Latest news with #SimonsFoundation
Daily Mail
2 hours ago
- Health
- Daily Mail
Groundbreaking discovery that'll see autism diagnoses skyrocket... with one group of Americans hit the hardest
Groundbreaking new autism research suggests that already-rising diagnoses could jump more significantly in the coming years if a new framework for understanding the condition comes into play. The latest research out of Princeton University and the Simons Foundation uncovered four unique subtypes of autism, each with its own genetic 'fingerprint' - finally explaining why some children show signs early while others aren't diagnosed until school age. Your browser does not support iframes. Your browser does not support iframes. Your browser does not support iframes.
The Independent
2 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.
The Sun
3 days ago
- Health
- The Sun
There are FOUR distinct subtypes of autism, say scientists – and discovery could ‘transform treatments'
THERE could be as many as four different types of autism, Princeton scientists have discovered. Each type has its own genetic signature and unique brain activity, helping explain why symptoms vary so widely between people. 2 'Understanding the genetics of autism is essential for enabling earlier and more accurate diagnosis, and guiding personalised care,' senior study author, Olga Troyanskaya, said. Researchers at the US University and the Simons Foundation analysed data from more than 5,000 children with autism. Using advanced computer modelling, they grouped the children based on over 230 traits. These traits ranged from social skills and repetitive behaviours to key developmental milestones like walking and talking. This approach revealed four distinct autism subtypes, all with different characteristics. The team linked each autism subtype to specific genetic factors by analysing the children's DNA. They looked at inherited mutations, random ones not found in the parents, and when key genes switch on during brain development. They found each subtype is shaped by different genetic glitches that affect the brain at different stages, sometimes even after birth. It's a major shift in how we understand autism. Experts used to think its genetic roots formed only before birth, but the study shows they can also appear in early childhood. Simple 10-question test that can help determine if you have autism The four autism subtypes are: 1. Social and behavioral challenges This group has classic autism traits such as social difficulties and repetitive behaviours, with developmental milestones generally reached on time. Many also experience anxiety disorders, attention deficit hyperactivity disorder (ADHD), or obsessive-compulsive disorder (OCD). 2. Mixed autism spectrum disorder developmental delay Children with this form of autism often reach milestones like walking and talking later than usual, but rarely have mental health issues. They're also more likely to carry rare genetic mutations passed down from their parents. 3. Moderate challenges This group shows milder autism traits, hits developmental milestones on time, and has fewer additional conditions, meaning they may need less ongoing support or treatment. 4. Broadly affected This is the smallest but most severely affected group, showing major developmental delays, communication and social challenges, repetitive behaviours, and mood disorders. They're also more likely to carry new, non-inherited gene mutations. The key characteristics of autism - and why they go unnoticed By Alice Fuller, Health Features Editor MODEL Christine McGuinness was a 'recluse' for eight years and only left the house at 3am. Springwatch presenter Chris Packham says it makes him a 'task-centric workaholic who sees problems in everything he does'. And recently, Bella Ramsey revealed they were diagnosed after struggling to wear thermals on the set of The Last of Us. But what exactly is autism and why does it seem so different in everyone? Leanne Cooper-Brown, neurodevelopmental lead at Clinical Partners, tells Sun Health: 'Autism is considered a spectrum, so not all people share the same traits. 'Whereas we used to think of autism as a linear line, we have come to realise that terms such as 'high' and 'low' functioning or definitions of 'mild', 'moderate' or 'severe' aren't helpful and can be misleading. 'Nowadays, we think of autism in terms of the strengths and needs of the individual, which can change over time depending on their environment and support network.' About 700,000 people in the UK are thought to have autism - that's one in 100. But research by University College London suggests that number could be twice as high, as many people remain undiagnosed. Cases are on the rise though. Figures released last year showed a 175 per cent increase from 2011 to 2022. Dr Selina Warlow, clinical psychologist and owner of The Nook Neurodevelopmental Clinic, says: 'Conversation around neurodiversity is becoming normalised, and that's so positive to see. But more awareness is needed. 'Receiving a diagnosis can open access to expert resources that support autistic people to thrive in society.' Autism has long been associated with social difficulties, like problems maintaining conversations and forming relationships. But research published in the journal Cell Press suggested that repetitive behaviours - like rocking or finger-flicking - and special interests - whether it's TV shows or specific animals - are more indicative of an autism diagnosis. Generally though, experts say the core characteristics include… Sensitivity - autistic people can be much more or less sensitive to sights, sounds, textures, tastes and smells. For example, they find bright lights or crowded spaces overwhelming, Leanne says. They may also stand too close to others or need to move their whole body to look at something. Stimming - to manage this sensory overload, some people use repetitive movements or sounds. 'This is called stimming, and includes rocking, tapping and hand-flapping,' Dr Warlow says. 'Though it's something everyone does to some extent, those with autism are likely to engage with it as a form of self-regulation.' Masking - this is a strategy used by some autistic people, consciously or not, to match neurotypical people, Dr Warlow says. 'It's a way of hiding your true characteristics, and could involve copying facial expressions, planning conversations in advance, or holding in 'stimming' - swapping hand clapping with playing with a pen, for example,' she adds. Burnout - this is a state of physical, mental and emotional exhaustion and is a common feature in autism. 'Being extremely tired, both mentally and physically, can be associated with the act of masking for a long period of time, or sensory or social overload,' Dr Warlow says. 'Symptoms of autistic burnout include social withdrawal, reduced performance and increased sensitivity.' Social struggles - socialising can be confusing or tiring for autistic people. They often find it hard to understand what others are thinking or feeling, making it challenging to make friends. Leanne says: 'In adults, autism may present as difficulties with interpreting social cues such as understanding body language or sarcasm, struggling to express emotions or preferring to be alone. This can impact relationships and work.' Routine - many of us have a fairly regular daily schedule. But for autistic people, this becomes a 'very strong preference for routine', Leanne says. This could be needing a daily timetable to know what is going to happen and when, or having rigid preferences about foods or clothing. Literal thinking - some autistic people have a literal view of language - like believing it's actually 'raining cats and dogs' or that someone really wants you to 'break a leg'. Dr Warlow says: 'This can result in confusion with figures of speech, irony or indirect requests. 'For instance, being told to 'pull your socks up' might be understood literally, not as a motivational phrase.' Hyperfocus - often associated with ADHD, hyperfocusing is also common in autistic people. 'It's where you're able to focus intensely on an activity and become absorbed to the point of forgetting about time,' Dr Warlow says. 'This is useful in work or hobbies but can result in neglect of other aspects of life, such as food or rest.' Special interests - we all have hobbies and interests, but for autistic people, these are so compelling they often want to spend all their time learning about, thinking about or doing them. 'Special interests could include anything from dinosaurs to superheroes, and gardening to music,' Dr Warlow says. 'These usually begin in childhood, but can also form as an adult. 'Chris Packham is an example of an autistic person who turned his childhood special interest in animals into a successful career, becoming one of the UK's best-loved natural world TV presenters. 'These findings are powerful because the classes represent different clinical presentations and outcomes," PhD student and co-lead author Aviya Litman said: "And critically, we were able to connect them to distinct underlying biology," they added. Co-lead author Natalie Sauerwald said: 'What we're seeing is not just one biological story of autism, but multiple distinct narratives. "This helps explain why past genetic studies often fell short. "It was like trying to solve a jigsaw puzzle without realising we were actually looking at multiple different puzzles mixed together.' About 700,000 people in the UK are thought to have autism - a lifelong condition that affects how people experience and interact with the world. Diagnoses are becoming more common each year, partly due to increased awareness from sites like TikTok and better screening. The latest NHS England figures, covering the period ending March 2025, show the number of patients waiting at least three months for an initial specialist appointment has jumped by more than a quarter since last year. That figure has also tripled since 2021. In total, nearly 124,000 under-18s are on the waiting list for over three months - almost 30,000 more than the year before. NHS guidelines say patients should be seen within 13 weeks. But nine in 10 wait much longer.
New York Post
3 days ago
- Health
- New York Post
The 4 new subtypes of autism explained
Autism rates are on the rise, with diagnoses in the US jumping 175% between 2011 and 2022. While that's due to a combination of factors — including changing guidelines for diagnosis and more young adults seeking answers about themselves — it's also ramped up the need for better understanding in how to care for those on the spectrum. Now groundbreaking new research from Princeton University and the Simons Foundation has pinpointed four distinct subtypes of autism, which are characterized not just by behavior but biological differences. 'Understanding the genetics of autism is essential for revealing the biological mechanisms that contribute to the condition, enabling earlier and more accurate diagnosis, and guiding personalized care,' said senior study author Olga Troyanskaya, director of Princeton Precision Health. She and her fellow researchers used data from over 5,000 children and published their findings in Nature Genetics. The four new subtypes are: Social and Behavioral Challenges People in this group show 'core autism traits, including social challenges and repetitive behaviors, but generally reach developmental milestones at a pace similar to children without autism,' according to Princeton University. They're also likely to have other psychiatric conditions, including ADHD, anxiety, depression or obsessive-compulsive disorder. This is the largest group, making up 37% of study participants. Mixed ASD with Developmental Delay This group 'tends to reach developmental milestones, such as walking and talking, later than children without autism, but usually does not show signs of anxiety, depression or disruptive behaviors.' The reason they're 'mixed' is because of differences with repetitive behaviors and social challenges. This group made up 19% of the study. Moderate Challenges These people also show core autism-related behaviors, 'but less strongly than those in the other groups, and usually reach developmental milestones on a similar track to those without autism.' They also don't typically have psychiatric issues. This group made up 34% of participants. 3 Sergey Nivens – Broadly Affected The smallest group — comprising just 10% of study participants — is also the most severe. They face 'more extreme and wide-ranging challenges, including developmental delays, social and communication difficulties, repetitive behaviors and co-occurring psychiatric conditions like anxiety, depression and mood dysregulation.' How did they find these subtypes — and what they learn about their genetics? Kids in the study were evaluated on 230 traits, then split into groups based on the most common combinations. Once the groups were defined, the scientists could link them to 'distinct underlying biology,' according to Aviya Litman, a Ph.D. student at Princeton and co-lead author. But the way autism unfolds within these groups — and how biology comes into play — differs. All of these subtypes have genetic disruptions that impact brain development. But when those genetic disruptions activate is different from subtype to subtype. Previously, experts believed that it mostly happened before birth — but for people in the Social and Behavioral Challenges group, some gene mutations became active later on. That doesn't mean that that the genes mutated later on due to external factors, but that the expression of that mutated gene doesn't happen until further into childhood. What does this mean for treatment and care? Knowing the subtype your child falls into can also help you choose better care for them. 'It could tell families, when their children with autism are still young, something more about what symptoms they might — or might not — experience, what to look out for over the course of a lifespan, which treatments to pursue, and how to plan for their future,' said study co-author Jennifer Foss-Feig, a clinical psychologist at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai.
Daily Mail
3 days ago
- Health
- Daily Mail
Major study on autism uncovers four distinct subtypes, 'transforming' diagnosis and treatment
Researchers have uncovered four distinct types of autism, each with its own genetic fingerprint, which could unlock the mystery of what causes the condition and how it can be treated. A team at Princeton University and the Simons Foundation analyzed 5,000 children in SPARK, the most extensive autism research study in the country. They recorded their traits and separated the children into groups based on their behaviors. They examined more than 230 behavioral and developmental traits—from social interactions to repetitive behaviors—and created four subtypes of autism: Social and Behavioral Challenges; Mixed Autism Spectrum Disorder (ASD) with Developmental Delay; Moderate Challenges; and Broadly Affected. Then, they compared the subtypes with each child's genetic profile, comparing patterns between the categories. Researchers looked for mutations that were inherited from parents, damaged mutations that were not inherited, and gene activity patterns. Scientists once believed autism's genetic roots were prenatal, but the study found DNA glitches can determine subtypes before or after a child is born, and autism subtypes differ in the timing of genetic switches, which guide distinct stages of development. Aviya Litman, a PhD student at Princeton University and co-lead author, said: 'These findings are powerful because the classes represent different clinical presentations and outcomes, and critically, we were able to connect them to distinct underlying biology.' Researchers have determined that common gene variants account for only around 20 percent of ASD diagnoses, leaving the remaining 80 percent to a complex interplay of environmental factors, modifications to DNA that regulate gene expression, and gene-environment interactions that scientists still don't fully understand. Their findings unlock opportunities for parents to better understand their children and guide them through milestones with the proper treatment, such as occupational therapy. They could also usher in new targeted gene therapies for people severely disabled by autism. To analyze data from the 5,000 children, researchers used a computational model to group children together based on a combination of over 230 different traits an individual could have, such as repetitive behaviors, sound sensitivity, gross motor delays, and aversion to certain textures. This resulted in the creation of four subtypes, which the researchers linked to unique genetic profiles and developmental trajectories. Natalie Sauerwald, associate research scientist at the Flatiron Institute and co-lead author, said: 'What we're seeing is not just one biological story of autism, but multiple distinct narratives. '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.' Children in the Social and Behavioral Challenges group (37 percent of the children in the study) display classic autism traits, including social difficulties and repetitive behaviors, yet still meet developmental milestones on time. Their high rate of co-occurring mental health conditions sets this subtype apart. ADHD, anxiety, depression, or OCD frequently appear alongside their ASD diagnosis. These unseen challenges often dominate children's needs. The fact that they're still able to hit developmental milestones on schedule may explain why so many children with this subtype are not diagnosed until they begin to have more social demands in school age. Those in the Mixed ASD with Developmental Delay group (19 percent) tend to lag behind their neurotypical peers in hitting key milestones, including first words and walking. Still, they do not show signs of anxiety, depression, or disruptive behavior that are more common in other subtypes. The 'mixed' label reflects their variability in core autism traits—some have severe social challenges but mild repetitive behaviors, while others show the opposite pattern. Only the Mixed ASD with Developmental Delay group was more likely to carry rare inherited genetic variants. Children with the Moderate Challenges subtype (34 percent) represent those with the mildest form of the disorder and exhibit more subdued core traits of autism while hitting milestones generally on time. Importantly, these children lack the psychological difficulties that children in the first subtype exhibit, which suggests that they may need less long-term care, such as medication and therapy. The Broadly Affected group is the most severely impacted by the disorder and represents 10 percent of the children in the study. They face a myriad of challenges, including developmental delays, social and communication difficulties, repetitive behaviors, and co-occurring psychiatric conditions like anxiety, depression, and mood dysregulation. They're also more likely to carry damaging gene mutations that they did not inherit from their parents. Other types had different genetic underpinnings. 'These findings point to specific hypotheses linking various pathways to different presentations of autism,' Dr Litman said, referring to differences in biology between children with different autism subtypes. An estimated 2.3 million children and 7million adults in the US have ASD. Diagnoses are becoming more common by the year. According to the CDC, around one in 150 children were diagnosed with ASD in 2000. By 2020, that figure ballooned to one in 36. A 2024 analysis of electronic health records for more than 12.2 million Americans found that diagnoses increased by approximately 175 percent over 11 years. Public health experts, pediatricians, and child psychologists posit that the spike in diagnoses is due to broader acceptance of autistic and neurodivergent people and better screening in children. Health and Human Services Secretary Robert F Kennedy Jr has made identifying the cause of autism and reasons for its increased prevalence a hallmark initiative. He cites chemicals, diet and environmental toxins as possible causes of the increase. Senior study author Olga Troyanskaya, director of the Princeton Precision Health and Lewis-Sigler Institute for Integrative Genomics, said: 'Understanding the genetics of autism is essential for revealing the biological mechanisms that contribute to the condition, enabling earlier and more accurate diagnosis, and guiding personalized care.'
