#fxs

What is Fragile X Syndrome?

Fragile X Syndrome (FXS) is a genetic disorder that affects how the brain develops. It can make learning, talking, and socializing harder for some people. It's the most common inherited cause of intellectual disability and happens because of a change (mutation) in the FMR1 gene on the X chromosome.

Why is it called Fragile X?

Under a microscope, the X chromosome in people with this condition looks "fragile" or broken, which is where the name comes from!

What does FXS do?

People with Fragile X might have: - Trouble learning (some have mild difficulties, others need more help) - Speech delays (talking later than other kids) - Anxiety & shyness (especially in social situations) - Sensory issues (loud sounds, bright lights, certain textures might feel overwhelming) - Hyperactivity or impulsiveness (kind of like ADHD) - Autism-like traits (repetitive behaviors, avoiding eye contact, social struggles)

What causes it?

A section of the FMR1 gene (which helps brain cells work properly) repeats too many times and turns off. This stops the body from making a protein called FMRP, which is important for brain development.

A parent can be a carrier (having a smaller mutation) and not show symptoms but still pass it on to their kids.

Is there a cure?

Nope, but there are ways to help! - Speech & behavioral therapy can improve communication. - Special education support helps with learning. - Medications can help with anxiety, hyperactivity, or mood regulation.

How do you know if someone has it?

Doctors can do a genetic test to check for the Fragile X mutation.