Intellectual Disability

You’ll find helpful information below for specific disorders categorized generally under Intellectual Disability.

Fragile X Syndrome

Fragile X Syndrome's Link to Autism, Explained

The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability.

Fragile X syndrome is a leading genetic cause of autism. About one in three people with the syndrome also have autism. But even those who do not have autism often share certain autistic traits, such as avoidance of eye contact and difficulties in social situations. Mutations in the gene FMR1, which cause fragile X syndrome, account for up to 5 percent of autism cases. For these reasons, research on fragile X can provide insights into the biology of autism and its treatment.

Here is what scientists know about the mechanisms that underlie fragile X and some research angles they are pursuing. Fragile X syndrome is the most common cause of intellectual disability. It affects roughly 1 in 4,000 men and about half as many women. People with the syndrome also tend to have unusual physical features, such as a long face, large ears, and flat feet. Some men have large testes, and some people with the condition have seizures.

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New TSRI Study Shows Early Brain Changes in Fragile X Syndrome

The SCRIPS Research Institute reports that “A new study led by scientists at The Scripps Research Institute (TSRI) is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder.

“We’re the first to see that these changes happen very early in brain development,” said TSRI Professor Jeanne Loring, who led the study, published this week in the journal Brain. “This may be the only way we’ll be able to identify possible drug treatments to minimize the effects of the disorder.”

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