Researchers have found a drug that can help patients with Fragile X syndrome, the most common cause of inherited intellectual impairment (formerly known as mental retardation), stay calm in social situations by treating their anxiety.

Dr. Elizabeth Berry-Kravis and her team found that a drug called Arbaclofen reduced social avoidance and repetitive behavior in Fragile X patients, especially those with autism, by treating their anxiety. The drug increases GABA, a chemical in the brain that regulates the excitatory system in Fragile X patients, who have been known to have too little GABA to do the job otherwise, causing their excitatory systems to "signal out of control" and make them anxious.

Such patients have been known to cover their ears or run away at their own birthdays because they are overwhelmed by the attention, but one trial participant said he was able to enjoy his birthday party for the first time in his life while he was on Arbaclofen, she said.

"I feel like it's kind of the beginning of chemotherapy when people first realized you could use chemotherapy to treat cancer patients instead of just letting them die," said Berry-Kravis, a professor of neurology and biochemistry at Rush University Medical Center in Chicago who has studied Fragile X for more than 20 years.

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She said people used to think Fragile X patients couldn't be helped either, but she and her team have proven that by using knowledge from existing brain mechanism studies, doctors can select medications to target specific problems in Fragile X patients' brains.

Fragile X syndrome is a change in the FMRI gene, which makes a protein necessary for brain growth, and studies indicate it causes autism in up to one-third of patients diagnosed with it. Unlike Fragile X syndrome, which is genetic, autism is a behavioral diagnosis characterized by an inability to relate to other people or read social cues. Autism and Fragile X are linked, but not mutually exclusive. A core symptom of both is social withdrawal.

Sixty-three patients with Fragile X participated in Berry-Kravis's placebo-controlled, double-blind clinical trial from December 2008 through March 2010. Of those, the patients with autism showed the biggest improvements in social behavior, Berry-Kravis said.

To psychologist Lori Warner, who directs the HOPE Center at Beaumont Children's Hospital, the study is exciting because when her autistic patients are anxious, they often have a harder time learning the social cues they can't read on their own.

"Reducing anxiety opens up your brain to be able to take in what's happening in an environment and be able to learn from and understand social cues because you're no longer frightened of the situation," Warner said.

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New Drug Could Help Autism Patients

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Public release date: 18-Sep-2012 [ | E-mail | Share ]

Contact: Mark Wheeler mwheeler@mednet.ucla.edu 310-794-2265 University of California - Los Angeles

The National Institutes of Health, recognizing UCLA's preeminence in both research and clinical care for children with autism, has announced multiple awards to the university as part of the agency's Autism Centers of Excellence (ACE) research program.

The UCLA Center for Autism Research and Treatment (CART) was the only NIH ACE Center in the nation to be awarded renewed funding for the next five years. The funding will support ongoing research focused on examining genes' link to behavior, developing clinical interventions for those severely affected by the disorder, and explaining why autism affects more boys than girls.

The goal of this work is to understand the full range of autism spectrum disorders, the brain condition that causes a continuum of social deficits, communication difficulties and cognitive delays.

Genes and behavior

UCLA's CART will receive $10 million for research aimed at advancing treatments, understanding the disorder's genetics and biology, and improving diagnostics. New research will link genetic mutations to distinct patterns of brain development, structure and function in children and adolescents with autism spectrum disorders. This research effort is led by Susan Bookheimer, the Joaquin Fuster Professor of Cognitive Neurosciences at the Semel Institute for Neuroscience and Human Behavior at UCLA.

CART is unique in its breadth of expertise, which spans treatment, research, genetics, brain imaging and early-detection methods.

"We are very pleased to receive this additional funding to continue our investigation into the relationship between aberrant brain development and core deficits in autism," Bookheimer said. "With this award, we will now begin to track children, from infants to adolescents, who have multiple risks for autism and follow them over time in order to understand the trajectory of this disorder."

Autism in boys and girls

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Faculty from UCLA Center for Autism Research and Treatment receive multiple NIH awards

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Public release date: 19-Sep-2012 [ | E-mail | Share ]

Contact: Elisabeth (Lisa) Lyons elyons@cell.com 617-386-2121 Cell Press

Diverse symptoms associated with autism could be explained by unreliable activity of neurons in the brain in response to basic, nonsocial sensory information, according to a study published by Cell Press on September 19th in the journal Neuron. The new findings suggest that autism is a disorder of general neural processing and could potentially provide an explanation for the origins of a range of psychiatric and neurological disorders.

"Within the autism research community, most researchers are looking for either a dysfunctional brain region or inadequate connections between brain regions," says lead study author Ilan Dinstein of Carnegie Mellon University. "We're taking a different approach and thinking about how a general characteristic of the brain could be different in autismand how that might lead to behavioral changes."

Autism is a developmental disorder marked by social deficits, communication problems, and repetitive behaviors. Two previous studies suggested that the neural responses of individuals with autism are more variable than those of control subjects during visual and motor tasks. Building on this past evidence, Dinstein and his collaborators have now shown that multiple sensory systems within these individuals show noisy responses, suggesting that widespread behavioral abnormalities could arise from a basic dysfunction in neural processing that emerges during development.

In the study, adults with autism participated in functional magnetic resonance imaging experiments in which their brain activity was measured under three different conditions: while they watched moving dots on a screen, listened to tone beeps, and felt air puffs on their hands. The neural responses to all three types of sensory information were less reliable across trials in individuals with autism than in control subjects.

The findings suggest that autism could result from fundamental defects in general neural processing rather than a collection of independent problems that affect different brain regions. "Unreliable neural activity is a general property that could have a profound impact on the function of many brain systems and could underlie a range of cognitive and social abnormalities," says study author Marlene Behrmann of Carnegie Mellon University. "So we think that this problem could play a role not only in autism, but also potentially in other disorders such as epilepsy and schizophrenia."

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Dinstein et al.: "Unreliable evoked responses in autism."

Video: Marlene Behrmann, Professor of Psychology, and IIan Dinstein, Postdoctoral Researcher, from Carnegie Mellon University's Department of Psychology discuss their study "Autistic Adults have Unreliable Neural Sensory Responses" publishing in Neuron.

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Autism symptoms could arise from unreliable neural responses

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An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to the authors of a new study.

Fragile X is a rare genetic disorder that affects about 1 in 4,000 boys and 1 in 8,000 girls, according to the National Institutes of Health. It usually results in mental retardation and in about half of cases some form of autism.

In fragile X, which accounts for 2% of autism cases, a mutation in a gene on the X chromosome turns off production of a regulatory protein known as FMRP. That leads to out-of-control activation of the brain chemical glutamate, which plays a key role in learning and memory, potentially explaining social anxiety and other symptoms of the disorder.

A group of researchers tested a drug known as STX209 in mice that were genetically engineered to have an animal version of fragile X. The researchers found that it helped correct the biochemical abnormalities associated with the mutation and reduced seizures and repetitive behaviors in the mice, they reported Wednesday in the journal Science Translational Medicine.

In a related study published in the same journal, 46 children and 17 adults with fragile X were assigned to take the drug for four weeks and a placebo for four weeks. Patients made bigger improvements on a "social avoidance" scale while they were taking the drug compared with when they were taking the placebo.

"This study nails a core feature in autism," said Dr. Randi Hagerman, an expert in neurodevelopmental disorders at the UC Davis MIND Institute and coauthor of the human study. "We think this is a great drug."

But scientists who were not involved in the study said the improvements were modest at best and that their applicability to autism a highly variable disorder that may have many distinct causes was unclear.

"The data have to be viewed with extreme caution," said Dr. Christopher McDougle, a psychiatrist and autism expert at Harvard University. "They're interesting. That's about all you can say."

An explosion in autism diagnosis over the last two decades makes the disorder an obvious target for drug developers. But with little understanding of its biological underpinnings, researchers have not known which chemical pathways to focus on.

Two drugs, both antipsychotic medications designed for schizophrenia, are currently approved to treat autism. But they target irritability and not its hallmark symptoms of social dysfunction, communication problems and repetitive behaviors.

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Experimental drug may help some autism cases, researchers say

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