Developmental outcomes in six children with early diagnosis of TSC

Seizures in TSC (Tuberous Sclerosis Complex) commonly develop in the first year of life and they are often preceded by changes being evident on electroencephalogram (EEG).  The onset of such seizures is particularly significant as it is thought that they influence developmental development. Although early diagnosis of TSC offers a tremendous opportunity to monitor affected patients before the onset of seizures, studies of TSC in infants before seizure onset are still scarce.

About this study

This study followed six infants in Italy diagnosed with TSC at or within six months of birth who underwent serial video-EEG recordings every four to eight weeks during the first two years of life.  Vigabatrin was prescribed as needed. During the study, psychomotor development, cognitive functioning and behavioral problems were assessed and genetic testing was completed.

What did the study find?

The study found that EEG changes appeared at a mean age of four months.  Four of the six infants developed seizures. Of the four children who developed seizures, two had good seizure control and had normal development, and two had psychomotor delays.  The two children who did not develop seizures had normal development pathways according to the assessments made.

All six of the TSC children in the study had multiple cortical tubers and subependymal nodules (SENs).  Five of the six children had a variant in the TSC2 gene. The study suggests that a mutation in a specific region of the TSC2 gene is associated with an increased risk for more severe epilepsy and developmental delay.  However, this is a study of just six children and more research is needed to confirm this finding.  It does however build on earlier studies that suggest that better seizure control can lead to better neurodevelopment in children with TSC.

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Savini, M. N., Mingarelli, A., Peron, A., La Briola, F., Cervi, F., Alfano, R. M., Canevini, M. P., & Vignoli, A. (2020). Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background. Italian journal of pediatrics, 46(1), 36.

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This information is intended to provide some insights into recent TSC-related research.  It is not intended to, and it should not, constitute medical or other advice.  Readers are warned not to take any action without first seeking medical advice.