The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality

Abstract

The aim of this study was to provide a descriptive overview of the social characteristics associated with Wiedemann‐Steiner syndrome (WSS). A total of 24 parents of children/adults with WSS (11F, mean age = 12.94 years, SD = 8.00) completed the Social Responsiveness Scale 2nd Edition (SRS‐2); Colorado Learning Difficulties Questionnaire (CLDQ) and Strengths and Difficulties Questionnaire (SDQ). Almost half our sample reported a diagnosis of autism spectrum disorder (ASD) and 70% had intellectual disability. On the SDQ, over 90% of participants were rated in borderline/clinical ranges in Peer Problems, yet the majority fell within normal limits in Prosocial Behaviors. Most fell in the moderate/severe difficulties ranges across SRS‐2 Social Cognition, Communication, and Restricted/Repetitive Behaviors scales (all >70%); whereas substantially less participants met these ranges for deficits in Social Awareness (50%) and Social Motivation (33.33%). A pattern of relatively strong prosocial skills and social drive in the context of difficulties with inflexible behaviors, social cognition, and communication was observed, regardless of gender, ASD or intellectual disability diagnosis. The social phenotype associated with WSS is characterized by some autistic features paired with unusually high social motivation and prosocial tendencies.

In-uterorescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

“…Disruption of these transcription factors has previously been linked to defects in hippocampal neurogenesis [26], [27] as well as being associated with intellectual disability and autism-spectrum-disorder (ASD) [28][29]. Since up to 50% of WDSTS patients have ASD [30], we compared the rescued genes to known ASD-risk genes [31] and discovered a significant overlap of 26 genes (p-value < 0.0001, Fisher's exact test, Figure 3F). Interestingly, Kmt2a was not among the significant DEGs in this dataset.…”