ArticleFrontiers in neurology2020
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.
Article in Frontiers in neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Systematic review of indirect costs to families of children with developmental epileptic encephalopathies.Orphanet journal of rare diseases · 2025Pooled it
- Closing the Gap to Interventions for Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): Protocol for a Longitudinal Study of TAND Severity, Predictors, and Caregiver Well-Being (TANDem-2).JMIR research protocols · 2026Article
- GSK-J4 Suppresses Tumorigenesis by Targeting the PERK-c-Myc Pathway Through Endoplasmic Reticulum Stress Activation in Tuberous Sclerosis Complex.International journal of molecular sciences · 2026Article
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).Orphanet journal of rare diseases · 2025Article
- Neuropsychiatric disorders in Chinese pediatric tuberous sclerosis complex patients associated with drug-resistant epilepsy: A TAND checklist-based survey.Epilepsy & behavior reports · 2025Article
- Article
- Insights into Tuberous Sclerosis Complex : From Genes to Clinics.Journal of Korean Neurosurgical Society · 2025Article
- Tuberous Sclerosis Complex: A Case Series from a Romanian Genetics Center and a Review of the Literature.Journal of clinical medicine · 2025Article
- Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers.Kidney international reports · 2025Article
- Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs.Life (Basel, Switzerland) · 2025Review
- Enhancing the utility of tuberous sclerosis complex-associated neuropsychiatric disorders checklist in China.Pediatric investigation · 2024Article
- Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians.Children (Basel, Switzerland) · 2024Review
- 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
- Tuberous Sclerosis Complex as a Social Determinant of Health, Alongside Its Psychiatric Comorbidities: A Case Report.Cureus · 2024Article
- International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).Journal of neurodevelopmental disorders · 2023Article
- Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey.Orphanet journal of rare diseases · 2023Article
- The Burden of Caring for Individuals with Tuberous Sclerosis Complex (TSC) Who Experience Epileptic Seizures: A Descriptive UK Survey.PharmacoEconomics - open · 2023Article
- Tuberous Sclerosis Complex Patients' Needs and Difficulties-Results of TAND Questionnaire Analysis in Polish Adult Population.Journal of clinical medicine · 2022Article
- The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.Journal of neurodevelopmental disorders · 2022Article
Corrections and comments
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Authors and funding
30 authors at 20 institutions in 19 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Research on tuberous sclerosis complex (TSC) to date has focused mainly on the physical manifestations of the disease. In contrast, the psychosocial impact of TSC has received far less attention. The aim of this study was therefore to examine the impact of TSC on health, quality of life (QoL), and psychosocial well-being of individuals with TSC and their families. Questionnaires with disease-specific questions on burden of illness (BOI) and validated QoL questionnaires were used. After completion of additional informed consent, we included 143 individuals who participated in the TOSCA (TuberOus SClerosis registry to increase disease Awareness) study. Our results highlighted the substantial burden of TSC on the personal lives of individuals with TSC and their families. Nearly half of the patients experienced negative progress in their education or career due to TSC (42.1%), as well as many of their caregivers (17.6% employed; 58.8% unemployed). Most caregivers (76.5%) indicated that TSC affected family life, and social and working relationships. Further, well-coordinated care was lacking: a smooth transition from pediatric to adult care was mentioned by only 36.8% of adult patients, and financial, social, and psychological support in 21.1, 0, and 7.9%, respectively. In addition, the moderate rates of pain/discomfort (35%) and anxiety/depression (43.4%) reported across all ages and levels of disease demonstrate the high BOI and low QoL in this vulnerable population.
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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.