Ellie McGinn is an adorably sweet and charming third-grader from Arlington, Va., who has a progressive neurological disease known as LBSL. Although there is currently no cure or long-term treatment, researchers at Kennedy Krieger are working with her family to find the key to curing Ellie, while keeping her symptoms at bay.
When Ellie was a toddler, she began falling down and suffering from pain and fatigue. Her parents, Michael and Beth McGinn, took her to multiple specialists to find out what was wrong. Neurologists were perplexed—none had seen a case like Ellie’s. Over the next six months, Ellie’s ability to walk deteriorated. When a doctor finally diagnosed her, the news was grim. Ellie had a rare, neurodegenerative disorder known as LBSL (short for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation).
We’re at the dawn of a new frontier in neuroscience. With advances in neuroimaging technology and genetic analyses, discoveries of how the brain develops and functions are occurring at an accelerating pace. Functional magnetic resonance imaging provides a window into the brain, giving scientists important clues about how the connectivity of neurons, brain structure, and chemical makeup relate to the symptoms of neurological disorders. We can pinpoint regions of the brain that are activated during specific behaviors, like impulsivity, motivation, and attentiveness—or certain feelings, such as anger or anxiousness.
Your work focuses on children who have experienced trauma, such as abuse or neglect. How does your research aim to understand and help these children?
The goal of our research is to better understand risk and resiliency in traumatized children, and to utilize what we learn to develop more effective interventions and social policies. One area we’re looking at is how genetic and environmental factors interact in maltreated children. People used to think of genes as fixed and static, but what’s emerged in recent years is how dynamic the interplay is between genes and the environment.
Vaccines, antibiotics, mapping of the human genome—every medical breakthrough in history was born through research, and at the heart of treatment research are clinical trials—testing of new medications, devices, or interventions in an attempt to better understand and treat a disease or disorder. At Kennedy Krieger’s Clinical Trials Unit, researchers gather scientific evidence so that our clinicians and families can make the most informed decisions about care.
Every movement you make—walking, reaching for your keys, or writing your name—is carefully orchestrated by hundreds of millions of neurons in the brain, with barely a conscious thought. But when a brain injury occurs, a person’s ability to move may become impaired. A once effortless movement may now seem impossible.
Researchers are investigating whether function of the somatosensory center in the brain, which processes information about how we experience touch, is a reliable measure of concussion and recovery from concussion. If so, a small, portable tool, like the one used by fifteen-year-old Madison Airey (above), could be used in schools and on sidelines.
After almost 15 years of study, Anne Comi, MD, director of the Institute’s Hunter Nelson Sturge-Weber Center, and Jonathan Pevsner, PhD, director of Bioinformatics, confirmed their original hypothesis: the syndrome and the birthmark are caused by the same somatic mutation (an alteration in DNA that occurs after conception) now known to be in the GNAQ gene.
As far back as 1000 BC, ancient civilizations used a primitive, but ingenious, cooling system using nothing more than clay pots, water, and the natural cooling power of evaporation to keep food cool. Could this same low-tech cooling system be used to prevent brain damage and cerebral palsy in developing countries?
Experts agree that early intervention in children with autism can lead to better outcomes later in life. Typically, autism is not diagnosed until age three or four, when delays in speech and social interaction become evident. New research by Dr. Joanne Flanagan and Dr. Rebecca Landa, director of the Center for Autism and Related Disorders at the Kennedy Krieger Institute, has identified a simple test that can raise a red flag for autism as early as six months.
Like so many psychological and developmental disorders, there is no one test to detect ADHD, at least not with any certainty. Not only must a child demonstrate a certain number of symptoms, but the responsibility for picking up on those symptoms -- and for putting two and two together to make a diagnosis -- often falls to the child's parents or teachers.