Poster Abstracts


Wiedemann-Steiner syndrome (WSS) is a Mendelian disorder of epigenetic machinery caused by heterozygous variants in KMT2A and associated with a high rate of intellectual disability or developmental delay. This study offers an overview of the social characteristics associated with WSS based on parent-report screening measures of social dysfunction. A total of 24 parents of children/adults with WSS (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). Majority of participants were rated in borderline/abnormal ranges in the SDQ Peer Problems (91.30%), yet within normal limits on the Prosocial scale (60.86%). Most participants fell in the moderate/severe difficulties ranges across SRS-2 Social Cognition (79.17%), Social Communication (70.83%), and Restricted and Repetitive Behaviors (79.17%); in contrast to half our sample or less on Social Awareness (50%) and Social Motivation (33.33%). Most participants were also rated over 1.5 standard deviations below a community sample on the CLDQ Social Cognition scale (91.30%). Overall, the social phenotype associated with WSS is characterized by some autistic features juxtaposed with unusual high social drive and prosocial tendencies – highlighting the need for a nuanced approach in the diagnostic assessment of this neurodevelopmental disorder.

First AuthorRowena Ng
Second AuthorHans Tomas Bjornsson
Third AuthorJill A Fahrner
Fourth AuthorJacqueline Harris