Background: Coffin-Siris Syndrome (CSS) is a rare genetic disorder caused by de novo mutations in the BAF-complex, resulting in severe developmental delays. Despite insights from case studies, the...Show moreBackground: Coffin-Siris Syndrome (CSS) is a rare genetic disorder caused by de novo mutations in the BAF-complex, resulting in severe developmental delays. Despite insights from case studies, the relationship between developmental characteristics of CSS-affected children and parental caregiving burden remains underexplored. Method: This study mainly aimed to investigate to what extent language proficiency and adaptive functioning predict the parental caregiving burden for CSS-affected children, whilst accounting for the chronological age of the children. Data were collected using standardized questionnaires to assess language proficiency (PPVT, CELF-4-NL, CELF-Preschool-2-NL), adaptive functioning (ABAS-3-NL) and parental caregiving burden (OBVL). The sample included 26 CSS-affected children aged 4-18 years (M = 10.30 years, SD = 4.23 years), recruited from the LUMC expert clinic and patient associations in the Netherlands and Belgium. Results: Language comprehension did not correlate significantly with parental caregiving burden. The correlation remained non-significant after controlling for chronological age. Similar patterns were observed between language comprehension and adaptive functioning and between adaptive functioning and caregiving burden. Chronological age significantly correlated positively with language comprehension (r = 0.43, p = 0.04), and a trend was observed for a negative correlation between age and adaptive functioning (r = -0.39, p = 0.08). Hierarchical regression analyses indicated that neither language comprehension nor adaptive functioning significantly predicted parental caregiving burden (R² = 0.13; F(2,15) = 1.130; p = .349). even after controlling for chronological age (R² = 0.148; F(3,15) = 1.199, p = .315). Conclusion: Despite exploring language proficiency, adaptive functioning, and chronological age in CSS-affected children, no significant predictors were identified for parental caregiving burden. Further research is needed to deepen our understanding of the developmental trajectories and caregiving dynamics within CSS-affected families.Show less
