Missing Protein in Fragile X Affects Neuron Signaling
June 14, 2008 by Kristina Chew, PhD
Filed under Health
About one-third of those with Fragile X also have autism. My son was tested for Fragile X around the time that he was being evaluated for autism, and Charlie does not have Fragile X (go here to read about a new gene that was found for Fragile X earlier this year). A recent study in Developmental Cell has found that those with Fragile X lack a protein that is crucial for the signaling between the nucleus of neurons and the synapse; this protein is essential for brain development, memory, and learning. More in today’s Science Daily and more about the synapse and autism here.
Dr. Randi Hagerman (Fragile X expert) said at the IACC meeting in Sacramento that she thought the drug treatments they are trying out on Frag X could help some autistic people with the same kind of neuronal connection problems that are found in Frag X(or thought to be found in, I don’t know how sure they are).
I haven’t tried to figure out what she was talking about as far as applying findings regarding Frag X in non-Frag X autism. But I mentioned in one of my public comments that one of my friends who is being tested for Frag X may end up in Dr. Hagerman’s drug trial.
(sarcasm) Which of course can’t be true. I can’t be recommending that a friend with possible Frag X enter a drug trial for treating the underlying “biomedical” neuronal problems of Frag X because I am anti-therapy. Just ask Lenny Schafer (who as there) or any of the bizarros at the clown blog (AoA). (/sarcasm)
I don’t think the therapies they are considering for Frag X are unreasonable or dangerous, so far as what I can see so far. I don’t know if the same treatments would be dangerous for autistic people who don’t have Frag X.
Another interesting thing is that over a year ago when the Hagermans started looking at this drug I asked them (in person) if they were already enrolling Frag X children in their trial and they looked at me like I was insane. Of COURSE they weren’t enrolling CHILDREN, they had to try out the drug on adults first.
The fact is that all treatments are supposed to be tried out on adults first (by the rules that IRBs are supposed to be following) and children last because children are more delicate. It’s only in autism where some thieving quack or other parent gets an idea for a drug experiment and everyone rushes to try it out, even on infants, and automatically on small children.
It’s only in autism where some thieving quack or other parent gets an idea for a drug experiment and everyone rushes to try it out, even on infants, and automatically on small children.
That’s because there are few adults with autism since this all is caused by the added immunizations. (sarcasm
The neurologist with saw for Ryan wanted to test him for fragile X. It was a pain to try to get the blood work done (we could only go to one clinic that did not have appointments) so we never got it done. I am pretty sure he doesn’t have fragile X.
The Fragile X test was one of the first ones my kids had once they were dx on the spectrum. They said something about big ears being a sign of it at the time.
thanks for that background, Ms. Clark (no sarcasm or clowning around meant….)
I am looking forward to the day when the real autism will stand up, please!
Right now, it has become an umbrella label for any atypical behaviour or brain function, hence the confusion with the recent vaccine trials’ payout for an underlying mitochondrial disorder that was just conveniently labelled as autism. The same for brain injury, which may result in autism-like behaviours: but it is not autism. It just mimicks the way the autistic brain would form alternative neuropaths. Same thing with Fragile X: perhaps it is a totally different “thing” that just results in autistic like behaviour? May I even be controversial and say, perhaps our nemesis, Jenny McCarthy, is right in saying her child does not have autism but is, in fact, suffering from heavy metal poisoning. In which case she should get off the autism pedestal as soon as possible, as she is no advocate for the “real autism”. Truth is, right now the only criteria for an autism diagnosis is behaviour, and the autists are all in agreement that if one thing is certain, it is that every autist’s behaviour is different. I wonder whether the “real” autism isn’t just a simple combination of intense sensory sensitivities combined with a (very much free will, chosen) atypical development order, deeply embedded in the genes and the healthy brain of an autistic individual. Once we can start drawing these lines, perhaps it would also become easier to give the right support, living environments and education to every individual.
This article on Fragile X, and familial gene expression just came out in Time magazine,
Time 6/26/08
The Fragile X Factor
“Ten years ago, no one would have connected Max’s autism and other symptoms with Gary’s neurological decline or Cari’s premature signs of menopause. …”
http://www.time.com/time/magazine/article/0,9171,1818268,00.html