Archive for diagnostics
Changing lives through genetics: The Children’s Rare Disease Collaborative
A 14-year-old girl was having back pain after a car accident and visited an orthopedic clinic at Boston Children’s Hospital. In the course of her care, she joined the Children’s Rare Disease Collaborative (CRDC), a hospital-wide effort to enroll children and adults with rare diseases in genetic studies. Genetic testing revealed that both she and ... Read More about Changing lives through genetics: The Children’s Rare Disease Collaborative
EEG markers in early life could help predict and diagnose anxiety
Anxiety disorders are the most common mental health problem among children and adolescents and are a risk factor for adult disorders. Stress is a big factor — at home, at school, and from external factors like COVID-19 and climate change. But some children may be innately more susceptible to anxiety. New research at Boston Children’s ... Read More about EEG markers in early life could help predict and diagnose anxiety
Deep plasma proteomics: Back to the future
Blood plasma is collected from people routinely during clinical care and for research. It is potentially a rich source of protein biomarkers for diagnostic and prognostic purposes, for measuring response to treatment, and for revealing disease biology. Yet identifying such biomarkers in plasma with proteomics, our best available tool, has been a challenge: Ninety-nine percent ... Read More about Deep plasma proteomics: Back to the future
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
Genetic sequencing may open doors for newborns with hypotonia
When a baby is born with low muscle tone (hypotonia), the future is hard to predict, and families have a lot of questions. How should neonatologists care for these infants? Findings from a recent review could help provide some answers, guide appropriate interventions, and in some cases open the way to custom treatments. Diagnosing a ... Read More about Genetic sequencing may open doors for newborns with hypotonia
How protected am I from COVID-19? A new test could tell you at home
Say you’re going to a wedding or a concert or are about to leave the country. You’ve been vaccinated against COVID-19, even boosted, but you have an underlying medical condition. You might have a young child who’s received only one vaccine dose. How much protection do you and your family have? Do you need another ... Read More about How protected am I from COVID-19? A new test could tell you at home
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
Could concussion be monitored through urine samples?
Concussion can be frustratingly hard to diagnose and track. The injury doesn’t show up on routine brain scans, and there is no definitive diagnostic test. It’s usually diagnosed based on symptoms and, in athletes, comparison with baseline testing if it was done. But concussion symptoms are non-specific, unreliable, and easily influenced by emotions. “Athletes usually ... Read More about Could concussion be monitored through urine samples?
From our labs and clinics: The top 10 COVID-19 science stories of 2021
As COVID-19 waxed, waned, morphed, and waxed again this year, research was taking place throughout Boston Children’s Hospital. Ongoing national studies the hospital is leading or co-leading include Overcoming COVID-19, a CDC-funded study on COVID-19 and multisystem inflammatory syndrome in children (MIS-C); IMPACC, examining immune responses in people hospitalized with COVID-19; and MUSIC, studying MISC’s ... Read More about From our labs and clinics: The top 10 COVID-19 science stories of 2021
Rapid saliva test detects COVID-19 variants, at home or point of care
COVID-19 tests are now widely available, including FDA-approved tests like BinaxNOW that people can do at home. But none of the home tests — or any hospital test — can distinguish between specific SARS-CoV-2 variants. Detecting and tracking variants, essential for public health efforts, requires complete nucleic acid sequencing of the virus. Currently, only specialized ... Read More about Rapid saliva test detects COVID-19 variants, at home or point of care