Author: patienttalk

Posted on Autism

New research unveils three distinct language comprehension phenotypes in autistic children.

Largest study of language comprehension acquisition in autistic children reveals a more complex development process and advocates for new therapy approaches
Largest study of language comprehension acquisition in autistic children reveals a more complex development process and advocates for new therapy approaches

According to The National Institute on Deafness and Other Communication Disorders (NIDCD), Autism can affect children’s language development and communication in a variety of ways. While some children with autism may encounter difficulties communicating verbally, others exhibit impressive vocabularies and the ability to speak on specific topic areas in detail. A new study led by Boston University neuroscientist Dr. Andrey Vyshedskiy examines these unique pathways of language development in autistic children. Published in npj Mental Health Research, this research, encompassing data from over 31,000 autistic individuals, is the most extensive on language comprehension acquisition in autism. Dr. Vyshedskiy’s study supports an idea he had more than two decades ago: that language learning for autistic individuals doesn’t happen in a straight line but goes through three different stages. In this Q&A, he discusses the research’s key takeaways and implications for clinicians, educators, and caregivers.

Can you summarize the main insights from this study?

The common intuitive belief is that language comprehension development follows a linear trajectory: children acquire one grammatical rule at a time. Based on a neurological approach, I predicted over 20 years ago that language unfolds in three steps instead of linear development corresponding to three language comprehension mechanisms of increasing complexity. The new study of over 31,000 autistic individuals, published in npj Mental Health Research, validates this prediction. The implications of this discovery are important for philosophy, paleoanthropology, linguistics, clinical medicine, and improving language therapy interventions for children with autism.

What was the traditional understanding of how children develop language, and how does this research challenge that view?

The current practice of characterizing children’s communication ability only regarding their speech (i.e., verbal, nonverbal, or minimally verbal) is insufficient and one-sided. The new results show that communication abilities can vary independent of verbal abilities. For example, nonverbal children with full syntactic language comprehension have a normal ability to communicate, albeit nonverbally, while verbal children lacking syntactic language comprehension do not have a normal ability to communicate by any means. The new study demonstrates that the three identified language comprehension mechanisms are neurologically and clinically distinct from speech ability. A combined two-dimensional language characterization in terms of both language comprehension and verbal level will better identify children’s communication ability and lead to more children reaching their full linguistic potential.

How many people were involved in this study? How did the research team collect and analyze information?

This is the largest study of language comprehension acquisition in autistic children. It included over 31,000 individuals and was conducted by surveying parents via a language therapy app popular among families with children diagnosed with autism and other language deficits.

Based on your research findings, how might clinicians and educators adapt their approaches to assessment and intervention to better address the diverse communication abilities of autistic children?

Language comprehension in children is commonly assessed based on vocabulary. This evaluation method can grossly misrepresent the child’s actual language comprehension progress. Moreover, it encourages therapists to focus on vocabulary training at the expense of exercises that build full language comprehension. The new study provides evidence for creating new assessments evaluating the three mechanisms of language comprehension. These assessments are poised to improve language therapy interventions and enhance outcomes for individuals with language deficits.

What advice would you give to parents or caregivers based on the implications of this research for understanding and fostering language development in autistic children?

Focus all your efforts on improving your child’s language comprehension. Connecting words is more important than building vocabulary. Language comprehension exercises are included in the book I wrote for parents, This Way to Language: Four Things to Do at the First Sign of Autism.

Moving forward, what areas of research or practice do you believe warrant further exploration to better understand and help autistic children with their language development?

Our recent research demonstrates that the critical period for language acquisition is significantly shorter in autistic children compared to typical children. The shortened critical period may be the main culprit preventing autistic children from acquiring full language. These findings suggest that intensive language therapy has to start much earlier in children with suspected language deficits and encourage research into the possibility of pharmacological extension of the critical period for language acquisition.

Posted on Multiple Sclerosis

Groundbreaking study reveals potential diagnostic marker for multiple sclerosis years before symptom onset.

A new study published today in Nature Medicine unveils a significant breakthrough in the understanding and early detection of multiple sclerosis (MS).
A new study published today in Nature Medicine unveils a significant breakthrough in the understanding and early detection of multiple sclerosis (MS).

Researchers have identified a unique autoantibody signature present in approximately 10% of patients with MS years before the onset of clinical symptoms.

Autoantibodies are antibodies that are supposed to fight off invaders but end up turning against one’s own body, causing problems like autoimmune diseases. Utilizing the U.S. Department of Defense Serum Repository, a cohort encompassing more than 10 million individuals, researchers conducted whole-proteome autoantibody profiling on hundreds of MS patients’ samples collected before and after symptom onset. They discovered a distinct cluster of patients exhibiting an autoantibody signature targeting a common recognizable pattern. Notably, these patients showed antibody reactivity years before developing any MS symptoms and had elevated levels of serum neurofilament light (sNfL), indicating early neuroaxonal injury.

Danillo Augusto, Ph.D., an assistant professor in biology at the University of North Carolina at Charlotte and a co-author of the study, stated, “This study sheds light on the preclinical phase of MS and provides a promising avenue for early detection and intervention. Identifying patients at high risk of developing MS before symptom onset could revolutionize patient care and treatment strategies.”

Further validation of this autoantibody signature was conducted on samples from a separate MS cohort, confirming its high specificity for patients diagnosed with MS. This finding marks a significant milestone in MS research, potentially paving the way for the development of antigen-specific biomarkers for high-risk individuals with clinically or radiologically isolated neuroinflammatory syndromes.

Posted on Diabetes

Shoe technology reduces the risk of diabetic foot ulcers.

New shoe insole technology that helps reduce the risk of diabetic foot ulcers

About one-third of people with diabetes develop foot ulcers during their lifetime. In the U.S., more than 160,000 lower extremity amputations are performed annually due to complications from diabetic foot ulcers, costing the American health system about $30 billion a year. Those who have foot ulcers often die at younger ages than those without ulcers. CREDIT Courtesy UT Arlington

Researchers have developed a new shoe insole technology that helps reduce the risk of diabetic foot ulcers, a dangerous open sore that can lead to hospitalization and leg, foot or toe amputations.

“The goal of this innovative insole technology is to mitigate the risk of diabetic foot ulcers by addressing one of their most significant causes: skin and soft tissue breakdown due to repetitive stress on the foot during walking,” said Muthu B.J. Wijesundara, principal research scientist at The University of Texas at Arlington Research Institute (UTARI).

Affecting about 39 million people in the U.S., diabetes can damage the small blood vessels that supply blood to the nerves, leading to poor circulation and foot sores, also called ulcers. About one-third of people with diabetes develop foot ulcers during their lifetime. In the U.S., more than 160,000 lower extremity amputations are performed annually due to complications from diabetic foot ulcers, costing the American health system about $30 billion a year. Those who have foot ulcers often die at younger ages than those without ulcers.

“Although many shoe insoles have been created over the years to try to alleviate the problem of foot ulcers, studies have shown that their success in preventing them is marginal,” Wijesundara said. “We took the research a step further by creating a pressure-alternating shoe insole that works by cyclically relieving pressure from different areas of the foot, thereby providing rest periods to the soft tissues and improving blood flow. This approach aims to maintain the health of the skin and tissues, thereby reducing the risk of diabetic foot ulcers.”

In an article in the peer-reviewed International Journal of Lower Extremity Wounds, Wijesundara and UTA colleagues Veysel Erel, Aida Nasirian and Yixin Gu, along with Larry Lavery of UT Southwestern Medical Center, described their innovative insole technology. After this successful pilot project, the next step for the research team will be refining the technology to make it more accessible for users with varying weights and shoe sizes.

“Considering the impact of foot ulcers, it’s exciting that we may be able to make a real difference in the lives of so many people,” Wijesundara said.

Posted on Multiple Sclerosis

Signs of multiple sclerosis show up in blood years before symptoms.

UCSF scientists clear a potential path toward earlier treatment for MS that affects nearly 1,000,000 people in the United States
UCSF scientists clear a potential path toward earlier treatment for MS that affects nearly 1,000,000 people in the United States

 In a discovery that could hasten treatment for patients with multiple sclerosis (MS), UC San Francisco scientists have discovered a harbinger in the blood of some people who later went on to develop the disease.  
 
In about 1 in 10 cases of MS, the body begins producing a distinctive set of antibodies against its own proteins years before symptoms emerge. These autoantibodies appear to bind to both human cells and common pathogens, possibly explaining the immune attacks on the brain and spinal cord that are the hallmark of MS.  

The findings were published in Nature Medicine on April 19.
 
MS can lead to a devastating loss of motor control, although new treatments can slow the progress of the disease and, for example, preserve a patient’s ability to walk. The scientists hope the autoantibodies they have discovered will one day be detected with a simple blood test, giving patients a head start on receiving treatment.  
 
“Over the last few decades, there’s been a move in the field to treat MS earlier and more aggressively with newer, more potent therapies,” said UCSF neurologist Michael Wilson, MD, a senior author of the paper. “A diagnostic result like this makes such early intervention more likely, giving patients hope for a better life.” 
 
Linking infections with autoimmune disease 
 
Autoimmune diseases like MS are believed to result, in part, from rare immune reactions to common infections.  
 
In 2014, Wilson joined forces with Joe DeRisi, PhD, president of the Chan Zuckerberg Biohub SF and a senior author of the paper, to develop better tools for unmasking the culprits behind autoimmune disease. They took a technique in which viruses are engineered to display bits of proteins like flags on their surface, called phage display immunoprecipitation sequencing (PhIP-Seq), and further optimized it to screen human blood for autoantibodies. 
 
PhIP-Seq detects autoantibodies against more than 10,000 human proteins, enough to investigate nearly any autoimmune disease. In 2019, they successfully used it to discover a rare autoimmune disease that seemed to arise from testicular cancer. 
 
MS affects more than 900,000 people in the US. Its early symptoms, like dizziness, spasms, and fatigue, can resemble other conditions, and diagnosis requires careful analysis of brain MRI scans.  
 
The phage display system, the scientists reasoned, could reveal the autoantibodies behind the immune attacks of MS and create new opportunities to understand and treat the disease. 
 
The project was spearheaded by first co-authors Colin Zamecnik, PhD, a postdoctoral researcher in DeRisi’s and Wilson’s labs; and Gavin Sowa, MD, MS, former UCSF medical student and now internal medicine resident at Northwestern University. 
 
They partnered with Mitch Wallin, MD, MPH, from the University of Maryland and a senior author of the paper, to search for autoantibodies in the blood of people with MS. These samples were obtained from the U.S. Department of Defense Serum Repository, which stores blood taken from armed service members when they apply to join the military. 
 
The group analyzed blood from 250 MS patients collected after their diagnosis, plus samples taken five or more years earlier when they joined the military. The researchers also looked at comparable blood samples from 250 healthy veterans.  
 
Between the large number of subjects and the before-and-after timing of the samples, it was “a phenomenal cohort of individuals to look at to see how this kind of autoimmunity develops over the course of clinical onset of this disease,” said Zamecnik. 
 
A consistent signature of MS  
 
Using a mere one-thousandth of a milliliter of blood from each time point, the scientists thought they would see a jump in autoantibodies as the first symptoms of MS appeared. 
 
Instead, they found that 10% of the MS patients had a striking abundance of autoantibodies years before their diagnosis.   
 
The dozen or so autoantibodies all stuck to a chemical pattern that resembled one found in common viruses, including Epstein-Barr Virus (EBV), which infects more than 85% of all people, yet has been flagged in previous studies as a contributing cause for MS.  
 
Years before diagnosis, this subset of MS patients had other signs of an immune war in the brain. Ahmed Abdelhak, MD, co-author of the paper and a postdoctoral researcher in the UCSF laboratory of Ari Green, MD, found that patients with these autoantibodies had elevated levels of neurofilament light (Nfl), a protein that gets released as neurons break down. 
 
Perhaps, the researchers speculated, the immune system was mistaking friendly human proteins for some viral foe, leading to a lifetime of MS. 
 
“When we analyze healthy people using our technology, everybody looks unique, with their own fingerprint of immunological experience, like a snowflake,” DeRisi said. “It’s when the immunological signature of a person looks like someone else, and they stop looking like snowflakes that we begin to suspect something is wrong, and that’s what we found in these MS patients.” 
 
A test to speed patients toward the right therapies 
 
To confirm their findings, the team analyzed blood samples from patients in the UCSF ORIGINS study. These patients all had neurological symptoms and many, but not all, went on to be diagnosed with MS. 
 
Once again, 10% of the patients in the ORIGINS study who were diagnosed with MS had the same autoantibody pattern. The pattern was 100% predictive of an MS diagnosis. Across both the Department of Defense group and the ORIGINS group, every patient with this autoantibody pattern had MS. 
 
“Diagnosis is not always straightforward for MS, because we haven’t had disease specific biomarkers,” Wilson said. “We’re excited to have anything that can give more diagnostic certainty earlier on, to have a concrete discussion about whether to start treatment for each patient.” 
 
Many questions remain about MS, ranging from what’s instigating the immune response in some MS patients to how the disease develops in the other 90% of patients. But the researchers believe they now have a definitive sign that MS is brewing. 
 
“Imagine if we could diagnose MS before some patients reach the clinic,” said Stephen Hauser, MD, director of the UCSF Weill Institute for Neurosciences and a senior author of the paper. “It enhances our chances of moving from suppression to cure.” 

Posted on Multiple Sclerosis

Foods to Avoid with MS and Why!

Some foods should be avoided when living with Multiple Sclerosis (MS) or chronic illness. In this video learn how some foods may increase inflammation and possibly cause MS to progress faster or lead to comorbid conditions. Our diet plays a crucial role in our health and avoiding or decreasing certain foods will help us to live well with our disease.