Thursday, January 10, 2008

CNTNAP2 Gene And The Unravelling Of Autism Spectrum Disorders


If anyone doubted that we are living in the era of the Autism Knowledge Revolution they should doubt no longer. The January 10 2008 edition of the American Journal of Human Genetics includes reports of three studies which separately validate the March 2006 study led by Dr. Dietrich A. Stephan, that identified a gene called CNTNAP2 which, when mutated, suggested a predisposition to autism. In Unravelling Autism Dr. Stephan comments on the three studies and states:

In this issue of AJHG, Alarcón et al.,1 Arking et al.,2 and Bakkaloglu et al.3 identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population. ...... The modern technologies and strategies derived from the Human Genome Project, coupled with the elegant sample banking, phenotyping, and data dissemination resources of groups like AGRE, are resulting, finally, in the unraveling of Autism Spectrum Disorder.

Dr. Stephan offers characteristics of Type 1 autism which many parents will recognize in their autistic children:

The three studies herein1, 2, 3 have moderate sample overlap and use different strategies to narrow the phenotype of the ASD cohorts to relative homogeneity before performing genotyping/resequencing across the CNTNAP2 gene locus. Nevertheless, the three studies together identify a set of common and rare variants that provide unequivocal evidence that the CNTNAP2 gene, when disrupted, leads to a subtype of ASD. This genetic subtype can be clinically characterized by ADOS/ADI-R-defined autism with language deficits and potential gender bias and parent-of-origin effects. Type 1 autism may also be associated with seizures.

The gender bias referred to by Dr. Stephan is the male gender bias associated with autism which sees from 3 to 1 to 4 to 1 male to female ratios amongst persons with autism. On the practical side Dr. Stephan indicates that the CNTNAP2 information might be of assistance in early detection and intervention in the 12 to 24 month period.

3 comments:

Robert Montgomery said...

There's one serious flaw to Jonathan's argument. Not many special education opportunities were available in the 1960's. I think Jonathan needs to change his story. The majority of students with recognized disabilities, and I would presume feces smearing would have been considered a disability even in the 1960's, were in segregated institutions. The IDEA wasn't passed into law until Jonathan would have been 22 years of age. Nice try though Jonathan.

This is from the Georgetown University Press:

As the United States entered the 1960s, American public schools faced challenges in several areas. Discussions regarding social and economic inequality led to intense national soul-searching, with the sweeping implications of the Supreme Court’s 1954 Brown vs. Board of Education of Topeka decision affecting developments in law, politics, social policy, and certainly education. The federal government under President John F. Kennedy determined that much greater involvement on its part was necessary to stimulate action and ensure the enforcement of law, the protection of civil rights for all Americans, and the fulfillment of the promise of public schooling. Among educational professionals, questions about the rigor and direction of curriculum and instruction dominated educational discourse after the launch of the Sputnik satellite by the Soviet Union in 1957, leading to reform efforts in the teaching of most subject areas, science and mathematics. As deliberations about the appropriate purposes, character, and methodology of education intensified, special education found itself linked, directly and indirectly, to changes in the teaching of content and subject matter, the organization and structuring of schools, and the classification and categorization of students.

From 1960 through 1968, special education would continue its dramatic evolution, encountering significant challenges to its assumptions, structures, and operations. It maintained its remarkable expansion in terms of its number of programs offered and students served, even while special educators constantly maintained that an unacceptably low percentage of students who needed special education services were actually receiving them. The introduction and solidification of learning disabilities as a recognized category of disability rearranged and expanded the identified population of children with disabilities; the linking of disability with poverty, cultural deprivation, and minority status substantially altered views on the etiology and diagnosis of disability, especially in the area of mental retardation, shifting the ways in which discussions of special education services and purposes were framed. The number of people with disabilities housed in residential institutions kept increasing, leading to severely overcrowded conditions and serious charges that care and treatment of the residents all too frequently was cruel and inhumane. Such developments took place in the context of rapidly expanding federal involvement as well as heated debate about the propriety of segregated schools and settings, including those for students with disabilities.

Harold, really, a cursory knowledge of the disability movement in the US would have tipped you off that this man could have never spent 8 years in special education.

But like John Best, your not really interested in facts and I my guess would be that this comment too will never be posted on your website. That's ok, because I'm taking screen shots of them to show the world that your a dishonest person not interested in truth.

I'm sure you think your clever because you found a "house" autistic who supports your hatred of autism and autistic people who disagree with you. But sadly, like most house autistics, they lie about their past.

Autism Reality NB said...

Robert you posted your comment on the wrong story.

As for Jonathon Mitchell you are grabbing at straws. The fact is you don't actually know the gentleman's education history you are speculating to fit your own prejudices and ideological views.

You also fail to address the substantive elements of Mr Mitchell's comments - at all.

Your allusion to "house" autistics is an attempt to steal from the history of racial groups who have suffered much in their history. I have an autistic son living in my actual house. He shares none of the characteristics of the people whose credentials you support without examination. They have no right to speak for my son and pass off their ideology as being the views of all autistics.

I have also worked with high functioning autistics, persons diagnosed at much earlier ages than some of the celebrity ND autistics, who supported the efforts of parents in our area to obtain treatment for out children. ND is not a human rights group and not a group representative of the autism SPECTRUM, particularly the lower functioning autistic persons whose existence they rarely acknowledge.

Save the ND rhetoric for someone who hasn't read it before and for those who have no actual knowledge of autism. Having a son with Autism Disorder I don't buy the shallow rhetoric of ND.

jonathan said...

I addressed Mr. Montgomery's post in the correct place, I would like to add a link to the special education school I attended in the early 1960's saying that they were first established in 1948 in order to refute Montgomery's argument
http://www.dubnoffcenter.org/index.php?customernumber=2737815038772&pr=Our_History
jon mitchell