ArticleOrphanet journal of rare diseases2021
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 3 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.Orphanet journal of rare diseases · 2025Pooled it
- Systematic review of indirect costs to families of children with developmental epileptic encephalopathies.Orphanet journal of rare diseases · 2025Pooled it
- The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers.Kidney international reports · 2025Article
- Caregiver burden associated with caring for individuals with tuberous sclerosis complex-associated seizures: A descriptive, non-interventional survey in Sweden.Epilepsy & behavior reports · 2025Article
- Quality of life and disease burden in tuberous sclerosis and comparison with the population with idiopathic autism spectrum disorder: an investigation conducted through questionnaires and clinical data collection in the pediatric population.Frontiers in psychiatry · 2025Article
- Epileptic seizures revealing tuberous sclerosis in a tropical environment: A study of 12 case series.eNeurologicalSci · 2024Article
- Kidney transplantation in patients with tuberous sclerosis complex.Pediatric transplantation · 2024Article
- A multicenter, matched case-control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany.Neurological research and practice · 2024Article
- Patients' and physicians' awareness of clinical symptoms and disease severity in tuberous sclerosis complex.Orphanet journal of rare diseases · 2024Article
- Methods used to account for caregivers' sex and gender within studies examining the financial burden of caregivers of children and adolescents : Results from a scoping review.ClinicoEconomics and outcomes research : CEOR · 2024Article
- Australian children living with rare diseases: health service use and barriers to accessing care.World journal of pediatrics : WJP · 2023Article
- The Burden of Caring for Individuals with Tuberous Sclerosis Complex (TSC) Who Experience Epileptic Seizures: A Descriptive UK Survey.PharmacoEconomics - open · 2023Article
- Epidemiology and disease burden of tuberous sclerosis complex in France: A population-based study based on national health insurance data.Epilepsia open · 2022Article
- Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.CNS drugs · 2021Article
- Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine.Therapeutic advances in neurological disorders · 2021Review
Corrections and comments
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Authors and funding
36 authors at 20 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associated with various organ manifestations in TSC patients.
methodsA validated, three-month, retrospective questionnaire was administered to assess the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket, and nursing care-level costs, completed by caregivers of patients with TSC throughout Germany.
resultsThe caregivers of 184 patients (mean age 9.8 ± 5.3 years, range 0.7-21.8 years) submitted questionnaires. The reported TSC disease manifestations included epilepsy (92%), skin disorders (86%), structural brain disorders (83%), heart and circulatory system disorders (67%), kidney and urinary tract disorders (53%), and psychiatric disorders (51%). Genetic variations in TSC2 were reported in 46% of patients, whereas 14% were reported in TSC1. Mean total direct health care costs were EUR 4949 [95% confidence interval (95% CI) EUR 4088-5863, median EUR 2062] per patient over three months. Medication costs represented the largest direct cost category (54% of total direct costs, mean EUR 2658), with mechanistic target of rapamycin (mTOR) inhibitors representing the largest share (47%, EUR 2309). The cost of anti-seizure drugs (ASDs) accounted for a mean of only EUR 260 (5%). Inpatient costs (21%, EUR 1027) and ancillary therapy costs (8%, EUR 407) were also important direct cost components. The mean nursing care-level costs were EUR 1163 (95% CI EUR 1027-1314, median EUR 1635) over three months. Total indirect costs totaled a mean of EUR 2813 (95% CI EUR 2221-3394, median EUR 215) for mothers and EUR 372 (95% CI EUR 193-586, median EUR 0) for fathers. Multiple regression analyses revealed polytherapy with two or more ASDs and the use of mTOR inhibitors as independent cost-driving factors of total direct costs. Disability and psychiatric disease were independent cost-driving factors for total indirect costs as well as for nursing care-level costs.
conclusionsThis study revealed substantial direct (including medication), nursing care-level, and indirect costs associated with TSC over three months, highlighting the spectrum of organ manifestations and their treatment needs in the German healthcare setting.
trial registrationDRKS, DRKS00016045. Registered 01 March 2019, http://www.drks.de/DRKS00016045.
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