By Jillian Badanes – The Washington Times

As a toddler, Ben Adams, now 5, would hide from his family, refusing to be touched – even by his mother. At 18 months, he had not yet spoken his first word. Just before his second birthday, doctors diagnosed him with autism, the developmental disorder that affects a person’s ability to communicate with others.

“The worst thing to me was that my son might never know how much love I have for him; he might never be able to give love,” says his mother, Jill Adams of Alexandria. “That was devastating to me.”

In his first five years, Mrs. Adams says, she spent more than $100,000 taking Ben to speech therapists and development specialists, hoping to help him connect with others. However, she said, his “breakthrough moment” came in a small classroom that mixed autistic and typically developing children together.

“A typically developing boy of the same age had chosen my son to be his friend,” she says. “The look on his face showed now he knows love and he knows friendship.”

Often characterized by a lack of interest in connecting with others and an inability to communicate, autism affects 1 in 150 children in America, and 1 in 94 boys. Deciding on an educational plan for a child with autism can be a challenge for parents seeking the best range of language, behavioral and academic development programs without isolation from society.

Some parents are embracing a trend toward inclusive education, which brings all necessary services together in an environment for both typically developing children and children with disabilities.

“Inclusion in school requires a shift in the paradigm; instead of getting the child ready for the regular class, the regular class gets ready for the child,” says Beth Pellowitz, a special education teacher and co-founder of Give Autism Hope, a nonprofit organization founded with the mission of opening an inclusive school in Alexandria. “It is about being included in life and participating as a member of the community.”

An inclusive classroom teaches a child with disabilities how to interact with other people, while the typically developing child learns compassion and empathy, Ms. Pellowitz says.

Most options for special-needs education require either one-on-one therapy or tutoring sessions outside of the mainstream classroom or, alternatively, a program, class or school purely for children with disabilities.

“Traditionally, a lot of programs will take the child back to a room. We expect to have in our room everything we need, a swing for vestibular motion, we can put [in] any sort of ball pit or trampoline if need be, everything that needs to be in a special-ed setting can be in a classroom so all kids can benefit,” Ms. Pellowitz says. “We desire not to have any pull out; if a child needs quiet time, there will be something in the classroom.”

Proponents of inclusion argue that every therapy or special program for a child’s unique needs can exist within an open classroom setting.

Mandy Leap, a speech therapist who works in an inclusive classroom in Alexandria, says any classroom activity or playtime game can be made into a language exercise without removing a child from the normal setting.

Yet no child with autism is the same, and some educators question whether an inclusive classroom can really accommodate every child’s needs.

“Meeting the range of needs of both sets of kids and across the entire mission of the school to educate academically and meet developmental needs could present a practical challenge,” says Dave Nelson, director of the Community School in Decatur, Ga., a school for adolescents and young adults with autism or other nonverbal learning disabilities.

“One boy in my class freaks out completely every time he hears a siren go by. It disrupts everybody because he can’t deal with it,” says Lucie Canfield, a teacher at the Community School. “I don’t see how that could work in a different kind of school for all types of kids.”

For the typically developing child, the challenge will be, “Can you make it interesting and challenging enough over an extended period of time?” says Mr. Nelson, who has a 20-year-old son with autism.

Ms. Pellowitz says her inclusive school will have a team of multidisciplinary professionals to create a plan to meet the needs of every child in the classroom.

“By building an inclusive environment, we can create situations where children can just be children and won’t be children with disabilities or children who are typically developing,” Ms. Pellowitz says.

Chicago (AP) – A small but provocative study suggests that at least 10 percent of children with autism overcome the disorder by age 9 — most of them after undergoing years of intensive behavioral therapy.

Skeptics question the phenomenon, but University of Connecticut psychology professor Deborah Fein is among those convinced it’s real.

She presented research this week at an autism conference in Chicago on 58 children, including 20 who, according to rigorous analysis, got a correct diagnosis but years later were no longer considered autistic.

Among them was Leo Lytel of Washington, D.C., a boy who once made no eye contact, who echoed words said to him and often spun around in circles — all classic autism symptoms. Now he is an articulate, social third-grader. His mother, Jayne Lytel, says his teachers call Leo a leader.

The study, funded by the National Institute of Mental Health, involves children ages 9 to 18.

Autism researcher Geraldine Dawson, chief science officer of the advocacy group Autism Speaks, called Fein’s research a breakthrough.

“Even though a number of us out in the clinical field have seen kids who appear to recover,” it has never been documented as thoroughly as Fein’s work, Dawson said.

“We’re at a very early stage in terms of understanding” the phenomenon, Dawson said.

Previous studies have suggested between 3 percent and 25 percent of autistic kids recover. Fein says her studies have shown the range is 10 percent to 20 percent.

But even after lots of therapy, most autistic children remain autistic.

Recovery is “not a realistic expectation for the majority of kids,” but parents should know it can happen, Fein said.

Doubters say “either they really weren’t autistic to begin with … or they’re still socially odd and obsessive, but they don’t exactly meet criteria” for autism, she said.

Fein said the children in her study “really were” autistic and now they’re “really not.”

University of Michigan autism expert Catherine Lord said she also has seen autistic patients who recover. Most had parents who spent long hours working with them on behavior improvement.

But, Lord added, “I don’t think we can predict who this will happen for.” And she does not think it’s possible to make it happen.

The children in Fein’s study, which is still ongoing, were diagnosed by an autism specialist before age 5 but no longer meet diagnostic criteria for autism. The initial diagnoses were verified through early medical records.

Because the phenomenon is so rare, Fein is still seeking children to help bolster evidence on what traits formerly autistic kids may have in common. Her team is also comparing these children with autistic and non-autistic kids.

So far, the “recovered” kids “are turning out very normal” on neuropsychological exams and verbal and nonverbal tests, she said.

The researchers are also doing imaging tests to see if the recovered kids’ brains look more like those of autistic or nonautistic children. Autistic children’s brains tend to be slightly larger than normal.

Imaging scans also are being done to examine brain function in formerly autistic kids. Researchers want to know if their “normal” behavior is a result of “normal” brain activity, or if their brains process information in a non-typical way to compensate for any deficits.

Results from those tests are still being analyzed.

Most of the formerly autistic kids got long-term behavior treatment soon after diagnosis, in some cases for 30 or 40 hours weekly.

Many also have above-average IQs and had been diagnosed with relatively mild cases of autism. At age 2, many were within the normal range for motor development, able to walk, climb and hold a pencil.

Significant improvement suggesting recovery was evident by around age 7 in most cases, Fein said.

None of the children has shown any sign of relapse. But nearly three-fourths of the formerly autistic kids have had other disorders, including attention-deficit problems, tics and phobias; eight still are affected.

Jayne Lytel says Leo sometimes still gets upset easily but is much more flexible than before.

• Story Highlights
• Study: The amygdala in toddlers with autism is 13 percent larger than unaffected kids
• Size of brain area linked to ability to process faces as friend or foe
• Autism is believed to affect as many as 1 in 150 children
• University of North Carolina researchers hope findings result in earlier intervention

By Danielle Dellorto
CNN Medical Producer

(CNN) — The size of a specific part of the brain may help experts pinpoint when autism could first develop, University of North Carolina researchers report.

Using MRI brain scans, researchers found that the area of the brain called the amygdala was, on average, 13 percent larger in young children with autism compared with control group of children without autism. In the study, published in the latest Archives of General Psychiatry, researchers scanned 50 toddlers with autism and 33 children without autism at age 2 and again at age 4. The study adjusted for age, sex and IQ.

“We believe that children with autism have normal-sized brains at birth but at some point, in the latter part of the first year of life, it [the amygdala] begins to grow in kids with autism. And this study gives us insight inside the underlying brain mechanism so we can design more rational interventions,” said lead study author Dr. Joseph Piven.

A normal-sized amygdala helps a person process faces and emotions, behavior commonly known as joint attention.

“When you see a face, you scan it, identify if it’s friend or foe and make a decision about whether to move forward or avoid it,” said Dr. Barry Kosofsky, chief of neurology at Cornell Medical Center, who was not affiliated with the study.

UNC researchers conducted diagnostic assessments, in addition to the MRI scans, to monitor the children’s behavior. They found toddlers with a large amygdala also had joint attention problems. 

“We would basically try to get the child to look one way, we’d turn and point to a clock and see whether or not the child would notice it,” explained Piven. “The 2-year-olds without autism would see your face, see where you are looking and join you but the children with autism, with large amygdalas, would not.”

Autism experts agree joint attention difficulty is a key characteristic of autism. It also is the only behavior linked to a large amygdala, according to the study. Researchers found no association between repetitive behavior or other social behaviors and a large amygdala.

“This is a core feature of autism, and it raises a very provocative possibility that if they [joint attention problems] aren’t caused by changes in the amygdala, they are certainly associated with it,” said Kosofsky.

Autism experts say such findings are critical in developing new ways to treat and diagnose autism earlier.

“Many studies have observed the brain grows too big in kids with autism, but this study finds that by age 2, the amygdala is already bigger and stops growing,” said Kosofsky. “So it tells us the critical difference has already developed. It now poses the question: Are children born with autism or does it develop in the first two years of life?”

Parents cannot run out and ask their doctor to check the size of their child’s amygdala to determine their child’s autism risk, but researchers hope over time, it can be used as a clinical tool to diagnose the mysterious developmental condition, which affects as many as 1 in 150 children.

“Once we understand the neurological circuits, we may be able to detect if a child has problems in those circuits as early as 6 months of age,” said Piven. “If we are able to combine those things, we can better predict and guide interventions. We need to let the pattern of early brain development guide us to predict who is at higher risk and who would benefit from early intervention.”

UNC researchers are conducting a follow-up to their initial findings. They’re recruiting 500 infants who are also siblings of children with autism for national infant brain imaging study.

“By tracking the behaviors and brain volume growth from birth in high-risk babies, we can pinpoint when the brain first begins to grow larger than normal and provide therapy or medications to limit the growth or symptoms a lot earlier than we are doing now,” said Piven.

Autism is the fastest-growing serious developmental disability in the United States. It’s newly diagnosed in 67 children every day. The average age for diagnosis 3.

An arrhythmia is what cardiologists call a seriously irregular heartbeat. The new findings suggest that, like the cells that keep the beat of the heart (or the coxswain on a rowing team that calls out the rhythm of the strokes), certain brain cells can orchestrate oscillations that ultimately help govern behavior of other cells that are guided by those rhythms.

The brain’s bit rate

In the Nature study, which will be published online April 26 along with a companion paper from MIT on which Deisseroth and graduate student Feng Zhang are also authors, Deisseroth’s team focused on neurons in mice that produce a protein called parvalbumin. Some researchers have suspected that these neurons drive “gamma” brain waves that oscillate at a frequency of 40 times a second (or Hertz). These waves, according to the hypothesis, might affect the flow of information in the brain. To date this could never be proved because no one could selectively control the neurons and see the resulting effect on the information flow, or oscillations.

“This has been a fundamental mystery. We have these cells that could be crucially involved in high-level, complex information processing and we see these oscillations that are happening, but people don’t really know how to put all this together,” Deisseroth said. “But this is exactly the kind of thing now that we can address using optical methods.”

That’s because Desisseroth’s group has developed a technique, called optogenetics, in which specific cells can be genetically engineered to be controlled by pulses of visible light. The team did this with parvalbumin neurons in mice and found that by exciting or inhibiting them, they could produce or suppress “gamma” waves and see a marked change in the “bit rate” or quantity of information flowing through brain circuits.

“What we found is that if you crank the parvalbumin neurons down, you see fewer of these 40-Hertz oscillations. If you crank them up you see more of these gamma oscillations,” Deisseroth said. “That’s the first real proof that these neurons are indeed involved in generating these gamma brain waves.

“Then we found that we could quantify in bits the effect of oscillations on information flow through neural circuits and we found that the oscillations specifically enhance information flow among different cell types in the frontal cortex of these mammals.” Deisseroth added. “The final outcome of this is that parvalbumin neurons and gamma oscillations work together to enhance the flow of real information in the brain.”

The potential link to disease comes from the fact that in autism the gamma oscillations appear to be present at the wrong intensity, while in schizophrenia there appear to be too few parvalbumin neurons.

“This is a new perspective relevant to both schizophrenia and autism, conditions in which information comes in but it isn’t necessarily processed correctly,” Deisseroth said.

The paper’s first authors were Zhang and psychiatrist Vikaas Sohal, MD. Postdoctoral researcher Ofer Yizhar, PhD, also contributed to the work. The research was funded by the university and several foundations including the National Institutes of Health, the McKnight Foundation, the Coulter Foundation and the William M. Keck Foundation.

Feeling reward

In the Science paper, which will be published first online April 23 in Science Express, Deisseroth led a team of researchers at Stanford and the University of California-San Francisco in investigating the effect of controlling the oscillations of neurons that emit the brain chemical dopamine. The group, made up of neuroscience, bioengineering and psychiatry researchers, wanted to see if varying the oscillations led freely-behaving mice to sense varying levels of reward.

To conduct the experiment, they optogenetically engineered dopamine neurons in a specific area of the brains of the mice. Then they placed the mice into a box with three chambers in a row. At first, none of the mice had a predictable preference for which chamber to occupy. Then the researchers exposed them to two days of conditioning in which their engineered dopamine neurons were exposed to high-frequency pulses of light while in a chamber on one end, and low-frequency pulses while in the chamber on the other end. Specifically, the mice were split into two groups in which the different stimuli were associated with opposite ends of the box.

At the end of the experiment, the mice were placed in the middle chamber and exposed to no further light pulses. Each of the mice preferred to return to whichever chamber it was in when its dopamine neurons were subjected to the high-frequency light pulses, indicating that firing dopamine neurons at high-frequency rhythm correlates with stronger reward learning.

“We tested different rhythms in the dopamine neurons and we found that lower-frequency rhythms were much less effective, but the high-frequency bursts were powerfully effective in giving rise to this behavioral effect of reward,” Deisseroth said. “Understanding more about these dopamine neurons has implications not only for drugs of abuse that directly access these feelings of reward, but also for depression because in depressed people, one of the most prominent and debilitating symptoms is the inability to enjoy things.”

Brain works best when cells keep right rhythms, new Stanford studies suggest

In some sense, the papers suggest that people who aren’t thinking clearly or feeling happy might just be out of step, or rather have brain cells that quite literally don’t have rhythm.

The other Stanford authors of the Science paper are lead authors Zhang and graduate student Hsing-Chen Tsai; medical research associate Antoine Adamantidis, PhD; and psychiatry and behavioral sciences professor Luis de Lecea, PhD. The UCSF researchers are Garret Stuber, PhD, and Antonello Bonci, MD. The research was supported by several fellowships and foundations including the National Institutes of Mental Health and Drug Abuse, as well as the Keck and McKnight foundations.

Lisa McLaughlin drove six hours from her home in Fredericksburg, Va., to Cherry Hill to learn more about the devastating disorder that has affected most of her adult life.

McLaughlin’s 5-year-old son, Christopher, has autism and her 14-year-old son, Jonathan, has attention-deficit hyperactivity disorder, or ADHD.

Like many other parents in attendance during the final day of the U.S. Autism & Asperger Association regional conference at the Crowne Plaza hotel, McLaughlin had tried just about every psychological and biomedical treatment on the market for the treatment of her sons.

After hearing a 90-minute seminar from the father-son team of Dr. Mark Geier and Dr. David Geier on breakthrough research concerning the connection between high testosterone levels and autism, McLaughlin said she is ready to try a new alternative medicine for Christopher.

The Geiers say excess testosterone increases the toxicity of mercury, which they claim is the primary cause of autism, and that the suppression of testosterone production improves the ability to remove the poisonous mercury — a method often referred to as chelation therapy.

The drug Lupron, or leuprolide acetate, lowers testosterone in autistic children, which then frees up the toxic mercury, the Geiers say. The Geiers, who operate eight offices nationwide under the name “Genetic Consultants,” found that testosterone blocks the body’s ability to make glutathione and that mercury binds to glutathione.

“Many pediatricians think there’s no biomedical problem with autistic children. They think it’s all psychological,” Mark Geier said. “It all ties back to one thing — high testosterone levels and low glutathione levels.”

Autism makes social interactions and learning difficult and frequently drives children to engage in disruptive behavior. Symptoms include limited attention span, avoiding eye contact and difficulty expressing themselves.

New Jersey has the highest rate of autism in the country, with one in 94 children being affected, according to a recent study by the Centers for Disease Control and Prevention.

The cause of autism has been the subject of great debate between doctors, scientists and other medical professionals recently — namely whether vaccines play a role in injecting toxic mercury into the body leading to autistic conditions.

To prove there is a hormonal connection to autistic children, the Geiers displayed several studies that showed a major side effect of high testosterone in children is precocious (or premature) puberty. The Geiers said they found signs of premature puberty, such as facial hair, body odor and early sexual development, in 80 percent of the autistic children in their clinic.

“The testosterone levels are positively correlated with a number of autistic traits and inversely correlated with social development and empathy,” David Geier said.

The Geiers say they have treated more than 200 patients with a combination of Lupron until the point at which testosterone levels normalize, then dimercaptosuccinic acid, or DMSA, to remove any remaining mercury.

Lupron is not recommended or approved by the FDA for uses related to autism. The drug is FDA-approved for adults for the treatment of prostate cancer, endometriosis, and uterine fibroids, according to the FDA Web site.

But the Geiers stand by the drug’s off-label use in its ability to control testosterone in autistic children. Mark Geier said laboratory tests at his clinic show that after just three months on Lupron, autistic children improved in dozens of cognitive and behavioral ways.

Perhaps the Geiers’ best evidence of the effectiveness of Lupron on Sunday came from the crowd, not the presentation.

Alicia DePalma, of Kunkletown, Pa., had her 13-year-old son Peter stand up and acknowledge the crowd. She explained how Peter was on several medications through his childhood, with very limited results. Then a year and a half ago, after hearing about the Geiers’ studies, she decided to give Lupron a shot.

“He used to sit there like a zombie and when the medicine wore off, he would start banging his head off the table,” DePalma said. “Now he washes the dishes, does gardening outside, and loves sports. And he is now coming back into being vocal.”

Newswise — The strong preference kids with autism have for certain foods places them at risk for nutritional deficiencies because their diets lack sufficient variety, according to research from Cincinnati Children’s Hospital Medical Center at this year’s Pediatric Academic Societies meeting in Baltimore.

Presenting their findings May 4, the researchers said screening children for the amount of variety of food in their diets may be a good clinical marker to predict which children might be at risk for nutrition problems. Kids with low food variety scores who are at risk could then be referred to dieticians or therapists to help them expand food choices and improve nutrition, said Michelle Zimmer, M.D., lead investigator and a pediatrician in the division of Developmental and Behavioral Pediatrics at Cincinnati Children’s.

The study is one of two presented by Dr. Zimmer and colleagues this year at PAS that deal with autism, the second one showing that the red blood cells of children with autism have low levels of a fatty acid linked to cognitive function. This finding, the researchers report, warrants further research into how the low fatty acid levels may trigger biochemical changes in the brain linked to autism.

The team found that levels of docosahexanoic acid and total omega-3 fatty acids were significantly lower in the red blood cells of autistic children than in normally developing children. Omega-3 fatty acids are nutritionally important substances considered vital to the normal development of children.

Evidence of abnormal fatty acid metabolism in children with autism runs counter to at least one previous study that suggested no difference between normally developing and autistic children. The different results between studies may be explained by the current research focusing on an older group of children, Dr. Zimmer said.

“The fatty acid docosahexanoic is linked to other mental health issues, and this raises questions about whether there are functional issues in neural cells involving a deficiency of essential fatty acids,” said Dr. Zimmer. “The main point of the study is we cannot rule that fatty acids are part of the story of what is going on with kids who have autism.”

Dr. Zimmer said its possible older children with autism have had more time to use up their bodies’ stores of omega-3 fatty acids and are unable to replenish those stores. The 21 children with autism in this study were between the ages of 3 and 18 years, as were the 20 age-matched normally developing children and 10 if their siblings who served as control subjects.

The research team is conducting a larger study with more children to verify its PAS findings. Dr. Zimmer said another study is also under design to give essential omega-3 fatty acids, such as docosahexanonic acid, to children with autism to see what impact it has on brain chemistry and/or the disorder.

Increasing foods rich in omega-3 fatty acids in the diets of autistic children has been suggested by some researchers as potentially beneficial, Dr. Zimmer said. Although doing so would not have a negative impact on the children, until studies are conducted it isn’t known what affect, if any, it might have, she added. Also, given the findings of the previous study on the lack of food variety among kids with autism, augmenting their diets could be challenging.

Most of the 19 autistic children in the food study had much lower food variety scores in their diets than typically developing children. A majority of the children with autism also suffered from nutritional deficiencies. The researchers concluded children with autism and low food variety scores are at risk for mild and serious nutritional deficiencies.

Researchers participating in studies were from the division of Developmental and Behavioral Pediatrics and division of Neurology at Cincinnati Children’s. Researchers from the department of Pathology at the University of Cincinnati participated in the study on food variety.

The PAS meeting is the largest international meeting focused on research in child health. It is sponsored by the American Academy of Pediatrics, the American Pediatric Society, the Society for Pediatric Research, and the Ambulatory Pediatric Association.

Cincinnati Children’s Hospital Medical Center is one of America’s top three children’s hospitals for general pediatrics and is highly ranked for its expertise in digestive diseases, respiratory diseases, cancer, neonatal care, heart care and neurosurgery, according to the annual ranking of best children’s hospitals by U.S. News & World Report. One of the three largest children’s hospitals in the U.S., Cincinnati Children’s is affiliated with the University of Cincinnati College of Medicine and is one of the top two recipients of pediatric research grants from the National Institutes of Health. For its achievements in transforming healthcare, Cincinnati Children’s is one of six U.S. hospitals since 2002 to be awarded the American Hospital Association-McKesson Quest for Quality Prize ® for leadership and innovation in quality, safety and commitment to patient care. The hospital is a national and international referral center for complex cases, so that children with the most difficult-to-treat diseases and conditions receive the most advanced care leading to better outcomes. Additional information can be found at www.cincinnatichildrens.org.

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Show the average 14-month-old baby a sealed jar of cookies, and you get some pretty predictable behavior. The child will reach for the treats and, when thwarted, look beseechingly at the nearest adult. The request for help — delivered with eye contact, gestures and often with pleading sounds — is unmistakable. But some babies don’t do it. One little boy, captured on video by psychologist Wendy Stone at Vanderbilt University, repeatedly places a researcher’s hand on the cookie jar but never once looks at her face to see why she isn’t responding. Eventually, tragically, he gives up.

Show the average 18-month-old a video of toddlers at play, and you can bet that the tot will be mesmerized by scenes with strong emotion: a fight or kiss. But some babies have other interests. At the Yale Child Study Center, psychologists Warren Jones, Ami Klin and Sarah Shultz measure when toddlers stop blinking — a reliable indicator of rapt attention. The typical child will stare at the scene of a kiss, but a child with autism will be transfixed by the opening and closing of a door.

Experiments like these, presented at a recent conference at Columbia University’s Teachers College, are helping researchers identify the signs of autism at ever earlier ages. For parents, says Stone, director of Vanderbilt’s Treatment and Research Institute for Autism Spectrum Disorders, “the average age of first concern is 17 months, though a diagnosis isn’t typically made until age 3. That’s a long time to be concerned and not know what to do.”

In 2007, the American Academy of Pediatrics recommended that doctors begin screening babies for autism at 18 months, but researchers have yet to refine the tools for making a reliable diagnosis at that age. One issue, says Catherine Lord, director of the University of Michigan Autism & Communication Disorders Center, is that there is so much individual variability in how babies develop. Another challenge is that many of the signature signs of autism — delayed speech, repetitive movements or fixations on particular toys or objects — involve language and motor skills that babies have not yet acquired. That’s why identifying the signs of autism before age 2 often involves the absence of typical behavior as opposed to the presence of aberrations.

Among the telltale signs of trouble at 12 months: not responding to one’s name; not sharing interests through pointing and eye gaze; lack of joyful expression; an absence of babbling; difficulty establishing eye contact; and staring too long at inanimate objects. Investigators have identified these red-flag signs of autism by looking at early home videos of children who were diagnosed at age 3 or later and by studying the younger siblings of children with autism, who have relatively high rates — perhaps 15% — of the disorder. But no single behavior is indicative, and researchers believe that rather than being given a definitive diagnosis, tots with several of these behaviors should be identified as “at risk” and referred to early-intervention programs.

Research strongly suggests that early intervention is key to improving outcomes for at-risk children. And by identifying these children at younger ages, scientists can better determine which aspects of autism are hardwired and which are the secondary results of living with the disability. There is also growing support in the autism-research community for the view that a significant number of children who are at risk could be protected from becoming fully autistic if they are assisted early enough and given the optimal intervention.

“The environment in the early years has an active role in shaping the brain,” says Geraldine Dawson, a leading autism researcher and the chief scientific officer of the advocacy group Autism Speaks. “What we see in autism may be partly the result of not engaging with the social environment. So if you engage the baby through an intervention, you might prevent or at least reduce the development of autism symptoms.”

Thus, the child who is not taking part in the typical parent-child dance — exchanging smiles and glances, pointing at something of interest, seeking attention — is missing out on a lot of learning and failing to lay the foundations for more complex social behavior. Rather than become experts on social cues, as most humans are wired to do, these children, observes Klin, tend to focus on the physical world — the opening and closing of doors and the properties of inanimate objects.

Several studies from across the country are looking at how to draw at-risk infants into the social world so that they will develop more normally. One National Institutes of Health–funded study, at the University of Washington, begins intervention for at-risk babies at 8 months, says Dawson, who adds, “What we are doing is teaching the parents how to structure interactions to promote eye contact and babbling.” Parents learn, for example, to engage their babies in settings where there are few distractions so that facial expressions and language are more salient. They also learn strategies to calm infants who tend to become agitated and stressed by social activity. The intervention is playful in spirit, says Dawson, adding, “Parents get very confident and are able to learn this quickly.” The hope, she says, is that for some significant portion of children at risk, “we can begin before the full autism syndrome is present and prevent it from emerging.”

By Allie Montgomery

Autism has always been a mysterious disease with very few methods of treatment, but now there may be new clues. Researchers have found some genetic variations that are significantly more common in patients that have autism. This could improve diagnosis of the disease and offers the promise of developing new treatments for the frustratingly mysterious disorder.

The researchers’ findings, published in the recent issue of Nature, compared the genomes of thousands of people that suffer from autism to those of the thousands of people that did not have the disorder, a massive task that new technology has only recently been made possible. They research studied the genome which is the complex system of DNA coding that builds and runs our bodies.

The review showed that most of the people that had autism had a genetic variation in a portion of their DNA which affects the way that the brain cells connect with each other. The researchers also reported a link between the disorder and small “mistakes” in another segment of DNA that is involved with cell communication. Both of the reports add weight to the idea that autism is related to problems in the way that the cells of the brain connect.

Hakon Hakronarson, who is the director of the Center for Applied Genomics at Children’s Hospital of Philadelphia, stated, “It is very exciting. It opens up the opportunity someday for new interventions to fix the bad consequences this variant has on brain function and development.”

Autism is a disorder that is marked by impaired language and the ability to interact. According to the federal Centers for Disease Control and Prevention, approximately 1 in 150 children in the United States are affected by Autism. Up until now, the medical community could say very little about what causes the disorder or how it could be treated. The lack of this scientific knowledge about autism has led to the proliferation of pseudoscientific explanation about the disorder, as well as many unproved treatments that are often very costly and can sometimes be unsafe.

However, this is not the first time geneticists have found a link between DNA and autism. For years, the researchers have known that changes in a particular gene can cause the symptoms of autism, which results in Fragile X Syndrome. They have also discovered extremely rare instances where a very small bit of DNA was missing or there were too may copies of another bit of DNA. These differences can help us understand how the changes in those regions of the genome can cause autism symptoms, but they have accounted for only a small fraction of the cases of autism.

By contrast, the new researcher is being considered a very big step, according to Tom Lehner, the chief of the Genomics Research Branch at the National Institute of Mental Health. “It opens up biology. With biology, you can find drug targets. Understanding the molecular networks, this is the big importance of these findings.”

One of the studies that was released on Tuesday found that approximately 65 percent of the participants with autism shared a genetic variation between cadherin 9 and cadherin 10, which is a region of the genome that controls cell-adhesion molecules in the brain. The figure for the study participants that did not have autism was approximately 60 percent, a difference that is statistically significant. Hakonarson said, “If we could remove this variant from the population, just take it away … as much as 15 percent of autism would disappear, which is highly significant.”

The second study conducted suggested that a link between the disorder and an excess of genetic material that is associated with ubiquitin,  which is a protein involved with cell-adhesion molecules and the connections between cells in the brain.

New of the researcher’s findings has excited other autism researchers. Laura Herzing, who researches genetic and autism at the Children’s Memorial Research Center at Northwestern University, stated that the ubiquitin findings dovetailed some of her own research. She also said, “It will directly affect what I am doing. Identification of pathways in this way lets us know that we should also be looking closely at other genes and proteins in those pathways as well.”

The researchers also warned against using these new findings to say, check you child’s genome for the sings of autism. The variations did show an increased risk but are not conclusive markers of autism.

The reports also do not explain the rising numbers of autism cases that are diagnosed. This increase could be occurring because of the heightened awareness of autism, because the definition of the disorder has expanded or because of other environmental factors. It could be some combination of all of these factors or something else entirely different.

Still, activists for autism are celebrating some good news for a disorder that has frustrated so many people for such a long time. Alison Singer, who is the president of the non-profit Autism Science Foundation and a mother of a child that suffers from autism, said, “Speaking as a parent, studies like this are a huge source of hope. They can lead to the development of safe, effective and novel treatments that enhance quality of life for children and adults with autism spectrum disorders.”