I understand Nightline is having a program on Vaccines causing autism.
Well, label me skeptical. Mercury in vaccines has been around a long time, yet the “autism” epidemic is much more recent.
S
The problem with “autism” is that it is a wastebucket diagnosis, covering a syndrome that has become elastic. If you include “Asberger’s syndrome”, it is a diagnosis wide enough to include Einstein.
But few realize a syndrome is a set of symptoms that go together, and aren’t always caused by the same disease or toxin.
For example, “dementia” can be Alzheimer’s disease, due to lack of Vitamin B12 or other B vitamins, from heavy metals, from years of alcohol abuse, from brain trauma, from viruses (encephalitis) or from multiple small strokes.
Similarly, autism may have many different causes.
Years ago, in order to be home with my kids, I worked part time at a nearby institution for retarded adults. We saw lots of adults who were developmentally disabled who now would be called autistic. Some of them had lead poisoning, so claims that mercury in vaccines can cause autism has some scientific basis. Some had had meningitis or viral meningitis.. Some just had a high fever, never had a spinal tap, but then started to deteriorate, probably mild viral encephalitis. Some had rubella in utero. Since measles encephalitis, mumps encepalitis and rubella in utero can cause autism, there may indeed be truth that MMR vaccine could cause autism. On the other hand, there is no proof, and the vaccine probably prevents thousands of kids from brain damage.
But the most common cause of autism was none of the above. It was Fragile X syndrome.
Probably the most common cause of mild retardation and autism in boys and men is Fragile X syndrome, but it doesn’t get half the publicity that the vaccine conspiracy theory gets manage to get, perhaps because it is genetic and has no treatment.. maybe because you can’t sue an evil drug company for it, and maybe because there is no prevention and
no treatment ….until now…maybe.
Let’s start with explaining what I am talking about.
If you see a young man, slightly retarded, with a long face, aggressive, who has autistic behavior (”Behavior is characterized by attention deficits, hand flapping, hand biting, and gaze aversion”), and who has an uncle who was retarded, he probably has Fragile X syndrome. link
Back when I worked with the retarded, the syndrome was new and hard to diagnose. The reason it is called “Fragile X” is because 1) it is carried on the mother’s X chromosone and 2) you don’t find it on routine chromosome analysis, but if you grew the DNA in a low folate environment, the chromosome tended to break, hence “fragile X”.
Back then, we started giving the men we thought had the syndrome large doses of Folic acid, but nothing happened, and soon this treatment disappeared just like many other treatments used to cure the retarded disappeared.
Like a lot of genetic syndromes, there are other problems associated with Fragile X patients, including neurological deterioration with aging. And like other genetic syndromes, some people have mild variations of the cases and probably go undiagnosed.
But now there are more sophisticated tests, and milder cases are being diagnosed.
But the big news of the day is this article on the BBC: Autism symptoms reversed in the lab.
US scientists created mice that showed symptoms of Fragile X Syndrome - a leading cause of mental retardation and autism in humans.They then reversed symptoms of the condition by inhibiting the action of an enzyme in the brain.
Essentially, by inhibiting an enzyme, the mice started acting more normally, and on autopsy the brain damage wasn’t there anymore. What is more important is that the treatment worked even on mice who were already showing signs of brain damage.
Whether this will eventually lead to a successful treatment in humans ten years down the line is unknown, but for those with autistic children who suffer from this syndrome, the report holds out hope.
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Nancy Reyes is a retired physician living in the Philippines. her website is Finest Kind Clinic and Fishmarket, and she writes medical essays to HeyDoc Xanga Blog
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16 users commented in " The X files: Autism’s fragile X syndrome "
Follow-up comment rss or Leave a Trackback“But the most common cause of autism was none of the above. It was Fragile X syndrome.”
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.
I find it interesting that many adult autistics have expressed the opinion that they think the vaccination preservative has little to do with the current numbers toted as the *autism epidemic*. Myself, I remain on the fence, it would seem that it is a mixture of environmental triggers and genetic predisposition, but that is only speculation and my own personal experience. I am adopted with no medical history, have two sons with Autism, when one son was being diagnosed we found that his behaviors matched mine as I was growing up. Back then, it was common to blame the mother (in my case my adopted mother), maybe refrigerator mother comes to mind, or blame it on separation due to the adoption. Wrong.
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.
yes but if you took everychild who has been diagnosed with autism and tested them for fragile x you would probably find that many of them do in fact have fragile x. the problem is that many people even doctors do not know about fragile x and overlook it when diagnosing autism. and i would also like to say you do not always have to have a retarded uncle in my family it was my granfather and he only had a 2nd grade education so everyone over looked it.
This is incorrect. Most children showing signs of a PDD (Pervasive Developmental Disorder) are automatically tested for Fragile X (in the US and Canada anyway). My autistic son was tested and was negative for Fragile X. Actually, Fragile X is not even part of the five disorders included under the PDD umbrella (Autism, Asperger, PDD-NOS, Rett Syndrome and Chilhood Desintigrative Disorder). Autism is not Fragile X, even though people with Fragile X display some of the behaviors common with PDDs.
im not saying that all would im saying a persentage would and no fragile x is not in the spectrum but it should be the problem is that not enough people know about it. and not all kids with autism are not tested for fragile x alot of doctors do not know about it. My son goes to our local childrens hospital a hospital were you would think people know about it and you would not beleive the amount of doctors whom i have to expain fragile x to.
“yes but if you took everychild who has been diagnosed with autism and tested them for fragile x you would probably find that many of them do in fact have fragile x.”
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).
do you beleive everything you read on google?
Diagnosis of autism is usually made by the age of 3.
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
here is a page taken from fraxa.com sence alot of people seem to lazy to do research i thought i would give it to you please pay close attention to the last 2 paragraphs
Symptoms
Cause
Diagnosis and Treatment
Learn More
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
Thanks for shedding light on the connection between Fragile X and autism. It gets me frustrated when I hear that they don’t know what causes autism. They do know what causes between 2% and 6% of all cases of autism and that is Fragile X. My son has both diagnoses.
“Diagnosis of autism is usually made by the age of 3.
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.”
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.
“do you beleive everything you read on google?”
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 (
My son was such recently diagnosed with Fragile X Syndrome, he’s almost 4 years old. He does not exhibit any Autistic behaviors, such as hand flapping, hand biting, poor eye contact - he actually has great eye contact. Can someone tell me what spectrum means? This all new to me so I’m learning all the lingo.
Yes, the lingo can get pretty confusing, but you’ll be using it in no time! The thing about learning a lot about your child’s condition and all the terminology, is that soon, you will be able to participate in discussion with your son’s doctors and therapists and you won’t feel like just an observant, but a participant. Knowledge is power!
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!
Bravo Robyn!
Bottom line is every child, male or female, who gets an Autism diagnosis should be given a blood test (Southern Blot DNA test) for Fragile X syndrome! I am sorry for the recent Benoit tragedy , by I am grateful for the much needed awareness for the Fragile X Community. This is not a “rare disorder” as mentioned in the media, it is the number one form of inherited (genetic) mental impairment in humans (male and female) and there is a carrier blood test (males and females can pass this on). There are therapies and drugs that offer treatment and many dedicated individuals are working toward a cure.
Melanie
I’ve learned so much by reading your comments! My daughter is 4 yers old and has not been diagnosed with anything yet, but i went to the doctor just b/c teachers tought she was not paying attention at lecture time. Dr. saw nothing wrong, but we decided to go on the safe side and today i received results for the rett syndrome and they tested negative. I am still waiting for the fragile x test results. I am so nervous, but i feel prepared for any outcome. I have read and gather as much info re the spectrum and i feel confident that whatever the outcome i will support and love her no matter what. I admire you guys that have children with type of disorder. You guys are strong!!!
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