The Brains of Autistic Children create more information while at rest

Quinn, an autistic boy, and the line of toys he made before falling asleep. 

Repeatedly stacking or lining up objects is a behaviour commonly associated with autism. 

Credit: Wikipedia.

New research from Case Western Reserve University and University of Toronto neuroscientists finds that the brains of autistic children generate more information at rest – a 42% increase on average.

The study offers a scientific explanation for the most typical characteristic of autism – withdrawal into one's own inner world.

The excess production of information may explain a child's detachment from their environment.

Published at the end of December in Frontiers in Neuroinformatics, this study is a follow-up to the authors' prior finding that brain connections are different in autistic children.

This paper determined that the differences account for the increased complexity within their brains.

Roberto Fernández Galán

"Our results suggest that autistic children are not interested in social interactions because their brains generate more information at rest, which we interpret as more introspection in line with early descriptions of the disorder," said Roberto Fernández Galán, PhD, senior author and associate professor of neurosciences at Case Western Reserve School of Medicine.

The authors quantified information as engineers normally do but instead of applying it to signals in electronic devices, they applied it to brain activity recorded with magnetoencephalography (MEG).

They showed that autistic children's brains at rest generate more information than non-autistic children.

This may explain their lack of interest in external stimuli, including interactions with other people.

The researchers also quantified interactions between brain regions, i.e., the brain's functional connectivity, and determined the inputs to the brain in the resting state allowing them to interpret the children's introspection level.

José L. Pérez Velázquez

"This is a novel interpretation because it is a different attempt to understand the children's cognition by analyzing their brain activity," said José L. Pérez Velázquez, PhD, first author and professor of neuroscience at University of Toronto Institute of Medical Science and Department of Pediatrics, Brain and Behavior Center.

"Measuring cognitive processes is not trivial; yet, our findings indicate that this can be done to some extent with well-established mathematical tools from physics and engineering."

Henry and Kamila Markram

This study provides quantitative support for the relatively new "Intense World Theory" of autism proposed by neuroscientists Henry and Kamila Markram of the Brain Mind Institute in Switzerland, which describes the disorder as the result of hyper-functioning neural circuitry, leading to a state of over-arousal.

More generally, the work of Galán and Pérez Velázquez is an initial step in the investigation of how information generation in the brain relates to cognitive/psychological traits and will begin to frame neurophysiological data into psychological aspects.

The team now aims to apply a similar approach to patients with schizophrenia.

More Information: José Luis Pérez Velázquez and Roberto Fernández Galán published this Original Research article.'Information Gain in the Brain’s Resting State: A New Perspective on Autism'

Autistic Children: Sleep education helps families

Parent sleep education is beneficial in improving sleep and aspects of daytime behavior and family functioning in children with autism spectrum disorders (ASD), according to a Vanderbilt study published in the Journal of Autism and Developmental Disorders.

Vanderbilt joined with the University of Colorado Denver and the University of Toronto to carry out a study of 80 children with ASD, ages 2-10 years, primarily focused on teaching parents the basics of sleep education.

Beth Malow

"We found that one hour of one-on-one sleep education or four hours of group sleep education delivered to parents, combined with two brief follow-up phone calls, improved sleep as well as anxiety, attention, repetitive behaviour and quality of life in children with ASD who had difficulty falling asleep," said study author Beth Malow, M.D., professor of Neurology and Pediatrics, and the Burry Professor of Cognitive Childhood Development.

"The parents also benefited; they reported a higher level of parenting competence after completing the education sessions. The one-on-one and group sessions showed similar levels of success. In contrast, an earlier study that simply gave parents a pamphlet without guidance on how to use it did not provide the same level of improvement in child sleep."

Before entering the study, all children were examined for medical conditions that could cause sleep problems, such as gastrointestinal disorders or seizures.

In the instructional sessions, parents learned about daytime and evening habits that promote sleep, including the importance of increasing exercise, limiting caffeine during the day and minimizing use of video games and computers close to bedtime.

Sleep educators helped parents put together a visual schedule for their children to help them establish a bedtime routine and discussed ways to help children get back to sleep if they woke up at night.

Malow, also a Vanderbilt Kennedy Center investigator, said future studies are needed to determine the best approaches for providing sleep education to families, including those related to telemedicine and Internet-based technologies.

Malow and her colleagues within the Autism Speaks Autism Treatment Network are also developing partnerships with local pediatric practices to provide training on sleep education.

Content from the sessions is available to download for free on the Autism Speaks website. A toolkit, "Strategies to Improve Sleep in Children with Autism Spectrum Disorders," and three Quick Tips sheets are currently posted here.

"We are grateful to Autism Speaks for all of their support with our research and our toolkit materials. With their support, we have been able to help many children with ASD and their families get the rest they need to be at their best during the day," Malow said.

"We are also appreciative to all of the families who participated in this research."

Does Social media help autistic children ‘navigate the world’?

Jordan Hilkowitz is layering household products into a beaker for his latest science experiment.

Right beside his mom’s coffeemaker on the kitchen counter, he is preparing a video entitled Layers and Density, describing each step for his 3,800 YouTube channel subscribers and more than 1.5-million viewers.

It’s an extraordinary feat considering that five years ago, the 10-year-old autistic boy was non-verbal.

Jordan, better known as Doctor Mad Science, also has an audience of researchers who are intrigued by the fact that social media could be useful therapy for children with autism.

“I just want to say thank you to everyone who has written nice comments about my video’s [sic],” he posted on a previous video.

“I sometimes have a hard time making friends and I now know there are some nice people out there.”

One in every 150-160 children has been diagnosed with autism spectrum disorders, neurological conditions that affect communication and social interaction.

But a growing number of children and young adults are harnessing the power of social media to bring them out of their shells, bolster their confidence and tell their stories – giving scientists a new and potentially transformative avenue to explore in the already extensive field of autism research.

Autistic children have long been drawn to technology, but what is it about these new forms of social media that changes behaviour?

“That part is very much a mystery. But it’s certainly attracting the attention of researchers,” said Peter Szatmari, a leading autism researcher, who is the head of child psychiatry and behavioural neuroscience at McMaster University and McMaster Children’s Hospital in Hamilton, Ont.

One theory, Dr. Szatmari said, is that the human face doesn’t have the same drawing power for an autistic child, and that something about technology triggers the motivation that’s lacking in face-to-face contact.

“This can really have a big impact in helping people with ASD navigate the world and be able to do things that we never thought possible before,” he said.

Marc Sirkin, vice-president of social marketing at Autism Speaks, an advocacy group in the United States, said Jordan and others are using social media in such astounding ways that those who work with them are forced to take a second look.

Carly Fleischmann, a non-verbal autistic teen from Toronto, for example, tweets about her disorder and other topics to more than 24,000 followers, and Nichole Lee, a 21-year-old from Utah, has a YouTube channel where she posts video blogs and speaks about autism.

“We think about people with disabilities [as] being intellectually disabled. As it turns out, there’s a large part of the autism community that’s not intellectually disabled. They’re just unable to communicate,” Mr. Sirkin said.

Jordan began posting science experiments on YouTube a year ago with the help of a babysitter. His interest in science came at an early age – he collected rocks, worked on circuits and, at one point, installed pulleys all over his house.

When his focus turned to experiments, his babysitter suggested he appear on camera because she thought it would force him to work on his speech and perhaps gain confidence.

Jordan searches for kid-friendly science experiments online, conducts them before the camera, and helps edit the videos.

He’s made about $2,200 through his YouTube business, with the goal of earning enough to buy a Macbook.

For Jordan’s mother, the greater value is emotional.

Stacey Hilkowitz remembered that she once needed the help of security guards at the mall to remove Jordan when he was having a screaming fit, and how he would smash his head against the floor.

“I’m so embarrassed,” Jordan piped in, covering his face with his hands. Ms. Hilkowitz quickly turned the conversation to how Jordan has changed, crediting that transformation to his appearances on YouTube.

He’s loud and confident, his speech has improved, he has friends, and even served some time in school detention this year.

“I know it sounds funny, but those are the types of things we want to see,” said Ms. Hilkowitz, who has an older daughter also diagnosed with autism.

“This is a good year for you, Jordan, a very good year,” she said to her son.

Sometimes Jordan has wanted to quit. He has been hurt by comments about his voice and the fact that he doesn’t enunciate well.

These days, Ms. Hilkowitz deletes damaging comments early in the morning. Viewers try to boost his confidence as well. “Six dislikes?????? Don’t worry you can always knock back their job applications in twenty years time,” one wrote.

Jordan is buoyed by those comments. “It really gets to people,” he said. “Like with my disability, it really gets people realizing that anyone can do [anything].”

Autism: The Puzzle Symbol - Take Action

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Autism: Mirror Neurons and Self-understanding

Recent findings are rapidly expanding researchers' understanding of a new class of brain cells, mirror neurons, which are active both when people perform an action and when they watch it being performed.

Some scientists speculate that a mirror system in people's 'perception' forms the basis for social behaviour, for our ability to imitate, acquire language, and show empathy and understanding.

It also may have played a role in the evolution of speech. Mirror neurons were so named because they fire, both when an animal acts and when it simply watches the same action. They were thought to "mirror" movement, as though the observer itself were acting.

Advances in the past few years have newly defined different types of mirror neurons in monkeys and shown how finely tuned these subsets of mirror neurons can be.

New studies also have further characterized both normal and abnormal, mirror activity in the brains of children with Autism, a social communication disorder, suggesting new approaches to treatment.

"The tremendous excitement that has been generated in the field by the study of mirror neurons stems from the implications of the findings, which have led to numerous new hypotheses about behavior, human evolution, and neuro-developmental disorders," says Mahlon DeLong, MD, of Emory University School of Medicine.

Mirror neurons, a class of nerve cells in areas of the brain relaying signals for planning movement and carrying it out, were discovered 11 years ago, an offshoot of studies examining hand and mouth movements in monkeys.

Mirror neuron research in the intervening years has expanded into a diverse array of fields and the implications have been enormous, encompassing; evolutionary development, theories of self and mind, and treatments for schizophrenia and stroke.

Findings include new research based on work in monkeys, showing that subsets of mirror neurons distinguish between observed actions carried out within hand's reach and those beyond the animal's personal space.

Read more of this article here: Mirror, Mirror In The Brain: Mirror Neurons, Self-understanding And Autism Research

Autism: Link Found In Gene Mutations From Father

The number of Americans diagnosed with autism has skyrocketed since 2002. Now it affects every one in 88 children.

One of the biggest barriers to finding an effective treatment is that the cause of autism isn't known but biotechnology advances are shedding new light on the possible role of genetics.

"Ten years ago it was as if we were looking through binoculars, when we were looking at autism through a microscope, and now it's like looking at it in high definition," Andy Shih, vice president of scientific affairs for the advocacy group Autism Speaks, reported.

Now three separate studies, all published on Thursday in the journal Nature, have identified several gene mutations, many inherited from fathers, that may play a role.

"There's no one gene that causes autism," James Sutcliffe, co-author of one study and an associate professor of molecular physiology at Vanderbilt University stated.

"But what these studies do show is that several genetic mutations increase the risk of getting autism and different mutations may affect people in a different way."

The genes are likely inherited through the paternal line because as a man ages, his sperm cells are constantly dividing, which provides more opportunity for mutations to occur.

Women, on the other hand, are born with all of the egg cells they will have for life.

Each study found multitudes of mutated genes in autistic children but among the three, only two genes were found in more than one patient, suggesting to researchers that they may be the biggest risk factors.


"That is like throwing a dart at a dart board with 21,000 spots and hitting the same one twice," Dr. Matthew State, co-author of the second study and a professor of psychiatry at the Child Study Centre, Yale, told reporters. "The chances that this gene is related to autism risk are something like 99.9999 percent."


Some Opposition
Clearly, some researchers aren't considering this the breakthrough the study authors claim.

"This is a great beginning, and I'm impressed with the work, but we don't know the cause of these rare mutations, or even their levels in the general population," Aravinda Chakravarti, researcher at the John Hopkins Institute of Genetic Medicine, replied.

"I'm not saying it's not worth it to follow up these findings, but I am saying it's going to be a hard slog."

Approximately 15 percent of all autistic children will have some form of these genetic mutations, according to one of the studies but researchers said diagnosing autism by the gene mutations is still a long way off.

"The genes highlighted are clearly the most convincing susceptibility genes that have been identified so far, but they only explain a small picture of autism," Dr. Mark Daly, coauthor of Sutcliffe's study and chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital, reported.

Future research will focus on identifying other mutations that could play a role, researchers said.

Going Forward
"Now we have a real path forward," State said. "As you start to accumulate these individual genes that you know are related, that opens the door to understanding the biology. Once you know the gene, you can examine the protein it makes. Then, even in people who don't have the damaged gene, adding that protein may help because a deficit in that protein might result in their autism via a different pathway."

Scientists Link Rare Gene Mutations to Heightened Risk of Autism

Three teams of scientists working independently to understand the biology of autism have for the first time homed in on several gene mutations that they agree sharply increase the chances that a child will develop the disorder, and have found further evidence that the risk increases with the age of the parents, particularly the father.

The gene mutations are extremely rare and together account for a tiny fraction of autism cases, suggesting that the search for therapies will be a long one, and that what is loosely known as autism may represent a broad category of related but biologically distinct conditions.

There are likely hundreds, perhaps thousands, of rare mutations that could disrupt brain development enough to result in social and developmental delays.

But experts said that the overlapping results, reported in three papers posted online Wednesday in the journal Nature, give scientists working on the genetics of autism something they have not had: a clear strategy for building a real understanding of the disease’s biological basis.

Researchers hope to find more similar, rare mutations in the next year or so that they estimate could account for 10 percent to 20 percent of all cases.

Biologists have been groping in vain for a reliable, verifiable foothold from which to investigate the underlying genetics of so-called autism spectrum disorders, including Asperger syndrome and related social difficulties that are being diagnosed at alarmingly high rates — on average, in one of 88 children, according to a government estimate released last week.

Previous studies have produced a scattering of gene findings but little consensus or confidence in how to proceed.

The new work provides a measure of both, as well as strong backing for earlier studies linking autism to the age of new fathers.

“These studies aren’t so much a breakthrough, because we knew this was coming,” said Jonathan Sebat, a geneticist at the University of California, San Diego, who was not a part of the research teams.

“But I’d say it’s a turning point. We now have a reliable way forward, and I think it’s fair to expect that we will find 20, 30, maybe more such mutations in the next year.”

Other researchers were more cautious, saying that the genetics of rare mutations was not yet well enough understood to make conclusive statements about their effect on the behavior of specific genes.

“This is a great beginning, and I’m impressed with the work, but we don’t know the cause of these rare mutations, or even their levels in the general population,” said Dr. Aravinda Chakravarti, of the Institute of Genetic Medicine at the Johns Hopkins University Medical School, who was not involved in the studies.

“I’m not saying it’s not worth it to follow up these findings, but I am saying it’s going to be a hard slog.”

The three research teams took a similar approach, analyzing genetic material taken from blood samples of families in which parents who have no signs of autism give birth to a child who develops the disorder.

This approach gives scientists the opportunity to spot the initial mutations that accompany the condition, rather than trying to work though possible genetic contributions from maternal and paternal lines.

In all three studies, the researchers focused on rare genetic glitches called de novo mutations.

De novo mutations are not inherited but occur spontaneously near or during conception. Most people have at least one and the overwhelming majority of them are harmless.

Read more here: Scientists Link Rare Gene Mutations to Heightened Risk of Autism - NYTimes.com

Autism: Researchers Continue to hunt for causes

For many families, the quest for the causes of autism has grown more urgent with the news that the estimated prevalence of autism grew by 23% from 2006 to 2008, according to a Centers for Disease Control and Prevention report out last week.

In most cases, however, scientists can't tell parents what caused their child's autism, says Thomas Insel, director of the National Institutes of Mental Health. In large part, the causes of autism — which is likely not one disease, but a group of conditions with related symptoms — remain a mystery.

For years, scientists had only a few clues about the condition, noticing that autism is about four times as common in boys as in girls, for example.

Recently, scientists have found a number of risk factors for autism, many of which point toward problems that develop very early in life, such as during pregnancy or delivery, or even during the process of creating eggs and sperm, says Craig Newschaffer, a professor at Philadelphia's Drexel University.

To better understand causes of autism, researchers at four major universities are following 1,200 mothers of autistic children through a project called the EARLI study, or the Early Autism Risk Longitudinal Investigation.

Because researchers know that these moms are at high risk of having a second autistic child, they closely follow the women's subsequent pregnancies, testing blood, urine, hair, even vacuuming dust from the women's homes, says Newschaffer, one of the study's lead researchers.

Researchers ask pregnant women to keep lists of any illnesses, since infections during pregnancy are suspected of playing a role in autism.

Doctors can confidently reassure parents that one thing doesn't cause autism — vaccines, says Paul Offit, chief of infectious diseases at Children's Hospital of Philadelphia. Nearly two dozen studies have failed to find a link between autism and vaccines, whether given alone or in combination.

Researchers have clues to other causes:

Genes. About 15% to 20% of autistic children have a genetic mutation that causes their disorder, Insel says. Certain genetic disorders, such as Fragile X syndrome and Rett syndrome, are well-known for increasing the risk of autism.

Even when genes are the main contributor to autism, however, it's possible that most children have a unique mutation or set of mutations, says David Amaral, research director of the University of California-Davis MIND Institute.

Family history. If parents have one child with autism, the risk of having a second child diagnosed with the disorder is nearly 20%, according to a landmark study from U.C.-Davis. Among those with two autistic children, the risk of having a third is 32%, study author Sally Ozonoff says.

Environmental pollution. One California study published last year found that babies whose mothers lived near a highway while pregnant were more likely to be diagnosed as autistic.

Older parents. Both older father and mothers are at higher risk of having autistic children, Newschaffer says. Research from Israel and the Harvard School of Public Health also suggests that infertility treatments, which are more often used among older patients, are linked to a higher risk of autism.

Prematurity and low birthweight. An October study in Pediatrics found that, among babies born weighing less than about 4½ pounds, 5% had been diagnosed as autistic by age 21.

Medications. Many studies now show that a seizure treatment called valproic acid can increase the risk of autism in children exposed before birth. A single study published last year found a higher risk among children exposed prenatally to antidepressants. Using prenatal vitamins is also linked to a lower risk of autism.

Closely spaced pregnancies. In a 2011 study, children who were born less than one year after an older sibling were three times as likely to be diagnosed with autism, compared with children born three years after their mom's last pregnancy.

Autism: France's treatment 'shame' - The Mother's at Fault!

In many countries, the standard way of treating autistic children is with behavioural therapy, stimulating and rewarding them to develop the skills they need to function in society, but France still puts its faith in psychoanalysis, and an increasing number of parents are now demanding change.

For autism campaigners, it is one of the most serious health scandals of our times.

How for decades France turned its back on the latest scientific thinking, and treated autism as a form of psychosis.

How, as a result, tens of thousands of children were misdiagnosed, or worse, not diagnosed at all, and consigned to lives of misery.

And how, to this day, in its approach to autism, the French medical establishment continues to believe in the powers of psychiatry and psychoanalysis, long after the rest of the world has switched to alternative methods of treatment.

"It is an out-and-out disgrace," according to Daniel Fasquelle, a member of parliament who campaigns on the issue.

"Every day I am contacted by parents with the same story, how their child's autism was not detected in time, so they never had the treatment that they needed.

"Thousands of children could have been saved. They do it everywhere else. Why not here? It is France's shame."

The row over autism in France has festered unreported for years but recently it has become public.

Independent associations have been created, lobbying for a move away from psychoanalysis and psychiatry, and over to the "behaviourist" treatments that prevail elsewhere.

In early March, these groups scored an important victory - with a ruling from the health ministry that calls into question the use of psychoanalysis as a treatment for autism.

But the psychoanalysts are not taking it lying down. From their point of view, behaviourism is a form of superficial social conditioning that does not address root causes and they resent the way they have been typecast as the villains of the piece, when their aims are as sincere as those of their opponents.

"One thing that never pays in the field of autism is triumphalism," said Lauriane Brunessaux, a child psychiatrist. "Autism is far too complex, and we understand it so badly.

"Today it is the behaviourists who are being triumphalist."

The behaviourist approach to autism was developed in the 1970s and 80s in the US and Canada, and it is now the norm in most of the world.

Under the so-called ABA method (Applied Behavioural Analysis), autism is treated as primarily an educational, rather than a medical, problem.

With a set of rewards (which can be granted or withheld) and with plenty of individual attention, children can learn to function in society, and be much less of a burden on their families.

"If you diagnose early, and then give the right treatment between the ages of two and seven, 70% of autistic children can acquire functional language skills. Here in France, we are way off that figure," says Fasquelle.

"And the same pattern continues later in life. In the UK, there are 17 times more university students with autism than in France. It is unacceptable."

Fasquelle and autism associations argue that the blame lies with a medical establishment that remains fixated with Freud.

"Today everyone knows that autism is a neuro-developmental problem. It is not a psychosis or mental disorder," says Muhamed Sajidi, president of the association Conquer Autism.

"But in France it is the psychiatrists, heavily influenced by Freudian psychoanalysis, who remain in charge and they have shut themselves off from all the changes in our knowledge of autism."

Sajidi set up the association after his life was "destroyed", as he puts it, by the medical establishment's failure to diagnose his son Sami's autism.

For him, as for many others, one of the worst aspects is how blame for autism has been laid at the door of the child's parents, and more especially of the mother.

"The first time I went to see a doctor when my (autistic) son Gael was three and we thought there was a problem, the psychiatrist asked me if I had wanted him - if it had been a wanted pregnancy!" says Candy Lepenuizic, a British woman married to a Frenchman.

"Then she asked what sort of dreams I had had while I was pregnant with him. And suggested the whole family have a course of psychotherapy.

"At that point I got up and walked out. It was only because I had been warned this might happen that I did not burst into tears."

Such horror stories are typical in French families of autistic children.

"The whole idea was that it was la faute à maman (the mother's fault). It was the 'refrigerator mum', or there was some problem with the family dynamic," says Lepenuizic.

"They thought that if the child was failing to communicate with the outside world, it was because of some trauma in the womb or in very early life. There was a family malfunction, and we had to cure it!"

Critics say this emphasis on psychoanalysis and relationships meant that autistic children were not spotted till far too late. And that, in turn, meant that their chances of effective treatment were sharply reduced.

Some 60% of autistic children in Sweden attend school, Sajidi says.

"Today only 20% of autistic children in France are in school, and often only part-time. The rest are either in psychiatric hospitals, or in medico-social centres, or living at home - or in Belgium," says Sajidi.

"Many families are sending their children to Belgium, where it is much easier to set up behaviourist treatment centres.

"Things are changing now, because parents are refusing to be taken for a ride by the professionals. But the real tragedy is with France's autistic adults, many of whom are in a state of total incomprehension or even self-mutilation.

"Seventy-five percent of families with autistic children end in divorce, and normally it is with the mother that the autistic person stays.

"Today these poor elderly women are looking after their adult children with no knowing what will happen when they die."

If Sajidi and other campaigners are beginning to feel the wind turn, it is because the health ministry is finally beginning to fund pilot schemes for behaviourist schools, as well as early diagnosis centres.

In its recent report, the ministry also effectively outlawed a practice known as "packing" where autistic children are wrapped in damp cloths in order to reconnect with their bodies. Campaigners say the treatment is both barbaric and ineffective.

The fundamental problem, campaigners argue, is that the psychiatric profession is resisting calls for change, because the fewer patients there are, the less they earn.

"They have a financial interest in institutionalising autistic children," says Sajidi.

Lepenezuic says: "The state pays. The child doesn't get any better - but who cares? It's being looked after by the state, and the doctors are making a lot of money. Why would they change the system?"

But on the other side of the fence, such charges are deeply resented.

Child psychiatrists like Lauriane Brunessaux believe that the associations have grossly distorted the debate, and are engaged in a battle to "discredit psychoanalysis and the whole notion of the unconscious".

Defenders of the French system argue that the situation was never as one-dimensional as the behaviourists have claimed.

First of all, they say, there have been plenty of success stories emanating from a psychoanalytical treatment of autism. They just have not been so loudly trumpeted.

Secondly, it is not as if the behaviourist approach is itself beyond criticism. In the US and Canada, argues Brunessaux, there have been studies that raise serious questions over its true scientific validity.

"The only real scientific reference for behaviourism is the electric shock experimentation on rats carried out by (US psychologist) Burrhus Skinner in the 1940s.

"Obviously the methods of reward and punishment today are totally different. But that is the background to behaviourism," she says.

For leading French psychoanalyst Eric Laurent, there is a deeper problem.

"Changing behaviour is one thing. But what do you do with the trouble that lies behind it? It is all very well to focus on the skills that can be transmitted via an intensive behaviourist approach, but that leaves a whole dimension out of the picture," he says.

As for the charge that psychoanalysts are responsible for family breakdown, Laurent is equally dismissive.

"The idea that you had to wait for psychoanalysts to come along for there to be hatred inside families is ridiculous. Hatred has always been there.

"Psychoanalysis is being used as a scapegoat - though we should not perhaps mind that, as being a scapegoat is part of the role of psychoanalysis," he says.

What angers people like Brunessaux and Laurent is that while on their side of the debate they are quite prepared to admit the effectiveness of behaviourism - as one of several possible approaches to autism - the behaviourists are dogmatically tied to their system and theirs alone.

Whoever is ultimately in the right, what the autism row perhaps shows most clearly is the changing nature of French society.

Once, families did what they were told. The state was ultimately benevolent, and had massive resources to dispense. If doctors chose institutionalisation, then who was to argue?

Today it is different. Thanks to the spread of knowledge, the internet, consumerism and the decline of the collective spirit - families for the first time feel emboldened to think, and act, for themselves.

Autism: Why Some Children ‘Bloom’ and Overcome Their Disabilities

A new study offers some good news for families with autism. Most children affected by the disorder do not have intellectual disabilities, the study finds, and even among the severely low-functioning, about 10% may improve dramatically over time, with some growing out of their diagnosis by their teens.

The study tracked nearly 7,000 autistic children born in California between 1992 and 2001. The group included most of the children who received an autism diagnosis in the state during that time period.

The kids were followed from diagnosis to age 14 or the oldest age they had reached by the time the data collection was concluded.

The researchers found that 63% of the children did not have intellectual disabilities. Although autism is known to cause cognitive deficits in some children, it is also associated with certain enhanced intellectual abilities, and some affected children have extremely high IQs.

About one-third of the study group were considered low- to low/medium-functioning in terms of communication and social skills, meaning that they may have trouble talking, interacting with others or socializing and making friends with peers.

High-functioning kids with autism, meanwhile, can communicate effectively with others, maintain friendships and are willing to engage in social pursuits.

While the highest-functioning children tended to show the most improvement over time in the California study, about 10% of those who started out in the low-functioning group also moved into the highest group by age 14.

“The critical finding is that when you look at those children that this study refers to as ‘bloomers’, the children who seemed very low-functioning at the beginning and then did extremely well, they [tend not to] have any intellectual disabilities,” says Rahil Briggs, assistant professor of pediatrics at Albert Einstein College of Medicine, she was not associated with the research.

Low-functioning children without intellectual disabilities were twice as likely to “bloom” as those who had cognitive deficits.

Briggs adds that another “very key” factor is that the mothers of the kids who bloomed tended to be more educated and not minorities.

This suggests that low-income immigrant or minority families may not be receiving the services and support for their children that educated, affluent parents are able to access more easily.

With developmental disorders, the earlier a child receives help, the more likely he or she is to overcome disabilities.

Early intervention matters because the brain is remarkably vulnerable early in life, built to shape itself to the environment it initially faces. “The young brain is disproportionately receptive to input, whether positive or negative,” says Briggs.

“That’s why young children can learn a second language easily and why early exposure to domestic violence and toxic stress are so incredibly damaging.”

If autistic children receive intervention before such coping mechanisms as repetitive behaviours and extreme social withdrawal are firmly entrenched, for example, their innate oversensitivity to their environment is far less likely to become or remain disabling, and their other abilities and gifts can flourish.

If these children are reached early enough, “we can actually start to change brain functioning if we provide the right kind of repetitive and focused intervention,” Briggs says.

Parents Need to be Aggressive Champions
The American Academy of Pediatrics currently recommends that doctors screen children for autism at their 18-month well-child visit. Briggs adds that parents must become aggressive champions for their children.

“So much can depend on how good that parent is at advocating for the child,” says Briggs, noting that parents need to be aware not only of what services are available, but also which ones are best, which are not helpful and how to get the best care.

“That puts an incredible burden on parents,” she acknowledges. With the Centers for Disease Control and Prevention reporting last week that autism now affects 1 in 88 children, it is becoming a burden shared by more and more American families.

Briggs says that the findings in the new study reflect the types of developmental trajectories she sees in children in her practice as director of the Healthy Steps program at Montefiore Hospital in the Bronx (NY), which helps disadvantaged families access numerous services, including autism therapies, through their pediatricians’ office visits.

She describes working with a 5-year-old autistic boy and his family. The family said he would come home from kindergarten crying, but they couldn’t figure out what was wrong.

Finally, he described how he felt while he waited for his mother to pick him up in the school’s cafeteria:
“There were so many echoes bouncing off the walls that it felt like people were having a party in my head and they wouldn’t turn down the music,” he said.

Identifying the problem led Briggs to enroll the boy in listening therapy, which helped him cope with his sensitivity to sounds.

When such sensory issues, which are common in autism, can be mitigated, children become far less stressed and far better able to learn other skills like social interaction and communication.

Most children from disadvantaged backgrounds aren’t able to get these kinds of services, however. “If we still see these huge differences in children with autism based on socioeconomic factors, we clearly don’t have enough programs or haven’t made them available enough,” Briggs says.

The research was published in Pediatrics.

Serotonin Levels: Protein in overdrive links to Autism (ASD)

Early disruptions in serotonin signaling in the brain may contribute to Autism Spectrum Disorder (ASD) and other “enduring effects on behavior,” researchers report.

Serotonin is a brain chemical that carries signals across the synapse, or gap between nerve cells. The supply of serotonin is regulated by the serotonin transporter (SERT).

In 2005, a team of researchers from Vanderbilt University led by Randy Blakely and James Sutcliffe identified rare genetic variations in children with ASD that disrupt SERT function.

In a new study published this week in the Proceedings of the National Academy of Sciences (PNAS), the researchers report the creation of a mouse model that expressed the most common of these variations.

The change is a very small one in biochemical terms, yet it appears to cause SERT in the brain to go into “overdrive” and restrict the availability of serotonin at synapses.

“The SERT protein in the brain of our mice appears to exhibit the exaggerated function and lack of regulation we saw using cell models,” says Blakely, director of the Vanderbilt Silvio O. Conte Center for Neuroscience Research.

“Remarkably, these mice show changes in social behavior and communication from early life that may parallel aspects of ASD,” notes first author Jeremy Veenstra-VanderWeele, assistant professor of psychiatry, pediatrics and pharmacology.

The researchers conclude that a lack of serotonin during development may lead to long-standing changes in the way the brain is “wired.”

In 1961, investigators at Yale University discovered that as many as 30 percent of children with autism have elevated blood levels of serotonin, a finding described as “hyperserotonemia.”

Since then, these findings have been replicated many times. Indeed, hyperserotonemia is the most consistently reported biochemical finding in autism, and is a highly inherited trait. Yet, the cause or significance of this biomarker has remained shrouded in mystery.

Until now. In the current study, Veenstra-VanderWeele, Blakely and their colleagues showed that they could produce hyperserotonemia in mice that express a variant of a human SERT gene associated with autism.

Because the genetic change makes the transporter more active, higher levels of serotonin accumulate in platelets and therefore in the bloodstream.

In the brain, overactive transporters should have the opposite effect—lowering serotonin levels at the synapse and producing behavioural changes relevant to autism. That’s exactly what the researchers observed.

Of course, no mouse model can completely explain or reproduce the human condition. Neither does a single genetic variation cause autism. Experts believe the wide spectrum of autistic behaviours represents a complex web of interactions between many genes and environmental factors.

But animal models are critical to exploring more deeply the basis for the developmental changes that are observed in ASD.

The scientists are using these mice to explore how altered brain serotonin levels during development may produce long-lasting changes in behaviour and impact the risk for autism.

Scientists from the National Institute of Mental Health, the Medical University of South Carolina and the University of Texas Health Science Center in San Antonio contributed to the study.

The research was supported by the National Institutes of Health, the advocacy organisation Autism Speaks (UK), and the American Academy of Child and Adolescent Psychiatry.

More news from Vanderbilt University: news.vanderbilt.edu/research

Autism: Are apps the key to revolutionising learning?

Technology has completely and utterly changed Veronica's life.

"She has gone from being a little girl who had no way of showing us how much she knew, to a little girl who now has a portable device she can laugh, play and engage with," says her mother Sam Rospigliosi, from Edinburgh.

"Who knows, she might even use it as her voice in the years ahead if she never learns how to speak again."

Veronica is six years old and severely affected by autism. She has significant learning difficulties and finds many social situations very difficult. She lost all her speech three years ago.

But in common with many other children like her, touchscreen computers have provided a way of learning and communicating that plays to her strengths.

As a result, devices like iPads are fast becoming a 'must-have' for many families of children with autism.


Find Me App Demo from Interface3 on Vimeo.

Richard Mills, head of research at Research Autism and the National Autistic Society, says the technology is an opportunity to take "a huge step forward in our understanding of autism".

"They allow us to have an insight into how children think. People with autism have a different kind of intelligence. Their visual memory is strong, so PCs are highly motivating."
Token incentive

When Veronica took part in the trial of a new iPad app called FindMe, designed by a team of researchers at the University of Edinburgh, she loved the experience.

"Every time Veronica got an answer right, she got a token and she knew she had to get five tokens to get to the musicbox," her mum says.

"She was very motivated to answer the questions."

Aimed at non-verbal children from the age of 18 months upwards, the app encourages players to focus on other people and their needs, something people with autism find difficult.

Dr Sue Fletcher-Watson, a psychologist from the University of Edinburgh who led the app's development, says using touchscreen technology is crucial.

"A mouse and keyboard are not accessible for the youngest children. Early intervention is key for the most severely affected and iPads have allowed us to design for youngest ages.

"The app allows children to rehearse simple social skills over and over again. Practice makes perfect."

Read more of this article here

When the shrieking child is your son - Real Families

A harrowing story from a mother who's son sufferers from Autism Asperger's syndrome. Unfortunately, it is a story many mothers will be all too familiar with. I have included it here to share her experiences with other mothers who are facing the same difficulties.

"My son has Asperger's syndrome. Most people have heard of it by now; even Facebook founder Mark Zuckerberg is rumored to have it. I have my doubts, though. I see little resemblance between the billionaire genius and my 4-year-old son. I wonder if the Facebook founder had daily, explosive, irrational fits when he was 4. I wonder if his mother drank.

I first realize we have a problem when my son is 18 months old. My family tells me his screaming fits are just his way of "pressing my buttons." They say I'm spoiling him; that's why he throws tantrums when he doesn't get his way. But they can't explain his extreme negative reactions to large crowds and loud noises. Once when we're in a public restroom, the automatic toilet flushes, and my son throws himself against the door and begins beating on it in his desperation to get away. The lady in the next stall glares at me when she comes out. I know she thinks I was hitting him. Another time at church, the organist starts playing, and my son dives under the pew in front of him. The man beside us moves over, far over.

I think my little boy is just sensitive, until at age 3, he starts having bathroom issues. He holds it all in until his little tummy was bloated, and once he doesn't go for four days."

The article continues to describe how she takes her son from doctor to doctor with varying degrees of trauma and success. Read the remainder here

Autism: refering to themselves as 'you'

One of the first things that autism pioneer Leo Kanner noticed about the children he was seeing was that they had a tendency to refer to themselves as 'you,' echoing his phrasing of questions he asked them.

Nearly 70 years later, we have a technology — functional magnetic resonance imaging, or fMRI — that can peer into the brain to illuminate which regions are involved when people switch personal pronouns in conversation. This task, called deictic shifting, is impaired not just in children with autism, but also in some adults with the disorder.

A new fMRI study published in Brain in July reports that connectivity between two brain regions involved in self-awareness is greatly reduced in people with autism when they engage in deictic shifting.

In the study, researchers presented 15 adults who have high-functioning autism, all but one of them male, and 15 matched controls with images of the front and back covers of a book held by a woman named Sarah. The book covers depict different objects, for example, a carrot on the front and a house on the back. Sometimes Sarah opens up the book to display both covers and sometimes she folds the book so that only one cover is visible.

Over 24 trials, Sarah asked study participants four variations on a single question: "What can ? see now?" Half the time, the "?" was the proper name of the participant or Sarah. The other half of the time, Sarah used a pronoun, either 'you' or 'I.'

In this manner, participants had to execute a series of rapid shifts between "What do you see now?" to "What do I see now?", "What does Sarah see now?" and "What does (participant's first name) see now?"

The researchers found that people with autism respond more slowly and less accurately to questions that require them to shift perspective from 'you' to 'I.' The scans revealed that connectivity between the right anterior insula and the precuneus is significantly lower among individuals with autism when carrying out this task.

Conversely, the precuneus is far more active in the individuals with autism when they're confronted with proper names, suggesting that this brain region is working overtime to properly identify self versus other.

These results suggest that pronoun reversals in autism are not simple semantic glitches. Instead, they appear to provide yet another example of the profound impairment in autism of the ability to understand self and other in reciprocal relationships.

After all, if I can't distinguish between you and me, how can I ever get to the immeasurably more complex category: We.

School Related Linguistic Abilities in Siblings of Children with Autism

A recent study proposes that Siblings of probands with autism spectrum disorders are at higher risk for developing the broad autism phenotype (BAP).

They compared the linguistic abilities (i.e., pragmatic language, school achievements, and underling reading processes) of 35 school-age siblings of children with autism (SIBS-A) to those of 42 siblings of children with typical development.

Results indicated lower pragmatic abilities in a subgroup of SIBS-A identified with BAP related difficulties (SIBS-A-BAP) whereas school achievements and reading processes were intact.

Furthermore, among SIBS-A-BAP, significant negative correlations emerged between the severity scores on the Autism Diagnostic Observation Schedule and full and verbal IQ scores.

These results are discussed in the context of the developmental trajectories of SIBS-A and in relation to the BAP.

Read the full paper and it's findings here: http://www.ncbi.nlm.nih.gov

Study of Twins suggests Genetic component of autism spectrum disorders may be more environmental

After evaluating twin pairs in which at least one child has autism or autism spectrum disorder (ASD), researchers suggest that the shared environment may play a more substantial role in development of the condition than shared genes do, according to a report published Online First by Archives of General Psychiatry, one of the JAMA/Archives journals.

Current estimates suggest that 40 of every 10,000 children have autism, and prevalence rates for ASDs are about 1 percent, according to background information in the article. Studies of siblings have found a concordance rate (the likelihood that if one child has the disorder, others will as well) of up to 14 percent.

The authors note that in previous studies of twins, concordance rates for autism were relatively high for identical (monozygotic) twins, but nonexistent for fraternal (dizygotic) twins. Further, studies that depended on differing methods of diagnosis have resulted in a broad range of estimates of autism's heritability.

"However," the authors state, "none of these more recent studies included structured clinical assessments by both parental interview and direct child observation, which is the contemporary standard for establishing the diagnosis of autism or ASD."

In the California Autism Twins Study, Joachim Hallmayer, M.D., from Stanford University School of Medicine, Palo Alto, Calif., and colleagues used data from the California Department of Developmental Services to identify potential participants.

The researchers assessed twin pairs in which at least one child had an ASD diagnosis, using the Autism Diagnostic Interview-Revised, a structured parent interview and the Autism Diagnostic Observation Schedule, as well as other tests to determine verbal and nonverbal cognitive abilities.

Two diagnoses were utilized: strict autism and ASD. Children with autism or ASD that was included in the initial data and confirmed by the researchers were considered "probands."

The final analysis included 54 pairs of identical twins and 138 pairs of fraternal twins (of which 80 were composed of a boy and a girl). Researchers found the likelihood of both children having autism or ASD was higher among identical twins than among fraternal twins.

They also used modeling to estimate how much of the risk could be attributed to genetic factors. This analysis demonstrated that more than half of the variance in risk was probably explained by shared environmental factors, versus less than 40 percent of the risk owing to genetic heritability.

"The results suggest that environmental factors common to twins explain about 55 percent of the liability to autism," the authors write. "Although genetic factors also play an important role, they are of substantially lower magnitude than estimates from prior twin studies of autism. …

The finding of significant influence of the shared environment, experiences that are common to both twin individuals, may be important for future research paradigms."

Read more here

Why Does Brain Development Diverge from Normal in Autism Spectrum Disorders?

Rett syndrome, a neurodevelopmental disorder on the autism spectrum, is marked by relatively normal development in infancy followed by a loss of cognitive, social and language skills starting at 12 to 18 months of age.

It is increasingly seen as a disorder of synapses, the connections between neurons that together form brain circuits. What hasn't been clear is why children start out developing normally, only to become progressively disadvantaged.

New research from Children's Hospital Boston, published in the April 14 issue of Neuron, helps unravel what's going on.

The researchers, led by Chinfei Chen, MD, PhD, of Children's F.M. Kirby Neurobiology Center, studied synapse development in mice with a mutation in the MeCP2 gene, the same gene linked to human Rett syndrome.

They found strong evidence that the loss of functioning MeCP2 prevents synapses and circuits from maturing and refining in response to cues from the environment -- just at the time when babies' brains should be maximally receptive to these cues.

Chen believes her findings may have implications not just for Rett syndrome, but for other autism spectrum disorders. "Many ASDs manifest between 1 and 2 years of age, a period when kids are interacting more with the outside world," says Chen.

"The brain of an autistic child looks normal, but there's a subtle difference in connections that has to do with how they process experiences. If you could diagnose early enough, there might be a way to alter the course of the disease by modifying experience, such as through intense one-to-one therapy."

Chen and colleagues focused on a synaptic circuit in the brain's visual system that is relatively easy to study, known as the retinogeniculate synapse.

It connects the cells receiving input from the eye to the lateral geniculate nucleus, an important relay station in the brain's thalamus. Visual input from the outside world, during a specific "critical period," is crucial for its normal development.

The team tested the functioning of the circuit by stimulating the optic tract and measuring electrical responses in the thalamus to see how the neurons were connected, and how strong the connections were.

In MeCP2-mutant mice, these recordings indicated that the visual circuit formed normally at first, and that during the second week of life, weaker connections were pruned away and others strengthened, just as they should be.

But after day 21 of life -- after mice open their eyes and when the visual circuitry should be further pruned and strengthened based on visual experience -- it became abnormal. The number of inputs and connections actually increased, while the strength of the synapses decreased.

This pattern was similar to that seen when normal mice were kept in the dark after day 21, depriving them of visual stimulation. Together, the findings suggest that MeCP2 is critically important to our ability to refine synaptic circuits based on sensory experience, says Chen. Without MeCP2, the circuit fails to incorporate this experience.

"During this last phase of development, you need sensory input to lock down and stabilize the connections," Chen explains. "But the circuit is not getting the right signal to stabilise, and continues to look around for the right connections."

Targetting Core Social Deficits of Autism

Targeting the core social deficits of autism spectrum disorders (ASD) in early intervention programs yielded sustained improvements in social and communication skills even in very young children who have ASD, according to a study funded by the National Institute of Mental Health (NIMH).

The study was published online December 8, 2010, in the Journal of Child Psychology and Psychiatry.

Although some research suggests that ASD may be reliably diagnosed earlier than the current average age of 3 years, few interventions have been tested in children younger than 3.

During the course of typical development, children learn to interact with others in socially meaningful ways. Measures of social communication include:

• Initiation of joint attention -- spontaneously directing others' attention to something of interest, such as by pointing or holding something up to show for social purposes rather than to ask for help
• Affect sharing -- sharing emotions with others through facial expressions paired with eye contact
• Socially engaged imitation -- imitating others' actions while showing social connectedness through eye contact.

Deficits in such measures are hallmark symptoms of ASD and can severely limit a child's ability to engage in and learn from interactions with others or from the world around them.

"This new report is encouraging, as the effects on social behavior appear to provide a scaffold for the development of skills beyond the research setting," said NIMH Director Thomas R. Insel, M.D. "We need better early interventions for the core deficits of autism."


The interventions were designed to encourage children to make frequent and intentional efforts to engage others in communication or play. The single difference between interventions was that the IS group received more opportunities for joint attention, affect sharing, and socially engaged imitation. The toddlers were assessed at the start and end of the intervention and again six months later.

Children in both groups made improvements in social, cognitive and language skills during the six-month intervention period. Children who received IS made greater and more rapid gains than those in the non-IS group.

The researchers also noted that children in the IS group used their newly acquired abilities with different people, locations, and type of activity. This is noteworthy because children with ASD have particular difficulty doing so. They tend to use new skills mostly within familiar routines and situations.

Journal Reference:

1. Rebecca J. Landa, Katherine C. Holman, Allison H. O’Neill, Elizabeth A. Stuart. Intervention targeting development of socially synchronous engagement in toddlers with autism spectrum disorder: a randomized controlled trial. Journal of Child Psychology and Psychiatry, 2010; DOI: 10.1111/j.1469-7610.2010.02288.x

Scottish Government's Strategy for Autism - Document in PDF format

The Scottish Government, working in partnership with the Autism Specturm Disorder (ASD) Reference Group, have developed a draft Scottish Autism Strategy.

The Strategy sets out what the Scottish Government in partnership with users, carers and professionals proposes to do to meet the needs of people with ASD in response to growing concerns that, whilst much has been achieved in Scotland to date, much has yet to be done.

Click on the picture to view the document

LEGO Therapy for Autism and other developmental issues

“In every day life we need to be able to respond to new situations,” says Deborah Napolitano, assistant professor of pediatrics at the University of Rochester. “If a child has only a repetitive set of skills, and has difficulty being creative, it can be more difficult to be successful.”

Many children with autism spectrum disorder can become frustrated and uncomfortable when asked to break out of their repetitive activities and create something new.

Using Applied Behaviour Analysis (ABA), is losely defined as, the science of figuring out how to target and systematically change a specific behaviour. In this instance, researchers believe they succeeded in teaching children to play with Lego and building blocks, in a more creative way.

The study’s findings have been published in the Journal of Applied Behavioural Analysis.

By the end of the study the participants, six children between the ages of 6 and 10, succeeded in making changes to the structures they were working on.

According to a behaviour scale assessment that each participants’ parent or teacher completed, five (5) of the six (6) had moderate problems with restricted, repetitive behaviour. One-to-one sessions with building blocks took place at the participants’ schools, in rooms with minimal distractions.

“We really can teach kids just about anything as long as it’s systematic,” Napolitano says.

Baseline
Children received positive verbal reinforcement when they were building with Lego. This allowed researchers to get baseline data and to decide whether the child seemed inclined to change the colour patterns or structures. After acquiring the data, researchers began with the first intervention phase.

First Intervention
The first phase of the study included a set of sessions that took place over several months. An instructor asked a child to build something new at the beginning of each session.

If a child seemed confused about what he or she was being asked to do, the instructor demonstrated how to build something different and then prompted the child to build something different.

If the child then understood and succeeded in building something new, he or she was rewarded with a small prize, such as playing with a favourite toy.

Moving from Lego
In the next phase, the instructor asked the children to build something new with wooden blocks, rather than the plastic Lego blocks they had grown accustomed to, to see whether they could apply the new skills to a slightly different situation from the one they were now accustomed to.

Return to lego
The instructor then returned the Lego to the children once again, without any prompting. Words of encouragement were offered but not a prize to see whether the children would still experiment.  In this last phase, the children were once again rewarded for varying their structures.

Follow-up
A few months later, researchers followed up the activities with the children and found that they were all still able to create new structures in varying colours or shapes.

Summary
“The study’s findings could pave the way for new studies testing interventions that attempt to improve a wide variety of social skills and behaviors among people with ASD,” says Napolitano.

“With positive reinforcement and teaching sessions, such tasks as engaging in novel conversations, posing new questions, and creating new ways to play could be within reach for children with ASD.”

More news from University of Rochester: www.urmc.rochester.edu/news/