What is Fragile X

 

Fragile X Syndrome is the number one inherited cause of mental impairment in the world today and also the number one known cause of Autism.

 

Autism and Fragile X Syndrome

* FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation.

* FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have autism.

* FACT: Fragile X syndrome is the most common known cause of autism.

If your child is diagnosed with autism, or an autism spectrum disorder (ASD), please ask the doctor to rule out fragile X syndrome by ordering the DNA blood test for Fragile X. http://www.fragilex.org/html/testing.htm

To learn more about the relation between Fragile X and autism please click here: http://www.fragilex.org/html/autism.htm or call the National Fragile X Foundation at 1-800-688-8765.

From Dr. Randi Hagerman's statement to the United States House of Representatives Subcommittee on Health and Environment:

"...Fragile X represents a portal through which we hope to view and treat a wide variety of other disorders of brain development and function. All children with autism...should be tested for Fragile X."

Many more cases of Fragile X Syndrome (FXS) are being diagnosed today, 1 in 1400 boys are affected and 1 in 4000-6000 girls are affected. 1 in 240 women carry the Fragile X Gene and can pass it on to their children. There is a 50 -50 chance each pregnancy that a carrier will pass it to their child and their child will either carry this gene to potentially pass it to their children or become affected by Fragile X Syndrome. Men can also carry this gene and pass it only to their daughters.

There are so many cases that go undiagnosed or misdiagnosed, as there are a lot of Doctors, health care professionals, parents, etc., that do not know what Fragile X Syndrome is and what to look for. It can be diagnosed by a simple blood test using DNA.

We encourage you to visit the sites we have listed on our links page for more in-depth information on Fragile X genetics components as it is very confusing and these sites explain it all correctly explaining DNA, X Chromosomes, permutations, full mutations, etc.

We are not scientists or researchers and will leave it to the experts in this area. We can only share it the way we have been told and what we have read.

Fragile X is caused by a gene called FMR1 that was discovered by scientists in 1991. A defect in this gene shuts it down and causes it to be unable to manufacture a protein that it normally makes causing abnormalities to FMR1 and producing Fragile X, this called a full mutation and therefore you can see the symptoms of Fragile X. Carriers of the gene, that pass it along are not affected by these symptoms, they only have a small defect in the FMR1 and do not show the fragile X symptoms, this is called a permutation. It presents in the X Chromosome, thus the name Fragile X.

Fragile X can be passed by a female or male carrier. Mothers can pass to sons and daughters as they are female and pass on the X Chromosome. Fathers can only pass to their daughters as they pass the X chromosome to them and not to their sons as they pass the Y Chromosome only to their sons. Each child of a female, who carries, has a 50% chance of inheriting the gene. It can be silently passed down from generation to generation in a family before a child becomes affected by the FX gene.

Females are more fortunate because they have 2 X Chromosomes to work with and often don't show signs of Fragile X or aren't as severely affected by it, where as males only have 1 X Chromosome and show signs and are affected by the mutated gene.

Fragile X Syndrome presents with a variety of Behavioral, Physical and Cognitive components. Not everyone with FXS presents with these components, some present with all or a select few. Males are more affected than females as they only have 1, X Chromosome.

Some of the most frequent components are:

There are many more and along with this short list can include Autism, ADHD, ODD, seizures and a variety of other diagnosis and disabilities.

We are a family with 3 children with Fragile X Syndrome and have devoted ourselves to learning and teaching what FXS is and how to live with this disability and work with it. We are not experts by any means but have a lot of information to share and a lot of personal experience living with this little known genetic disability. We currently teach our courses at various Educational Conferences in and around Edmonton and we are now branching out around Alberta to educate others about FXS. We would now love to hit the Health Care field, as there are a lot of mental health issues, medication issues and general health issues associated with FXS.

Please visit our session information page to learn more on our course and how to book a session.

 

 

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