Autism Genes Believed on Chromosome 11

Wouldn't it be great if they could fix the genes and cure autism?! Maybe even better, come up with a vaccine so pregnant women wouldn't have to worry about autism affecting their child?!

Feb. 19, 2007 -- Genes associated with an autism risk appear to be clustered in a region on chromosome 11, according to the largest study yet of families with a predisposition to the condition.

In a study of more than 1,100 families, the Autism Genome Project Consortium, consisting of 137 investigators from 50 centers in 19 countries, has closed in on a stretch of the chromosome where genes involved with the neurotransmitter glutamate are known to lie, reported Peter Szatman, Ph.D., of McMaster University, Bernie Devlin, Ph.D., of the University of Pittsburgh, and colleagues, online in Nature Genetics. "This study is by far the largest study ever conducted, in terms of both researchers and research subjects," said Joachim Hallmayer, M.D., of Stanford, a co-author. The results point the way toward further studies, but are far from definitive, the authors acknowledged.

"While promising, these results need to be followed up with more refined genetic maps to home in on other specific candidate genes. We also need to look more closely at chromosomal anomalies in large samples of children with autism," Dr. Hallmayer said. The investigators conducted genetic analyses on 1,168 families in which two or more members had a diagnosis of autism, as defined by either the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule, or by clinical evaluation.

Genetic analysis of such a large sample may be particularly revealing the authors wrote, because autism has a strong genetic component. They pointed out that in twin studies, there is a concordance for autism of 60% to 92% among identical (monozygotic) twins, and up to 10% for dizygotic pairs. "Although familial clustering in autism could reflect shared environmental factors, twin studies and the distribution of milder phenotypes in families favors a model involving multiple interacting loci," the investigators wrote.

More http://www.medpagetoday.com/Neurology/Autism/tb/5082

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Early testing to determine autism...

Pediatricians urge early autism screening
29 Oct. 2007 - American Academy of Pediatrics: Screen every child for autism twice by age 2; Report gives explicit instructions for the warning signs of autism at various ages; Autism a range of neurological disorders that affects communication, interaction; CDC estimates as many as one in 150 8-year-olds has a form of autism

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The American Academy of Pediatrics is making a push to have every child screened for autism twice by age 2. The academy's new report gives explicit instructions for the warning signs of autism at various ages. Parents should watch for signs, including not making eye contact, not recognizing a parent's voice, not babbling by age 9 months and not using pre-speech gestures such as waving, pointing and showing. Autism encompasses a range of developmental disabilities that affects communication and social interaction. The Centers for Disease Control and Prevention estimates as many as one in 150 8-year-olds has a form of autism.

Dr. Pauline Filipek, a child neurologist at the University of California-Irvine, said she hears much too often that even when parents push pediatricians, the doctors miss the signs of autism. "I hear this from parents all the time, that the pediatrician said, 'Don't worry,' or 'You're imagining things' or 'Let's wait,' " Filipek said. "When I give lectures to pediatricians, I tell them, 'Get these phrases out of your lexicon. Get them out of your vocabulary.' " Earlier diagnosis is crucial, she said, because it means earlier treatment.

"The research is very clear -- the earlier a child is treated, the better," according to Dr. Ami Klin, Harris associate professor of child psychology and psychiatry at the Yale Child Study Center. "It's never too early to start treatment." Usually autism is diagnosed at around 3, Klin said. The new American Academy of Pediatrics report tells pediatricians how to screen for the disorder in babies. For example, the report said a child at around 6 months should have a "to-and-fro pattern of vocalizations between infant and parent" instead of "vocalizing without regard for the parent's speech."

The academy's Web site links to videos of children with autism alongside those of "typical" children. For example, one video shows a "typical" child at 20 months playing make-believe games with two adults and trying to feed a bottle to a Big Bird stuffed animal. The accompanying video shows a child of the same age with autism in the same setting, ignoring the adults and stuffed animal and becoming aggravated when someone reaches out to him. (The video, part of a visual autism "glossary" on the Web site of the advocacy and education group Autism Speaks, requires registration.)

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New look at autism...

Autism ‘epidemic’ may be all in the label
Sun., Nov. 4, 2007 - Behaviors were as common years ago, but definition, diagnosis have shifted

A few decades ago, people probably would have said kids like Ryan Massey and Eddie Scheuplein were just odd. Or difficult. Both boys are bright. But Ryan, 11, is hyper and prone to angry outbursts, sometimes trying to strangle another kid in his class who annoys him. Eddie, 7, has a strange habit of sticking his shirt in his mouth and sucking on it.

Both were diagnosed with a form of autism. And it's partly because of children like them that autism appears to be skyrocketing: In the latest estimate, as many as one in 150 children have some form of this disorder. Groups advocating more research money call autism "the fastest-growing developmental disability in the United States." Indeed, doctors are concerned there are even more cases out there, unrecognized: The American Academy of Pediatrics last week stressed the importance of screening every kid — twice — for autism by age 2.

But many experts believe these unsociable behaviors were just about as common 30 or 40 years ago. The recent explosion of cases appears to be mostly caused by a surge in special education services for autistic children, and by a corresponding shift in what doctors call autism. Autism has always been diagnosed by making judgments about a child's behavior; there are no blood or biologic tests. For decades, the diagnosis was given only to kids with severe language and social impairments and unusual, repetitious behaviors.

More Autism ‘epidemic’ may be all in the label - Mental Health - MSNBC.com

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Autism research trying to unravel mysteries of the disorder...

Autistic kids have brain abnormalities
Wed., Nov. 28, 2007 - Those with disability have more gray matter in some areas, study says

Autistic children have more gray matter in areas of the brain that control social processing and sight-based learning than children without the developmental disability, a small study said on Wednesday. Researchers combined two sophisticated imaging techniques to track the motion of water molecules in the brain and pinpoint small changes in gray matter volume in 13 boys with high-functioning autism or Asperger syndrome and 12 healthy adolescents. Their average age was 11.

The autistic children were found to have enlarged gray matter in the parietal lobes of the brain linked to the mirror neuron system of cells associated with empathy, emotional experience and learning through sight. Those children also showed a decrease in gray matter volume in the right amygdala region of the brain that correlated with degrees of impairment in social interaction, the study found.

The researchers assessed patient brain function using a combination of diffusion tensor imaging (DTI) and a new imaging method called apparent diffusion coefficient based morphometry (ABM). Their findings were presented at the annual meeting of the Radiological Society of North America in Chicago. Unlike earlier technology, the technique can detect subtle changes in thousands of small sections of the brain, said the study’s lead author, Manzar Ashtari of the Children’s Hospital of Philadelphia. “Now we have sharper tools,” Ashtari said in an interview.

More Autistic kids have brain abnormalities - Mental health - MSNBC.com

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Lock her up and throw away the key...

Woman accused of stabbing autistic boy
Dec. 2, 2007 -- Police in Florida have arrested a 40-year-old woman for allegedly stabbing her autistic nephew with a knife and leaving him to bleed overnight.

Lauderhill Police Department spokesman, Lt. Rick Rocco, said Lisa Babington's nephew survived her alleged attack and identified his aunt as the person responsible for his significant injuries, the South Florida Sun-Sentinel reported Sunday.

Rocco said Thursday's brutal attack, which allegedly took place in front of the boy's grandmother, left the 14-year-old boy blind in one eye and that he could potentially lose sight in his other eye. "This is ghastly, I have never seen anything like it," Rocco said. "This is off the scale in terms of how could someone do something like this to anybody, let alone a juvenile."

The boy's grandmother, Stella Babington, alleged her daughter had repeatedly stabbed the boy in his eyes while uttering biblical verses aloud. The newspaper said the 72-year-old also is facing possible criminal charges for not contacting authorities regarding the attack.

Source

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Solving one form of autism...

A Fix for One Type of Autism
Wednesday, Dec. 19, 2007 - The causes of autism remain largely shrouded in mystery, but there are some types of the disorder that can be traced to specific gene defects.

The most common of these — responsible for roughly 5% of autism cases — is a flaw in the X chromosome that causes a condition known as Fragile X Syndrome. Because the defect has been studied on a molecular level, it provides a unique window into understanding autism — and treating it. And that is why a paper published in this week's issue of the journal Neuron is bound to generate excitement, even though the work was done in rodents. It shows that wide-ranging symptoms of Fragile X, which include epilepsy, impaired mental functioning, aberrant brain structure and other abnormalities, can be reversed. The work, researchers say, holds enormous promise for humans with Fragile X and probably for other forms of autism as well.

Roughly 1 in 3,600 people have Fragile X Syndrome, with boys more severely affected than girls. People with the disorder are easily identified by their elongated faces and prominent ears; about half of them fall somewhere on the autism spectrum and most are mentally retarded or learning disabled as well. Fragile X occurs when the brain fails to produce normal quantities of a chemical known as the Fragile X mental retardation protein, or FMRP. This protein appears to act as a brake on the production of other proteins in the brain, including those associated with learning and memory. Without enough FMRP, protein production spins out of control, like a runaway train. The brain develops an abnormally dense number of connections, resulting in a variety of physical, mental and behavioral problems. "Fragile X is a disorder of excess," explains Mark Bear, lead author of the Neuron paper. "There are too many synapses, accelerated body growth, excessive protein synthesis, and excessive excitability, which leads to epilepsy."

Scientists have suspected that FRMP exerts its braking action by attaching to receptors on the surface of brain cells, known as mGR5 receptors (the G is for glutamate, a key signaling agent in the brain). They reasoned that it would be possible to correct the excesses of Fragile X by blocking these receptors, which act as accelerators of protein production. To test this idea, the researchers produced a special breed of mice that had the Fragile X trait but only half the normal number of mGR5 receptors. The result, explains Bear: "We were able to correct the excesses [of Fragile X], taking our foot off the accelerator."

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Mercury removed but still a rise in autism...

Autism Rate Is Still Rising
January 7, 2008 WASHINGTON -- Researchers at the California Department of Public Health said autism rates in that state have continued to rise despite the removal of the mercury-containing preservative thimerosal from most childhood vaccines.

The research, which is being published in this month's Archives of General Psychiatry, looked at autism rates of children ages 3 to 12 from 1995 through March 2007 who had active cases with the department, or those who were receiving services from the state for an autism disorder. In 1999 federal health officials recommended the elimination of thimerosal from children's vaccines on concerns about a possible link to rising autism rates seen in the 1990s.

In 2004, the Institute of Medicine concluded there wasn't a relationship between the mercury-containing vaccines and autism, but recommended researchers continue looking at autism rates as thimerosal exposure dropped. Autism is characterized as impairments in social interaction, communication, and unusual behavior and interests. The cause of the disorder isn't known, and there is no cure, although medication and therapy can improve symptoms. Other states besides California have also reported an increase in autism rates.

Federal health officials have said part of the increase in rates, which fall under a broader definition known as autism spectrum disorders and also include Asperger's syndrome and pervasive developmental disorders, may be because of better and earlier diagnosis of the problem. Indeed, the data from California's Public Health Department showed the estimated prevalence of autism for children at each year of age from 3 to 12 increased throughout the study period. The autism rate of children age 3 in 1993 was 0.3 per 1,000 births and rose to 1.3 per 1,000 for children age 3 in 2003, or the age at which many children enter the state system.

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New findings on autism...

Rare genetic glitch hikes risk of autism
9 Jan. 2008 - Finding instills hope for better understanding, treatment of disorder

A rare genetic variation dramatically raises the risk of developing autism, a large study showed, opening new research targets for better understanding the disorder and for treating it. Research into the causes of autism has focused on genetic causes because so many families have multiple children with the disorder. Thus far, only about 10 percent of autism cases have a known genetic cause. Boston-area researchers estimate the gene glitch they’ve identified accounts for another 1 percent of cases.

They found a segment of a chromosome which has genes linked to brain development and various developmental disorders was either missing or duplicated far more often in autistic people. The defect was inherited in some cases, but more often the result of a random genetic accident.

The results from the Autism Consortium study, released online Wednesday by the New England Journal of Medicine, confirm those of smaller studies by U.S. and Canadian research groups in the past year. The consortium verified its findings by checking two other DNA databases. “They really did nail it,” said Dr. Andrew Zimmerman, director of the Kennedy Krieger Institute’s Center for Autism & Related Disorders in Baltimore, who was not involved in the research.

Revealing more gene variations

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Cause of Fragile X syndrome uncovered
Jan. 9, 2008 -- U.S. researchers said they uncovered the core mechanisms that cause Fragile X syndrome, the most common cause of inherited mental retardation.

Kimberly Huber, a neuroscientist at University of Texas Southwestern Medical Center, said it appears two different chemical signals go awry in Fragile X syndrome, indicating that drugs that interact with these signals might be a pathway to help treat the syndrome, the university said Wednesday in a release. The findings are published in the Journal of Neuroscience.

"The more we know about how signaling mechanisms in the brain lead to normal memory and learning, the better we can understand what goes wrong in conditions such as Fragile X syndrome," Huber said in a statement. "Our research is laying the groundwork for such understanding and indicates a new area for research."

The report said Fragile X syndrome got its name because it affects a single gene, Fmr1, on the X chromosome. Under a microscope, the area around the gene looks narrower than normal, or "fragile."

Source

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TV Show Sparks Controversy Over Autism...

Vaccine-Autism Debate Moves to Small Screen
Jan. 31, 2008 : Medical Groups Say ABC TV Show Story Line Could Undermine Childhood Vaccinations

For Dr. Peter Hotez, who has a 15-year-old autistic daughter, life is a daily struggle— from getting her dressed to finding a child psychiatrist to help the family deal with her need for rigidity and routine. As a parent, Hotez wants a cure and better treatments for this unrelenting disorder that strikes nearly 150 in 1,000 American children. But as a doctor who is constantly being asked by parents whether autism is caused by childhood vaccines, he worries that "unfounded science" could stand in the way of real research to help his daughter.

"Television is powerful and can create enough buzz to keep people concerned," Hotez told ABCNEWS.com. "But the overwhelming evidence is that the cause is genetic." Hotez, a vaccine researcher at the George Washington University, is concerned about a fictional television show that taps into a belief by anti-vaccine groups that autism may be caused by mercury used in flu vaccines. Today, ABC will premiere "Eli Stone," a legal show it calls a "drama-dy with fantastical elements." In the first story line, a jury awards the mother of an autistic child $5.2 million in damages after it is revealed that the CEO of a vaccine maker kept his daughter from getting the company's mercury-based vaccine.

Major health authorities, including the U.S. Centers for Disease Control and Prevention, the Food and Drug Administration, the Institute of Medicine and the World Health Organization, have all studied and rejected possible links between autism and vaccines. Doctors say giving credence to that link would lead to a decline in immunization rates and could result in the deaths of hundreds of children. Last year, 74 children died of influenza and more than 300 have died in the last four years, according to the CDC.

Public Health Impact

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Autism: Study Says Thimerosal Mercury Doesn't Have Time To Accrete In Baby Bodies
Wednesday, January 30, 2008 - 25 of the world's top scientists write on the latest developments in space, medicine, biology,earth science, physics and neuroscience.

February’s issue of Pediatrics offers a study saying there is reason to rethink blaming the spike in autism diagnoses on thimerosal, a mercury-containing preservative routinely used in several childhood vaccines until the late ‘90s. The research from the University of Rochester suggests that infants’ bodies expel the thimerosal mercury much faster than originally thought – thereby leaving little chance for a progressive build up of the toxic metal. Some parents and pediatricians believe that the series of thimerosal-containing shots many infants received in the 1990s, when the average number of vaccines kids received increased sharply, had put them at risk for developmental disorders.

Thimerosal, hailed for its bacteria-killing properties, had been a vaccine staple ingredient since the 1930s but when the Environmental Protection Agency announced in 1999 that the cumulative exposure children typically received in vaccines might exceed a safe level for intake based on methyl mercury statistics, public health officials, together with the American Academy of Pediatrics, recommended its removal. “Thimerosal has been used for decades, but the surge in vaccinations caused fear that possible accumulations of ethyl mercury, the kind in thimerosal, might exceed safe levels – at least, when based on the stringent risk guidelines applied to its better-understood chemical cousin, methyl mercury, which is associated with eating fish,” said Michael Pichichero, M.D., professor of Microbiology/Immunology, Pediatrics and Medicine at the University of Rochester and the study’s main author.

Scientists are learning that the two mercury species actually behave quite differently. Previous research conducted in Seattle just a few years ago demonstrated that the ethyl mercury has a more difficult time crossing the blood-brain barrier, posing even less toxic risk than methyl mercury. This is especially telling, since even methyl mercury itself has also proven rather benign at low levels. In fact, just a few years ago, a Rochester study showed that children born to mothers-to-be who ate an average of 12 meals of fish a week – about 10 times the amount that the average U.S. citizen eats – showed no harmful symptoms. And now, the most recent research from Rochester unveils further differences between the two types of mercury: the body rids the kind found in thimerosal more that 10 times faster than it removes the kind one might encounter in a Friday night fish fry.

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Vaccine-autism link debunked, again...

MMR links to autism dismissed by huge study
Tuesday February 5 2008 - There is no evidence to link the MMR vaccination to autism in children, according to a substantial new study published today.

In the biggest review conducted to date, scientists from Guy's Hospital in London, Manchester University and the Health Protection Agency, analysed the blood from 250 children and concluded that the vaccine could not be responsible. The study, which was funded by the Department of Health and is published in the journal Archives of Disease in Childhood, was initiated five years ago and comes a decade after a scare about the vaccination - which protects against mumps, measles and rubella - led to a big drop in the number of children given the jab.

The theory put forward by Dr Andrew Wakefield and colleagues was that the measles virus in the MMR caused bowel disorder and subsequently autism. However, the blood samples taken from all the children in today's study did not support that analysis. The research specifically looked for traces of measles virus in the blood of 250 children who had been given the MMR vaccination, 98 of whom had an autistic spectrum disorder.

The scientists found no difference in levels of measles virus or antibodies between those who had been diagnosed with autism and those who had not. The tests also showed no signs of bowel disorders developing either. The children, aged about 10 years old, had been given the first MMR jab but not all had the booster. The researchers found that those with autism or learning difficulties tended not to have had the second jab, which they say is of concern.

Professor David Salisbury, director of immunisation at the Department of Health, said: "It's natural for parents to worry about the health and wellbeing of their children and I hope this study will reassure them that there is no evidence linking the MMR vaccine to autism." Public health experts will be hoping this study can lay to rest the controversy. The Department of Health stressed the quality of the study and in a statement said it had "linked very careful assessment and diagnosis of a child's condition, with expert analysis of blood samples".

MMR links to autism dismissed by huge study | Society | The Guardian