Abstract

BackgroundCornelia 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.MethodsChildren 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.ResultsSimilar 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.ConclusionsAn 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.

Highlights

  • Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics

  • The aim of the current study is to examine the development of early social cognitive abilities in children with Cornelia de Lange syndrome (CdLS), Fragile X syndrome (FXS) and RTS, syndromes associated with different profiles of autistic characteristics

  • Individuals with FXS and RTS showed greater development of early social cognitive ability compared to AUT children and children with CdLS

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Summary

Introduction

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. Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein–Taybi (RTS) syndromes are rare neurodevelopmental conditions of genetic cause. Full mutation FXS is caused by a sequence of 200 or more cytosine-guanine-guanine (CGG) trinucleotide repetitions on chromosome Xq27.3. RTS is caused by de novo deletions [12] or heterozygous mutations [13] on CREBBP and EP300 genes on chromosome 16p.13.3 and affects between 1:100,000 and 720,000 newborns [14]

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