Is It Autism, or is it Fragile X Syndrome?
How many children have been diagnosed as Autistic
without having the simple blood test to determine whether they
have Fragile X Syndrome? If that is your child, run don’t walk
to your Doctor’s office and request the blood test. Yes, there
is a simple test to identify the difference.
The correlation is remarkable and overlaps in many
cases. For between 2% and 6% of all children diagnosed with
autism the cause is the Fragile X gene mutation.1
Even more remarkable is the fact that between 15% and 30% of
boys with Fragile X meet the diagnostic criteria for autism.2
Why is there so little public discourse concerning Fragile X
when there is a diagnosis of autism? If you don’t know much
about Fragile X syndrome you are not alone.
There is an entire spectrum of abilities for Fragile X
Syndrome children and adults ranging from the learning-disabled
to the very low functioning, with some similarities to the
Autistic Spectrum. Fragile X Syndrome is the second most common
cause of retardation, but the range of functioning is broad with
many strengths and weaknesses.
Fragile X Syndrome is an X-linked hereditary disease
affecting cognitive, physical, and sensory development. It
involves genetic repeats found near the tip of the X chromosome.
There are many overlapping characteristics between
Autistic and Fragile X Syndrome children. These include hand
flapping, poor eye contact, repetitive, self-stimulating motor
behaviors, as well as difficulty with social interactions, and
poor play skills. The profile of Fragile X children with
autistic features is visually indistinguishable from the
children with autism and those without Fragile X Syndrome.
For young children these behaviors are easily
identified, and cry out for appropriate educational settings and
therapy for both autistic and Fragile X syndrome children.
Multiple sources of information are critical, and that would
include both medical and observational rating scales. It is
important for children with Fragile X Syndrome to seek genetic
counseling and access to treatments that have proven to be
effective for these children.
Some of the success stories involve the use of
schedules, calming techniques, emphasis on functional language,
visual cueing, and focusing on concrete experience based
learning.
My Fragile X Syndrome son is now an adult, and as a
result of the assistance of many educators, doctors and
therapists, he is able to function as an independent adult. The
journey was a difficult one fraught with trials and goals that,
at times, seemed much too difficult to attain. Some of his
autistic characteristics have slowed with age. We do not have an
explanation to share with others, except to suggest that he
independently developed ways to control those behaviors. You
will never seem him flap his hands in public, and he hasn’t for
many years. Still, while he was working on stifling that
behavior in public he could still be observed continuing it at
home. It seems these behaviors have faded with time. Somehow he
was able to compensate. Social interaction continues to be a
challenge, and he has learned to “smile and nod” when he is at a
loss for the proper reaction. This “smile and nod” behavior has
allowed him to survive in a work environment using a
non-threatening response, as well as a pleasant one.
We still grapple with the lack of friendships that he
has difficulty fostering. . While a toddler, it was easy to play
in the sandbox and parallel play with others, but as an adult,
who, needs to communicate and interact, we have had only minimal
success with structured activities. We often wonder if he wasn’t
disabled whether he still would have had a propensity to be a
loner as well. With the advent of gene therapy, we await the
future and the promise for a cure for our son and all others
diagnosed with Autism.
1. National Fragile X Foundation
Website: http://www.FraileX.org
2.
Randi Hagerman, MD Medical
Director, UC Davis Medical Center, M. I. N.D. Institute
For more information on Fragile X Syndrome, please
contact The National Fragile X web site at http://www.
FragileX.org
Marilyn Morgan is the author of The Broken Toy: The story of a Fragile X Syndrome Child
Copyright © 2009 Marilyn Morgan
Originally appeared in "Autism Today"
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