Archive for neuroscience
Chasing Rett syndrome biomarkers: Could overnight EEG studies improve care?
In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12 to 18 months of age. Children then usually stabilize, but how Rett will ultimately affect them is hard to predict. Some girls develop epilepsy; others have no seizures at ... Read More
A new angle on the cause of Alzheimer’s disease: Accumulating brain mutations
Alzheimer’s disease is marked by a loss of functional neurons in the brain. But what causes this loss? A new study reveals that people with Alzheimer’s have an abundance of newly acquired mutations in their neurons — more than people of the same age without Alzheimer’s, and enough to disable genes important to brain function. ... Read More
Beyond fluid buildup: Rethinking congenital hydrocephalus
Hydrocephalus is classically seen as a plumbing problem, the result of too much cerebrospinal fluid (CSF) in the brain or dysregulation of fluid flow. It is usually treated with shunts to drain the CSF, or with ETV/CPC, which makes a small hole to drain the CSF and burns off the choroid plexus tissue that produces ... Read More
To do more for Gwyneth: One family’s journey with Rett syndrome
When Florida couple Melissa and Nick welcomed their daughters, McKinley and Gwyneth, in October 2017, the first-time parents knew to expect the unexpected with parenthood. Nonetheless, they couldn’t help but envision their daughters’ futures: learning to walk, talk, and drive, then eventually going to college, falling in love, getting married, and having kids. And Melissa ... Read More
Solving neurodevelopmental mysteries, one gene, one child at a time
Suheil Day was born early, at 37 weeks. Aside from a slight head lag and mild muscle weakness, nothing seemed terribly amiss. But as the months progressed, he began having seizures. “At the age of 4 to 5 months, he started waking up screaming and crying excessively, his eyes rolling up into his head,” says ... Read More
Sound sleep, sound mind: The importance of sleep for preteens’ developing brains
When your preteen doesn’t get enough sound sleep, some of the signs, like crankiness, are obvious. But some of the effects are more subtle. A large, first-of-its-kind study from Boston Children’s Hospital now shows that too little or poor-quality sleep may prevent the brain from developing strong, efficient connections. “Early adolescence is a critical time ... Read More
Diving deep on epilepsy genetics
When child neurologist Annapurna Poduri, MD, MPH finished her clinical epilepsy fellowship at Boston Children’s Hospital in 2004, she was struck to find that the genetic understanding of epilepsy had changed little in the decade since she started medical school. Many questions were unanswered — and some weren’t yet being asked. Existing treatments were still ... Read More
‘Human accelerated regions’: How they make our brains uniquely human
Starting when humans diverged from chimpanzees some 5 to 6 million years ago, we’ve evolved in our uniquely human fashion thanks to changes in our genome. And certain parts of the human genome, known as human accelerated regions or HARs, have evolved especially rapidly. Intriguing new work led by Christopher Walsh, MD, PhD, of Boston ... Read More
A ‘pump’ gene’s surprising role in early brain formation
In polymicrogyria, the cortex of the brain has many irregular, small folds (gyria) and disorganization of its layers. Many affected children have severe developmental delay, intellectual disabilities, and epilepsy, and many need to use a wheelchair. Mutations in several different genes can cause this “overfolding of the brain” condition. Key takeaways The gene ATP1A3, associated ... Read More
Regular physical activity linked to more ‘fit’ preteen brains
We know exercise has many health benefits. A new study from Boston Children’s Hospital adds another benefit: Physical activity appears to help organize children’s developing brains. The study, led by Dr. Caterina Stamoulis, analyzed brain imaging data from nearly 6,000 9- and 10-year-olds. It found that physical activity was associated with more efficiently organized, robust, ... Read More