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《Williams-Beuren 综合征与自闭症谱系障碍儿童适应功能的比较:跨综合征研究》

Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study.

机构信息

Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

出版信息

Autism Res. 2021 Apr;14(4):748-758. doi: 10.1002/aur.2455. Epub 2020 Dec 11.

Abstract

Williams Beuren syndrome (WBS) and autism spectrum disorder (ASD) have been long considered as "polar opposite" disorders. Although children with WBS appears to be hypersociable, recent researches have revealed difficulties in socio-communicative skills such as shared attention, showing or giving objects, social relationships comprehension, pragmatic use of language, and emotion's recognition. The aim of this cross-syndrome study is to compare clinician-report adaptive profiles of two wide developmental range children by means of Vineland Adaptive Behavior Scales-Interview Edition, Survey Form. Eighty individuals, 40 with WBS and 40 with ASD (31 preschoolers and 49 scholars) with ASD and WBS matched for chronological age and developmental/cognitive level were recruited. Analysis of domains and subdomains have been reported. Results showed no significant difference in global adaptive level between WBS and ASD in both preschooler and scholar children. Communication domain significantly differ in preschoolers (higher in WBS children), but not in scholars. Expressive subdomain significantly differ in both preschoolers and scholars (higher in WBS children). Play and Leisure subdomain significantly differ in scholars (higher in WBS children), but not in preschoolers. Our results support hypothesis on a shared global adaptive impairment in children with WBS and ASD, by extending this findings to scholar-age children. Analysis of domains and subdomains differences highlight the need for interventions targeting social-pragmatic skills since first years of life. Differences in preschoolers and scholars adaptive profiles could be explained through a developmental perspective. LAY SUMMARY: Little is known about differences in adaptive profiles between Williams Beuren syndrome and autism spectrum disorder. Our results show similarities in global adaptive level and difference in communication level. Furthermore, expressive skills seem to be higher in Williams Beuren Syndrome. Autism Res 2021, 14: 748-758. © 2020 International Society for Autism Research and Wiley Periodicals LLC.

摘要

威廉姆斯综合征(WBS)和自闭症谱系障碍(ASD)长期以来一直被认为是“截然相反”的疾病。尽管 WBS 患儿似乎过度社交,但最近的研究表明,他们在社交沟通技能方面存在困难,例如共同注意力、展示或给予物体、社会关系理解、语言的实用语用、情感识别。本跨综合征研究旨在通过使用韦氏儿童智力量表第四版(中文版),比较两组广泛发育范围的儿童的临床报告适应性特征。共招募了 80 名个体,40 名 WBS 患儿和 40 名 ASD 患儿(31 名学龄前儿童和 49 名学龄儿童),按年龄和发育/认知水平匹配。报道了对领域和子领域的分析。结果显示,学龄前儿童和学龄儿童的 WBS 和 ASD 之间的整体适应性水平没有显著差异。学龄前儿童的沟通领域存在显著差异(WBS 儿童较高),但学龄儿童没有。学龄前儿童和学龄儿童的表达子领域存在显著差异(WBS 儿童较高)。学者中的游戏和休闲子领域存在显著差异(WBS 儿童较高),但学龄前儿童没有。我们的结果支持了 WBS 和 ASD 儿童存在共同的整体适应性损伤的假设,将这一发现扩展到了学龄儿童。领域和子领域差异的分析强调了需要针对社会语用技能进行干预,从儿童的早期开始。学龄前儿童和学者适应性特征的差异可以通过发展视角来解释。

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