Behavioral Profiles and Social Relationships in Wiedemann-Steiner Syndrome: Parent Reports on 25 Cases

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.