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Mostrando entradas con la etiqueta Autism. Mostrar todas las entradas
Mostrando entradas con la etiqueta Autism. Mostrar todas las entradas

Social deficits associated with autism, schizophrenia induced in mice with new technology

ScienceDaily (July 27, 2011) — Researchers at Stanford University School of Medicine have been able to switch on, and then switch off, social-behavior deficits in mice that resemble those seen in people with autism and schizophrenia, thanks to a technology that allows scientists to precisely manipulate nerve activity in the brain. In synchrony with this experimentally induced socially aberrant behavior, the mice exhibited a brain-wave pattern called gamma oscillation that has been associated with autism and schizophrenia in humans, the researchers say.

The findings, to be published online in Nature on July 27, lend credence to a hypothesis that has been long floated but hard to test, until now. They mark the first demonstration, the researchers said, that elevating the brain's susceptibility to stimulation can produce social deficits resembling those of autism and schizophrenia, and that then restoring the balance eases those symptoms.

Autism spectrum disorder and schizophrenia each affect nearly 1 percent of all people. At present, there are no good drugs for mitigating the social-behavioral deficits of either disorder. While they differ in many ways, each syndrome is extremely complex, involving diverse deficits including social dysfunction. Mice are social animals, and there are many well-established tests of sociability in these animals.

Social behavior can't be ascribed to a single brain region, said Karl Deisseroth, MD, PhD, associate professor of psychiatry and behavioral sciences and of bioengineering and the study's senior author. "To form a coherent pattern of another individual, you need to quickly integrate all kinds of sensations. And that's just the tip of the iceberg," said Deisseroth, a practicing psychiatrist who routinely sees autistic-spectrum patients. "It's all changing, millisecond by millisecond, as both you and the other individual act and react. You have to constantly alter your own predictions about what's coming next. This kind of interaction is immensely more uncertain than, for example, predator/prey activity. It seems that it has to involve the whole brain, not just one or another part of it."

One intriguing hypothesis holds that social dysfunctions characteristic of autism and schizophrenia may stem from an altered balance in the propensity of excitatory versus inhibitory nerve cells in the brain to fire, resulting in an overall hyper-responsiveness to stimulation. Evidence for this hypothesis includes the higher seizure rate among patients with autism, and the fact that many autistic children's brains exhibit elevated levels of a high-frequency brain-wave pattern -- known as "gamma oscillation" -- that can be picked up by an electroencephalogram. Many schizophrenics also exhibit social deficits as well as higher levels of this anomalous brain-wave pattern, even at rest.

In addition, said Deisseroth, "autistic kids seem to be over-responding to environmental stimuli." For instance, they find eye contact overwhelming, or may cover their ears if there are too many people talking at once.

There has been no direct way to test the "excitation/inhibition-balance" hypothesis, Deisseroth said. It's been impossible to experimentally shift the balance between excitation and inhibition in the brain by selectively raising the firing propensities of one class of nerve cells but not the opposing class, because there have been no drugs or electrophysiological methods that act only on excitatory cells of the brain, or only on inhibitory cells.

But Deisseroth's team has a way of doing that, with a new technology, pioneered in his laboratory and called optogenetics: selectively bioengineering specific types of nerve cells so that they respond to light. These cells can be bioengineered to be either more or less likely -- depending on the researchers' intent -- to relay an impulse to the next nerve cell in a circuit. So with the flick of a switch, the scientists can activate a nerve circuit in the brain or inhibit it. Nerve cells can also be rendered responsive, in various ways, to different frequencies of light, allowing several circuits to be manipulated at once. (The optogenetic technique cannot be used in humans at this time as it requires still-experimental genetic modifications to brain cells.)

For the experiments in this study, the investigators targeted excitatory and inhibitory nerve cells in the medial prefrontal cortex, the most advanced part of the mouse brain, Deisseroth said. This region is very well-connected to everyplace else in the brain and is involved in processes such as planning, execution, personality and social behavior, he said.

"We didn't want to precisely direct the firing patterns of excitatory or inhibitory cells," Deisseroth said. "We wouldn't know where to start, because we don't know the neural codes of behavior. We just wanted to bias excitability."

Instead, the researchers bioengineered the nerve cells to respond to specific wavelength bands of light by becoming, for extended periods of time, either more or less likely to fire. "Nerve cells have an all-or-nothing tipping point," Deisseroth said. "Up to that point, they won't do much. But at a certain threshold, they fire."

The study's two first co-authors, postdoctoral researcher Ofer Yizhar, PhD, (now at Weizmann Institute of Science in Rehovot, Israel), and Lief Fenno, a graduate student in the medical school's MD/PhD program, devised ways of activating or inhibiting brain circuits by a light pulse for up to a half-hour, variously increasing or decreasing the firing propensity of nerve cells in those circuits. This time period was long enough to let the animals engage in various tests of social behavior.

The researchers subjected the mice they'd bioengineered to standard assays of rodent behavior, and compared the results to outcomes using normal mice.

The experimental mice exhibited no difference from the normal mice in tests of their anxiety levels, their tendency to move around or their curiosity about new objects. But, the team observed, the animals in whose medial prefrontal cortex excitability had been optogenetically stimulated lost virtually all interest in engaging with other mice to whom they were exposed. (The normal mice were much more curious about one another.)

"Boosting their excitatory nerve cells largely abolished their social behavior," Deisseroth said. In addition, these mice's brains showed the same gamma-oscillation pattern that is observed among many autistic and schizophrenic patients. "When you raise the firing likelihood of excitatory cells in the medial prefrontal cortex, you see an increased gamma oscillation right away, just as one would predict it would if this change in the excitatory/inhibitory balance were in fact relevant."

And when the scientists restored that balance by revving up inhibitory nerve-cell firing in the medial prefrontal cortex, they saw a moderate but significant recovery of social function.

"The behavioral results and the correspondence of gamma-oscillation changes to alterations in the animals' excitatory/inhibitory balance suggest that that what we're observing in animals could be relevant to people," said Deisseroth.

The study was performed in collaboration with experimental biophysics professor Peter Hegemann, PhD, and his colleagues at Humboldt University in Berlin, and John Huguenard, PhD, professor of neurology and neurological sciences at Stanford. Additional Stanford co-authors were bioengineering postdoctoral researchers Thomas Davidson, PhD, Vikaas Sohal, PhD and Inbal Goshen, PhD; neurology postdoctoral researcher Jeanne Paz, PhD; neuroscience graduate student Daniel O'Shea; bioengineering research associate Joel Finkelstein; and bioengineering laboratory manager Charu Ramakrishnan. Funding came from the Yu, Woo, Snyder and Keck foundations, and from the National Institute of Mental Health, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, the DARPA REPAIR program and the California Institute for Regenerative Medicine, as well as the CNC program at Stanford.

Story Source:

The above story is reprinted (with editorial adaptations by ScienceDaily staff) from materials provided by Stanford University Medical Center. The original article was written by Bruce Goldman.

Journal Reference:

Ofer Yizhar, Lief E. Fenno, Matthias Prigge, Franziska Schneider, Thomas J. Davidson, Daniel J. O’Shea, Vikaas S. Sohal, Inbal Goshen, Joel Finkelstein, Jeanne T. Paz, Katja Stehfest, Roman Fudim, Charu Ramakrishnan, John R. Huguenard, Peter Hegemann, Karl Deisseroth. Neocortical excitation/inhibition balance in information processing and social dysfunction. Nature, 2011; DOI: 10.1038/nature10360

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.



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Workings of brain protein suggest therapies for Fragile X Syndrome and autism

ScienceDaily (July 21, 2011) — Researchers now have a much clearer understanding of how mutations in a single gene can produce the complex cognitive deficits characteristic of Fragile X Syndrome, the most common inherited form of intellectual disability. As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions.

A report in the July 22nd issue of the journal Cell, published by Cell Press, defines a set of messenger RNA (mRNA) molecules that the Fragile-X mental retardation protein (FMRP) binds in the brains of mice. Many of these mRNAs encode proteins that function at neurons' connection points. When properly bound, FMRP prevents the translation of these mRNAs into proteins until the time is right.

"By understanding for the first time the direct targets of FMRP and its actions, we open up a whole world of potential avenues for therapies designed to make kids with Fragile X or autism better," said Robert Darnell, a Howard Hughes Medical Institute investigator at The Rockefeller University.

"The power comes from taking two diseases with similar symptoms and looking at what is in common," added Jennifer Darnell, also at The Rockefeller University. Of the almost 850 identified targets of FMRP, she explained, it is likely only a much smaller subset has a real impact on health or disease.

The Darnell team's breakthrough uses a technique they developed a few years ago based on a "biochemical trick." They use ultraviolet light to solidify the bonds between a protein, in this case FMRP, and the mRNAs it binds. Those protein-mRNA complexes could then be isolated and sequenced to reveal a "beautiful map" of the mRNA transcripts and precisely where they are bound to FMRP.

The experiments reveal that FMRP specifically binds to the protein-coding portions of those brain mRNAs. Jennifer Darnell said that distribution is unlike what they've seen before and looked much like the distribution of ribosomes, the cellular components that assemble proteins.

Further experiments suggest that FMRP acts as a "brake," reversibly stalling ribosomes after they bind mRNA. Robert Darnell likened FMRP to the nozzle at the end of a hose. It allows the mRNA transcripts to be loaded with ribosomes in the locations where they will be needed, and when the time is right, bursts of translation (protein synthesis) can occur. That sort of tight control is likely to be critical for the formation and plasticity of neural connections, the cellular foundation for learning and memory.

Their basic scientific discoveries suggest two different overall strategies for treating Fragile X Syndrome: by lowering the activity of particular proteins normally kept under wraps by FMRP or by replacing FMRP's ability to stall ribosomes. Notably, the Darnells say the latter is exactly what antibiotics do to slow the growth of bacteria.

"We may be able to take the edge off of the extra protein synthesis," Jennifer Darnell said.

Ultimately, there will be more to the story, Robert Darnell added. "FMRP is one of many regulatory proteins in the neuron. It doesn't work all by itself."

Story Source:

The above story is reprinted (with editorial adaptations by ScienceDaily staff) from materials provided by Cell Press, via EurekAlert!, a service of AAAS.

Journal Reference:

Jennifer C. Darnell, Sarah J. Van Driesche, Chaolin Zhang, Ka Ying Sharon Hung, Aldo Mele, Claire E. Fraser, Elizabeth F. Stone, Cynthia Chen, John J. Fak, Sung Wook Chi, Donny D. Licatalosi, Joel D. Richter, Robert B. Darnell. FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism. Cell, 2011; 146 (2): 247-261 DOI: 10.1016/j.cell.2011.06.013

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.



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Prenatal exposure to certain antidepressants may modestly increase risk of autism spectrum disorders, study suggests

ScienceDaily (July 5, 2011) — Prenatal exposure to selective serotonin reuptake inhibitors, especially during the first trimester, is associated with a modest increase the risk of developing an autism spectrum disorder, according to a report published Online First in the Archives of General Psychiatry, one of the JAMA/Archives journals.

"The prevalence of autism spectrum disorders (ASDs) has increased over recent years," the authors write as background information in the article. "Use of antidepressant medications during pregnancy also shows a secular increase in recent decades, prompting concerns that prenatal exposure may contribute to increased risk of ASD."

To evaluate if prenatal exposure to antidepressants, including selective serotonin reuptake inhibitors (SSRIs), is associated with an increase in ASD, Lisa A. Croen, Ph.D., of Kaiser Permanente Northern California, Oakland, and colleagues examined medical records for children drawn from the Childhood Autism Perinatal Study conducted by Kaiser Permanente Medical Care Program in Northern California. The authors included 298 children with ASD (case group) and their mothers, and 1,507 control children and their mothers in the study.

Twenty mothers of children in the case group (6.7 percent) and 50 mothers of children in the control group (3.3 percent) had at least one prescription for an antidepressant in the year prior to the birth of the study child. Of the 20 case mothers who were prescribed antidepressants, 13 (65 percent) were prescribed SSRIs only, two (10 percent) were prescribed an SSRI in combination with another antidepressant and five (25 percent) were prescribed one or more non-SSRI antidepressants only. Of the 50 control mothers who were prescribed an antidepressant, 25 (50 percent) were prescribed SSRIs only, nine (18 percent) were prescribed an SSRI in combination with another antidepressant and 16 (32 percent) were prescribed one or more non-SSRI antidepressants only.

After adjusting for maternal and birth factors, mothers of children with ASD were twice as likely to have at least one antidepressant prescription in the year prior to delivery. When compared with women with no antidepressant prescription during the study period, those with a prescription for a SSRI were more than twice as likely to have a child later diagnosed with ASD. This association was not seen for the small group of women who were prescribed a non-SSRI antidepressant only.

Additionally, after adjustment for a history of depression during the year prior to delivery, SSRI exposure during the first trimester remained significantly associated with risk of ASD, as was a history of SSRI exposure at any point during the year prior to delivery. Conversely, no association was seen between risk of ASD and the indication for treatment (mother having a history of depression or any mental health disorder) for the year prior to delivery.

"Although the number of children exposed prenatally to selective serotonin reuptake inhibitors in this population was low, results suggest that exposure, especially during the first trimester, may modestly increase the risk of ASD," the authors conclude. "We recommend that our findings be considered as preliminary and treated with caution, pending results from further studies designed to address the very complex question of whether prenatal exposure to SSRIs may be etiologically linked to later diagnoses of ASDs in offspring."

Story Source:

The above story is reprinted (with editorial adaptations by ScienceDaily staff) from materials provided by JAMA and Archives Journals.

Journal Reference:

Lisa A. Croen; Judith K. Grether; Cathleen K. Yoshida; Roxana Odouli; Victoria Hendrick. Antidepressant Use During Pregnancy and Childhood Autism Spectrum Disorders. Archives of General Psychiatry, 2011; DOI: 10.1001/archgenpsychiatry.2011.73

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.



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Frontiers: News - A Radical New Autism Theory - The Daily Beast

People with Asperger’s syndrome, a high functioning form of autism, are often stereotyped as distant loners or robotic geeks. But what if what looks like coldness to the outside world is in fact a response to being overwhelmed by emotion—an excess of empathy, not a lack of it?
People with Asperger’s syndrome, a high functioning form of autism, are often stereotyped as distant loners or robotic geeks. But what if what looks like coldness to the outside world is in fact a response to being overwhelmed by emotion—an excess of empathy, not a lack of it? This idea resonates with many people suffering from autism-spectrum disorders and their families. It also jibes with new thinking about the nature of autism called the “intense world” theory. As posited by Henry and Kamila Markram of the Swiss Federal Institute of Technology in Lausanne, suggests that the fundamental problem in autism-spectrum disorders is not a social deficiency, but rather an hypersensitivity to experience, which includes an overwhelming fear response. “I can walk into a room and feel what everyone is feeling. The problem is that it all comes in faster than I can process it.” “There are those who say autistic people don’t feel enough,” says Kamila Markram. “We’re saying exactly the opposite: They feel too much.” Virtually all people with ASD report various types of oversensitivity and intense fear. The Markrams argue that social difficulties of those with ASDs stem from trying to cope with a world where someone has turned the volume on all the senses and feelings up past 10. If hearing your parents’ voices while sitting in your crib felt like listening to Lou Reed’s Metal Machine Music on acid, you, too, might prefer to curl in a corner and rock. But of course, this sort of withdrawal and self-soothing behavior—repetitive movements, echoing words or actions and failing to make eye contact—interferes with normal social development. Without the experience other kids get through ordinary social interactions, children on the spectrum never learn to understand subtle signals. Phil Schwarz, a software developer from Massachusetts, is vice president of the Asperger’s Associaton of New England and has a child with the condition. “I think that it’s a stereotype or a misconception that folks on spectrum lack empathy,” he says. Schwarz notes that autism is not a unitary condition—“if you’ve seen one Aspie, you’ve seen one Aspie,” he says, using the colloquial term. But he adds, “I think most people with ASD feel emotional empathy and care about the welfare of others very deeply.” So why do so many people see a lack of empathy as a defining characteristic of ASD? The problem starts with the complexity of empathy itself, which has at least two critical parts: The first is simply the ability to see the world from the perspective of another. The second is more emotional—the ability to imagine what the other is feeling and care about their pain as a result. The fact that autistic children tend to develop the first part of empathy—which is called “theory of mind”—later than other kids was established in a classic experiment. Children are asked to watch two puppets, Sally and Anne. Sally takes a marble and places it in a basket, then leaves the stage. While she’s gone, Anne takes the marble out and puts it in a box. The children are then asked: Where will Sally look first for her marble when she returns? Normal four year olds know that Sally didn’t see Anne move the marble, so they get it right. By 10 or 11, mentally retarded children with a verbal IQ equivalent to three-year-olds also guess correctly. But 80 percent of 10-11 year-old autistic children guess that Sally will look in the box, because they know that that’s where the marble is and they don’t realize that other people don’t share all of their knowledge.

Frontiers: News - A Radical New Autism Theory - The Daily Beast

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