Fragile X Syndrome

Number of Cases Per Year

It is rare. There are fewer than 200,000 cases per year.

It affects 1 in 4,000 males and 1 in 8,000 females.

Who It Affects

It affects both genders, but females have milder symptoms. Affects more in ages 0-40. A study in 2013 has showed that 1 in 151 females were affected and 1 in 468 males were affected. Most males are diagnosed at 35-37 months old and females are diagnosed at 42 months.

Jonathan Doring

Jonathan is a Gold Medal winner for singles men tennis in the Special Olympics. When he was a child, Jonathan would avoid eye contact and would act inappropriately after physical contact.

Symptoms

Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures.

Physical Features include:


  • Large, protruding ears (both)
  • Long face (vertical maxillary excess)
  • High-arched palate (related to the above)
  • Hyperextensible finger joints
  • Hyperextensible ('Double-jointed') thumbs
  • Flat feet
  • Soft skin
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Treatments and DIagnose

It can’t be cured but learning disabilities can be treated with therapy. Medication can treat anxiety and mood disorders. Treating Fragile x is best when the patient is a child. A child's brain is still forming, so the sooner the treatment the better. One way to diagnose Fragile X is to do prenatal tests. There is one test called Amniocentesis, where a health care provider takes a sample of amniotic fluids and test it for the mutation.

Inheritance

Fragile X Syndrome is a sex-linked dominant. Some scientists believe that it is recessive, but some studies proves wrong. Fragile X is caused by a mutation in the FRM1 gene. FRM1 creates a protein called FRMP, which is essential for cognitive development. There is a DNA segment CGG triple repeat. Normally, it is repeated 5 to 40 times, but in Fragile X it is repeated 200 times.

Other people Who have it

Mary Jane Clark, a mystery writer, has a son who has fragile X. Jim Cantore, a famous weatherman, has a child with Fragile X.