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

ABSTRACT: 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 an

SUBMITTER: Walkowiak D 

PROVIDER: S-EPMC11845487 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature