The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex

2019 ◽  
Vol 34 (12) ◽  
pp. 770-777 ◽  
Author(s):  
Anne-Elise C. de Groen ◽  
Jeffrey Bolton ◽  
Ann Marie Bergin ◽  
Mustafa Sahin ◽  
Jurriaan M. Peters

Background:Subclinical seizures are electrographic seizures that present without subjective or objective clinical symptoms. In tuberous sclerosis complex, it is not known whether subclinical seizures occur alone, forewarn, or coexist with clinical seizures. To address this knowledge gap, we studied the prevalence and evolution of subclinical seizures in tuberous sclerosis complex.Methods:We retrospectively reviewed electroencephalography (EEG) data from our tuberous sclerosis complex clinic with subclinical seizures and clinical seizures in a blinded fashion. Based on EEG location and ictal pattern, subclinical seizures were classified as having a clinical counterpart from the same epileptogenic region (match) or not (no match).Results:Of 208 children with tuberous sclerosis complex, 138 had epilepsy and available EEG data. Subclinical seizures were detected in 26 of 138 (19%) children. Twenty-four children had both subclinical seizures and clinical seizures captured on EEG. In 13 of 24, subclinical seizures were detected as a novel, not previously recorded seizure type. In these children, subclinical seizures preceded matching clinical seizures in 4 (31%) within a median time of 4.5 months (range 2-14), whereas 9 (69%) never had any matching clinical seizure. In 11 of 24 children, subclinical seizures were not novel and could be matched to a previously recorded clinical seizure. Matching seizure types were focal (n = 10, 67%), tonic (n = 2), epileptic spasms (n = 2), and status epilepticus (n = 1).Conclusions:Subclinical seizures occur in one-fifth of children with tuberous sclerosis complex and epilepsy, and match with clinical seizures in a small majority. In a third of patients presenting with a novel subclinical seizure, matching clinical seizures follow.

2021 ◽  
Author(s):  
Fiona McEwen ◽  
Charlotte Tye ◽  
Holan Liang ◽  
Emma Woodhouse ◽  
Lisa Underwood ◽  
...  

Tuberous Sclerosis Complex (TSC) is a single gene disorder – caused by mutation in the TSC1 or TSC2 gene – that carries a high risk of autism spectrum disorder (ASD). Various neurological complications increase the risk of ASD but the way risk factors operate together is unclear. We aimed to explore risk pathways to ASD by modelling the interplay between genetic mutation (TSC1/TSC2), cortical tuber count, seizure type and severity. The Tuberous Sclerosis 2000 Study is a UK population-based, prospective study of the natural history of TSC. We recruited newly diagnosed children (N=125, 49.6% male, median age=2.7 years [range 4 weeks – 18 years]) and collected data on mutation, cortical tuber count (cranial MRI/CT), seizure history, and IQ. ASD and IQ assessments were carried out at 10-year follow up (N=86, 45.0% male, median age=12.5 years [range 7.8 – 26.9 years]). Assessment for ASD included the Autism Diagnostic Interview–Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-2). Structural equation modelling using full information maximum likelihood estimation was used to explore pathways that mediate between mutation and ASD. Risk of ASD was high: 39.5% met research criteria for ASD and a further 41.9% showed autistic traits. Structural equation modelling resulted in two indirect pathways, with cortical tuber count and occurrence/severity of epileptic spasms in infancy mediating between mutation and ASD (mutation→tubers→spasms→ASD, B=2.08, 95% CI 0.15–8.02; mutation→spasms→ASD, B=2.98, 95% CI 0.04–8.89). Concurrent seizures (B=3.08, 95% CI 0.42–6.18) and IQ (B=-117.10, 95% CI -183.57–-59.16) were also associated with ASD symptoms. There was significantly elevated risk of ASD and subclinical autistic traits. Tuber count and severity of epileptic spasms predicted ASD severity, suggesting that seizures in infancy may push genetically vulnerable individuals over the threshold for an ASD diagnosis. Prevention/control of seizures in infancy may decrease severity of ASD symptoms. However, ASD was occasionally reported in the absence of overt seizures in infancy, so their causal role requires further investigation.


2018 ◽  
Vol 3 (2) ◽  
pp. 276-280 ◽  
Author(s):  
Charlotte Tye ◽  
Laura E. Thomas ◽  
Julian R. Sampson ◽  
Julia Lewis ◽  
Finbar O'Callaghan ◽  
...  

Medicine ◽  
2019 ◽  
Vol 98 (19) ◽  
pp. e15545 ◽  
Author(s):  
Xuncan Liu ◽  
Yanfeng Zhang ◽  
Yunpeng Hao ◽  
Yinbo Chen ◽  
Chen Chen

2013 ◽  
Vol 106 (1-2) ◽  
pp. 200-210 ◽  
Author(s):  
David T. Hsieh ◽  
Melanie M. Jennesson ◽  
Elizabeth A. Thiele

2018 ◽  
Vol 33 (8) ◽  
pp. 519-524 ◽  
Author(s):  
Emma A. van der Poest Clement ◽  
Mustafa Sahin ◽  
Jurriaan M. Peters

Vigabatrin is recommended as first-line treatment for infantile spasms in tuberous sclerosis complex (TSC), but other indications in children with tuberous sclerosis complex are less known. We retrospectively reviewed 201 children with tuberous sclerosis complex, and identified 21 children older than 1 year started on vigabatrin for any indication and with sufficient follow-up data. The indication for vigabatrin was epileptic spasms (n = 13), tonic seizures (n = 5), both (n = 2), and status epilepticus (n = 1). Mean age of treatment onset was 4.0 years (range 1.1-18.3). All but 1 patient had a reduction in seizures. Ten patients became seizure free and 4 had an improvement of >90%. In 9 patients, vigabatrin was tapered successfully after 8 to 33 months. Side effects reported included rash (n = 1) and behavioral decline (n = 1). No retinal toxicity was detected in 14 of 21 patients with adequate ophthalmologic surveillance data. In conclusion, vigabatrin may be an effective treatment for epileptic spasms and tonic seizures beyond the infantile age.


2017 ◽  
Vol Volume 13 ◽  
pp. 779-785 ◽  
Author(s):  
Hatem Shehata ◽  
Hadeer AbdelGhaffar ◽  
Mohammed Nasreldin ◽  
Alaa Elmazny ◽  
Ahmed Abdelalim ◽  
...  

2020 ◽  
Vol 12 (2) ◽  
pp. 153-159
Author(s):  
Go Taniguchi ◽  
Katsura Masaki ◽  
Shinsuke Kondo ◽  
Masato Yumoto ◽  
Kiyoto Kasai

Nonconvulsive status epilepticus (NCSE) might be underdiagnosed in cases where clinical symptoms are ambiguous. If a patient exhibits ictal psychiatric symptoms such as NCSE presentation and is misdiagnosed as having a psychiatric disorder, the patient may be treated in psychiatry settings, where continuous electroencephalography (cEEG), the gold standard for NCSE diagnosis, is typically not used. Herein, we report our experience with a patient having NCSE who exhibited psychiatric symptoms and remained misdiagnosed for many years. We also included a brief review of the relevant literature. Our experience with this patient presents two clinically significant points: (1) clinicians should consider NCSE in the differential diagnosis of interictal psychosis when patients with epilepsy, in whom the seizure type is unknown, repeatedly present transient psychiatric symptoms, and (2) urgent EEG with hyperventilation activation during acute periods may help diagnose patients with suspected NCSE.


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