Neuroscience

Articles and news from the latest research reports.

Posts tagged autism

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Shedding new light on learning disorders
A Michigan State University researcher has discovered the first anatomical evidence that the brains of children with a nonverbal learning disability – long considered a “pseudo” diagnosis – may develop differently than the brains of other children.
The finding, published in Child Neuropsychology, could ultimately help educators and clinicians better distinguish between – and treat – children with a nonverbal learning disability, or NLVD, and those with Asperger’s, or high functioning autism, which is often confused with NLVD.
“Children with nonverbal learning disabilities and Asperger’s can look very similar, but they can have very different reasons for why they behave the way they do,” said Jodene Fine, assistant professor of school psychology in MSU’s College of Education.
Understanding the biological differences in children with learning and behavioral challenges could help lead to more appropriate intervention strategies.
Children with nonverbal learning disability tend to have normal language skills but below average math skills and difficulty solving visual puzzles. Because many of these kids also show difficulty understanding social cues, some experts have argued that NVLD is related to high functioning autism – which this latest study suggests may not be so.
Fine and Kayla Musielak, an MSU doctoral student in school psychology, studied about 150 children ages 8 to 18. Using MRI scans of the participants’ brains, the researchers found that the children diagnosed with NVLD had smaller spleniums than children with other learning disorders such as Asperger’s and ADHD, and children who had no learning disorders.
The splenium is part of the corpus callosum, a thick band of fibers in the brain that connects the left and right hemispheres and facilitates communication between the two sides. Interestingly, this posterior part of the corpus callosum serves the areas of the brain related to visual and spatial functioning.
In a second part of the study, the participants’ brain activity was analyzed after they were shown videos in an MRI that portrayed both positive and negative examples of social interaction. (A typical example of a positive event was a child opening a desired birthday present with friend; a negative event included a child being teased by other children.)
The researchers found that the brains of children with nonverbal learning disability responded differently to the social interactions than the brains of children with high functioning autism, or HFA, suggesting the neural pathways that underlie those behaviors may be different.
“So what we have is evidence of a structural difference in the brains of children with NLVD and HFA, as well as evidence of a functional difference in the way their brains behave when they are presented with stimuli,” Fine said.
While more research is needed to better understand how nonverbal learning disability fits into the family of learning disorders, Fine said her findings present “an interesting piece of the puzzle.”
“I would say at this point we still don’t have enough evidence to say NVLD is a distinct diagnosis, but I do think our research supports the idea that it might be,” she said.

Shedding new light on learning disorders

A Michigan State University researcher has discovered the first anatomical evidence that the brains of children with a nonverbal learning disability – long considered a “pseudo” diagnosis – may develop differently than the brains of other children.

The finding, published in Child Neuropsychology, could ultimately help educators and clinicians better distinguish between – and treat – children with a nonverbal learning disability, or NLVD, and those with Asperger’s, or high functioning autism, which is often confused with NLVD.

“Children with nonverbal learning disabilities and Asperger’s can look very similar, but they can have very different reasons for why they behave the way they do,” said Jodene Fine, assistant professor of school psychology in MSU’s College of Education.

Understanding the biological differences in children with learning and behavioral challenges could help lead to more appropriate intervention strategies.

Children with nonverbal learning disability tend to have normal language skills but below average math skills and difficulty solving visual puzzles. Because many of these kids also show difficulty understanding social cues, some experts have argued that NVLD is related to high functioning autism – which this latest study suggests may not be so.

Fine and Kayla Musielak, an MSU doctoral student in school psychology, studied about 150 children ages 8 to 18. Using MRI scans of the participants’ brains, the researchers found that the children diagnosed with NVLD had smaller spleniums than children with other learning disorders such as Asperger’s and ADHD, and children who had no learning disorders.

The splenium is part of the corpus callosum, a thick band of fibers in the brain that connects the left and right hemispheres and facilitates communication between the two sides. Interestingly, this posterior part of the corpus callosum serves the areas of the brain related to visual and spatial functioning.

In a second part of the study, the participants’ brain activity was analyzed after they were shown videos in an MRI that portrayed both positive and negative examples of social interaction. (A typical example of a positive event was a child opening a desired birthday present with friend; a negative event included a child being teased by other children.)

The researchers found that the brains of children with nonverbal learning disability responded differently to the social interactions than the brains of children with high functioning autism, or HFA, suggesting the neural pathways that underlie those behaviors may be different.

“So what we have is evidence of a structural difference in the brains of children with NLVD and HFA, as well as evidence of a functional difference in the way their brains behave when they are presented with stimuli,” Fine said.

While more research is needed to better understand how nonverbal learning disability fits into the family of learning disorders, Fine said her findings present “an interesting piece of the puzzle.”

“I would say at this point we still don’t have enough evidence to say NVLD is a distinct diagnosis, but I do think our research supports the idea that it might be,” she said.

Filed under ADHD nonverbal learning disability corpus callosum brain structure autism brain activity psychology neuroscience science

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Synaesthesia is more common in autism

People with autism are more likely to also have synaesthesia, suggests new research in the journal Molecular Autism.

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Synaesthesia involves people experiencing a ‘mixing of the senses’, for example, seeing colours when they hear sounds, or reporting that musical notes evoke different tastes. Autism is diagnosed when a person struggles with social relationships and communication, and shows unusually narrow interests and resistance to change. The team of scientists from Cambridge University found that whereas synaesthesia only occurred in 7.2% of typical individuals, it occurred in 18.9% of people with autism.

On the face of it, this is an unlikely result, as autism and synaesthesia seem as if they should not share anything. But at the level of the brain, synaesthesia involves atypical connections between brain areas that are not usually wired together (so that a sensation in one channel automatically triggers a perception in another). Autism has also been postulated to involve over-connectivity of neurons (so that the person over-focuses on small details but struggles to keep track of the big picture).

The scientists tested – and confirmed – the prediction that if both autism and synaesthesia involve neural over-connectivity, then synaesthesia might be disproportionately common in autism.

The team, led by Professor Simon Baron-Cohen at the Autism Research Centre at Cambridge University, tested 164 adults with an autism spectrum condition and 97 adults without autism. All volunteers were screened for synaesthesia. Among the 31 people with autism who also had synaesthesia, the most common forms of the latter were ‘grapheme-colour’ (18 of them reported black and white letters being seen as coloured) and ‘sound-colour’ (21 of them reported a sound triggering a visual experience of colour). Another 18 of them reported either tastes, pains, or smells triggering a visual experience of colour.

Professor Baron-Cohen said: “I have studied both autism and synaesthesia for over 25 years and I had assumed that one had nothing to do with the other. These findings will re-focus research to examine common factors that drive brain development in these traditionally very separate conditions. An example is the mechanism ‘apoptosis,’ the natural pruning that occurs in early development, where we are programmed to lose many of our infant neural connections. In both autism and synaesthesia apoptosis may not occur at the same rate, so that these connections are retained beyond infancy.”

Professor Simon Fisher, a member of the team, and Director of the Language and Genetics Department at Nijmegen’s Max Planck Institute, added: “Genes play a substantial role in autism and scientists have begun to pinpoint some of the individual genes involved. Synaesthesia is also thought to be strongly genetic, but the specific genes underlying this are still unknown. This new research gives us an exciting new lead, encouraging us to search for genes which are shared between these two conditions, and which might play a role in how the brain forms or loses neural connections.”

Donielle Johnson, who carried out the study as part of her Master’s degree in Cambridge, said: “People with autism report high levels of sensory hyper-sensitivity. This new study goes one step further in identifying synaesthesia as a sensory issue that has been overlooked in this population. This has major implications for educators and clinicians designing autism-friendly learning environments.”

(Source: eurekalert.org)

Filed under synaesthesia grapheme-color synesthesia autism brain structure neuroscience science

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iPads help late-speaking children with autism develop language
The iPad you use to check email, watch episodes of Mad Men and play Words with Friends may hold the key to enabling children with autism spectrum disorders to express themselves through speech. New research indicates that children with autism who are minimally verbal can learn to speak later than previously thought, and iPads are playing an increasing role in making that happen, according to Ann Kaiser, a researcher at Vanderbilt Peabody College of education and human development.
In a study funded by Autism Speaks, Kaiser found that using speech-generating devices to encourage children ages 5 to 8 to develop speaking skills resulted in the subjects developing considerably more spoken words compared to other interventions. All of the children in the study learned new spoken words and several learned to produce short sentences as they moved through the training.
“For some parents, it was the first time they’d been able to converse with their children,” said Kaiser, Susan W. Gray Professor of Education and Human Development. “With the onset of iPads, that kind of communication may become possible for greater numbers of children with autism and their families.”
Augmentative and alternative communication devices—which employ symbols, gestures, pictures and speech output—have been used for decades by people who have difficulty speaking. Now, with the availability of apps that emulate those devices, the iPad offers a more accessible, cheaper and more user-friendly way to help minimally verbal children with autism to communicate. And, the iPad is far less stigmatizing for young people with autism who rely on them for communicating with fellow students, teachers and friends.
The reason speech-generating devices like the iPad are effective in promoting language development is simple. “When we say a word it sounds a little different every time, and words blend together and take on slightly different acoustic characteristics in different contexts,” Kaiser explained. “Every time the iPad says a word, it sounds exactly the same, which is important for children with autism, who generally need things to be as consistent as possible.”
As many as a third of children with autism have mastery of only a few words by the time they are school age. Previously, researchers thought that if children with autism had not begun to speak by age 5 or 6, they were unlikely to acquire spoken language. But Kaiser is encouraged by study results and believes that her iPad studies may help change that notion.
Building on findings from this research, Kaiser has begun a new five-year long study supported by the National Institutes of Health’s Autism Centers of Excellence with colleagues at UCLA, University of Rochester, and Cornell Weill Medical School. She and a team of researchers and therapists at the four sites are using iPads in two contrasting interventions (direct-teaching and naturalistic-teaching) to evaluate the effectiveness of the two communication interventions for children who have autism and use minimal spoken language.
In the direct-teaching approach, children are taught prerequisite skills for communication (such as matching objects, motor imitation and verbal imitation) and basic communication skills (such as requesting objects) in a massed trial format. For example, an adult partner may present five to 10 consecutive opportunities for a child to use the iPad to request preferred objects. During these opportunities, the child is prompted to use the iPad to request and may receive physical assistance if he cannot use the iPad independently.
In the naturalistic-teaching approach, the adult models the use of the iPad during play and conversation. She also teaches turn-taking, use of gestures to communicate, play with objects and social attention to partners during the play. She provides a limited number of prompts to use the iPad to make choices, to comment or make new requests.
In both approaches, children touch the symbols on the screen, listen to the device repeat the words, and sometimes say the words themselves. They are encouraged to use both words and the iPad to communicate, and the adult therapist uses both modes of communication throughout the instructional sessions.
Results from the Autism Speaks study will be available in Spring 2014; the NIH study will continue through Spring 2017; and more information can be found at Kidtalk.org.

iPads help late-speaking children with autism develop language

The iPad you use to check email, watch episodes of Mad Men and play Words with Friends may hold the key to enabling children with autism spectrum disorders to express themselves through speech. New research indicates that children with autism who are minimally verbal can learn to speak later than previously thought, and iPads are playing an increasing role in making that happen, according to Ann Kaiser, a researcher at Vanderbilt Peabody College of education and human development.

In a study funded by Autism Speaks, Kaiser found that using speech-generating devices to encourage children ages 5 to 8 to develop speaking skills resulted in the subjects developing considerably more spoken words compared to other interventions. All of the children in the study learned new spoken words and several learned to produce short sentences as they moved through the training.

For some parents, it was the first time they’d been able to converse with their children,” said Kaiser, Susan W. Gray Professor of Education and Human Development. “With the onset of iPads, that kind of communication may become possible for greater numbers of children with autism and their families.”

Augmentative and alternative communication devices—which employ symbols, gestures, pictures and speech output—have been used for decades by people who have difficulty speaking. Now, with the availability of apps that emulate those devices, the iPad offers a more accessible, cheaper and more user-friendly way to help minimally verbal children with autism to communicate. And, the iPad is far less stigmatizing for young people with autism who rely on them for communicating with fellow students, teachers and friends.

The reason speech-generating devices like the iPad are effective in promoting language development is simple. “When we say a word it sounds a little different every time, and words blend together and take on slightly different acoustic characteristics in different contexts,” Kaiser explained. “Every time the iPad says a word, it sounds exactly the same, which is important for children with autism, who generally need things to be as consistent as possible.”

As many as a third of children with autism have mastery of only a few words by the time they are school age. Previously, researchers thought that if children with autism had not begun to speak by age 5 or 6, they were unlikely to acquire spoken language. But Kaiser is encouraged by study results and believes that her iPad studies may help change that notion.

Building on findings from this research, Kaiser has begun a new five-year long study supported by the National Institutes of Health’s Autism Centers of Excellence with colleagues at UCLA, University of Rochester, and Cornell Weill Medical School. She and a team of researchers and therapists at the four sites are using iPads in two contrasting interventions (direct-teaching and naturalistic-teaching) to evaluate the effectiveness of the two communication interventions for children who have autism and use minimal spoken language.

In the direct-teaching approach, children are taught prerequisite skills for communication (such as matching objects, motor imitation and verbal imitation) and basic communication skills (such as requesting objects) in a massed trial format. For example, an adult partner may present five to 10 consecutive opportunities for a child to use the iPad to request preferred objects. During these opportunities, the child is prompted to use the iPad to request and may receive physical assistance if he cannot use the iPad independently.

In the naturalistic-teaching approach, the adult models the use of the iPad during play and conversation. She also teaches turn-taking, use of gestures to communicate, play with objects and social attention to partners during the play. She provides a limited number of prompts to use the iPad to make choices, to comment or make new requests.

In both approaches, children touch the symbols on the screen, listen to the device repeat the words, and sometimes say the words themselves. They are encouraged to use both words and the iPad to communicate, and the adult therapist uses both modes of communication throughout the instructional sessions.

Results from the Autism Speaks study will be available in Spring 2014; the NIH study will continue through Spring 2017; and more information can be found at Kidtalk.org.

Filed under autism ASD language language development communication psychology neuroscience science

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Social symptoms in autistic children may be caused by hyper-connected neurons

The brains of children with autism show more connections than the brains of typically developing children do. What’s more, the brains of individuals with the most severe social symptoms are also the most hyper-connected. The findings reported in two independent studies published in the Cell Press journal Cell Reports (1, 2) on November 7th are challenge the prevailing notion in the field that autistic brains are lacking in neural connections.

The findings could lead to new treatment strategies and new ways to detect autism early, the researchers say. Autism spectrum disorder is a neurodevelopmental condition affecting nearly 1 in 88 children.

"Our study addresses one of the hottest open questions in autism research," said Kaustubh Supekar of Stanford University School of Medicine of his and his colleague Vinod Menon’s study aimed at characterizing whole-brain connectivity in children. "Using one of the largest and most heterogeneous pediatric functional neuroimaging datasets to date, we demonstrate that the brains of children with autism are hyper-connected in ways that are related to the severity of social impairment exhibited by these children."

In the second Cell Reports study, Ralph-Axel Müller and colleagues at San Diego State University focused specifically on neighboring brain regions to find an atypical increase in connections in adolescents with a diagnosis of autism spectrum disorder. That over-connection, which his team observed particularly in the regions of the brain that control vision, was also linked to symptom severity.

"Our findings support the special status of the visual system in children with heavier symptom load," Müller said, noting that all of the participants in his study were considered "high-functioning" with IQs above 70. He says measures of local connectivity in the cortex might be used as an aid to diagnosis, which today is based purely on behavioral criteria.

For Supekar and Menon, these new views of the autistic brain raise the intriguing possibility that epilepsy drugs might be used to treat autism.

"Our findings suggest that the imbalance of excitation and inhibition in the local brain circuits could engender cognitive and behavioral deficits observed in autism," Menon said. That imbalance is a hallmark of epilepsy as well, which might explain why children with autism so often suffer with epilepsy too.

"Drawing from these observations, it might not be too far fetched to speculate that the existing drugs used to treat epilepsy may be potentially useful in treating autism," Supekar said.

(Source: eurekalert.org)

Filed under autism ASD neurons neuroimaging brain circuits neuroscience science

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New study identifies signs of autism in the first months of life
Researchers at Marcus Autism Center, Children’s Healthcare of Atlanta and Emory University School of Medicine have identified signs of autism present in the first months of life. The researchers followed babies from birth until 3 years of age, using eye-tracking technology, to measure the way infants look at and respond to social cues. Infants later diagnosed with autism showed declining attention to the eyes of other people, from the age of 2 months onwards. The results are reported in the Nov. 6, 2013 advanced online publication of the journal Nature.
The study followed two groups of infants, one at low and one at high risk for having autism spectrum disorders. High-risk infants had an older sibling already diagnosed with autism, increasing the infant’s risk of also having the condition by 20 fold. In contrast, low-risk infants had no first, second, or third degree relatives with autism.
"By following these babies from birth, and intensively within the first six months, we were able to collect large amounts of data long before overt symptoms are typically seen," said Warren Jones, Ph.D., the lead author on the study. Teams of clinicians assessed the children longitudinally and confirmed their diagnostic outcomes at age 3. Then the researchers analyzed data from the infants’ first months to identify what factors separated those who received an autism diagnosis from those who did not. What they found was surprising.
"We found a steady decline in attention to other people’s eyes, from 2 until 24 months, in infants later diagnosed with autism," said co-investigator Ami Klin, Ph.D., director of Marcus Autism Center. Differences were apparent even within the first 6 months, which has profound implications. "First, these results reveal that there are measurable and identifiable differences present already before 6 months. And second, we observed declining eye fixation over time, rather than an outright absence. Both these factors have the potential to dramatically shift the possibilities for future strategies of early intervention."
Jones is director of research at Marcus Autism Center and assistant professor in the Department of Pediatrics at Emory University School of Medicine. Klin is director of Marcus Autism Center, chief of the Division of Autism & Related Disorders in the Department of Pediatrics at Emory University School of Medicine and a Georgia Research Alliance Eminent Scholar.
The researchers caution that what they observed would not be visible to the naked eye, but requires specialized technology and repeated measurements of a child’s development over the course of months.
"To be sure, parents should not expect that this is something they could see without the aid of technology," said Jones, "and they shouldn’t be concerned if an infant doesn’t happen to look at their eyes at every moment. We used very specialized technology to measure developmental differences, accruing over time, in the way that infants watched very specific scenes of social interaction."
Before they can crawl or walk, babies explore the world intensively by looking at it, and they look at faces, bodies, and objects, as well as other people’s eyes. This exploration is a natural and necessary part of infant development, and it sets the stage for brain growth.
The critical implications of the study relate to what it reveals about the early development of social disability. Although the results indicate that attention to others’ eyes is already declining by 2 to 6 months in infants later diagnosed with autism, attention to others’ eyes does not appear to be entirely absent. If infants were identified at this early age, interventions could more successfully build on the levels of eye contact that are present. Eye contact plays a key role in social interaction and development, and in the study, those infants whose levels of eye contact diminished most rapidly were also those who were most disabled later in life. This early developmental difference also gives researchers a key insight for future studies.
"The genetics of autism have proven to be quite complex. Many hundreds of genes are likely to be involved, with each one playing a role in just a small fraction of cases, and contributing to risk in different ways in different individuals," said Jones. "The current results reveal one way in which that genetic diversity may be converted into disability very early in life. Our next step will be to expand these studies with more children, and to combine our eye-tracking measures with measures of gene expression and brain growth."

New study identifies signs of autism in the first months of life

Researchers at Marcus Autism Center, Children’s Healthcare of Atlanta and Emory University School of Medicine have identified signs of autism present in the first months of life. The researchers followed babies from birth until 3 years of age, using eye-tracking technology, to measure the way infants look at and respond to social cues. Infants later diagnosed with autism showed declining attention to the eyes of other people, from the age of 2 months onwards. The results are reported in the Nov. 6, 2013 advanced online publication of the journal Nature.

The study followed two groups of infants, one at low and one at high risk for having autism spectrum disorders. High-risk infants had an older sibling already diagnosed with autism, increasing the infant’s risk of also having the condition by 20 fold. In contrast, low-risk infants had no first, second, or third degree relatives with autism.

"By following these babies from birth, and intensively within the first six months, we were able to collect large amounts of data long before overt symptoms are typically seen," said Warren Jones, Ph.D., the lead author on the study. Teams of clinicians assessed the children longitudinally and confirmed their diagnostic outcomes at age 3. Then the researchers analyzed data from the infants’ first months to identify what factors separated those who received an autism diagnosis from those who did not. What they found was surprising.

"We found a steady decline in attention to other people’s eyes, from 2 until 24 months, in infants later diagnosed with autism," said co-investigator Ami Klin, Ph.D., director of Marcus Autism Center. Differences were apparent even within the first 6 months, which has profound implications. "First, these results reveal that there are measurable and identifiable differences present already before 6 months. And second, we observed declining eye fixation over time, rather than an outright absence. Both these factors have the potential to dramatically shift the possibilities for future strategies of early intervention."

Jones is director of research at Marcus Autism Center and assistant professor in the Department of Pediatrics at Emory University School of Medicine. Klin is director of Marcus Autism Center, chief of the Division of Autism & Related Disorders in the Department of Pediatrics at Emory University School of Medicine and a Georgia Research Alliance Eminent Scholar.

The researchers caution that what they observed would not be visible to the naked eye, but requires specialized technology and repeated measurements of a child’s development over the course of months.

"To be sure, parents should not expect that this is something they could see without the aid of technology," said Jones, "and they shouldn’t be concerned if an infant doesn’t happen to look at their eyes at every moment. We used very specialized technology to measure developmental differences, accruing over time, in the way that infants watched very specific scenes of social interaction."

Before they can crawl or walk, babies explore the world intensively by looking at it, and they look at faces, bodies, and objects, as well as other people’s eyes. This exploration is a natural and necessary part of infant development, and it sets the stage for brain growth.

The critical implications of the study relate to what it reveals about the early development of social disability. Although the results indicate that attention to others’ eyes is already declining by 2 to 6 months in infants later diagnosed with autism, attention to others’ eyes does not appear to be entirely absent. If infants were identified at this early age, interventions could more successfully build on the levels of eye contact that are present. Eye contact plays a key role in social interaction and development, and in the study, those infants whose levels of eye contact diminished most rapidly were also those who were most disabled later in life. This early developmental difference also gives researchers a key insight for future studies.

"The genetics of autism have proven to be quite complex. Many hundreds of genes are likely to be involved, with each one playing a role in just a small fraction of cases, and contributing to risk in different ways in different individuals," said Jones. "The current results reveal one way in which that genetic diversity may be converted into disability very early in life. Our next step will be to expand these studies with more children, and to combine our eye-tracking measures with measures of gene expression and brain growth."

Filed under ASD autism eye contact neurodevelopmental disorders neuroscience science

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Gene Found To Foster Synapse Formation In The Brain

Researchers at Johns Hopkins say they have found that a gene already implicated in human speech disorders and epilepsy is also needed for vocalizations and synapse formation in mice. The finding, they say, adds to scientific understanding of how language develops, as well as the way synapses — the connections among brain cells that enable us to think — are formed. A description of their experiments appears in Science Express on Oct. 31.

image

A group led by Richard Huganir, Ph.D., director of the Solomon H. Snyder Department of Neuroscience and a Howard Hughes Medical Institute investigator, set out to investigate genes involved in synapse formation. Gek-Ming Sia, Ph.D., a research associate in Huganir’s laboratory, first screened hundreds of human genes for their effects on lab-grown mouse brain cells. When one gene, SRPX2, was turned up higher than normal, it caused the brain cells to erupt with new synapses, Sia found.

When Huganir’s team injected fetal mice with an SRPX2-blocking compound, the mice showed fewer synapses than normal mice even as adults, the researchers found. In addition, when SRPX2-deficient mouse pups were separated from their mothers, they did not emit high-pitched distress calls as other pups do, indicating they lacked the rodent equivalent of early language ability.

Other researchers’ analyses of the human genome have found that mutations in SRPX2 are associated with language disorders and epilepsy, and when Huganir’s team injected the human SRPX2 with the same mutations into the fetal mice, they also had deficits in their vocalization as young pups.

Another research group at Institut de Neurobiologie de la Méditerranée in France had previously shown that SRPX2 interacts with FoxP2, a gene that has gained wide attention for its apparently crucial role in language ability.

Huganir’s team confirmed this, showing that FoxP2 controls how much protein the SRPX2 gene makes and may affect language in this way. “FoxP2 is famous for its role in language, but it’s actually involved in other functions as well,” Huganir comments. “SRPX2 appears to be more specialized to language ability.” Huganir suspects that the gene may also be involved in autism, since autistic patients often have language impairments, and the condition has been linked to defects in synapse formation.

This study is only the beginning of teasing out how SRPX2 acts on the brain, Sia says. “We’d like to find out what other proteins it acts on, and how exactly it regulates synapses and enables language development.”

Filed under synapses language development autism epilepsy genetics neuroscience science

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Child neurologist finds potential route to better treatments for Fragile X, autism

When you experience something, neurons in the brain send chemical signals called neurotransmitters across synapses to receptors on other neurons. How well that process unfolds determines how you comprehend the experience and what behaviors might follow. In people with Fragile X syndrome, a third of whom are eventually diagnosed with Autism Spectrum Disorder, that process is severely hindered, leading to intellectual impairments and abnormal behaviors.

In a study published in the online journal PLoS One, a team of UNC School of Medicine researchers led by pharmacologist C.J. Malanga, MD, PhD, describes a major reason why current medications only moderately alleviate Fragile X symptoms. Using mouse models, Malanga discovered that three specific drugs affect three different kinds of neurotransmitter receptors that all seem to play roles in Fragile X. As a result, current Fragile X drugs have limited benefit because most of them only affect one receptor.

Nearly one million people in the United States have Fragile X Syndrome, which is the result of a single mutated gene called FMR1. In people without Fragile X, the gene produces a protein that helps maintain the proper strength of synaptic communication between neurons. In people with Fragile X, FMR1 doesn’t produce the protein, the synaptic connection weakens, and there’s a decrease in synaptic input, leading to mild to severe learning disabilities and behavioral issues, such as hyperactivity, anxiety, and sensitivity to sensory stimulation, especially touch and noise.

More than two decades ago, researchers discovered that – in people with mental and behavior problems – a receptor called mGluR5 could not properly regulate the effect of the neurotransmitter, glutamate. Since then, pharmaceutical companies have been trying to develop drugs that target glutamate receptors. “It’s been a challenging goal,” Malanga said. “No one so far has made it work very well, and kids with Fragile X have been illustrative of this.”

But there are other receptors that regulate other neurotransmitters in similar ways to mGluR5. And there are drugs already available for human use that act on those receptors. So Malanga’s team checked how those drugs might affect mice in which the Fragile X gene has been knocked out.

By electrically stimulating specific brain circuits, Malanga’s team first learned how the mice perceived reward. The mice learned very quickly that if they press a lever, they get rewarded via a mild electrical stimulation. Then his team provided a drug molecule that acts on the same reward circuitry to see how the drugs affect the response patterns and other behaviors in the mice.

His team studied one drug that blocked dopamine receptors, another drug that blocked mGluR5 receptors, and another drug that blocked mAChR1, or M1, receptors. Three different types of neurotransmitters – dopamine, glutamate, and acetylcholine – act on those receptors. And there were big differences in how sensitive the mice were to each drug.

“Turns out, based on our study and a previous study we did with my UNC colleague Ben Philpot, that Fragile X mice and Angelman Syndrome mice are very different,” Malanga said. “And how the same pharmaceuticals act in these mouse models of Autism Spectrum Disorder is very different.”

Malanga’s finding suggests that not all people with Fragile X share the same biological hurdles. The same is likely true, he said, for people with other autism-related disorders, such as Rett syndrome and Angelman syndrome.

“Fragile X kids likely have very different sensitivities to prescribed drugs than do other kids with different biological causes of autism,” Malanga said.

(Source: news.unchealthcare.org)

Filed under fragile x syndrome glutamate neurotransmitters autism acetylcholine dopamine neuroscience science

121 notes

Theatre offers promise for youth with autism 
A novel autism intervention program using theatre to teach reciprocal communication skills is improving social deficits in adolescents with the disorder that now affects an estimated one in 88 children, Vanderbilt University researchers released today in the journal Autism Research.
The newly released study assessed the effectiveness of a two-week theatre camp on children with autism spectrum disorder and found significant improvements were made in social perception, social cognition and home living skills by the end of the camp. There were also positive changes in the participants’ physiological stress and reductions in self-reported parental stress.
Called SENSE Theatre, the Social Emotional Neuroscience & Endocrinology (SENSE) program evaluates the social functioning of children with autism and related neurodevelopmental disorders.
Camp participants ages 8 to 17 years join with typically developing peers who are specially trained to serve as models for social interaction and communication, skills that are difficult for children with autism. The camp uses techniques such as role-play and improvisation and culminates in public performances of a play.
“The findings show that treatment can be delivered in an unconventional setting, and children with autism can learn from unconventional ‘interventionists’ – their typically developing peer,” said lead author Blythe Corbett, Ph.D., associate professor of Psychiatry.
Social perception and interaction skills were measured before and after the camp using neuropsychological measures, play with peers and parental reporting. Significant differences were found in face processing, social awareness and social cognition, and duration of interaction with familiar peers increased significantly over the course of the camp.
Additionally, the stress hormone cortisol was measured through saliva samples taken both at home and throughout the camp to compare the stress level of participants at home, at the beginning of the camp and at the end of the camp. Cortisol levels rose on the first day of camp when compared to home values but declined by the end of treatment and during post-treatment play with peers.
“Our findings show that the SENSE Theatre program contributes to improvement in core social deficits when engaging with peers both on and off the stage,” Corbett said. “This research also shows it’s never too late to make a significant difference in the lives of children and youth with autism spectrum disorder, as [this program] targets children who are much older than kids who are participating in early intervention, yet we are still seeing significant gains in the core deficits of autism, and in a rather brief intervention.”
This research was supported by the Martin McCoy-Jesperson Discovery Grant in Positive Psychology and a grant from the National Institute of Mental Health (Grant No. R01 MH085717).
Corbett will continue using theatre techniques to study areas of social functioning among children with autism through a newly awarded grant from the National Institute of Mental Health (Grant No. R34 MH097793). This forthcoming study will explore treatment length and peer familiarity as factors in optimizing and generalizing gains and will enroll more than 30 youth with autism ages 8 to 16 in a 10-week program model beginning January 2014.

Theatre offers promise for youth with autism

A novel autism intervention program using theatre to teach reciprocal communication skills is improving social deficits in adolescents with the disorder that now affects an estimated one in 88 children, Vanderbilt University researchers released today in the journal Autism Research.

The newly released study assessed the effectiveness of a two-week theatre camp on children with autism spectrum disorder and found significant improvements were made in social perception, social cognition and home living skills by the end of the camp. There were also positive changes in the participants’ physiological stress and reductions in self-reported parental stress.

Called SENSE Theatre, the Social Emotional Neuroscience & Endocrinology (SENSE) program evaluates the social functioning of children with autism and related neurodevelopmental disorders.

Camp participants ages 8 to 17 years join with typically developing peers who are specially trained to serve as models for social interaction and communication, skills that are difficult for children with autism. The camp uses techniques such as role-play and improvisation and culminates in public performances of a play.

“The findings show that treatment can be delivered in an unconventional setting, and children with autism can learn from unconventional ‘interventionists’ – their typically developing peer,” said lead author Blythe Corbett, Ph.D., associate professor of Psychiatry.

Social perception and interaction skills were measured before and after the camp using neuropsychological measures, play with peers and parental reporting. Significant differences were found in face processing, social awareness and social cognition, and duration of interaction with familiar peers increased significantly over the course of the camp.

Additionally, the stress hormone cortisol was measured through saliva samples taken both at home and throughout the camp to compare the stress level of participants at home, at the beginning of the camp and at the end of the camp. Cortisol levels rose on the first day of camp when compared to home values but declined by the end of treatment and during post-treatment play with peers.

“Our findings show that the SENSE Theatre program contributes to improvement in core social deficits when engaging with peers both on and off the stage,” Corbett said. “This research also shows it’s never too late to make a significant difference in the lives of children and youth with autism spectrum disorder, as [this program] targets children who are much older than kids who are participating in early intervention, yet we are still seeing significant gains in the core deficits of autism, and in a rather brief intervention.”

This research was supported by the Martin McCoy-Jesperson Discovery Grant in Positive Psychology and a grant from the National Institute of Mental Health (Grant No. R01 MH085717).

Corbett will continue using theatre techniques to study areas of social functioning among children with autism through a newly awarded grant from the National Institute of Mental Health (Grant No. R34 MH097793). This forthcoming study will explore treatment length and peer familiarity as factors in optimizing and generalizing gains and will enroll more than 30 youth with autism ages 8 to 16 in a 10-week program model beginning January 2014.

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Research finds brain scans may aid in diagnosis of autism

Joint research from the University of Alabama at Birmingham Department of Psychology and Auburn University indicates that brain scans show signs of autism that could eventually support behavior-based diagnosis of autism and effective early intervention therapies. The findings appear online today in Frontiers in Human Neuroscience as part of a special issue on brain connectivity in autism.

“This research suggests brain connectivity as a neural signature of autism and may eventually support clinical testing for autism,” said Rajesh Kana, Ph.D., associate professor of psychology and the project’s senior researcher. “We found the information transfer between brain areas, causal influence of one brain area on another, to be weaker in autism.”

The investigators found that brain connectivity data from 19 paths in brain scans predicted whether the participants had autism, with an accuracy rate of 95.9 percent.

Kana, working with a team including Gopikrishna Deshpande, Ph.D., from Auburn University’s MRI Research Center, studied 15 high-functioning adolescents and adults with autism, as well as 15 typically developing control participants ages 16-34 years. Kana’s team collected all data in his autism lab at UAB that was then analyzed using a novel connectivity method at Auburn.

The current study showed that adults with autism spectrum disorders processed social cues differently than typical controls. It also revealed the disrupted brain connectivity that explains their difficulty in understanding social processes.

“We can see that there are consistently weaker brain regions due to the disrupted brain connectivity,” Kana said. “There’s a very clear difference.”

Participants in this study were asked to choose the most logical of three possible endings as they watched a series of comic strip vignettes while a functional MRI scanner measured brain activity.

The scenes included a glass about to fall off a table and a man enjoying the music of a street violinist and giving him a cash tip. Most participants in the autism group had difficulty in finding a logical end to the violinist scenario, which required an understanding of emotional and mental states. The current study showed that adults with autism spectrum disorders struggle to process subtle social cues, and altered brain connectivity may underlie their difficulty in understanding social processes.

“We can see that the weaker connectivity hinders the cross-talk among brain regions in autism,” Kana said.

Kana plans to continue his research on autism.

“Over the next five to 10 years, our research is going in the direction of finding objective ways to supplement the diagnosis of autism with medical testing and testing the effectiveness of intervention in improving brain connectivity,” Kana said.

Autism is currently diagnosed through interviews and behavioral observation. Although autism can be diagnosed by 18 months, in reality, earliest diagnoses occur around ages 4-6 as children face challenges in school or social settings.

“Parents usually have a longer road before getting a firm diagnosis for their child now,” Kana said. “You lose a lot of intervention time, which is so critical. Brain imaging may not be able to replace the current diagnostic measures; but if it can supplement them at an earlier age, that’s going to be really helpful.”

(Source: uab.edu)

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Video could transform how schools serve teens with autism

Video-based teaching helps teens with autism learn important social skills, and the method eventually could be used widely by schools with limited resources, a Michigan State University researcher says.

The diagnosis rate for Autism Spectrum Disorder for 14- to 17-year-olds has more than doubled in the past five years, according to the Centers for Disease Control and Prevention. Yet previous research has found very few strategies for helping adolescents with autism develop skills needed to be successful, especially in group settings.

“Teaching social skills to adolescents with ASD has to be effective and practical,” said Joshua Plavnick, assistant professor of special education at MSU. “Using video-based group instruction regularly could promote far-reaching gains for students with ASD across many social behaviors.”

Plavnick developed group video teaching techniques with colleagues while a postdoctoral fellow at the University of North Carolina’s Frank Porter Graham Child Development Institute. Their findings are published in the research journal Exceptional Children.

Previous studies have shown many people with autism are more likely to pay attention when an innovative technology delivers information. Before Plavnick’s work, however, there were no investigations of video modeling as an option for teaching social skills to more than one adolescent with ASD at the same time.

The team recruited 13- to 17-year-old students with ASD and used laptops or iPads to offer group video instruction on social behaviors, such as inviting a peer to join an activity. One facilitator showed four students video footage of people helping one another clean up a mess, for example, and then gave them opportunities to practice the same skills in the classroom.

According to the researchers, the students demonstrated a rapid increase in the level of complex social behaviors each time video-based group instruction was used. Students sustained those social behaviors at high levels, even when the videos were used less often.

The students’ parents also completed anonymous surveys and indicated high levels of satisfaction. One reported their child started asking family members to play games together, a skill the teen had never before displayed at home.

Most schools do not have appropriate staff resources to provide one-on-one help for students with autism. The video can be used with a small group all at once and has been shown to be effective.

“Video-based group instruction is important, given the often limited resources in schools that also face increasing numbers of students being diagnosed with ASD,” said Plavnick, who also has begun implementing the strategy as part of a daily high school-based program.

(Source: msutoday.msu.edu)

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