
There are FOUR distinct subtypes of autism, say scientists – and discovery could ‘transform treatments'
Each type has its own genetic signature and unique brain activity, helping explain why symptoms vary so widely between people.
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'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.
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The Guardian
3 hours ago
- The Guardian
Trans youth fight for care as California clinics cave to Trump: ‘How can this happen here?'
Eli, a 16-year-old Los Angeles student, is spending his summer juggling an internship at a natural history museum, a research project, a physics class and cheer practice – and getting ready to apply for college. But in recent weeks, he has been forced to handle a more urgent matter: figuring out how he is going to access vital medical treatments targeted by the Trump administration. Last month, Eli was stunned to get an email alerting him that Children's hospital Los Angeles (CHLA) was shutting down its Center for Transyouth Health and Development, which had provided him critical healthcare for three years. The center, which has served transgender youth for three decades, offered Eli counseling and helped him access gender-affirming hormone therapy that he said allowed him to live as himself and flourish in school. CHLA said it was shuttering the center due to the federal government's threats to pull funding, part of the president's efforts to eradicate trans youth healthcare. The move has forced Eli and his mother to scramble for alternatives, taking time out of his busy summer to contact new providers and ensure he doesn't run out of medications. California became the first sanctuary state for trans youth healthcare in 2022 and has long positioned itself as having the strongest protections for LGBTQ+ children. Now, for families like Eli's, it feels like that safety is rapidly disappearing. 'I was always worried for people in conservative states and had a lot of fear for my community as a whole. But I never thought it would directly affect me in California,' Eli said on a recent afternoon, seated with his mom at a Latino LGBTQ+ organization in Boyle Heights. 'I wish people understood they're doing so much more harm than they could possibly imagine – that so many lives will be hurt and lost and so many people torn apart.' Eli is one of nearly 3,000 patients who learned on 12 June they would be abruptly losing their healthcare at CHLA, one of the largest and most prominent centers in the nation to treat trans kids. Then, on 24 June, Stanford Medicine revealed it had also paused gender-affirming surgeries for trans minors and 18-year-olds, with reports that some families had appointments suddenly canceled and leaving other patients fearful it was the beginning of a wider crackdown on their care. Families across California told the Guardian they were exploring options to stockpile hormones, researching how to get care outside the US, growing increasingly fearful that parents could face government investigations or prosecutions, and discussing options to permanently flee the country. CHLA, in a letter to staff, said its decision to close the trans center was 'profoundly difficult', but as California's largest pediatric safety net provider, it could not risk losing federal dollars, which makes up a majority of its funds and would affect hundreds of thousands of patients. Stanford said its disruption in services followed a review of 'directives from the federal government' and was done to 'protect both our providers and patients'. 'This is Los Angeles – how can this be happening here?' said Emily, Eli's mother, who is an educator; the Guardian is identifying them by only their first names to protect their privacy. 'My parents left their Central American countries for a better life – fleeing poverty and civil war, and I cannot believe I'm sitting here thinking: what would be the best country for my family to flee to, as so many immigrant families have done? I never thought I might have to leave the US to protect my son.' Katie, a 16-year-old film student who lives two hours outside Los Angeles, started going to CHLA for gender-affirming care in 2018 when she was nine. For several years, the care involved therapy and check-ins, but no direct medical interventions. Throughout that time, Katie was consistent about her identity as a girl, which CHLA providers supported. 'It was so meaningful and incredible for them to say: 'We see you for who you are, but also you can be who you are,'' recalled Katie, who asked to go by a pseudonym to protect her privacy. 'It was like, I have a future. I'll get to have my life.' In gender-affirming care, young children may first socially transition by using new names, pronouns and clothes. When youth are persistent about their gender, doctors can consider prescribing puberty blockers, which pause puberty, and eventually hormone therapies that allow for medical transition. Trans youth surgeries are rare. The treatment has for years been considered the standard of care in the US, endorsed by major medical groups, including the American Academy of Pediatrics and the American Medical Association, and linked to improved mental health. In recent years, Republicans have passed bans on gender-affirming care in more than 25 states, and Trump has called the treatments 'chemical and surgical mutilation'. There has also been a growing international backlash against the care, including in the UK, which has banned puberty blockers for trans kids. Last month, the US supreme court upheld Tennessee's ban on gender-affirming care for trans youth. Families and civil rights groups have argued the bans are discriminatory, as cisgender children can still receive the same treatments; cis boys with delayed puberty may be prescribed testosterone, for example, while trans boys cannot. Katie, who was eventually prescribed puberty blockers and hormones, broke down crying recounting how the care saved her. 'Sometimes I think: What would my life be if I never got this?' she said. 'And I just don't see myself here. I can't see myself at 16 if I didn't come out and transition … Losing this now would destroy my life.' Sage Sol Pitchenik, a 16-year-old CHLA patient, who is non-binary, said the care helped them overcome debilitating depression caused by their severe gender dysphoria: 'Every day, I couldn't even get up because I just didn't want to see myself, not even my reflection in the window. I was so terrified to look at my body.' They compared the care to the essential treatment their twin brother had earlier received at the same institution: a liver transplant. 'CHLA saved my life, just like they saved my brother,' they said. Eli, who came out as trans while in middle school during pandemic lockdowns, said it was hard to return to school when he felt so uncomfortable in his body. At the start of high school, he avoided making friends: 'I'm really sociable. I love talking to people and joining clubs, but I felt restricted because of how embarrassed I felt and scared of how people would react to me.' The testosterone therapy helped restore his confidence, he said, recounting 'euphoric moments' of his transition: growing facial hair, his voice deepening, staying in the boys' cabin at camp. His friends celebrated each milestone, and his mom said the positive transformation was obvious to his whole family: 'It was like day and night – we are a traditional Latino Catholic family, but they were all loving and accepting, because he is such a happier kid.' CHLA started treating trans children around 1991, and that legacy was part of its appeal for parents. 'It's not just the best place in LA to get care, it's also one of the most important research centers in the country,' said Jesse Thorn, a radio host who has two trans daughters receiving care there. Critics of gender-affirming care have claimed that vulnerable youth are rushed into transitioning without understanding treatment consequences, and that there is not enough research to justify the care. CHLA, Thorn said, countered those claims; families have appointments and build long-term relationships with doctors, psychologists, psychiatrists and social workers. The process is slow and methodical, and the center was engaged in extensive research on the effects of treatments, he said. 'The youth most in danger with the clinic closing are those with parents who aren't sure about this care,' Thorn added. 'That's a lot of parents. They're not hateful bigots. They're overwhelmed and scared, and the institution means a lot.' One LA parent, who requested anonymity to protect her trans son's privacy, said she knew parents who traveled from Idaho to get CHLA's care: 'It really was a beacon of the entire western United States. It is a remarkable loss.' Parents told the Guardian that they were putting their children on waitlists at other clinics and beginning intake processes, but remained worried for families who have public health insurance and fewer resources. Like CHLA, Stanford has long researched and championed trans youth healthcare. The prestigious university's recent pullback on care only affects surgeries, which are much more rare than hormone therapy and puberty blockers. But families whose care has remained intact, for now, say they are on edge. 'There's a constant feeling of not knowing what you need to prepare for,' said one mom of a 17-year-old trans boy, who said her son waited six months to first be seen by Stanford. 'We all understand the pressures the doctors and institutions are under. But ceding the surgeries doesn't mean the pressure will end. It's just showing us our kids are seen as disposable.' Parents and advocates say they fear that other institutions could follow CHLA and Stanford, particularly as the White House significantly escalates attacks in ways that go far beyond funding threats. Trump's focus on California trans youth and gender-affirming care has been relentless. The president has directly attacked a 16-year-old trans track runner, with the US justice department and federal Department of Education fighting, so far unsuccessfully, to force the state's schools to ban trans female athletes and bar trans girls from women's facilities. Trump has threatened to withhold billions of dollars in education funding over a state law meant to prevent schools from forcibly outing LGBTQ+ youth to their parents. Perhaps most troubling for families and providers, the FBI has said it is investigating providers who 'mutilate' children 'under the guise of gender-affirming care', and the DoJ said this week it had issued subpoenas to trans youth clinics and doctors. This has led to growing fears that the US will seek to prosecute and imprison clinicians, similar to efforts by some Republican states to criminally charge abortion providers. Many parents say they worry they could be targeted next. 'There's an outcry of terror,' said another LA mother of a trans child. 'It feels like there is a bloodlust to jail any doctor who has ever helped an LGBTQ+ kid. There's this realization that the world is constricting around us, and that any moment they could be coming for us.' Some families hope that California will fight back, but are wary of how committed the governor, Gavin Newsom, really is. Newsom faced widespread backlash in March when he hosted a podcast with a conservative activist and said he agreed with the suggestion that trans girls participating in sports was 'deeply unfair'. California's department of justice, meanwhile, has repeatedly emphasized that when institutions withhold gender-affirming care for trans youth, they are violating the state's anti-discrimination laws. A spokesperson for Rob Bonta, the state's attorney general, said Trump was 'seeking to scare doctors and hospitals from providing nondiscriminatory healthcare': 'The bottom line is: this care remains legal in California … While we are concerned with the recent decisions by CHLA, right now we are focused on getting to the source of this problem – and that's the Trump administration's unlawful and harmful threats to providers.' A CHLA spokesperson shared a copy of its staff letter, noting that Trump's threats to its funding came from at least five federal departments, and saying it was working with patients to identify alternative care and would 'explore' reassigning affected employees to other roles. A Stanford spokesperson did not answer questions about how many patients were affected by its recent changes, but said in an email it was 'committed to providing high quality, thorough and compassionate medical services for every member of our community'. Kush Desai, a White House spokesperson, said in an email that Trump has a 'resounding mandate' to end 'unproven, irreversible child mutilation procedures', adding: 'The administration is delivering.' Katie's mother said she expected the state's leaders to do more: 'The quiet from the governor and others on trans rights is very unsettling. My husband and I grew up in California, went to public schools here, and always thought we'd be safe here and that the state would hold the line. It's hard to tell right now if that's true.' Izzy Gardon, Newsom's spokesperson, defended the governor, saying in an email that his 'record supporting the trans community is unmatched'. 'Everyone wants to blame Gavin Newsom for everything. But instead of indulging in Newsom-derangement syndrome, maybe folks should look to Washington.' Affected youth are increasingly speaking out. Since the news broke, protesters have organized weekly demonstrations in front of CHLA to call for the healthcare to be restored. At one recent evening rally, organized by the LA LGBT Center, families and supporters marched and chanted outside the busy hospital on Sunset Boulevard, holding signs saying 'Trans joy is resistance' and 'blood on your hands', and at one point shouting: 'Down with erasure, down with hate, shame on CHLA!' 'We can't be quiet any more. We've been polite for too long and taken so much bullshit from people who hate us,' said Sage, who spoke at an earlier rally. 'I didn't stand up just for myself or the people affected by this, but also for the trans people who came before us who still have incorrect names on their graves, who don't have a voice.' Sage, who is now in a creative writing program, said they hoped to become a journalist. Katie, who aspires to be a television writer in LA, said she could not be silent as anti-trans advocates force families to consider fleeing: 'How dare you try to drive me out of the place where I was born, where my best friends are, where the job I want to do is, where I've experienced my whole life? This is my home.' Eli said he didn't feel as if he was being an activist. He was simply asking for the 'bare minimum': to be left alone and able to access basic healthcare. 'Trans services like hormone therapy truly saves lives,' he said. 'We just want people to be able to live their lives. I'm just asking for what is commonsense.'


The Independent
5 hours ago
- The Independent
Northern Arizona resident dies from plague
A resident of northern Arizona has died from pneumonic plague, health officials said Friday. Plague is rare to humans, with on average about seven cases reported annually in the U.S., most of them in the western states, according to federal health officials. The death in Coconino County, which includes Flagstaff, was the first recorded death from pneumonic plague since 2007, local officials said. Further details including the identify of the victim were not released. Plague is a bacterial infection known for killing tens of millions in 14th century Europe. Today, it's easily treated with antibiotics. The bubonic plague is the most common form of the bacterial infection, which spreads naturally among rodents like prairie dogs and rats. There are two other forms: septicemic plague that spreads through the whole body, and pneumonic plague that infects the lungs. Pneumonic plague is the most deadly and easiest to spread. The bacteria is transmitted through the bites of infected fleas that can spread it between rodents, pets and humans. People can also get plague through touching infected bodily fluids. Health experts recommend taking extra care when handling dead or sick animals. Most cases happen in rural areas of northern New Mexico, northern Arizona, southern Colorado, California, southern Oregon and far western Nevada, according to the Centers for Disease Control and Prevention.


Reuters
5 hours ago
- Reuters
US FDA declines to approve Ultragenyx's gene therapy for rare genetic disorder
July 11 (Reuters) - The U.S. Food and Drug Administration has declined to approve Ultragenyx Pharmaceutical's (RARE.O), opens new tab experimental gene therapy to treat a rare inherited disorder, citing manufacturing concerns, the company said on Friday. Shares of the California-based biopharma company fell 5.4% in extended trading. The FDA in its "complete response letter" sought additional information related to the company's production processes and facilities. The regulator's decision comes more than a month ahead of the previously announced action date of August 18. The agency's observations, related to facilities and processes, are addressable and not directly related to the therapy's quality, Ultragenyx said, adding that many of the issues have already been addressed. "It looks like this is a speed bump to approval, rather than a roadblock," Leerink Partners analyst Joseph Schwartz said in a client note. The therapy, UX111, was developed to treat a common type of Sanfilippo syndrome — a group of genetic conditions that begin in early childhood causing severe brain damage and early death. The treatment involves managing symptoms as there are currently no approved disease-modifying medicines. Ultragenyx said the FDA did not cite any review issues related to the clinical data submitted as part of the marketing application. The company's application for UX111 was based on trial data that showed the gene therapy significantly reduced toxic buildup in the brain and improved cognitive and communication skills in children with Sanfilippo syndrome type A. It plans to resubmit updated clinical data from current patients after resolving the FDA's concerns. A new review could take up to six months once the revised application is filed. Ultragenyx acquired the global rights of the therapy from Abeona Therapeutics (ABEO.O), opens new tab through an exclusive license agreement on 2022.