Latest news with #WilliamsSyndrome
RNZ News
2 days ago
- Entertainment
- RNZ News
Hello to everybody: Aotearoa's friendliest artist Sallie Culy
If cities can be lonely places no one told artist Sallie Culy. A familiar face on the streets of inner city Pōneke Wellington, Sallie counts many people she has met a friend. Its an approach to life summed up in the title of a book of her drawings recently published: Hello to Everybody . Sallie has Williams Syndrome, a rare genetic disorder that causes developmental and learning disabilities. But she has turned impediments into advantages. Making it her business to make her city a friendlier place, she has also become celebrated for her art. Felt pen drawings of friends, family and celebrities, ranging from Elton John to Beyoncé, Culy exhibited in December with up and coming dealer gallery Envy, and in 2022 her drawings were selected to be blown up big and lit for three months as a Courtney Place Lightbox public art project. As an artist Sallie has a naive graphic style more familiar from childhood, but that belies how strong her bold wiry use of line and colour are. It's a style that arguably also makes her work appealing to everybody. Smiles welcome us everywhere, reminding us of the joy in people around us. Hailing from a family of skateboarders and artists, skateboarding is also a common theme - Sallie has even been called a local celebrity at Waitangi Skate Park by Wellington City Council. Hello to Everybody has been published by Bad News books and is widely available. To see examples of Sallie's work and the book go here .
ABC News
6 days ago
- Health
- ABC News
Families love the Longreach way of life, except for a lack of disability services
Adam Ballard is somewhat of a local celebrity in his small outback Queensland town. The Longreach local goes everywhere with a smile, helps the local footy and race clubs, and is a rodeo fanatic. Adam was born with Williams Syndrome, an intellectual disability that requires consistent care. His family has lived in the area for generations and, over his 34 years, Adam has enjoyed the upside of living with a disability in a rural town. "He's so safe. He's got a good life here," Ms Ballard said. But now his 67-year-old parents are planning for when they are no longer around to care for their son. "It's the same for any parent of a child with special needs, that's their greatest concern," Ms Ballard said. Reluctantly, the Ballards have decided their only option is to leave Longreach and set Adam up in Rockhampton, 700 kilometres away. "We've all been born here [in Longreach]. We've lived our lives here. But you do what you have to do," Ms Ballard said. The problem for people in the bush, like the Ballards, is that they have limited choice and control over a permanent independent living situation for their child. Rentals in Longreach are already scarce and there are few registered NDIS providers that have housing. Determined to tackle the issue, Ms Ballard formed the Outback Independent Living (OIL) group in 2019. It has become the peak body and support service for disability in Winton, Longreach, Barcaldine, Blackall, Boulia, Birdsville and smaller towns in between. The vast area spans thousands of kilometres, and of the 10,500 people who live there, 955 have a disability and 196 have an NDIS plan. OIL's vision was to build an "outback village" with disability housing and assisted living. Despite strong support initially from parents and stakeholders, the idea has not come to fruition primarily because of a "catch 22" whereby few NDIS participants have designated home and living supports on their plan, Ms Ballard said. "And then people wanting it don't bother getting it put in their [NDIS] plan because there's no accommodation here." Kathy Ellem, a disability and social work researcher at the University of Queensland, said the government needed to rethink how the NDIS operated in rural areas. "You can't just plant what works in a metropolitan area and hope that it works in a rural area too," Dr Ellem said. "Governments need to provide block funding. The Queensland government said it contributed $2.5 billion annually to the federally run NDIS and would continue to work with Canberra to design supports as recommended by NDIS reviews. Federal NDIS Minister Jenny McAllister said the government was engaging communities to trial new ways of delivering services and addressing gaps. "We want all NDIS participants to access the reasonable and necessary supports they need, no matter where they live," she said. Brisbane-based Katie Grehan, who has been lobbying for people with disabilities in the bush since joining OIL in 2022, said having the right supports in an NDIS plan was crucial. She said "purpose-built villages" were outdated. "Have them living in community, in a home that they either own themselves or they rent, so they have control of the asset and their NDIS plan funds the supports." Beyond housing, another hurdle in the remote region is a startling lack of recreational activities or group programs that support disability participation. "In Brisbane, you can go to a community centre or service providers. You might want to do dance classes, swimming lessons, a cooking class, an art class. You can attend those services on a daily basis," Ms Grehan said. That is the reality in Longreach, which is a hub for smaller towns that get by with less. Longreach resident Daisy Walton, 38, who is legally blind and has autism, is eager for more options to enrich her life. "Like having Vision Australia and Guide Dogs [Australia] if they ever decided to set up a little office here. Even Autism Queensland, as well," Ms Walton said. "It would be nice if it happened, but I don't think it will. [There's] just not enough population." Her mother, Michelle Rose, said the disparity between the bush and more populated areas was distressing. "We've had a lot of families move away, which is a real shame," she said.
CBS News
6 days ago
- General
- CBS News
New Penn Med center in Philadelphia aims to help people with Williams syndrome, develop better treatments
A new specialty center opened Tuesday at the Hospital of the University of Pennsylvania in Philadelphia. It's one of the first in the country to help children and adults with Williams syndrome, a rare condition that makes them extra friendly. "This center is going to be life-changing for families," said Jocelyn Krebs, director of the Armellino Center of Excellence for Williams Syndrome. For Krebs, this work is personal. She researched the disorder for decades and then had a child born with the condition, which she calls "an insane coincidence." "Suddenly I went from a scientist who understood Williams syndrome very deeply in one way to a mom trying to figure out, what do you do with a kid that has these various challenges?" Krebs said. The center includes a sensory room with different lights and playful distractions to ease anxiety, which is common for people with Williams syndrome. Krebs' son Rhys has intellectual disabilities, a primary symptom of Williams syndrome. In collaboration with Children's Hospital of Philadelphia, the center will provide comprehensive care and research for adults and children with Williams syndrome, which often comes with severe heart problems and social challenges. "A behavior that is very characteristic of Williams syndrome, sometimes called the cocktail party syndrome because of it … is this incredible friendliness, hypersociability," Krebs said. "And what it really is is just a completely uninhibited social approach." With the right kinds of early intervention, people with Williams are able to thrive. This center will help assure that can happen and look for better treatments and new hope for brighter futures. An estimated 20,000 to 30,000 people in the United States have Williams syndrome, which is diagnosed with genetic testing. Learn more about the center on Penn Medicine's website.
Time of India
17-05-2025
- Health
- Time of India
What is Williams Syndrome? The rare condition that makes people unusually friendly
Picture striking up a conversation with a stranger on the bus and immediately feeling like they are your best friend or walking down a busy street feeling a wave of warmth, affection, and trust toward every single person you pass. For people with Williams Syndrome (WS), this isn't unusual, it's how they experience the world every day. A rare genetic disorder , Williams Syndrome, affects around 1 in 7,500 to 10,000 people worldwide. It is caused by the deletion of a small segment of chromosome 7, which contains 25–27 genes. This deletion not only leads to a unique personality marked by extreme empathy and sociability but also a range of symptoms, including distinctive facial features, developmental delays, and cardiovascular issues. Often described as the 'opposite of autism', people with Williams Syndrome are inclined towards forging instant connections with even strangers. However, on the flip side they fail to maintain friendships and social connections over a long period of time, which leaves them isolated. They are highly verbal, overly trusting, and eager to please. While these traits can be endearing, they can also make them vulnerable to manipulation and social isolation , especially as they struggle to maintain long-term friendships. by Taboola by Taboola Sponsored Links Sponsored Links Promoted Links Promoted Links You May Like 여성 갱년기, '이것' 몰라서 20kg 살쪘다..(+이유) 현수맘 더 알아보기 Undo "It's very easy for someone to fool a person with Williams Syndrome and take advantage of them, because they are so trusting," Alysson Muotri, a professor of paediatrics and cellular and molecular medicine at the University of California, San Diego (UCSD) told BBC. "They give themselves to anybody without prejudice, which seems like a lovely trait, but at the end of the day there is a reason why the human brain evolved to be a little bit suspicious of a new person. You don't know if that person is there to hurt you or to love you, and they [a person with WS] cannot make that distinction," he says. Symptoms of Williams Syndrome WS is usually diagnosed in early childhood, often due to heart problems like supravalvular aortic stenosis (a narrowing of the large blood vessel that carries blood from the heart). Other common features include low muscle tone, delayed milestones like walking or sitting, dental abnormalities, and endocrine issues such as early puberty or hypothyroidism. Many also have mild to moderate intellectual disabilities, although verbal abilities are often strong. The genetic abnormality that makes people over-friendly Interestingly, researchers have begun to explore what makes people with WS so uniquely social. The gene GTF2I, often missing or altered in those with the condition, may play a central role. Studies on animals and humans suggest that this gene influences sociability. In mice, for example, a lack of GTF2I results in increased social behavior. In contrast, having extra copies of the gene is linked to social withdrawal and traits associated with autism. One theory suggests that the deletion of GTF2I disrupts the brain's myelination process. Myelin acts like insulation for neurons, speeding up communication between brain regions. Without proper myelination, the connection between the amygdala (which processes fear) and the frontal cortex (responsible for decision-making and social judgment) weakens. This may explain why people with WS don't exhibit the typical hesitation or fear around strangers. Boaz Barak, a professor at Tel Aviv University, is currently studying how clemastine—a common allergy medication that enhances myelination—might help treat WS. Early trials are underway, with results expected in late 2025. Beyond myelin, Muotri's team has discovered that neurons in people with WS form more synapses—connections between brain cells—than average. This neural 'overconnectivity' could explain why they experience such intense social reward from meeting new people. Their brains may release dopamine—the feel-good chemical—more readily in response to social interactions. Other factors may include elevated levels of oxytocin, the so-called 'love hormone,' and energy deficits in brain cells due to dysfunctional mitochondria. Together, these biological quirks paint a picture of a brain wired for connection, but not always equipped to navigate its complexities. Still, many families of individuals with WS emphasize the joy their children bring to those around them. 'We're not trying to erase their personalities,' Barak told BBC. 'We're simply offering tools to help them navigate the world more safely.' Are dating apps only for hook ups? One step to a healthier you—join Times Health+ Yoga and feel the change
BBC News
15-05-2025
- Health
- BBC News
Williams Syndrome: The people who are too friendly
People with Williams Syndrome treat strangers as their new best friends. Now the condition is giving clues to our evolutionary past – and what makes us human. Imagine walking down the street and feeling an overwhelming love and warmth for every single person that you met. That is a familiar experience for people with Williams Syndrome (WS), a rare genetic condition that effects approximately 1 in 7,500 individuals. People with WS, often dubbed the 'opposite of autism', have an innate desire to hug and befriend total strangers. They are extremely affectionate, empathetic, talkative and gregarious. They treat everyone they meet as their new best friend, yet there is a downside to being so friendly. Individuals often struggle to retain close friendships and are prone to isolation and loneliness. People with WS are also sometimes too open and trusting towards strangers, not realising when they are in danger, leaving them vulnerable to abuse and bullying. "It's very easy for someone to fool a person with Williams Syndrome and take advantage of them, because they are so trusting," says Alysson Muotri, a professor of paediatrics and cellular and molecular medicine at the University of California, San Diego (UCSD). "They give themselves to anybody without prejudice, which seems like a lovely trait, but at the end of the day there is a reason why the human brain evolved to be a little bit suspicious of a new person. You don't know if that person is there to hurt you or to love you, and they [a person with WS] cannot make that distinction," he says. Few people with WS live independently as adults, and many suffer from severe anxiety. There are also health problems that accompany the condition, such as cardiovascular disease, developmental delays, and learning disabilities. Many people with WS have a lower IQ than the average, for example. Over the last decade, scientists have learned more about the condition, which is offering a unique window into how some of the traits that make us human – such as kindness, trust, and friendliness – evolved. First off, some facts. Humans have 46 chromosomes, organised into 23 pairs. During sperm or egg development, a process called 'recombination' occurs where genetic material is swapped between matching pairs of chromosomes. However in WS, the process goes wrong, and a whole section of DNA from one copy of chromosome seven is accidentally deleted. As a result, people with WS are missing one copy of between 25-27 genes. These genes serve various functions. For example one, ELN, codes for a protein called elastin, which provides flexibility and elasticity to tissues throughout the body. A lack of elastin causes the artery walls to stiffen, leading to lifelong cardiovascular problems for people with Williams Syndrome. Another gene, BAZ1B, affects the growth of what are known as neural-crest cells. These are stem cells which eventually form the basis of many tissues, including the bones and cartilage of the face. People with Williams Syndrome have distinct facial characteristics, such as a small, upturned nose, wide mouth, and small chin. A social gene Yet pinpointing the gene, or genes, responsible for the increased friendliness of people with WS has proved more elusive. One theory is that BAZ1B could have a role here too. Some neural-crest cells go on to form the adrenal glands, which, through their release of adrenaline are responsible for the fight or flight response. It's feasible that people with fewer or impaired neural crest cells could produce less adrenaline. This, in turn, could make them less fearful of strangers. Meanwhile, other scientists believe that a gene called GTF2I could be responsible. For example, research has shown that individual animals who lack GTF2I tend to be more social than other members of their species. Unpublished research suggests that fruit flies who don't have the gene like to eat together. Mice without GTF2I are more likely to approach a second 'stranger' mouse. Dogs also contain a variant of the GTF2I gene thought to make it less effective, which could explain their overt sociability and friendliness compared to wolves. Meanwhile, people who have a duplication of the gene tend to develop a form of autism characterised by social phobia. Nevertheless, the exact mechanism by which GTF2I controls sociability isn't known. The protein GTF2I codes for is a transcription factor, meaning that it helps to regulate the expression of many other genes. One theory holds that the personality profile of WS individuals could be related to an impairment of myelin, the insulating layer or 'sheath' that wraps around nerves, especially those in the brain and spinal cord. "Just like the electrical cable in your house, which is covered by a plastic insulation layer, myelin is crucial for the proper transmission of electrical signals from one neuron to another," says Boaz Barak, an associate professor at Tel Aviv University in Israel. Barak and colleagues recently showed that not only were mice bred to lack GTF2I more social, but that their neurons contained less myelin. Giving them a drug that improved myelination made their behaviour more like that of other mice. As myelin dramatically speeds up the rate at which electrical signals can travel, one explanation is that the loss of myelin could lead to slower, sluggish nerve cells. This could explain some of the cognitive difficulties faced by people with Williams Syndrome, as well as the poor motor skills associated with the condition. However, Barak believes it could also disrupt the communication between the amygdala, the tiny, walnut shaped region of the brain that processes fear and emotion, and the frontal cortex – a region responsible for decision making, personality, and emotions. This could explain why people with WS do not fear, or mistrust strangers. "What we discovered is that when you don't have GTF2I, the myelination process is impaired, leading to weak communication between the brain regions responsible for fear, and those in charge of social decision-making," says Barak. Intriguingly, a FDA approved drug called clemastine – commonly used to treat allergies – is known to improve myelination. As brain samples donated by people with Williams Syndrome also show impairments in myelination, Barak and his team plan to repurpose clemastine as a potential treatment for the condition. They are currently assessing its safety and effectiveness in a phase 1 clinical trial – the first stage of testing done on humans – due to complete in December 2025. "Individuals with Williams Syndrome have amazing traits that neurotypical people could learn from, so their behaviour is not something that we need to correct necessarily," says Barak. "We meet a lot of families and it is common to hear a parent saying, 'I would never change how much love she gives to the world, or I adore how friendly and loving she is.' However what we are trying to do is to develop treatments based on drugs that are already out there for those who want to use them," he says. Barak's lab have also found that mice bred to lack the gene GTF2I also have dysfunctional mitochondria in their neurons. Mitochondria are the powerplants present in every cell that produce energy for the body to use. Brain samples from individuals with Williams Syndrome also show that their mitochondria do not develop and function properly. "Neurons need energy in order to do their job, and what we found is that without GTF2I, the network of mitochondria does not form correctly," says Barak. "As a result, neurons have trouble meeting their energy needs – they suffer a power outage." As a result of this, toxic substances build up inside the neurons, potentially preventing them from firing properly, according to Barak. Meanwhile, others have suggested that losing the GTF2I gene could increase levels of oxytocin, the so-called "love hormone", in the brain. Research shows that people with WS produce more oxytocin, and have more oxytocin receptors – proteins that recognise and bind to oxytocin – than healthy controls. Muotri, on the other hand, believes that the increased friendliness shown by people with WS can be explained by the number of synapses – or connections – in their brains. In 2016, his team took stem cells from the discarded baby teeth of children with WS. The cells were then reprogrammed to form neurons capable of forming connections, just like those seen in developing brains. On close examination, the neurons of these lab-grown mini brains were remarkably different. "There were more synapses than normal, so the neurons were more branched and made more contacts," says Muotri. In the 2016 study, the team also examined post-mortem samples taken from people with WS who had donated their brains to science. The same patterns were observed – the neurons of people with WS were more branched and formed more connections with other neurons. Although Muotri and his team haven't yet unravelled all of the circuits involved, he suggests that it's likely that in WS, the frontal cortex forms more connections with the parts of the brain involved in reward. "When you remember someone or see someone that you like, your brain releases dopamine which creates a good sensation," he says. "I think people with Williams Syndrome might have a dysregulation in this neurotransmitter. So when they see a new face, they immediately get a release of dopamine, and they feel good about it." On the flip side of the coin, the team found that mini brains grown using stem cells from children with autism have fewer neuronal connections. "We showed that if you lower the expression of the [GTF2I] gene, you make more connections, and if you increase the expression of the gene, you create less connections – which is amazing," says Muotri. As traits like trust, kindness, and friendliness are so important to human survival, Muotri believes that evolution must keep a tight rein on the expression of the GTF2I gene. Humans are a social species, and our very survival rests on collaborating with one another. We need to be able to trust each other to a certain extent. "The specific balance [of GTF2I] is probably quite important, as being too friendly is not a good thing, but not being friendly enough is also not a good thing," says Muotri. "So what evolution has done is tune the expression of that gene – it's found the exact right amount of socialisation that we can all tolerate." * All content within this column is provided for general information only, and should not be treated as a substitute for the medical advice of your own doctor or any other health care professional. The BBC is not responsible or liable for any diagnosis made by a user based on the content of this site. The BBC is not liable for the contents of any external internet sites listed, nor does it endorse any commercial product or service mentioned or advised on any of the sites. Always consult your own GP if you're in any way concerned about your health. -- For trusted insights into better health and wellbeing rooted in science, sign up to the Health Fix newsletter, while The Essential List delivers a handpicked selection of features and insights. For more science, technology, environment and health stories from the BBC, follow us on Facebook, X and Instagram.
