Fragile X Syndrome (cont.)
What are the options for adults who have Fragile X syndrome?
IDEA requires transition plans for moving from one phase of life to another,
and the move from teenager to young adult to adult is no exception. The special
services team, which can include family, teachers, a school psychologist, and
other developmental specialists, makes the transition plan based on the
individual's needs, interests, and skills. These plans may include vocational
assessment and training, additional education, supported employment, and
community participation. IDEA requires that the plan be in place by the time the
individual is 16 years old. The plan will also consider the individual's level
of independence to determine what type of living arrangements he or she might
benefit from in the future.
As the teenager with Fragile X gets closer to finishing high school, or to
his or her 21st birthday, the structure of his or her day may change to include
work/study programs, job-related behavior training, and independent living
classes. With the proper treatment and training, a young person with Fragile X
may be able to live on his or her own, hold a job, and be an active member of
his or her community.
What should I do if I find out someone in my family has Fragile X syndrome?
If someone in your family, a child or an adult, is diagnosed with Fragile X,
you may also want to be tested to see if you have a mutated FMR1 gene. It is now
possible to test for Fragile X in people of any age, as well as before birth.
These tests are simple and accurate.
At present, testing for Fragile X is not done routinely. The tests are often
done to help diagnose a child who is developmentally delayed or shows signs of
autism or mental retardation.19 Couples who have one or more
relatives with mental retardation of unknown cause may also want to be evaluated
before deciding to have a child.
Health care professionals may also recommend an evaluation for Fragile X in a
person with one of the following traits:20
- Any person who has mental retardation of unknown cause,
developmental delay, or learning disability
- Any person with autism or showing autism-like behaviors
- Any person with a relative who has Fragile X or mental retardation
of unknown cause
- Anyone who was previously assessed for Fragile X using the
chromosome test (see description on the next page)
- Women with premature ovarian failure (POF) or with a family
history of POF
Tests commonly used to diagnose Fragile X
A number of tests are used to diagnose Fragile X. Each
test has its limitations, so in many cases more than one test
may be used. The most accurate tests are DNA tests.
- DNA molecular tests count the number of CGG repeats in the
promoter region of the FMR1 gene and check to see if the gene is methylated
(inactive). These tests are used most often to diagnose Fragile X. The two
main DNA tests include:
- Southern Blot studies how quickly DNA pieces move through a
liquid or gel when exposed to electricity. Although good at finding
large numbers of repeats and determining methylation, this process is
rather slow.
- Polymerase Chain Reaction (PCR)
multiplies the amount of DNA being tested so it can be analyzed more
quickly. Although it can miss some large repeat mutations, this test is
much faster to perform and is very good at detecting small and
medium-sized repeat segments.
- Chromosome test looks for the "broken" area of a chromosome using
a microscope. Because this test is older, costly, and often inaccurate, it
is recommended that another type of test be used to diagnose Fragile X. The
DNA test is needed to confirm the diagnosis.
- Protein test measures the amount of FMRP produced by living
cells. This test is useful for screening large groups of people for Fragile
X. In the future, this test may be helpful in evaluating how severe an FMR1
mutation is. The DNA test is needed to confirm the diagnosis.
|
Prenatal testing for families who are at risk
|
| A pregnant woman who has characteristics that place her at risk for
Fragile X, such as features of Fragile X or a family history that
suggests the presence of Fragile X, may want to have a prenatal test.
During such a test, the doctor either takes a sample of amniotic fluid,
a process called amniocentesis, or takes a sample of cells from the
placenta, a process called chorionic villus sampling. Then the cells are
sent to a lab, where they go through one of the methods used to diagnose
Fragile X. Cells that contain a larger number of CGG repeats would be
diagnosed as having Fragile X. |
These tests can be done on many different types of body tissues. In most
cases, a simple blood test provides the cells needed. But cells from hair roots
and from inside the cheek can also be used. If you or one of your family members
wants to be tested, talk to your health care provider. He or she will likely
take a sample of your blood and send it to a lab. The results will come back in
a number of weeks. For more information on tests for Fragile X and their
features, please refer to the Additional Resources section.
Next: What is being done to develop treatments or a cure for Fragile X syndrome? »
- Amniocentesis - Learn about amniocentesis, a procedure that examines the chromosomes of the fetus to determine lung maturity, and the possiblities of birth defects.
- Learning Disabilities - Read about learning disabilities, like the skills affected such as reading, writing, listening, speaking, reasoning, and mathematics. Causes, symptoms, diagnosis, and treatment information is included.
- Premature Ovarian Failure (POF) - Learn about premature ovarian failure (POF) - (the normal functioning of ovaries in women under 40 stop). Some causes of POF include follicle depletion or dysfunction.
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