Autism is on the rise, is mainly not due to better diagnosis and cannot be genetic

1. Autism is on the rise
   1. A recent Cambridge University report says that autism rates are as high as 1 in 60 in UK. http://www.dailymail.co.uk/news/article-1163606/One-child-60-suffers-form-autism.html.
2. Studies show it is not due to better diagnosis
   1. The UC Mind Institute recently released a study that shows most of the increased rates of autism are real, cannot be directly genetic and therefore due to environmental factors (toxins and infections) and that better diagnosis is just a small part of the statistics. http://www.medicalnewstoday.com/articles/134717.php
3. If autism was due to better diagnosis you would see an equal decrease in mental retardation which may now qualify for an autism spectrum diagnosis today.  If this were the case the IDEA and CDC chart data below, overall, would be flat.  The increase of autism and autism spectrum disorder (developmental delay) was at least double the decrease in mental retardation which cause the overall numbers to continue to climb.



4. Common Sense
   The fastest growing genetic disorder is a 1% increase over a 100-year period.  If you ask any person working with children (i.e. school teacher) if they have seen more than a ¼% increase of autism in the last 25 years (regardless of how you would diagnose it) you’ll hear “yes” virtually every time.  Autism is triggered by elements other than genes (it must be environmental).

Genetics And Autism

1.)  Only 11-15% of autism cases have been shown to have ANY relationship to genetics.

2.)  There is no evidence of a direct genetic link to autism.

3.)  All of the genetic variants found were only susceptibilities, meaning you could have the genetic profile and not have autism.

UC Mind Institute Study Says Much of the Increase is Environmental

Medical News Today

UC Davis M.I.N.D. Institute Study Shows California's Autism Increase Not Due To Better Counting, Diagnosis

08 Jan 2009  

A study by researchers at the UC Davis M.I.N.D. Institute has found that the seven- to eight-fold increase in the number children born in California with autism since 1990 cannot be explained by either changes in how the condition is diagnosed or counted - and the trend shows no sign of abating.

Published in the January 2009 issue of the journal Epidemiology, results from the study also suggest that research should shift from genetics to the host of chemicals and infectious microbes in the environment that are likely at the root of changes in the neurodevelopment of California's children.

"It's time to start looking for the environmental culprits responsible for the remarkable increase in the rate of autism in California," said UC Davis M.I.N.D. Institute researcher Irva Hertz-Picciotto, a professor of environmental and occupational health and epidemiology and an internationally respected autism researcher.

Hertz-Picciotto said that many researchers, state officials and advocacy organizations have viewed the rise in autism's incidence in California with skepticism.

The incidence of autism by age six in California has increased from fewer than nine in 10,000 for children born in 1990 to more than 44 in 10,000 for children born in 2000. Some have argued that this change could have been due to migration into California of families with autistic children, inclusion of children with milder forms of autism in the counting and earlier ages of diagnosis as consequences of improved surveillance or greater awareness.

Hertz-Picciotto and her co-author, Lora Delwiche of the UC Davis Department of Public Health Sciences, initiated the study to address these beliefs, analyzing data collected by the state of California Department of Developmental Services (DDS) from 1990 to 2006, as well as the United States Census Bureau and state of California Department of Public Health Office of Vital Records, which compiles and maintains birth statistics.

Hertz-Picciotto and Delwiche correlated the number of cases of autism reported between 1990 and 2006 with birth records and excluded children not born in California. They used Census Bureau data to calculate the rate of incidence in the population over time and examined the age at diagnosis of all children ages two to 10 years old.

The methodology eliminated migration as a potential cause of the increase in the number of autism cases. It also revealed that no more than 56 percent of the estimated 600-to-700 percent increase, that is, less than one-tenth of the increased number of reported autism cases, could be attributed to the inclusion of milder cases of autism. Only 24 percent of the increase could be attributed to earlier age at diagnosis.

"These are fairly small percentages compared to the size of the increase that we've seen in the state," Hertz-Picciotto said.

Hertz-Picciotto said that the study is a clarion call to researchers and policy makers who have focused attention and money on understanding the genetic components of autism. She said that the rise in cases of autism in California cannot be attributed to the state's increasingly diverse population because the disorder affects ethnic groups at fairly similar rates.

"Right now, about 10 to 20 times more research dollars are spent on studies of the genetic causes of autism than on environmental ones. We need to even out the funding," Hertz-Picciotto said.

The study results are also a harbinger of things to come for public-health officials, who should prepare to offer services to the increasing number of children diagnosed with autism in the last decade who are now entering their late teen years, Hertz-Picciotto said.

"These children are now moving toward adulthood, and a sizeable percentage of them have not developed the life skills that would allow them to live independently," she said.

The question for the state of California, Hertz-Picciotto said, will become: 'What happens to them when their parents cannot take care of them?'

"These questions are not going to go away and they are only going to loom larger in the future. Until we know the causes and can eliminate them, we as a society need to provide those treatments and interventions that do seem to help these children adapt. We as scientists need to improve available therapies and create new ones," Hertz-Picciotto said.

Hertz-Picciotto and her colleagues at the M.I.N.D Institute are currently conducting two large studies aimed at discovering the causes of autism. Hertz-Picciotto is the principal investigator on the CHARGE (Childhood Autism Risk from Genetics and the Environment) and MARBLES (Markers of Autism Risk in Babies-Learning Early Signs) studies.

CHARGE is the largest epidemiologic study of reliably confirmed cases of autism to date, and the first major investigation of environmental factors and gene-environment interactions in the disorder. MARBLES is a prospective investigation that follows women who already have had one child with autism, beginning early in or even before a subsequent pregnancy, to search for early markers that predict autism in the younger sibling.

"We're looking at the possible effects of metals, pesticides and infectious agents on neurodevelopment," Hertz-Picciotto said. "If we're going to stop the rise in autism in California, we need to keep these studies going and expand them to the extent possible."

The study was funded by grants from the National Institute of Environmental Health Sciences (NIEHS) and by the M.I.N.D. Institute.

In 1998, dedicated families concerned about autism helped found the UC Davis M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute. Their vision? Experts from every discipline related to the brain working together toward a common goal: curing neurodevelopmental disorders. Since that time, collaborative research teams at the M.I.N.D. Institute have turned that initial inspiration into significant contributions to the science of autism, fragile X syndrome, Tourette's syndrome, learning disabilities and other neurodevelopmental disorders that can limit a child's lifelong potential.

UC Davis M.I.N.D.

Article URL: http://www.medicalnewstoday.com/articles/134717.php

Main News Category: Autism

NY Times: Genes Show Limited Value in Predicting Diseases

By NICHOLAS WADE

April 16. 2009

http://www.nytimes.com/2009/04/16/health/research/16gene.html

The era of personal genomic medicine may have to wait. The genetic analysis of common disease is turning out to be a lot more complex than expected.

Since the human genome was decoded in 2003, researchers have been developing a powerful method for comparing the genomes of patients and healthy people, with the hope of pinpointing the DNA changes responsible for common diseases.

This method, called a genomewide association study, has proved technically successful despite many skeptics’ initial doubts. But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases.

A set of commentaries in this week’s issue of The New England Journal of Medicine appears to be the first public attempt by scientists to make sense of this puzzling result.

One issue of debate among researchers is whether, despite the prospect of diminishing returns, to continue with the genomewide studies, which cost many millions of dollars apiece, or switch to a new approach like decoding the entire genomes of individual patients.

The unexpected impasse also affects companies that offer personal genomic information and that had assumed they could inform customers of their genetic risk for common diseases, based on researchers’ discoveries.

These companies are probably not performing any useful service at present, said David B. Goldstein, a Duke University geneticist who wrote one of the commentaries appearing in the journal.

“With only a few exceptions, what the genomics companies are doing right now is recreational genomics,” Dr. Goldstein said in an interview. “The information has little or in many cases no clinical relevance.”

Unlike the rare diseases caused by a change affecting only one gene, common diseases like cancer and diabetes are caused by a set of several genetic variations in each person. Since these common diseases generally strike later in life, after people have had children, the theory has been that natural selection is powerless to weed them out.

The problem addressed in the commentaries is that these diseases were expected to be promoted by genetic variations that are common in the population. More than 100 genomewide association studies, often involving thousands of patients in several countries, have now been completed for many diseases, and some common variants have been found. But in almost all cases they carry only a modest risk for the disease. Most of the genetic link to disease remains unexplained.

Dr. Goldstein argues that the genetic burden of common diseases must be mostly carried by large numbers of rare variants. In this theory, schizophrenia, say, would be caused by combinations of 1,000 rare genetic variants, not of 10 common genetic variants.

This would be bleak news for those who argue that the common variants detected so far, even if they explain only a small percentage of the risk, will nonetheless identify the biological pathways through which a disease emerges, and hence point to drugs that may correct the errant pathways. If hundreds of rare variants are involved in a disease, they may implicate too much of the body’s biochemistry to be useful.

“In pointing at everything,” Dr. Goldstein writes in the journal, “genetics would point at nothing.”

Two other geneticists, Peter Kraft and David J. Hunter of the Harvard School of Public Health, also writing in the journal, largely agree with Dr. Goldstein in concluding that probably many genetic variants, rather than few, “are responsible for the majority of the inherited risk of each common disease.”

But they disagree with his belief that there will be diminishing returns from more genomewide association studies.

“There will be more common variants to find,” Dr. Hunter said. “It would be unfortunate if we gave up now.”

Dr. Goldstein, however, said it was “beyond the grasp of the genomewide association studies” to find rare variants with small effects, even by recruiting enormous numbers of patients. He said resources should be switched away from these highly expensive studies, which in his view have now done their job.

“If you ask what is the fastest way for us to make progress in genetics that is clinically helpful,” he said, “I am absolutely certain it is to marshal our resources to interrogate full genomes, not in fine-tuning our analyses of common variations.”

He advocates decoding the full DNA of carefully selected patients.

Dr. Kraft and Dr. Hunter say that a person’s genetic risk of common diseases can be estimated only roughly at present but that estimates will improve as more variants are found. But that means any risk estimate offered by personal genomics companies today is unstable, Dr. Kraft said, and subject to upward or downward revision in the future.

Further, people who obtain a genomic risk profile are likely to focus with horror on the disease for which they are told they are at highest risk. Yet this is almost certain to be an overestimate, Dr. Kraft said.

The reason is that the many risk estimates derived from a person’s genomic data will include some that are too high and some that are too low. So any estimate of high risk is likely to be too high. The phenomenon is called the “winner’s curse,” by analogy to auctions in which the true value of an item is probably the average of all bids; the winner by definition has bid higher than that, and so has overpaid.

Dr. Kari Stefansson, chief executive of deCODE Genetics, an Icelandic gene-hunting company that also offers a personal genome testing service, said deCODE alerted clients to pay attention to diseases for which testing shows their risk is three times as great as average, not to trivial increases in risk.

Dr. Stefansson said his company had discovered 60 percent of the disease variants known so far.

“We have beaten them in every aspect of the game,” he said of rival gene hunters at American and British universities.

The undiscovered share of genetic risk for common diseases, he said, probably lies not with rare variants, as suggested by Dr. Goldstein, but in unexpected biological mechanisms. DeCODE has found, for instance, that the same genetic variant carries risks that differ depending on whether it is inherited from the mother or the father.