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RECENT GENETIC RESEARCH and RELEVANCE TO ABA

ATAC'S OBSERVATIONS UPON RESEARCH BREAKTHROUGH IN THE GENETICS OF AUTISM



1.The research gives us a better understanding of autism being a spectrum of many different but related disorders. Only about 20% of the genes involved have been identified, with many more to be tracked down, and it is already clear that autism will express itself differently where different genes are involved. This explains the wide divergences in the spectrum, and is the reasons why each affected person preservable.

2.The nature of these genes is that they are autosomnal recessive � that is in, both parents must carry the gene, but that for a child to become autistic, the child must inherit both recessive genes. This explains why not all children in a family are affected. The research also finds that each affected family can have a different expression of autism, depending on exactly which genes are involved.

3. Nearly all the genes involved are those associated with early learning, and the way this early learning in the first year or two of life shapes the development of the brain in the areas of communication and social development. These genes, in other words, are those involved in experience based education. Furthermore, it is the on/off switch for these genes that is affected, with the gene itself present on the chromosome, but inert and not functioning.

4.The cause of autism can be a combination of genes that express differently, depending on the nature of each gene inherited from the parents. However, no matter the way in which autism is expressed, it is overwhelmingly caused by the same problem, that is, the inability to 'switch on' the gene. In other words, the faulty switching mechanism that lies on the chromosome does not trigger the gene, and normal development of the brain does not occur. This understanding completely undermines the theory that because autism is expressed so differently, different therapies need to be used to address the variation found on the spectrum. Rather, it validates the use of intensive behavioural therapy [ABA] because this therapy is an alternate way in which the synapses affected by the genetic fault can be stimulated. In other words, intensive behavioural therapy creates new pathways by activating the synapses, and bypassing the inert, dormant on/off switches lying on the chromosome. Furthermore, through the standardised testing and frequent periodic re-testing of each individual receiving therapy via reputable programmes, ABA is able to pin point those areas where stimulation is needed.

5.The research found that one gene had itself mutated, viz the gene that associates autism and seizures. It also posits total deletion and partial deletion of other genes that are connected with autism. In these areas, the research states that future gene therapy will be the only answer to cure autism.

6. This recent research throws new light upon the original research of Lovaas which was reported in 1987, and since replicated by many others, which shows that ABA through its programmes can get approximately 47% of autistic children to the stage where they are indistinguishable from other children in school, that it can get another 40% to make significant advances, while only about 10% make little progress. Those who progress furthest will be those who have no mutated or deleted genes. It further appears to us that all who make only significant progress will be those who have some deleted or mutated genes, but many other genes, because of the complexity of each individual case, that can be switched on through therapy. It is the other 10% who will need gene therapy.

7. The future for people on the autistic spectrum becomes more clear as a result of this ground-breaking research. It may be possible to find drugs that will switch on the affected areas. It well may be that when this is combined with ABA it will shorten the time needed to activate the synapses and accelerate the process of evidence-based learning. For those with mutated or deleted genes, there is now a possibility in the future, that as the affected genes are discovered, that gene therapy will be able to replace what has been damaged or lost.



.Links: [Including links to relevant articles] There are numerous good press releases on these findings, and the following link will take you to a wide selection of these articles. Links to further articles for those who would like to follow this research up in more detail are also provided.

ATAC - Action for Tasmanian Autistic Children!

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