SynthesisOrphanet journal of rare diseases2020
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).
Synthesis in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
66 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- 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
- Dravet syndrome: A systematic literature review of the illness burden.Epilepsia open · 2023Pooled it
- The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.BMC medicine · 2022Pooled it
- Seizure-induced apnea causes sudden death independent of cortical spike wave discharge in mouse models of Tuberous Sclerosis Complex.Neurobiology of disease · 2026Article
- Dermatology patient-derived health utility of facial angiofibroma associated with tuberous sclerosis complex.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.Journal of neurology · 2026Article
- Article
- Neurodevelopmental and Behavioral Profiles in Children with Tuberous Sclerosis Complex: Exploratory Associations with Epilepsy Onset and Cortical Tuber Burden.Journal of clinical medicine · 2026Article
- Exploring global access to healthcare and utilisation for neurocutaneous syndromes: a scoping review protocol.BMJ open · 2026Article
- Molecular Diagnosis in Patients With Tuberous Sclerosis Complex: A Deep Sequencing Approach in Clinical Practice.Cureus · 2026Article
- Minor Physical Anomalies and Congenital Malformations Among Children with Psychotic Symptoms: An Exploratory Descriptive Study with Illustrative Clinical Cases.Brain sciences · 2026Article
- Multifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation-a case report.Journal of medical case reports · 2025Article
- An acute presentation of Wunderlich's syndrome with angiomyolipoma: a case report.Journal of medical case reports · 2025Article
- Retrospective Multicenter Chart Review Study of Adjunctive Cannabidiol for Seizures Associated with Lennox-Gastaut Syndrome, Dravet Syndrome and Tuberous Sclerosis Complex.Neurology and therapy · 2025Article
- Article
- Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).Orphanet journal of rare diseases · 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
- Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.Orphanet journal of rare diseases · 2025Article
- Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly the kidneys, brain, skin, eyes, heart, and lungs.
methodsWe performed a systematic analysis of the available literature on BOI in TSC according to the PRISMA guidelines. All studies irrespective of participant age that reported on individual and societal measures of disease burden (e.g. health care resource use, costs, quality of life) were included.
resultsWe identified 33 studies reporting BOI in TSC patients. Most studies (21) reported health care resource use, while 14 studies reported quality of life and 10 studies mentioned costs associated with TSC. Only eight research papers reported caregiver BOI. Substantial BOI occurs from most manifestations of the disorder, particularly from pharmacoresistant epilepsy, neuropsychiatric, renal and skin manifestations. While less frequent, pulmonary complications also lead to a high individual BOI. The range for the mean annual direct costs varied widely between 424 and 98,008 International Dollar purchasing power parities (PPP-$). Brain surgery, end-stage renal disease with dialysis, and pulmonary complications all incur particularly high costs. There is a dearth of information regarding indirect costs in TSC. Mortality overall is increased compared to general population; and most TSC related deaths occur as a result of complications from seizures as well as renal complications. Long term studies report mortality between 4.8 and 8.3% for a follow-up of 8 to 17.4 years.
conclusionsTSC patients and their caregivers have a high burden of illness, and TSC patients incur high costs in health care systems. At the same time, the provision of inadequate treatment that does not adhere to published guidelines is common and centralized TSC care is received by no more than half of individuals who need it, especially adults. Further studies focusing on the cost effectiveness and BOI outcomes of coordinated TSC care as well as of new treatment options such as mTOR inhibitors are necessary.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.