Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases

Parenting a child with rare paediatric neurological diseases (RPNDs) severely affects parents' quality of life and the caregiver burden. Since mothers tend to be the primary caregivers more often, this study focuses on previously unexplored experiences of mothers of four RPNDs: 22q11.2 deletion syndrome (22q11.2DS), Angelman syndrome (AS), Dravet syndrome (DS) and Williams syndrome (WS). A cross-sectional survey of 302 mothers revealed that, while caring for RPND children seriously impacts well-being and stress in all mothers, there also exist some significant differences in diagnostic experiences, quality of life and the caregiver burden across conditions. DS and AS mothers reported difficulties in the access to and reimbursement for modern genetic testing and psychological support. DS and WS mothers were concerned over the impact of the delayed diagnosis on unnecessary hospitalisations and medication in their children. 22q11.2DS mothers felt more supported than others. While DS and AS mothers reported a greater burden in caregiving and reduced quality of life, WS mothers reported significantly lower burdens and higher scores across all quality-of-life domains. Mothers' financial well-being, employment status and early diagnosis significantly influenced their experiences. These findings underscore the need for tailored support for RPND mothers, with a focus on early diagnosis and financial and psychological help.