Archive for neurology
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
Sudden, unexplained child deaths often have a genetic cause
When a baby or toddler dies without warning, parents often blame themselves. A study at Boston Children’s may provide some insight into sudden, unexplained child deaths and perhaps a measure of closure. It suggests that at least 10 percent of children who die suddenly have an undiagnosed genetic condition that caused or contributed to their ... 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
Rethinking the origins of cerebral palsy
Cerebral palsy (CP) has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity. For many children, this is true. But new work from Boston Children’s finds that up to 1 in 4 have an underlying genetic condition with the potential to change the approach to their care. Findings ... 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
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
A promising new antiseizure drug tailored to newborns
Neonatal seizures can lead to serious consequences, including significant cognitive and motor disabilities, lifelong epilepsy, and death. They are often highly resistant to treatment, in part because seizures in newborns are fundamentally different from seizures in older children and adults. Yet they are treated in much the same way as older patients, with little change over the decades. Better treatment is ... Read More
I had a seizure. Here’s what I learned.
I was 11 when I had my seizure. I’m 15 now. I’ve learned a lot since that night, and I owe a lot of what I know to Dr. Alex Rotenberg and the team at Boston Children’s Hospital. They helped me understand what caused my seizure and how to prevent another one. But I’ve also ... 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
Motor neurons made from patients’ cells reveal possible ALS drugs and targets
Amyotrophic lateral sclerosis (ALS) is a severe, fatal neurodegenerative disorder causing loss of motor neurons and voluntary muscle action. While mouse studies have identified potential treatments, these drugs have typically done very poorly in human trials. “One of the most difficult challenges in drug discovery is identifying a target that has a key role in ... Read More