Comments on: Chromosome 16 and a Test for Autism?

By: olga farah

olga farah — Tue, 29 Apr 2008 14:50:04 +0000

I found this information most intriguing when I first read about it back in february 2008.
I wanted to check at this site today if there were any new findings between the autism findings reported back on january 9th, 2008 at the UK and cancer of the brain.
When I searched for chromosome 16 findings back then, I expected to see more info about autism…what I found instead was the connection of chromosome 16 to cancer. It made me rather sad…given that the day that this study about chr.16 and autism was published was the day that I buried my husband who died of brain cancer after a short 6 months awful ending to an exhuberant life…needless to say I have a daughter with autism and another son with a profound disability so neurological insults to inmune systems is a way of life in my home. Perhaps we need to do further studies to find out how many families with children with autism have primary family members with poor inmune systems and in many instances also who might be affected by cancer…..
respectfully
Olga S-Farah
Post Fellowship Graduate – Family Support/2007 CHLA/USC.UCEED

By: Children and Genetics

Children and Genetics — Wed, 30 Jan 2008 17:20:35 +0000

[...] Lei of Eye on DNA highlights articles that, in various ways, are relevant in thinking about a genetic test for autism: Waiving informed consent in newborn screening research; on the ethical implications of including [...]

By: More on Autism Genetics and Genetic Testing

More on Autism Genetics and Genetic Testing — Mon, 21 Jan 2008 19:25:08 +0000

[...] as an autism susceptibility gene in the American Journal of Human Genetics. Speculating about genetic testing that might be developed from these studies, writer Victoria Stagg Elliott notes that The challenge [...]

By: RAJ

RAJ — Sat, 19 Jan 2008 13:52:56 +0000

Microdeletions of chromosome 16P.11 is not an ‘autism’ gene. It has previously been reported in a host of neurological disorders, primarily mental retardation, but also in schizophrenia, ADHD, early onset epilepsy, and in people without any neuropsychiatric diagnosis.

The problem with the AGRE data is that they don’t segregate findings by IQ and cannot differentiate between a rare mental retardation syndrome and autism. Since AGRE only accepts families who members have an ASD diagnosis, they are looking at an unrepresentative population, only those who have enough ‘autistic type symptoms’ to qualify for a diagnosis. The AGRE dataset does not include the larger population of people with microscopic 16P11 anomolies who may have some ‘autistic type’ behaviors, but not enough to qualify for an ASD diagnosis.

The five (out of thousands) participants in AGRE who were found to have the microdeletion were also found to have a spontaneous mutation that was not found in the parent(s). The parents are unaffected thus this finding tends to relegate the entire concept of autism as 90% heritable and the broad autism phenotype as nothing more than meaningless psychobabble.

By: Phil Schwarz

Phil Schwarz — Sat, 19 Jan 2008 04:44:19 +0000

Judy Badner, a longtime member of Autism Network International, and for several years its science advisor, is a professor of psychiatry at my alma mater, the University of Chicago. She studies the genetic underpinnings of psychiatric conditions and disorders.

She has a personal background that involves a bit of the drama and controversy over discovery of genetic markers for various conditions, and their subsequent use and abuse: she has achondroplasia, a form of dwarfism.

In the mid-1990s, a single-gene marker for achondroplasia was discovered. This prompted the national self-advocacy organization of people with achondroplasia and other forms of dwarfism, the Little People of America, to issue a well-reasoned position statement on the use and abuse of genetic research and testing.

Several years ago, Judy adapted the LPA’s position statement for research into the genetics of autism, and applications of that research. It is equally well-reasoned.

It can be found here.

By: Morgan

Morgan — Sat, 19 Jan 2008 04:29:12 +0000

We did pre-conception genetic testing for cystic fibrosis.

There is a huge difference between an almost certainly fatal genetic condition and autism, but I don’t regard our precaution as “goosesteping eugenics” — so how should I judge people who approach a genetic predisposition to autism with the same care?

I abhor the thought of aborting fetally diagnosed autistics, but . . . is there a sensible place to draw the ethical line?

I wonder. . . .

Morgan

By: Kristina Chew, PhD

Kristina Chew, PhD — Sat, 19 Jan 2008 03:43:49 +0000

The mention in the article of people contacting the hospital to find out if there is a test based on the NEJM study stood out to me. I’m not sure they are aware of the implications of such a test—-the “goosestepping eugenics” VAB points out.

By: VAB

VAB — Sat, 19 Jan 2008 03:28:55 +0000

I don’t know if early intervention justifies it. If it’s not something you can notice without testing, early intervention may be overkill. Not everyone on the spectrum needs any “intervention” at all. If it is something that is clear early on, then the tests may be superfluous, especially if, as is currently the case, they are inconclusive. As for the in utero stuff — give me a break, with the goosestepping eugenics.

By: chrisd

chrisd — Sat, 19 Jan 2008 01:51:37 +0000

I suppose it would have prepared us somewhat for what we would be expecting. But will it freak people out who don’t need to be?