It remains one of the greatest mysteries of medicine. Although autism will be diagnosed in more than 25,000 U.S. children this year, more than new pediatric cases of AIDS, diabetes and cancer combined, scientists and doctors still know very little about the neurological disorder.

Unlike childhood diabetes or pediatric leukemia, there is no blood test, no scan, no image that can detect autism. Diagnosis relies totally on behavioral observation and screening. And that’s not easy.

According to the National Institute of Neurological Disorders and Stroke, three distinctive behaviors characterize autism: lack of social interaction, problems with verbal and nonverbal communication, and repetitive behaviors or narrow, obsessive interests. But children with autism display these symptoms in many different ways, some as mild as avoiding eye contact, while others are totally immersed in a world of their own.

Dr. Gary Goldstein, president of Kennedy Krieger Institute, one of the leading U.S. facilities for autism research and treatment, says although doctors know more about autism than ever, plenty of questions remain unanswered. Over the past few years, it has become clear that genetics play a big role in the development of autism. But researchers believe something — a trigger — sets off autism in a child.

“It’s a combination of being genetically vulnerable, and then having some kind of social or toxic exposure that tips you over,” Goldstein says. If scientists find that trigger, they could find the missing piece of the autism puzzle.

It’s that missing puzzle piece that frustrates families with autistic children. When the Gaston triplets of Ellicott City, Maryland, were born seven years ago, their parents, Lynn and Randy, were thrilled. For years, they had been trying to have children. After in vitro fertilization, Lynn gave birth to identical twins, Hunter and Nicholas, and a fraternal brother named Zachary. Though they were born prematurely, they grew to be healthy, happy babies. Then something changed.

At around 18 months, the boys began to display unusual behaviors. Zach became compulsive, lined up cereal boxes and toys; he wouldn’t socialize and kept to himself. Hunter would roam the house at night and scream at the top of his lungs. Nick just stopped talking.

Lynn asked her pediatrician about it. Her sons’ doctor said she was overreacting and they should wait and see. But Lynn and Randy were sure there was something wrong with their children. It was frustrating for Lynn, who watched her children change every day before her eyes. “It was almost as if somebody turned the switch off. It was like the first 18 months of their lives didn’t happen.”

As months passed, the Gastons became frustrated as doctor after doctor told them to wait. That was unfortunate, because doctors now know that the sooner autism is diagnosed, the better chance the child has for getting successful treatment.

“Early intervention is key, because brain development starts before birth,” says Dr. Pat Levitt, director of the Vanderbilt Kennedy Center for Research on Human Development in Nashville, Tennessee.

“During the ages of 0 to 5 years, there is a tremendous amount of change that occurs in the brain and brain chemistry.”

In October, the American Academy of Pediatrics set up new guidelines to help pediatricians recognize the early signs of autism, in order to diagnose the disorder and get children into treatment as soon as possible.

Unfortunately, that didn’t happen for the Gastons. Their boys were 4 years old before doctors at Kennedy Krieger confirmed the family’s fears. All three sons had some variation of autism.

The Gastons had never heard of autism before their sons were born. Now they were raising three autistic children. That was tough enough, but even after the diagnosis, it was hard to find any information on the condition. That’s because until recently, very little information on autistic children has been widely available. The Centers for Disease Control and Prevention have been collecting data only since 2001, the year the Gaston triplets were born.

Lynn expressed her frustration: “It’s not like you can look up autism in the phone book. I couldn’t go to the Yellow Pages and find a doctor, and didn’t even know what doctor to go see. I thought my pediatrician was going to handle all this.”

The Gastons keep asking themselves, “Where is the trigger?” They’ve each looked into their family history and found no autism.

Some parents believe that thimerosal, a preservative found in childhood vaccines that virtually every child gets, causes autism, because many children were diagnosed after they were vaccinated. But most medical experts increasingly doubt that theory, because even though the chemical has been removed from virtually all vaccines, the number of cases of autism is rising.

“You remove thimerosal from all but the flu vaccine, which isn’t given to children under 6 months of age, and the incidence of autism only increases. So you just have piece of evidence after piece of evidence after piece of evidence that really disproves this notion,” said Dr. Paul Offit, chief of the Infectious Diseases Division at Children’s Hospital of Philadelphia, Pennsylvania.

Although the Gastons don’t express their opinions on vaccines, Randy makes a point: “There’s something that’s affecting these children at that age, and it’s unfortunate that families are left to their own devices to find out what is going on.”

For now the Gastons remain dedicated to getting their sons the best care possible, which can be expensive. They sold their house in order to pay bills for therapy and doctors that total in the hundreds of thousand of dollars.

They are also involved in autism awareness groups and try to help other parents of autistic children understand what their children are going through. Just recently they shot a public service announcement to promote a new project developed by the Kennedy Krieger Institute, called IAN, or interactive autism network, an online project that can help autism researchers link with families of autistic children as well as with other scientists. The hope is that IAN will alert families to local and national autism research projects they can participate in.

But minus the projects and the doctors and the therapists, the Gastons, like many families with autistic children, believe it all comes down to the attention they give their children that makes the real difference.

To say it’s been difficult for the Gastons is an understatement. But above all, they love each other and work to give their children as much happiness as possible.

As Randy Gaston says while Zach turns to give him a hug and a smile, “The one thing he has to know for the rest of his life is that I did everything for him. That’s what it comes down to. I love him.”

Source: CNN
http://www.cnn.com/2008/HEALTH/conditions/03/31/autism.main/?iref=mpstoryview

Mice lacking a certain brain protein learn some tasks better but also forget faster, according to new research from MIT that may explain the phenomenon of autistic savants in humans. The work could also result in future treatments for autism and other brain development disorders.

Researchers at the Picower Institute for Learning and Memory at MIT report in the Feb. 13 issue of the Journal of Neuroscience that mice genetically engineered to lack a key protein used for building synapses–the junctions through which brain cells communicate–actually learned a spatial memory task faster and better than normal mice. But when tested weeks later, they couldn’t remember what they had learned as well as normal mice, and they had trouble remembering contexts that should have provoked fear.

“These opposite effects on different types of learning are reminiscent of the mixed features of autistic patients, who may be disabled in some cognitive areas but show enhanced abilities in others,” said Albert Y. Hung, a postdoctoral associate at the Picower Institute, staff neurologist at Massachusetts General Hospital and co-author of the study. “The superior learning ability of these mutant mice in a specific realm is reminiscent of human autistic savants.”

Autism is one of a group of developmental disabilities known as autism spectrum disorders (ASDs), in which a person’s ability to communicate and interact with others is impaired. The Centers for Disease Control and Prevention estimate that one in 150 American children have an ASD. Occasionally, an autistic person has an outstanding skill, such as an incredible rote memory or musical ability. Such individuals–like the character Dustin Hoffman played in the film “Rain Man”–may be referred to as autistic savants.

Hung said that while it seems counter-intuitive that loss of an important synaptic scaffold protein would result in improved learning among the mice in this study, the absence of this protein may “trap” the mice’s synapses in a more plastic state, which means the synapses are ready to respond to input but not maintain it in long-term memory.

Aberrant synapse development and faulty structure of dendritic spines–tiny protrusions on the surface of neurons that receive messages from other neurons–are often associated with neurodevelopmental disorders, including autism, in humans. (…)

Source: MIT News, MA
http://web.mit.edu/newsoffice/2008/savants-0212.html

(…) Scientists have found a variation in a gene that may raise the risk of developing autism, especially when the variant is inherited from mothers rather than fathers. The research was funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health.

Inheriting the gene variant does not mean that a child will inevitably develop autism. It means that a child may be more vulnerable to developing the disease than are children without the variation.

The gene, CNTNAP2, makes a protein that enables brain cells to communicate with each other through chemical signals and appears to play a role in brain cell development. Previous studies have implicated the gene in autism, and in this study researchers were able to link a specific variation in its structure to the disease.

Results of the study were reported online January 10 in the American Journal of Human Genetics, by Aravinda Chakravarti, Ph.D., Dan E. Arking, Ph.D., and colleagues from the Johns Hopkins University School of Medicine, with Edwin Cook, M.D., and colleagues from the University of Illinois at Chicago.

“Autism is highly heritable. Identifying the genes involved is crucial to our ability to map out the pathology of this isolating and sometimes terribly disabling disease, which currently has no cure,” said NIMH Director Thomas R. Insel, M.D.

Autism is a developmental brain disorder that impairs basic behaviors needed for social interactions, such as eye contact and speech, and includes other symptoms, such as repetitive, obsessive behaviors. The symptoms sometimes cause profound disability, and they persist throughout life. Treatments may relieve some symptoms, but no treatment is fully effective in treating the core social deficits.

Although the cause of autism is not yet clear, studies of twins have shown that genes play a major role. It is likely that variations in many genes, influenced by environmental factors, interact during brain development to cause vulnerability to the disease. These genes have yet to be identified… (…)

Source: EurekAlert, DC
http://www.eurekalert.org/pub_releases/2008-01/niom-arh010308.php

(…) Finally, they found out what made Jessie so different: She had Asperger’s syndrome, a neurobiological disorder that most researchers consider a form of autism.

Asperger’s is classified in the medical journals as a disability, but Jessie has the structures she needs to cope. She has wise, attentive parents and an unusually supportive school environment.

As with other forms of autism, Asperger’s diagnoses have been on the increase in recent years. (…)

Although the syndrome was identified in the mid-1940s by Viennese pediatrician Hans Asperger, too many kids, until recently, were written off with cruel dismission as odd, incorrigible or mentally deficient.

Early diagnosis is critical, so children can start learning specific strategies for dealing with the people around them. Too often, people with Asperger’s suffer from depression and frustration as a consequence of the social isolation they feel.

In his highly readable memoir about living with Asperger’s, author John Elder Robison describes the anger his behavior used to inspire in the people around him. Its title is Look Me in the Eye: My Life with Asperger’s, a refrain that echoes back to his earliest memories. A key trait of Asperger’s is difficulty looking other people directly in the eyes.

Mr. Robison, who worked creating technical effects for the rock band Kiss and today is a businessman in Massachusetts, recounts a painful childhood of feeling like a misfit. His condition was finally diagnosed at age 40.

“Asperger’s is not a disease,” he writes. “It’s a way of being. There is no cure, nor is there a need for one.”

People with Asperger’s stand out as “odd” because they’re different. Their behavior seems unusual to most people because their brains work differently. The easy social cues that most of us take for granted – the chitchat, the appearance of interest or concern – don’t make instinctive sense to a person with Asperger’s.

“Those just aren’t automatic responses for these kids,” said Dr. Michael McLane, a Dallas pediatric psychologist whose practice includes many children with Asperger’s. “The good news is that these are concrete behaviors someone can learn.” (…)

The other key aspect of Asperger’s is an intense, laserlike focus on a narrow range of interests. Most of us are generalists in the things we think about; people with Asperger’s tend to be super-specialists. (…)

If people with Asperger’s, as a group, lack the natural social skills most of us use every day, they also tend to lack some of our darker social habits too: artifice, manipulation, spite. Not, on balance, a bad trade-off.

“It’s a misperception that there’s no positive outlook for these kids,” Dr. McLane said. “It’s not true that they’re not going to be able to go to college or get married or hold a job. They can do it if they’re taught the right skills.” (…)

Source: Dallas Morning News, TX
http://tinyurl.com/2p93z4

The prospect of the first treatment for thousands of sufferers of a severe form of autism is raised by a study published today.

The research suggests that a certain class of drugs could help reverse Fragile X syndrome, the most common inherited cause of mild to severe intellectual disability and marked attention deficits, as well as social, language, emotional and behavioural problems.

These drugs are not yet approved, but are expected to go into human safety trials in America next year. If shown to be safe on adults, they will be tested on children, who are expected to benefit the most.

Hopes of the first treatment flow from a study, published today in the journal Neuron, in which mice developed to mimic the severe disease had diverse symptoms corrected by tinkering with a single gene.

“These findings have major therapeutic implications for Fragile X syndrome and autism,” says lead author Prof Mark Bear, director of the Picower Institute for Learning and Memory at the Massachusetts Institute of Technology.

Autism is a catch-all term for a wide range of symptoms - usually marked by an inability to recognise and show emotions. Fragile X syndrome affects mostly boys at a rate of one in 4,000, with girls affected at half the rate and up to one-third of boys and young men with Fragile X qualify for having an autistic spectrum disorder.

Today’s work backs the theory that many of the severe symptoms - learning disabilities, autistic behaviour, childhood epilepsy - stem from too much activation of a protein that picks up messenger chemicals in the brain - the metabotropic glutamate receptor, known as mGluR5.

“I think this may be relevant for children with mild autism too,” Prof Bear told The Telegraph.

Fragile X and several other gene mutations that cause autism suggest that autistic behaviours may be linked to excessive manufacture of proteins in synapses, the junctions between brain cells. ” If this hypothesis is correct, therapies targeting mGluR5 could be helpful,” he says.

Fragile X is also marked by excessive and more spindly brain connections, memory loss, and changes to the growth and electrical properties of brain cells. “Remarkably, all these excesses can be reduced by reducing mGluR5,” said Prof Bear. (…)

Source: Telegraph.co.uk, United Kingdom
http://tinyurl.com/yt957q

Professor Simon Baron-Cohen reports on advances in helping children with autism to understand feelings

Autism comes by degrees. People with the milder form, Asperger’s syndrome, display communication difficulties and “obsessional” interests. In severe cases, however, it can be as if your child is locked in a glass bubble, staring vacantly past you as you desperately try to make eye-contact. (…)

WHAT ARE THE CAUSES?

According to a study in The Lancet last year, an estimated 1 per cent of the population lie somewhere on the autistic spectrum. This figure represents an increase over earlier ones but this rise is likely to be due to better diagnosis and awareness of the condition. Autism spectrum conditions result from alterations in brain development, affecting how an individual perceives, learns and communicates. The two main subgroups are autism and Asperger’s syndrome.

Using the latest brain scanning methods such as fMRI (functional magnetic resonance imaging), studies from labs in Cambridge and London, and confirmed in labs around the world, have revealed that certain brain areas are underactive in people with autism. The amygdala (sometimes thought of as the emotion centre) and the medial prefrontal cortex (involved in social behaviour) are underactive in people with autism spectrum conditions when they are trying to decode another person’s facial expression.

Studies from San Diego suggest that the autistic brain is also growing too fast in early childhood, and researchers in Carnegie Mellon University have found that different regions of the brain are not connected in the usual way. New work from Cambridge suggests that elevated testosterone levels in the foetus, in the second trimester of pregnancy, is associated with a greater number of autistic traits. This finding may help to explain why many more boys than girls develop an autism spectrum condition. In New York, researchers are experimenting with boosting levels of a different hormone, oxytocin. This is sometimes called the “love hormone”, as levels increase in intimate relationships. Elevated levels of the hormone are associated with being more trusting and better able to read emotional expressions. It may be relevant that women produce twice as much oxytocin as men.

Autism and Asperger’s syndrome run in families. If there is one child who has a diagnosis on the autistic spectrum, the likelihood of another child also having a diagnosis is about 5-10 per cent, which is higher than the general population rate. Molecular genetic studies are focused on identifying the key genes that might play a role in increasing the risk of a diagnosis. Studies of twins have established that it is not 100 per cent genetic, since even among identical twins, when one has autism, the likelihood of both twins having autism is only about 60 per cent. This means there must also be an environmental component, but what it is remains unknown. (…)

WHAT HELPS?

(…) The message is that a diagnosis of autism does not mean there is no hope for learning and development. Parents, therapists and teachers wanting to know which methods to try should visit a wonderful new website (www.researchautism.net) that provides impartial summaries of the evidence for or against a different method.

MYTHS ABOUT AUTISM

The MMR vaccination causes autism

There is no strong evidence for this claim. In Japan, for example, although the rates of autism were rising (as they have been worldwide), they continued to rise even after the withdrawal of the MMR public health programme.

Autism is caused by poor parenting

This idea has been disproved. Autism is found in families where other children have been raised successfully, and the fact that autism involves atypical neurological development from the earliest stage shows that it is not a reaction to parental behaviour. (…)

Source: Times Online, UK
http://tinyurl.com/yt8k6d

Brain overgrowth in the latter part of an infant’s first year may contribute to the onset of autistic characteristics, according to research presented today at the American College of Neuropsychopharmacology (ACNP) annual meeting.

These findings support concurrent research which has found brain overgrowth in autistic children as young as two years old.

Lead researcher Joseph Piven, M.D., Director of the Neurodevelopmental Disorders Research Center at the University of North Carolina, Chapel Hill and an ACNP member, says that behavioral studies of infants at high risk for autism suggest that the onset of most behavioral symptoms which define the disorder, such as problems with and social interaction, also occur at about age one. “One reason these findings are important is because early post-natal onset raises the possibility that there may be a window for early treatment and prevention that could be identified by future studies,” Piven says. (…)

In normal brain development, neuronal connections are eliminated through a process called “pruning.” This process refines normal brain connections and increases the efficiency of remaining connections in the brain. Piven says one possibility is that there is less pruning in children with autism and therefore, their brains become larger than in children without autism.

Piven cautions that while the study seems to suggest a link between brain overgrowth and autism, there are many variants of autism among children, so the ways in which autistic children develop and are affected by brain growth can vary greatly. (…)

Source: HULIQ, NC
http://tinyurl.com/2skd68

Autism and other brain disorders may be the result of a missing protein important for building communication networks in the brain, U.S. researchers said on Wednesday.

Researchers at the Massachusetts Institute of Technology found that an enzyme called Cdk5 that instructs a synapse-building protein called CASK may be going awry, causing a breakdown in the formation of synapses.

Synapses allow information from one neuron to pass to another and are essential for the ability to learn and remember.

“If there is a reduction in the number of synapses, that is going to profoundly affect the function of the nervous system,” said Li-Huei Tsai, an MIT professor and Howard Hughes Medical Institute researcher, whose study appears in the journal Neuron.

Cdk5 is a kinase, an enzyme that changes proteins. Its primary task is to help new neurons form and migrate to their correct positions during brain development. But Tsai’s study suggests it may also play a role in the formation of synapses.

The research offers a possible explanation for the underlying molecular causes of autism, she said in a telephone interview…

Source: Reuters
http://www.reuters.com/article/healthNews/idUSN0559499920071205

Carnegie Mellon University neuroscientist Marcel Just and Stanford postdoctoral fellow Sashank Varma have put forward a new computational theory of brain function that provides answers to one of the central questions of modern science: How does the human brain organize itself to give rise to complex cognitive tasks such as reading, problem solving and spatial reasoning?

More than a decade of research involving functional Magnetic Resonance Imaging brain scans in hundreds of laboratories has yielded a tremendous amount of information about what parts of the brain are activated when a person performs various tasks. Some researchers have been tempted to conclude that a simple one-to-one relationship exists between high-level mental tasks and brain areas. For example, some believe that a specific brain area is responsible for a specific cognitive task, such as identifying a face.

Just and Varma, however, propose that the evidence reveals a more complex picture in which thinking is a network function — a collaboration of several brain areas that is constantly adapting itself, based on the task at hand and the brain’s own resources and biological limitations. The collaborating parts of the brain, according to Just, are like members of a sports team whose players substitute in and out of the action…

“As neurological issues arise in education, aging and development, and as a basis for a knowledge-based economy, it will become increasingly important that human brain function be understood by students, parents and educators, patients and doctors, trainees and managers, citizens and policy-makers.”

Source: Science Daily
http://www.sciencedaily.com/releases/2007/11/071115164106.htm

Children should be screened for autism twice by the time they are two years old to look for symptoms such as babies who don’t babble at nine months and one-year-olds who don’t point to toys.

That’s the advice from the American Academy of Pediatrics in two reports the group presented at its annual meeting in San Francisco Monday.

The advice is meant to help both parents and doctors spot autism sooner so that therapy can begin as soon as possible. While there is no cure for autism, experts say early therapy can lessen its severity.

The reports list numerous warning signs that are absolute indications for immediate evaluation. They include:

* no babbling or pointing or other gesture by 12 months;
* no single words by 16 months;
* no two-word spontaneous phrases by 24 months;
* loss of language or social skills at any age.

Earlier, subtle signs that that could lead to earlier diagnosis include:

* not turning when the parent says the baby’s name;
* not turning to look when the parent points says, “Look at…” and not pointing themselves to show parents an interesting object or event;
* lack of back and forth babbling;
* smiling late; and
* failure to make eye contact with people.

The doctors also want to warn parents that not all children who display a few of the symptoms are autistic. They note that just because a child likes to line up toy cars or likes to repeatedly stroke a favourite stuffed animal doesn’t mean they have the developmental disorder - especially if they’re also interacting socially and also communicating well…

Source: CTV.ca, Canada
http://tinyurl.com/yvrbyu