By Laura McFarland
Rocky Mount Telegram
Kristina Day's gut tells her that her youngest son does not have autism.
In his short, 6-month life, William Day has not shown any of the symptoms, but she is not willing to rule it out. She said she was burned too badly before her oldest son, Matthew, 4, was diagnosed with the disorder.
"If (William) does have autism, it is high-functioning. I haven't seen the sensory issues, and I haven't seen the developmental delays ... but I don't know right now," said Day of Durham.
It wasn't the fear of having another autistic child that convinced Day to have William participate in a study about infants at risk for the disorder. Her motivation was more about helping doctors learn everything they can about autism.
William is one of a handful of babies already participating in a study to look at their brain development and behavior, said Dr. Heather Cody Hazlett, a co-investigator of the study and an assistant professor of psychiatry at the University of North Carolina-Chapel Hill. He and the other infants involved in the study have been deemed at high risk for autism because they have an older sibling who already has been diagnosed.
The national study will look at 400 infants across the nation during the next five years – 100 of them at UNC-Chapel Hill, Hazlett said. The university already has enrolled 10 children and is looking for other families who would like to participate.
"The first thing that we would hope to accomplish is to get a better understanding of what is going on in early brain development in children with autism. Ultimately, we would hope to find biological features associated with brain growth that might help us with earlier identification or diagnoses of autism," Hazlett said.
Autism is a developmental disability that usually appears during the first three years of life and affects a person's ability to communicate and interact with others, Hazlett said.
The disorder is typically characterized by the presence of repetitive behaviors or restricted interests. It is a lifelong condition with no cure and no single known cause.
The study looks at the infants at their 6-, 12- and 24-month-old marks, Hazlett said. If a child misses the 6-month tests, the study is enrolling some for the next stage.
Participating in the study means bringing the infant to UNC-Chapel Hill for developmental and behavioral testing and an MRI that is done while the child is sleeping, Hazlett said.
There is no sedation. The tests are repeated at all three age marks.
"It is the only study that I am aware of that is trying to take such a comprehensive look at very early brain development in autism. Because we don't know the cause of autism, we are looking for ways to better identify children who may develop autism early so that we can start intervention as early as possible," Hazlett said.
Day would have appreciated the benefit of early detection. She was suspecting something was wrong with Matthew when he was 5 months old.
He was diagnosed with a sensory-based feeding disorder and a sensory integration dysfunction at 13 months. At 18 months, doctors suspected autism, but they wouldn't confirm it until he turned 2, despite a growing list of signs.
"He can't tolerate certain textures, certain smells. He used to not be able to tolerate certain colors of food. He still eats a 50 percent puree diet. He cannot chew some hard food, and he can't actively swallow because of the way it feels in his mouth," Day said.
Day believes autism is a biological condition children are born with, not something they contract from a vaccine. That is part of what she hopes the study will help prove.
People who participate in the study are reimbursed for travel and lodging during the three visits, Hazlett said. There is also a small compensation for participating.
The study will be enrolling infants with older siblings with autism for at least a few more years, Hazlett said.
Saturday, July 26, 2008
Autism May Be More Genes Than Environment, Studies Say
Three Separate Studies Point to Abnormal Gene as Cause of Autism
By AUDREY GRAYSON
ABC News Medical Unit
When Ann Hotez's third child Rachel was diagnosed with autism at the age of 2, the mother's first reaction was to believe something she had done while pregnant had brought about the condition.
"I was blaming myself terribly, like it was something I did wrong during my pregnancy," Hotez said.
She began racking her brain for a possible explanation for possible causes of the condition. This was 1994 and comparatively little information was available about autism. Many doctors still believed the disorder was caused by environmental factors.
Hotez, desperate to find a reason for her daughter's disorder, landed upon the fish industry.
"For a while I was furious at all the fish companies for letting me eat tuna fish while I was pregnant with Rachel," she explained.
But as more research became available on the genetics of autism, Hotez reconciled her pain with the understanding that the disorder doesn't have one simple external cause. Indeed, for years now, scientists have suspected that autism is a complex genetic disorder, the development of which depends on a constellation of genes working together rather than the work of one single gene.
Now, three different laboratories across the country have identified the same gene abnormality as a possible cause of autism — adding to the growing body of evidence that the disorder is primarily genetic.
The gene — known to scientists as contactin-associated proteinlike 2 (CNTNAP2) — has been a prime autism suspect among scientists. The gene is a blueprint of sorts for an important protein involved in the ability of brain cells to communicate with each other properly.
Today, a group of studies published in the American Journal of Human Genetics not only confirmed the link between this gene and autism, but they begin to identify the specific role this gene plays in the development of the disorder.
Three Studies, Similar Findings
While each of the studies found that this genetic variant increases the risk of developing autism, one of them also revealed that the gene variation is especially risky when inherited from mothers rather than fathers.
In the first part of the study, researchers analyzed data from 145 children with autism whose families had two or more children with the condition. They found by chance that the subjects had a higher rate of the abnormal gene.
To validate these findings, researchers studied a separate group of participants, which included 1,295 autistic children and their healthy parents. They found again that the subjects had higher rates of the variant gene than would have occurred by chance.
When researchers combined the data from the two studies, they found that children with autism were about 20 percent more likely to have inherited this genetic variant from their mothers than from their fathers.
According to Aravinda Chakravarti, primary investigator and a professor at Johns Hopkins School of Medicine, this research may take us one step closer to a better understanding of the genetic causes of autism and how large a role environmental factors truly play in the development in the disorder.
"Environmental factors might be important, but we don't know which or how much they affect the development of this disorder," Chakravarti said. "But I'm very confident that this is a first step in a series of steps we need to take to study autism with some measure of comprehensiveness before we can estimate the totality of meaning for the role of environmental factors."
In another lab across the country, researchers at UCLA landed upon the same gene — CNTNAP2 — as a possible candidate for autism. But the UCLA researchers identified the specific role this gene might play in affecting language, thought and behavior for people with autism.
Taking a different approach, these investigators used data from the Autism Genetic Resource Exchange and studied the DNA of 291 families nationwide who had at least one autistic child. They also found that an unusually high number of the autistic subjects had this gene variant.
To verify their findings, researchers studied the DNA of a new group of 304 families and found that the CNTNAP2 gene variant showed up consistently in the autistic subjects.
Moreover, researchers took a closer look at the gene to see how it might bring about autism. Daniel Geschwind, principal study investigator and director of the UCLA Center for Autism Research, said they discovered that in young children, the gene was most active in language and thought.
"We found that the longer the language delay an autistic child had, the more likely they were to have the CNTNAP2 variant," Geschwind explained. "So having this variant at least partially explains amount of language delay in autism."
A third study released in the same journal identified specific mutations on the same gene, which were individually rare for each autistic patient. Researchers at Yale University sequenced the entire gene and found that autistic patients often had unique mutations on the gene, which were not found in any members of the healthy control group.
This finding exemplifies the complexity of the findings on this gene as well as the disorder itself, said Dr. Matthew State, principal investigator of the study and director of the Program on Neurogenetics at Yale University. He noted that even though his team took a different approach to unlocking the possible genetic causes of autism than the other two teams, "we still landed on the same gene which is quite interesting, but more work needs to be done to sort out what's going on here."
Could Genes Trump Environmental Factors?
Many experts support Chakravarti's belief that this research adds to the evidence that genetic factors play more of a role in the development of autism than environmental factors.
"Environmental factors in autism is a separate issue," said Carla Mazefsky, assistant professor of pediatrics and psychiatry at the University of Pittsburgh School of Medicine. "Given autism's strong genetic basis, identification of genes that play a role is of critical importance. This study further emphasizes the complexity of the genetics underlying autism."
"Autism is a disorder of fetal or early postnatal brain development with a genetic origin," agreed Vittorio Gallo, director of the Center for Neuroscience Research at the Children's National Medical Center in Washington, D.C.
Margit Burmeister, associate director of the Molecular and Behavioral Neuroscience Institute at the University of Michigan, said that "this study adds to the evidence that genetic factors play a role and adds strong results to the idea that cell adhesion in the brain plays a role in autism." However, she said she believes that environmental factors still play a role in the development of the disorder.
"This is similar to risk for diabetes, which is very strongly affected by exercise, weight and sugar consumption, but some people can be coach potatoes and eat what they want and don't get sick. Those with a more resilient genetic predisposition for autism may get the same environmental factors without ill effect," Burmeister explained.
But the findings that suggest genetics may play a stronger role than environmental factors may be a small measure of comfort for parents like Hotez, who may have blamed themselves for their child's condition.
"In my heart now I know it's a genetic disorder," she said. "I don't think it's caused by any of the environmental [factors] they talk about in the news."
By AUDREY GRAYSON
ABC News Medical Unit
When Ann Hotez's third child Rachel was diagnosed with autism at the age of 2, the mother's first reaction was to believe something she had done while pregnant had brought about the condition.
"I was blaming myself terribly, like it was something I did wrong during my pregnancy," Hotez said.
She began racking her brain for a possible explanation for possible causes of the condition. This was 1994 and comparatively little information was available about autism. Many doctors still believed the disorder was caused by environmental factors.
Hotez, desperate to find a reason for her daughter's disorder, landed upon the fish industry.
"For a while I was furious at all the fish companies for letting me eat tuna fish while I was pregnant with Rachel," she explained.
But as more research became available on the genetics of autism, Hotez reconciled her pain with the understanding that the disorder doesn't have one simple external cause. Indeed, for years now, scientists have suspected that autism is a complex genetic disorder, the development of which depends on a constellation of genes working together rather than the work of one single gene.
Now, three different laboratories across the country have identified the same gene abnormality as a possible cause of autism — adding to the growing body of evidence that the disorder is primarily genetic.
The gene — known to scientists as contactin-associated proteinlike 2 (CNTNAP2) — has been a prime autism suspect among scientists. The gene is a blueprint of sorts for an important protein involved in the ability of brain cells to communicate with each other properly.
Today, a group of studies published in the American Journal of Human Genetics not only confirmed the link between this gene and autism, but they begin to identify the specific role this gene plays in the development of the disorder.
Three Studies, Similar Findings
While each of the studies found that this genetic variant increases the risk of developing autism, one of them also revealed that the gene variation is especially risky when inherited from mothers rather than fathers.
In the first part of the study, researchers analyzed data from 145 children with autism whose families had two or more children with the condition. They found by chance that the subjects had a higher rate of the abnormal gene.
To validate these findings, researchers studied a separate group of participants, which included 1,295 autistic children and their healthy parents. They found again that the subjects had higher rates of the variant gene than would have occurred by chance.
When researchers combined the data from the two studies, they found that children with autism were about 20 percent more likely to have inherited this genetic variant from their mothers than from their fathers.
According to Aravinda Chakravarti, primary investigator and a professor at Johns Hopkins School of Medicine, this research may take us one step closer to a better understanding of the genetic causes of autism and how large a role environmental factors truly play in the development in the disorder.
"Environmental factors might be important, but we don't know which or how much they affect the development of this disorder," Chakravarti said. "But I'm very confident that this is a first step in a series of steps we need to take to study autism with some measure of comprehensiveness before we can estimate the totality of meaning for the role of environmental factors."
In another lab across the country, researchers at UCLA landed upon the same gene — CNTNAP2 — as a possible candidate for autism. But the UCLA researchers identified the specific role this gene might play in affecting language, thought and behavior for people with autism.
Taking a different approach, these investigators used data from the Autism Genetic Resource Exchange and studied the DNA of 291 families nationwide who had at least one autistic child. They also found that an unusually high number of the autistic subjects had this gene variant.
To verify their findings, researchers studied the DNA of a new group of 304 families and found that the CNTNAP2 gene variant showed up consistently in the autistic subjects.
Moreover, researchers took a closer look at the gene to see how it might bring about autism. Daniel Geschwind, principal study investigator and director of the UCLA Center for Autism Research, said they discovered that in young children, the gene was most active in language and thought.
"We found that the longer the language delay an autistic child had, the more likely they were to have the CNTNAP2 variant," Geschwind explained. "So having this variant at least partially explains amount of language delay in autism."
A third study released in the same journal identified specific mutations on the same gene, which were individually rare for each autistic patient. Researchers at Yale University sequenced the entire gene and found that autistic patients often had unique mutations on the gene, which were not found in any members of the healthy control group.
This finding exemplifies the complexity of the findings on this gene as well as the disorder itself, said Dr. Matthew State, principal investigator of the study and director of the Program on Neurogenetics at Yale University. He noted that even though his team took a different approach to unlocking the possible genetic causes of autism than the other two teams, "we still landed on the same gene which is quite interesting, but more work needs to be done to sort out what's going on here."
Could Genes Trump Environmental Factors?
Many experts support Chakravarti's belief that this research adds to the evidence that genetic factors play more of a role in the development of autism than environmental factors.
"Environmental factors in autism is a separate issue," said Carla Mazefsky, assistant professor of pediatrics and psychiatry at the University of Pittsburgh School of Medicine. "Given autism's strong genetic basis, identification of genes that play a role is of critical importance. This study further emphasizes the complexity of the genetics underlying autism."
"Autism is a disorder of fetal or early postnatal brain development with a genetic origin," agreed Vittorio Gallo, director of the Center for Neuroscience Research at the Children's National Medical Center in Washington, D.C.
Margit Burmeister, associate director of the Molecular and Behavioral Neuroscience Institute at the University of Michigan, said that "this study adds to the evidence that genetic factors play a role and adds strong results to the idea that cell adhesion in the brain plays a role in autism." However, she said she believes that environmental factors still play a role in the development of the disorder.
"This is similar to risk for diabetes, which is very strongly affected by exercise, weight and sugar consumption, but some people can be coach potatoes and eat what they want and don't get sick. Those with a more resilient genetic predisposition for autism may get the same environmental factors without ill effect," Burmeister explained.
But the findings that suggest genetics may play a stronger role than environmental factors may be a small measure of comfort for parents like Hotez, who may have blamed themselves for their child's condition.
"In my heart now I know it's a genetic disorder," she said. "I don't think it's caused by any of the environmental [factors] they talk about in the news."
Savage's Comments Infuriate Autism Community
Autism Researchers, Groups Find Common Ground in Condemning Radio Jock
By DAN CHILDS
ABC News Medical Unit
As autism organizations and medical professionals alike voice their outrage at inflammatory comments made by controversial talk radio host Michael Savage, about most autistic children simply being "brats," the head of the network that employs him appears to be taking measures to pull out of a public relations tailspin.
Savage, who in the past, has taken aim at the legitimacy of attention deficit hyperactivity disorder (ADHD) and other behavioral disorders, called autism a "fraud" and a "racket" during his July 16 broadcast, adding that "[i]n 99 percent of the cases, it's a brat who hasn't been told to cut the act out."
In light of strong public reaction to his statements, Savage issued a statement, further explaining his comments.
"My comments about autism were meant to boldly awaken parents and children to the medical community's attempt to label too many children or adults as 'autistic'," the statement read.
"Just as some drug companies have overdiagnosed 'ADD' and 'ADHD' to peddle dangerous speed-like drugs to children as young as 4 years of age, this cartel of doctors and drug companies is now creating a national panic by overdiagnosing 'autism,' for which there is no definitive medical diagnosis!"
In a response to ABC News' request for comment, Mark Masters, the CEO of Talk Radio Network, sent the same statement that had been posted on Savage's Web site.
The statement has done little to blunt reactions to his strong comments, which have forged an unlikely alliance between a number of autism groups that claim doctors are overlooking the true causes of the disorder, and autism researchers in the mainstream medical community.
"I would say it is the lowest form of attention-seeking, and the best response is silence," said Dr. Nancy Minshew, director of the Center for Excellence in Autism Research (CeFAR) at the University of Pittsburgh. "Tune out and his sponsors will turn him off. Declare a day of mourning for those who suffer and a day of prayer for those who care by not calling or responding."
"I think we're seeing a trend within talk radio -- anger toward people with autism," said Kim Stagliano, managing editor of the popular blog Age of Autism. "As we learn more about autism, there seems to be an acceptable level of tolerance within society, but within talk radio, the sympathy has turned into scorn."
And Rebecca Estepp, national manager of the autism advocacy group Talk About Curing Autism (TACA) says Masters has e-mailed her organization and invited them, along with the National Autism Association, to be guests on Savage's show to "make amends with the autism community."
But it is unclear whether the autism community is ready to bury the hatchet.
"Michael Savage is spectacularly uninformed about this major national health crisis," Estepp said. "His comments were beyond insulting and are tantamount to blaming parents for their child's cancer.
"Perhaps 99 percent of his listeners should stop tuning in."
Groups Differ on Appropriate Response
Autism experts say Savage's statements threaten to alter the public's understanding of the disorder.
"It is unfortunate that, just as the public is beginning to be better informed about autism and related disorders, a prominent individual in the media with a wide audience should spread misinformation," said Katherine Loveland, professor of psychiatry and behavioral sciences and pediatrics at the University of Texas Medical School in Houston. "Although it's his right to believe and to say what he wishes, his statements should not go un-challenged by the medical, scientific and advocacy communities."
But, while those in the autism community overwhelmingly disagree with Savage's viewpoint, there is as yet no consensus as to what action, if any, should be taken.
Some say that ignoring the comments is the best approach.
"Mr. Savage is obviously a complete ignoramus, who knows not the first thing about autism," said Deborah Fein, autism researcher and professor of psychology at the University of Connecticut. "However, I doubt he believes what he said; he is obviously just trying to get media and public attention, which he has succeeded in doing."
"The less attention given to Mr. Savage, the better," agreed Marguerite Kirst Colston, spokeswoman for the Autism Society of America.
But, the nation's other major autism groups have suggested that a stronger response is needed. In a statement issued today, the National Autism Association said that representatives from the organization have agreed to be on a panel on Savage's show to respond.
"We've asked for an apology, a retraction, and a chance to get to our side on this issue," the statement read. "We don't want to respond with an attack, we want to educate him and his listeners."
The advocacy group Autism Speaks urged a response in the interest of further educating the public about the nature of autism.
"One important goal of increasing awareness about autism is to foster a greater level of acceptance and understanding of the very real and significant challenges it poses to individuals with the disorder and their families," read a statement issued today by Autism Speaks. "[T]here are those who are apparently incapable of feeling compassion. They deserve our pity, not our scorn."
Stagliano disagreed: "We don't need to 'pity' Mr. Savage, like Autism Speaks suggests; we need to educate him."
By DAN CHILDS
ABC News Medical Unit
As autism organizations and medical professionals alike voice their outrage at inflammatory comments made by controversial talk radio host Michael Savage, about most autistic children simply being "brats," the head of the network that employs him appears to be taking measures to pull out of a public relations tailspin.
Savage, who in the past, has taken aim at the legitimacy of attention deficit hyperactivity disorder (ADHD) and other behavioral disorders, called autism a "fraud" and a "racket" during his July 16 broadcast, adding that "[i]n 99 percent of the cases, it's a brat who hasn't been told to cut the act out."
In light of strong public reaction to his statements, Savage issued a statement, further explaining his comments.
"My comments about autism were meant to boldly awaken parents and children to the medical community's attempt to label too many children or adults as 'autistic'," the statement read.
"Just as some drug companies have overdiagnosed 'ADD' and 'ADHD' to peddle dangerous speed-like drugs to children as young as 4 years of age, this cartel of doctors and drug companies is now creating a national panic by overdiagnosing 'autism,' for which there is no definitive medical diagnosis!"
In a response to ABC News' request for comment, Mark Masters, the CEO of Talk Radio Network, sent the same statement that had been posted on Savage's Web site.
The statement has done little to blunt reactions to his strong comments, which have forged an unlikely alliance between a number of autism groups that claim doctors are overlooking the true causes of the disorder, and autism researchers in the mainstream medical community.
"I would say it is the lowest form of attention-seeking, and the best response is silence," said Dr. Nancy Minshew, director of the Center for Excellence in Autism Research (CeFAR) at the University of Pittsburgh. "Tune out and his sponsors will turn him off. Declare a day of mourning for those who suffer and a day of prayer for those who care by not calling or responding."
"I think we're seeing a trend within talk radio -- anger toward people with autism," said Kim Stagliano, managing editor of the popular blog Age of Autism. "As we learn more about autism, there seems to be an acceptable level of tolerance within society, but within talk radio, the sympathy has turned into scorn."
And Rebecca Estepp, national manager of the autism advocacy group Talk About Curing Autism (TACA) says Masters has e-mailed her organization and invited them, along with the National Autism Association, to be guests on Savage's show to "make amends with the autism community."
But it is unclear whether the autism community is ready to bury the hatchet.
"Michael Savage is spectacularly uninformed about this major national health crisis," Estepp said. "His comments were beyond insulting and are tantamount to blaming parents for their child's cancer.
"Perhaps 99 percent of his listeners should stop tuning in."
Groups Differ on Appropriate Response
Autism experts say Savage's statements threaten to alter the public's understanding of the disorder.
"It is unfortunate that, just as the public is beginning to be better informed about autism and related disorders, a prominent individual in the media with a wide audience should spread misinformation," said Katherine Loveland, professor of psychiatry and behavioral sciences and pediatrics at the University of Texas Medical School in Houston. "Although it's his right to believe and to say what he wishes, his statements should not go un-challenged by the medical, scientific and advocacy communities."
But, while those in the autism community overwhelmingly disagree with Savage's viewpoint, there is as yet no consensus as to what action, if any, should be taken.
Some say that ignoring the comments is the best approach.
"Mr. Savage is obviously a complete ignoramus, who knows not the first thing about autism," said Deborah Fein, autism researcher and professor of psychology at the University of Connecticut. "However, I doubt he believes what he said; he is obviously just trying to get media and public attention, which he has succeeded in doing."
"The less attention given to Mr. Savage, the better," agreed Marguerite Kirst Colston, spokeswoman for the Autism Society of America.
But, the nation's other major autism groups have suggested that a stronger response is needed. In a statement issued today, the National Autism Association said that representatives from the organization have agreed to be on a panel on Savage's show to respond.
"We've asked for an apology, a retraction, and a chance to get to our side on this issue," the statement read. "We don't want to respond with an attack, we want to educate him and his listeners."
The advocacy group Autism Speaks urged a response in the interest of further educating the public about the nature of autism.
"One important goal of increasing awareness about autism is to foster a greater level of acceptance and understanding of the very real and significant challenges it poses to individuals with the disorder and their families," read a statement issued today by Autism Speaks. "[T]here are those who are apparently incapable of feeling compassion. They deserve our pity, not our scorn."
Stagliano disagreed: "We don't need to 'pity' Mr. Savage, like Autism Speaks suggests; we need to educate him."
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