Latest news with #brainDevelopment
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.
Health Line
29-05-2025
- Health
- Health Line
What Is Choline? An Essential Nutrient With Many Benefits
Choline is a vital nutrient, but many people do not consume the recommended intake. Beef and chicken liver, salmon, and eggs are among the richest dietary sources of choline. Choline was only acknowledged as a required nutrient by the Institute of Medicine in 1998. Although your body makes some choline naturally, you need to get it from your diet to avoid a deficiency. Many people are not meeting the recommended intake for this nutrient. This article provides everything you need to know about choline, including what it is and why you need it. What is choline? Choline is an essential nutrient. This means it's required for normal bodily function and human health. Though your liver can make small amounts, you must obtain the majority through your diet. Choline is an organic, water-soluble compound. It is neither a vitamin nor a mineral. However, it is often grouped with the vitamin B complex due to its similarities. In fact, this nutrient affects a number of vital bodily functions. It impacts liver function, healthy brain development, muscle movement, your nervous system and metabolism. Therefore, adequate amounts are needed for optimal health. Serves many functions in your body Choline plays an important part in many processes in your body, including: Cell structure: It is needed to make fats that support the structural integrity of cell membranes. Cell messaging: It is involved in the production of compounds that act as cell messengers. Fat transport and metabolism: It is essential for making a substance required for removing cholesterol from your liver. Inadequate choline may result in fat and cholesterol buildup in your liver. DNA synthesis: Choline and other vitamins, such as B12 and folate, help with a process that's important for DNA synthesis. A healthy nervous system: This nutrient is required to make acetylcholine, an important neurotransmitter. It's involved in memory, muscle movement, regulating heartbeat and other basic functions. How much do you need? Due to a lack of available evidence, a Reference Daily Allowance (RDA) for choline has not been determined. However, the Institute of Medicine has set a value for adequate intake (AI). This value is intended to be sufficient for most healthy people, helping them avoid negative consequences of deficiency, such as liver damage. Nevertheless, requirements differ according to age, gender, and genetic makeup. In addition, determining choline intake is difficult because its presence in various foods is relatively unknown. Here are the recommended AI values of choline for different age groups: 0–6 months: 125 mg per day 7–12 months: 150 mg per day 1–3 years: 200 mg per day 4–8 years: 250 mg per day 9–13 years: 375 mg per day 14–18 years: 400 mg per day for females and 550 mg per day for males Adult females: 425 mg per day Adult males: 550 mg per day People breastfeeding: 550 mg per day Pregnant people: 430 mg per day Deficiency is unhealthy but rare Choline deficiency can cause harm, especially for your liver. One small, older study in 57 adults found that 77% of men, 80% of postmenopausal women and 44% of premenopausal women developed fatty liver and/or muscle damage after going on a choline-deficient diet. Another older study noted that when postmenopausal women consumed a diet deficient in choline, 73% developed liver or muscle dysfunction. However, these symptoms disappeared once they began getting enough choline. Choline is especially important during pregnancy, as a low intake may raise the risk of neural tube defects in unborn babies. Another older study determined that a higher dietary intake around the time of conception was associated with a lower risk of neural tube defects. In addition, low choline intake may raise your risk of other pregnancy complications. These include preeclampsia, premature birth and low birth weight. Top dietary sources Choline can be obtained from a variety of foods and supplements. Food sources Dietary sources are generally in the form of phosphatidylcholine from lecithin, a type of fat-like molecule found in lecithin. The richest dietary sources of choline include: Food Portion Amount of choline contained (mg) Pan-fried beef liver 1 slice (3 ounces or 85 grams) 356 Hardboiled eggs 1 large egg 147 Lean braised beef top round 3 ounces or 85 grams 117 Roasted soybeans Half a cup 107 Roasted chicken breast 3 ounces or 85 grams 72 Cooked fresh cod 3 ounces or 85 grams 71 Baked red potatoes with skin 1 large potato 57 Canned kidney beans Half a cup 45 Additives and supplements Soy lecithin is a widely used food additive that contains choline. Therefore, it is likely that extra choline is consumed through the diet via food additives. Some additive and supplemental forms of chlorine include: lecithin phosphatidylcholine choline chloride CDP-choline alpha-GPC betaine Some sources claim that choline in nutritional supplements may reduce body fat, but there is little to no evidence supporting these claims. Impact on heart health Elevated levels of homocysteine in your blood have been linked to an increased risk of heart disease and strokes, as well as lower blood pressure. However, evidence is mixed, and more studies are needed to confirm any positive link. Choline helps convert the amino acid homocysteine to methionine. Therefore, a deficiency of choline can result in an accumulation of homocysteine in your blood. Impact on your brain Choline is required to produce acetylcholine, a neurotransmitter that plays an important role in regulating memory, mood and intelligence. It's also needed for the process that synthesizes DNA, which is important for brain function and development. Therefore, choline intake is associated with improvements in brain function and cognitive performance. Observational studies link higher choline intake to better brain function and a lower risk of dementia and Alzheimer's disease. However, further studies on this subject are needed to better understand whether choline supplementation would affect cognitive function. Too much can be harmful Consuming too much choline has been associated with unpleasant and potentially harmful side effects. These include drops in blood pressure, sweating, fishy body odor, diarrhea, nausea and vomiting. The daily upper limit for adults is 3,500 mg per day. This is the highest level of intake that is unlikely to cause harm. It is very unlikely that someone could ingest this amount from food alone. It would be almost impossible to reach this level without taking supplements in large doses.
The Independent
28-05-2025
- General
- The Independent
We still don't know how tickling works. More serious research is needed, say scientists
Scientists have developed a new method to investigate the long-standing mystery of how tickling works, an advance that could have big implications for our understanding of brain development. Humans have attempted to understand why we are so sensitive to tickling for over 2,000 years since the time of Socrates, but exactly how the brain processes such stimuli has remained a mystery. 'Socrates, Aristotle, Bacon, Galileo, Descartes, and Darwin theorised about tickling, but after two millennia of intense philosophical interest, experimentation remains scarce,' the researchers from Radboud University in the Netherlands said their new study published in the journal Science Advances. Tickling, or gargalesis as it is scientifically known, involves a complex interplay of physical, social, neurological and developmental aspects rooted in evolution, the researchers argue. People with autism spectrum disorder, for example, have been found to perceive touches as more ticklish than others. Investigating this difference further could reveal clues to brain development in people with autism, the scientists say, but tickling in general remains 'relatively under-researched'. Earlier studies have shown that apes such as bonobos and gorillas, as well as rats, respond to ticklish touches, indicating that the process has an evolutionary significance. But understanding how tickling emerged has been made more difficult by the fact that the process is not clearly defined within the scientific community, says neuroscientist Konstantina Kilteni, lead author of the new study. For instance, there is a difference between when one tickles another person on the armpits with hands compared to tickling their back lightly with a feather. While scientists know more about the second feather-based stimulation, the first sensation is understudied, they say. Tickling is also one of the earliest triggers for laughter in human development, but it is unclear whether we laugh because we enjoy it. 'No theory satisfactorily explains why touch on some body areas feels more ticklish than on others or why some people are highly sensitive while others remain unresponsive,' the researchers wrote. To answer these questions better in a standardised setting, scientists have now set up a 'tickling lab' that contains a chair with a plate with two holes in it. In this set up, participants put their feet through the holes, and a mechanical stick tickles the soles of their feet. This ensures consistency: that every tickle experiment is carried out the same way. As participants experience tickling, neuroscientists record what happens in their brain, and also check other physical reactions like heart rate, sweating, breathing, or laughter and screaming. 'By incorporating this method of tickling into a proper experiment, we can take tickling research seriously. Not only will we be able to truly understand tickling, but also our brains,' scientists say. 'To conclude, the field will greatly benefit from a qualitative breakthrough, which can be achieved through research standardisation,' they wrote.
