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

Abstract

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.

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature

“…These findings, along with reports of prolonged eye gaze and heightened social anxiety in CdLS (Collis et al, 2006; Goodban, 1993), suggest that the profile of social impairments in CdLS may be different to that observed in ASD. With regard to RTS, recent research conducted following this review has indicated the benefit of examining autism characteristics and social characteristics at this level of fine‐grained description indicating nuanced differences to those observed in ASD (Adrien et al, 2021; Ellis et al, 2021; Taupiac et al, 2021).…”

Combined extended reality and reinforcement learning to promote healthcare and reduce social anxiety in fragile X syndrome: a new assessment tool and a rehabilitative strategy

“…With the illustrative examples detailed above, one can differentiate between an individual who is capable of managing his/her emotional states and an individual who is at risk of social anxiety (i.e., social value). Once differentiated, one might propose a rehabilitative intervention with further experimental conditions (i.e., see above) to promote adaptive responding and constructive engagement in individuals with FXS (Caffò et al, 2016 ; Raspa et al, 2020 ; Ellis et al, 2021 ). To enhance the reader's ability to follow the logic with each possible outcome, we inserted a graphical representation of the proposed functioning in Figure 1 .…”

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

“…Neurodevelopmental disorders such as autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay, are common neurological conditions affecting the typical developmental trajectory [ 1 ]. With the rise of readily available genetic testing and the increasing awareness of treatable causes for ID [ 2 ], the recognition of genetic etiologies among these common conditions is increasing, including the identification of monogenic etiologies [ 3 , 4 ]. Further, next generation sequencing techniques have allowed for discovery of new disease-causing genes, necessitating re-analysis of exome data over time.…”