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The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality |
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| Authors: | Rowena Ng Allison Kalinousky Jill A. Fahrner Hans Tomas Bjornsson Jacqueline Harris |
| Affiliation: | 1. Kennedy Krieger Institute, Baltimore, Maryland, USA;2. Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA;3. Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA;4. Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Faculty of Medicine, University of Iceland, Reykjavik, Iceland Landspitali University Hospital, Reykjavik, Iceland;5. Kennedy Krieger Institute, Baltimore, Maryland, USA Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA |
| 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. |
| Keywords: | autism spectrum disorder genetics/genetic disorders KMT2A social motivation social phenotype |