Child Health
Study Identifies Cause for Mysterious Cases of Epilepsy in Children
International collaboration uncovers mosaicism, a condition in which cells within the same person have a different genetic makeup, as a cause for pediatric seizures
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
Food and Beverage
A Lesson in Kindness, Inclusion and How Kids Eat Differently
Kids Eat Differently: The school year brings new classmates, routines and opportunities for children to learn about people whose experiences may be different from their own. They could include friends who use a wheelchair, carry an inhaler or even receive nutrition through a feeding tube.
A Lesson in Kindness, Inclusion and How Kids Eat Differently
(Feature Impact) The school year brings new classmates, routines and opportunities for children to learn about people whose experiences may be different from their own. They could include friends who use a wheelchair, carry an inhaler or even receive nutrition through a feeding tube.
Watch this video to learn more
For families who rely on tube feeding, it is an essential part of daily life but is often understood only by those who experience it. That limited awareness can leave children who are tube fed and their families feeling isolated or unseen, according to Gerard Minor, a pediatric gastroenterology and hepatology specialist.
Parents can use everyday questions as opportunities to help children understand there are many ways people receive nourishment. Teachers, classmates, caregivers and communities can also help make tube feeding part of the everyday conversation around childhood rather than something that separates children from it.
“Helping children understand those differences early can encourage curiosity, kindness and inclusion,” Minor said.
To help bring greater awareness, understanding and representation to children and families who experience tube feeding every day, Compleat, a leader in tube feeding formulas, launched “What Is Better Than How,” featuring “Sesame Street’s” Elmo and his signature warmth and curiosity. The original song celebrates the many ways people eat. Some people eat with a fork, some use a spoon and some use a tube, reinforcing a simple message: What matters is not how you eat. What matters is that you are nourished, loved and included.
To hear the song, create a personalized version and learn more about the campaign, visit Compleat.com/WhatIsBetterThanHow.
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Child Health
Changing the Landscape of Childhood Cancer Survivorship
Childhood Cancer: hile “cancer” is a term no family wants to hear, especially when it comes to their children, there is reason for hope. Today, 85% of children diagnosed with cancer survive at least five years. Survival is only part of the journey, however.
Changing the Landscape of Childhood Cancer Survivorship
(Feature Impact) While “cancer” is a term no family wants to hear, especially when it comes to their children, there is reason for hope. Today, 85% of children diagnosed with cancer survive at least five years, according to the National Cancer Institute, up from 75% three decades ago.
Watch this video to learn more
“This progress is driven in large part by dedicated research,” Hyundai Hope on Wheels Board Member Kevin Reilly said. “Over the last 28 years, Hyundai Hope on Wheels has committed over $300 million in pediatric cancer research and program grants, awarding more than 1,600 grants to 210 medical institutions nationwide, impacting thousands of young lives each year.”
Survival is only part of the journey, however. Nearly half (46%) of U.S. adults believe a child ringing the hospital bell after cancer treatment means the child is cancer-free and their medical journey is largely over, according to a survey conducted by Atomik Research on behalf of Hyundai Hope on Wheels. For the children and families living through a diagnosis, the reality is far more complex.
“The reality is that healing continues long after treatment, which is why sustained investment in survivorship care is a priority for us,” said John Guastaferro, executive director of Hyundai Hope on Wheels.
Isabella Franco-Capps, 11, understands that journey firsthand. Diagnosed with B-cell acute lymphoblastic leukemia at age 5, her journey took two years before she could say she’s “a cancer survivor.”
“I was diagnosed with b-cell acute lymphoblastic leukemia,” she said. “This began my two-year-long journey of scans, pokes, chemotherapy and hospital stays. And now I’m a cancer survivor.”
Fellow Hyundai Hope on Wheels National Youth Ambassador, Jackson Trihn, 12, is using his voice to call for continued research and to bring hope to others.
“The role … is being able to share my story,” he said. “Not just to spread awareness but to spread hope to kids that need it. And awareness is so important because people don’t understand how hard pediatric cancer can be.”
Continued progress can help ensure more children ring the bell and receive the care and support they need long after they’ve had the opportunity to do so. To learn more about these efforts and how you can help, visit HyundaiHopeOnWheels.org.
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Women's Health
From Pregnancy to Parenthood: How Medicaid Supports Women Across the Maternal Health Journey
When women are planning, expanding or raising families, access to healthcare is a vital source of physical and mental support. For millions of women and families across the U.S., Medicaid provides that support, enabling parents and children to access the reproductive, maternal and pediatric healthcare they need to thrive.
(Feature Impact) When women are planning, expanding or raising families, access to healthcare is a vital source of physical and mental support. For millions of women and families across the U.S., Medicaid provides that support, enabling parents and children to access the reproductive, maternal and pediatric healthcare they need to thrive. It’s there for anyone who needs it, from working adults to families navigating unemployment or disability.
To learn about how Medicaid supports growing families through every stage of the parenthood journey, consider this information from the maternal health experts at Community Catalyst.
Making Family Planning Possible
When people are able to plan and prepare to welcome children into the world, it can remove a lot of stress, uncertainty and complication from their journeys. Medicaid family-planning coverage may include reproductive health counseling, pre-pregnancy screenings, many forms of FDA-approved contraception and other preventive services. Comprehensive access to birth control allows women and couples to make their own decisions about pregnancy timing or spacing between siblings.
Supporting Healthy Pregnancies
Pregnancy is no small endeavor, and a woman with a healthcare team at her side is better prepared to face whatever challenges may arise. Pregnancy often requires frequent appointments for ultrasounds, laboratory testing and monitoring – all of which are made possible and affordable through Medicaid. Since 1 in 4 Medicaid recipients are women ages 15-49, this care can make a difference during their childbearing years.
Covering Labor and Delivery Costs
Labor and birth can be unpredictable, but being able to afford them shouldn’t be. Without Medicaid, which finances approximately 41% of U.S. births, based on data from the National Center for Health Statistics, the cost of hospitalization and delivery could be financially devastating to young families. Coverage for labor, delivery and NICU care, if needed, gives parents the ability to focus on their new babies instead of overwhelming medical bills.
Providing Postpartum Care
The need for maternal healthcare doesn’t end when mother and child are discharged from the hospital. Physical recovery takes time, especially if there were any complications during the pregnancy or delivery. Beyond that, postpartum women may need mental health support, treatment for chronic conditions, contraception renewals and other health services that Medicaid can provide. Currently, 49 states plus Washington, D.C. have extended postpartum Medicaid coverage to 12 months, which helps new mothers get continuous care without worrying about insurance lapses.
Caring for Growing Kids
Nearly half of all Medicaid recipients in the U.S. are children ages 0-18 – and sometimes kids qualify for Medicaid even when their parents don’t. The program can help new parents stay up to date with well-child visits for infants, immunizations and ongoing preventive care throughout childhood.
To learn more about access to essential services at every stage of life, visit communitycatalyst.org/maternalhealth.
Filling Gaps in Pregnancy and Postpartum Care: Kayla and Tru’s Story
When Kayla found out she was pregnant at 24 years old, she had no idea how she was going to afford all the costs that were coming. Despite having part-time employment and primary insurance through her mother, she faced gaps in coverage for pregnancy care.
Qualifying for Medicaid changed everything. Not only did it cover Kayla’s prenatal visits, labs, ultrasounds and delivery, but once her son Tru was born, both mother and baby required an extended hospital stay. Medicaid made it possible for Tru to get the care he needed in the NICU while Kayla recovered from birth complications.
Afterward, the program continued to cover Kayla and Tru for follow-up appointments and well-child visits. She’s grateful it was there during her time of need and has one simple message to share: If you qualify for Medicaid, apply.
“You never know what’s going to happen,” she said. “I didn’t expect to be in the hospital as long. I didn’t expect for him to be where he was. But it was definitely needed and helpful.”
Photo courtesy of Shutterstock (mother leaning over hospital bassinet)
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💪 Your health journey starts here! Explore the latest health news, fitness tips, wellness trends, and healthy living advice. Share your thoughts in the comments and subscribe to the STM Daily News newsletter to stay informed and inspired every day.
