Health
Intellectual disability disorder may be linked to a single, 'surprising' gene, research shows
- Scientists have identified the genetic basis of a disorder causing intellectual disability, affecting approximately one in 20,000 young people.
- The disorder is characterized by symptoms including short stature, small heads, seizures and low muscle mass.
- The discovery is expected to facilitate the development of a new diagnostic method, providing answers to affected families.
Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.
Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.
“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.
CHILDREN WITH INHERITED DEAFNESS HEAR FOR FIRST TIME THROUGH EXPERIMENTAL GENE THERAPY
Syndromes like these can go unnoticed because the traits are sometimes so subtle doctors can’t recognize them by just looking at patients, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study.
This microscope image shows the 46 human chromosomes, blue, with telomeres appearing as white pinpoints. Scientists have found the genetic cause of a neurodevelopmental disorder that they estimate affects as many as one in 20,000 young people. (Hesed Padilla-Nash, Thomas Ried/National Cancer Institute/National Institutes of Health via AP, File)
“So certainly this wasn’t something that we necessarily had a name for,” he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”
Researchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general are protein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don’t code for proteins.
This study used more comprehensive “whole-genome” sequencing data from 77,539 people enrolled in the British 100,000 Genomes Project, including 5,529 with an intellectual disability. The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential to develop intellectual disability.
The finding “opens the door to diagnoses” for thousands of families, said study author Andrew Mumford, research director of the South West England NHS Genomic Medicine Service.
More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment. But Billington said labs should be able to offer testing for this condition relatively quickly. And researchers said families should be able to find and support each other – and know they’re not alone.
“That can be incredibly comforting,” Mumford said.
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Fitness influencer and trainer Mark Langowski, known on social media as @bodybymark, hosted a pushup and plank competition in New York City this week, where he urged the public to get up and get moving.
On his platform of nearly two million Instagram followers, Langowski asks fit people to share their workout routines. He was able to meet more in-shape New Yorkers at his Washington Square Park meet-up, in partnership with Oikos yogurt on May 12.
A male and a female winner who achieved the most pushups or held a plank the longest were gifted $500 each.
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Besides the cash prize, the inspiration was to get more people moving, Langowski shared during an interview with Fox News Digital.
Fitness influencer and trainer Mark Langowski, known on social media as @bodybymark, hosted a pushup and plank competition in New York City this week, where he urged the public to get up and get moving. (Kelly McGreal/Fox News Digital)
“[It’s] a way to encourage strength and overall fitness in New York City and all around the country,” he said.
“We got together and we’re doing a plank competition, pushup competition. We had a guy just do 111 pushups. We’re just getting people moving.”
FITNESS EXPERT REVEALS SIMPLE RULE TO GET IN SHAPE WITHOUT DREADING THE GYM: ‘JUST MOVE’
Langowski said the attributes of a great competitor include strength, humility and confidence.
“The people who … did the most, they didn’t say they were going to do the most,” he said. “And there were other people who said they could do 150, and they did 70.”
Having a bit of humility helps make a good competitor, the trainer added.
@BodybyMark films the pushup competition’s male winner during a meet-up in Washington Square Park in New York City on May 12, 2026. (Kelly McGreal/Fox News Digital)
Pushups and planks mark a “good general baseline” for measuring fitness level, according to Langowski. Some other basics include pull-ups, squats and endurance challenges, like running a mile — the kind of basics included in an elementary school fitness assessment.
For those who haven’t yet mastered these basics but want to get in better shape, Langowski shared some advice on how to get started.
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“Get with a trainer or someone who knows how to progress you,” he advised. “A lot of people are like, ‘I can’t do a pushup, so I’m never going to do one.’ That’s not the way.”
Langowski recommends starting with pushups on your knees or against a wall, then gradually progressing to standard pushups by moving onto your toes and lowering yourself fully to the ground before pushing back up.
The trainer recommends starting with pushups on your knees or against a wall, then gradually progressing to standard pushups by moving onto your toes and lowering yourself fully to the ground before pushing back up. (Milan Markovic/iStock)
“You’ll be surprised after you do that for a couple weeks, a couple months, a couple years – you’re going to be able to do a lot,” he said. “Nobody was born being able to do 111 pushups. They put in the work and they started somewhere.”
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The trainer noted that in addition to practicing, it’s just as important to give the body rest and to support muscle growth with proper protein intake and an overall healthy diet.
But perhaps the most crucial step toward getting in shape, according to Langowski, is having the motivation to get started
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“I know that’s easy for me to say – I’ve been in fitness and been relatively fit most of my life,” he said. “And I know a lot of people are sitting on the couch and they either feel sorry for themselves or they’re going through a tough time … You’ve just got to get out there.”
The trainer noted that in addition to practicing, it’s just as important to give the body rest and to support muscle growth with proper protein intake and an overall healthy diet. (iStock)
The trainer suggested starting with a simple walk — even just around the block — with no gym equipment required.
“You don’t need an expensive gym membership to get in good shape,” he said. “Most of the people that I stop on the street, they don’t have a gym membership at all. They do it in their living room.”
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“And that’s where you can do the exercises I mentioned – the squats, the lunges, the pushups,” Langowski went on.
“So, I would encourage people just to start, but also to get some friends or get a trainer, someone to support you and do it safely.”
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Researchers have shed fresh light on how a simple, centuries-old Chinese practice could be almost as effective as some medications in lowering blood pressure.
Baduanjin is a form of exercise that’s been widely practiced in China for at least 800 years. It involves a series of eight slow movements, gentle breathing and meditation — and typically takes only about 10 minutes to complete.
In a clinical trial, researchers studied 216 adults age 40 and older with Stage 1 hypertension. Over the course of a year, participants performed either baduanjin, self-directed exercise or brisk walking.
SIMPLE NIGHTLY HABIT LINKED TO HEALTHIER BLOOD PRESSURE, STUDY SUGGESTS
Researchers found that participants who practiced baduanjin five times per week experienced lower blood pressure within three months.
The results were “comparable to reductions seen with some first-line medications,” they wrote in their report published by the American College of Cardiology.
High blood pressure, if left untreated, can lead to heart attack and stroke. Now, researchers have shed new light on how a simple, centuries-old Chinese practice could be almost as effective as some medications in lowering blood pressure. (andreswd/Getty Images)
Baduanjin also showed “comparable results and safety profile to brisk walking at one year,” the researchers further reported.
“Given its simplicity, safety and ease at which one can maintain long-term adherence, baduanjin can be implemented as an effective, accessible and scalable lifestyle intervention for individuals trying to reduce their [blood pressure],” said the senior author of the study, Jing Li, M.D., Ph.D.
Dr. Matthew Saybolt, medical director of the Hackensack Meridian Jersey Shore University Medical Center’s Structural Heart Disease Program, said he was surprised by an aspect of the study’s results.
ANTI-AGING BENEFITS LINKED TO ONE SURPRISING HEALTH HABIT
“I was biased and expected that higher intensity exercise like brisk walking would have resulted in greater improvement in blood pressure than baduanjin, but the effects were the same,” Saybolt told Fox News Digital. (He was not affiliated with the study.)
Dr. Antony Chu, clinical assistant professor at Brown University’s Warren Alpert School of Medicine, was born and raised in the U.S. to immigrant parents — his mother is from Hong Kong and his father is from Taiwan.
Practitioners of baduanjin, such as those in this class, incorporate slow movements with mindful breathing. (Xinhua News Agency/Getty Images)
Having spent a lot of summers in Asia, Chu told Fox News he experienced “the best of both worlds” concerning Eastern and Western medicine, including exposure to the benefits of baduanjin.
“[These researchers] are taking a lot of things that have been commonplace for many, many centuries or millennia and then just applying mathematical modeling and statistical analysis to sort of give [them] some credibility,” Chu said.
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“Western medicine is reactionary,” Chu also said.
He compared the philosophies to a house on fire: Eastern medicine practitioners are more invested in preventing the fire, whereas Western medicine is more focused on “all those things that it would need to do to try to put that fire out,” he said, sharing his opinion.
A new study shows how people with high blood pressure can reduce it without medicine. (FG Trade/Getty Images)
Left untreated, high blood pressure has dangers that are “too numerous to count,” Saybolt said. The risks include increased risks of stroke, heart attack, atrial fibrillation and congestive heart failure.
Baduanjin, Chu said, is effective at reducing blood pressure, which he likened to “the water pressure and the pipes of your house,” by calming the nervous system and reducing stress.
SIMPLE DAILY HABIT MAY HELP EASE DEPRESSION MORE THAN MEDICATION, RESEARCHERS SAY
“People are totally stressed out,” Chu said. “And stress reduction is huge.”
Saybolt said the study offers hope for people with hypertension — “and that hope doesn’t immediately have to include pharmaceuticals.”
Baduanjin is easily incorporated into most lifestyles and can be done without equipment almost anywhere and at any time. (Getty Images)
Saybolt added that he’s always advocated for lifestyle modifications, including healthy diet and exercise, “as key therapies for treatment of diseases and to improve longevity.”
With the baduanjin data, Saybold said he is now “more optimistic than ever,” as “we have evidence that a very low impact exercise with mindfulness can yield a benefit.”
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Chu said that translating overwhelming medical guidelines is a big part of his job.
“It’s not to just tell somebody, ‘Hey, your blood pressure’s too high, pick a pill,” he said.
Baduanjin has been a preventative health practice the Chinese have been incorporating into their routines for centuries. (Xinhua News Agency/Getty Images)
“Lifestyle changes” can be daunting for many people, he added.
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“They always make it sound like you have to live for seven years in Tibet on a mountain somewhere, and it’s really not that.”
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His simple translation for the baduanjin study is this: “Close the door in your office and just say, ‘I can’t be bothered for 10 minutes,’ and just focus on breathing slowly and moving your arms or legs around.”
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