Exploring sleep challenges in CDKL5 Deficiency Disorder

Sleep disturbance is a common and significant issue for individuals with CDKL5 Deficiency Disorder (CDD) and their families. The study aimed to investigate experiences of sleep disturbance in CDD and associated factors. Data were sourced from the baseline and follow-up questionnaires completed by caregivers of 258 individuals in the International CDKL5 Disorder Database. Outcome variables were scaled scores for selected domains of the Sleep Disturbance Scale for Children: Disorders of Maintaining Sleep (DIMS), Disorders of Excessive Somnolence (DOES), Sleep Breathing Disorders (SBD), and Sleep-Wake Transition Disorders (SWTD). For DIMS and SBD, t scores were calculated and dichotomised into high (≥ 70) and low (< 70) groups. Through univariable and multivariable Poisson and logistic regression analyses, the relationships between the sleep disturbance domains and covariates, including sex, age group, genetic variant, motor skills, seizure frequency and patterns, medication use and side effects, constipation, and emotional behaviours, were examined. Caregivers also provided qualitative data on their children’s sleep abnormalities. Content analysis assessed caregivers’ responses to the prompt, “Is there anything about your child’s sleeping that you consider unusual or problematic?”. Individuals ≥18 years old had an adjusted mean DIMS scaled score 6.49 (95% CI -12.44,-0.55) points lower than those aged 3–5 years. Daily seizures were associated with lower DIMS (-6.65, 95% CI -11.52,-1.78) and higher SBD (7.09, 95% CI 2.39,11.79) scores. Those whose parents reported constipation had more than twice the odds of a high DIMS t score (2.39, 95% CI 1.24,4.62). The mean DOES-mod score was 6.92 (95% CI 0.40,13.44) points higher in those able to sit and walk than in those unable to sit and walk, and was higher in adolescents and adults. Occurrence of seizures during night-time sleep was associated with higher SWTD-mod scores (4.09, 95% CI -0.15,8.32). Caregivers reported insomnia (sleep initiation and maintenance), “night parties” (possibly reflecting disrupted circadian rhythms), and daytime somnolence affecting functioning as major concerns, with seizure timing and frequency, gastrointestinal symptoms, and medication use identified as contributing factors. Functional abilities and comorbidities influenced sleep. Reducing the impacts of constipation and side-effects of anti-seizure medications on sleep could improve sleep and enhance child and family wellbeing.