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Aura
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05 Apr 2014, 6:21 pm

Looking for information pertaining to genetic testing. Am hoping to hear replies that go deeper than genetics on a whole, and perhaps someone could share some ideas of looking deeper into genetics that assisted them or others to get to the bottom of a diagnosis.

The current situation is with regard to my 10 year old son. The family does have other factors of conditions that make this complex. Will try to be brief.

My GP is an extremely thorough doctor who believes my son is on the spectrum. He is perplexed and confused as to why Pediatricians and others can not see what he does. My son is extremely school refusal, has almost all the symptoms, except from my research it appears he is falling into a high function category. He is intelligent and has developed coping strategies that mask his issues in a public atmosphere. He has his melt downs at home when things have to face change the list is all present.
His school believes there is nothing wrong with him.

History in the family is older brother (26) diagnosed at 14 with ADHD. As an adult he does fit nicely into AS. Sister (21) has been diagnosed with Epilepsy at age 10 by EEG. There is not an absolute to which type of Epilepsy she has. She fits nicely into Parital Complex Seizures, and also has Grandmal/Petit Mal. Mom fits nicely into AS (and without diagnosis of AS she feels this has a good description to her person). Mom also has a diagnosis of seizures of unknown. However, these fit almost exact to the daughter. All members are intelligent, above norm. Not genius, but perhaps gifted. Yet, function below expectations of acknowledged intelligence.

GP is willing to move fw with genetics, it is not his field and will do what ever he can to have the 10 year old acknowledged.

Teachers have noticed some episodic "stares" from this boy, but EEG's are normal.
Family lives in Canada. Is seeking any suggestions as to seek other alternatives other than what is available in public health system.

Look forward to hearing from anyone with any suggestion. The more the better.

Thank you.

Aura



cathylynn
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05 Apr 2014, 6:29 pm

I don't think there is a genetic test for autism yet.



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05 Apr 2014, 6:52 pm

There are no known genetic test for Autism, and no known genes strongly associated with Autism.



Willard
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05 Apr 2014, 6:57 pm

Last I heard, there has never been a specific site or sites on the genome identified as directly related to autism, though the assumption seems to be that it will eventually turn out to be several different genetic influences that come together in confluence to create the condition. I don't think there's much doubt that it tends to recur along family bloodlines, though it's not always passed down directly.

Personally, I'm in no hurry, I don't believe there will ever be a "magic bullet" cure (though there may be some Big Pharma Neurotoxin treatment with a laundry list of side effects), but I am concerned that if they come up with an in utero test for the likelihood of autism, it will only lead to millions of babies being aborted out of fear.



neobluex
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05 Apr 2014, 6:58 pm

Some months ago there was an article about a genetic test under development.

Some genetic testing is used, specially if a child has mental retardation or a family history of fragile X syndrome.



daydreamer84
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05 Apr 2014, 7:08 pm

There are some genes that have been identified as being associated with autism but only in a small percentage of people and they each only contribute a small amount to the disorder. Many genes are thought to contribute to autism and some environmental factors too (though the genes contribute more). To make it even more complicated there may be different combinations of genes leading to the same disorder in different people, there may be a few or many different types of autism genetically, so to speak.We're very far from knowing what all those genes are and no where near having a genetic test to diagnose autism but there's always research going on toward that end.



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05 Apr 2014, 8:44 pm

daydreamer84 wrote:
There are some genes that have been identified as being associated with autism but only in a small percentage of people and they each only contribute a small amount to the disorder. Many genes are thought to contribute to autism and some environmental factors too (though the genes contribute more). To make it even more complicated there may be different combinations of genes leading to the same disorder in different people, there may be a few or many different types of autism genetically, so to speak.We're very far from knowing what all those genes are and no where near having a genetic test to diagnose autism but there's always research going on toward that end.


Actually some of the latest research shows environmental factors may contribute as much if not more than genes, and their are no known genes besides from ones that also cause are serious conditions such as Rett Syndrome, Fragile X, and Neurofibromatosis that are known to cause an significant increase in Autism. There are also no known combination of genes that are shown to cause any sigificant increse in autism that don't also cause other major deleterious conditions.



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05 Apr 2014, 8:46 pm

That being said like I said in the prior post their are some serious genetic disorders strongly associated with Autism, including Retts, Fragile X, and RASopathies such as NF1. Anyone with these conditions should be evaluated to see if they fall into Autism Spectrum.

These all have something big in common they are all rare conditions, and represent a tiny portion of people on the spectrum.



yournamehere
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05 Apr 2014, 9:11 pm

Those little dna fragments or whatever are in the billions. There is no program, or person that can break it down enough to make sence of it. Only large groups of it, that is not enough to make a definate determination. this stuff you are talking about is way too complex for that right now. It is hereditary for the most part im sure.