Tuesday, August 14, 2007

Reseach Based Autism Understanding and Hope for Treatment

Children and adults with autism and their families have been cursed by ignorance. Ignorance of what autism is, what causes it and what treatments are suitable. From Bettleheim, to his heirs in the Neurodiversity movement today, parents have been scapegoated for the challenges faced by autistic children, children who become adults and in some cases face greater challenges alone, without family. A variety of quack treatments have defrauded families of time, money and hope.

Early intensive intervention with Applied Behavior Analysis has been demonstrated and proven effective in helping many autistic persons to overcome their autism deficits or improve their abilities to function and understand the world. But ABA is expensive and time consuming and governments and other service providers have resisted the introduction and proper provision of ABA services. They have been aided in their resistance by ideologues with personal agendas who argue against ABA on any ground they can and who will use distorted caricatures of ABA to advance their agendas.

Today research into the causes of autism and possible biomedical treatments is exploding. An Autism Knowledge Revolution is taking place. The paradigm for researching and understanding autism has shifted to a combined genetic/environmental perspective withtreatments encompassing combined biomedical/behavioral approaches. Each days headlines bring new reports of important developments. With this research is coming greater understanding of autism, its genetic roots and its environmental triggers. And hope for treatments that will help all autistic persons grows.


Researchers: New understanding of autism is near

Last month, the Cold Spring Harbor team developed a grand unification theory that stitched together previous notions about the genetics of autism and demonstrated how DNA variants - often transmitted from mothers to sons but not exclusively so - may lie at the disorder's roots. Boys are three times more likely than girls to develop autism, Wigler said.
He's calling on the CDC to use laboratory techniques similar to the ones he and his Cold Spring Harbor collaborators have developed to assess the prevalence of autism-related mutations in the U.S. population. Screening would help provide guidance on the rate of autism's growth in the population, he said.


Based on his work to date, Wigler surmises a clear genetic understanding of the numerous ways in which autism manifests may be tantalizingly close: "I expect that we'll have a very good bead on a number of the [genetic] causes," of autism in the not-too-distant future, Wigler said. "And I suspect there will be a way to treat children to lessen the symptoms." With his Cold Spring Harbor collaborators, Jonathan Sebat and Lakshmi Muthuswamy, Wigler has found that spontaneous mutations specific to autism occur with a relative degree of frequency in the human genome. These random strikes are technically known as copy number variants, or CNVs. The Cold Spring Harbor team defines these mutating hits as a major cause of autism.


Alison Singer, executive director of Autism Speaks, a national advocacy organization, said the Cold Spring Harbor studies are destined to have a strong impact on how parents understand autism.

"We want them to pursue the science wherever it leads," Singer said. "But we don't want to get into a situation where we blame the parents. When some parents read stories about older fathers or older mothers, they can become very sensitive."

Singer said what's missing in Wigler's work is the mechanism that causes genes to mutate. Susceptibility genes, she said, often need an outside stimulus to set off a genetic chain of events. Perhaps parents may be correct who think vaccination underlies autism, said Singer, whose daughter and brother are autistic.

"In the 1960s, when my brother was diagnosed, there was the theory of the 'refrigerator mother,' the mother who was too cold," Singer said. "They were essentially telling my mother that she wasn't interacting and bonding with her child. But, of course, we found out that autism is not the fault of bad parenting."

Wigler thinks his work will yield practical information that aids the lay and scientific understanding of autism. It is even possible that knowing which genes are affected can lead to medications that block the function of variant DNA.

1 comment:

Maya M said...

While I am sure that autism is largely genetic, I don't see why this should lead to blaming the parents.
When having a child, you pass to him mutations, old mutations passed to you from earlier generations and possibly some brand new mutations as well. This is inevitable. The only way to avoid it is to abstain from reproduction.
No one autism parent should feel guilty for his child's autism. He hasn't introduced the autism genes into his baby's genotype by gene therapy. The baby has received these genes in a package with the gift of life. And I hope nobody will dare to claim that the life of an autistic (no matter how severe his autism may be) isn't worth living.