italic> mutation (n\u2009=\u20098). Almost all (7 out of 8) UPD, IC and UPD\/IC cases went on to exhibit &gt;90th% age\u2010 and gender\u2010appropriate weight for height or BMI within the first 44 months. In contrast, no <jats:italic>UBE3A<\/jats:italic> mutation cases exhibited obesity or pre\u2010obesity measures (percentiles ranged from &lt;3% to 55%). These findings demonstrate that increased body mass may be evident as early as the first year of life and highlight the utility of considering the diagnosis of AS in the obese infant or toddler with developmental delay, especially when severe. Although a mechanism explaining the association of UPD, and IC defects with obesity has not been identified, recognition of this correlation may inform investigation of imprinting at the PWS\/AS locus and obesity. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36831","type":"journal-article","created":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T15:46:00Z","timestamp":1416239160000},"page":"142-146","source":"Crossref","is-referenced-by-count":20,"title":["Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects"],"prefix":"10.1002","volume":"167","author":[{"given":"Marie\u2010Luise","family":"Brennan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Stanford School of Medicine Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret P.","family":"Adam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington School of Medicine Seattle  Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[{"name":"Kapiolani Medical Specialties University of Hawaii John A. 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