Unfortunately, I don’t know much about the terminology used for Fragile x. My son being autistic. But I can answer your spectrum question, since the spectrum is used when refering to disorders of autistic nature. It is actually the autism spectrum. Pervasive Developmental Disorders or PDD is an umbrella term that covers 5 disorders that are of autistic nature. There is Autism, Asperger, Rett Syndrome, Chilhood Desintegrative Disorder and PDD-NOS (Not Otherwise Specified). If you look in the DSM-IV (Diagnostic and statistical manual of Mental Disorders) there is a description of what criteria the child should meet to be diagnosed with one of these labels and, therefore, be considered on the spectrum. It gets even more complicated now, because doctors are starting to categorize children within the same diagnose. For example, they are now making a difference between Low-Functionning and High-Functionning autism. This is where the spectrum finds all its meaning. It is called a spectrum because affected individuals can be very different from each other. The same symptoms range from mild to severe, and a person might have some of the symptoms or behaviors, and another person with the same autism diagnose will have other symptoms, but they are both autistic. It is a spectrum because an autistic person can be on the very mild end of it and be able to go to school, have a job and a family, at the same time, a person on the severe end, will exibit lots of behaviors, may be intellectually handicapped, and non-communicative. Asperger is usually considered on the mild end of the spectrum, as well as high-functionning autism and PDD-NOS, because there is usually no mental retardation associated. Retts Syndrome affects almost exclusively girls and is usually more severe. PDD-NOS is diagnosed when a child exibit some behaviors and symptoms of autism, but does not meet all the criteria for that label.

Anyway, I hope I did not get you even more confused! I hope this helps!

Yes, when I have been through the process personally in the past year. The standard procedure is to run blood tests to look for other specific problems, fragile x being one of them. Do the research.

“here is the first line of the link you put the first problem with this is you can not usually diagnose autism this early when my son was being screaned for autism the doctors told me they could not do it till he was at least 5 or 6 years”

Not anymore. My children were 18 months old.

While it is possible that the two can co-exist, the percentage of cases where that happens in relatively small (

This is no longer true. It used to be that doctors could not diagnose before 5 or 6, but that was a long time ago. My son is 8 and was diagnose at 3 (five years ago). Right now, some children are being diagnose as young as 18 month. A lot of research was done in recent years to enable doctors to diagnose early, because in autism, the earlier you get therapy, the better the outcome. So today the norm for being diagnosed with autism is 3 yo and in some cases it is even younger.

“and for another thing if fragile x is not in the spectrum then when a doctor is testing within the spectrum why would they test for fragile x.”

Simply to eliminate that possibility! Fragile x do present like autism. But with Fragile x there is a test to confirm it. There is no test for autism. And for fragile x, we do know the cause, but not for autism. I guess that all people with fragile x may be considered autistic (because of the symptoms), but not all people with autism are considered Fragile x.

“no fragile x is not in the spectrum but it should be. ”

Maybe fragile x should be considered on the spectrum, I have no idea why it’s not part of it.

“i would just like to say go to http://www.fraxa.org and do some research before you start telling other people their wrong”

Well, for obvious reasons (your son having fragile x) you have researched fragile x and seem to know a lot about it. But before you start telling people they’re wrong, you should also do a little research on autism. I have read all the books, websites, medical journals I could get my hands on since my son was diagnosed with autism. I don’t know much about fragile x, since it was ruled out early on in the process. But I do know a lot about autism. And, although what you write about fragile x may be right, you need do to some research yourself on the subject of autism before calling people lazy.

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Home > About Fragile X > Cause

Just One Gene

Drs. Ben Oostra, Stephen Warren, and David
Nelson discovered the gene for Fragile X.
FRAXA is the name they gave the mutation
which causes Fragile X
In 1991, scientists discovered the gene (called FMR1 for “Fragile X Mental Retardation - 1″) that causes fragile X. In people with Fragile X, a defect in FMR1 (a “full mutation”) shuts the gene down. Like a defective factory, FMR1 cannot manufacture the protein that it normally makes.

Other individuals are carriers: they have a small defect in FMR1 (called a “premutation”) but do not show symptoms.

Fragile X is inherited. Carrier men pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene defect. The Fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome.

The Fragile X Gene
The FMR1 gene is located on the long arm of the X chromosome. At the start of this gene lies a region of DNA which varies in length from one person to another. Ordinarily, this stretch of DNA falls within a range of length that would be considered “normal”.

In some people, however, this stretch of DNA is somewhat longer; this gene change is called a “premutation”. Although a person who carries the premutation does not typically have symptoms of Fragile X, the stretch of DNA is prone to further expansion when it is passed from a woman to her children. When the stretch of DNA expands beyond a certain length, the gene is switched off and does not produce the protein that it is normally makes. This gene change is called a “full mutation”.

A male who inherits a full mutation exhibits Fragile X syndrome because his only X chromosome contains the mutated gene. A female may not be as severely affected because each cell of her body needs to use only one of its two X chromosomes and randomly inactivates the other.

How is Fragile X inherited?

Each cell in the body contains forty-six (twenty-three pairs of) chromosomes. These chromosomes consist of genetic material (DNA) necessary for the production of proteins which lead to growth, development and physical and intellectual characteristics.

The first twenty-two pairs of chromosomes are the same in males and females. The remaining two chromosomes, X and Y, determine whether a person is male or female.

Males have only one X chromosome which is inherited from the mother. They receive a Y chromosome from the father. Females inherit two X chromosomes, one from each parent.

How common is Fragile X?

Fragile X syndrome is the most common inherited cause of mental impairment and the most common known cause of autism. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control). About 1 in 259 women carry fragile X and could pass it to their children. About 1 in 800 men carry fragile X; their daughters will also be carriers.

Large-scale population studies of fragile X still need to be done, but it is clear that this is one of the most common genetic diseases in humans. Most people with fragile X are not yet correctly diagnosed.

Testing for Fragile X

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©1997-2007 FRAXA Research Foundation, 45 Pleasant St., Newburyport, MA 01950. Phone: 978-462-1866. Contact Us
Editor/writers: Katie Clapp, MS, and Michael Tranfaglia, MD. Updated 3/17/07. All rights reserved. Created by Hookumu

here is the first line of the link you put the first problem with this is you can not usually diagnose autism this early when my son was being screaned for autism the doctors told me they could not do it till he was at least 5 or 6 years old. and for another thing if fragile x is not in the spectrum then when a doctor is testing within the spectrum why would they test for fragile x. no fragile x is not in the spectrum but it should be. i would just like to say go to http://www.fraxa.org and do some research before you start telling other people their wrong

No, you wouldn’t. When a diagnosis of autism is done the standard procedure it to run a series of blood tests looking for other diseases that could be causing the symptoms. This list includes fragile x as well as other known genetic disorders. If you do a quick search on google you will see this information many places (ex http://www.neurologychannel.com/autism/diagnosis.shtml).

This touches on not only the misdiagnosis but the entirely missed diagnosis. I think you have given some examples in your blog, especially in describing the common behaviors seen in people with a neurological difference. I would like to point out that my children were screened for Fragile X and it was ruled out. Thanks to research in the past, the physical markers for Fragile X are known and I am sure those are not the parents out picketing preservatives.

No one wants to see parents stop vaccinating their children, and the needless deaths and illness that would follow from horrible diseases we have practically eradicated. I am not current on the Thiomersal, the last I heard it was being phased out and autism rates remained the same in Thiomersal free vaccinated children. Who knows though, numbers can and have been manipulated, these are huge stakes for government healthcare and no one wants mass panic, parents avoiding inoculations and people dying from preventable diseases.

For the most part, my experience and reading posts from late diagnosed autistic adults has had me leaning toward genetics. But I am around groups of varying abilities like you, not because of work in institutions, but because of support groups and playgroups for people who share the same challenges. I had a hard time recently holding firmly to my leanings when I spoke with a dad who had a typically developing son, who was vaccinated, and he believed neurologically damaged. What bothered me, was that you could see in myself and my children the differences, very early on. My children were not developing typically before or after vaccinations. This man had video of his children interacting with his young son, and he was making eye contact, and looked spot on for his developmental milestones. From this to avoiding eye contact, head banging, rocking and extinction of speech.

I still don’t know, but it made me see the other sides view in an up close and personal kind of way, maybe just as a mom would. Some time in the future we will have the answers, remember how very young we are relatively speaking in how we approach medicine and genetics. Every day brings new insight, soon current methods and views will be as obsolete as a refrigerator mother.

This claim is simply wrong. “The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000-6,000 females”(from wiki) and Autism rate in the US is 1 in 150.