Yuill Nicola, Elphick Camilla, Marshall Jess, Jones Wendy D, Waite Jane, Viner Hannah
School of Psychology, University of Sussex, Pevensey Building, Brighton, BN1 9QH, UK.
School of Psychology and Counselling, The Open University, Milton Keynes, UK.
Orphanet J Rare Dis. 2025 Apr 2;20(1):154. doi: 10.1186/s13023-025-03643-1.
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.
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.
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.
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.
维德曼-施泰纳综合征（WSS）是一种罕见的、具有多种表现的神经发育疾病，与发育迟缓、智力障碍和先天性异常有关。关于其行为特征的研究较少。重要的是，尤其缺乏家长的观点。本研究通过家长的生活经历视角，调查了行为特征的共性。
我们对美国和英国的25位WSS患儿家长进行了深入访谈，挖掘生活经历以及行为、人际关系和沟通方面的具体事例。使用反思性主题分析法对回答进行分析。
我们报告了三个主要主题：强烈的社交性（证实了基于问卷的研究）、强烈的人际关系和执行功能失调（新发现）。我们还发现了此前未报告的感官敏感性以及记忆不均衡和理解能力差的认知模式。
这些直接来自家长经历的数据揭示了该群体在行为和人际关系方面新的共性。研究结果应为临床评估和诊断、新的研究问题以及以患者为中心的临床干预结果测量指标的选择提供参考。这些发现还有助于改善为WSS患者及其家庭提供护理和支持的实践，并为更具针对性的教育和更好的医疗保健提供指导方针。
