Comments on: More on Autism Genetics and Genetic Testing

By: Autism genetics in the news « ASDinfo

Autism genetics in the news « ASDinfo — Mon, 18 Feb 2008 21:47:22 +0000

[...] I have seen many references to this subject matter recently in some ASD blogs that I frequent. Some of those articles can be found here and here . [...]

By: RAJ

RAJ — Wed, 23 Jan 2008 18:58:50 +0000

The chromosome 16 study is an example of the dichotomy between the environmentalists and genetic evangelists. They are a lot like Republicans and Democrats screeching at each other about how right they are and how wrong the other side is and nothing gets accomplished.

The study actually supports the gene – environment interaction model of autism,but the genetic theorists who produced the article never discussed the problem of what causes genetic mutations in man.

The recent publication in the New England Journal of Medicine linking damaged chromosome 16P to autism and and other developmental disorders is a perfect example. The finding was that in the majority of cases it was a de novo mutation, a spontaneous mutation found in the autistic person but not in the parents. In a small minority the mutation was also found in the parent(s) who presumably passed the abnormality on to their children.

It has been well documented for decades that pregnant women who are exposed to X-rays either through medical procedures or in the workplace are at risk for producing children who may be genetically damaged.

http://www.healthgoods.com/education…_pregnancy.htm

Scientists also have found that vast regions of chromosome 16 are at greater risk for mutations after irradiation exposure than any other chromosome.

http://content.karger.com/ProdukteDB….asp?Doi=81522

By: gretchen

gretchen — Tue, 22 Jan 2008 15:42:56 +0000

Henry’s genes were mapped (if that is the correct term) at the time he was diagnosed with PDD-NOS, 3 years ago. An oddity was found, but seemed to indicate nothing. The hospital wanted me to follow up with the geneticist, but I just never did. At the time I didn’t see how pursuing this (and putting my unhappy child through even more appointments that were not relevant to his speech or behavior) would benefit my child.

Now, with all this in the news, I need to pull out those old results and maybe make the appointment after all. Just to see…

By: Kristina Chew, PhD

Kristina Chew, PhD — Tue, 22 Jan 2008 00:22:26 +0000

Quoting Myers—

“I suspect that the more specific and common phenotypic aspect of 16p11.2 microdeletions or microduplications is intellectual disability.”

Perhaps what will be said to be a genetic marker (or not) for autism might rest on how we define terms (many of them).

By: ASDinfo » Blog Archive » Canadian Family gets genetic information about sons ASD

Mon, 21 Jan 2008 23:52:38 +0000

[...] I have seen many references to this subject matter recently in some ASD blogs that I frequent. Some of those articles can be found here and here . [...]

By: Regan

Regan — Mon, 21 Jan 2008 23:32:50 +0000

“A more recent study of CNSTAP2 abnormalities was examined using only a large sample of high functioning people (IQ > 70) ASD people eliminating the confounding variable of mental retardation with ‘autistic’ features. The study failed to find any evidence of CNSTAP2 defects in high functioning people who have an ASD diagnosis.”
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Citation or author(s)?

By: RAJ

RAJ — Mon, 21 Jan 2008 22:42:46 +0000

Neither 16P11 micro deletions/additions nor CNTNP2 are autism genes. Those findings have been previously found in a number of neuropsychiatric syndromes with the most common finding being mental retardation and early onset seizures, as is the case for Fragile X. They are both genetic mental retardation syndromes.

These mental retardation syndromes all have a subset of people that meet diagnostic criteria for ASD based on the expanded criteria which are vague, ambiguous and subjective. The AGRE data base produces false assumptions and invalid conclusions because those with access to AGRE see only the minority who qualify for the ASD daignosis, they do not see the majority who have other neurpsychiatric conditions, but do not have enough ‘autistic’ behaviors to qualify for and ASD diagnosis.

The myth of the autism explosion is also found in the genetic mental retardation syndromes. A more recent study of CNSTAP2 abnormalities was examined using only a large sample of high functioning people (IQ > 70) ASD people eliminating the confounding variable of mental retardation with ‘autistic’ features. The study failed to find any evidence of CNSTAP2 defects in high functioning people who have an ASD diagnosis.