Tuberous Sclerosis (TSC) in children

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Boston Children’s Sahin and Cincinnati Children’s Krueger receive grant for tuberous sclerosis complex study

We’re pleased to announce that Boston Children’s Hospital neurologist Mustafa Sahin, MD, PhD, and Darcy Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, have received part of a $100 million grant from the National Institutes of Health as part of the Autism Centers of Excellence. The grant supports their research on tuberous sclerosis complex (TSC). This rare genetic disease causes children to develop benign tumors in their brain and other vital organs and increases their risk of developing autism. Currently, there is no cure for TSC, although there is treatment for the symptoms. Through this project, a consortium of TSC clinics at five pediatric hospitals will recruit infants diagnosed with TSC to track brain development and gain insights into how autism develops.

Overview

Our bodies are stocked with sophisticated controls that keep our cells working in harmony with one other, so that no cells grow to overstep their bounds. When one of these central systems isn’t working as it usually does, problems can occur in many different parts of the body.

That’s what happens in tuberous sclerosis complex (TSC; also called tuberous sclerosis or TS): A single change in your child’s DNA can allow cells to grow in an abnormal way, which can produce a variety of symptoms. These may include:

  • benign tumors and other abnormal tissue in organs including the brain, skin, heart, eyes, kidneys and lungs
  • epilepsy
  • intellectual disabilities and behavioral disorders, including autism spectrum disorders

Some children with TSC face serious problems, while for others, the disease is very mild. It’s important to know that even though the list of possible complications is long, every child with TSC doesn’t experience all of them.

Here’s some basic information about tuberous sclerosis complex:

  • TSC can be caused by a DNA change (mutation) in either of two genes. In about 80 percent of children who have TSC, genetic testing can detect a TSC - causing mutation.
  • Most children with TSC are the first people in their families to have TSC, because their disease is caused by a new mutation.
  • About one in 6,000 children are born with TSC. Symptoms usually appear before a baby is 6 months old.
  • TSC affects all ethnic groups, and girls and boys have an equal chance of having the disease.
  • There’s not a cure for TSC, but complications often can be managed well if they’re caught and treated early.
  • Most children under an experienced physician’s care can expect to grow up to live active and productive lives with a normal life expectancy.

In the last several years, researchers have made major discoveries about the causes of TSC, and these scientific findings are leading to promising new treatments.

How Children’s Hospital Boston approaches tuberous sclerosis complex

At Children’s, we formed the Multi-Disciplinary Tuberous Sclerosis Program with the belief that children with TSC benefit from care that is coordinated and specially tailored to their needs.

  • Our team brings together pediatric specialists from Epilepsy, Neurosurgery, Psychiatry, Psychology, Cardiology, Nephrology, Ophthalmology, Dermatology and Genetics. Each member of our team has special expertise in treating children with tuberous sclerosis.
  • Your child can see all of his specialists at the same location, and we work closely with one another to stay on the lookout for any complications he may have and to manage them effectively.
  • A nurse coordinator, licensed genetic counselor and educational consultant compassionately support our patients and their families.

In addition to providing expert care today, we’re searching for ways to improve the lives of children with TSC tomorrow by conducting research to better understand the disease and find new treatments. We’re conducting clinical trials of new drugs, studying the complications that children with TSC can experience and looking for DNA abnormalities that may contribute to the disease.

Tuberous sclerosis complex: Reviewed by Mustafa Sahin, MD, PhD

© Children’s Hospital Boston, 2011

 

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Boston Children’s received top marks in many different specialties from U.S. News & World Report in their rankings of pediatric hospitals. Get all the details on the U.S. News website.

 

Targeting developmental delays
Our team in the Multi-Disciplinary Tuberous Sclerosis Program is conducting groundbreaking clinical trials of a medication for TSC. Read more in Can drugs improve cognitive deficits in developmental disorders?.
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