Archive for neurology
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 about MIS-C’s long-term effects on mental and neurologic health
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 about Bedside tech predicts newborns’ outcomes after therapeutic hypothermia
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 about Which children in status epilepticus are most at risk?
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More about Facial weakness: A dark matter detective story
Another angle on Alzheimer’s: CSF, proteomics, and metabolic enzymes
Currently there are no objective, easily assessed diagnostic markers for Alzheimer’s disease, and no good therapeutic options. Taking an agnostic approach, proteomics expert Hanno Steen, PhD, and neurobiologist Judith Steen, PhD, who share a lab at Boston Children’s Hospital, teamed up to analyze proteomics data from the cerebrospinal fluid (CSF) that bathes the brain, combining ... Read More about Another angle on Alzheimer’s: CSF, proteomics, and metabolic enzymes
Rethinking cerebral arachnoid cysts through genomics
Cerebral arachnoid cysts are the most common mass-occupying brain lesion in humans. Some cause no noticeable symptoms and may just be incidental findings. Others are quite severe, causing hydrocephalus and potentially nerve damage; these clearly require surgery to drain the cyst fluid and relieve pressure on the brain. But a middle ground sits between these ... Read More about Rethinking cerebral arachnoid cysts through genomics
Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
As a newborn, Sam Hoffman never cried or made a sound. His mother, Carolyn, often had to wake him up to feed him. He missed many of his infant milestones. At one visit, his pediatrician tapped his leg and couldn’t get a reflex. A urine test found extremely high levels of 4-hydrobutyric acid or GHB ... Read More about Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
A promising target for ALS and other neurodegenerative disorders: Curbing inflammation
When cells recognize a danger, such as an infection, they activate the innate immune system. Sentinel molecules sound an alarm, recruiting immune cells to take down the threat. In 2016, Judy Lieberman, MD, PhD and her colleagues at Boston Children’s Hospital showed that a protein called gasdermin D initiates a final, decisive step: pyroptosis, a ... Read More about A promising target for ALS and other neurodegenerative disorders: Curbing inflammation
Treating brain ‘hotspots’ and networks to address autism, aggression, and more
What if doctors could break down conditions like autism into their key symptoms, map these symptoms to “hotspots” in the brain, and then treat those areas directly with brain stimulation? If it bears out, such an approach could turn the care of neurologic and developmental disorders on its head, focusing on symptoms that are shared ... Read More about Treating brain ‘hotspots’ and networks to address autism, aggression, and more
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 about Cracking the code on Kleefstra syndrome: It takes a community