Research

New Genetic Link Tied to Autism

One of our biggest worry as parents is “WHY” our children have fallen on the spectrum. What caused something to happen to our child? Was it genetics, vaccinations, or could it have been something environmental?

Well, scientists at UCLA have recently published their findings that links a specific genetic variant to the disorder. The test focused on the speech delay of children, as the most common early symptom Autism is the lack of speech.

UCLA scientists have used language onset the age when a child speaks his first word as a tool for identifying a new gene linked to autism. The team also discovered that the gene is most active in brain regions involved with language and thought. Interestingly, evidence for the genetic link came from the DNA of families with autistic boys, not those with autistic girls.

Their findings have suggested that this gene, called contactin-associated protein-like 2 (CNTNAP2), likely plays a “key role in the development of autism.” They also found that the gene was most prevalent in families with autistic boys.

“Autism strikes boys three times as often as girls,” said Maricela Alarcon, first author and UCLA assistant professor in residence of neurology. “This finding may partly explain why.”

I’m very excited by this research, and will be following it closely. I highly suggest that you read through the entire article, which was written by UCLA Health Services.

Visit to the Neurologist

Neurologist Appointment - BrainKrystal and I have been evaluating Colton’s progress, and going through everything that we’ve done thus far to help him. One of the evaluations that we hadn’t looked into was a visit to the Neurologist. It’s been a nagging issue for us, since Colton had what were diagnosed as “febrile seizures” when he was two. We have always questioned the diagnoses, because at the time of the first episode Colton did not have a fever of any kind (which is the definition of febrile). But, the doctors were insistent that this was a classic case of the very common seizures. So, we stopped there and focused on the future.

Well, last week we finally had an evaluation done by a neurologist at the Noran Neurological Clinic in Minneapolis. The doctor had one very important question for us: “What do you expect to get out of having me evaluate your son’s brain?”

We actually went to this appointment not knowing what a Neurologist could tell us, so we were happy that he was going to schedule some tests that may help us pinpoint some differences in Colton’s brain. We scheduled appointments for both an EEG and an MRI.

The EEG was performed last Friday, and I just received a call that everything is normal. Great news! One test down, and one more to go! :)

Have any of you had these tests done for your children? I’d love to hear about your experiences, especially if the results helped you gain any insight into your children’s situation.

Possible Link Between Autism and Pesticides

Autism Possibly Linked to PesticidesEDIT: After doing some additional research on this subject, it seems that the correlation between the pesticides and autism is pretty weak. If you’d like to read a great post by a skeptic, AutismDiva, click here. She gets into the fine details of the study, and even has a link to the paper itself.

When people ask me what I think is causing the sudden increase of Autism in our country, and I tell them that if I had to take a guess, Autism is increasing because of some kind of environmental factors that we’re exposing ourselves to. The cases are just so random and unbiased, and the numbers continue rising so much, that it’s hard for me to think that it could be anything else.

I just read this short article from NBC San Diego, stating the following:

Researchers for the California Department of Public Health say two pesticides used on cotton and some other crops may be linked to autism.

Apparently the researchers studied a group of women who lived near fields that were sprayed with pesticides, and their results were pretty scary. Obviously it’s not conclusive by any means, but hopefully it will help motivate further research.

NBC San Diego: “Study Finds Possible Link Between Pesticides, Autism”

Diagnosed with Autism, Now What?

As far as I can tell, every parent who has just heard the diagnoses of their child goes through the following stages: