Introduction: This thesis explores the parental needs of children diagnosed with Beckwith-Wiedemann Syndrome. Purpose: The aim of the thesis was to examine parents’ self-assessed needs for professional support following a Beckwith-Wiedemann Syndrome diagnosis in Slovenia, to gain insight into the challenges these families face, and to identify areas where additional professional, emotional, and informational support is required. Methods: We conducted a cross-sectional study involving parents of children with Beckwith-Wiedemann Syndrome using a structured questionnaire. A mixed-methods approach was applied, combining both quantitative and qualitative data. A total of 12 parents participated in the study, including 58.3% mothers and 41.7% fathers. Results: Data analysis revealed five key findings. Parents reported their greatest need is for support in understanding the Beckwith-Wiedemann Syndrome diagnosis, followed by emotional support. Collaboration with healthcare professionals was rated as moderately satisfactory. However, parents frequently relied on informal sources, such as social media, to obtain information, while professional sources were consulted less often. The overall need for support was rated as moderate to high (x̄ = 41.3/100). Discussion and conclusion: The results are consistent with similar international studies, indicating systemic gaps in the provision of accessible, high-quality, and comprehensible information and psychosocial support. The thesis proposes the development of a comprehensive information system, the inclusion of a psychologist in the interdisciplinary team, the establishment of support groups for parents, the enhancement of healthcare professionals' competencies, and the streamlining of procedures for exercising legal rights.
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