Tuberous Sclerosis Raises the Risk of Autism

Tuberous sclerosis (TSC) is a rare disorder. Up to half of people with TSC also fit the criteria for a diagnosis with autism spectrum disorder. It's important for parents and healthcare professionals to recognize each disorder because the treatment approaches are different—and a child who has both TSC and autism needs treatment for both.

Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain, kidneys, heart, eyes, lungs, and skin. Common symptoms include seizures, learning delays, behavior problems, and skin abnormalities. People with this condition are also at risk of kidney problems and heart problems and have an increased risk of kidney cancer.

Connection Between TSC and Autism

About 25 percent to 50 percent of all children diagnosed with TSC also have autism. And people who have both an autism spectrum disorder and a seizure disorder have a higher than normal prevalence of TSC.

While tumors in the brain are often associated with the neurological symptoms of TSC, there are also developmental abnormalities in the brain associated with TSC that contribute to the neuropsychological effects, including learning disabilities. These changes affect communication between different regions in the brain and could be associated with the link between autism and TSD.

Research looking at the links between TSC and behavioral and neuropsychiatric disorders can be complex due to the frequently overlapping symptoms.

Recognizing and Diagnosing TSC

In most cases, the first clue to recognizing TSC is the presence of seizures or delayed development. In other cases, the first sign may be white patches on the skin. To diagnose TSC, doctors use CT or MRI scans of the brain, as well as an ultrasound of the heart, liver, and kidneys.

It is possible to inherit TSC from a parent. Most cases, though, are due to spontaneous genetic mutations. That is, a child's genes develop the mutation before they are born—even though neither parent has either TSC or an associated gene.

When TSC is inherited, it usually comes from only one parent. If a parent has TSC, each child has a 50% chance of developing the disorder. A child who inherits TSC may not have the same symptoms as their parent, and they may have either a milder or a more severe form of the disorder.

A Word From Verywell

While neither TSC nor autism is curable, they both can be managed with medical and therapeutic interventions. The outcome is better for children who are diagnosed and treated while they are young.