Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more
•••

autism spectrum disorder

Oxytocin delivery via nanoparticles

The neuropeptide oxytocin, known for promoting social interactions, has attracted interest as a possible treatment for autism spectrum disorder. A challenge is getting the molecule past the blood-brain barrier. Many clinical studies have used delivery via nasal spray, but even then, oxytocin doesn’t last long in the body and shows inconsistent effects.

Emory neuroscientist Andrew Escayg has been collaborating with Mercer/LSU pharmacologist Kevin Murnane on a nanoparticle delivery approach that could get around these obstacles. One of Escayg’s primary interests is epilepsy — specifically Dravet syndrome, a severe genetic form of epilepsy — and oxytocin has previously displayed anti-seizure properties in animal models.

Escayg and Murnane’s recent paper in Neurobiology of Disease shows that when oxytocin is packaged into nanoparticles, it can increase resistance to induced seizures and promote social behavior in a mouse model of Dravet syndrome.

This suggests properly delivered oxytocin could have benefits on both seizures and behavior. In addition to seizures, children and adults with Dravet syndrome often have autism – see this Spectrum News article on the connections.

Escayg reports he is planning a collaboration with oxytocin expert Larry Young at Yerkes, who Tweeted “This is a promising new area of oxytocin research” when the paper was published. Senior postdoc Jennifer Wong has already been working on extending the findings to other mouse models of epilepsy and adding data on spontaneous seizure frequency.

The nanoparticle approach could be used for other neuropeptides such as neuropeptide Y, proposed as a treatment mode for anxiety disorders/PTSD, and hypocretin, the missing molecule in narcolepsy. Murnane formed a company when he was at Mercer to develop the technology.

Posted on December 7, 2020 by Quinn Eastman in Neuro Leave a comment

Mouse version of 3q29 deletion: insights into schizophrenia/ASD pathways

Scientists at Emory University School of Medicine have created a mouse model of human 3q29 deletion syndrome, which is expected to provide insights into the genetic underpinnings of both schizophrenia and autism spectrum disorder.

In 3q29 deletion syndrome, a stretch of DNA containing several genes is missing from one of a child’s chromosomes. The deletion usually occurs spontaneously rather than being inherited. Affected individuals have a higher risk of developing intellectual disability, schizophrenia, and autism spectrum disorder. 3q29 deletion is one of the strongest genetic risk factors for schizophrenia, and the Emory researchers see investigating it as a way of unraveling schizophrenia’s biological and genetic complexity.

The results were published in Molecular Psychiatry.

“We see these mice as useful tools for understanding the parts of the brain whose development is perturbed by 3q29 deletion, and how it affects males and females differently,” says Jennifer Mulle, PhD, assistant professor of human genetics. “They are also a starting point for dissecting individual genes within the 3q29 deletion.”

Working with clinicians and psychologists at Marcus Autism Center, Mulle is leading an ongoing study of 3q29 deletion’s effects in humans, and observations from the mice are expected to inform these efforts. (More about Mulle here.) Read more

Posted on July 11, 2019 by Quinn Eastman in Neuro Leave a comment

Let’s not elope

Elopement may sound cute, because the word evokes a starry-eyed couple running away to get married. Elopement also refers to when a child runs or wanders from a safe, supervised environment. It can be a worrisome concern among the parents and caregivers of children with autism spectrum disorder and/or intellectual disability.

Here is a straightforward post from Seattle Children’s on elopement. Cathy Rice, now director of Emory Autism Center and previously at the CDC, has published two papers on elopement.

This May, Nathan Call, director of Severe Behavior Programs at Marcus Autism Center, and colleagues published a retrospective review of their behavioral treatments for elopement, extending back to 2003. This is a companion to their 2015 analysis of treatment for pica, the ingestion of inedible substances. Call is also assistant professor of pediatrics at Emory University School of Medicine.

He summarized their approach by saying: “Individualizing treatment based upon the reason each child elopes seems to work very well.” The paper makes it clear that the reasons for a child eloping were a mixed bag: for some it was “access to preferred tangible items,” for others it was access to attention or other reasons.

Elopement in children with certain conditions can be challenging to research in a real-world context due to the high stakes involved; the consequences of not intervening can be catastrophic. For instance, Call recounted an incident involving a child whose fascination with balloons was so intense it affected his awareness of property values and safety. The child’s impulse to elope was triggered twice, each time leading to near-tragic accidents with vehicles, once because a colorful balloon display at a local real estate had irresistibly caught his attention. This highlights the critical need for vigilant supervision and safety strategies in such cases.

The 11 children in the review were ages 5 to 12, and 7 had a diagnosis of autism spectrum disorder – others had Down syndrome or intellectual disability. Read more

Posted on October 14, 2016 by Quinn Eastman in Neuro Leave a comment

Fragile X syndrome: building a case for a treatment strategy

New research in mice strengthens a potential strategy for treating fragile X syndrome, the most common inherited form of intellectual disability and a major single-gene cause of autism spectrum disorder.

The results, published April 23 in Cell Reports, suggest that a drug strategy targeting a form of the enzyme PI3 (phosphoinositide-3) kinase could improve learning and behavioral flexibility in people with fragile X syndrome. The PI3 kinase strategy represents an alternative to one based on drugs targeting mGluR5 glutamate receptors, which have had difficulty showing benefits in clinical trials.

Research led by Emory scientists Gary Bassell, PhD and Christina Gross, PhD had previously found that the p110β form of PI3 kinase is overactivated in the brain in a mouse fragile X model, and in blood cells from human patients with fragile X syndrome.

Now they have shown that dialing back PI3 kinase overactivation by using genetic tools can alleviate some of the cognitive deficits and behavioral alterations observed in the mouse model. Drugs that target the p110β form of PI3 kinase are already in clinical trials for cancer.

“Further progress in this direction could lead to a clinical trial in fragile X,” says Bassell, who is chair of Cell Biology at Emory University School of Medicine. “The next step is to test whether this type of drug can be effective in the mouse model and in human patient cells.” Read more

Posted on April 24, 2015 by Quinn Eastman in Neuro Leave a comment

Inclusive Environment Helps Children with Autism Spectrum Disorders Learn

The Monarch Program

The Monarch School Program is dedicated to providing information and resources to families and school systems throughout Georgia for the education of K-12 students with autism / autistic spectrum disorder.

Educators have known for a long time that children with Autism Spectrum Disorder (ASD) can learn a lot by being in a classroom with typical children. Inclusion (educating students within the general education classroom) gives children with special needs the opportunity to learn in a natural environment and the opportunity to learn social skills from interacting with their classmates. In addition, Inclusion can eventually lead to greater acceptance of these children in the community.

Unfortunately, teachers are not always trained how to help children with special needs function in a typical classroom, nor in ways to ensure successful imitation of the positive role models.

“Teachers do not necessarily have the specific training required to teach these children yet, too often, the children with ASD are placed in the classroom with the expectation that the teacher, or the student, will learn to adapt,” says Sheila Wagner, M.Ed., assistant director of the Emory Autism Center. “Without the training, many times the student faces failure, when success was the goal.”

In order to provide some guidance to the school system, the Emory Autism Center received a grant from the Childhood Autism Foundation (CADEF) in 1994 to develop a program that would address Inclusive Education for students with ASD.  With the help of CADEF, the Monarch Program was created. The program implemented a nationally recognized Inclusion Project that has reached hundreds of students with ASD, thousands of teachers through on-site technical assistance and training, and assisted thousands of typical students in learning about the autism spectrum and children with different behaviors and abilities.

“The Monarch Program has grown to provide school systems with a network of support from curriculum training, to teacher and home/school collaboration, to consultations and social skills curriculum,” says Wagner, who serves as the Program Manager of the Monarch School-Age Program at Emory.

“Because of the Monarch Inclusion Project, students with ASD are increasingly able to enjoy exposure to typical students, and teachers are offered some guidance in providing a positive classroom experience.”

Wagner began her experience in the field of autism more than 30 years ago and has published three books on inclusive programming for students with ASD, as well as a brochure on Asperger’s syndrome, and a chapter in Grandin & Attwood’s book Aspergers and Girls.

The Emory Autism Center is a component of the Department of Psychiatry and Behavioral Sciences at Emory University School of Medicine. The program was opened in 1991 as a public, private and University collaboration. Since opening, the Emory Autism Center has become a national model for diagnosis, family support and innovative treatment, as well as a vital source of professional training.

Posted on March 31, 2011 by Wendy Darling in Uncategorized Leave a comment