Abstract Introduction Alagille syndrome (ALGS) is a rare multisystem genetic disorder characterized by cholestatic liver disease, severe pruritus, and various systemic abnormalities. Sleep disturbances are a significant aspect of the disease burden. Methods This study investigated sleep habits and disturbances in children with ALGS and their caregivers. The Children’s Sleep Habits Questionnaire (CSHQ) and the Sleep Disturbance Scale for Children (SDSC) were administered to 13 children with ALGS and compared with age- and sex-matched controls (n=26), while the Pittsburgh Sleep Quality Index (PSQI) was applied to assess caregivers’ sleep quality. Results A substantial proportion of children with ALGS have undergone surgical procedures (76.9%), of whom 30% required liver transplantation. In addition, 92.3% of patients receive pharmacological treatment, including immunosuppressive agents, cholestasis management, gastrointestinal drugs, cardiovascular/metabolic medications, vitamin supplements, or hormone therapy. Furthermore, 53.8% required antibiotic therapy more than once per year, and 15.5% received this treatment more than 3 times annually. A considerable number of children with ALGS exhibited functional limitations, with 76.9% reporting difficulty performing basic physical activities, such as running, jumping, or climbing stairs. Neurodivergences were observed in 23.1% of ALGS children. Children with ALGS showed substantial medical, functional, and sleep-related burdens. Total scores in the ALGS group on both questionnaires indicated broad sleep dysfunction, which was not influenced by transplantation status, medication type, or neurodivergence. Compared with controls, ALGS children demonstrated significantly higher CSHQ scores for sleep duration, night wakings, and parasomnias, as well as elevated SDSC scores for disorders of initiating and maintaining sleep and sleep–wake transition disorders. Correlation analyses revealed that several child sleep disturbances, including night wakings, daytime sleepiness, sleep-related anxiety, and disordered breathing, were associated with poorer caregiver sleep, underscoring interconnected sleep disruption within families. Conclusion This study shows that children with Alagille syndrome experience marked and multifactorial sleep disturbances that extend beyond cholestatic pruritus. Caregivers also demonstrated impaired sleep quality, highlighting the bidirectional impact of ALGS on family well-being. These findings underscore the need for integrated management strategies. Future work should incorporate objective sleep measures, longitudinal assessment of pruritus and treatment responses to develop ALGS-specific sleep interventions. Support (if any) AFIP, FAPESP, CNPq.
Mosini et al. (Fri,) studied this question.