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Straits Times
3 days ago
- Health
- Straits Times
Discovery of 4 different subtypes of autism paves way for personalised care
Sign up now: Get ST's newsletters delivered to your inbox Each subtype exhibits distinct developmental, medical, behavioural and psychiatric traits, and different patterns of genetic variation. The discovery of four different subtypes of autism is a major step toward understanding the condition's genetic underpinnings and improving care, researchers reported in Nature Genetics. According to researchers, the four autism subtypes can be categorised as: Behavioural Challenges, Mixed Autism Spectrum Disorder with Developmental Delay, Moderate Challenges, and Broadly Affected. Each subtype exhibits distinct developmental, medical, behavioural and psychiatric traits, and importantly, different patterns of genetic variation, the researchers said. The findings are drawn from a study of more than 5,000 children with autism, ages four to 18, and nearly 2,000 of their non-autistic siblings. The study looked for nearly 240 traits in each individual, from social interactions to repetitive behaviours to developmental milestones. While the four subtypes may share some traits – like developmental delays and intellectual disability - the genetic differences suggest distinct mechanisms are behind what appear on the surface to be similar characteristics. The timing of genetic disruptions and the effects on brain development differ with each subtype, researchers found. As a result, some of the genetic impact of autism may occur before birth, while other effects may emerge as children grow, according to the study. 'What we're seeing is not just one biological story of autism, but multiple distinct narratives,' study co-leader Natalie Sauerwald of the Flatiron Institute in New York said in a statement. 'This helps explain why past genetic studies (of autism patients) often fell short,' she said. 'It was like trying to solve a jigsaw puzzle without realising we were actually looking at multiple different puzzles mixed together. We couldn't see the full picture, the genetic patterns, until we first separated individuals into subtypes.' REUTERS
Time of India
5 days ago
- Health
- Time of India
New autism discovery paves way for personalized care
London: The discovery of four different subtypes of autism is a major step toward understanding the condition's genetic underpinnings and improving care, researchers reported in Nature Genetics. According to researchers, the four autism subtypes can be categorized as: Behavioral Challenges, Mixed Autism Spectrum Disorder with Developmental Delay, Moderate Challenges, and Broadly Affected. Each subtype exhibits distinct developmental, medical, behavioral and psychiatric traits, and importantly, different patterns of genetic variation, the researchers said. The findings are drawn from a study of more than 5,000 children with autism , ages 4 to 18, and nearly 2,000 of their nonautistic siblings. The study looked for nearly 240 traits in each individual, from social interactions to repetitive behaviors to developmental milestones. While the four subtypes may share some traits - like developmental delays and intellectual disability - the genetic differences suggest distinct mechanisms are behind what appear on the surface to be similar characteristics. The timing of genetic disruptions and the effects on brain development differ with each subtype, researchers found. As a result, some of the genetic impact of autism may occur before birth, while other effects may emerge as children grow, according to the study. "What we're seeing is not just one biological story of autism, but multiple distinct narratives," study co-leader Natalie Sauerwald of the Flatiron Institute in New York said in a statement. "This helps explain why past genetic studies (of autism patients) often fell short," she said. "It was like trying to solve a jigsaw puzzle without realizing we were actually looking at multiple different puzzles mixed together. We couldn't see the full picture, the genetic patterns, until we first separated individuals into subtypes." WEARABLES MAY IMPROVE CARE OF CHILDREN AFTER SURGERY Young children recovering at home after surgery might someday wear fitness trackers to speed detection of complications, new research suggests. Presently, surgeons must rely on the children themselves, or their parents, to describe new symptoms after hospital discharge. As a result, complications are not always caught at early stages. At the Ann & Robert H. Lurie Children's Hospital of Chicago, 103 children each received a Google Fitbit - a commercially available activity, sleep and heartbeat monitor worn on the wrist like a watch - to wear for three weeks starting immediately after appendectomy. Rather than just monitoring the usual metrics captured by the Fitbit, the researchers modified the devices' algorithms to look for deviations from the circadian rhythms of a child's activity and heart rate patterns. The new algorithms were 91% accurate at flagging early signs of postoperative complications, up to three days before the children's doctors would later diagnose them, the researchers found upon reviewing the data. The devices were 74% accurate at identifying kids who were free of complications, they reported in Science Advances. Eventually the researchers hope to develop a real-time system that analyzes data automatically and sends alerts to children's clinical teams.
The Independent
6 days ago
- Health
- The Independent
Major autism breakthrough could revolutionise treatments and care
Researchers have taken a 'transformative step' towards understanding the biology underlying autism after discovering four subtypes of the genetic condition. Scientists at Princeton University and the Simons Foundation analysed data from 5,000 children in SPARK, an autism cohort study, to group individuals based on their combination of traits. Instead of searching for genetic links to certain traits, researchers considered a range of over 230 traits in each individual, from social interactions to repetitive behaviours to developmental milestones. From this analysis, they were able to identify four subtypes of autism with different patterns of genetic variation. 'What we're seeing is not just one biological story of autism, but multiple distinct narratives," said Natalie Sauerwald, associate research scientist at the Flatiron Institute and co-lead author. 'This helps explain why past genetic studies often fell short—it was like trying to solve a jigsaw puzzle without realizing we were actually looking at multiple different puzzles mixed together. We couldn't see the full picture, the genetic patterns, until we first separated individuals into subtypes.' The four subtypes were Social and Behavioral Challenges, Mixed ASD with Developmental Delay, Moderate Challenges, and Broadly Affected. The first type relates to children reaching developmental milestones at a similar pace to children without autism, but they often experience co-occurring conditions like ADHD, anxiety or depression. The second type showed a delay in reaching developmental milestones but with no signs of co-occurring conditions. The third type, Moderate Challenges, shows core autism-related behaviours but less strongly than other groups, reaching milestones at a similar pace to children without autism and with no co-occurring conditions. The fourth type faces the most extreme and wide-ranging challenges. The first and third types were the most common, with 37 per cent and 34 per cent of participants found to be in each group, respectively, while the second and fourth types were the least common, with 19 per cent and 10 per cent of participants in each group. The findings highlight how genetic differences 'suggest distinct mechanisms behind superficially similar clinical presentations'. For example, children in both the Broadly Affected and Mixed ASD groups share some important traits, such as developmental delay and intellectual disability, but the former group showed the highest proportion of de novo mutations, which are not inherited from either parent, whereas the latter group was more likely to carry rare inherited genetic variants. The findings do not mean there are only four subtypes of autism; they establish the discovery of a data-driven framework showing there are at least four, and that they are meaningful both for clinical work and research at the genome level. For families navigating autism, knowing which subtype of autism their child has can offer new clarity, tailored care, support and community.
Axios
7 days ago
- Health
- Axios
Researchers identify four distinct types of autism
There are four distinct varieties of autism, each linked to unique genetic profiles — a discovery that could offer new insights into the neurodevelopmental condition, according to a new study in Nature Genetics. Why it matters: The findings come as Health Secretary Robert F. Kennedy is pushing federal efforts to identify an " environmental" cause for increased autism incidence by September. Driving the news: A Princeton-led research team examined data from more than 5,000 children in SPARK, an autism cohort study funded by the Simons Foundation. After analyzing more than 230 traits including social interactions and repetitive behaviors, they identified four subtypes: "social and behavioral challenges," "mixed ASD with developmental delay," "moderate challenges" and "broadly affected." They then linked the subtypes to distinct genetic mutations, identifying divergent biological processes in each. For example, children in the "broadly affected" group showed the highest proportion of mutations not inherited from either parent, while the "mixed ASD with developmental delay" group was more likely to carry rare inherited genetic variants. Autism is known to be highly heritable, with many implicated genes. But the researchers said standard genetic testing only explains about 20% of cases. What they're saying:"What we're seeing is not just one biological story of autism, but multiple distinct narratives," said Natalie Sauerwald, associate research scientist at the Flatiron Institute and co-lead author, in a statement.
Yahoo
05-06-2025
- Science
- Yahoo
Where does the universe's gold come from? Giant flares from extreme magnetic stars offer a clue
When you buy through links on our articles, Future and its syndication partners may earn a commission. Scientists have finally gathered direct proof of how the universe forges its heaviest elements, a process that has remained a mystery for over half a century. A team from the Flatiron Institute in New York City calculated that giant flares emitted by magnetars — highly magnetic types of collapsed stars known as neutron stars — could be the long-sought cosmic forge that creates the universe's heavy elements. Just one of these giant flares could produce a planet's worth of gold, platinum, and uranium. "It's pretty incredible to think that some of the heavy elements all around us, like the precious metals in our phones and computers, are produced in these crazy extreme environments," Anirudh Patel, a doctoral candidate at Columbia University and lead author on a study of these elements, said in a statement. "Magnetar giant flares could be the solution to a problem we've had where there are more heavy elements seen in young galaxies than could be created from neutron star collisions alone." Lighter elements such as hydrogen, helium, and lithium were forged in the Big Bang, while heavier ones were formed through nuclear fusion in stellar cores during stars' lives — or in the aftermath of their explosive deaths. But just how neutron-rich elements that are heavier than iron are made has remained an open question. These elements are thought to form through a series of nuclear reactions known as the rapid neutron capture process, or r-process, which was long theorized to occur only under extreme conditions such as those in supernovas or neutron star mergers. In 2017, astronomers confirmed the r-process for the first time during the observed merger of two neutron stars. However, such collisions are so rare that they cannot fully account for the abundance of heavy elements in the universe and neutron star mergers happen too late in the universe's history to explain the earliest gold and other heavy elements. But the extreme neutron star flares that can forge these elements are much older. "The interesting thing about these giant flares is that they can occur really early in galactic history," Patel added. To study these processes, the NYC scientists turned to magnetars, whose magnetic fields are trillions of times stronger than Earth's. These stars occasionally produce "flares" — bursts of energy caused by the sudden release of magnetic energy, typically triggered by the rearrangement or decay of their magnetic fields. The team calculated that a magnetar's giant flare could create the right conditions for r-process elements to form, producing highly unstable radioactive nuclei that decay into stable heavy elements such as gold. Excitingly, the NYC team was able to link their calculations to a mysterious observation made in 2004 of a bright flash of light from the magnetar SGR 1806–20. Initially, the event didn't seem unusual — until researchers realized the flare's total energy was roughly a thousand times greater than that of typical bursts. "The event had kind of been forgotten over the years," said Brian Metzger, a senior research scientist at the CCA and a professor at Columbia University. "But we very quickly realized that our model was a perfect fit for it." "I wasn't thinking about anything else for the next week or two," Patel said in a NASA statement. "It was the only thing on my mind." By combining observations of SGR 1806–20's 2004 flare with their model, Metzger, Patel, and their colleagues estimated that the event likely produced around 2 million billion billion (you read that right) kilograms of heavy elements — roughly the mass of Mars or 27 moons! While such flares could account for about 10% of all heavy elements in our galaxy, the researchers note that the origins of the remaining 90% remain uncertain. "We can't exclude that there could be third or fourth sites out there that we just haven't seen yet," Metzger said. RELATED STORIES: — What happens inside neutron stars, the universe's densest known objects? — James Webb Space Telescope finds neutron star mergers forge gold in the cosmos: 'It was thrilling' — The most powerful explosions in the universe could reveal where gold comes from Eager to push their discovery further, the team plans to hunt for more magnetar flares using NASA's Compton Spectrometer and Imager mission, slated for launch in 2027 — a mission that could reveal even more secrets about the cosmic origins of gold and other heavy elements. "It's a pretty fundamental question in terms of the origin of complex matter in the universe," Patel said. "It's a fun puzzle that hasn't actually been solved." The team's research was published in The Astrophysical Journal Letters.
