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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

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.

“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

health and wellness

The Philadelphia Phillies Join Forces with NPCF in the Fight Against Childhood Cancer

Philly Phillies & NPCF join forces to fight childhood cancer, raising awareness and funds through “Cut and Color Funds the Cure” event. #TogetherAgainstCancer

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Bay Care Ballpark for the "Cut and Color Funds the Cure" event, showing their support for childhood cancer awareness and the National Pediatric Cancer Foundation.
Fighting Childhood Cancer: Larry Bowa at the Phillies Cut and Color Funds the Cure for the National Pediatric Cancer Foundation

It is with great pride and admiration that we share the inspiring collaboration between the Philadelphia Phillies and the National Pediatric Cancer Foundation (NPCF). On Friday, March 22, the Phillies organized a remarkable event called “Cut and Color Funds the Cure” at Bay Care Ballpark. This event brought players, staff members, and supporters together to either cut or color their hair red or orange – the official colors of both the Phillies and NPCF. The primary goal of this program was to raise awareness and funding for pediatric cancer research, with the aim of finding a cure for the 43 children diagnosed with cancer every day.

The “Cut and Color Funds the Cure” event showcased the Philadelphia Phillies’ unwavering commitment to making a positive difference in the lives of children battling cancer. By embracing the red and orange hair colors associated with the team and NPCF, players and staff members symbolically demonstrated their solidarity and dedication to the cause. This vibrant display of unity helped generate widespread awareness and captivated the attention of both avid baseball fans and the general public.

  1. In joining forces with NPCF, the Phillies recognized the power of their platform to bring attention to pediatric cancer. By leveraging their influence and engaging in events like “Cut and Color Funds the Cure,” they are raising awareness about this harrowing disease and its impact on children and their families. The collective efforts of the Phillies and the NPCF not only inform the public but also foster a sense of empathy and compassion, inspiring others to join the fight against childhood cancer.

  2. The National Pediatric Cancer Foundation is renowned for its dedication to funding innovative research aimed at eliminating childhood cancer. By partnering with leading hospitals and research institutions nationwide, the foundation strives to find less toxic and more targeted treatment options. The collaboration with the Philadelphia Phillies further bolsters these efforts by providing resources and support to enable groundbreaking advancements in pediatric cancer research.

  3. The Philadelphia Phillies firmly believe in the power of sports to make a positive impact on their community. Through the “Cut and Color Funds the Cure” event, they actively engaged their fans and supporters, encouraging them to contribute to the cause. By creating an inclusive and participatory environment, the Phillies fostered a sense of community and amplified the collective strength of their loyal fanbase.


The partnership between the Philadelphia Phillies and the National Pediatric Cancer Foundation exemplifies the extraordinary potential of collaboration and collective action. By joining forces, the team and the foundation are driving forward the fight against childhood cancer, inspiring hope and uniting people from all walks of life. Through events like “Cut and Color Funds the Cure,” the Phillies demonstrate their unwavering commitment to improving the lives of children battling this devastating disease. Together, we can create a better tomorrow for these young heroes and pave the way for a future without pediatric cancer.

About National Pediatric Cancer Foundation
The National Pediatric Cancer Foundation (founded in 1991) is a national nonprofit organization dedicated to funding research to eliminate childhood cancer. We govern a unique, collaborative research consortium (called the Sunshine Project) consisting of physicians and scientists from over thirty of the top hospitals in the nation. We collaborate to idealize and aggregate the best scientific ideas and fund innovative research. The NPCF has received a perfect 100% score for financial health and transparency and is recognized as the top-rated cancer charity in the U.S. by Charity Navigator. For more information, visit NationalPCF.org or connect via FacebookTwitter or Instagram.

SOURCE National Pediatric Cancer Foundation

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Child Health

Time is Running Out: Life Time’s 3 Key Tips for Choosing a Summer Camp

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CHANHASSEN, Minn. /PRNewswire/ — With summer creeping closer, parents are now on the lookout for engaging activities to fill their kids’ days once school is out. Life Time (NYSE: LTH), which serves more than 31,000 children aged 5 to 12 annually at its summer camps across North America, offers these tips from its Kids experts to guide parents in selecting a camp this year.

Life Time’s summer camps are designed to give children an unforgettable experience full of adventures, sports, activities, and friendships, all while keeping them active through the summer. According to the Centers for Disease Control and Prevention, active children tend to have better grades in school, improved concentration and better cognitive performance.

  1. Look for Unique Activities – Consider a summer camp that engages kids in new active experiences, helps them learn different skills and encourages them to be healthy. Every Life Time Summer Camp includes weekly themes, from science experiments to outdoor exploration, giving kids an opportunity to learn and try something new every day. Two electives are included every week including art, STEAM activities, sports, athletic training, dance, coding, cheer and pickleball. There are also weekly Friday field trips to museums, zoos, aquariums, waterparks, amusement parks and other local attractions.
  2. Is the Summer Camp Flexible? – Parents are busier now than ever before. Be sure to check that your summer camp start and end times work for everyone. Many camps have forced times for drop-off and pick-up, creating extra challenges. Life Time has extended hours to accommodate parents’ busy schedules. Camp runs from 9 a.m. to 4 p.m. Before care (7-9 a.m.) and aftercare (4-6 p.m.) are included in the cost of camp. Additionally, consider asking about flexible payment options. At Life Time, parents can pay in full during registration, or choose a flex payment plan for the same total price.
  3. Save Time with Swim Lessons – Summer is a great time to get kids started with swim lessons. Why not cross two things off the list with a summer camp that includes swim lessons? Registration for Life Time’s summer camps includes twice weekly swim lessons supervised by lifeguards and trained professionals, ensuring parents’ peace of mind regarding water safety throughout the season.

Life Time’s Kids Camps are designed to give children an unforgettable experience full of adventures, sports, activities, and friendships, all while keeping them active through the summer. According to the Centers for Disease Control and Prevention, active children tend to have better grades in school, improved concentration and better cognitive performance.

“What truly sets our summer camps apart at Life Time is the quality and variety of content your child will be experiencing. Each day has a unique lesson plan, so kids never get bored,” said Samantha Stark, Senior Director of Life Time’s Kids Programming. “If you add in our unique offering of electives and swim lessons, kids at Life Time’s camps will be well-equipped to have a healthy, happy summer.”

Busy families at Life Time looking for an exciting way to keep their kids healthy and active this summer can now register for the Life Time’s 2024 Summer Camps. For more information about camps near you and to register, visit the Life Time Summer Camps website.

About Life Time®
Life Time (NYSE: LTH) empowers people to live healthy, happy lives through its portfolio of more than 170 athletic country clubs across the United States and Canada. The Company’s healthy way of life communities and ecosystem address all aspects of healthy living, healthy aging and healthy entertainment for people 90 days to 90+ years old. Supported by a team of more than 37,000 dedicated professionals, Life Time is committed to providing the best programs and experiences through its clubs, iconic athletic events and comprehensive digital platform.

SOURCE Life Time, Inc.

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Know as They Grow: How birth defects affect each stage of life

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(Family Features) Birth defects, structural changes that affect one or more parts of the body, are the leading cause of infant mortality. A baby is born with a birth defect every 4.5 minutes, according to the U.S. Centers for Disease Control & Prevention (CDC).

Birth defects most often develop during the first three months of pregnancy, when a baby’s organs are forming. Not only can they affect mortality, but they can also cause problems for a baby’s overall health and how the body develops and functions. Common birth defects include congenital heart defects, cleft lip, cleft palate and spina bifida.

Genetics, behaviors and social and environmental factors can impact the risk for birth defects, and not all birth defects can be prevented. To help improve the lives of people living with birth defects, consider this information from the experts at March of Dimes, who aim to provide knowledge about what birth defects are, how to prevent them and their impact across all stages of life.

Pregnancy
Although not all birth defects can be prevented, people can increase their chances of having a healthy baby by managing health conditions and adopting healthy behaviors before becoming pregnant.

When planning a pregnancy, see a health care professional and start prenatal care as soon as possible. Talk about taking any medications you’re currently taking (or might need during the pregnancy), including vitamins. Most doctors recommend women take 400 micrograms of folic acid every day before and during pregnancy to help prevent birth defects.

Also discuss vaccinations (including COVID-19, since pregnant women are at elevated risk for severe COVID-19 illness) and other medical concerns, such as how to manage diabetes. Avoid overheating and treat fevers and infections promptly. Avoid alcohol, smoking cigarettes and marijuana or other drugs during pregnancy.

Infancy
If your baby is diagnosed with a birth defect during pregnancy, or born with a birth defect or other health condition, he or she may need special care to aid growth and development. Many children with birth defects lead long and happy lives. However, birth defects remain critical conditions that can cause lifelong challenges.

Advancements such as improved newborn screening and early detection of birth defects can help pinpoint potential problems and ensure the baby begins receiving supportive care for better survival rates and quality of life. Examples include newborn screenings for critical congenital heart defects and monitoring bladder and kidney function in infants and children with spina bifida.

Childhood
Meeting the complex needs of a person with birth defects involves the whole family and can be challenging at times. Finding resources, knowing what to expect and planning for the future can help. Early intervention services and support include special education, speech therapy and physical therapy. These can have a significant impact on a child’s ability to learn new skills, overcome challenges and increase success in school and life.

Some babies born with birth defects may also have physical and intellectual disabilities. The exact ages of developmental milestones are different for each child. Families, educators and health care providers can work together to set meaningful goals and create a plan to help children living with birth defects reach their full potential.

Adolescence
Adolescents and young adults living with birth defects may face unique challenges as they transition from childhood to adulthood. They may need to navigate changes in insurance and transition from a familiar pediatric specialist to a new adult doctor. It’s important for people with birth defects and their families to begin planning for this transition during childhood so they can lead healthy, independent lives as adults.

Other areas of focus might include medications, surgeries and other procedures; mental health; social development and relationships within and outside the family; physical activity; and independence.

Adulthood
With every pregnancy, a woman starts out with a 3% chance of having a baby with a birth defect, regardless of underlying health conditions or lifestyle factors, according to the CDC.

Many women with birth defects and other health conditions have healthy, uneventful pregnancies. However, women with birth defects may be more likely to have a baby with a birth defect. People living with birth defects should talk with their health care providers before becoming pregnant about how a pregnancy might affect them and their baby.

Having someone in your family with a birth defect also increases your chances of having a baby with a birth defect. To learn more about your genetic risk of having a baby with a birth defect, talk with a clinical geneticist or a genetic counselor.

Learn more about birth defects by following #EveryJourneyMatters and #BirthDefects on social media and visiting marchofdimes.org/birthdefects.

Tips to Prevent Birth Defects
Not all birth defects can be prevented, but you can help reduce the risk and increase your chances of having a healthy baby by following these steps.

  • Get a preconception checkup before you start trying to get pregnant.
  • Ensure your vaccinations are up to date. Some vaccinations protect you from infections that can cause birth defects and updating certain vaccinations may mean you need to wait before trying to become pregnant.
  • Take a vitamin supplement that includes 400 micrograms of folic acid every day.
  • Learn about your family health history. If you, your partner, your children or someone in your families has a birth defect, you may want to see a genetic counselor to learn more about your risk.
  • Work with your health care provider to manage chronic health conditions, such as diabetes.
  • Talk to your health care provider about medicines you take, including any prescriptions, over-the-counter medicines, supplements and herbal products. Certain medicines may increase your baby’s risk of a birth defect.
  • Reach a healthy weight. Being obese can increase your baby’s chances of having birth defects like neural tube defects, heart defects and cleft palate.

Photos courtesy of Shutterstock


SOURCE:
March of Dimes

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