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About Fragile X Awareness Month

United States
EVENT NAME:
Fragile X Awareness Month
EVENT CATEGORIES:
Health , Children
Education , Lifestyle
Family & Friends , United States
Dates Active:
Begins: Jul 01, 2024
Ends: Jul 31, 2024
INFORMATION URL:
EVENT ADDRESS:

DESCRIPTION:

ABOUT FRAGILE X AWARENESS MONTH


Fragile X Syndrome (FXS) is a genetic disorder that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. It is the most common inherited cause of intellectual disability and autism.


Causes of Fragile X Syndrome


Fragile X Syndrome begins with a mutation in the FMR1 gene located on the X chromosome. This gene produces a protein called FMRP, essential for normal neural development. In individuals with FXS, a section of the FMR1 gene called the CGG triplet repeat is expanded.

Symptoms of Fragile X Syndrome


The symptoms of Fragile X Syndrome can vary widely among individuals, but common signs include:



Intellectual and Developmental Delays



  • Delayed speech and language development

  • Learning disabilities and cognitive impairments 

  • Intellectual disability

  • Behavioral and Emotional Symptoms: 

  • Hyperactivity and impulsivity

  • Anxiety and mood swings 

  • Autism spectrum disorder features, such as social avoidance and repetitive behaviors

  • Attention deficits and difficulties in focusing


Physical Characteristics:


  • Long face and large ears
  • Flat feet
  • Hyperextensible joints, especially fingers
  • Macroorchidism (enlarged testicles) in males after puberty

Sensory Sensitivities:  


Sensitivity to light, sounds, textures, and other sensory inputs

Prevalence of Fragile X Syndrome


Fragile X Syndrome affects both males and females, though males are typically more severely affected due to having only one X chromosome.


In Males: Approximately 1 in 4,000 to 1 in 7,000.

In Females: Approximately 1 in 8,000 to 1 in 11,000.


The variability in these estimates is due to differences in study methodologies and population sampling.


Summary


Fragile X Syndrome is a significant genetic disorder caused by a mutation in the FMR1 gene. It leads to a range of cognitive, behavioral, and physical symptoms. It is relatively rare, affecting a small percentage of the population, with males being more severely affected than females. Early diagnosis and intervention can help manage symptoms and improve the quality of life for individuals with FXS.

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LAST UPDATED:

Jun 21, 2024

EVENT MANAGER:

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