Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases

Nicola Yuill; Camilla Elphick; Jess Marshall; Wendy D. Jones; Jane Waite; Hannah Viner

doi:10.1186/s13023-025-03643-1

Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases

Nicola Yuill, Camilla Elphick, Jess Marshall, Wendy D. Jones, Jane Waite, Hannah Viner

School of Psychology

Research output: Contribution to journal › Article › peer-review

Abstract

Background: Wiedemann-Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few investigations into behavioral characteristics. Importantly, parental perspectives are particularly lacking. This study investigated commonalities in the behavioral characteristics through the perspectives of parents' lived experiences. Method: We conducted in-depth interviews with 25 parents of children with WSS in the United States and United Kingdom, tapping lived experience and specific examples of behavior, relationships and communication. Responses were analysed using reflexive thematic analysis. Results: We report three main themes: intense sociability (confirming questionnaire-based research), intense relationships and executive dysregulation (novel findings). We also found previously unreported sensory sensitivities and cognitive patterns of uneven memory and poor comprehension. Conclusions: These data direct from parent experience reveal novel commonalities in behavior and relationships in this group. Findings should inform clinical assessment and diagnosis, new research questions and choice of patient-focused outcome measures for clinical interventions. The findings also contribute to improved practice in providing care and support for people with WSS and their families and to guidelines for more tailored education and improved healthcare.

Original language	English
Article number	154
Number of pages	11
Journal	Orphanet Journal of Rare Diseases
Volume	20
Issue number	1
Early online date	2 Apr 2025
DOIs	https://doi.org/10.1186/s13023-025-03643-1
Publication status	E-pub ahead of print - 2 Apr 2025

Bibliographical note

Copyright © The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Data Access Statement

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available as they contain information that could compromise the privacy of research participants.

Keywords

Autism
Social Relationships
Behavioral Profile
Wiedemann–Steiner Syndrome (WSS)
Genetic Disorders
KMT2A

Access to Document

10.1186/s13023-025-03643-1Licence: CC BY 4.0

N Yuill et al_Behavioral profiles and social relationships in Wiedemann–Steiner syndrome_parent reports on 25 cases
Copyright © The Author(s) 2025. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.
Final published version, 0.98 MBLicence: CC BY 4.0

Cite this

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abstract = "Background: Wiedemann-Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few investigations into behavioral characteristics. Importantly, parental perspectives are particularly lacking. This study investigated commonalities in the behavioral characteristics through the perspectives of parents' lived experiences. Method: We conducted in-depth interviews with 25 parents of children with WSS in the United States and United Kingdom, tapping lived experience and specific examples of behavior, relationships and communication. Responses were analysed using reflexive thematic analysis. Results: We report three main themes: intense sociability (confirming questionnaire-based research), intense relationships and executive dysregulation (novel findings). We also found previously unreported sensory sensitivities and cognitive patterns of uneven memory and poor comprehension. Conclusions: These data direct from parent experience reveal novel commonalities in behavior and relationships in this group. Findings should inform clinical assessment and diagnosis, new research questions and choice of patient-focused outcome measures for clinical interventions. The findings also contribute to improved practice in providing care and support for people with WSS and their families and to guidelines for more tailored education and improved healthcare.",

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AU - Viner, Hannah

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ER -

Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases

Abstract

Bibliographical note

Data Access Statement

Keywords

Access to Document

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