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Study Identifies Cause for Mysterious Cases of Epilepsy in Children

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International collaboration uncovers mosaicism, a condition in which cells within the same person have a different genetic makeup, as a cause for pediatric seizures

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Credit: Pixabay
By studying resectioned brain tissue for mutations, researchers have identified genetic factors that may cause malformations of cortical development, a form of pediatric epilepsy.
« Study Identifies Cause for Mysterious Cases of Epilepsy in Children

Newswise — Epilepsy is present in 4% of the population, and is among the most common brain disorders in children. Modern medicine can prevent most seizure recurrences, but approximately 20% of patients do not respond to treatment.

In these cases, the reason may originate in patches of damaged or abnormal brain tissue known as “malformations of cortical development” (MCD), which results in a diverse group of neurodevelopment disorders. Surgical resection or removal of the patch can cure the seizures, and epilepsy surgery to improve neurological outcomes is now a key part of the modern medical armamentarium, but what causes the patches has largely remained a mystery.

Writing in the January 12, 2023 issue of Nature Genetics, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine, collaborating with an international consortium of more than 20 children’s hospitals worldwide, report a significant breakthrough in understanding the genetic causes of MCD.

Members of the Focal Cortical Dysplasia Neurogenetics Consortium investigated 283 brain resections from children across a range of MCD types, with parental consent, looking for potential genetic causes. Because most brain tissue in these children is normal, the scientists focused on mutations present in a small subset of brain cells, a phenomenon termed genetic somatic mosaicism.

“This was a decade-long journey, bringing specialists together from around the world, to recruit patients for this study,” said senior study author Joseph Gleeson, MD, Rady Professor of Neuroscience at UC San Diego School of Medicine and director of neuroscience research at the Rady Children’s Institute for Genomic Medicine. “Until recently, most hospitals did not study resected brain tissue for genetic causes. The consortium organized a biobank to store tissue for high-throughput mosaicism analysis.”

Previous research by Gleeson and colleagues had shown that genetic somatic mosaicism in the mTOR signaling pathway was a contributing factor, said co-first author Changuk Chung, PhD, a postdoctoral fellow in the Gleeson lab.

“But most patients remain undiagnosed, which hinders treatment. We tested for hidden mutations, detectable only by greatly expanding the cohort size and improving methods so that the results could be meaningful. We collaborated to solve technical and logistical bottlenecks. The pieces fell into place, but it took 10 years.”

The team conducted intensive genomic discovery using state-of-art somatic mosaic algorithms developed by the National Institutes of Health-sponsored Brain Somatic Mosaicism Network, of which UC San Diego is a member.

“We tried our best to detect mutations in as little as 1 percent of cells,” said co-first author Xiaoxu Yang, PhD, a postdoctoral scholar in Gleeson’s lab. “Initially we failed. To solve these problems, we needed to develop novel artificial intelligence methods to overcome barriers in sensitivity and specificity.”

The team ultimately identified 69 different genes carrying somatic brain mutations, the majority of which have never previously reported in MCD.

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“We can draw parallels with the cancer field because these mutations disrupt cellular function and need to be resected,” said co-first author Chung. “However, unlike cancer cells, brain cells mostly do not divide so these cells misbehave by stimulating epileptic seizures. The question that arose was whether the newly found gene mutations were sufficient to cause MCD disease.”

Gleeson said the scientists found that the genes converged on calcium signaling, gene expression and synaptic functions, and noted that when the mutations were introduced into a mouse model, abnormalities similar to those seen in patients were observed. The study authors suggest the findings could be used to improve diagnosis and develop cures for MCD disease.

“The MCD genes in patient brains have demonstrated critical roles during cortical development,” said Gleeson. “These findings could lead to new molecular classifications for MCD, and ultimately to personalized therapies for epilepsy.”

For a complete list of co-authors, see full study.

Funding for this research came, in part, from the National Institutes of Health (grants NIMH U01MH108898 and R01MH124890, NIA R21AG070462, NINDS R01NS083823), the San Diego Supercomputer Center and UC San Diego Institute of Genomic Medicine.

Source: University of California San Diego

Lifestyle

Saving a Life This Summer: Ways to Step Up Safety Practices

Regardless of where you are, summer is a reminder that emergencies like cardiac arrest can happen anywhere. Take the safety of those around you into your own hands this summer with this checklist.

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Saving a Life This Summer: Ways to Step Up Safety Practices

(Feature Impact) The busy summer season can take you almost anywhere – baseball fields, backyard cookouts, long workdays or road trips across the country. Regardless of where you are, summer is a reminder that emergencies like cardiac arrest can happen anywhere.

More than 350,000 out-of-hospital cardiac arrests occur in the United States each year, and 90% of people will not survive, according to the American Heart Association, a nonprofit organization devoted to changing the future for a world of healthier lives for all. Sudden cardiac arrest can happen anytime, anywhere. People often hesitate to step in. In fact, nearly 2 out of 3 adults believe CPR can only be performed by medical professionals. This mistaken belief can cost lives and contributes to the low survival rate.

Ordinary people have extraordinary power. You don’t need to wear scrubs or have a medical background to save a life – you just need the courage to act.

Take the safety of those around you into your own hands this summer with this checklist.

Plan Ahead

Summer is often a time for welcome disruptions, including vacations, camps, sports and parties. Before traveling or attending events, check if your destination has a cardiac emergency response plan, which establishes specific steps to reduce death from cardiac arrest in any setting, from schools and community organizations to workplaces and sports facilities.

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Cardiac arrest can happen anywhere: at home, at work, in schools, at a soccer game or on vacation. When it happens, the first chance for survival often rests with the people nearby.

Anyone can be the difference before professional help arrives. The power to save a life is in your hands. CPR is a human responsibility, not just a medical skill. When friends, family or even strangers step in during cardiac emergencies, survival rates can double or even triple.

Hands-Only CPR for adults consists of two easy steps:

  • Call 9-1-1 or shout for someone else to call.
  • Push hard and fast in the center of the chest to the beat of a familiar song that’s 100-120 beats per minute, such as “Stayin’ Alive” by the Bee Gees.

Share Resources with Your Family and Community

Once you’ve learned simple, two-step Hands-Only CPR, share resources with your community to help expand the American Heart Association’s Nation of Lifesavers. Raising awareness with family, neighbors and colleagues can help people feel confident in the face of an emergency.

Families can watch short instructional videos that demonstrate the life-saving steps for adults as well as techniques for infants and children.

Travelers can also get trained in about 5 minutes with a Hands-Only CPR Kiosk, located in many airports and public spaces across the country.

To find more information about learning CPR, visit Heart.org/Nation.

Summer Safety Tips

In addition to learning CPR and sharing valuable resources with your family and community, consider these ways to keep yourself and loved ones safe throughout the summer months.

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  • Stay Hydrated: High temperatures can quickly lead to dehydration and heat-related illness. Drink water regularly throughout the day, especially during outdoor activities, and pack extra water when away from home.
  • Protect Your Skin: Hats, sunglasses and lightweight clothing can protect skin from sun exposure, but it’s important to use broad-spectrum sunscreen and reapply every 2 hours.
  • Swim with a Buddy: Hopping in a pool, lake or ocean is a hallmark of summer but can be dangerous without precautions. Never swim alone and ensure children are always supervised by an adult near water.
  • Identify the Locations of Safety Equipment: When attending camps, heading to a sporting event or enjoying the pool or beach, identify where lifeguards, AEDs and emergency exits are located. Knowing where to find help can save valuable time when every second counts.
  • Practice Grill Safety: Some of your most memorable summer moments may happen during a backyard barbecue or cookout, and it’s important to keep those gatherings safe. Use grills away from homes, decks and dry grass. Never leave them unattended while cooking, and be sure kids and pets stay at a safe distance from hot surfaces.

Saving a Life Within 1 Year of Learning CPR

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On a chilly Tuesday, dawn was breaking as Matthew Lynch reached his highway exit, but traffic was backed up at a particular intersection. He waited through three cycles before finally getting close enough to see the holdup: a stalled SUV.

While most cars buzzed by, Lynch moved slowly and peered into the vehicle. He saw people inside and parked his sedan, flipped on the hazard lights and ran to the stalled SUV. As he knocked on the driver’s window, there was no response. The doors were locked. Two people – a male driver and female passenger – were unresponsive.

Lynch ran back to his own car and called 9-1-1 before managing to open the driver’s side door. He discovered the driver was not breathing normally, signaling to Lynch he’d need to start CPR – which he’d learned 10 months earlier during a training session he’d helped organize for a work-sponsored men’s group.

Knowing he had to do something, Lynch started pushing hard and fast in the center of the man’s chest. Within a minute, the man gasped for breath.

Just as Lynch leaned over to see if he could help the female passenger, first responders arrived and Lynch backed away, knowing there was nothing more he could do.

“It was just a lot to take in,” said Lynch, a member of the American Heart Association’s 2026 Nation of Lifesavers Class, a small group of volunteers, dedicated to raising awareness of CPR by sharing their own personal stories of survival or rescue. “Mostly I felt an incredible sense of gratitude that I could help someone.”

A strong admirer of the Good Samaritan parable, Lynch is always on the lookout for the opportunity to help others. He learned a lot about himself in that moment and about the importance of learning CPR, along with the confidence that comes from knowing you could be a lifesaver.

“I quickly realized the certification was way less important than the actual CPR training,” he said. “Your ability to help in any capacity is better than doing nothing. If I hadn’t done that training, I probably would not have helped.” collect?v=1&tid=UA 482330 7&cid=1955551e 1975 5e52 0cdb 8516071094cd&sc=start&t=pageview&dl=http%3A%2F%2Ftrack.familyfeatures track

SOURCE:

American Heart Association

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Child Health

9 Steps for a Lifetime of Heart-Healthy Eating

Heart Healthy: More than half of adults and about 60% of children in the United States have unhealthy diets, which can contribute to higher rates of health factors such as high blood pressure and obesity. However, these nine key features of a heart-healthy dietary pattern may help reduce cardiovascular disease risk and improve quality of life.

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9 Steps for a Lifetime of Heart-Healthy Eating

9 Steps for a Lifetime of Heart-Healthy Eating

(Feature Impact) More than half of adults and about 60% of children in the United States have unhealthy diets, which can contribute to higher rates of health factors such as high blood pressure and obesity, and lead directly to poor health outcomes including death from chronic conditions such as cardiovascular disease.

These findings come from the American Heart Association, a global force changing the future of health for all, which published its “2026 Dietary Guidance to Improve Cardiovascular Health” in its peer-reviewed, flagship journal “Circulation” recommending Americans follow a lifelong healthy eating pattern that may reduce cardiovascular disease risk and improve quality of life based on the latest in evidence-based science.

The statement outlines nine key features of a heart-healthy dietary pattern:

  • Adjust energy intake and expenditure to achieve and maintain a healthy body weight: Try to balance how much you eat with how active you are to reach and maintain a healthy body weight.
  • Eat a variety of vegetables and fruits: Include different colors, textures and types of produce. Remember, even canned and frozen can be nutritious and affordable.
  • Choose foods made mostly with whole grains: Foods such as whole‑wheat bread, brown rice and oatmeal are typically better choices than refined grains including white bread or rice.
  • Choose healthy sources of protein: Shift from meat to plant-based sources such as legumes, including beans, peas and lentils, along with nuts and seeds; regularly consume fish and seafood; select low-fat or fat-free dairy products; and, if red meat is desired, choose lean cuts, avoid processed forms and limit portion size.
  • Choose sources of unsaturated fats: Replace saturated fats with healthy unsaturated fats, including those from nuts, seeds, avocados and nontropical plant oils.
  • Choose minimally processed foods: Go with foods close to their natural state, with minimal added commercial ingredients, rather than those that are highly processed with additives.
  • Minimize intake of added sugars: Limit the sugar-sweetened beverages you drink and the foods with added sugar you eat.
  • Choose foods low in sodium and prepare foods with minimal or no salt: Be aware of hidden sources of sodium in prepared and packaged foods, and season food with healthier options such as herbs, spices or lemon instead of salt.
  • If alcohol is not consumed, do not start; if alcohol is consumed, limit intake: Alcohol can increase your risk for high blood pressure and other health conditions, so if you don’t drink, don’t start.

“For healthy eating to be more attainable and sustainable, we recommend people focus on their overall eating pattern rather than specific nutrients or foods,” said Alice H. Lichtenstein, D.Sc., FAHA, volunteer chair of the scientific statement writing committee and senior scientist and leader of the Diet and Chronic Disease Prevention Directive at the Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University. “Every time you choose to make a swap for a healthier alternative, you’re making a step toward a healthier life.”

While the updated guidance is specifically designed to improve cardiovascular health, it’s generally consistent with dietary recommendations for other conditions like Type 2 diabetes, kidney disease, some cancers and brain health as well due to shared risk factors, including high blood pressure, high cholesterol, high blood sugar, excess weight and reduced kidney function.

“A healthy dietary pattern can support lifelong health and well-being beyond cardiovascular health,” Lichtenstein said.

To learn more about eating for heart and brain health, visit heart.org/healthydietand talk to your health care provider about what will work best for you.

Photo courtesy of Shutterstock

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SOURCE:

American Heart Association

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Child Health

A Parent’s Guide to Navigating Picky Eating with Confidence

For families with young children, mealtimes can often feel like negotiations or even battles. If that sounds familiar, you’re not alone. Picky eating is one of the most universal challenges families face. With the right strategies, parents can reduce stress, build healthier habits and help children become more confident, curious eaters.

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Last Updated on April 27, 2026 by Daily News Staff

For families with young children, mealtimes can often feel like negotiations or even battles. If that sounds familiar, you’re not alone. Picky eating is one of the most universal challenges families face. With the right strategies, parents can reduce stress, build healthier habits and help children become more confident, curious eaters.

(Feature Impact)For families with young children, mealtimes can often feel like negotiations or even battles. If that sounds familiar, you’re not alone. Picky eating is one of the most universal challenges families face.

With the right strategies, parents can reduce stress, build healthier habits and help children become more confident, curious eaters. Dr. Lauren Loquasto, senior vice president and chief academic officer at The Goddard School, and registered dietitian Ali Bandier, founder of Senta Health and member of the Expert Council at Little Spoon, share these insights and guidance to help parents navigate picky eating.

Why Young Children are Picky Eaters

Picky eating isn’t just common; it’s an expected part of early childhood development. In fact, it would be more surprising if children didn’t experience a picky eating phase.

Picky eating is a natural expression of independence. As children enter toddlerhood, they discover they can assert control, and food becomes a typical place to do it. They can’t decide whether to go to school or take a bath, but they can decide whether to take a bite of broccoli.

Avoid the Power Struggle

The key for parents: stay calm, consistent and neutral. Pressuring children only makes picky eating worse.

Telling your child they must try one bite, celebrating excessively when they do eat a vegetable or resorting to negotiation (“three more bites then dessert”) can actually reduce their desire to eat. It also creates a dynamic that only reinforces the power struggle.

Instead, recognize the division of responsibility when it comes to eating. Parents decide what food is served, when it’s served and where meals happen. Children decide whether to eat and how much to eat. As a parent, you can’t force your child to eat; recognizing this is critical to reducing the mealtime tug‑of‑war and creating a calmer, more predictable environment for the entire family.

Exposure, Not Pressure

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Young children often need repeated, low‑pressure exposure to a new food before trying it. Offering broccoli once likely isn’t enough. It’s important to offer it repeatedly, without commentary, bribing or coaxing.

Trying new foods is more than just ingesting them. Touching and smelling are steps toward tasting and acceptance. Involving children in food preparation – washing vegetables, stirring batter, mixing ingredients – lets them gain familiarity without the pressure of having to eat. Inclusion in this process increases curiosity and that curiosity is often followed by a willingness, or even desire, to try the food.

It’s also important for parents to model desired eating habits. If you want your child to try salmon but you’re eating pizza, they’re unlikely to want to eat the salmon. Daily family mealtimes – often dinner in busy households – where you’re modeling manners and eating the food you want your child to eat is key.

The Importance of Routines

For young children, routines provide structure, predictability and comfort. A consistent meal and snack schedule helps children learn what to expect and can reduce not only their anxiety around mealtimes, but parental anxiety, too.

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Notably, there is no right or wrong schedule; every family needs to figure out what works best for their circumstances. What matters is setting a schedule and maintaining consistency. For example, if you provide a snack between breakfast and lunch, do it every day, not just a few days a week. This helps children know what to expect and feel comfortable.

Schedules also help parents resist “secondhand cooking.” When a child refuses the meal offered, parents often scramble to make alternatives, but this teaches the child if they hold out long enough, a preferred food will arrive. Instead, calmly remind your child when the next snack or meal will be: “OK, you don’t want to have the yogurt and fruit. That’s fine, but I’m not going to make something else. Snack time is in two hours.” This builds trust and reduces anxiety for everyone.

With patience, low-pressure exposure and consistent routines, most picky eaters gradually broaden their palates and mealtimes become more enjoyable for the whole family. For more parenting guidance, including the Parenting with Goddard blog and webinar series, visit the Parent Resource Center at GoddardSchool.com.

Photos courtesy of Shutterstock

    

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SOURCE:

The Goddard School

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