Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey

Tritton, Theo; Bennett, Bryan; Brohan, Elaine; Grant, Laura; Cooper, Alison; Fladrowski, Carla; Evanochko, Cathy; Neary, Maureen P.; Vieira, J.; Buffa, V; Kingswood, Chris

doi:10.1016/j.yebeh.2018.11.021

Cited by 17 publications

(24 citation statements)

References 23 publications

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“…In the French study, a third of patients had a stable income, but in 65% salary was below the national minimum wage [53]. In a multinational study, only 17.7% reported working at least part-time (sector not reported) [122].…”

Section: Individual and Caregiver Burden Of Illness And Quality Of Lifementioning

confidence: 96%

“…The measures of DALY and QALY were only used by one study that calculated projected costs of different treatment strategies for epilepsy in TSC [109]. Fourteen studies reported on quality of life [53,56,101,103,105,106,108,115,118,119,[121][122][123]125]. Nine studies (also) reported BOI for caregivers [56,102,105,106,108,115,117,119,125] (five studies reported analyses of the same population or subgroups of the same).…”

Section: Burden Of Illness and Resource Usementioning

confidence: 99%

“…Nevertheless, quality of life is lower in those with TSC and epilepsy than in those with TSC with only renal AML, primarily attributable to reduced cognitive functioning [123]. Quality of life and daily functioning worsens with increasing seizure frequency or severity [122], and pharmacoresistant epilepsy significantly reduces QoL [121]. Older age and reduced daily functioning also negatively affect quality of life (as measured by the Health Utility Index version 3 [HUI-3] questionnaire) [123].…”

Section: Individual and Caregiver Burden Of Illness And Quality Of Lifementioning

confidence: 99%

“…Quality of life was significantly worse for those with epilepsy than with only renal AML in one study [121]. Quality of life is severely affected by lower cognitive functioning and pharmacoresistant epilepsy [121][122][123]. Everolimus has recently been approved as a specific disease-modifying drug in TSC and first results are encouraging regarding the reduction of BOI in some indications [103].…”

Section: Individual and Caregiver Quality Of Lifementioning

confidence: 99%

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A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Zöllner

Franz

Hertzberg

et al. 2020

Orphanet J Rare Dis

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Objective: This 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. Methods: We 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. Results: We 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. Conclusions: TSC 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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Section: Individual and Caregiver Burden Of Illness And Quality Of Lifementioning

confidence: 96%

Section: Burden Of Illness and Resource Usementioning

confidence: 99%

Section: Individual and Caregiver Burden Of Illness And Quality Of Lifementioning

confidence: 99%

Section: Individual and Caregiver Quality Of Lifementioning

confidence: 99%

See 2 more Smart Citations

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Zöllner

Franz

Hertzberg

et al. 2020

Orphanet J Rare Dis

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“…A web-based United Kingdom (UK) survey of individuals with TSC and their caregivers showed significantly lower health state utility values (HSUVs) compared with the general population reference value for the UK value set of the three-level version of the EuroQol-5D (EQ-5D-3L). This indicates substantial impairment in individuals with TSC ( 18 ). Zöllner et al performed a systematic review on the burden of illness (BOI) in TSC and included 33 articles published up to October 2019, only 14 of which addressed QoL ( 19 ).…”

Section: Introductionmentioning

confidence: 98%

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

et al. 2020

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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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Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex

et al. 2019

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ObjectiveTo estimate health‐related quality of life (HRQoL) in patients with tuberous sclerosis complex (TSC) and associated manifestations and to identify potential factors associated with HRQoL in this population of patients.MethodsWe performed a retrospective chart review of adults with TSC who attended the outpatient clinic of the University Medical Center Utrecht in the Netherlands from 1990 to 2015 (N = 363; on average 33.6 years of follow‐up). HRQoL data were assessed in 2012 using the Health Utility Index version 3 (HUI‐3) questionnaire completed by patients or caregivers (N = 214 with HUI score and ≥1 TSC manifestation, including renal angiomyolipomas [rAMLs], subependymal giant cell astrocytoma [SEGA], or epilepsy).ResultsOf 214 patients in the study sample, 171 had TSC‐associated epilepsy (with or without rAML/SEGA), 37 had TSC and rAML (without epilepsy or SEGA), and 6 had other combinations of manifestations. The median HUI score for the 214 patients with ≥1 TSC manifestation was 0.51 (−0.371 to 1 scale, 1 = perfect health, 0 = death, <0 = worse than death). Among all components used to build the overall HUI score, the cognition component had the lowest score (mean = 0.47; 0‐1 scale). Patients with TSC‐epilepsy had significantly lower overall HUI than patients with TSC and rAML only (median HUI = 0.31 vs 0.95, P < .05), especially those who were in refractory state for prolonged periods of time (median HUI = −0.11 among patients with seizures during the entire duration of their follow‐up time). In multivariate analyses, severe impairment of daily functioning was the strongest predictor of HRQoL decrement (adjusted HUI difference between patients with severe vs. no impairment = −0.55, P < .05).SignificanceThis study showed that TSC‐related epilepsy is associated with lower HUI, especially for patients who have refractory seizures for prolonged periods of time. Early and effective interventions to control or reduce seizures and preserve patients’ cognitive functions may help to improve patients’ quality of life.

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Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey

Cited by 17 publications

References 23 publications

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex

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