What is Fragile X Syndrome?

Fragile X syndrome (FXS) is a rare genetic disorder caused by mutations in the FMR1 gene on the X chromosome. It’s inherited genetically from one or both parents, often unknowingly. While a child’s diagnosis of FXS may cause concern or distress, with early intervention, proper treatment, and continued care, children with FXS can live very healthy and fulfilling lives.

What is Fragile X Syndrome?

Changes in a gene called Fragile X messenger ribonucleoprotein 1 (FMR1) create Fragile X syndrome. It’s one of the most common inherited intellectual disabilities. FMR1 makes a protein called FMRP that is required for brain development, and its mutation disrupts the synthesis of this protein. The exact number of people with FXS is unknown, but studies estimate that approximately 1 in 7,000 males and about 1 in 11,000 females have this condition.

What are the symptoms of Fragile X Syndrome?

Fragile X syndrome affects both males and females; however, girls often have milder symptoms than boys. 

Common symptoms of Fragile X syndrome in respective genders include:

Males

• Distinct physical features: large ears, long face, flexible joints, low muscle tone, flat feet, high arched palate.
  
• Behavior problems: hand-biting or flapping, anxiety, increased aggression.

• Sensory processing issues: sensitivity to loud noises, crowds, foods, or fabrics.

• Developmental delays: autism spectrum disorder and ADHD.

• Cognitive delays:  learning disabilities and speech and language deficits.

Females

• Girls with FXS can share the same characteristics as boys, but girls often have fewer symptoms of the syndrome’s cognitive, behavioral, and physical features.
  
• Approximately one-third of females with FXS have very mild learning disabilities or none at all.
  
• A small percentage of females who have the full mutation of the FMR1 gene have no apparent signs of the condition. These females are identified only after another family member has been diagnosed with FXS.

How is Fragile X Syndrome inherited?

Everyone has the FMR1 gene on their X chromosome. Both males (XY) and females (XX) have at least one X chromosome, so both genders can pass on the mutated gene to their children. 

MXS is a complex genetic disorder–here’s a breakdown of how children inherit this condition from their biological parents:

• A father with the altered gene for FXS will pass it only to his daughters. Fathers are premutation carriers, meaning their daughters will not acquire a full gene mutation.  Even if the father himself has a full gene mutation, sperm can only carry the pre-mutated gene.  Scientists have yet to discover why fathers can only pass on the milder form of Fragile X to their daughters. 

• Females have two X chromosomes (XX), unlike males, who only have one X chromosome (XY). If a mother is a carrier of the mutated gene, there’s a 50% chance she can pass this altered gene to her sons or daughters. 

• If a mother has the mutated gene on one of her X chromosomes and has one normal X chromosome, and the father has no mutations, all the children have a 50-50 chance of inheriting the mutated FMR1 gene.

How is Fragile X Syndrome diagnosed?

Diagnosing Fragile X syndrome is accomplished by genetic testing of the person’s DNA. A blood test is given to identify the mutated FMR1 gene. This assessment can also determine other fragile X-associated disorders. Other family members are typically tested to determine which members may also have the Fragile X gene.

What treatments are available for Fragile X Syndrome?

There is no cure for FXS, but with proper therapies, interventions, and medications, symptoms can be managed to improve your child’s quality of life.

These treatments may include:

• Behavior modification therapy
• Physiotherapy
• Medications
• Cognitive behavioral therapy
• Antisense therapy (restores FMRP protein production)
• Special Education services

Are there associated conditions with Fragile X Syndrome?

Yes. There are two other disorders associated with FXS:

• Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

• Fragile X-Associated Primary Ovarian Insufficiency (FXPO)

Treatment for Developmental Disorders with Roman Empire Agency

If you have concerns about your child’s development, Roman Empire Agency offers comprehensive support and tailored treatment plans to help your child thrive. 

We aim to support your child’s ongoing development through a personalized approach, helping them achieve their full potential now and into adulthood. 

If you’d like to learn more about our services and how we can help you and your child, contact us today!