4.5 Article

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes

期刊

ORPHANET JOURNAL OF RARE DISEASES
卷 16, 期 1, 页码 -

出版社

BMC
DOI: 10.1186/s13023-021-02117-4

关键词

Development; Intellectual disability; Rare systemic diseases; Autism; Cornelia de Lange syndrome; Fragile X syndrome; Rubinstein-Taybi syndrome; Social cognition

资金

  1. Leverhulme Trust [RPG-2012-744]

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Children with CdLS, FXS and RTS show delays in early social cognitive development similar to autistic children, with CdLS children showing the greatest delay. Differences in task performance suggest a disruption in social cognitive development in these syndromes beyond general cognitive delays, highlighting the need for further exploration of underlying mechanisms.
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.

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