Fragile X Syndrome
Fragile X syndrome
affects a child's learning, behavior, appearance, and health. Symptoms may be
mild or more severe. Boys are more likely to have a more severe form than
girls.
Children born with
this genetic disorder may receive special education and therapy to help them
learn and develop like other children. Medications and other treatments can
improve their behavior and physical symptoms.
What are the symptoms of Fragile X?
There are several,
including:
- Trouble learning skills like sitting, crawling, or walking
- Problems with language and speech
- Hand-flapping and not making eye contact
- Temper tantrums
- Poor impulse control
- Anxiety
- Extreme sensitivity to light or sound
- Hyperactivity and trouble paying attention
- Aggressive and self-destructive behavior in boys
Some children with
fragile X also have changes to their face and body that can include:
- A large head
- A long, narrow face
- Large ears
- A large forehead and chin
- Loose joints
- Flat feet
- Enlarged testicles (after puberty)
Symptoms tend to be
less severe in girls. While most boys with Fragility X have learning and
developmental problems, girls generally do not.
Girls with fragility
X sometimes have trouble getting pregnant as they get older. They may also
enter menopause earlier than usual.
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This condition can
also cause health problems such as:
- Seizures
- Hearing problems
- Vision problems
- Heart problems
What are the reasons?
The FMR1 gene, which
is located on the X chromosome, makes a protein called FMR that helps nerve
cells communicate with each other. This protein is needed by the child for
normal brain development. Children with Fragile X do too little or nothing at
all.
People with this
condition also have more than normal copies of a segment of DNA known as CGG.
For most people, this segment is repeated 5 to 40 times. In people with
withdrawal X, it occurs more than 200 times. The more this segment of DNA is
repeated, the more severe the symptoms.
A mother with the
FMR1 gene has a 50% chance of passing it on to one of her children. A father
can only pass it on to his daughters.
Boys are more likely
than girls to have a fragile X chromosome and have more severe symptoms. This
is because girls have two copies of the X chromosome. Boys have an X chromosome
and a Y chromosome. If the X chromosome has the gene change, they will have
symptoms of Fragile X Syndrome.
Some people inherit
the fragile X gene without showing symptoms. They are called carriers. Carriers
can pass the genetic changes on to their children.
How is it diagnosed?
These tests can be
done during pregnancy to see if the unborn baby has fragile X:
- Amniocentesis - Doctors test a sample of amniotic fluid for changes in the FMR1 gene.
- Chorionic villus sampling - doctors test a sample of placental cells for the
presence of the FMR1 gene.
After the baby is
born, a blood test is used to diagnose fragile X syndrome. This test looks for
a change in the FMR1 gene.
Children born with
fragile X syndrome do not always show signs of it. The doctor may notice that
the baby's head is larger than usual. As the child grows, learning and
behavioral problems may appear.
What is the treatment?
No medicine can cure
Fragile X. Treatment can help your child learn and deal with problem behavior
more easily. Options include:
- Special education to help with learning
- Speech and language therapy
- Occupational therapy to help with daily tasks
- Behavior therapy
- Medicines to prevent seizures, treat symptoms of attention deficit disorder such as hyperactivity, and treat other behavioral problems.
The sooner you start treatment, the better. Work with your child's doctor, teachers, and therapists to develop a treatment plan. Your child may also be eligible for free special education services.