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More than 100 genes linked to autism in multinational study

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More than 100 genes appear to be involved in autism spectrum disorders, or ASD, according to the largest genetic study of the condition to date.

The study, involving over 50 centers around the globe, identified 102 genes associated with ASD — including a few dozen that had not been recognized before.

Some of the genes are also associated with intellectual disabilities and developmental delays, the researchers said. But others are unique to ASD, and appear related to the social difficulties that mark the disorder.

Knowing the genes involved in ASD will help researchers better understand the causes and possibly develop new drug therapies for children with severe impairments, said senior researcher Joseph Buxbaum.

“Autism exists on a spectrum, and many people wouldn’t need any new, targeted drug therapies because they’re doing fine,” said Buxbaum, who directs the Seaver Autism Center for Research and Treatment at Mount Sinai, in New York City.

But for children who are profoundly affected, he said, there could be promise in the “precision medicine” approach — treatments that are tailored to individuals based on their characteristics, like the genes they carry.

ASD is a brain disorder that affects social skills, communication and behavior control. In the United States, it affects one in 59 children, according to the U.S. Centers for Disease Control and Prevention.

The disorder is complex and varies widely from one person to the next. Some children have milder problems with socializing and communicating, while others are profoundly affected — speaking little, if at all, and getting wrapped up in repetitive, obsessive behaviors, for example. Some children with ASD have intellectual disabilities, while others have average or above-average IQs.

Experts have long believed that a combination of genetic susceptibility and environmental exposures conspire to cause ASD — but genes are the bigger factor. A recent study, of about 2 million people, estimated that genes account for 80 percent of the risk of ASD.

But the precise genes will vary among individuals, experts say.

“We realize that large studies like this — as well as even larger ones — will be needed to truly understand why we say, ‘If you have seen one person with autism, you have seen one person with autism,'” said Dean Hartley.

Hartley, who was not involved in the new study, is senior director of genomic discovery and translational science at the nonprofit Autism Speaks.

Previously, researchers had identified 65 genes associated with ASD. Buxbaum said his team was able to find more, in part, because of the study size: It involved over 35,000 people, including nearly 12,000 with ASD; the rest were their parents, unaffected siblings or other individuals without ASD.

Using newer analytic techniques, Buxbaum said, the researchers were able to zero in on 102 genes associated with ASD.

Some genes, he explained, are “high risk” and carry outright mutations. Most people with ASD — possibly 80 percent — would not harbor those, according to Buxbaum. Instead, they would carry “tiny, tiny changes across multiple genes,” he said.

More research is needed to understand precisely what all these genes do. But most risk genes are active early in brain development, and have roles in regulating the activity of other genes or communication among brain cells, the investigators found.

The risk genes are also active in both “excitatory” and “inhibitory” neurons, or nerve cells. That, Buxbaum said, shows that autism is not only related to one major type of brain cell — but involves “many disruptions” in brain cell function.

The findings were published online Jan. 23 in the journal Cell.

Dr. Andrew Adesman is chief of developmental and behavioral pediatrics at Cohen Children’s Medical Center, in New Hyde Park, N.Y. He said, “This study represents yet another major advance in our understanding of some of the underlying genetic causes for ASD.”

At this point, though, he noted, it’s not possible to root out the genetic cause in most children diagnosed with ASD.

Hartley agreed that the latest findings could eventually lead to new therapies. “This study importantly confirms previous biological pathways in autism, but has identified new biological processes possibly involved,” he added. “These pathways are important for finding new targets for treatment and more personalized health care.”

The hunt for ASD-related genes is not over, however. Buxbaum said he expects a “couple hundred more” will be found.

More information

The U.S. National Institute of Neurological Disorders and Stroke has more on autism spectrum disorder.

Copyright 2020 HealthDay. All rights reserved.



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Study: News media, influencers can double efficacy of COVID-19 prevention messages

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July 8 (UPI) — People who see educational messages on social media and in the news about the importance of hand-washing and social distancing to prevent the spread of COVID-19 are up to twice as likely to engage in the practices, according to a study published Wednesday by JAMA Network Open.

Those who viewed the messaging, which included a video and a newspaper article with “infographics,” were up to 50 percent more likely to avoid touching their face — which can also limit virus transmission — the researchers found.

“[Our] findings suggest that an evidence-based, large-scale public health campaign, distributed by a news media platform and social influencer, was associated with better personal hygiene,” the authors wrote.

More than 17,000 people participated in the study, which was conducted in the Netherlands in March and April. Researchers at VU University in the Netherlands, Mount Sinai Hospital in New York and Duke University contributed to the new paper.

Roughly half of the participants were shown an article — with graphics — from a major newspaper with information on hand-washing, social distancing and other COVID-19 prevention measures, a video produced by a social media influencer that provided guidance on these same measures or both, the researchers said.

The rest of the participants did not see these messages, they said.

All study participants were surveyed on their own hand-washing, social distancing and face-touching habits, according to the researchers. Those who saw one or both of the messaging platforms were surveyed before and after they did so, the researchers said.

Participants who saw the newspaper article and social media video were more than twice as likely to engage in recommended hand-washing practices, while those who saw the social media video alone were 31 percent more likely to do so, the study found.

Participants with COVID-19 symptoms were 10 percent more likely to practice social distancing after seeing both the social media video and the newspaper article, according to the researchers.

Participants who saw the article were 30 percent more likely to reduce face-touching, while those who saw both messages were 50 percent more likely to do so, the researchers said.

Dr. Mark McClellan, director of the Duke-Margolis Center for Health Policy, believes similar outreach efforts can improve compliance with mask-wearing and social distancing in the United States, which is currently seeing an uptick in COVID-19 cases in many parts of the country.

“For people who are younger, they probably need to be hearing this, not just from government officials but from people who are in their circles, their influencers, people who they respect,” said McClellan, former commissioner of the U.S. Food and Drug Administration under President George W. Bush.

McClellan, who was not part of the Netherlands study, was speaking to reporters on a conference call June 30.

“What [Americans] do with their actions, for the next few months, for the next six months, really is going to save lives if they take these steps,” he said. “The models show that [if] we get quite high rates of people following basic steps — distancing, using a mask, washing hands, staying home — for the next six months, we would contain the pandemic.”



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Probiotics may help ease depression, study shows

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Probiotic supplements might help ease depression symptoms in some people, a new research review suggests.

Researchers found that across seven small clinical trials, various probiotics seemed to improve symptoms in patients with clinical depression — at least in the short term.

The studies build on a growing research interest in the role of gut health — specifically, the balance of bacteria dwelling there — and brain health.

But experts stressed that the probiotic trials had a number of limitations, and it’s too soon to draw any conclusions.

For one, a “placebo effect” cannot be ruled out, according to Sanjay Noonan, the lead author on the research review.

And, he said, besides being small, the trials did not look at the longer term: All lasted about two to three months.

According to Noonan, “no definitive statements can be made” on whether people with depression stand to benefit from probiotics.

“It would be conjecture to try and suggest anything about the long-term efficacy of probiotic therapy,” he said.

Noonan and his colleagues at Brighton and Sussex Medical School in England reported the findings July 6 in the journal BMJ Nutrition, Prevention & Health.

Probiotics are live bacteria and yeast that naturally dwell in the body. Probiotic supplements are marketed as a way to restore a healthier balance of good bacteria.

The digestive system, in particular, hosts a vast array of bacteria and other microbes — known as the “gut microbiome.” And those organisms are believed to do more than just aid in digestion.

Research suggests the microbes are involved in everything from immune defenses to producing vitamins, anti-inflammatory compounds, and even chemicals that influence the brain.

Meanwhile, a number of studies have linked the makeup of the gut microbiome to the risks of various health conditions. These include brain-based conditions like Alzheimer’s and autoimmune diseases like type 1 diabetes and rheumatoid arthritis.

In a 2019 study, researchers found that people with depression showed differences in specific gut bacteria, versus those without depression. Levels of two types of bacteria — Coprococcus and Dialister — were reported to be “consistently depleted” in people with depression.

But none of that proves a lack of those bacteria, or any others, actually helps cause depression. And for now, no one knows if any probiotics can help treat it.

“It’s important to stress that this area of research is in an extremely early phase,” Noonan said.

He said the point of this review was to look at the existing evidence on probiotics, and not to offer answers.

The trials in the review each contained fewer than 100 people. And they most often tested any of three probiotic strains: L. acidophilus, L. casaei and B. bifidum. One trial tested a probiotic combined with a “prebiotic” — compounds that promote the growth of probiotics.

On average, the review found, study patients’ depression symptoms improved over two to three months. Some trials, however, did not include a comparison group that took inactive supplements, to help account for the placebo effect. (That’s the phenomenon in which people feel better simply because they are receiving treatment and believe it will work.)

Another issue is the trials give no clues on which bacterial strains might be helpful, according to John Cryan, a professor at University College Cork in Ireland.

“There is a tendency in the field to ‘lump’ all commercially available strains into the same category independent of the level of evidence there is,” Cryan told the nonprofit Science Media Centre.

But, he added, “we know that strains really matter, and this review is not able to identify what it is about specific strains that render them with beneficial effects.”

Kevin Whelan, a professor at King’s College London, made similar points. “Probiotics often contain different strains of bacteria, and we do not know if the supplements, sachets and fermented milks you find on supermarket shelves will work,” he told SMC.

Whelan also stressed that most patients in the trials were taking antidepressants.

“So it is crucial that probiotics are seen as complementary to standard treatments recommended by your doctor,” he said, “and not as an alternative.”

More information

The U.S. National Center for Complementary and Integrative Health has more on probiotics.

Copyright 2020 HealthDay. All rights reserved.



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Many COVID-19 hot spots affect areas around state borders, experts say

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July 8 (UPI) — Many current COVID-19 hotspots across the country are in areas along state borders because different governments have taken different approaches to contain spread of the new coronavirus, the experts behind the U.S. COVID Atlas said Wednesday.

This includes regions in Arkansas and Tennessee, as well as Louisiana and Mississippi, which are effectively separated by the Mississippi River, they said.

Parts of southern Arizona and California have also been similarly impacted, according to the researchers.

“With a patchwork of policies across the country, it’s not surprising to see hot spots along state borders,” Marynia Kolak, a member of the team that developed the atlas, said during a conference call with reporters Wednesday that was hosted by the Robert Wood Johnson Foundation.

In some states, “there have been a lot of mixed messages” from officials, said Kolak, who is assistant director for health informatics at the University of Chicago’s Center for Spatial Data Science.

As a result, the new coronavirus has spread even in areas of states with strict social distancing and mask-wearing measures because they border on states that have taken a less stringent approach, Kolak said.

Kolak and her colleagues developed the U.S. COVID Atlas in March, and the tool has been tracking confirmed cases of the virus across the country since.

This week, they added new “county-level data” for the pandemic that developed out of a partnership with County Health Rankings and Roadmaps, which tracks health and socioeconomic trends for all U.S. counties, she said.

With the new data, the atlas doesn’t necessarily identify counties at risk of an outbreak, but rather those that might be particularly vulnerable should one occur.

This could be due to high levels of poverty, poor overall health and lack of healthcare infrastructure, said Marjory Givens, deputy director of County Health Rankings and Roadmaps.

The county-level data highlights “underlying health inequities,” Givens said.

That includes differences in life expectancy and prevalence of conditions such as diabetes, heart disease and excessive drug and alcohol use, all of which have been linked with increase risk for severe illness and death from COVID-19, Givens said.

Even before the coronavirus pandemic, life expectancy varied across the United States by up to 40 years because of differences in overall health and access to healthcare services, said Givens, who also is associate director of the University of Wisconsin Population Health Institute.

The pandemic has served to underscore many of these differences in “Native American and segregated urban communities,” as well as in the so-called “Black Belt,” or poor, rural communities in the south with populations that have a majority of black people, Givens said.

The U.S. COVID Atlas is a free, open-source tool that is updated daily. In addition to historical data on the pandemic, it includes resources for local governments as they plan outbreak responses or take steps to improve overall health in the local communities, Kolak said.

With the new data from County Health Rankings & Roadmaps, the atlas “provides a more detailed landscape of the disease,” with information “previously hidden” by the focus on the national impact of the pandemic and its effects in large metropolitan areas, said Kolak, who worked on a similar tool for opioid epidemic.

“COVID-19 is a national story with a local experience and each hot spot has its own story,” she said.



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