神经发育障碍相关孤独症谱系障碍的早期社会认知技能发育：Cornelia de Lange、脆性 X 综合征和 Rubinstein-Taybi 综合征。
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.
机构信息
School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.
School of Psychology, University of Surrey, Guildford, Surrey, GU26 7XH, UK.
出版信息
Orphanet J Rare Dis. 2021 Nov 22;16(1):488. doi: 10.1186/s13023-021-02117-4.
BACKGROUND
Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein-Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cognitive abilities in children with CdLS, FXS and RTS was compared to that observed in typically developing (TD) and autistic (AUT) children.
METHODS
Children with CdLS (N = 22), FXS (N = 19) and RTS (N = 18), completed the Early Social Cognition Scale (ESCogS). Extant data from AUT (N = 19) and TD (N = 86) children were used for comparison.
RESULTS
Similar to AUT children, children with CdLS, FXS and RTS showed an overall delay in passing ESCogS tasks. Children with CdLS showed a similar degree of delay to AUT children and greater delay than children with FXS and RTS. The CdLS, FXS and RTS groups did not pass tasks in the same sequence observed in TD and AUT children. Children with CdLS (p = 0.04), FXS (p = 0.02) and RTS (p = 0.04) performed better on tasks requiring understanding simple intentions in others significantly more than tasks requiring joint attention skills.
CONCLUSIONS
An underlying mechanism other than general cognitive delay may be disrupting early social cognitive development in children with CdLS, FXS and RTS. Factors that may disrupt early social cognitive development within these syndromes are discussed.
背景
Cornelia de Lange 综合征（CdLS）、脆性 X 综合征（FXS）和 Rubinstein-Taybi 综合征（RTS）均具有独特的自闭症特征表现。为了进一步描绘这些特征，我们比较了 CdLS、FXS 和 RTS 患儿与典型发育（TD）和自闭症（AUT）儿童早期社会认知能力的发展情况。
方法
22 名 CdLS 患儿、19 名 FXS 患儿和 18 名 RTS 患儿完成了早期社会认知量表（ESCogS）的测试。同时，我们还利用了先前 AUT 患儿（N=19）和 TD 患儿（N=86）的数据进行比较。
结果
与 AUT 患儿相似，CdLS、FXS 和 RTS 患儿在 ESCogS 任务中的整体完成情况存在延迟。与 FXS 和 RTS 患儿相比，CdLS 患儿的延迟程度与 AUT 患儿相似，且更为严重。此外，CdLS、FXS 和 RTS 患儿并没有按照 TD 和 AUT 患儿那样的顺序完成任务。CdLS 组（p=0.04）、FXS 组（p=0.02）和 RTS 组（p=0.04）在需要理解他人简单意图的任务中的表现显著优于需要共同注意力技能的任务。
结论
除了一般认知延迟之外，可能还有其他因素干扰了 CdLS、FXS 和 RTS 患儿的早期社会认知发展。我们还讨论了可能会破坏这些综合征早期社会认知发展的因素。
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