Fragile X syndrome in males is usually more severe than in females and males are never asymptomatic. This is because males have only one X chromosome (unlike females that have 2 “X” chromosomes) and therefore any defect on the X chromosome is likely to be displayed. Females tend to have fewer and milder abnormalities than males. This is because they inherit two X chromosomes, one of which is inactivated randomly in each cell.
Common symptoms include:
Diagnosis for fragile X syndrome is based on molecular genetic analysis that measures the length of the CGG repeats in the FMR-1 region. This test can be performed from a blood sample and/or (in a fetus), through amniotic fluid testing.
The goal of treatment is to minimize the symptoms resulting from fragile X syndrome. Management of children and adolescents with fragile X syndrome is individualized according the degree and type of child’s cognitive and behavioral symptoms, strengths and weaknesses.
Genetic counseling should be offered to families of individuals with fragile X syndrome, since this may be an inherited disorder.
Children and adolescents with fragile X syndrome have special educational and behavioral needs and should be referred to counselors and speech therapists for help with coping and minimizing the associated problems.
Life span is generally unaffected by the disorder.
Both genders can be affected; it occurs more commonly in males (1 in 3600 males compared to 1 in 4000-6000 females).
There is no guideline for the prevention of fragile X syndrome.
Fragile X syndrome is a genetic condition that a person is born with. It is a result of a defect of a part of the “X” chromosome. Fragile X syndrome causes learning and behavior problems, as well as abnormal body features. It occurs more commonly in boys than girls. The cause is unknown; it may be inherited or a result of unexpected damage to the X chromosome.
What are the symptoms?
Symptoms that commonly occur in persons with Fragile X include:
How is it diagnosed?
Diagnosis is made through a family history screening during which your doctor will ask if any member of your family has had symptoms seen in patients with fragile X syndrome. Then a blood test will be performed that will determine if a person has problems with their X chromosome.
What is the treatment?
Currently there is no cure for fragile X syndrome. Treatment centers around controlling a person’s symptoms. For example, a children’s teacher can help develop a special learning plan, behavior counselors and speech therapists can work with a child to help improve language and behavior problems, certain medications may be prescribed to help a child pay attention.