Archive for neurology
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 about Research offers guidance on genetic testing for cerebral palsy
Tagged: cerebral palsy, genetics and genomics, neurology, research
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 about A path forward for genetic testing in unexplained epilepsy
Tagged: epilepsy, genetics and genomics, neurology, research
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 about New insight into dietary approaches for epilepsy
Tagged: diet, epilepsy, neurology, neuroscience, seizures
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 about Acute flaccid myelitis (AFM): What parents need to know
Tagged: neurology, orthopedics
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 about Fetal brain imaging predicts neurodevelopment of babies with congenital heart disease
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 about Beyond fluid buildup: Rethinking congenital hydrocephalus
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 about Sudden, unexplained child deaths often have a genetic cause
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 about To do more for Gwyneth: One family’s journey with Rett syndrome
Tagged: neurology, neuroscience, rett syndrome
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 about Rethinking the origins of cerebral palsy
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 about Solving neurodevelopmental mysteries, one gene, one child at a time