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Fragile WHAT?
Mary Beth Langan and Sally
Nantais, July 2006
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Although
Fragile X Syndrome is the most common known cause of inherited
cognitive impairment, the up-to-date name for mental
retardation, the average person has not heard of Fragile X
Syndrome. The average health professional has very little
knowledge, or dated knowledge, of Fragile X Syndrome. Until our
children were diagnosed, we were average people asking, “Fragile
what?”
Cognitive
impairment related to Fragile X Syndrome affects probably one in
4,000. However, because more milder learning difficulties are
probably much more common, it is estimated that one in 2,000 are
affected.
Approximately 1
in 100 to 200 women and 1 in 800 men are carriers of Fragile X
Syndrome.**
It’s critical
to remember these numbers are only estimates because it is also
estimated that 80-90% of people with FXS are not yet correctly
diagnosed.
Fragile X
Syndrome is a genetic condition caused by a mutation of the FMR1
gene on the X chromosome. The mutation can differ from person
to person, typically a boy with a full-mutation’s genetic
material does not produce FMR1 protein, or not enough of it.
Through research, it has been determined that the FMR1 protein
is critical for typical brain development. Boys only have one X
chromosome, therefore they are typically more affected than
girls. Girls have an advantage because they have two X
chromosomes; an unaffected chromosome may produce enough FMR1
limiting the affect.
What does this really mean?
Unless a parent
already knew they were a carrier of Fragile X Syndrome (FXS),
they wouldn’t know their child might have FXS until they began
to see developmental delays. There are minor physical traits
noted in many persons with FXS, but not in all. These are
traits which may also be present within the typical population,
nothing unique which would necessarily indicate FXS testing is
necessary for your child.
Fragile X
Syndrome may cause:
·
Mild learning problems to severe cognitive
impairment
·
Behavior issues such as ADHD and ADD
·
Autistic-like features such as poor social
skills, poor eye contact, hand-biting and hand-flapping
·
Shyness and social anxiety
The majority of
persons with FXS have autistic-like features (estimated at
50–90%); a smaller percentage (approximately 30%) have a true
dual diagnosis of autism.
Within the
first few years in the life of a child with undiagnosed FXS, two
of the most common things parents often notice are language
delays and sensory issues. Even after a diagnosis of FXS, many
parents believe working on these issues are the most important
methods to help their child be the best they can be.
In recent
years, research has also discovered that Fragile X Syndrome (FXS)
not only affects children with a full mutation, but also male
and female carriers of FXS.
· Fragile
X-associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001,
is a neurological disorder that can involve tremors, balance
irregularities, difficulty walking and dementia which sadly is
often misdiagnosed as Parkinson's and/or Alzheimer’s. This
condition is present in some older FXS carriers (typically after
the age of fifty), usually in males but FXTAS can also affect
female carriers.
· Premature
Ovarian Failure, more commonly known as early menopause, is a
condition that affects 20-28% of the female FXS carrier
population.
Who should test
for Fragile X Syndrome?
According to the American College
of Medical Genetics (revised 2005), individuals for whom testing
should be considered:
Fragile X Syndrome:
Individuals of either sex with mental retardation, developmental
delay, or autism, especially if they have (a) any physical or
behavioral characteristics of fragile X syndrome, (b) a family
history of fragile X syndrome, or (c) male or female relatives
with undiagnosed mental retardation. Individuals seeking
reproductive counseling who have (a) a family history of fragile
X syndrome or (b) a family history of undiagnosed mental
retardation.
Ovarian dysfunction:
Women who are experiencing
reproductive or fertility problems associated with elevated
follicle stimulating hormone (FSH) levels, especially if they
have (a) a family history of premature ovarian failure, (b) a
family history of fragile X syndrome, or (c) male or female
relatives with undiagnosed mental retardation.
Tremor/ataxia syndrome:
Men and women
who are experiencing late onset intention tremor and cerebellar
ataxia of unknown origin, especially if they have (a) a family
history of movement disorders, (b) a family history of fragile X
syndrome, or (c) male or female relatives with undiagnosed
mental retardation.
Testing
criteria is specific, yet as parents of first generation
children with Fragile X Syndrome, we often question statements
like “male or female relatives with undiagnosed mental
retardation.” Until our children were born, no one in our
families fit this description.
What is the
most important reason for testing for Fragile X Syndrome?
Test for
Fragile X Syndrome (FXS) to obtain a diagnosis or to rule it
out. If you don’t have what may be the correct diagnosis of FXS,
then you will never be aware of improved treatments or the cure
when it’s found.
Within our
lifetime, quite possibly within the next 10-20 years, we believe
there will be a cure. With a diagnosis of Fragile X Syndrome,
there is hope. After all, they are just one gene away from a
cure.
When testing
for Fragile X Syndrome, it is critical that the correct blood
tests are ordered – the Fragile X DNA (Southern Blot) and
Polymerase Chain Reaction (PCR) tests. Inaccurate results occur
far too often with the generic chromosomal panel.
If you would
like to learn more about Fragile X Syndrome, go to fragilex.org
for the National Fragile X Foundation or fraxa.org for
the FRAXA Research Foundation.
July 22 is
Fragile X Awareness Day. Our hope is that this time, next year,
we won’t hear “Fragile what?” as often, at least we’ll
know you won’t be asking “Fragile what?”
Mary Beth
Langan and Sally Nantais are both Fragile X Syndrome carriers;
each has a son with Fragile X Syndrome. They can be contacted at
mblangan@hotmail.com
and
sally_nada@juno.com
** American
Academy of Family Physicians, News and Publications, Vol. 72/No.
1 (July 1, 2005)
http://www.aafp.org/afp/20050701/111.html
Mary Beth Langan and Sally
Nantais are both Fragile X Syndrome carriers; each have a son
with Fragile X Syndrome and autism. They can be contacted at
mblangan@hotmail.com
and
sally_nada@juno.com.
The Top Ten
Things You Should Know About Fragile X Syndrome
Mary Beth Langan and Sally
Nantais, July 2006
-
It’s genetic.
-
If a woman is a carrier, she has
a 50/50 chance of passing it on to her son(s) or daughter(s).
1 in 100 to 200 women are carriers **.
-
If a man is a carrier he will
pass it only to his daughter(s), and they will only be
carriers. 1 in 800 men are carriers.
-
Fragile X Syndrome does not
discriminate; it doesn’t care which ethnic group you belong
to.
-
Fragile X Syndrome is a spectrum
disorder. Symptoms may vary from mild learning disabilities
(including shyness and social anxiety) to severe cognitive
impairment (mental retardation).
-
Premature Ovarian Failure, more
commonly known as early menopause, is a condition that affects
20-28% of the female FXS carrier population.
-
Fragile X-associated
Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a
neurological disorder that can involve tremors, balance
irregularities, difficulty walking and dementia which sadly is
often misdiagnosed as Parkinson's and/or Alzheimer’s. This
condition is present in some older FXS carriers (typically
after the age of fifty), usually in males but FXTAS can also
affect female carriers.
-
There are minor physical traits
noted in many persons with Fragile X Syndrome, but not in
all. These are traits which may also be present within the
typical population, nothing unique which would necessarily
indicate FXS testing is necessary for your child.
-
When testing for Fragile X
Syndrome (FXS), it is critical that the correct tests are
ordered – the Fragile X DNA (Southern Blot) and Polymerase
Chain Reaction (PCR) tests. Inaccurate results occur far too
often with the generic chromosomal panel. Test for FXS to
obtain a diagnosis or to rule it out. If you don’t have what
may be the correct diagnosis of FXS, then you will never be
aware of improved treatments or the cure when it’s found.
-
Where to go for the most accurate
and up-to-date information on fragile X syndrome:
www.fragileX.org, the
National Fragile X Foundation
www.FRAXA.org, Fraxa
Research Foundation
** American Academy of Family Physicians, News
and Publications,
Vol. 72/No.
1 (July 1, 2005)
http://www.aafp.org/afp/20050701/111.html
Mary Beth Langan and Sally
Nantais are both Fragile X Syndrome carriers; each have a son
with Fragile X Syndrome and autism. They can be contacted at
mblangan@hotmail.com
and
sally_nada@juno.com.
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