Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

Abstract

Background: Christianson syndrome is a rare X-linked disorder characterized by intellectual and developmental disability, epilepsy, and regressions, requiring lifelong care. This study explored family experiences and treatment priorities from the caregiver perspectives. Methods: Qualitative semistructured interviews were conducted with 18 caregivers of 20 patients (aged 4-29 years) to discuss symptom onset, diagnosis, progression, coping, and priorities. Transcripts were thematically analyzed. Results: Initial symptoms included seizures, delayed developmental milestones, and lack of speech. Caregivers described sadness, anger, and feeling overwhelmed after diagnosis. Concerns included seizures, communication challenges, and sleep disruptions. Only half reported robust support networks. Coping strategies included exercise, work, and partner support. Despite challenges, caregivers highlighted the happy, affectionate demeanors of the children. Caregivers emphasized connecting with other families and prioritized treatments for seizures, communication, and preventing regressions. Conclusions: These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.