Fragile X Syndrome

Understanding Fragile X Syndrome: Signs, Support & Hope

Fragile X Syndrome (FXS) is a genetic condition that impacts intellectual, behavioral, and physical development. It’s the most common inherited cause of intellectual disability and a leading known genetic cause of autism spectrum disorder.

What Is Fragile X Syndrome?

FXS is caused by a mutation in the FMR1 gene located on the X chromosome. This gene usually produces a protein necessary for normal brain development. In people with Fragile X, the gene becomes "silenced," leading to a deficiency in this important protein. Since it's an X-linked disorder, males typically show more significant symptoms.

Common Signs & Symptoms

• Developmental delays, especially in speech and language

• Intellectual disability

• Anxiety and social withdrawal

• Attention deficits and hyperactivity

• Sensory sensitivities (to noise, touch, etc.)

• Physical traits such as long face, large ears, or flexible joints

  
  

Diagnosis

FXS is diagnosed through a simple blood test that identifies changes in the FMR1 gene. Testing is often recommended when developmental delays or intellectual disabilities are observed, especially if there’s a family history.

Support & Treatment

• Speech and language therapy

• Occupational therapy for motor and sensory challenges

• Behavioral therapy to manage anxiety or aggression

• Educational supports including IEPs

• Medications for symptoms like anxiety, ADHD, or mood instability

  
  

What Parents Should Know

While Fragile X can be challenging, early support makes a world of difference. With access to tailored education plans, therapies, and community support, children with Fragile X can learn, grow, and thrive.