Sadhwani Anjali, Wheeler Anne, Gwaltney Angela, Peters Sarika U, Barbieri-Welge Rene L, Horowitz Lucia T, Noll Lisa M, Hundley Rachel J, Bird Lynne M, Tan Wen-Hann
Department of Psychiatry, Boston Children's Hospital, Boston, MA, 02115, USA.
Harvard Medical School, Boston, MA, USA.
J Autism Dev Disord. 2023 Feb;53(2):720-737. doi: 10.1007/s10803-020-04861-1. Epub 2021 Jan 30.
We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar.
我们运用贝利婴幼儿发展量表第三版描述了236名天使综合征（AS）患儿的发育情况。采用多级线性混合建模方法来探究分子亚型之间以及随时间推移的差异。基于年龄当量分数，AS患儿至少在12岁前发育仍持续缓慢增长，约为每年1 - 2个月；根据分子亚型和领域不同，每年增长1 - 16个生长评分点。缺失型患儿在基线时得分较低，技能获得速度较慢，而UBE3A变异亚型患儿在所有领域的得分较高，技能获得速度也更快。单亲二倍体（UPD）和印记缺陷（ImpD）的发育概况相似。
