Fragile X Syndrome

Fragile x syndrome is one of the most common causes of mental retardation. This disease occurs mostly in boys. Girls are more likely to play a carrier role in the disease. The disease occurs once in 1000-2000 male child births. Its incidence in girls is much lower (1/4000). While the carrier rate is 1 in 250 for girls, it is 1 in 800 for boys. While the disease is very severe in boys, it is milder in girls.

What are the symptoms?

  • ” Mental retardation, learning disabilities,
  • ” Attention deficit and hyperactivity
  • ” Distress, depression, and adjustment disorders
  • ” Otistik davranışlar (%15-20); zayıf göz teması, tırnak yeme, sosyal ilişki kuramama, el çırpmalar, garip hareketler
  • "Behavior disorders" Speech delay
  • ” Long face, wide ears, flat feet
  • Flexible joints (hypermobility), especially in the fingers
  • ” Sara nöbetleri (%25)
  • ” Strabismus
  • ” Big testicles
  • ” Poor muscle tone
  • ” There may be a defect in the heart valves.

Treatment

There is no complete cure for fragile x syndrome. It is possible to detect carriers through blood tests. Consanguineous marriages should be prevented.
Treatments for behavioral disorders. Speech and language disorders require treatment.

Seizures must be treated.

The basis of treatment is long-term rehabilitation programs.