Archive for neurology
Cracking the code on Kleefstra syndrome: It takes a community
Paul Terry is a staunch advocate for people with rare diseases — but researchers were only able to put a name to his condition five years ago. It was an answer he and his family had long sought. When Paul was a baby, his parents saw that he wasn’t hitting all his milestones. Their pediatrician ... Read More
Research offers guidance on genetic testing for cerebral palsy
A recent meta-analysis confirms what a small study at Boston Children’s found last year: About 1 in 4 children with cerebral palsy (CP) who had DNA testing had genetic variants likely to have caused or contributed to their condition. With the new data, the researchers have expanded the traditional view of the condition and offer ... Read More
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More
New insight into dietary approaches for epilepsy
Fasting has been believed since ancient times to curb seizures in epilepsy, and small patient studies in the early 1900s have revived the idea. But the reasons have remained mysterious. New research from Boston Children’s helps explain how fasting affects the brain at the molecular level. The findings could lead the way to new approaches ... Read More
Acute flaccid myelitis (AFM): What parents need to know
If you’re a parent, chances are you’ve heard the recent news reports about acute flaccid myelitis, or AFM. As of September 2022, 13 cases of AFM have been confirmed in the U.S. according to the Center for Disease Control (CDC), and experts expect that number could rise. For reasons that are still unclear, outbreaks have ... Read More
Fetal brain imaging predicts neurodevelopment of babies with congenital heart disease
Children with congenital heart disease (CHD) often have neurodevelopmental impairment. Until fairly recently, this was thought to stem from complications of cardiac surgery or reduced oxygen supply to the brain due to the heart defect. Now we know that some babies with CHD have impaired brain development in utero because of low oxygen supply to ... 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
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