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FRAGILE X SYNDROME - a parent's guide
Editorial Team
Overview
Fragile X syndrome is an inherited condition and is the most common
inherited mental handicap.
It affects boys worse than girls and can cause significant learning
difficulties.
Unaffected family members can pass the genetic disorder onto their own
children or grandchildren.
The syndrome may not be recognised until mid-childhood.
Treatment involves behavioural therapy, special education, speech therapy,
and medication in some cases.
New testing strategies are being recommended to identify carriers of
the gene.
What is it?
Fragile X syndrome is an inherited condition and is linked to a problem
with the X chromosome.
Boys are generally more severely affected than girls, probably because
girls carry two X chromosomes - one of which is presumed to be normal.
The disorder causes a mental disability in about one in 4000 boys and
one in 8000 girls.
Most boys will need extra help at school and may never be able to live
on their own. Girls may have milder learning problems and many grow up
to live independently.
Half of girls with the gene are not considered mentally disabled, but
most have some learning problems.
Unaffected family members can pass the genetic mutation onto their own
children or grandchildren, and in some cases the disorder has been passed
on in families for many generations. In other circumstances the syndrome
can skip several generations before it shows up again.
An estimated one in 250 women carry the fragile X premutation.
What are the symptoms?
Sometimes the disorder can go unrecognised until mid-childhood. However,
the syndrome can be diagnosed by neonatal screening.
Most boys will show some level of mental retardation with an IQ of 60
or 70 (normal or "average" IQ is 100). An estimated 80 percent of affected
boys and 35 percent of girls with the syndrome will have some degree of
intellectual handicap.
Learning difficulties include slow learning, delayed speech, attention
deficit disorder, and hyperactivity. Affected individuals may also show
some form of autism and/or aggression.
Fragile X syndrome also has some physical characteristics that affect
some individuals. Adult males may have a long face, large ears and large
testicles.
Affected girls may have a thin face, and prominent ears.
Sufferers of both sexes may also have double-jointed fingers, flat feet
and a heart murmur.
What can be done to help?
There is no cure for fragile X syndrome, but special education is available
to help affected children.
Various forms of therapy can help including speech and occupational
therapy.
Educational programmes should be developed to meet the individual's
strengths and weaknesses. The child's behavioural problems and physical
needs must also be addressed.
Medication can also be used in some cases to control hyperactivity,
aggression, and/or depression.
Future trends
There is concern that information about the syndrome is not being passed
down to new generations due to the disorder sometimes skipping several
generations.
A new screening system to test girls at college or during ante-natal
testing, or testing boys at birth is now being advocated to identify carriers
earlier and enable them to make informed family planning decisions.
An Australian programme offering genetic testing to families affected
by the syndrome has resulted in a reduction in the fragile X syndrome
from 2.5 to 1 in 10,000 in the past 10 years.
Getting help
It is possible to screen for the syndrome while pregnant with the use
of amniocentesis or chorionic villus sampling (CVS) and decide whether
to continue with the pregnancy.
All couples with a family history of the disorder should seek genetic
counselling prior to having children, and undergo screening during pregnancy.
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Other Sources of Information
http://www.fragilex.org
The Medic8® Family Health Guide
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