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.

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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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