Epilepsy is very common in tuberous sclerosis complex and occurs in 80 to 90% of affected individuals during their lifetime. Onset usually occurs during childhood, and up to one third of children with tuberous sclerosis complex will develop infantile spasms. Although not completely understood, the incidence of epilepsy is thought to relate to the neuropathologic features of the disorder, including cortical tubers and other dysgenetic features. Individuals with tuberous sclerosis complex frequently have epileptiform features to their electroencephalograms. Treatment of epilepsy in tuberous sclerosis complex is similar to epilepsy resulting from other causes and includes anticonvulsant medications, the vagus nerve stimulator, and the ketogenic diet. Vigabatrin has been shown to be particularly effective in treating infantile spasms in the setting of tuberous sclerosis complex. Epilepsy surgery has a very important role in the management of children and adults with pharmacoresistant epilepsy in tuberous sclerosis complex.

Managing epilepsy in tuberous sclerosis complex.

Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients.

Background: The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life. Aims: To examine the relative contributions to final intelligence (IQ) made by both cerebral tubers and infantile spasms. Methods: As part of an epidemiological study of tuberous sclerosis in the south of England, patients were recruited who were able to undergo magnetic resonance imaging (MRI) without the need for an anaesthetic. Epilepsy history was determined by interview and review of clinical records. IQ was assessed using either Wechsler intelligence scales or Raven’s matrices. Results: A total of 41 patients consented to have an MRI scan. IQ scores were normally distributed about a mean of 91. Twenty six patients had a positive history of epilepsy, and 11 had suffered from infantile spasms. There was a significant relation between the number of tubers and IQ. Infantile spasm status partly confounded the relation between tubers and IQ, but did not render the relation statistically insignificant. The relation between infantile spasms and learning difficulty remained strong even when controlling for the number of tubers.

https://adc.bmj.com/content/archdischild/89/6/530.full.pdf

The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

Neuropsychiatric aspects of tuberous sclerosis.

Researchers have interpreted the behaviours of individuals with acquired apraxia of speech (AOS) as impairment of linguistic phonological processing, motor control, or both. Acoustic, kinematic, and perceptual studies of speech in more recent years have led to significant advances in our understanding of the disorder and wide acceptance that it affects phonetic - motoric planning of speech. However, newly developed methods for studying nonspeech motor control are providing new insights, indicating that the motor control impairment of AOS extends beyond speech and is manifest in nonspeech movements of the oral structures. We present the most recent developments in theory and methods to examine and define the nature of AOS. Theories of the disorder are then related to existing treatment approaches and the efficacy of these approaches is examined. Directions for development of new treatments are posited. It is proposed that treatment programmes driven by a principled account of how the motor system learns to...

https://www.ledonline.it/NeuropsychologicalTrends/allegati/NeuropsychologicalTrends_4_Ballard.pdf

Understanding the nature of apraxia of speech: Theory, analysis, and treatment

Facilitating communication skills in adult apraxics: Application of blissymbols in a group setting

This case study presents the history of a child diagnosed with severe tuberous sclerosis (TS) with an original prognosis of severe to profound mental retardation. Infantile spasms and seizures were eventually controlled, and with educational and therapeutic intervention, this child progressed until she was functioning within normal limits by age 4. This paper presents the position that early diagnosis, early seizure control, and early multidisciplinary intervention are crucial in reducing the poor prognosis in such cases.

John M. Samples

Papers

Facilitating communication skills in adult apraxics: Application of blissymbols in a group setting

Tuberous sclerosis: Case study of early seizure control and subsequent normal development

Language gains in global aphasia over a three-year period: a case study.