Dysautonomia and functional impairment in rare developmental and epileptic encephalopathies: the other nervous system

Aim To determine whether functional impairments and autonomic symptoms are correlated in young people with developmental and epileptic encephalopathies (DEEs). Method Cross-sectional, online surveys (2018-2020) of parents recruited from family groups obtained information on several aspects of children's conditions including functional abilities (mobility, hand use, eating, and communication), 18 autonomic symptoms in six groups (cardiac, respiratory, sweating, temperature, gastrointestinal, and other), and parental stress. Bivariate and multivariable logistic regression analyses examined associations of dysautonomias with functional impairment, adjusted for type of DEE and age. Results Of 313 participants with full information on function and dysautonomias, 156 (50%) were females. The median age was 8 years (interquartile range 4-12y); 255 (81%) participants had symptoms in at least one autonomic symptom group; 283 (90%) had impairment in at least one functional domain. The number of functional impairment domains and of autonomic symptom groups varied significantly across DEE groups (both p<0.001). The number of functional impairment domains and of autonomic symptom groups were correlated (Spearman's r=0.35, p<0.001) on bivariate and multivariable analysis adjusted for DEE group and age. Parental stress was also independently correlated with dysautonomias (p<0.001). Interpretation Parent-reported dysautonomias are common in children with DEEs. They correlate with extent of functional impairment and may contribute to caregiver stress.

Automated summary

The study revealed a correlation between functional impairments and autonomic symptoms in young people with DEEs, with these symptoms also contributing to parental stress. This correlation poses challenges for caregivers of children with DEEs.