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

Rowena Ng*, Allison Kalinousky, Jill A. Fahrner, Hans Tómas Björnsson, Jacqueline Harris

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2591-2601
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume191
Issue number10
DOIs
Publication statusPublished - Oct 2023

Bibliographical note

Funding Information:
We would like to thank the patients and their families who participated in this study, as well as acknowledging the support of the Wiedemann-Steiner Syndrome Foundation.

Funding Information:
Rowena Ng and Hans Tomas Bjornsson are supported by grants from the Wiedemann‐Steiner Syndrome Foundation. Jill A. Fahrner receives support from the National Institutes of Child Health and Development (K08HD086250) and the Maryland Stem Cell Research Fund; Hans Tomas Bjornsson from Louma G. Foundation, Icelandic Research Fund (195835, 206806, 217988) and Icelandic Technological Development Fund (2010588); and Jacqueline Harris from Kabuki Syndrome Foundation, Rubinstein‐Taybi Syndrome Children's Foundation, Sekel‐Bredenstein Fund, and the National Institute of Child Health and Development (K23HD101646). This study was also supported by NIH P50HD103538 and UL1 TR003098.

Publisher Copyright:
© 2023 Wiley Periodicals LLC.

Other keywords

  • autism spectrum disorder
  • genetics/genetic disorders
  • KMT2A
  • social motivation
  • social phenotype

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