关键词: 7q11.23 ASD adaptive functioning behavioral phenotype cognitive functioning intellectual disabilities rare genetic syndrome

Mesh : Adolescent Autism Spectrum Disorder / genetics Child Cross-Sectional Studies Humans Longitudinal Studies Williams Syndrome / genetics

来  源:   DOI:10.3390/genes13071266

Abstract:
The last decade has seen a growing number of comparative studies on adaptive profiles between individuals with autism spectrum disorder (ASD) and Williams-Beuren syndrome (WBS), showing shared and syndrome-specific adaptive trajectories. Studies have revealed similarities in global adaptive profiles across conditions, while some differences have been found in preschoolers on the specific sub-domains of communication and socialization. However, the majority of studies that have focused on the differences in adaptive functioning across these two conditions used a cross-sectional design. To the best of our knowledge, there are no studies exploring the differences and similarities of adaptive functioning over time.
We compared longitudinal data of adaptive functioning measured by Vineland Adaptive Behavior Scales (VABS) between two samples of children and adolescents with ASD and WBS, matched for chronological age and cognitive/developmental level at the time of the first evaluation.
We did not find any difference on the global adaptive level, both at the first evaluation and over time. However, significant differences emerged on the socialization and communication levels at the time of recruitment. Longitudinal data show that only the socialization domain remains different over time, with individuals with WBS having better functioning than those with ASD. The results on shared and distinct patterns of adaptive functioning between disorders are discussed from a developmental perspective, thus contributing to the implementation of age-specific interventions.
摘要:
在过去的十年中,关于自闭症谱系障碍(ASD)和威廉姆斯-贝伦综合征(WBS)个体之间适应性特征的比较研究越来越多,显示共享和特定于综合征的自适应轨迹。研究表明,不同条件下的全球适应性特征相似,而学龄前儿童在沟通和社交的特定子领域中发现了一些差异。然而,大多数关注这两种情况下适应性功能差异的研究采用了横截面设计.据我们所知,没有研究探索适应性功能随时间的差异和相似性。
我们比较了两个ASD和WBS儿童和青少年样本之间通过Vineland适应性行为量表(VABS)测量的适应性功能的纵向数据,与首次评估时的实际年龄和认知/发育水平相匹配。
我们在全球适应水平上没有发现任何差异,在第一次评估和随着时间的推移。然而,招聘时,社会化和沟通水平出现了显著差异。纵向数据显示,随着时间的推移,只有社会化领域保持不同,WBS患者的功能比ASD患者更好。从发展的角度讨论了疾病之间适应性功能的共享和不同模式的结果,从而有助于实施针对特定年龄的干预措施。
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