Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

Kaczorowska, Magdalena; Jurkiewicz, Elżbieta; Domańska-Pakieła, Dorota; Syczewska, Małgorzata; Łojszczyk, Barbara; Chmielewski, Dariusz; Kotulska, Katarzyna; Kuczyński, Dariusz; Kmieć, Tomasz; Dunin-Wąsowicz, Dorota; Kasprzyk-Obara, Jolanta; Jóźwiak, Sergiusz

doi:10.1111/j.1528-1167.2010.02892.x

Cited by 63 publications

(48 citation statements)

References 17 publications

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“…Twenty-three of these cases subsequently had genetic testing which identified a mutation, including 10 cases who did not have a confirmed clinical diagnosis when they had their first seizure, demonstrating the contribution genetic testing can make in this situation. Given evidence that seizures, particularly in young children, may contribute to cognitive impairment,18 26–31 this raises important issues about monitoring for seizures and the indications for starting anticonvulsant therapy. Prospective EEG monitoring in young infants with TS has shown that the EEG often becomes abnormal with multifocal epileptic activity prior to the onset of clinically apparent seizures and there is evidence suggesting that these changes can be reversed by treatment with vigabatrin,32 33 giving better control of epilepsy and improving the cognitive and behavioural outcome 34.…”

Section: Discussionmentioning

confidence: 99%

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Yates

MacLean

Higgins

et al. 2011

Archives of Disease in Childhood

121

114

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Section: Discussionmentioning

confidence: 99%

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Yates

MacLean

Higgins

et al. 2011

Archives of Disease in Childhood

121

114

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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]. At this time, it is unclear as to whether neurodevelopmental disorders are caused by the underlying brain abnormalities seen in TSC, subsequent development of epilepsy, or both [17].…”

Section: Introductionmentioning

confidence: 88%

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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“…Features of epilepsy 5–8 , neuropathology 9–12 , genetics 13,14 as well as the timing and type of mechanism-based medications 15–18 have been reported as risk factors for intellectual disability and/or autism in individuals with TSC. Many of these proposed risk factors are illustrated in these case reports.…”

Section: Discussionmentioning

confidence: 99%

“…Tuberous Sclerosis Complex (TSC) is one of the leading causes of syndromic autism 2,3 , and nearly half of the population is affected by intellectual disability 4 ; however, the predictors and causation are unknown. Features of epilepsy 5–8 , neuropathology 9–12 , genetics 13,14 as well as timing and type of mechanism-based medications 15–18 have been linked to developmental outcomes. However, none of these studies have reported details about the individuals’ infant presentation making it difficult to fully interpret the results.…”

Section: Introductionmentioning

confidence: 99%

Early Neurodevelopmental Screening in Tuberous Sclerosis Complex: A Potential Window of Opportunity

Gipson

Gerner

Srivastava

et al. 2014

Pediatric Neurology

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BACKGROUND Infants born with tuberous sclerosis complex (TSC), a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals’ early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with TSC and the lack of a gold standard for neurodevelopmental evaluation presents a significant challenge for clinicians and researchers. METHOD During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments and the associated response of 2 age-matched infants with TSC. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. RESULTS Infant 1 developed infantile spasms as confirmed by hypsarrhythmia at 4 months. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech/language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine and the ketogenic diet. Vigabatrin was initiated upon detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational and speech/language therapy. CONCLUSION Many risk factors have been associated with intellectual disability and/or autism in individuals with TSC; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long term cognitive and psychiatric outcomes.

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Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

Cited by 63 publications

References 17 publications

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Influence of seizures on early development in tuberous sclerosis complex

Early Neurodevelopmental Screening in Tuberous Sclerosis Complex: A Potential Window of Opportunity

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