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Friday, June 20, 2014

Someone near and dear to me had a hand in this...

FACE autism research lab launched

By Dan O'Brien 
April 14, 2014
For the purposes of a photo demonstration, a 12-year-old girl (who is not a patient) is outfitted with reflective markers that help autism researchers in Emerson's new FACE lab examine facial expressions. (Photo by Kelsey Davis '14)
Emerson’s Communication Sciences and Disorders Department (CSD) has established a new laboratory specifically for autism research with the help of a $1.5 million grant from the National Institutes of Health (NIH) awarded to Assistant Professor Ruth Grossman.
The four-year grant has provided for state-of-the-art equipment that tracks eye gaze and facial movements with astounding precision. The grant also supports a postdoctoral fellow, Darren Hedley, and a research assistant in Emerson’s new Facial Affective and Communicative Expressions (FACE) Lab, on the second floor of the State Transportation Building, overseen by Grossman.
This federal funding for the autism-focused work ofGrossman and other researchers in CSD comes as a new U.S. Centers for Disease Control study shows one in 68 children has autism.
Grossman’s research will focus on interpretation and production of nonverbal cues, including facial expressions, by adolescents with high-functioning autism.
“The reason I am interested in studying this particular population,” Grossman said, “is that they have all the cognitive and verbal skills to be successful members of society. But they fall short of achieving their potential because they are often perceived as awkward and therefore have difficulties with their peers at school, or with getting and keeping a job. If we can find a way to help them over this hurdle of social awkwardness, it will be a tremendous benefit for this growing population.”
Grossman hopes to make progress in this area with the help of the FACE Lab’s new motion-capture equipment that can measure how different parts of the face move and interact with each other by tracking the motion of 32 reflective markers applied to the faces of participants.  
In addition to reflective markers on their faces, research subjects will respond to stimuli on a video screen using video game controllers in the FACE lab. (Photo by Kelsey Davis '14)
“I want to use this technique to try to quantify ‘awkward,’” Grossman said. “If we can understand how the faces of kids with autism move differently from those of their typically developing peers and how that causes this perceived awkwardness, we will be one step closer to designing treatment approaches aimed at improving the social integration of these kids.” 
FACE Vicon
The Vicon motion-capture cameras in the FACE lab are decorated with knit caps, children's drawings, and other playful items to make the technology seem less daunting to children enrolled in the studies. (Photo by Kelsey Davis '14)
The six infrared Vicon motion-capture cameras in the lab are decorated with knit caps, children’s drawings, and other playful items to make the technology seem less daunting to children enrolled in the studies. The equipment is capable of recording three-dimensional coordinates of each marker at up to 515 frames per second. 
The young participants may be asked to use a video game controller to indicate whether images on the screen make them feel happy or sad, or will simply have to repeat a sentence or expression they see on the screen while their facial expressions are being recorded by the Vicon cameras. There is also a microphone to record their verbal responses.
In this demonstration, a girl responds to stimuli on a video screen in the FACE Lab at Emerson. (Photo by Kelsey Davis '14)
“We will also analyze their prosody, or tone of voice, as well as their vocal quality,” Grossman said. “We’ll record their voices to determine whether they are portraying the correct emotion, sound natural, and what types of pauses and rhythm they use when speaking.” 
Much of the analysis of the motion capture and voice data will be done in collaboration with researchers at other institutions, including the University of Southern California and the University of Aarhus in Denmark.
In addition to the motion capture projects, Grossman will use an infrared Remote Eye-tracker made by SensoMotoric Instruments that can take up to 500 snapshots per second of a person’s eye movement.
“Typically developing individuals tend to focus on the same areas on faces at the same time, but children with autism spectrum disorders often show significantly different gaze patterns,” Grossman said. “We want to investigate those patterns, so we can better understand what type of communicative and emotional information these kids are potentially missing by looking at the wrong places at the wrong time.”
FACE Darren
In this photo demonstration, Darren Hedley, a postdoctoral fellow who recently began working in the FACE Lab, uses a picture book with a 6-year-old girl (who is not a patient) as part of a standardized test to examine language and cognitive abilities. (Photo by Kelsey Davis '14)
Additionally, the FACE Lab will use some less technologically based techniques to work with research participants, including standardized tests to characterize the language and cognitive abilities of participants with and without autism.
The NIH grant is one of two that faculty members in the Department of Communication Sciences and Disorders received this year to aid in autism research. Rhiannon Luyster, together with three CSD colleagues, received a $41,000 grant from the National Science Foundation that aided in the purchase of a second SensoMotoric Instruments infrared eye tracker.
The FACE Lab is holding an open house for the Emerson community on Monday, April 28, from 4:00 to 6:30 pm, at its location in the State Transportation Building, second floor, Room 225. 

Wednesday, June 11, 2014

Autism research worth reading

Hormone Levels in Womb Tied to Autism Risk in Boys: Study

Experts caution that finding is preliminary, with no current implications for treatment or prevention
Tuesday, June 3, 2014
Related MedlinePlus Pages
TUESDAY, June 3, 2014 (HealthDay News) -- Some boys with autism may have been exposed to slightly elevated levels of certain hormones in the womb, a new study suggests -- though it's not clear yet what the finding means.
Researchers found that of 345 boys with and without autism, those with the disorder had somewhat higher levels of steroid hormones in stored samples of their amniotic fluid. Specifically, they had elevated levels of four sex hormones, including testosterone and progesterone, and the stress hormone cortisol.
Experts said it's not yet clear what to make of the results, published online Tuesday in Molecular Psychiatry. And, it's important to note that the study doesn't prove that the elevated hormone levels caused autism, only that there appeared to be a connection between autism and higher levels of steroid hormones.
"This doesn't say anything about the role of steroid hormones in autism development," said Alycia Halladay, senior director of environmental and clinical sciences for the advocacy group Autism Speaks.
But the findings do raise questions for further research, according to Halladay, who was not involved in the research.
It's possible that steroid hormones, themselves, are the culprit, since research suggests they affect fetal brain development, according to Simon Baron-Cohen, the lead researcher on the new study.
"Elevated steroid levels could directly change gene expression in the brain," said Baron-Cohen, who directs the Autism Research Center at the University of Cambridge in the U.K.
On the other hand, he said, the hormone elevations could be the result of some other, unknown factor.
Autism spectrum disorders refer to a range of neurodevelopmental disorders. These disorders are characterized by social difficulties, communication problems and repetitive behaviors, according to the National Institute of Neurological Disorders and Stroke. In the U.S., an estimated one in 68 children has been diagnosed with autism spectrum disorder, according to the U.S. Centers for Disease Control and Prevention.
For the study, the researchers used stored samples from a large pool of Danish women who underwent amniocentesis between 1993 and 1999. Amniocentesis involves drawing a small amount of fluid from the sac around the fetus; it's typically offered to women who are at increased risk of having a baby with a birth defect.
Baron-Cohen's team compared samples from 128 boys who developed autism with those from 217 boys without autism. They said they excluded girls because only a small number had autism, and other factors made it too difficult to compare steroid hormone levels between those girls and typically developing girls.
Among the boys, those with autism tended to have higher prenatal steroid hormone levels.
Still, Halladay noted, the average difference between the groups was small -- and it's hard to know the possible significance. But, figuring out why there was a difference at all might give insight into some causes of the disorder, according to Halladay.
She said that certain environmental exposures may affect steroid hormone levels -- including "endocrine-disrupting" chemicals found in plastics, metal food cans and other everyday products.
But so far, Halladay said, studies have failed to find a link between those chemicals and autism risk.
Both Baron-Cohen and Halladay stressed that the current study's findings have no practical use for now.
"This doesn't mean pregnant women should ask for amniocentesis to have their hormone levels measured," Halladay cautioned.
And, Baron-Cohen said, there are no grounds for treating autism with hormone-blocking drugs.
Another autism expert stressed that the disorder is thought to arise from a complicated mix of genetic vulnerability and environment.
"It's extremely complex, and it's not going to come down to just one factor," said Dana Levy, an assistant professor of child and adolescent psychology at NYU Langone Medical Center in New York City.
Scientists have already linked a few hundred genes to autism, and studies are investigating potential environmental factors -- from toxic chemicals to infections during pregnancy.
"Researchers are coming at this from every angle to try to understand what is happening in autism," Levy said.
Boys are at particular risk, being affected almost five times more often than girls. And that is one of the big mysteries of autism, Levy noted.
Baron-Cohen speculated that his findings hint at one explanation. The elevated hormones in this study included not only testosterone, but precursors to testosterone.
However, everyone said more studies, including studies of girls with autism, are needed before any conclusions can be made.
For now, Baron-Cohen said the results can be seen as more evidence that the origins of autism go back to the womb.
SOURCES: Simon Baron-Cohen, FBA, director, Autism Research Center, University of Cambridge, U.K.; Alycia Halladay, Ph.D., senior director, environmental and clinical sciences, Autism Speaks, New York City; Dana Levy, Psy.D., clinical assistant professor, child and adolescent psychology, NYU Langone Medical Center, New York City; June 3, 2014 Molecular Psychiatry online


Genetic 'Networks' May Play Role in Autism

Finding might provide new targets for drugs to treat disorder, researchers say
By Mary Elizabeth Dallas
Friday, June 6, 2014
HealthDay news image
FRIDAY, June 6, 2014 (HealthDay News) -- Three new gene networks that appear to have important roles in the development of autism have been found, researchers report.
One of the autism-related gene networks also affects some patients with attention-deficit hyperactivity disorder (ADHD) and schizophrenia, the study authors noted.
These gene networks offer potential targets for new medications for these conditions, according to the researchers.
Autism spectrum disorders (ASDs) can cause restricted behaviors as well as problems with children's social interaction and communication. ADHD is a disorder that affects impulsivity and attention.
In general, the symptoms and the genetics of these disorders are often different, according to study author Dr. Hakon Hakonarson, director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.
"However, the common biological patterns we are finding across disease categories strongly imply that focusing on underlying molecular defects may bring us closer to devising therapies," Hakonarson said in a hospital news release.
The genome-wide association study, published online June 6 in Nature Communications, involved more than 6,700 patients with an autism spectrum disorder. These patients were compared to more than 12,500 people who did not have autism.
Researchers found three gene networks, which include a family of proteins that regulate cell signaling and neurotransmitters. Neurotransmitters are substances that help cells communicate with each other. Another gene network implicated is involved in cancer development and may help explain the reported link between autism and certain forms of cancer.
The researchers also focused on a pathway involving a family of genes that affects the neurotransmitter glutamate. They explained that glutamate plays a significant role in certain brain functions, such as memory, learning, thinking, attention and behavior. The researchers noted these are all processes that are relevant to autism.
Previous studies have shown that at least 10 percent of patients with ADHD also have changes in this pathway. Scientists have also suggested that these gene defects are linked to schizophrenia.
The study's authors are planning a clinical trial to test a drug that activates this pathway on certain ADHD patients.
"If drugs affecting this pathway prove successful in this subset of patients with ADHD, we may then test these drugs in autism patients with similar gene variants," Hakonarson explained.
The study authors noted that larger studies are needed to investigate the genetics of autism, particularly the brain's glutamate signaling pathway.
"Even though our own study was large, it captures only about 20 percent of genes causing ASDs," said Hakonarson.
SOURCE: Children's Hospital of Philadelphia, news release, June 6, 2014