Resting State Functional MRI Finds Correct Surgical Target to Stop Seizures in Tuberous Sclerosis Complex

Abstract

Tuberous sclerosis complex (TSC) is a disorder that affects 1/5800 people. It causes tumor-like formations in the brain, called tubers, which can often number between one to several dozen. Ninety percent have uncontrolled seizures, despite medication, and about half have serious brain function disorders including intellectual disability (formerly known as mental retardation), autism spectrum disorder, and language disability. The only way to stop the seizures is brain surgery. However, it is hard to know which tuber needs removal among the many tubers, despite our best tests. A new test, called resting state functional MRI (RS), shows great promise. RS shows where all the brain networks are located. A brain network is an area of the brain that performs a function, such as telling the right hand to pick up an object, or for the person to understand and speak. RS is easy to get and safe, as it just takes a regular MRI machine, and the patient to lay still for 20 minutes. Often we give a little sedation, so they sleep during the test. In studies of children with many different causes of seizures, the initial results show that RS can find where the seizures are coming from. When the brain surgeon removed that part of the brain, the patients got better. In this study, we want to find out if RS can find where seizures are coming from in children with TSC, and if this helps them get better. This may increase the number of patients eligible for surgery by increasing the number of patients in whom a surgeon feels the correct tuber for removal is known. Currently, only a little more than half of patients who undergo brain surgery with TSC are cured. We anticipate at least 20% more will become seizure free using this test. Since RS finds the brain networks, and brain networks control what we can and cannot do, then RS also helps us know if the brain networks are not performing well or are abnormal. In children with TSC and intellectual disability, language disability, or autism spectrum disorder, we want to find out if RS can find the abnormality related to these serious problems. This may help doctors understand who may benefit from surgery in relation to these disorders outcomes, and which tubers may be contributing to the disability. Lastly, very early brain surgery in those only a few months old in TSC may prevent intellectual disability and autism spectrum disorder – if the surgeon knows which area to remove. Thus, in this way, RS may decrease the rate of these serious cognitive disorders in TSC.

Document Details

Document Type
DoD Grant Award
Publication Date
Mar 10, 2021
Source ID
W81XWH2010339

Entities

People

  • Varina Boerwinkle

Organizations

  • United States Army

Tags

Fields of Study

  • Medicine

Readers

  • Child and Adolescent Substance Abuse Science in Autism Spectrum Disorders.
  • Neuroscience
  • Oncology