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About Fragile X Awareness Month
Education , Lifestyle
Family & Friends , United States
Ends: Jul 31, 2025
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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