Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

Bar, Claire; Ghobeira, Rouba; Azzi, Rita; Ville, Dorothée; Riquet, Audrey; Touraine, Renaud; Chémaly, Nicole; Nabbout, Rima

doi:10.1016/j.yebeh.2019.04.027

Cited by 37 publications

(61 citation statements)

References 46 publications

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“…In TOSCA, significantly higher rates of overactivity and impulsivity were seen in children; in adults, higher rates of anxiety, depressed mood, mood swings, obsessions, psychosis and hallucinations were reported [50] The relationship between cortical tubers and autism spectrum disorders is mediated by general cognitive impairment [52]. [42,45,49,[53][54][55] A UK study [42] showed that the depression rate among patients with TSC was not higher than that in a matched general population comparator cohort. A United States (US) study reported that individuals with TSC had significantly higher depressive symptom scores as compared with the general population (11.6 vs. 5.1 on the Hamilton Depression Inventory-short form) [56].…”

Section: Neuropsychiatric Manifestations (Tsc-associated Neuropsychiamentioning

confidence: 99%

“…A study identified HADS scores suggesting anxiety in 56% of adult individuals with TSC [54]. A study on individuals with TSC in transition from pediatric treatment found frequent sadness and depression in 60% of patients and high anxiety in 40% [53]. Chung et al [40] demonstrated in a retrospective analysis that behavioral problems and mood disorders can be successfully treated medically in about two-thirds of afflicted individuals.…”

Section: Neuropsychiatric Manifestations (Tsc-associated Neuropsychiamentioning

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: Neuropsychiatric Manifestations (Tsc-associated Neuropsychiamentioning

confidence: 99%

Section: Neuropsychiatric Manifestations (Tsc-associated Neuropsychiamentioning

confidence: 99%

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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“…26 The aforementioned findings suggest that physicians may not be familiar with the neuropsychiatric manifestations of TSC and that there may be underdiagnosed or undertreated illness as highlighted by de Vries et al 27 This fact further emphasizes the unmet clinical needs with regard to identification and treatment of TAND in the TSC population. 28 Our finding is of significance, given that approximately 90% individuals with TSC have neuropsychiatric features such as depression, anxiety, autism spectrum disorder, sleep difficulties, and cognitive difficulties, and these conditions have a tremendous impact on functioning. Moreover, despite the frequency of TAND in patients with TSC, few (i.e., approximately 20%) may receive adequate treatment over the lifetime, creating a significant treatment gap.…”

Section: Discussionmentioning

confidence: 72%

“…29 Early recognition of TAND is important as it allows for earlier intervention and the implementation of treatments or programs to meet the needs of children and adults with TSC. 28 Moreover, there has been growing interest in the treatment of TAND, through such modalities as mTOR inhibitors despite limited clinical evidence to directly support their use. 12,[30][31][32][33] Education of all health care providers is therefore imperative to ensure that TAND symptoms are better recognized and treated.…”

Section: Discussionmentioning

confidence: 99%

A Review of Investigations for Patients With Tuberous Sclerosis Complex Who Were Referred to the Tuberous Sclerosis Clinic at The Hospital for Sick Children: Identifying Gaps in Surveillance

Alsowat

Zak

McCoy

et al. 2020

Pediatric Neurology

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“…al. discussed the need for optimizing transition programs for TSC patients from paediatrics to adult care (41). Hence, measures taken to centralize the OP service to TSC patients, such as training doctors in a multi-disciplinary team may optimize the healthcare resources provided to TSC patients.…”

Section: Discussionmentioning

confidence: 99%

Prevalence, mortality and healthcare economic burden of Tuberous Sclerosis in Hong Kong: a population-based retrospective cohort study (1995-2018)

Chu

Chiang

Chan

et al. 2020

Preprint

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Background We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with documented visits to our local public hospitals in 1995-2018 were identified. The public hospitals captured most if not all local TSC patients. Demographics such as age, sex, death, genetic profiles were retrieved from the central electronic database. Data including prevalence, age distribution and survival rate were analysed. Direct cost was calculated with reference to the drug use and number of visits to various public hospital facilities. Results We identified 284 surviving TSC patients (55.3% male) in Hong Kong. The age range was from 4.5 months to 89.9 years, with a median age of 27.2 years. Paediatrics (<18 years) to adult (≥18 years) ratio was 1:2.84. The overall prevalence of TSC patients was 3.87 in 100,000 (i.e. 1 in 25,833). Genetically, TSC1:TSC2 ratio is 1:2.7. Thirty seven patients died within the study period. The age of death ranged from 7.6 years to 77.8 years, with a median age of death at 36.6 years (IQR: 24.7-51.1 years). Most patients survived till adulthood. Survival rate at 20 and 50 years follow-up was 98.6% and 79.5% respectively. Two hundred and twenty nine TSC patients (71.3%) had neurological manifestations, sixteen patients (5.0%) had chronic kidney diseases and five patients (1.6%) had pulmonary lymphangioleiomyomatosis. Forty seven (16.5%) TSC patients were prescribed with mTOR inhibitors within the study period. Healthcare facility utilization was further analysed in the 2008-2018 cohort. In particular, the mean number of specialist out-patient clinic visits per patient-year was 9.23 per patient-year, which was 4.91 times more than that of local general population. Conclusions Prevalence of local TSC patients is within the range of that reported in the literature. Local TSC patients have fair long term survival, but they require disproportionally high healthcare cost when compared with the general population, particularly in terms of outpatient (OP) visits. Although effective disease-modifying agent (i.e. mTOR inhibitor) is available, it was not widely used yet in Hong Kong despite the fact that Government approved and supported its use recently. Further research on quality of life and setting up a comprehensive patient registry are necessary for more accurate assessment of cost and benefit.

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Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

Cited by 37 publications

References 46 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)

A Review of Investigations for Patients With Tuberous Sclerosis Complex Who Were Referred to the Tuberous Sclerosis Clinic at The Hospital for Sick Children: Identifying Gaps in Surveillance

Prevalence, mortality and healthcare economic burden of Tuberous Sclerosis in Hong Kong: a population-based retrospective cohort study (1995-2018)

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