Archive for neurology
Could ADHD be diagnosed genetically?
Despite it being very common, ADHD is often missed until a child reaches age 7 or older. By that time, they have likely been struggling socially and in school. Could early genetic testing be part of the solution? Anne Arnett, PhD, in partnership with Ryan Doan, PhD, at Boston Children’s Hospital, set out to see ... Read More
Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Chloe Burian has always defied expectations. Despite surgeries and other treatments for several conditions that stem from the genetic disorder Marfan syndrome, the 12-year-old remains upbeat. “Nothing bothers her,” says Chloe’s mom, Audrey. “She goes through life with a smile.” Still, there were moments of doubt along the way, especially when Audrey and her husband, Rudy, ... Read More
Homecoming: Jack’s complex care brings a family back to Massachusetts
Georgia and her husband, Keith, moved to North Carolina from Massachusetts in 2015 with a dream of building a house and starting a family. Their plans changed, however, when their son Jack was born in 2017 with severe health complications, including a rare and severe form of childhood epilepsy called Lennox-Gastaut syndrome and a rare ... Read More
Broken signals: Things you may not know about nerve injury
When Dr. Andrea Bauer talks about nerve injuries, she talks about phone cords. A damaged phone cord transmits staticky or broken sounds, or no sound at all. Similarly, peripheral nerve injuries (injuries that affect the arms, hands, legs, and feet) disrupt signals to and from the brain, causing numbness, loss of sensation, and lost function. ... Read More
Could we intervene in Huntington’s disease before symptoms appear?
Huntington’s disease is the most common single-gene neurodegenerative disorder and is characterized by motor and cognitive deficits and psychiatric symptoms. Work led by Beth Stevens, PhD, and Dan Wilton, PhD, in the Department of Neurology at Boston Children’s Hospital, now shows that the disease process begins well before symptoms appear. That raises the possibility of ... Read More
Research aims to pinpoint genetic connection between autism and heart disease
Cardiology and neurodevelopmental researchers have more questions than answers about the possible genetic links between congenital heart disease (CHD) and autism spectrum disorder (ASD). A study that’s underway at Boston Children’s aims to pin down those elusive answers by taking a close look at the genetics of children with neurodevelopment and cardiovascular conditions. The researchers want to see ... Read More
A global take on rare disease research: Maya Chopra, MBBS, FRACP
Several years ago, while working as a clinical geneticist at the Imagine Institute of Genetic Diseases in Paris, Dr. Maya Chopra saw a child with unexplained intellectual disability, a cleft palate, distinctive facial features, and an inability to speak. Through a genetic analysis, she and her colleagues identified a rare variant in one copy of ... Read More
MIS-C’s long-term effects on mental and neurologic health
Children and adolescents who have had multisystem inflammatory syndrome in children (MIS-C) after exposure to COVID-19 are recommended to have follow-up heart function testing. A new study from Boston Children’s Hospital suggests they should also be monitored for long-term neurologic and psychosocial complications. “If parents are noticing changes in their child’s behavior or functioning, it ... Read More
Bedside tech predicts newborns’ outcomes after therapeutic hypothermia
Hypoxic-ischemic encephalopathy (HIE), brain injury caused by oxygen deprivation around birth, is a common cause of admission to the neonatal intensive care unit. Therapeutic hypothermia is now becoming the standard treatment to minimize brain injury; cooling the newborn’s head or whole body for three days slows cellular metabolism and allows brain cells to avoid and ... Read More
Which children in status epilepticus are most at risk?
Status epilepticus, a prolonged, potentially life-threatening seizure, is epilepsy’s most severe manifestation. Patients known to have refractory status epilepticus are more likely to need ICU care if initial treatment is delayed. But what about the broader population of children who come to the emergency room in status epilepticus? Are there any early indicators to predict ... Read More