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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.”

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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.

“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.

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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

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Take the Stress Out of Introducing Solid Foods to Baby: 6 pediatrician-recommended tips

Watching your baby learn and grow can provide some of the most rewarding moments in life, full of emotions from parents and babies alike.

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Baby

(Family Features) Watching your baby learn and grow can provide some of the most rewarding moments in life, full of emotions from parents and babies alike. Some milestones are more stressful or frustrating than others and, during these moments of newness, seeking guidance from health care professionals can go a long way.

Healthy Baby

As the 2020-2025 Dietary Guidelines for Americans recognize, the time period from 6-24 months is when babies begin building healthy eating patterns and experience eating a variety of foods, including vegetables, fruits and whole grains. This journey can be stressful for parents as they begin to navigate what and how much is right to feed their babies. As parents begin to explore this fun and messy milestone, they often question what and how much is right to feed baby and seek guidance from experts.

While every child is different and parents should always defer to their pediatrician to be sure their baby is developmentally ready for solid foods, consider these six tips and tricks based on frequently asked questions for transitioning to solids from Dr. Whitney Casares, MD, MPH, pediatric medical consultant for Gerber.

  • Make sure baby is ready: Most babies start solid foods between 4-6 months old. Watch for signs your baby is ready to start solids like good head control, sitting up with support and swallowing food instead of pushing it back out onto his or her chin. Don’t introduce solids to your baby before 4 months old. Your pediatrician can offer guidance about when the time is right for your little one.
  • Timing is everything: When you’re first introducing solids, choose a moment in the day when your baby is happy and alert. Weekends tend to be easier times to start solid foods for families than busy weekdays. The more you can be in the moment with your child during those first feeding experiences, the better for you and him or her.
  • Feed your baby the rainbow: Offer baby a diverse array of fruits, vegetables, iron-fortified whole grains and meats. Over the first six months of your baby’s feeding journey, iron-fortified cereals and purees can make feeding your baby convenient and simple. From apple and pear to zucchini, butternut squash and parsnips, Gerber’s 1st and 2nd foods lines offer a variety of purees that are just the right consistency for babies to practice tongue movements and advance their eating skills. Your baby’s first tries at swallowing solid foods may be awkward and require practice. Offering a small amount of breastmilk or formula before solids can help ensure he or she is not uncomfortably hungry.
  • Supervise baby: Babies should always be supervised and seated in a secured highchair when eating, and parents should avoid choking hazards like whole grapes, nuts or cherry tomatoes. Use a soft, rubber-tipped spoon and start by guiding the spoon to his or her mouth with both your hand and your child’s hand on the spoon.
  • Baby-led feeding: Consider baby-led feeding as a way to capitalize on the best aspects of baby-led weaning and spoon-feeding. Offer small amounts of nutritious foods in soft, easy-to-pick-up chunks appropriate for your baby’s developmental stage in addition to purees by pre-loading the spoon with your baby’s favorite puree or infant cereal for him or her to self-feed. As your baby gets older, look for baby-led friendly snacks, such as Gerber Lil’ Crunchies, that are specifically designed for babies to self-feed and fortified with key nutrients.
  • Don’t get discouraged: Just because your baby makes a “yuck” face after trying a food for the first time doesn’t mean you should give up on it. Babies often need to try solid foods several times before they grow accustomed to them. Don’t be discouraged if your first attempt with a food seems less than successful; it’s all part of the process.

For more expert tips and resources for introducing solid foods, visit Gerber.com/learning-center.
 

Photos courtesy of Getty Images

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Our Lifestyle section on STM Daily News is a hub of inspiration and practical information, offering a range of articles that touch on various aspects of daily life. From tips on family finances to guides for maintaining health and wellness, we strive to empower our readers with knowledge and resources to enhance their lifestyles. Whether you’re seeking outdoor activity ideas, fashion trends, or travel recommendations, our lifestyle section has got you covered. Visit us today at https://stmdailynews.com/category/lifestyle/ and embark on a journey of discovery and self-improvement.

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5 Tips to Keep Kids Healthy During the Holidays

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(Family Features) As the year comes to a close, the weather gets colder and indoor festivities ramp up. Keeping children and their families healthy during the holidays should be a priority for everyone.

Healthy Kids

“While gathering with friends and loved ones is an exciting and important part of the holiday season, staying healthy should still be on top of your ‘to-do’ list,” said Drs. Tress Goodwin and Joelle Simpson, KinderCare medical advisors. “Simple actions can be some of the most effective at keeping everyone healthy to ensure this season is a joyous one.”

Consider these five tips from KinderCare’s medical experts to keep in mind throughout the holidays.

  1. Wash hands regularly. One of the simplest ways to prevent germ spreading is to wash your and your children’s hands often using soap and water or an alcohol-based sanitizer. Try to remember to wash your hands after leaving public places, before eating and after any diaper change or restroom visit. If someone in your home is not feeling well, wash your hands more often.
  2. Share joy, not germs. Try to distance yourself from anyone who is sick (like those with coughs and colds) and avoid close contact with others when you or your child are sick. Encourage children to cough or sneeze into their elbows if no tissues are available. As a good at-home practice, regularly clean and disinfect commonly touched surfaces such as toys, cabinet and doorknobs, counters and tabletops.
  3. Keep meals well-balanced. Offer a healthy snack before holiday treats or make healthier versions of holiday favorites. Consider healthy snack options like fresh vegetables, fruits and dip, dried fruits, nuts or roasted sweet potatoes that can boost immunity for children and help balance out sugary treats. It’s also important to remember to eat healthy portion sizes and encourage children to listen to their bodily cues for hunger and fullness. Avoid juices or other sugary drinks and encourage children to drink plenty of water.
  4. Schedule personal time and get plenty of rest. Festivities can be merry but also overwhelming, especially for young children. Loud music, bright lights, lots of people and changes in schedules can leave them feeling overstimulated, which can lead to emotional outbursts. Make sure to leave some time in your week for simple joys, like cuddling up to read a book together or quiet play with immediate family members, so children have a chance to step out of the hustle and bustle. Remember holidays are meant to be fun, not stressful. While it may be tempting to pack every day with fun-filled activities, try to maintain children’s routines, including nap and bedtime schedules.
  5. Stay active. No matter what the weather is like, kids still need time to be physically active. Indoor play can be just as effective as time spent on the playground. Get creative with at-home winter fun with activities like dance parties, scavenger hunts and kids’ yoga. You can also visit indoor locations such as malls and museums to get those legs moving.

For more information or tips on holiday eating, indoor exercise and keeping children safe during the holidays, visit KinderCare.com.

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Our Lifestyle section on STM Daily News is a hub of inspiration and practical information, offering a range of articles that touch on various aspects of daily life. From tips on family finances to guides for maintaining health and wellness, we strive to empower our readers with knowledge and resources to enhance their lifestyles. Whether you’re seeking outdoor activity ideas, fashion trends, or travel recommendations, our lifestyle section has got you covered. Visit us today at https://stmdailynews.com/category/lifestyle/ and embark on a journey of discovery and self-improvement.

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Halloween candy binges can overload your gut microbiome – a gut doctor explains how to minimize spooking your helpful bacteria

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Halloween
It’s probably best to enjoy your Halloween spoils in moderation. Jupiterimages/The Image Bank via Getty Images

Christopher Damman, University of Washington

Each October, as the days shorten and the air grows crisp, millions of Americans prepare for the beloved – and often sugar-fueled – tradition of Halloween. From jack-o’-lanterns glowing on porches to costumes ranging from the whimsical to the gory, Halloween is a time of playful scares, childhood memories and, of course, candy.

But as the wrappers pile up and the sugar rush hits, there’s something far more sinister brewing beneath the surface: the negative effects of candy on your gut health.

Sugar and other ingredients in Halloween treats can cast a sickly spell on the trillions of microorganisms that reside in your gut, collectively known as the gut microbiome. As a gastroenterologist and gut microbiome researcher at the University of Washington School of Medicine, I have dedicated my career to decoding the cipher of how food affects this microbial community within your gut.

While no candy is truly healthy, some options are better for your gut than others. And there are ways you can help wake your gut from its sugar “spell” after holiday indulgence.

Gut-busting treats

What does all this candy do to your gut?

In a healthy state, your gut microbiome acts like a microbial factory. It digests nutrients your body can’t – such as fiber and colorful, health-conferring plant compounds called polyphenols – and produces important molecules called metabolites that protect against infection and support brain health. It also regulates metabolism, or the transformation of food into useful components that power and grow cells.

A balanced diet keeps your gut’s microbial cauldron churning smoothly. But the concentrated sugar, saturated fat and additives in candy can throw things into disarray by feeding inflammatory microbes that weaken your gut barrier – the protective lining that separates your microbiome from the rest of the body.

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Once the gut barrier is breached, even friendly microbes can stir up inflammation, causing health issues ranging from overweight to obesity, infections to autoimmune disease, and mild cognitive impairment to Alzheimer’s.

The food you eat shapes your gut microbes, which in turn shape your overall health.

Sugar and inflammation impair your microbiome’s ability to digest food and regulate metabolism. Instead of producing healthy byproducts – such as butyrate from fiber and urolithin A from polyphenols – candy lacking these nutrients may trick your system into storing more fat, providing less energy for your muscles and brain.

Too much candy can also affect your immune system. A healthy gut microbiome helps your immune system distinguish between friend and foe, reducing the risk of infections and autoimmune disorders. Sugar and inflammation undermine the microbiome’s role in training the immune system to distinguish between harmful invaders and harmless substances. Without a carefully calibrated immune system, your body may not effectively clear infections or may strongly react to its own cells.

Neurologically, excess sweets can also affect the gut-brain axis, the two-way communication between the gut and brain. A healthy microbiome normally produces neurotransmitters and metabolites, such as serotonin and butyrate, that influence mood and cognitive performance. Sugar and inflammation adversely affects the microbiome’s role in mental health and cognitive function, contributing to depression, anxiety and memory troubles.

The candy conundrum

Not all Halloween treats are created equal, especially when it comes to their nutritional value and effects on gut health. Sugar-coated nuts and fruit such as honey-roasted almonds and candy apples rank among the top, offering whole food benefits just beneath the sugary coating. Packed with fiber and polyphenols, they help support gut health and healthy metabolism.

On the opposite end of the spectrum are chewy treats such as candy corn, Skittles, Starbursts and Twizzlers. These sugar-laden confections are mostly made of high fructose corn syrup, saturated fat and additives. They can increase the unsavory bacterial species in your gut and lead to inflammation, making them one of the least healthy Halloween choices.

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Chocolate-based candies, however, stand out as a more microbiome-friendly option. While varieties such as Twix, Three Musketeers and Milky Way contain only a small amount of chocolate, pure chocolate bars – especially dark chocolate – are rich in fiber and polyphenols. In moderation, dark chocolate with at least 80% to 85% cacao may even benefit your gut microbiome and mood by encouraging beneficial bacterial species to grow.

Two green apples on a stick, coated in caramel and dusted with pecans. Halloween
Candy apples usually provide a serving of fruit and nuts. Ryan Benyi Photography/Connect Images via Getty Images

Chocolates with whole nuts, such as almonds or peanuts, offer a boost of fiber, protein and omega-3 fats, making them a healthier choice. Dark chocolate with nuts is best. But when sorting through Halloween treats, Peanut M&Ms, 100 Grands and Almond Joys may be better options over Rolos, Krackels and Crunches. Even candies with processed nuts, such as Reese’s Peanut Butter Cups and Butterfingers, retain small amounts of fiber and protein, making them preferable to nut-free options.

At the bottom of the list, along with chewy sugar candies, are pure sugar candies such as lollipops, Jolly Ranchers, gummies and Smarties. These sweets lack nutritional value, and their high sugar content can contribute to the growth of unhealthy bacteria in your gut microbiome.

In the end, all candies are high in sugar, which can be harmful when consumed in large quantities. Moderation and an otherwise balanced diet is key to enjoying Halloween treats.

Rebalancing after indulgence

If the microbiome is critical for health, and candy can disrupt its balance, how can you restore gut health after Halloween?

One simple strategy is focusing on the four F’s of food: fiber, phytochemicals, unsaturated fats and fermented foods. These food components can help support gut health.

Fiber-rich foods such as whole grains, nuts, seeds, beans, fruits and vegetables regulate digestion and nourish beneficial gut bacteria.

Partially unwrapped chocolate bar
Dark chocolate is a treat that may offer some health benefits. Wachiwit/iStock via Getty Images Plus

Polyphenol-rich foods such as dark chocolate, berries, red grapes, green tea and extra virgin olive oil help reduce inflammation and encourage the growth of healthy gut bacteria.

Unsaturated fats such as omega-3 fats, walnuts, chia seeds, flaxseed, avocados and fatty fish such as salmon can also support a healthy microbiome.

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Fermented foods such as sauerkraut, kimchi, yogurt, kefir and miso help replenish beneficial bacteria and restore gut balance.

To make tracking your diet easier, consider using a food calculator to measure how well your meals align with the four F’s and microbiome friendly options. Like a virtual “spellbook,” an online tool can help ensure your food choices support your gut health and ward off the effects of sugar overload.

As my daughters often remind me, it’s perfectly fine to indulge every now and then in a few tricks and treats. But remember, moderation is key. With a balanced diet, you’ll keep your gut healthy and strong long after the Halloween season ends.

Christopher Damman, Associate Professor of Gastroenterology, School of Medicine, University of Washington

This article is republished from The Conversation under a Creative Commons license. Read the original article.

Our Lifestyle section on STM Daily News is a hub of inspiration and practical information, offering a range of articles that touch on various aspects of daily life. From tips on family finances to guides for maintaining health and wellness, we strive to empower our readers with knowledge and resources to enhance their lifestyles. Whether you’re seeking outdoor activity ideas, fashion trends, or travel recommendations, our lifestyle section has got you covered. Visit us today at https://stmdailynews.com/category/lifestyle/ and embark on a journey of discovery and self-improvement.

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