Fragile X Syndrome

Fragile X syndrome is a genetic syndrome that is the number one leading cause for genetic autism. Children with fragile X syndrome can have issues with expressing themselves. They can have language difficulties and sometimes difficulties in school. Since fragile x syndrome is a genetic syndrome, there is no cure. However, there have been great advances in the last 10 years including specific pathways and medications that can target and help kids with fragile x.

How is Fragile X Syndrome Diagnosed?

There is a simple blood test that can diagnose for Fragile X syndrome. Pediatricians who recognize the signs of fragile x. If your child is having language difficulties, is having issues with transitions, which means going from one place to another, or showing signs of autism, you can ask your pediatrician for a referral to a pediatric neurologist to get an evaluation for fragile X.

Treatment for Fragile X Syndrome in Children

Part of the role of neurologists who specialize in care for children with fragile X syndrome is to come up with a treatment plan that targets their specific challenges, and work with the family to help overcome them.