Comments on: CNTNAP2, an Autism Susceptibility Gene

By: In Search of Another Hidden Hoard, Autistic Children with Mito?

In Search of Another Hidden Hoard, Autistic Children with Mito? — Mon, 28 Apr 2008 05:02:11 +0000

[...] to mercury. Concurrently, a number of studies offer further evidence about genetic of factors and autism. Also at the same time, proponents of the view that some external, environmental factor can be [...]

By: Children and Genetics

Children and Genetics — Wed, 30 Jan 2008 17:21:05 +0000

[...] it mean for families and relatives of autistic children to know that they might “carry” some of the genes that have so far been connected to autism? Tags: asd, asperger, autism, autism [...]

By: More on Autism Genetics and Genetic Testing

More on Autism Genetics and Genetic Testing — Mon, 21 Jan 2008 19:46:48 +0000

[...] about deletion and duplication of chromosome 16 in the New England Journal of Medicine and about CNTNAP2 as an autism susceptibility gene in the American Journal of Human Genetics. Speculating about genetic testing that might be developed [...]

By: Kristina Chew, PhD

Kristina Chew, PhD — Mon, 14 Jan 2008 04:46:10 +0000

From the January 14th Science Daily, some background about a link between CNTNAP2 and autism:

In March 2006, Dr. Stephan, Director of TGen's Neurogenomics Division, led a team of researchers at TGen and collaborators at the Clinic for Special Children (CSC) in Strasburg, PA, that identified a gene called CNTNAP2. When mutated, this gene indicated a predisposition to autism in a specific population of Old Order Amish children from Pennsylvania.

One of the most important principles in science is the ability to replicate results. Now, three groups of researchers from Yale University, the University of California, Los Angeles, and the Johns Hopkins University, have replicated the initial finding in the general population, unequivocally implicating this gene as causing the newly defined Type 1 autism. All three studies plus Dr. Stephan's commentary are published in the January edition of AJHG.

According to Dr. Erik Puffenberger, Laboratory Director of the Clinic for Special Children, "Our previous finding of association between loss of CNTNAP2 function and autistic behavior has been validated in the general population. This is a very exciting step for autism research. It also highlights the enormous potential of the 'small science' approach. Our initial work used only four affected Amish children. Careful study of these four patients uncovered the association between CNTNAP2 and autistic behaviors. From that small beginning, CNTNAP2 has now been implicated as a significant risk factor for autism."

By: b5’s Kids Health Notes and Autism Vox - CNTNAP2 implicated in autism

b5’s Kids Health Notes and Autism Vox - CNTNAP2 implicated in autism — Sat, 12 Jan 2008 08:28:47 +0000

[...] her article CNTNAP2, an autism susceptibility gene which I highly recommend, Kristina writes a personal account of her ongoing experience with her [...]

By: More on CNTNAP2, an Autism Susceptibility Gene, and Parent of Origin Bias

More on CNTNAP2, an Autism Susceptibility Gene, and Parent of Origin Bias — Sat, 12 Jan 2008 06:47:10 +0000

[...] (contactin-associated proteinlike 2) is a gene that indicates susceptibility for autism, as noted in a new study by Alarcón et al., in the January 10th American Journal of Human [...]

By: Emily

Emily — Sat, 12 Jan 2008 03:02:01 +0000

And I realize that not being around one’s children…especially one’s seizing children…was the “style at the time” for the upper crust. I think the portrayal of Mary is probably off…from what I’ve read, she had more genuine sympathy and love for John than people give her credit for. It reminds me of the Kennedy family, though, shuffling away the “embarrassing” offspring from public view.

His interest in plants reminds me of my son’s interests.

There was something with that child…the rapid growth, seizures, behavior, gardening…

By: Emily

Emily — Sat, 12 Jan 2008 02:56:34 +0000

He wasn’t actually that well loved by his parents, who generally kept him hidden and didn’t spend time with him or include him much in family portraits, and yes, he started having what they termed “epilepsy” when he was about four, but he also exhibited notable symptoms of being on the spectrum. He is widely reported now as having had autism or something like it, in addition to epilepsy.

By: Caroline L.

Caroline L. — Sat, 12 Jan 2008 02:16:22 +0000

Hi Emily,

I think you are referring to Prince John? This child was very loved and died young of epilepsy, which was his main dx.

Stephen Poliakoff directed a PBS drama, The Lost Prince, which is very worthwhile viewing. The scene where King George comes to fully appreciate his son, soon to die from a seizure at age 13, is splendid acting. The series does portray Prince John as having some Aspergers characteristics but from memoirs of contemporaries it does not appear that way.

By: Emily

Emily — Sat, 12 Jan 2008 01:34:30 +0000

I have a close friend who just yesterday told me that she’s learned that her husband probably has Asperger’s (something I’ve suspected for a long time). She says that it’s given her a new perspective on her interactions with him, and she’s changed her personal expectations in her dealings with him, which has helped her a lot with some frustrations she was experiencing within their marriage. Saber es poder, as we say in Spanish (knowledge is power). I almost shudder when I think of how frustrated and unhappy we and our children might be if we didn’t have a grasp of what makes them tick. My parents were *always* mystified by me and my circumstances at school; they just couldn’t *understand* why I couldn’t just behave like I was supposed to and do what I was supposed to do like everyone else.