A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations
复制标题
DOI：
10.1097/dbp.0b013e3181ee408e
复制
发表时间：
2010-09-01
影响因子：
2.4
通讯作者：
Peters, Sarika U.
中科院分区：
文献类型：
--
作者：
Gentile, Jennifer K.;Tan, Wen-Hann;Peters, Sarika U.
目的：Angelman综合征（AS）是一种由15号染色体缺失、单亲二体、印迹缺陷或UBE3A突变引起的神经发育障碍。它的特点是智力残疾，言语能力和某些行为特征很少。我们使用标准化的方法来描述AS的发育特征并分析基因型-表型相关性。方法：研究人群包括92名5个月至5岁的儿童，他们参加了一项自然历史研究。每位参与者使用Bayley婴幼儿发展量表第三版（BSID-III）、Vineland适应行为量表第二版（VABS-II）和异常行为检查表进行评估。结果：74%的人有缺失，26%的人有单亲二体，印记缺陷或UBE3A突变（“非缺失”）。BSID-III认知量表发展商（DQ）的平均±标准差为40.5±15.5。除语言表达能力外，缺失者在所有BSID-III领域的发育延迟均高于非缺失者。认知DQ高于其他各领域的DQ，接受性语言DQ高于表达性语言DQ。VABS-II，删除参与者的运动和语言技能比未删除的参与者弱。结论：AS患儿具有明显的发育和行为特征；他们的认知能力强于语言和运动能力，他们的接受性语言能力强于表达性语言能力。发育结局与基因型相关，缺失患者的结局比非缺失患者差。
Objective: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS. Method: The study population consisted of 92 children, between 5 months and 5 years of age, enrolled in a Natural History Study. Each participant was evaluated using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), the Vineland Adaptive Behavior Scales, Second Edition (VABS-II), and the Aberrant Behavior Checklist. Results: Seventy-four percent had a deletion and 26% had uniparental disomy, an imprinting defect or a UBE3A mutation ("nondeletion"). The mean +/- standard deviation BSID-III cognitive scale developmental quotient (DQ) was 40.5 +/- 15.5. Participants with deletions were more developmentally delayed than the non-deletion participants in all BSID-III domains except in expressive language skills. The cognitive DQ was higher than the DQ in each of the other domains, and the receptive language DQ was higher than the expressive language DQ. VABS-II, deletion participants had weaker motor and language skills than the non-deletion participants. Conclusion: Children with AS have a distinct developmental and behavioral profile; their cognitive skills are stronger than their language and motor skills, and their receptive language skills are stronger than expressive language skills. Developmental outcomes are associated with genotype, with deletion patients having worse outcomes than non-deletion patients.