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FRAGILE X SYNDROME

 

Fragile X

Fragile-X Syndrome is a genetic condition that causes a wide range of developmental problems including learning disabilities and mental retardation.  It's an inherited X-linked dominant pattern whereby a fragile area of the X chromosome tends to repeat bits of genetic code.  Because boys have only one X chromosome, a single fragile X is more likely to affect them more severely.  Affected males also tend to have notable physical characteristics that become more apparent with age.  Twenty percent of boys with Fragile X will meet the full criteria for autism.  Additionally, most boys and some girls will exhibit symptoms of autism.  

Fragile X occurs in approximately 1 in 4,000 to 6,000 males and 1 in 8,000 to 9,000 females.   In addition to learning difficulties, affected children tend to be restless and inattentive.  Notable physical characteristics in boys will include a long and narrow face, large ears, prominent jaw, unusually flexible fingers, and enlarged testicles (macro-orchidism).  


Fragile X Symptoms
 

• Attention deficits and hyperactivity 
• Autistic behaviors and characteristics
• Large forehead and/or ears with a prominent jaw
• Flat feet
• Mental impairment, ranging from learning disabilities to mental retardation 
• Large testicles (macro-orchidism) 
• Tendency to avoid eye contact 
• Hyperextensible joints, especially fingers 
• Seizures (epilepsy affects approximately 25% of people with Fragile X) 
• Large size for age 
• High anxiety with unstable moods

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