Latest news with #OlgaTroyanskaya
Medscape
3 days ago
- Health
- Medscape
Four Distinct Autism Subtypes Identified
By leveraging a person-centered computational approach to phenotypic data from more than 5000 children with autism spectrum disorder (ASD), researchers have identified four biologically and clinically distinct subtypes of autism and their underlying genetic signals. These four subtypes are: Social and Behavioral Challenges, Mixed ASD with Developmental Delay, Moderate Challenges, and Broadly Affected. 'It's important for families to have groups where they can really understand how they belong and what kind of prognosis their child might have,' study investigator Olga Troyanskaya, PhD, professor of computer science, Princeton University, Princeton, New Jersey, and deputy director for genomics, Center for Computational Biology, Simons Foundation Flatiron Institute, New York City, told Medscape Medical News . 'There's very different clinical presentations depending on these subtypes and if you know which subtype a child belongs to you — it's not yet full precision medicine — but you'd be able to make nontrivial predictions about the prognosis for these children,' she said. The study was published on July 9 in Nature Genetics . Unique Research Approach Patients with ASD exhibit overlapping social and neurocognitive impairment and considerable genetic and phenotypic heterogeneity. However, a coherent mapping of genetic variation to phenotypes is lacking, despite the rising number of ASD diagnoses and hundreds of ASD-associated genes identified in recent years. Prior studies have either focused purely on clinical or genetic features in relatively small groups or tried to combine them in a trait-centered approach looking for genetic links to single traits, colead author Natalie Sauerwald, PhD, associate research scientist, Flatiron Institute, said in an interview. What's different here is the scale and use of a person-centered approach to identify 239 item-level and composite phenotype features in 5392 individuals in the nationwide SPARK cohort. Each feature was then assigned to one of seven phenotype categories defined in the literature (limited social communication, restricted and/or repetitive behavior, attention deficit, disruptive behavior, anxiety and/or mood symptoms, developmental delay, and self-injury) and a general finite mixture model was used to identify and validate the four latent classes. 'As far as we know, this is the first work that was able to combine this person-centered phenotype-first approach with some really surprising genetic findings that align extremely well with these phenotypic results,' Sauerwald said. Clear Clinical Potential The four subtypes differ not only in severity of autism symptoms but also in the degree to which co-occurring cognitive, behavioral, and psychiatric concerns factor into their presentation, the researchers noted. Individuals in the Social and Behavioral Challenges class had greater difficulties across core autism categories of social communication and restricted and/or repetitive behaviors than other autistic children. Developmental delays were not reported but scores were higher for disruptive behavior, attention deficit, and anxiety. This was the largest group with 1976 persons, accounting for 37% of study participants. The Mixed ASD with Developmental Delays class was highly enriched in language delays, intellectual disability, and motor disorders compared with nonautistic siblings and children in other classes. The 1102 individuals in this group had some features enriched and some depleted with respect to repetitive behaviors and social challenges but had lower levels of attention-deficit/hyperactivity disorder (ADHD), anxiety, and depression. About 19% of participants fell into this class. Individuals in the Moderate Challenges class showed core autism-related behaviors but less strongly than those in other groups and usually reached developmental milestones at the same pace as nonautistic siblings. This group included 1860 persons or about 34% of participants. The Broadly Affected class showed significant levels of cognitive impairment, lower language ability, and much earlier ages at diagnosis than the two classes without substantial developmental delays. The group also had significant enrichment in almost all measured co-occurring conditions like ADHD, anxiety, and depression. This was the smallest group with just 554 individuals or about 10% of participants. 'Obviously, this is early and not ready to be rolled out in the clinic this second, but there is clear, immediate clinical potential for these subtypes and then being able to have support services tailored to that group,' Troyanskaya said. Genetic and Biologic Underpinnings Children in all four classes had a significant burden of common and rare genetic variants, but researchers found differing signals that defined each autism class. The Broadly Affected class was more likely to have high-impact de novo variants, whereas only the Mixed ASD with Developmental Delays group had a combination of high-impact de novo and rare inherited variants, suggesting a stronger inherited component for children in this group. The analysis of biological processes affected by high confidence de novo loss of function or damaging missense variations in each class revealed little overlap in the top enriched biological processes and no overlap in top molecular functions between all four classes. 'All of the biological connections were found deep within the framework of what the research has found as far as autism biology,' Troyanskaya said. 'But it's not as much of a spectrum as there is a pie of that biology that is divided between the four subgroups. It's like we are studying four different subtypes as opposed to one increasing severity condition.' The four subtypes also differed in terms of the genetic variants' effects on brain development. 'One very interesting finding regarding the Social and Behavior group that tends to display both high rates of social interaction deficits as well as high anxiety, depression, and ADHD, is that when we looked at which genes were impacted by these mutations, we found for this one group in particular the genes that are impacted are mostly activated after birth,' Aviya Litman, PhD, co-lead author and a PhD student at Princeton, said in an interview. Notably, children in this subtype rarely have developmental delays and are diagnosed the latest of all the subtypes. The finding that their genetic mutations affect them starting in infancy or childhood rather than during fetal stages closely aligns with both their clinical presentations and the phenotypes that were observed. 'If I had to pick a single finding other than the fact that these subtypes are so robust and different biologically, the single most surprising finding to me is this,' observed Troyanskaya. Validation and the Steps Ahead The four subtypes were replicated in 861 individuals in the Simon Simplex Collection (SCC), an autism cohort deeply phenotyped by trained clinicians whereas in SPARK the data were self-reported, Troyanskaya noted. The fraction of children with more severe disorders was also different between cohorts. Still, 'we were able to robustly verify this model in an independent SCC cohort,' she said. The researchers plan to look at differences by sex and race/ethnicity but said it also will be crucial to expand the cohort size and the quality and breadth of the phenotyping to capture the full diversity of the autism population more completely. While the current work identified four subtypes, 'there could be more,' Troyanskaya said. 'As we get a bigger cohort, there may be a finer gradation.' A lot of other autism papers claim their findings have clinical implications, but she said this research is further downstream and doesn't face technical challenges because it's phenotype-based classification and these phenotypes are already measured in individuals with autism. 'So you could, in principle, do this but of course a huge part of this is whether the community is looking to adopt it, the community is testing it clinically and understanding what it means for the next stages,' Troyanskaya said. Sauerwald added that it would be very straightforward for the team to build a tool that could predict a patient's autism subtype based on data entered by a clinician. 'That's something that could happen very quickly. Again, the technical component will not be the barrier but the widespread adoption and clinical people taking this forward.'
The Sun
09-07-2025
- 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.
Scottish Sun
09-07-2025
- Health
- Scottish Sun
There are FOUR distinct subtypes of autism, say scientists – and discovery could ‘transform treatments'
Plus, the key characteristics of autism displayed by some celebs - and why they go unnoticed HEALTH CHECK 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. Advertisement 2 Scientists have discovered four different autsim subtypes Credit: Alamy 2 The findings turn long-held beliefs about the condition on their head Credit: Getty '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. Advertisement 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. Advertisement 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 Advertisement 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. Advertisement 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 Advertisement 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. - 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.' - 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. - 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.' - 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.' - 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. - 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.' - 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.' - 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. Advertisement 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. Advertisement 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
09-07-2025
- 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.
