Posted on Autism

Study shows visual evoked potential is a promising tool for translational research into autism

Autism and siblings

Researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai have identified specific transient visual evoked potential waveform abnormalities in individuals with Phelan-McDermid syndrome (PMS), proving the method to be an effective, noninvasive technique to gather objective data from a range of individuals, including those who are profoundly affected. The study results were published online July 23 in the Journal of the American Academy of Child and Adolescent Psychiatry (JAACAP).

A visual evoked potential measures electrical activity in the brain by evoking a brain response to a visual stimulus, such as an alternating checkerboard on a computer screen. Responses are recorded from electrodes that are placed on the scalp and are observed as a reading on an electroencephalogram. Phelan-McDermid syndrome is a rare disorder caused by mutations in the SHANK3 gene and is a leading single-gene cause of autism.

The study results suggest that there is a link between the magnitude of loss of function in the SHANK3 gene and subsequent dysregulation of glutamate, a powerful excitatory neurotransmitter that plays an important role in learning and memory.

“Visual evoked potentials (VEPs) can be collected rapidly, repeated frequently, and are a cost-effective method with strong translational potential across human and animal studies,” said Paige Siper, PhD, Chief Psychologist at the Seaver Autism Center and first author of the publication. “With this approach, the availability of treatments targeting core mechanistic disturbances in Pheland-McDermid syndrome and autism may progress more rapidly, thereby making a significant clinical contribution.”

The data collected from the study also provide information about the underlying neurophysiology of Phelan-McDermid syndrome, offering a noninvasive method to examine excitatory and inhibitory neurotransmission that holds promise for stratification and surrogate endpoints in ongoing clinical trials for Pheland-McDermid syndrome and autism.

The results are based on data from 175 children, including 31 with Phelan-McDermid syndrome, 79 with idiopathic autism, 45 typically developing controls, and 20 unaffected siblings of children with the syndrome. Stimuli included standard and short-duration contrast-reversing checkerboard conditions.

The results show that gene deletion size is significantly correlated with the amplitude of an initial negative peak, thought to reflect excitatory activity—while no significant differences between the typically developing and sibling control groups were identified. Both control groups showed significantly stronger VEPs responses compared to the syndrome group, while a subset of children with idiopathic autism displayed a similar response pattern to the Phelan-McDermid syndrome group.

VEPs will now be examined as a biomarker of Phelan-McDermid syndrome and will measure treatment efficacy in ongoing clinical trials in the syndrome.

Posted on Autism

Support for adults with autism

Professor Robyn Young

Professor of Psychology Robyn Young, Flinders University, Australia. CREDIT Flinders University

Autistic adults may have different behaviours or perspectives in the workplace or in social situations which may lead them into compromised situations. Some might be excluded from social and job opportunities, taken advantage of financially or by criminals.

With this in mind, Flinders University and other experts have developed a new screening system to give autism researchers and clinicians working with autistic adults fresh insights into ‘perspective taking’ difficulties.  

A tool to give an initial assessment of the Theory of Mind in Autistic Adults (A-ToM-Q) has been evaluated by experts in the field from Australia and the UK.

They used a simple questionnaire and series of short clips to test reactions and responses from about 100 autistic (diagnosed with autism, ASD, Asperger Syndrome etc in South Australia and England) and a sample of non-autistic adults matched for verbal abilities.

The research showed that limitations in drawing the appropriate inferences from these stimuli is predictive of individuals’ social-behavioural and interpersonal interaction difficulties, as well as the ability to extricate oneself from misplaced suspicion of involvement in some criminal activity.

While diagnosis of autism spectrum disorder in children and young people is widespread,  diagnosis of adults living with autism has not been widely adopted.

Flinders University researchers in the field, led by Professor of Psychology Robyn Young and Emeritus Professor Neil Brewer, have prepared a special series of ‘real world’ videos to expand on previously used methods of assessment using pen and paper written responses.

“The movie vignettes, scripted and filmed at Flinders, expand on previous Theory of Mind (ToM) Strange Stories test items, which provide a means of testing responses from higher functioning children and adults,” says Professor Young, who previously worked on a screening tool for autistic disorder suitable for use in children as young as 12 months of age.

“Played out in real time, this series gives participants an opportunity to respond to subtle social inferences as certain events and interactions unfold.

“As an online delivery, our data showed this was a more efficient and accurate way to get timely responses from participants, particularly when they are guided as individuals by an administrator with experience in the field,” Professor Young says.

Matthew Flinders Distinguished Professor Brewer says the new approach could be quickly used and scored, providing the opportunity to highlight individuals’ perspective-taking difficulties that may affect their social interactions.

The researchers have shown that limitations in drawing the appropriate inferences from these stimuli is predictive of individuals’ social-behavioural and interpersonal interaction difficulties, as well as the ability to extricate oneself from misplaced suspicion of involvement in some criminal activity.

“The value of this tool is that it provides a brief, reliable and valid tool to detect deficits in perspective taking among adults,” Professor Brewer says.

“While ToM deficit was not universal in autistic people, we might be able to better measure ToM to assist in identifying this deficit, and for whom it is an issue and hence target intervention more appropriately.”

Posted on Diabetes

New study: Half of people living with diabetes may be consuming less than the recommended amount of protein, which is associated with greater physical limitations

A new study conducted by The Ohio State University and Abbott showed that half of the adults surveyed living with diabetes did not consume the daily recommended intake of protein, which is associated with lower diet quality, increased carbohydrate intake, and greater physical limitations. The study highlights protein intake as an essential and often overlooked consideration in meeting the nutritional needs of people living with diabetes and its importance in supporting strength and mobility.


 

“We’ve long studied the impact of sugar consumption in people living with diabetes, but new data shed light on the critical association between low protein intake and diabetes,” said Christopher Taylor, Ph.D. R.D., lead researcher, and professor of Medical Dietetics at The Ohio State University School of Health and Rehabilitation Sciences. “Diabetes is associated with a risk for developing low muscle mass, which can lead to falls and other injuries. That’s why protein consumption—and awareness of the need for it—is critical to maintaining muscle mass and preserving functional mobility, which can help people living with diabetes live stronger overall lives.”

Published in the scientific journal of human nutrition, Nutrients, the retrospective cross-sectional analysis examined data from the National Health and Nutrition Examination Survey (NHANES) collected between 2005 and 2016 from more than 23,000 adults in the U.S. Key findings from the analysis include:

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  • People living with diabetes who did not consume the daily recommendation of protein on the day of intake reported a higher prevalence of physical limitations, including difficulty completing basic movements, such as stooping, crouching, kneeling, standing for long periods, and pushing or pulling large objects.
  • Adults with diabetes who met protein recommendations had better overall diet quality, more closely meeting dietary recommendations for total daily intake of vegetables, whole grains, dairy and added sugars.
  • People with diabetes who exhibited low protein intake showed significantly poorer nutrient density, lower overall diet quality, and consumed 12.5% more carbohydrates, which may negatively impact glucose levels.

“This study highlights the importance of the quality of foods in our diet as well as the quantity of nutrients we need daily—both of which have a significant impact on health and mobility, especially for people living with diabetes,” said Sara Thomas, Ph.D., R.D.N., a research scientist, and dietitian at Abbott specializing in diabetes. “Nutrition education will help people successfully manage a condition like diabetes, emphasizing the need to achieve a well-rounded diet with the right nutrients and avoid foods that are detrimental to optimal health.” 

Understanding the recommended daily intake requirements for macronutrients like protein, fat and carbohydrates, and more than 25 vitamins and minerals can be complicated. The National Academy of Medicine, formerly the Institute of Medicine, developed the Dietary Reference Intakes (DRIs), a set of reference values used to plan and assess nutrient intakes and provide recommended consumption levels. The DRIs recommend adults consume 0.36 grams of protein per pound of body mass each day, which means that a person weighing 150 pounds should consume 54 grams of protein per day. The DRI calculator can help determine individual nutrient needs for overall micro-and macronutrient intakes. Individuals should discuss results with a healthcare professional.

“This new research underscores Abbott’s long-time focus on diabetes care and will help us continue to support people living with this condition,” said Matt Beebe, divisional vice president and general manager of Abbott’s U.S. nutrition business. “At Abbott, we are continually working to advance our understanding so that we can enable a more holistic approach to managing diabetes from the point of diagnosis with industry-leading glucose monitoring and world-class nutrition.”

Posted on Diabetes

Rice team creating insulin-producing implant for Type 1 diabetes

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To 3D print vascularized hydrogels that can be turned into living tissue, Rice University bioengineers use (top left) a nontoxic liquid polymer that is (top middle) solidified one layer at a time by blue light. Yellow food coloring absorbs the light, allowing for the creation of passageways for flowing blood. Postdoctoral researcher Kristen Means (top right) displays a printed hydrogel that was secured (bottom right and middle) in a plastic housing for graduate student Madison Royse’s (bottom left) blood-flow demonstration using liquid dye. CREDIT Photos by Jeff Fitlow/Rice University

Rice University bioengineers are using 3D printing and smart biomaterials to create an insulin-producing implant for Type 1 diabetics.

The three-year project is a partnership between the laboratories of Omid Veiseh and Jordan Miller that’s supported by a grant from JDRF, the leading global funder of diabetes research. Veiseh and Miller will use insulin-producing beta cells made from human stem cells to create an implant that senses and regulates blood glucose levels by responding with the correct amount of insulin at a given time.

Veiseh, an assistant professor of bioengineering, has spent more than a decade developing biomaterials that protect implanted cell therapies from the immune system. Miller, an associate professor of bioengineering, has spent more than 15 years researching techniques to 3D print tissues with vasculature, or networks of blood vessels.

“If we really want to recapitulate what the pancreas normally does, we need vasculature,” Veiseh said. “And that’s the purpose of this grant with JDRF. The pancreas naturally has all these blood vessels, and cells are organized in particular ways in the pancreas. Jordan and I want to print in the same orientation that exists in nature.”

Type 1 diabetes is an autoimmune disease that causes the pancreas to stop producing insulin, the hormone that controls blood-sugar levels. About 1.6 million Americans live with Type 1 diabetes, and more than 100 cases are diagnosed each day. Type 1 diabetes can be managed with insulin injections. But balancing insulin intake with eating, exercise and other activities is difficult. Studies estimate that fewer than one-third of Type 1 diabetics in the U.S. consistently achieve target blood glucose levels.

Veiseh’s and Miller’s goal is to show their implants can properly regulate blood glucose levels of diabetic mice for at least six months. To do that, they’ll need to give their engineered beta cells the ability to respond to rapid changes in blood sugar levels.

“We must get implanted cells in close proximity to the bloodstream so beta cells can sense and respond quickly to changes in blood glucose,” Miller said.

Ideally, insulin-producing cells will be no more than 100 microns from a blood vessel, he said.

“We’re using a combination of pre-vascularization through advanced 3D bioprinting and host-mediated vascular remodeling to give each implant several shots at host integration,” Miller said.

The insulin-producing cells will be protected with a hydrogel formulation developed by Veiseh, who is also a Cancer Prevention and Research Institute of Texas Scholar. The hydrogel material, which has proven effective for encapsulating cell treatments in bead-sized spheres, has pores small enough to keep the cells inside from being attacked by the immune system but large enough to allow passage of nutrients and life-giving insulin.

“Blood vessels can go inside of them,” Veiseh said of the hydrogel compartments. “At the same time, we have our coating, our small molecules that prevent the body from rejecting the gel. So it should harmonize really well with the body.”

If the implant is too slow to respond to high or low blood sugar levels, the delay can produce a roller coaster-like effect, where insulin levels repeatedly rise and fall to dangerous levels.

“Addressing that delay is a huge problem in this field,” Veiseh said. “When you give the mouse — and ultimately a human — a glucose challenge that mimics eating a meal, how long does it take that information to reach our cells, and how quickly does the insulin come out?”

By incorporating blood vessels in their implant, he and Miller hope to allow their beta-cell tissues to behave in a way that more closely mimics the natural behavior of the pancreas.

Posted on Autism

Mom Describes How Her Autistic Son Lives Independently With Limited Help

A pretty challenging job.' Her son wants to live independently, but it's hard to find help - YouTube


Betsy Katz, whose son David Katz needs in-home supportive services due to his autism, describes the shortage of direct support professionals who can supervise her son, who wants to live independently, at David’s home in Rocklin on July 21, 2021.