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.

http://www.newsday.com/news/local/nassau/

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.

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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.

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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.

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A Unified Autism Theory - Genetic Without Being Heritable

The proposed Unified Autism Theory is another major paradigm shift in theories of autism causation. For a lay person like me, it challenges my understanding of genetics and heredity. Essentially the cause, or causes, of autism, can be genetic based without being heritable, arising from spontaneous mutations resulting in losses of genetic code and an inability to produce sufficient protein. The theory also suggests that there may be two classes of families, low-risk and high risk. New early treatments may be developed. But, as with any new theory, more data will be required to test the theory to determine the extent to which it is right or wrong.









http://tinyurl.com/2jx5ma

In work that may one day lead to earlier detection of children at risk of developing autism, a team of scientists has devised a genetic model for the enigmatic disorder. The two-tiered theory integrates families with one or more autistic children. An estimated one in every 150 children born in the U.S. develops autism, according to the Centers for Disease Control and Prevention (CDC); it is four times more prevalent in boys than in girls. The condition is characterized by cognitive deficiencies and symptoms ranging from antisocial (not responding to one's name and / or avoiding eye contact) to obsessive, repetitive behavior. The most popular theory about its genesis is that there are flaws in several genes passed down through generations of a family that culminate to predispose a child to the disorder, especially if exposed to certain environmental factors such as toxic chemicals or a lack of oxygen at birth. "People thought there was this uniform risk—if you have an autistic child, then there's some uniform, but fairly low, risk that you'll have another one," says Michael Wigler, a professor of genomics at Cold Spring Harbor Laboratory (CSHL) in Long Island, N.Y., and senior author of the new model described in Proceedings of the National Academy of Sciences USA. "None of the population geneticists, in my experience, had thought that there might be two classes of families: low risk and high risk."

Wigler's rethinking of autism's cause stems from an exhaustive analysis of risk based on a database of families with more than one autistic child. (The Autism Genetic Resource Exchange, or AGRE, manages the database.) The team determined that most cases of autism arise from novel, spontaneous mutations passed down from one or both parents, resulting in large gaps in a person's genome often encompassing several genes, which are then disrupted or inactivated. (This loss of genetic code—known as copy number variation—results in an offspring receiving only one of the standard two copies of a gene, which could cause an insufficient amount of protein to be produced by those genes.) In most instances, this mutation will result in an autistic child. However, in some cases—more likely in girls than boys—the recipient of this mutation will not produce any symptoms.

"When that child matures and becomes a parent, they have a 50 percent chance of transmitting … [their mutation] … to a child that might not be as lucky as they were, especially if … [its] … a boy," Wigler says. "So, they will be transmitting this with close to a 50 percent frequency—and that is the source of the high-risk families."

Wigler says that the team will continue to update its model as new figures are added to the AGRE database and try to gain new insight into the mechanism that gives girls greater resistance than boys. "To understand that [disparity] at a molecular or genetic level would be very important, because you could theoretically treat kids … you could detect something early and intervene," Wigler says. "I view it as the most important thing to understand."

Maja Bucan, an associate professor of genetics and gene variation at the University of Pennsylvania, says that the new autism model is a creative way to interpret the familial data. "It's important to come up with new theories and then just test them once we have more data," she explains. "I don't think we have enough data [yet] to say whether this theory is right or wrong."

According to Wigler, the new model "certainly changes the way you think about autism. The paradigm shift is … something can be genetic without being heritable. The field has ignored the contribution of spontaneous mutation for a whole range of things that matter a lot to society," which, he adds, includes schizophrenia and morbid childhood obesity.

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A Unified Theory of Autism?

The Autism Knowledge Revolution is picking up pace and seems at times to be adding to our knowledge of autism on a daily basis. A new study offers a genetic mutation model of autism acquisition which the scientists involved suggest may help unify some of the current disparate theories of autism. The theory involves mothers acquiring and passing on autism related genetic mutations to their children. The mutations are spontaneous, arising from assaults to chromosomes. The assaults can arise from a wide range of unspecified environmental facts including naturally occurring cosmic rays and environmental toxins and contaminants. In addition to maternal transmission of the autism related genetic mutation older moms are indicated as being more likely to have an autistic child according to this study by geneticists at Cold Spring Harbor Laboratory. Scientists from the Kennedy Krieger Institute and the Albert Einstein College of Medicine in the Bronx collaborated in the study. The data network developed by iancommunity.org also assisted the reasearchers in the study. This purported Unified Theory of Autism seems to fit with the autism research paradigm shift mentioned in an earlier post. Environment versus genetics as competing and conflicting theories of autism causation seems to be giving way to environment and genetics as a unified theory of autism develops.

From Newsday.com:

http://tinyurl.com/2mc92b

A new model for understanding how autism is acquired and passed from one generation to the next is being offered as a grand unification theory that links other theories and illustrates how women play a key role in transmitting the disorder, scientists reported yesterday.

Geneticists at Cold Spring Harbor Laboratory have been on a genome-wide hunt to pinpoint the genes that cause autism, a brain disorder that usually appears within the first three years of life and can result in difficulties in learning, language and social interaction.

As part of their search, geneticists at the laboratory have collaborated with scientists at Albert Einstein College of Medicine in the Bronx and crafted a working theory of the disorder to aid not only scientists, but also physicians and families coping with autistic children.

"We're really unifying a field that people didn't realize needed unification," said Cold Spring Harbor molecular geneticist Michael Wigler, who, along with his colleagues report results of their research in the Proceedings of the National Academy of Sciences.

What Wigler and his team found is a previously unrecognized pattern: Mothers, they say, acquire genetic mutations spontaneously that are specific to autism, which can be passed to their children. The mothers do not themselves exhibit traits of the disorder, but they have a 50 percent chance of transmitting the trait.

Wigler describes spontaneous mutations as significant assaults to chromosomes that alter the function of genes. In addition to mothers playing a key role transmitting the autism-related mutations, Wigler said older mothers are more likely than younger ones to have an autistic child.

Genes can be damaged, he said, by cosmic rays that occur naturally, toxins and a vast array of environmental contaminants that have yet to be identified.

"There's very definitely a male/female disparity in autism," Wigler said, but there is still isn't strong evidence explaining why boys are more affected than girls. Boys are three times more likely than girls to develop the condition, Wigler said.

Paul Law of the Kennedy Krieger Institute in Baltimore, a collaborator on the project and the father of an autistic son, said hunting down genetic clues to autism will offer clarity in the face of a mystifying condition.

He and his wife, Kiely, developed iancommunity.org, a database that not only helps families but also aided Wigler in the study reported today. The database includes information on autism from families throughout the United States. "This demonstrates the power of the families, that they are a valuable source of information and that's really the building block," Law said.

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