9/26 -Latest in Autism News

The language of senses

Sight, touch and hearing are our windows to the world: these sensory channels send a constant flow of information to the brain, which acts to sort out and integrate these signals, allowing us to perceive the world and interact with our environment. But how do these sensory pathways emerge during development?

Sight, touch and hearing are our windows to the world: these sensory channels send a constant flow of information to the brain, which acts to sort out and integrate these signals, allowing us to perceive the world and interact with our environment. But how do these sensory pathways emerge during development? Do they share a common structure, or, on the contrary, do they emerge independently, each with its specific features? By identifying gene expression signatures common to sight, touch and hearing, neuroscientists at the University of Geneva (UNIGE), Switzerland, discovered a sensory "lingua franca" which facilitates the brain's interpretation and integration of sensory input. These results, to be published in Nature, pave the way toward a better understanding of perception and communication disorders.

The ability to detect and sort various kinds of stimuli is essential to interact with surrounding objects and people, and to communicate correctly. Indeed, social interaction deficits in people living with autism appear to be partly due difficulties in detecting and interpreting sensory signals. But how does the brain interpret and integrate the stimuli sent by our five senses? It is this very question which Denis Jabaudon, Professor at UNIGE Faculty of Medicine and his team have addressed. 'We studied the genetic structure of tactile, visual and auditory pathways in mice,' explains Laura Frangeul, the study first author. 'By observing neuronal gene expression in these distinct pathways during development, we detected common patterns, as if an underlying genetic language was bringing them together.'

A common language with tailored modulations

The Geneva neuroscientists' results thus reveal that during development, the various sensory pathways initially share a common gene expression structure, which then adapts to the activity of the organ attached to each sense. 'This process only takes a few days in mice but could take up to several months in human beings, whose development is much longer and very sensitive to the environment,' underlines Denis Jabaudon.

This genetic 'lingua franca' therefore allows the various sensory pathways to be built according to a similar architecture regardless of their very different functions. It is this shared language that allows the brain to accurately interpret stimuli coming from different sources, and to compose a coherent representation of their combined meaning.

Constant and necessary interactions

Sharing the same building plan also explains how various pathways can mutually balance out, for example when touch or hearing become highly over-developed in people born blind. This discovery also explains why sensory interferences, including synesthesias and hallucinations, can occur in people suffering from neurodevelopmental disorders such as autism or schizophrenia.

Denis Jabaudon concludes: 'Our results allow us to better understand how the brain circuits which build our representation of the world assemble during development. We are now able to examine how these findings could be put to use to repair them when they fail.'

September 26, 2016, by Université de GenèveNote: Content may be edited for style and length.


9/20 - Latest in Autism News

Link discovered between touch of individuals with autism, their social difficulties

The sense of touch may play a more crucial role in autism spectrum disorder (ASD) than previously assumed. The main findings of the research show that individuals with ASD may have difficulties to determine which tactile sensations belong to the action of someone else.

The sense of touch may play a more crucial role in autism spectrum disorder (ASD) than previously assumed. The main findings of the doctoral research of Eliane Deschrijver, which are now published, show that individuals with ASD may have difficulties to determine which tactile sensations belong to the action of someone else.

ASD: social problems and sensory sensitivities

Many individuals with ASD are over- or undersensitive to sensory information. Some feel overwhelmed by busy environments such as supermarkets, others are less sensitive to pain, or dislike being touched.

Large-scale queries in the scientific literature had reported already that the severity of daily social difficulties of individuals with ASD is strongly related to the extent to which they are sensitive to touch, more so than to the extent to which they show visual or auditory sensitivities. To determine why this is the case, Eliane Deschrijver and her colleagues investigated how the brain of individuals with and without ASD uses own touch to understand touch sensations in the actions of others.

Prof. dr. Marcel Brass clarifies: We think that the human brain uses the own sense of touch to distinguish one's self from others: When I perform an action that leads to a tactile sensation, for instance by making a grasping movement, I expect to feel a tactile sensation that corresponds to this. If my own touch tells me something else, the tactile sensation will probably belong to the other person, and not to me. The brain can thus effectively understand others by signaling tactile sensations that do not correspond to the own sense of touch."

Neuroscientific research

In a series of experiments with electro-encephalography (EEG) conducted at Ghent University, the scientists showed that the brain activity of adults with ASD differs from that of adults without ASD while processing touch.

The research showed that the human brain of individuals without ASD indicated very quickly when a tactile sensation does not correspond to the own sense of touch. This means that the human brain is able to signal that a tactile sensation of a finger that touches a surface does not correspond to own touch.

This process occured otherwise in the brain of adults with ASD however. Their brain signaled to a much lesser extent when the external touch sensation did not correspond to their own touch. Those individuals that experienced stronger sensory difficulties showed a stronger disturbance of the neural process, while they were also the ones that experienced more severe social difficulties.

"It is to my knowledge the first time that a relationship could be identified between the way individuals with ASD process tactile information in their brain, and their daily social difficulties. The findings can yield a novel and crucial link between sensory and social difficulties within the autism spectrum," concludes Eliane Deschrijver.

"These findings primarily lead to a better understanding of the complex disorder, and of associated difficulties. It is yet too early to conclude on the impact on interventions. If the results can be confirmed in future studies of other groups with ASD, such as (young) children, they could provide a target for optimizing treatment," according to prof. dr. Wiersema.

The research was conducted within the novel research centre EXPLORA at Ghent University, led by prof. dr. Roeljan Wiersema and prof. dr. Marcel Brass (also promotors of the PhD dissertation). The findings regarding ASD were published online last week in Social, Cognitive and Affective Neuroscience last week, a journal in which the findings regarding adults without ASD were also published in 2015.

September 15, 2016,  by Ghent University.

9/15 - Latest in Autism News

It was a heart-shattering April that Leslie Bolen will never forget.

Five months ago, her son Michael died at age 14 after a seizure caused him to go into cardiac arrest and suffer anoxic brain injury, which occurs when there is a lack of oxygen in the brain.

    Michael, who had a severe form of autism, also had a history of epilepsy. About 20% to 30% of children with autism spectrum disorder develop epilepsy by the time they reach adulthood, according to the National Institute of Neurological Disorders and Stroke. 

    "Regardless of their abilities, regardless of their illnesses, unless it is diagnosed and expected, you really just don't think your child is going to pass away before you," Bolen said.

    Michael Bolen,14, died from seizure complications in April.

    As Bolen stood in a cold hospital room with her husband, in complete shock at their loss, she heard a doctor ask whether Michael's organs would be donated -- and then she had an idea.

    "I said, 'Well, what about his brain?' And [the doctors] said, 'Excuse me?'

    And I said, 'Well, you know, epilepsy is the way that he died, but autism is the way he lived.' "

    Bolen and her family donated Michael's brain to a national program called Autism BrainNet, a network of research institutions that facilitates the study of autism using the brain tissue of deceased patients who had the developmental disorder.

    Michael's family hopes that his brain may help scientists gain crucial insights into autism spectrum disorder, which Michael lived with and that affects about one in 68 children in the United States

    Loving and losing a son with autism

    The moment Michael Bolen was born, he let out a piercing cry and commanded the attention of the room. Just like that, his mother said, he always seemed to know how to capture the interest of everyone around him.

    "I'm not joking, from the moment he was born," Leslie Bolen said as she reminisced about the day she gave birth to her second child in 2001.

    Epilepsy: 7 things to know

    Eventually, Michael's cries turned into silence. At 19 months old, he was diagnosed with a severe form of autism that caused him to lose his speech. 

    "My mom came over, and she kept calling his name, and he wasn't responding," Bolen said, remembering a moment when Michael was 17 months old. 

    "She just said 'Gosh, it's like he lives in his own little world.' And, you know, we had seen the hand flapping and the spinning for 20 minutes at a time, and the second she said that, I just went, 'Uh!' And I ran over to my computer, and I typed in the words 'own little world' and 'autism,' and, I mean, page after page after page, I was just reading my son's behaviors. ... I just sat there crying, saying, 'He has autism; he has autism,' and I made an emergency appointment with the pediatrician."

    Should all young children be screened for autism?

    As the few words that Michael had learned as a baby disappeared, he would command attention with his movements.

    "He was nonverbal; however, 98% of the time, he would communicate his point very well. When he wasn't happy, you knew about it. When he was happy, you knew about it," said Bolen, who lives in Pennsylvania with her husband and two other children.

    When Michael wasn't happy, he would turn self-injurious and aggressive, Bolen said, even headbutting her in the throat or banging his head so forcefully against the wall that it would dent or break.

    When he was happy, he would smile nonstop and often snuggle up with his father to watch movies and play games on an iPad.

    "He was so good with Michael," Bolen said of her husband, with a quiver in her voice.

    "Michael was an incredibly hyperactive child. He got into everything all the time. I used to joke he was like the Tasmanian Devil and Tigger all in one, because he didn't just bounce, he didn't just whiz, he did both at the same time nonstop," she said. "It was amazing to watch his mind work."

    "His dad was just absolutely his best friend," Leslie Bolen said of her son Michael.

    Few brains have been studied

    Since autism is a complex disorder that has been poorly understood, it has been difficult to treat -- and even diagnose -- without a larger number of brain donations to study. 

    Autism an increasing problem for children -- or is it? 

    In 2014, the Simons Foundation, Autism Speaks and the Autism Science Foundation launched a registration site for the Autism BrainNet network, called It Takes Brains, which serves as a sort of autism brain bank that collects postmortem donations.

    The donated brains are examined and analyzed in search of clues to the cellular and genetic causes of autism. The general consensus among scientists is that once researchers know what causes the disorder, they might get closer to finding improved therapies.

    "Before people started looking at the brains of patients with Alzheimer's disease, nobody knew what was causing the memory problems associated with that disease," said David Amaral, director of Autism BrainNet and a neuroanatomist at the University of California, Davis.

    "Similarly, the idea is that until we understand what is different about the brain of a person with autism, it will be difficult for us to try to figure out appropriate treatments," he said. "We need to determine the targets for treatment in autism."

    Autism Fast Facts

    In the history of Alzheimer's disease research, about 10,000 brain autopsies had been performed by 2005. Meanwhile, "in the entire history of autism research, the number of brains that have been looked at is less than a couple hundred total," Amaral said.

    Scientists have used brain tissue to identify dozens of genes that may play a role in causing autism and could help in the search for a better treatment, but there is much more waiting to be discovered.

    What scientists are searching for

    There is still no cure for autism. However, Amaral said he envisions that we soon may be able to individually treat the various issues associated with autism -- such as sleep disorders, anxiety, social interaction difficulties and gastrointestinal problems -- and eventually, such treatment could create a cocktail of a cure, so to speak. 

      "It's the cure that always get the attention. However, this sort of research can sometimes provide very meaningful therapies for patients, which greatly improve their lives. Additionally, identifying biomarkers or other clues associated with autism may give better insights into why it develops in the first place," said CNN Chief Medical Correspondent Dr. Sanjay Gupta, who is also a practicing neurosurgeon.

      Meanwhile, the hunt for a cure seems to have caused some controversy in the autism community. Some families are concerned that seeking a treatment might stunt the acceptance of autism among the public, Bolen said. 

      "I feel like it's very divided, cure versus acceptance," she said, adding that some families "wouldn't change their child for the world," even if they had an autism cure.

      "I wouldn't change Michael for the world, but my God, if I could take away the hurt. Imagine going your whole life not being able to say 'my tummy hurts,' 'I feel sick to my stomach,' 'I want to go there for dinner,' 'I love you,' " Bolen said. "If there was one thing that we could do to keep another family from experiencing not knowing their child or keeping their child from putting their head through a wall, then we felt like it was something that we needed to do."

      All in all, Bolen said, she remains hopeful.

      "I believe in God, and I believe that he has a plan for all of us," she said. "I don't understand why Michael had to suffer like he did all those years, and I don't understand why he was taken away from us. I can only pray for understanding and that, while my heart is forever broken, perhaps his contribution can lead to some answers."

      September 15, 2016, CNN

      9/9 - Latest in Autism News

      Drug target identified that may increase social interaction in autism

      A missing gene in the brain was linked to social avoidance in people with autism, and treating it may help improve the symptom of the disorder.

      Researchers at the University of Pennsylvania linked a missing gene in the brain to social avoidance among people with autism spectrum disorder, and in mice missing the gene were able to correct for the symptom using drug treatment. Photo by pathdoc/Shutterstock

      PHILADELPHIA, Sept. 9 (UPI) -- A gene in parts of the brain responsible for development and maintenance may represent a new drug target that could increase social interaction in people with autism, according to recent research.

      Researchers at the University of Pennsylvania found in experiments with mice that compensating for the absent gene in mice born without it using a drug treatment turned autism spectrum disorder patients' social avoidance into typical social behavior, according to a study published in the journal Biological Psychiatry.

      Behavioral symptoms in people with autism spectrum disorder are partially linked to lackluster connections between neurons, though researchers largely still do not understand actions, or lack thereof, in the brain causing the symptoms.

      Previous genetic studies have implicated the gene protocadherin 10, or PCDH10, which is a neural cell adhesion molecule involved in brain development and the proper function of synapses. In brain regions where the protein is typical expressed, including parts of the amygdala -- which is involved with emotion and motivation.

      For the study, the researchers first observed mice with the PCDH10 gene knocked out, which showed reduced social behavior similar to that seen in human ASD patients.

      The researchers also saw lower levels of glutamate receptor subunits, or NMDA recepted subunits, in the amygdala. When they treated these deficits with the drug d-cycloserine, which binds to the NMDA receptor, the social avoidance seen in mice without the PCDH10 gene disappeared and they became more normal in their social interactions.

      In addition to suggesting more study should be done on correcting deficits caused by the missing gene, the researchers say preliminary clinical studies with humans have shown results similar to those seen in the new study with mice -- suggesting more work should be done in the area.

      "This research could significantly change our understanding of the causes and brain changes in autism and could lead to new treatment approaches for the harder-to-treat social aspects of ASD," Dr. Edward Brodkin, an associate professor of psychiatry and director of the Adult Autism Spectrum Program at the University of Pennsylvania, said in a press release.

      Stephen Feller,  Sept. 9, 2016