Better Genetic Test for Autism?

[n2doc]

ScienceDaily (Mar. 15, 2010) — A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests.

Publishing in the April issue of Pediatrics (and online March 15), the authors urge that CMA become part of the first-line genetic work-up for ASDs.

Expectant parents who have family members with ASDs, as well as families who already have an affected child, often request genetic testing. However, there is still only limited knowledge about actual causative genes. The currently recommended tests (karyotyping to look for chromosomal abnormalities and testing for Fragile X, the single largest known genetic cause of ASDs) often come up negative. Chromosomal microarray analysis (CMA) is a genome-wide assay that examines the chromosomes for tiny, sub-microscopic deletions or duplications of DNA sequences, known as copy-number variants.

CMA offers about 100-fold greater resolution than standard karyotyping. However, since it is new, it is often considered a second-tier test. Depending on where a person lives, or what insurance they have, CMA may not be covered by health insurance. "Based on our findings, CMA should be considered as part of the initial clinical diagnostic evaluation of patients with ASDs," says Bai-Lin Wu, PhD, Director of Children's DNA Diagnostic Lab in the Department of Laboratory Medicine, which has offered CMA to families since 2006.

more

http://www.sciencedaily.com/releases/2010/03/100315091255.htm

[pnwmom]

1. Tests still only identify fewer than 10% of people with autism.

No doubt because most autism results from a combination of factors.

[HysteryDiagnosis]

6. I'd be happy to hear if they can determine exactly what those genes

are responsible for, things such as MT malformation, enzyme dysfunction, cell surface glycation, digestive influences and so forth. Then we could better understand the improvements "some" have seen with certain interventions. Please note there was no mention of chelation therapy nor will there be.

[willing dwarf]

2. Better to assess environmental risk lode?

I'm not a scientist, and I know that there's a whole industry developing around genetic testing, but the environmental causes of this extreme rise in autism ought to be the priority it seems to me.

[activa8tr]

10. Much of the "extreme rise" is accounted for by more precise

testing, and greater availability of early precise diagnostics. If you are familiar with the literature, you will know that many children with Autism, or any of the varieties along the Autism spectrum were either MISSED or mis-diagnosed previously.

Many with severe forms were mis-diagnosed with retardation, deafness, etc.

http://autismdiva.blogspot.com/2005/03/where-are-these-1-in-166-autistics.html

"The increasing diagnosis of autism may be being accompanied by a decrease of other diagnoses, and it may be just that more people know what autism looks like now.
The largest part of the increase in autism among the California DDS numbers is in high functioning autistics, though the calamity howlers would have you believe that we have low functioning autistics coming out of our collective pores."


more at the link

[mzteris]

3. the only thing I worry about -

this world NEEDS it's Aspies!

[Warpy]

4. Yeah, that occurred to me, too

MIT was Aspie Central. I loved dealing with them because they loved explaining what they were working on and it was always fascinating. Aspies continued my engineering education on the cheap.

I don't care that they don't pick up on emotional cues. I'm perfectly happy to tell them what's going on.

A world without Aspies would be a dull one and human progress would be plodding.

[mzteris]

5. A world without Aspies would be a world

without Genuis!

[pnwmom]

8. And a world with only Aspies would be a world

with little empathy.

[Odin2005]

15. "Aspies have no Empathy" = BS junk science.

That notion is based on bad assumptions involving "theory of mind" as well as mixing up empathy with non-verbal communication.

[pnwmom]

7. There is a big difference between a person with Aspergers and severe autism.

Few who have coped with a child with severe autism have a very romantic idea about the condition.

[mzteris]

11. oh certainly -

I do know people whose children are severely autistic.

But, I'm just afraid that people will choose not to have any child on that spectrum and thus deprive the world of some pretty wonderful human beings!

[Odin2005]

16. Just like there is a big difference between a genius-level NT and a mentally retarded NT

[Odin2005]

17. A world without aspies would be a gossip-dominated world where nothing gets done.

[laconicsax]

9. Nope, it's vaccines. Jenny McCarthy said so.

It's thimerosal in vaccines! I can't hear you! I can't hear you! LA LA LA LA LA LA LA LA LA! It's thimerosal in vaccines!

[pnwmom]

12. More than 90% are still unaccounted for.

That leaves a lot of questions unanswered.

[laconicsax]

13. At least one of the questions answered (repeatedly) is whether or not it's vaccines.

The answer has continually been a resounding no.

[pnwmom]

14. Not true. Hannah Poling's case is a notable exception and there may be others,

besides those with mitochondrial disorders, who are especially vulnerable to particular vaccines or the combination of them.