One of the most common inherited
causes of mental retardation is the Fragile X Syndrome. Its
symptoms include mental retardation of varying severity, learning
difficulties, attention deficit hyperactive disorder (ADHD), etc.
Affected males generally have enlarged ears, long face and
prominent chin, autistic-like behavior and speech impediments.
Connective tissue abnormalities may also be present, which may
lead to ear infections, flat feet, double-jointed fingers and
other skeletal problems. It predominantly affects males, although
females may also be affected but with less pronounced symptoms.
Affected females also tend to express extreme shyness, attention
problems and depression.
Fragile X Syndrome is an X-linked disorder caused by mutations on
the FMR1 gene, which is involved in brain development. The FMR1
gene contains a region where the DNA sequence is repeated several
times. An individual with a few more than normal number of repeats
of this sequence is considered a carrier of this disease. A
carrier generally does not show any symptoms. An estimated one in
three hundred women are carriers. An individual affected with
Fragile X Syndrome has a significantly higher number of repeats
than a carrier and is referred to as a “full mutation” patient.
There is currently no cure for Fragile X syndrome. Treatments for
Fragile X deal not with the underlying disorder but with the
symptoms. These include various medications to address any
aggression, anxiety or attention disorder that affected
individuals might experience. Patients are usually enrolled in
special education, undergo speech and physical therapy. Due to the
varying extent of these symptoms, it is important that each
patient be carefully diagnosed so a treatment plan may be devised
specifically for the needs of that patient.
Couples who are at risk of having a child with Fragile X Syndrome
can now take advantage of a new technology called Pre-Implantation
Genetic Diagnosis (PGD). Through PGD, an embryo conceived through
IVF may be tested for a known genetic defect, such as Fragile X
Syndrome. Embryos determined not to be affected are implanted into
the uterus. At risk couples can have reassurance that a
debilitating disease will not affect their child.
Couples who are at risk of having a child with
Fragile X Syndrome can now take advantage of a new technology
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