Introduction Tuberous sclerosis complex (TSC) is a rare multisystem genetic condition characterised by benign tumours; prevalent manifestations include epilepsy and neuropsychiatric disorders. This study examined the burden of TSC for primary caregivers and families, exploring the impact of characteristics such as seizures. Methods Primary caregivers of individuals with TSC in the United Kingdom participated in an online survey, comprising the Pediatric Quality of Life Inventory™ Family Impact Module, Hospital Anxiety and Depression Scale (HADS), and TSC-specific items. Responses were analysed using descriptive and regression analysis statistics (closed-ended) or qualitative content analysis (open-ended). Results Seventy-three participants partially completed and 59 fully completed the survey; 95% were female, and 90% were parents of an individual with TSC. A median (range) of 2 (1-11) household members were carers. Primary caregivers spent a mean (standard deviation [SD]) of 104.3 (51.7) hours caring in the previous week, reporting high mean (SD) HADS scores of 11.2 (4.8) (anxiety) and 7.9 (4.4) (depression) and considerable family burden. Increased seizure frequency increased hours spent caring by primary caregivers (p = 0.01) and was associated with a decreased mean (SD) family functioning score of 46.2 (23.0) and parent health-related quality of life (HRQL) score of 45.4 (20.3) (both p = 0.03). Multivariable models predicted intellectual disability increased hours spent caring by primary caregivers (p = 0.01-0.04), and neuropsychiatric comorbidities decreased family functioning (p = 0.02) and caregiver HRQL (p < 0.01). Conclusion These findings highlight the role of epileptic seizures and neuropsychiatric disorders in the considerable burden of TSC on primary caregivers and families.

Background Tuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders, resulting in a high burden of illness for individuals and a substantial impact on their caregivers. Due to the diversity and complexity of clinical manifestations, patients with TSC need aligned multidisciplinary healthcare services starting in childhood through to adulthood. However, patients and caregivers are sometimes dissatisfied with the care provided, for which one of the most common reasons is a lack of involvement in clinical decision-making. Shared decision-making, whereby clinicians make clinical management decisions together with patients and their caregivers, is advocated for in the management of epilepsy, but evidence of its benefit in managing TSC is currently lacking. In this cross-sectional, UK-based analysis we used an online survey to capture the experiences of primary caregivers for individuals with TSC, including the impact on work productivity, clinical shared decision-making, satisfaction with care, and the impact of the coronavirus disease 2019 (COVID-19) pandemic. Results In total, 73 eligible caregivers provided consent (analysis set), with 14 completing the survey partially and 59 completing the full survey. Many caregivers (72%) reported receiving recommendations about new treatments from their doctor and discussing the treatment together, with a high proportion (89%) preferring that treatment was initiated at a low dose. Most caregivers (69%) were satisfied or extremely satisfied with pediatric TSC healthcare services, but only 25% were satisfied or extremely satisfied with the transition to adult TSC healthcare services. Several (n = 30) caregivers specified the impact of caring on their work productivity and career in optional open-ended survey responses. Finally, 80% of caregivers indicated that the COVID-19 pandemic had a “large” or “very large” impact on their caring activities, negatively affecting the emotional wellbeing and behavior of individuals with TSC, and caregivers’ ability to work and arrange medical appointments. Conclusions Caregivers largely feel involved in treatment decisions, and the majority were satisfied with healthcare services for children with TSC. However, many highlighted the need for an improved transition from pediatric to adult healthcare services. The survey also showed that COVID-19 has considerably affected caregivers and individuals with TSC.