Federal report says preservative in vaccine may be linked to disease

A vaccine preservative may have contributed to a case of autism, the federal government conceded after years of denying a link.

In its written concession statement, the government said the child had a pre-existing mitochondria disorder that was "aggravated" by her shots, resulting in an autism spectrum disorder (ASD) diagnosis.

Mitochondria are the powerhouses of the cell, converting oxygen and food into energy for every life function.

The news site Huffington Post at www.huffingtonpost.com reported in November that federal officials had confirmed the link to thimerosal Nov. 9.
The government then sealed records of its statement, the Web site reported.

"The vaccinations received on July 19, 2000, significantly aggravated an underlying mitochondrial disorder, which predisposed [the child] to deficits in cellular energy metabolism, and manifested as a regressive encephalopathy [brain disease] with features of ASD," the concession obtained by Huffington Post states.

Mitochondrial disorders are rare, affecting one in every 2,000 to 4,000 people, according to the United Mitochondrial Disease Foundation.
Symptoms include lethargy, poor coordination and problems eating or digesting food.

However, the number of children with autism affected by mitochondrial disorders is around one in five.

With 4,900 thimerosal cases pending in the federal courts, a distinct connection among thimerosal, mitochondrial disorders and autism would have far-reaching implications.

Most vaccines today do not use thimerosal as a preservative, according to a survey by the Johns Hopkins Bloomberg School of Public Health in Baltimore City.

The exceptions include large-batch adult flu vaccines made by some manufacturers.

Autism spectrum disorders are a group of developmental disabilities marked by impaired social interaction and communication and the presence of unusual behaviors and interests, according to the Centers for Disease Control and Prevention.

Many people with ASDs also have unusual ways of learning, paying attention or reacting to different sensations.

In about 10 percent of cases, genetics are a factor, said Dr. Harvey Singer, director of pediatric neurology at Hopkins Children's Hospital in Baltimore City, but the rest remain a mystery.

Doctors make advances against autism

Fourteen years ago, Eric Hollander was one of the psychiatrists who founded the Seaver and New York Autism Center of Excellence at the Mount Sinai School of Medicine to offer specialized care for autism patients and conduct cutting-edge research on the disease.

The big story

April is Autism Awareness Month and a good time to provide the public an overview of a disease that affects one in 150 individuals in the United States.

Who's at risk

Siblings of autistic children seem at higher risk, because autism sometimes runs in families. Recent research suggests that fathers above age 40 are at higher risk of having children with autism, and that birth-related complications and in vitro fertilization may also increase risks for autism.

Children at highest risk are those who fail to develop by certain milestones: those who don't respond when you call their name, who don't share interest in things with others, who have lots of early rituals and routines, and those who fail to develop language.

The demographic group at highest risk is boys. Autism studies show a 4-to-1 ratio of males to females.

"It's not fully known why," says Hollander, though some have suggested that autism is an extreme form of brain function in males. "At a young age, girls are empathizers, more interested in looking people in the eye and responding to social signals," Hollander explains. "Little boys tend to be systemizers who look out and put the world into certain organized patterns."

Signs and symptoms

Currently there isn't a medical test for autism; screening is done through a combination of observing behavior and educational and psychological testing.

Doctors have developed a standard for diagnosis. Before the age of 3, an autistic child must show substantial impairment in the three core symptom domains: profound social deficits, language-based problems, and narrow interests and repetitive behaviors.

Some of autism's associated symptoms include EEG abnormality (seizures), mood swings or irritability, aggression, self-injury, inattention and elements of attention deficit hyperactivity disorder.

Autism can vary greatly from person to person. "Some patients with Asperger's syndrome (an autism spectrum disorder) have a high IQ and language facility," says Hollander, "while other people with autism may have mental retardation and severe deficits in language."

Traditional treatment

"We usually don't talk about cure," says Hollander of the disease, "but we can help people function and reduce their distress."
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Doctors have a wide variety of treatments that can help make the symptoms of autism more manageable. "It's important to get not a single treatment but a package of treatments," says Hollander. "People do best if they can get the right educational setting, the right medicine and social skills coaching." The standard treatments include early intervention, behavioral approaches, educational approaches like specialized schools, social training and support groups that help autistic individuals, their parents and siblings.

Doctors have also made strides in developing medicines. "We're figuring out ways to help patients with social cognition, which allows them to recognize emotion and interact more efficiently with other individuals."

These medicines don't eradicate autism, but "they can decrease overall distress and improve functioning."

There's great variability in what autism patients can do. Some hold important jobs, because they have great math skills for example, but others function at a much lower level. "It's hard for people with autism to live independently, but we try to help them do so as much as possible."

Research breakthroughs

At Mount Sinai, investigators found that several genes contribute to put individuals at higher risk for autism. On the treatment side, researchers are developing medicines that reduce disruptive behavior or help people better understand social interactions. Some of this knowledge comes from observations in animals. For instance, "[the hormone] oxytocin seems to determine social bonding in animals," explains Hollander, "and we're looking to apply this knowledge to humans."

Questions for your doctor

The first question is, "Have you screened my child for developmental delay?" Hollander is a strong advocate for regular and comprehensive screening: "Every child should be screened twice by age 2, even if they're not showing symptoms."

Some parents wonder: "Is autism caused by vaccinations?" Most studies show that vaccines aren't an important factor.

When a child is diagnosed with autism, Hollander advises parents to ask a trio of questions: "What are the other alternatives? What are the peaks and valleys, strengths and weaknesses, of my child? What's the evidence that this particular treatment will work for a child with my child's symptoms?" There isn't only one way to treat autism, and your child may need to try more than one treatment before he or she finds the right one.

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Get a diagnosis. "If there's a delay in the child's development," says Dr. Eric Hollander, "the parents must advocate for the right evaluation."
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Get information - and get connected. "Advocacy groups like Autism Speaks [autismspeaks. org] have increased awareness, raised money for research and connected families with the resources," says Hollander. He also recommends parents check the autism pages available through the National Institute of Mental Health (www.nimh.nih.org).
*
See experts in autism and receive specialized treatment. Autism Speaks has a Family Services directory that allows you to search for specialists by zip code and to find clinical trials.
* Take the long view. "A lot of parents get caught up in this whirlwind that they have to do everything immediately," says Hollander, "but it is a developmental process, and parents have to see this as a long-term proposition. Parents have to try to take care of themselves as well, and keep some sort of general balance."

By the numbers

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1 in 150 children have autism
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1% of boys have autism
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Autism symptoms manifest before the age of 3
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Autism's ratio of boys to girls: 4-to-1
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The CDC estimates that 560,000 children under 21 have a form of autism

Act Seeks To Get Accurate Count Of Autism Epidemic

While a federal study has compiled figures on the autism rate in America, officials are concerned that New York State was left out of the equation. In response to this issue, the Autism Identification and Education Act of 2008 recently was introduced by New York State Assemblyman Jim Conte (R-Huntington Station).


By first identifying all children throughout New York who have autism - a developmental disorder that affects a child's ability to appropriately and effectively communicate - this new legislation aims to help fill in the gaps in services needed for children with autism, provide better training for school district personnel, and offer community organizations financial assistance to provide recreational programs for children with autism and respite for their caregivers.
According to the Centers for Disease Control, autism currently affects one in 150 children. A federal study that was done several years ago attempted to get a more accurate number of children with autism, explained Conte, however, New York State was not a part of that calculation.


"This new legislation will provide for a comprehensive study to identify children that are on the spectrum throughout New York State," said Conte. "Everyone is trying to find ways where we can help families and children and school districts who are caring and working with children with autism." Conte said that the study would be completed by a team from various agencies, including the New York State Health Department, the NYS Office of Mental Retardation and Developmental Disabilities and the NYS Education Department.


"It's hard to get funding for autism if you don't know how many people have autism on Long Island," said Christine Heeren, director of the Long Island Autism Conference. "We keep using the one in 150 number, but that is a national average. We could have one in 50 in Suffolk County for all we know. It's criminal that we don't know for sure. There are four boys on my block with autism alone. That's a rate of about one in 25. We should not be playing a guessing game with our children's lives."
The current data on the number of children with autism is insufficient, said John Gilmore, executive director of the Hicksville-based Autism United, a coalition of service providers and advocacy groups on Long Island and New York City. "You will find two school districts that are approximately the same size and are two miles apart and one may report eight times as many children with autism," he said.
In many cases, but not all, he added, "you really find out that higher income districts tend to have much higher autism rates than lower income districts, which is pretty evident from the statistics we get from the New York State Department of Education and we know the rates are going up, although we have no real accurate idea of how much."


According to Gilmore, without a more accurate count of the number of children with autism, it will continue to be challenging to meet their needs. "It is really impossible to make rational plans - affording the appropriate number of classrooms, hiring therapists, etc.," he explained. "All residential facilities have huge waiting lists. There is clearly an inadequate amount of services and support being provided and it is going to continue to be that way unless we get a better idea of how many children with autism there are."


After much dialogue with parents of children with autism, as well as community organizations that deal with children with developmental disabilities, Conte, who is a member of the New York State Assembly Republican Task Force on Autism, said it was apparent that the school districts require assistance in meeting the needs of autistic students.


"In talking to parents, I have seen that teachers aren't properly trained to deal with autism in general," Conte stated. "But more importantly, you have to know how to deal with that autistic child in particular as an individual - whether the child has high or low functioning autism."


Depending on what students' needs are, which may include anything from having sensory issues to food allergies, training is done more informally with school district personnel "and some do it better than others," he said. "Realize that the school building is not just the classroom teacher, not just the special education or inclusion class; it also includes the bus driver, school cafeteria personnel, and the custodians, who all have to be trained on how to interact with your child."
"I am a very strong supporter of any kind of help that we can give to children with autism and their parents, as well as community organizations, bus drivers and teachers, for example, who work with children who have autism," said NYS Assemblywoman Pat Eddington (WF-Medford). "I think some of the most important work we can do today is to learn more about autism and respect those children who have autism by being able to work with them so we can help them."


The legislation, said Conte, would provide grant money to all school districts so that they could hire individuals who are specifically trained to work with personnel within the school district and the child with autism in the beginning of the school year so that everyone would understand the particular needs of that child.
And finally, said Conte, the legislation would offer some grant money for community organizations to be able to provide for recreational activities and social networks during the summer. "A lot of [the] time, some of these children have a hard time interacting with their peers," he explained, "and it would help if we could get them onto the soccer field or baseball field or involved in other types of recreational activities."


Caring for a child with autism, said Conte, tends to put a lot of strain on the parents and siblings. "We want to be able to help families deal with that and we also want to make sure that the child gets educated to the best of their ability ... not just the reading and the writing but in dealing with total life circumstances because some of these children are going to be able to function and develop typically so we have to make sure they are given the tools they need to live and work in our community successfully," he noted. Ascertaining how many children there are with autism, Conte said, will help to better address the growing needs of children with autism and the community.


The Autism Identification and Education Act of 2008 currently is in the New York State Assembly's Education Committee, and senators from Long Island are being sought to sponsor the bill in the New York State Senate.

Gene for brain connections linked with autism

By Maggie Fox, Health and Science Editor

WASHINGTON (Reuters) - A gene that helps the brain make connections may underlie a significant number of autism cases, researchers in the United States reported on Tuesday.

Disruptions in the gene, called contactin 4, stop the gene from working properly and appear to stop the brain from making proper networks, the researchers reported in the Journal of Medical Genetics.

These disruptions, in which the child has either three copies of the gene or just one copy when two copies is normal, could account for up to 2.5 percent of autism cases, said Dr. Eli Hatchwell of Stony Brook University Medical Center in New York, who led the study.

"That is a significant number," said Hatchwell.

"Generally the mistake that people make is they are looking for one unifying cause for autism, and there is no such thing and there never will be," Hatchwell said in a telephone interview.

He said his finding adds to the list of potential tests for autism, and perhaps treatments for a range of conditions known as autism spectrum disorders.

Hatchwell's team tested 92 patients from 81 families with autism spectrum disorder and compared them to 560 people without autism.

They did a whole genome analysis, looking at the entire DNA map, and found three of the patients had deletions or duplications of DNA that disrupted contactin 4.

They were all inherited from fathers without a history of autism, which can cause severe social and developmental delays and even mental retardation.

This may seem like a small number but millions of people have some type of autism, Hatchwell noted. The U.S. Centers for Disease Control and Prevention estimates that 1 in every 150 children has autism or a related disorder such as Asperger's syndrome, which is marked by often mild social awkwardness.

"Autism is a syndrome. These individuals have all been grouped together as having the same thing. There will be many, many dozens if not hundreds of different causes," he said.

MUTATION PRESENT AT BIRTH

Contactin 4 is involved in the development of axons, which are the long strings that connect one neuron to another. Other

disruptions of this gene are known to cause developmental delay and mental retardation.

The genetic mutation is present at birth, Hatchwell said.

"In each case a father who was reported as normal had the same thing," he added.

"This happens in genetics all the time. Often there are cases in which someone is reported as normal. They pass it on to their child, who has severe disease."

It could be the fathers had mild Asperger's or some other condition that was never diagnosed when they were children. Hatchwell noted that parents today in the United States are far more likely to seek a diagnosis for autism spectrum disorder in their children than parents were in past generations.

This is controversial, with some advocates and experts saying autism and related disorders have become more common in recent years, and others saying there is no evidence this has occurred.

"My personal view is that it is not becoming more prevalent," said Hatchwell. "If a parent has a child with some sort of learning problem, if they get labeled as autism they get all sorts of help at school," he added.

Hatchwell has helped found a biotechnology company called Population Diagnostics Inc. to develop DNA based pre-symptomatic and early detection tests for autism, Alzheimer's, Parkinson's, Type 2 diabetes and other genetic diseases.

In 2004 researchers at Yale University found one child with developmental delays who had a deleted copy of contactin 4. In January, they and two other teams linked a gene called contactin associated protein-like 2 with some cases of autism, and a third team found a stretch of DNA on chromosome 16 that they said may cause 1 percent of autism cases.

Tracing autism's roots

Move over vaccines. The most promising research into the disorder is emerging from the quest for the genes that underlie it.

By David Stipp, contributor

Do vaccinations cause autism?

Despite the fact that one major study after another has answered no since the issue came to the fore around 2000, 54% of parents of autistic children in a 2006 survey said the answer is yes. In fact, the parents named vaccines more frequently than any other suspected cause.

It's likely that even more parents blame vaccines now in the wake of the recent brouhaha about 9-year-old Hannah Poling. The government agreed that her family was entitled to a settlement from a federal vaccine injury fund based on their claim that childhood vaccinations aggravated a rare metabolic disorder in Hannah, triggering autism symptoms.

Anti-vaccine advocates hailed the decision as unprecedented support for their view that either thimerosal, a mercury-based preservative once widely used in vaccines, or the vaccines themselves, are behind many cases of the brain disorder.

Federal health officials countered that the Poling case says nothing in general about autism and vaccines - they're concerned about parents refusing immunizations for their kids. Hannah, they noted, has been diagnosed with a genetic defect in her mitochondria - energy dynamos within cells. The mitochondrial disorder can cause a form of autism, and its symptoms often aren't apparent until stress, such as a fever, overtaxes energy-deficient cells. Vaccinations occasionally induce fever, hence the ones Hannah got as a toddler may have combined with her disorder to bring on signs of autism. Or they might not have - Hannah had a history of ear infections, and the associated fever might have aggravated her mitochondrial disorder.
Complex genetics

The ruckus highlights one of the great ironies surrounding autism: While anti-vaccine groups and thousands of anxious parents are fixated on a single environmental factor - vaccines - as a possible cause of autism, most of the exciting insights on its causes in recent years have come from the study of its complex genetic underpinnings.

The quickening quest for genes underlying autism promises both to improve diagnosis and treatment, and to help resolve burning questions about the disorder, such as why surveys suggest it is three times more prevalent in New Jersey than in Alabama.

The central role genes play in autism became manifest after scientists realized about two decades ago that there are different forms of the disorder involving varied sets of genes. Called "autism spectrum disorders," or ASDs, they include Asperger's syndrome, which causes social deficits but not the cognitive delays usually associated with autism.

Using this broad definition in studies of twins, researchers have repeatedly shown that if one identical twin is diagnosed with autism, the other has about a 90% chance of developing an ASD. Geneticists have concluded from such studies that most, and perhaps the great majority, of ASDs involve a genetic component.

There is a new wrinkle to the genetic research however. Based on family studies, scientists have long characterized autism-linked genes as "heritable." But recent research shows a surprisingly large number of mutations tied to autism are "de novo" glitches that arise spontaneously in children whose parents don't carry them.

Such spontaneous mutations have come to light by studying so-called "structural changes" in the genome, which, if DNA's chemical letters were arranged in book form, would consist of largish mistakes such as duplicated and missing pages. A recent study that got much less attention than the Poling story showed that 7% of kids with autism carry structural changes not found in their parents, compared with less than 1% of such glitches seen in the general population.

"This is really exciting, and a lot of people haven't picked up on it yet," says geneticist Stephen Scherer, a co-author of the study at the Hospital for Sick Children in Toronto.
Spontaneous mutations

It's likely that many more such changes will be linked to ASDs as researchers examine a wider array of cases with new gene-scanning tools. Some researchers even theorize that the majority of autism cases stem from such spontaneous mutations.

Why would genes linked to autism be so mutation-prone?

Consider a mutation on chromosome 16 recently tied to autism. The glitch is in a DNA region containing so-called "morpheus" genes, which changed very rapidly as evolution produced ever brainier apes. The genes may well help shape cognitive capacities specific to apes and humans, including ones affected by autism.

Since fast mutation goes hand in hand with fast evolution, it's likely that the new autism-linked gene lies in a DNA "hotspot" prone to spontaneous mutation. In short, the same phenomenon that helped to rapidly evolve our braininess may contribute to autism.

For all geneticists' excitement about such discoveries, few if any of them rule out environmental contributors to autism, such as exposure to certain drugs, chemicals or infections during pregnancy. As Hannah Poling's case suggests, environmental factors may conspire with predisposing genes to bring on autism.

But pinpointing the culprits among the tens of thousands of possible environmental factors - everything from air pollutants to ultrasound examinations during pregnancy to multiple immunizations given to kids all at once - is a monumental problem that could take decades to solve with traditional human studies. Parents of autistic children can't wait that long.

But gene research is helping on this front too, by speeding the quest for environmental contributors. For instance, researchers are developing various mouse models of autism by mimicking mutations linked to the disorder in the rodents. Such animals are very useful for testing suspected environmental contributors to autism.
Early intervention

Genetics research should also help explode the myth that the effects of ASD-susceptibility genes are set in stone. By helping to identify the disorder during infancy, genetic tests promise to enable early intervention that wards off some of autism's worst effects. (Autism usually isn't diagnosed until speech delays or social deficits surface after infancy.)

By teaching parents how to bolster social engagement in babies with ASD-susceptibility genes - for instance, by removing distracting objects so that a parent's face is the most salient object in a baby's visual field - "you might even be able to prevent the full syndrome from emerging," says Geri Dawson, chief science officer of Autism Speaks, an advocacy group based in New York. Toronto's Scherer adds that his team's genetic research has already led to early interventions in several cases involving families participating in studies.

Tricky questions remain about interpreting tests for autism-linked genes. But several companies, such as Mukilteo, Wash.-based CombiMatrix, France's IntegraGen SA and Melville, N.Y.-based Population Diagnostics Inc., have already introduced such diagnostics or announced plans to develop them.

Over time such tests will enable ever more precise classification of autism cases according to underlying causes. Among other things, that should help researchers sort out what's driving the extraordinarily high prevalence observed in areas such as New Jersey. Even better, it will provide a way to detect the special vulnerabilities of kids like Hannah Poling before symptoms appear - and perhaps even keep such children out of harm's way.

Autism Campaign Launches In The South East, UK

Thousands of adults with autism in the South East are isolated and ignored, unable to access the support they need, and are often completely dependent on their families. These are the findings of The National Autistic Society (NAS) I Exist report, which has its South East launch on Thursday 17th April at the BT Centre in London. Media are welcome to attend.

Hosted by the South East regional Partners in Autism, the launch of I Exist signals a new phase in the NAS think differently about autism campaign. The report reveals that nearly two thirds (63%) of adults with autism in England do not have enough support to meet their needs.

Sarabjit Singh, an adult with Asperger syndrome from Hounslow said: "I had a lot of trouble when I was younger trying to 'fit in' and learn the rules; I was finally diagnosed when I was 31, but it's still a struggle to get the help and support I need on a day-to-day basis. The professionals I turned to for help weren't trained in autism and this lack of understanding just makes the situation worse - why should anyone have to get to the point when they are in crisis before health and social services will acknowledge them? Adults with autism have so much to offer, they just need to be given the support and the opportunity - the right help can make a world of difference"

Speakers at the event include Sarah Hewitt, an adult with Asperger syndrome; Murial Zeffert, mother of an adult with autism from Harrow; Jean Rose of the Sussex Autistic Community Trust; and Richard Lane of the Bromley Autistic Trust. London artist David Downes, who has Asperger syndrome, will also be displaying some of his work.

Based on the largest ever survey on the experiences of adults with autism and their families in England, the I Exist report found that:

- Nearly two thirds of adults with autism do not have enough support to meet their needs.
- 92% of parents are worried about their son or daughter's future when they are no longer able to care for them.
- 61% of adults with autism rely on their family financially and 40% live with their parents.
- 60% of parents believed that a lack of support has led to higher support needs later on.
- At least 1 in 3 adults with autism are experiencing severe mental health difficulties due to a lack of support.

Robert Pritchett, NAS South East regional director, who will be introducing the event said: "Autism is a serious, lifelong and disabling condition. Without the right support, it can have a devastating effect on individuals and their families. It does not have to be like this - 'I Exist' is the message from adults with autism who want their needs understood and the barriers to support removed. The right help at the right time can have a profound effect - we are calling on the government to think, act, and transform lives".

The launch event will take place from 4pm - 6pm on Thursday 17th April at BT Centre, 81 Newgate Street, London EC1A 7AJ

Notes

- South East regional Partners in Autism includes: Autism London, Berkshire Autistic Society, Bromley Autistic Trust, Brookdale Care, Cygnet Health Care, Eagle House Group, Essex Autistic Society, Hampshire Autistic Society, Hillingdon Manor School, Hill Park Autistic Trust, Jigsaw School, Parents of Autistic Children Together, Prior's Court Foundation, Priory Group, Sussex Autistic Community Trust, and Sussex Autistic Society.

- The statistics are for England only. Separate reports were produced for Scotland and Wales. In England, 1,412 adults with autism (18 or over) and their families/carers responded to the survey.

- Autism is a lifelong developmental disability that affects how a person communicates with, and relates to, other people. It also affects how they make sense of the world around them. It is a spectrum condition, which means that, while all people with autism share certain difficulties, their condition will affect them in different ways. Some people with autism are able to live relatively independent lives but others may have accompanying learning disabilities and need a lifetime of specialist support. People with autism may also experience over- or under-sensitivity to sounds, touch, tastes, smells, light or colours.

- Asperger syndrome is a form of autism. People with Asperger syndrome are often of average or above average intelligence. They have fewer problems with speech but may still have difficulties with understanding and processing language.

The National Autistic Society is the UK's leading charity for people with autistic spectrum disorders and their families. Founded in 1962, it continues to spearhead national and international initiatives and provide a strong voice for all people with autism. The NAS provides a wide range of services to help people with autism and Asperger syndrome live their lives with as much independence as possible.

The NAS relies on the support of its members and donors to continue its vital work for people with autism. To become a member, make a donation or to find out more about the work of the NAS, visit the NAS website http://www.autism.org.uk or call the NAS donation line 08702 33 40 40, (national rates apply).

The NAS Autism Services Directory is the UK's most comprehensive directory of services and events for people with autism. Visit http://www.autism.org.uk/autismdirectory to find autism services and support networks in your area.

Training People With Autism To Recognize Faces

Researchers might have gained insight into why people with autism have difficulty remembering faces and distinguishing facial emotion. In an ongoing study, Dr. Nim Tottenham, assistant professor of psychology in psychiatry at Weill Cornell Medical College, is examining how normal and autistic brains behave when viewing a face.

While their brain is scanned in an fMRI machine, subjects look at a computer screen displaying different faces with various facial expressions. Each subject is motivated by a visual cue -- a star symbol -- to draw his or her attention to either the eyes or mouth on each face.

Facial recognition areas in the brain are recorded by the fMRI, and eye movements are tracked with a camera. Early data in both healthy and autistic subjects show that only when a subject looks at the eyes does the facial recognition area of the brain become active.

The research team hopes that early intervention with this behavioral technique in autistic children might help to train the brain to focus on others' eyes in order to improve facial recognition and facial emotion early in life.

Sticky Blood Protein Yields Clues To Autism

Many children with autism have elevated blood levels of serotonin -- a chemical with strong links to mood and anxiety. But what relevance this "hyperserotonemia" has for autism has remained a mystery.


New research by Vanderbilt University Medical Center investigators provides a physical basis for this phenomenon, which may have profound implications for the origin of some autism-associated deficits.

In an advance online publication in the Journal of Clinical Investigation, Ana Carneiro, Ph.D., and colleagues report that a well-known protein found in blood platelets, integrin beta3, physically associates with and regulates the serotonin transporter (SERT), a protein that controls serotonin availability.

Autism, a prevalent childhood disorder, involves deficits in language, social communication and prominent rigid-compulsive traits. Serotonin has long been suspected to play a role in autism since elevated blood serotonin and genetic variations in the SERT have been linked to autism.

Alterations in brain serotonin have also been associated with anxiety, depression and alcoholism; antidepressants that block SERT (known as SSRIs, or selective serotonin reuptake inhibitors) block SERT's ability to sweep synapses clean of serotonin.

Working in the lab of Randy Blakely, Ph.D., Carneiro was searching for proteins that interact with SERT that might contribute to disorders where serotonin signaling is altered.

"Levels of SERT in the brain are actually quite low, so we decided to see what progress we could make with peripheral cells that have much higher quantities," said Blakely, the Allan D. Bass Professor of Pharmacology and director of the Vanderbilt Center for Molecular Neuroscience. "This took us to platelets."

In platelets, SERTs accumulate serotonin produced in the gut. SSRIs or genetic deletion of SERT in animals prevents serotonin uptake in the platelet.

"Prior research had fingered the integrin beta3 gene as a determinant of blood serotonin levels and, independently, as a risk factor for autism," Blakely said.

In the current study, Carneiro identified a large set of proteins that "stick" to SERT, presuming they might control SERT activity. One of these turned out to be integrin beta3.

Once they confirmed a physical relationship between the two proteins, Blakely's team investigated whether the interaction can change SERT activity. They found that cells lacking integrin beta3 exhibit reduced serotonin uptake and that integrin beta3 activation or a human integrin beta3 mutation greatly enhances serotonin uptake.

"We found that integrin beta3 can put the serotonin transporter into high gear," said Blakely. Notably, Edwin Cook, M.D., at the University of Illinois at Chicago and a co-author on the study, had shown that the same integrin beta3 mutation that elevates SERT activity also predicts elevated blood serotonin.

"Most investigators studying this integrin beta3 mutation have focused on how its high activity state changes platelet clotting and never looked at its impact on serotonin levels or SERT function," explained Carneiro. "Now they have a reason to."

"We don't think the platelet itself contributes to autism," said Blakely, "but rather we believe that the brain's serotonin transporter may be controlled by integrin proteins in a very similar manner."

Carneiro and Blakely believe that too much SERT activity imposed by abnormal integrin interactions could restrict availability of serotonin in the brain during development, as well as in the adult.

"What is even more striking is that this is the second time we have found elevated SERT activity associated with autism," said Blakely. In a 2005 study, Blakely and Vanderbilt collaborator James Sutcliffe, Ph.D., identified mutations in the SERT gene that triggered elevated SERT activity.

Carneiro is now hot on the trail of integrin interactions with brain SERT as well as engineering mice that express human integrin beta3 mutations.

At a February Keystone Conference, Blakely described preliminary studies with mice that his lab has engineered to express hyperactive SERT mutations. "Together, these new animal models offer an unprecedented opportunity to peel away the complexity of autism and possibly develop new therapies," he said.

This research also may uncover new ways of treating depression. "Current antidepressant mechanisms still essentially work in the same way they did 25 years ago -- by targeting transporter uptake of neurotransmitter directly," Carneiro said. "Now we may have a completely new way to go about it."

These new studies represent an early success of Vanderbilt's recently established Silvio O. Conte Center for Neuroscience Research, an NIMH-sponsored program designed to investigate the genes and proteins that control serotonin signaling during development and in the adult, Blakely noted. The research was also supported by the National Alliance for Research on Schizophrenia and Depression (NARSAD).

Virtual Reality Teaches Autistic Children Street Crossing, Study Suggests

Recent research conducted at the University of Haifa found that children with autism improved their road safety skills after practicing with a unique virtual reality system. "Children with autism rarely have opportunities to experience or to learn to cope with day-to-day situations. Using virtual simulations such as the one used in this research enables them to acquire skills that will make it possible for them to become independent," said Profs. Josman and Weiss, from the Department of Occupational Therapy at the University of Haifa.


The independence of children with autism depends on their receiving treatment in natural settings. One of the main problems they face is their inability to learn how to safely cross the street, a necessary skill for independent living. While acquiring this skill could greatly improve these children's independence, most of the methods for teaching street-crossing have been designed for use within the classroom, and they have been shown as insufficiently effective among autistic children.

The best way to teach children with autism skills is through repeated practice in natural settings, but the danger of learning to cross the street in a natural setting obviously prohibits this method. This is where virtual reality is very effective, as demonstrated by the research team which included Hadass Milika Ben-Chaim, then a student in the Occupational Therapy master's program and Shula Friedrich, the principal of the Haifa Ofer School for Children with Autism as well as Profs. Josman and Weiss.

Six autistic children, ages 7-12, spent one month learning how to cross virtual streets, to wait for the virtual light at the crosswalk to change and to look left and right for virtual cars using a simulation programmed by Yuval Naveh. The children in the study showed substantial improvement throughout the learning process: at the beginning of the study, the average child was able to use the 2nd level of the software while by the end they mastered the 9th level, which is characterized by more vehicles traveling at a higher speed.

However, the research team was not looking to teach a virtual skill; they wanted to see if the children were able to transfer the skills they had mastered in a virtual environment to the real world. A local practice area with a street and crosswalk, complete with traffic signals, was used for this purpose. The children's ability to cross the street safely was tested in this area evaluating, for example, whether they stopped to wait on the sidewalk or waited for a green light before crossing. The children were brought to the practice area before and after their virtual learning. Here too, the children exhibited an improvement in their skills, following the training on the virtual street, with three of the children showing considerable improvement.

One of the study participants, 16 years old, had participated in the past in a road safety program in the school, but he was not able to learn how to cross the street safely. Following learning the skill in a virtual environment, he learned how to stop on the sidewalk before stepping into the street, to look at the color of the traffic light, to cross only when the light was green and to cross without waiting too long.

"Previous studies have shown that autistic children respond well to computer learning. In this research we learned that their intelligence level or severity of their autism doesn't affect their ability to understand the system and therefore this is an important way to improve their cognitive and social abilities," summarized Profs. Josman and Weiss.

Children With Autism May Learn From 'Virtual Peers'

Using "virtual peers" -- animated life-sized children that simulate the behaviors and conversation of typically developing children -- Northwestern University researchers are developing interventions designed to prepare children with autism for interactions with real-life children.


Justine Cassell, professor of communication studies and electrical engineering and computer science, recently presented a preliminary study on the work at a meeting of the American Association for the Advancement of Science.

"Children with high-functioning autism may be able to give you a lecture on a topic of great interest to them but they can't carry on a 'contingent' -- or two-way -- conversation," said Cassell, director of Northwestern's Center for Technology and Social Behavior.

Cassell and researcher Andrea Tartaro collected data from six children with high-functioning autism aged 7 to 11 as they engaged in play during an hour-long session with a real-life child, and with a virtual peer named Sam.

In an analysis of those interactions, they found that children with autism produced more and more "contingent" sentences when they spoke with the virtual peer, while their sentences did not become increasingly contingent when they were paired with the real-life children.

"Certainly we're not saying that virtual peers make the best playmates for children with autism," said Tartaro. "The overall goal is for the children with autism to generalize the skills they learn in practice sessions with virtual peers to meaningful interactions with real-world children."

Nor are Northwestern researchers saying they can teach "contingency" -- appropriate back and forth conversation -- in a single session. But their findings hold promise that virtual peers can be useful in helping children with autism develop communication and social skills.

And virtual peers have some distinct advantages over real-life children when it comes to practicing social skills. For starters, children with autism often like technology. "It interacts to us," said one child with autism upon first meeting a virtual peer.

What's more, said Cassell, virtual peers don't get tired or impatient. "We can program their conversation to elicit socially-skilled behavior, and we can vary the way that they look and behave so children with autism are exposed to different kinds of behavior."

Cassell and Tartaro's study is part of larger efforts taking place in the Articulab, the Northwestern University laboratory where Cassell and colleagues explore how people communicate with and through technology.

In the Articulab, Cassell, who was trained as a psychologist and linguist, and Tartaro are teaming up with psychologist Miri Arie to develop assessment and intervention procedures that they hope will give them a better understanding of peer behaviors of children with autism.

A major challenge for children with autism is learning the rules of social behavior that typically developing children seem to learn intuitively.

"Although children's play appears spontaneous and wild, it follows certain basic social rules," said Arie. "We hope virtual peers like Sam will allow children with autism to practice the rules behind joining a game, holding a conversation and maintaining social interaction. Then they can apply their newly acquired skills to real-life situations."

Parents Follow Pediatrician Advice On Administering MMR Vaccinations

ScienceDaily — News stories about an allegedly harmful link between the mumps, measles and rubella vaccine and the onset of autism had little effect on whether U.S. parents immunized their children, according to a review of immunization records and news stories. Parents' decisions were more likely influenced by recommendations from their child's pediatrician, the researchers said.


Researchers from The Children's Hospital of Philadelphia and The University of Louisville School of Medicine report on the review of data in the April issue of the journal Pediatrics. The data was collected from public-use files of the National Immunization Survey from 1995 to 2004. It compared immunization records of 215,643 children ages 19 months to 35 months with spikes in news stories about the MMR vaccine and autism. The news accounts were gathered from a database known as LexisNexis, which tracks newspaper, television and radio news.

The number of children not receiving the mumps, measles and rubella vaccine (known as MMR) increased after February 1998, when a scientific study proposing a link between the MMR vaccine and autism appeared in the British journal The Lancet. After two years, the U.S. numbers of unvaccinated children then declined and did not rebound when the MMR-autism link started to receive widespread coverage in the mainstream press, suggesting a limited influence of news media on MMR immunization rates in the U.S.

"If providers become more cautious during a period of controversy, then public health officials should insure providers are given timely advisories and access to credible recommendations," said Michael J. Smith, M.D, lead author of the study while formerly at Children's Hospital. Smith is now a pediatric infectious disease specialist at the University of Louisville School of Medicine. "Our findings suggest that physicians may have been an important buffer against the potential negative impact of media coverage of immunization controversies."

The Lancet study, led by Andrew Wakefield, was flawed and later discredited, although widely publicized in the United Kingdom. National rates of MMR immunization in Britain fell from 92 percent to 73 percent following publication, resulting in measles outbreaks and the first measles death in the U.K. in more than a decade.

The Children's Hospital study set out to provide the first population estimates of MMR vaccination rates in the U.S. following publication of the Wakefield study and its subsequent media coverage. According to the data, nearly 1 in 50 U.S. children missed the opportunity for MMR immunization in the two years following the Wakefield publication. In private physician practices non-immunization rose as high as 1 in 40 children.

Significant mainstream media coverage of the MMR-autism controversy did not begin in the U.S. until almost two years after the Lancet paper. By that time, the number of children not receiving their MMR vaccinations was returning to the pre-Wakefield study level. Children were identified as intentionally missing MMR vaccinations if they were up to date for other childhood immunizations including hepatitis B, polio, diphtheria, tetanus, pertussis and Haemophilus influenzae, but not MMR. The current study looked at immunization rates through 2004.

The decision to immunize children is influenced by three things: the parents' willingness, the health care provider's attitude and input toward guiding the decision, and the vaccine's availability. Since there was no supply shortage during the study period, the decline can only be attributed to either the parents' or the health care provider's reluctance to vaccinate. Some medical providers, made aware of the Wakefield study, may initially have become hesitant to administer the MMR vaccine, said the authors.

"The lesson for the public health community may be that the willingness to immunize a child is a story played out in the examination room during private conversation between the doctor and family," said Smith. "Updating the doctor with the most credible information and with strategies for discussing vaccine safety with parents may be the most efficient way to guarantee successful immunization practices in the face of increasing amounts of often unreliable and misleading information."

Co-authors in the study are Susan S. Ellenberg, Ph.D., from the University of Pennsylvania School of Medicine, Louis M. Bell, M.D. and David Rubin, M.D., MS.C.E, at The Children's Hospital of Philadelphia.

No Link Between Measles, Mumps, Rubella Shot And Autism Spectrum Disorders

ScienceDaily — There is no evidence for a link between the MMR (measles, mumps, rubella) jab and autism, finds research published ahead of print in the Archives of Disease in Childhood.



MMR has been linked to the development of autism, following the publication in 1998 of research on 12 children, which has since been discredited.

The prevalence of autism spectrum disorders ranges from 6 to 12 cases per 1000 children, depending on how the diagnostic criteria are applied.

The findings are based on a community sample of almost 250 children aged between 10 and 12, born from a population of 57 000, born between 1990 and 1991 in one area of Southern England.

The sample comprised 98 children who had an autism spectrum disorder, and two comparison groups: 52 children with special educational needs, but no evidence of autism spectrum disorders, and 90 children who were developing normally.

Some of the children with autism had experienced a set-back or regression early in their development. All the children had been vaccinated against MMR, but not all of them had been given both doses.

Blood samples were taken, to check for the presence of persistent measles infection, or an abnormal immune response, indicated by circulating measles virus or increased antibody levels.

Results of the blood sample analysis showed that there was no difference in circulating measles virus or antibody levels between the two groups of children.

This finding was not affected by whether or not the child had received both MMR doses or whether or not they had regression.

Furthermore, there was no evidence of bowel symptoms (enterocolitis) among the autistic children, irrespective of whether or not they had regression.

Children who were autistic and those with special educational needs were less likely to receive the second dose of MMR, possibly reflecting parental concern about vaccination following the diagnosis of a developmental abnormality.

The authors point out that theirs is now the third, and largest, study that has failed to show a link between the MMR jab and autism.

Rise In Autism Is Related To Changes In Diagnosis, New Study Suggests

ScienceDaily (Apr. 9, 2008) — New research suggests that many children diagnosed with severe language disorders in the 1980s and 1990s would today be diagnosed as having autism. The research supports the theory that the rise in the number of cases of autism may be related to changes in how it is diagnosed.



Professor Dorothy Bishop, a Wellcome Trust Principal Research Fellow at the University of Oxford, led a study which revisited 38 adults, aged between 15-31, who had been diagnosed with having developmental language disorders as children rather than being autistic. Professor Bishop and colleagues looked at whether they now met current diagnostic criteria for autistic spectrum disorders, either through reports of their childhood behaviour or on the basis of their current behaviour. The results are published this month in the journal Developmental Medicine & Child Neurology(1).

Developmental language disorders, which include specific language impairment, are diagnosed when a child has unusual difficulty in his or her grasp of the spoken language, despite normal development in other areas. This may range from a child who has very limited ability to produce or understand spoken sentences, to one who does speak in long and complex utterances, but nevertheless has problem communicating effectively because of problems in conveying a point or grasping what others mean.

Autistic spectrum disorders, which include autism and Asperger syndrome, are developmental disorders affecting how a person communicates with and relates to other people and how they make sense of the world around them.

Participants in the study were drawn from a pool of children who had participated in a series of studies of developmental language disorder conducted during the period 1986 to 2003 and about whose conditions detailed information was known. All attended special schools or classes for children with language impairments, and would have been diagnosed by educational psychologists, paediatricians or speech therapists as having developmental language disorders and none had previously been diagnosed as autistic. However, when reassessed by Professor Bishop and colleagues using current criteria, around a quarter were identified as having autistic spectrum disorder.

In recent years, the criteria for diagnosing developmental language disorders and autism have changed. This has coincided with a marked rise in the rates of diagnosis of autism. According to the Special Needs and Autism Project(2), the figure until the 1990s was widely accepted as being about 5 people per 10,000; even using the narrowest definition of autism, this rose to almost 40 in 10,000 by 2006

There are two main hypotheses to explain this rise: the "autism epidemic" hypothesis and the "diagnostic substitution" hypothesis. Whilst the former says that the rise is genuine, the latter maintains that the true prevalence of the disorder is constant but that changes in diagnostic criteria mean that more children are being diagnosed as autistic. The latter theory is supported by a UK study(3) using the General Practice Research Database, which found that the rise in autism was mirrored by a decline in frequency of language disorders, and now by Professor Bishop's study.

"Our study shows pretty direct evidence to support the theory that changes in diagnosis may contribute towards the rise in autism," says Professor Bishop. "These were children that people were saying were not autistic in the 1980s, but when we talk to their parents now about what they were like as children, it's clear that they would be classified as autistic now.

"Criteria for diagnosing autism were much more stringent in the 1980s than nowadays and a child wouldn't be classed as autistic unless he or she was very severe. Now, children are being identified who have more subtle characteristics and who could in the past easily have been missed."

However, Professor Bishop cautions against using the results to suggest that the prevalence of autism is not genuinely rising.

"We can't say that genuine cases of autism are not on the increase as the numbers in our study are very small," she says. "However, this is the only study to date where direct evidence has been found of people who would have had a different diagnosis today than they were given fifteen or twenty years ago."

Research May Provide Insight into the Biological Causes of Autism

Autism Speaks Spearheads Collaborative Grant with the Allen Institute for Brain Science and Leading Autism Expert to Analyze Frontal Lobe Microstructure in Autism


NEW YORK, NY (April 2, 2008) – Autism Speaks, the nation's largest autism advocacy organization along with the Allen Institute for Brain Science and one of the country's leading autism researchers will join forces on a new research grant that will examine the architecture of the autistic brain. Led by Eric Courchesne, Ph.D., Professor of Neurosciences at the University of California, San Diego, School of Medicine and Director of UC San Diego's Autism Center of Excellence, the grant will allow scientists to examine molecular markers of genetic activity in the brain of patients with autism, providing insight into the biological causes that underlie the disorder.

This unique study analyzing frontal cortex microstructure is aimed at identifying the underlying cellular and molecular defects in the autistic brain. “An extensive study of this type has never been attempted in autism,” explained Dr. Sophia Colamarino, Vice President of Research for Autism Speaks. “This could give us the very first window into brain development in autism, something about which we know virtually nothing.”

The collaborative effort builds on the discovery by Dr. Courchesne and others that autism involves sudden, excessive brain growth during the first two years of life. The abnormal overgrowth is especially pronounced in brain regions, such as the frontal cortex, that regulate social, emotional and language communication.

"Such abnormal early brain overgrowth very likely triggers autistic behavior in infants and toddlers, and so the next major step is to discover the reason for this brain overgrowth," said Courchesne. "Once we pinpoint the specific brain cells and genes involved in the abnormal growth, it will be possible to see more clearly what is causing autism, which will more rapidly lead to novel biomedical interventions to improve the outcome for each child."

To discover the specific brain cells and genes that disrupt the growth and formation of these critical early circuits, the team will use advanced technology developed at the Allen Institute that maps in exquisite detail the precise locations in the frontal cortex where specific genes are most active inside cells. Analyses will be done at both the Allen Institute and the UCSD Autism Center for Excellence. The data from the project will ultimately be made publicly available on the Web to help accelerate progress in autism research by scientists worldwide.

“The resources of the Allen Institute for Brain Science will allow us to better understand how specific genes that regulate brain development contribute to autism,” said Autism Speaks Chief Science Officer, Geri Dawson, Ph.D. “We hope that these discoveries will provide clues that will lead to new approaches to diagnosis and treatment of autism.”

As a child's brain develops, newly formed brain cells migrate systematically to the appropriate locations in the frontal cortex of the brain, and disruptions in this process can result in subsequent brain dysfunction. Knowing if particular brain cells go to the right place requires a clear way to identify them, like a molecular fingerprint. The Allen Institute has characterized an extensive library of gene markers for specific populations of cells in the cortex. The researchers will study these markers to determine if different cell populations are present in the correct proportions and in the right locations within the cortex.

This collaboration represents the first time the Allen Institute will apply its high-throughput methodology and extensive cortical marker panels derived from the Allen Brain Atlas—Mouse Brain project to characterize human tissue from any disorder. Project leader for the Allen Institute will be Ed Lein, Ph.D., Director of Neuroscience.

“The Allen Institute's goal is to fuel discovery and promote innovation for researchers worldwide, and we're pleased to be collaborating with Autism Speaks and Dr. Courchesne to advance scientific knowledge of the causes of autism,” said Elaine Jones, Chief Operating Officer at the Allen Institute for Brain Science.

The team hopes to discover whether there is an excess number of any particular type of brain cell, or whether some specific cell types are missing or abnormally located. This research will use tissue from autistic and control groups provided by the NICHD Brain and Tissue Bank for Developmental Disorders in Maryland as well as Autism Speaks' Autism Tissue Program. Dr. Colamarino concluded, “We have a unique opportunity to look at the autistic brain with finer resolution than has previously been possible. This has the potential to be a very powerful technique for understanding how brains differ in individuals with autism.”

Advancing Clinical Practice Through Recognition of Autism Subtypes

To the well-informed autism community, the remarkably different ways in which autism may affect one individual from the next is perhaps noting the obvious . Beyond the core domains of autism, parents know all too well that their child may have a host of accompanying gastrointestinal problems as one of their major issues, while others may report sleep difficulties as a significant factor – and the list certainly doesn't end there. Increased awareness and study of this phenomenon may one day point to a multiplicity of underlying causes or potentially just different presentations of a handful of the same causes. One thing for certain is that this heterogeneity presents a real challenge for clinicians in the field in terms of diagnostic and treatment concerns. Comprehending and describing various subgroups of autism might be a way to advance the field of autism research and inch us closer toward efficiently prescribed treatment strategies.

As basic research advances our knowledge of autism, this needs to be translated into clinical practices. Two recent articles underscore the heterogeneity of autism and the importance of recognizing different types of autism in terms of how the individuals receive treatment as well as vigilance for concurrent issues which may arise. The first, "Autism Spectrum Disorders: Concurrent Clinical Disorders," examines potential clusters of co-morbid clinical conditions. The second, "Genetics Evaluation for the Etiologic Diagnosis of Autism Spectrum Disorders," outlines the diverse genetic factors which play into different autism spectrum disorders, as well as prescribes a template for evaluating potential genetic etiologies. Both point to the need for future prospective studies designed to better understand the phenomenon.

Published in the Journal of Child Neurology, the first of these articles examines a wide variety of concurrent medical and psychiatric conditions in a group of children with autism spectrum disorders. Amongst these are gastrointestinal disorders, food intolerance, immune dysregulation, sleep disorders, seizures, depression, and aggressive/self-injurious behaviors. More than half of the participating children exhibited sleep disorders and food intolerance at some point in their lives.

Many of these children had more than one co-occurring condition - gastrointestinal issues in addition to sleep dysfunction, for example. The study investigates the possibility of existing common pathophysiologic causes which result in "subgroups" of autism spectrum disorders which share clusters of symptoms. Indeed, an association was found between sleep disorders, gastrointestinal dysfunction, and mood disorder. Similarly, an association between food intolerance and gastrointestinal dysfunction was found. The existence of a mood disorder was found to be associated with the development of aggressive or self-injurious behaviors. These associations suggest that one concurrent condition may be responsible for the other, or that they potentially stem from the same root cause. Recognition of these clusters of conditions may advance a specific therapeutic strategy, as treatment aimed at a primary cause of multiple conditions would be more effective than applying symptomatic control to those that crop up.

With the incidence of autism spectrum disorders increasing over the last 10 years, referrals to clinical geneticists to find an underlying cause is also experiencing a tremendous upswing. The second article, published in the journal Genetics in Medicine, prescribes a template for a tiered evaluation approach for these clinicians to utilize when evaluating an individual with autism. Due to the recent explosion of genetic findings in autism, there are now many known genetic factors which lead to autism-like syndromes. With this in mind, and with the ever growing knowledge of genetic evaluation techniques, the authors are assisting the clinical community by proposing a consistent approach to clinical examination to increase the yield of etiologic genetic testing.

It is estimated that currently, of those who undergo thorough evaluation, only 15% have an underlying cause identified. As this testing becomes more and more commonplace, the tiered approach outlined in this paper, which would evaluate known genetic conditions as well as various metabolic and brain structural factors, might increase this yield to around 40%. The cost and time required (in excess of six months, in some cases) to complete an exhaustive evaluation are factors to consider. However, accurately pinpointing a cause would help to alleviate parental anxiety, shine light on any associated medical conditions and/or environmental interplay, as well as provide a starting point for family and care providers in applying appropriately tailored treatment.

Together, these studies highlight the importance of considering heterogeneity for biologic research but also for diagnosis and treatment and the value of a multidisciplinary approach. Autism Speaks has developed initiatives and programs promoting and supporting research in these areas. The Autism Treatment Network, a collaboration of 15 medical centers, is focusing on ways to improve comprehensive care for children with autism by developing consensus standards for medical care. The network has developed a patient registry and ATN subspecialty "think tanks" to address co-morbid conditions and how they affect behaviors. Autism Speaks provides the resources to facilitate genetic research through its Autism Genetic Resource Exchange. Autism Speaks has also recently launched a Diagnostic Initiative that will use multidisciplinary approaches to diagnostic research.

Study links preemies with autism signs

CHICAGO - A small study of toddlers finds that about one-quarter of babies born very prematurely had signs of autism on an early screening test.


The research is preliminary since formal autism testing wasn't done. But the results are provocative, suggesting that tiny preemies may face greater risks of developing autism than previously thought.

That suggests autism may be an under-appreciated consequence of medical advances enabling the tiniest of premature babies to survive, said lead author Catherine Limperopoulos, a researcher at McGill University in Montreal and Children's Hospital in Boston.

She emphasized that the results don't mean extreme prematurity causes autism, but rather that it might be among contributing factors.

The risks associated with being born way too early have mostly been thought of as "neuromuscular, causing damage like cerebral palsy, and cognitive, like mental retardation," said Dr. Alan Fleischman, medical director at the March of Dimes.

"The study says there are also social and behavioral consequences which look like autism," Fleischman said. And he said it underscores a need for early autism screening among youngsters born very prematurely.

The American Academy of Pediatrics recommends autism screening for all children by age 2. Autism can't be cured but early behavior therapy can help lessen its severity.

Experts believe autism results from a combination of genes and outside influences. Some advocates believe those factors include childhood vaccines, but scientific studies have not shown that.

Previous research on autism and prematurity has generally looked back at groups of older children to see whether prematurity was more common among those already diagnosed with autism, and results have been inconsistent, said Craig Newschaffer, an autism researcher at Drexel University's School of Public Health.

Limperopoulos said her study design was more rigorous.

The study, released Wednesday and published in the April issue of the journal Pediatrics, involved 91 children aged 18 months to 2 years old. On average, they were born 10 weeks early weighing less than 4 pounds. Screening results found suspected autism in 23 children, or 25 percent.

The screening test is a 23-item checklist for parents, asking about behavior in very young children. The test is designed to screen youngsters before age 2, which is the more typical age of autism diagnosis. More comprehensive and definitive autism testing at around age 2 is recommended for those with positive screening results.

Dr. Edwin Cook, an autism researcher at the University of Illinois at Chicago, said using the preliminary screening test in preemies may be misleading because these children typically reach developmental milestones later than their peers but often catch up.

The researchers took developmental delays associated with prematurity into account, Limperopoulos said. She said the children in the study will be followed to see how many are subsequently diagnosed with autism.

Newschaffer said there's evidence that fewer than half of children the screening test identifies as at risk of autism are later diagnosed with it.