Genes Connected to Autism Active During Fetal Development (xpost from GD)

[KamaAina]

http://www.iflscience.com/brain/genes-connected-autism-active-during-fetal-development

Autism Spectrum Disorder (ASD) affects about 1 in 68 children. Genetics plays a large role in the onset of ASD, but the exact genes involved are not clearly defined. However, a new paper published in Neuron describes how specific genes known to be connected to ASD are active during fetal brain development. Lilia Iakoucheva of the University of California, San Diego headed up the research.

The study focused on copy number variants (CNVs) in particular regions that have previously been connected to ASD. However, the researchers soon learned that not all CNVs were activated during the same growth period. Activation of various CNVs was staggered throughout fetal development....

Using zebrafish (a common model organism in genetics), they found that certain mutations on CUL3 adversely affected KCTD13, which, in turn, affected the normal function of RhoA. Just as the zebrafish with these mutations had head sizes that differed from typical development, so do children with ASD. Additionally, the mutations also correlated to the weight of the fish, just as it does in humans.

Moving forward, it is hoped that obtaining a better understanding of these genetic pathways and how they connect to various disorders on the Autism spectrum will allow researhers (sic) to manipulate these pathways into a potential treatment.

Not discussed here is our worst nightmare, a prenatal test like that used for Down's, where the experience has been that many, many women who test positive choose abortion.

http://www.democraticunderground.com/10026148858

[Demeter]

1. KamaAina, I understand where you are coming from

but you must have some compassion for the mothers and their families, whose lives are basically destroyed while caring for a severely disabled child (that is, a child not able to live an independent, adult existence with safety, work, friends, etc.) and worrying about that child even after the parents are dead. THAT is the worst nightmare, not the termination of a pregnancy.

It doesn't improve the human species or any species, to have a large and growing population that will not be able to survive without heroic efforts. There aren't that many heroes to go around.

NO one is advocating the Nazi solution. It is far more likely that genetic counseling will be the only necessary step, sufficient to ensure the best result for all.

It is even looking promising that genetic therapy will rapidly advance to correct fetal development in the pregnancy.

Even if only a screening is possible, I cannot condemn or look down upon a family that chooses to decline to "volunteer" for a crushing, life-long guardianship before a baby is produced.

After all, abuse and neglect and exploitation are much more horrific and all too common for the children that deviate to the socially less desirable side of "normal".

[KamaAina]

2. "a crushing, life-long guardianship"?

This post comes to you from a cube farm in San Jose, California. If Mom read DU, she would be doing so either from NYC or the Jersey Shore. I have not lived with her since shortly after I graduated college (Yale, BTW ), save for a brief spell in my late 20s, or as she would put it, my "Saturn return" period.

[Demeter]

3. Yep. Crushing, lifelong guardianship

My daughter is 31. She hasn't got the chance of independently living. She would be dead in a week, either by her own actions or by someone taking advantage of her. She has no sense of danger, no safety skills. She cannot use a stove or a knife safely, and frequently cuts holes in clothing and bedding with scissors.

She isn't going to graduate from college--she was only permitted a "certificate of completion" from high school, from a system which totally neglected her academics after 8th grade.

While the family as a whole has been doing whatever we can, we will NEVER, EVER be able to release her into the wild, so to speak.

[KamaAina]

4. I see by your profile you're in A2

I have several friends there. A2 happens to have one of the oldest independent living centers in the country. You might look into seeing if they could help her out with attendant services, etc. Believe it or not, there's another Autistic guy in my 8-unit building (!); that's how he manages.

http://www.annarborcil.org/

[Demeter]

5. We utilize AACIL, and get every available service/resource in the state/county/fed

When I moved us out of NH (there's NOTHING in NH) I did research specifically for dealing with AI needs.

AACIL is more oriented to the physically handicapped. They have some social activities that work for my daughter. Her interests are so limited...

But the Adult Foster Care system here is an appalling nightmare, an accident waiting to happen. My daughter is too impaired to survive it. The State found that out the hard way.

Not even 1% of the AI population falls into the Temple Grandin category. You are blessed to be able to make it. And the world is so much worse than it was when I was 30...even we neuro-typicals are suffering.

[KamaAina]

6. What is AI?

I assume you don't mean artificial intelligence.

And props for using the word "neurotypical" in a sentence! I have been credited with coining the term on occasion, incorrectly.

[Demeter]

7. Autistically Impaired

[KamaAina]

8. Never heard that one before.

[SheilaT]

9. When my oldest son was about three and a half

he went totally bald, from a condition called alopecia areata, an auto-immune disorder that causes hair loss. At that same time, I became pregnant again. My mother asked me if I was sure I'd want to have another baby. What if the second child also went bald?

I was a bit offended, because I could tell that going bald was not the worst possible thing that could possibly happen to my child. Fast forward about ten years, and the second kid also went totally bald from alopecia.

Go forward a couple more years, and my very quirky oldest son was finally diagnosed as having Asperger's Syndrome. Asperger's, at least as my son has it, isn't all that hard to live with. I cannot begin to imagine having a severely disabled child myself. In fact, I often am very grateful that I don't have a severely disabled child.

I think anyone who wants to take advantage of prenatal testing should be able to do so, and the final decision about what to do needs to be up to the woman. Period. Several states are no introducing bills to forbid late term abortions, or ones to abort a Down Syndrome fetus. That's beyond despicable. If they included funding to fully support handicapped and disabled children, it would be one thing, but they're just piously saying: You must have the baby and after that, you're on your own.

I happen to know a couple of people with a Down Syndrome child. One is an only child, now a young adult, the other is the oldest of three children. Both situations have turned out quite well, at least in part because both children are rather high functioning. I know at least one person who told me that when their unborn child was diagnosed with Down's, they had an abortion. Their choice. Pure and simple.

[KamaAina]

10. It is indeed despicable when the anti's use us as political footballs.

http://www.democraticunderground.com/10026249400#post9