Epilepsy in <scp>TSC</scp>: Certain etiology does not mean certain prognosis

Vignoli, Aglaia; Briola, Francesca La; Turner, Katherine; Scornavacca, Giulia Federica; Chiesa, Valentina; Zambrelli, Elena; Piazzini, A.; Savini, Miriam Nella; Alfano, Rosa Maria; Canevini, Maria Paola

doi:10.1111/epi.12430

Cited by 70 publications

(80 citation statements)

References 24 publications

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“…Type and severity of seizures, especially infantile spasms, along with early age of seizure onset also appear to be associated with increased likelihood of cognitive and behavioral difficulties particularly if seizures are not controlled [8–12]. Similar associations have been reported for higher risk for ASD in TSC [9, 13–15], and it has been suggested that epilepsy may be an independent predictor of intellectual ability in TSC [7, 10, 16].…”

Section: Introductionmentioning

confidence: 90%

Influence of seizures on early development in tuberous sclerosis complex

Capal

Bernardino-Cuesta

Horn

et al. 2017

Epilepsy & Behavior

148

141

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Objective Epilepsy is commonly seen in Tuberous Sclerosis Complex (TSC). The relationship between seizures and developmental outcomes has been reported, but few studies have examined this relationship in a prospective, longitudinal manner. The objective of the study was to evaluate the relationship between seizures and early development in TSC. Methods Analysis of 130 patients ages 0–36 months with TSC participating in the TSC Autism Center of Excellence Network, a large multicenter, prospective observational study evaluating biomarkers predictive of autism spectrum disorder (ASD), was performed. Infants were evaluated longitudinally with standardized evaluations, including cognitive, adaptive, and autism-specific measures. Seizure history was collected continuously throughout, including seizure type and frequency. Results Data were analyzed at 6, 12, 18, and 24 months of age. Patients without a history of seizures performed better on all developmental assessments at all time points compared to patients with a history of seizures and exhibited normal development at 24 months. Patients with a history of seizures not only performed worse, but developmental progress lagged the non-seizing group. All patients with a history of infantile spasms performed worse on all developmental assessments at 12, 18, and 24 months. Higher seizure frequency correlated with poorer outcomes on developmental testing at all time points, but particularly at 12 months and beyond. Patients with higher seizure frequency during infancy continued to perform worse developmentally through 24 months. A logistic model looking at the individual impact of infantile spasms, seizure frequency, and age of seizure onset as predictors of developmental delay revealed that age of seizure onset was the most important factor in determining developmental outcome. Conclusions Results of this study further define the relationship between seizures and developmental outcomes in young children with TSC. Early seizure onset in infants with TSC negatively impacts very early neurodevelopment, which persists through 24 months of age.

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Section: Introductionmentioning

confidence: 90%

Influence of seizures on early development in tuberous sclerosis complex

Capal

Bernardino-Cuesta

Horn

et al. 2017

Epilepsy & Behavior

148

141

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“…; Vignoli et al . ). The cortical lesions seen in TSC contribute to epileptogenesis, and it is hypothesised that inactivating mutations lead to increased mTOR kinase signalling and likely changes in parallel signalling pathways (Karbowniczek et al .…”

Section: Introductionmentioning

confidence: 97%

“…Epilepsy is seen in most patients with TSC, with published prevalence reported as 72.5% (Vignoli et al . ) and 84% (Kingswood et al . ).…”

Section: Introductionmentioning

confidence: 99%

‘We've made the best of it. But we do not have a normal life’: families' experiences of tuberous sclerosis complex and seizure management

McDonald

Goodwin

Roberts

et al. 2019

J intellect Disabil Res

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Background Tuberous sclerosis complex (TSC) is a complex multisystem genetic disorder. Approximately 84% of people with TSC have epilepsy. However, there is little literature available regarding families' experiences with TSC and seizure management. Therefore, the aim of the current study was to explore families' positive and negative experiences, and attitudes towards TSC, epilepsy and medical management of seizures. Methods Framework analysis informed an open exploration of families' experiences with TSC, epilepsy and medical management of seizures. Using structured interviews, 11 parents of people with TSC and 2 people with TSC were interviewed, providing the data set for transcription and thematic analysis. Results ‘TSC rules our life’ overarched three subordinate themes: ‘Our normal’, ‘Burnout’ and ‘Seizure management has given us our life back’. Families had to adapt to the normality of needing to constantly supervise their child even as they become an adult. They express a feeling of fear particularly of seizures, and this has impact throughout the family. There are frequent expressions of exhaustion and struggling to fight for access and support. There are some positives and cautious hope with the gaining of control from seizures as being able to predict or plan improves activity and participation. These interviews provided a rich insight into the lives of those with TSC and their families. Conclusion There are exciting developments with respect to scientific understanding of the pathophysiology of TSC, which opens opportunity for new treatments. Holistic family centred health care and practical support (e.g. opportunities for parental respite) is as important as medical intervention. As TSC is such a complex condition, there is a need for specialist clinics and TSC‐specific research.

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“…6 There are several therapeutic options available for the treatment of focal seizures and infantile spasms associated with TSC including antiepileptic drugs (AEDs), hormonal therapy, epilepsy surgery, ketogenic diet, and vagus nerve stimulation. 1,2,8,9 Most of these studies were retrospective in nature, reported a single-center cohort, and had relatively small sample size. 6,7 The natural history of epilepsy in TSC has been evaluated in only a handful of studies.…”

Section: Introductionmentioning

confidence: 99%

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Nabbout

Belousova

Benedik³

et al. 2018

Epilepsia Open

183

147

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Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice. Results Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median <1 year; range <1‐30 years) and at diagnosis of focal seizures was 2.7 years (median 1 year; range <1‐66 years). A total of 1469 patients (79.3%) were diagnosed with epilepsy <2 years. The rate of infantile spasms was higher in patients with a TSC2 mutation than in patients with a TSC1 mutation (47.3% vs 23%). ɣ‐aminobutyric acid (GABA)ergic drugs were the most common treatment modality for both infantile spasms (78.7%) and focal seizures (65.5%). Infantile spasms and focal seizures were controlled in 76.3% and 58.2% of patients, respectively. Control of seizures was associated with lower rates of intellectual disability in both groups. Significance This registry reports the largest international cohort of patients with TSC. Findings confirmed the typical onset pattern of infantile spasms and other focal seizures in the first 2 years of life, and the high rates of infantile spasms in patients with TSC2 mutation. Our results underscored the occurrence of focal seizures at all ages, including an onset that preceded emergence of infantile spasms. Seizure control was shown to be associated with lower rates of intellectual disability but did not preclude the presence of intellectual disability.

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Epilepsy in TSC: Certain etiology does not mean certain prognosis

Cited by 70 publications

References 24 publications

Influence of seizures on early development in tuberous sclerosis complex

Influence of seizures on early development in tuberous sclerosis complex

‘We've made the best of it. But we do not have a normal life’: families' experiences of tuberous sclerosis complex and seizure management

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

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