delays and learning disabilities can come in as many different forms
as there are children. As we learn to understand each, it's
important to have conditions correctly diagnosed so that children
can benefit from early intervention and therapies that will help
them grow to their fullest potentials.
Fragile X syndrome
You've probably never heard of the most common form
of inherited mental impairment, fragile X syndrome. Because of its
recent discovery in 1991, many doctors and pediatricians haven't
heard of it either. Fragile X was the first gene uncovered in the
Human Genome Project. Researchers estimate that fragile X affects
approximately one in every 2000 boys and one in every 4,000 girls.
But even today, many people with fragile X are still not correctly
Completely typical at birth
Most children with fragile X appear completely
typical at birth, but gradually they experience developmental
delays. As the delays become evident, parents grow confused.
"My daughter isn't sitting up by herself."
"He's still not talking at 18 months."
"He cries all the time. I feel like a bad parent. "
Frustrated, parents visit specialist after
specialist in hope of an answer or cause for their child's delayed
Fragile X syndrome is a genetic condition caused by
a single gene whose code changes. The defect causes a disruption
between the sending and receiving of messages required for proper
brain development and functioning. When this gene is altered, it can
cause developmental delays and mild to severe learning disabilities,
including mental retardation.
Children may have some or none of the common
characteristics, which contributes to the difficulty in diagnosing
Some of the most common physical characteristics include:
Eye and vision impairments
High arched palate
Hyper-extensible joints (double-jointed)
Large testicles (evident after puberty)
Low muscle tone
Some of the most common behavioral characteristics
Anxiety and shyness
Autism and autistic-like behavior
Hand biting and hand-flapping
Hyperactivity and short attention span
Perseveration-repetition of the same actions or words
Poor eye contact
Because children are born typically, and parents
are unaware of this condition, often times, affected families have
more than one fragile X child. Since the gene can pass silently
through generations, undetected, and then affect a child, any one
with undiagnosed mental retardation in his or her family should be
A simple DNA blood test is available to determine
if a child is affected or if a person carries the fragile X gene. A
carrier is a man or woman who may show no signs of impairment, but
whose gene changes when passed onto a child. One in every 260 women
carries this gene and with each pregnancy she has a 50 percent
chance of passing it on. The same test is used for prenatal
Currently, only the symptoms of fragile X can be
treated. Early intervention programs involving occupational,
physical, speech, and sensory integration therapies are most often
Research on treating the "root cause" of fragile X
is rapidly moving forward. Only one protein is missing with the
syndrome, so compared to other conditions that involve many other
proteins and genes, solving the problem of fragile X syndrome is
relatively simple. Research on this gene contributes to finding
cures and treatments to other conditions such as Down syndrome,
autism, and Alzheimer's.
The FRAXA Research Foundation was founded to
support scientific research aimed at finding a treatment and a cure
for fragile X syndrome. With Nobel Prize-winning scientists, Dr.
James Watson and Dr. Eric Kandel, serving on the advisory board of
the FRAXA Research Foundation, there is great hope for future
generations. For more information, contact:
Fragile X Association of Washington State
e-mail , website
FRAXA Research Foundation